NCBIGene:7466

The study identifies a new mutation, a nine nucleotide insertion (AFF344-345ins), in the WFS1 gene in a Japanese family with two members suffering from Wolfram syndrome (WFS). This syndrome is an autosomal recessive disorder characterized by early onset diabetes mellitus, progressive optic atrophy, sensorineural deafness, and diabetes insipidus. The mutation was found only in the two family members with WFS, suggesting that this mutation is the cause of the syndrome.


UMLS:C1072557


MONDO:0018105

Diabetes mellitus, Optic atrophy, Sensorineural deafness, Diabetes insipidus


UMLS:C4743990


UMLS:C5380626

The study investigates the role of the A118G variant of the mu opioid receptor (OPRM1) gene, which is associated with drug addiction. The research found that in human autopsy brain tissues, the A118 mRNA allele was more abundant than the G118 allele. Further, the OPRM1-G118 variant resulted in lower mRNA and protein levels, indicating a defect in transcription or mRNA maturation. This suggests that the OPRM1-G118 is a functional variant with negative effects on both mRNA and protein yield.


UMLS:C1548681


UMLS:C5380626


NCBIGene:10400

The study investigates the relationship between the polymorphism of the PEMT gene and nonalcoholic fatty liver disease (NAFLD). The PEMT gene is responsible for the synthesis of phosphatidylcholine. The study found that a single nucleotide polymorphism in exon 8 of PEMT, which leads to a V175M substitution, is associated with NAFLD. This mutation was found in 67.9% of the NAFLD subjects and in only 40.7% of control subjects.


UMLS:C5236103


PUBCHEM.COMPOUND:135146787


PUBCHEM.COMPOUND:14969

The study investigates the role of oxidative stress in vancomycin-induced nephrotoxicity and the protective effects of erdosteine, an expectorant with antioxidant properties. The results showed that vancomycin administration increased renal malondialdehyde and urinary N-acetyl-beta-d-glucosaminidase, markers of oxidative stress and renal tubular injury, respectively, while decreasing superoxide dismutase and catalase activities. Erdosteine administration alongside vancomycin significantly reduced these effects and showed histopathological protection against kidney damage. The findings suggest that oxidative stress plays a significant role in vancomycin-induced nephrotoxicity and that erdosteine can reduce this damage.


PUBCHEM.COMPOUND:14969


UMLS:C0075346


UMLS:C5392205


NCBIGene:18627

The research paper investigates the association of single-nucleotide polymorphisms in the hPER2 gene with diurnal preference. The study found that the 111G allele frequency was significantly higher in subjects with extreme morning preference than in those with extreme evening preference. The C111G polymorphism, which occurs 12 bases upstream from the translation start codon, might alter the secondary structure of the transcript. The PER2 111G allele associates with morning preference and is a potential candidate allele for advanced sleep phase syndrome (ASPS).


UMLS:C3510885


UMLS:C2699841


UMLS:C3475385

The study investigates the frequency of the NBS1 gene mutation 657del5 in Polish pediatric patients with sporadic lymphoid malignancies. The mutation was found in 3 of 270 patients with acute lymphoblastic leukemia (ALL) and 2 of 212 children with non-Hodgkin lymphoma (NHL), but not in any of the 63 patients with Hodgkin lymphoma (HL). The frequency of the mutation carriers was found to be increased in patients with ALL and NHL compared to the control population. However, NBS1 gene heterozygosity is not a major risk factor for lymphoid malignancies in childhood and adolescence.


NCIT:C176461


UMLS:C3695223

The study investigates the influence of a specific gene variant (Cys 23 Ser) in the serotonin 2C receptor (5-HT(2C)) gene on weight regulation in females with seasonal affective disorder (SAD). The study found that the Cys 23 Ser substitution was associated with weight, body mass index (BMI), and seasonal appetite change in Austrian females with SAD. In Canadian females with SAD, the Cys 23 Ser substitution was associated with minimum lifetime BMI. The study suggests that the Cys 23 Ser substitution plays a functional role in the behavioral regulation of body weight in females with SAD.


UMLS:C3695223


NCBIGene:4983

The study confirms that mutations in the OPHN1 gene are responsible for a specific syndrome characterized by mental retardation and cerebellar hypoplasia in males. Affected males also display similar facial features. Most carrier females exhibit mild mental retardation and subtle facial changes.


NCBIGene:4983


UMLS:C0086582


UMLS:C0560175


UNII:9512UKZ352

Summary not provided or could not be parsed.


MONDO:0017979

The study investigates Alpers syndrome, a fatal brain and liver disease associated with mutations in the POLG gene. The researchers studied a patient with the genotype E873stop/A467T. The E873stop mutation is predicted to produce a truncated, inactive polymerase, but only full-length pol gamma protein was detected. The study found that transcripts containing the stop codon undergo nonsense-associated alternative splicing and nonsense-mediated decay. More than 95% of the functional POLG mRNA was derived from the A467T mutation allele. Therefore, the Alpers syndrome in this patient was a result of a single-copy gene dose of the A467T allele, and selective elimination of transcripts bearing the E873stop mutation.


UMLS:C5206621

truncated, catalytically inactive polymerase


UMLS:C3540835


MONDO:0017979


NCBIGene:285440

The study investigates the mutations of the CYP4V2 gene in patients with Bietti crystalline dystrophy (BCD) from Singapore. Nine patients from six families were studied, and three pathogenic mutations were identified, two of which were novel. All nine patients had a previously identified 15-bp deletion in exon 7, with six patients carrying the deletion in the homozygous state. The study found clinical heterogeneity among the patients, and age did not correlate with disease severity. The study suggests a high carrier frequency for the 15-bp deletion in exon 7 in the Singapore population.


UMLS:C5238289


PUBCHEM.COMPOUND:7010718


UMLS:C5438858


UMLS:C1553331


HP:0003812


UMLS:C0001779


MONDO:0005277

The study aimed to investigate the role of genetic variants within the human tryptophan hydroxylase (TPH), amino acid decarboxylase (AADC) and monoamine oxidase A (MAOA) genes in migraine susceptibility. The researchers used a high-throughput DNA pooling experimental design to estimate allele frequencies. However, the results did not support the role of these genes in migraine susceptibility.


UMLS:C0205419


UMLS:C4737415


NCBIGene:17685

The study investigates the role of polymorphisms in the hMSH2 gene, a DNA mismatch repair gene, in breast cancer occurrence and progression. Two specific polymorphisms were studied: Asn127Ser and Gly322Asp. The study found no correlation between these polymorphisms and breast cancer progression. However, a strong association was found between the Gly/Gly phenotype of the Gly322Asp polymorphism and breast cancer occurrence, suggesting that the hMSH2 gene and its polymorphisms may play a role in breast carcinogenesis.


PR:000000191


UMLS:C3510855


UMLS:C1292303


UMLS:C5206507

The study found a correlation between the M404V mutation in the p62/SQSTM1 gene and a polyostotic form of Paget's disease of bone (PDB) in an Italian family. The mutation was found in four out of five clinically affected members of the family, all of whom exhibited the polyostotic form of PDB. Six unaffected members of the family were also found to carry the mutation, suggesting they may be asymptomatic carriers. The study suggests that the mutation could be used for early detection of relatives at risk for PDB.


UMLS:C5206507


MONDO:0007989

The study confirms the localization of the congenital microcoria locus (MCOR) to 13q31-q32 in a large Asian Indian family, suggesting that this is a single locus disorder and genetically homogeneous. Congenital microcoria is a rare developmental disorder of the iris associated with myopia and juvenile open angle glaucoma. The study also found a point mutation (144 G>A) resulting in a Q48H substitution in exon 1 of the MYOC gene in five of the eight glaucoma patients, but not in unaffected family members and 100 unrelated controls. This mutation is known to be associated with glaucoma in India. The study suggests that congenital microcoria is a potential risk factor for glaucoma.


NCBIGene:4653


MONDO:0007989


UMLS:C4554576


NCBIGene:18125

The study establishes a genetic link between inducible Nitric Oxide Synthase (iNOS) and primary open angle glaucoma (POAG), a major cause of blindness. The study found a significant difference in the allele distribution of the CCTTT-microsatellite between POAG patients and controls. The (CCTTT)14 allele, which has higher activity, was more common in POAG patients, while (CCTTT)10 and (CCTTT)13 were less common. The (CCTTT)14 allele also showed specific binding of nuclear proteins, suggesting a regulatory function for the microsatellite.


PUBCHEM.COMPOUND:71768139


UMLS:C3510946


PUBCHEM.COMPOUND:3151

The paper investigates the potential role of domperidone, a peripheral dopamine D2 receptor antagonist, in potentiating mirtazapine-associated restless legs syndrome (RLS). The study reports a case of a patient with depression and postprandial dyspepsia who developed RLS after mirtazapine was added to his domperidone therapy. The RLS symptoms resolved upon discontinuation of mirtazapine, suggesting that mirtazapine, not domperidone, may be associated with RLS in some individuals, especially those receiving concomitant dopamine D2 receptor antagonists.


UMLS:C1317565


UMLS:C0030705


UMLS:C2698070

The study investigates the effect of ritanserin, a 5-HT2 antagonist, on scopolamine-induced amnesia in adult male rats. The rats were divided into eight groups and received various treatments. The results showed that scopolamine increased escape latencies and traveled distances in a Morris water maze, indicating amnesia. However, ritanserin significantly decreased these parameters, suggesting an improvement in amnesia. Furthermore, co-administration of scopolamine and ritanserin resulted in a significant decrease in escape latencies and traveled distances compared to the scopolamine-treated rats, indicating that ritanserin improves scopolamine-induced amnesia.


UMLS:C2194043


UMLS:C2698070


UMLS:C1266733

Scopolamine and ritanserin co-administration


UMLS:C1564844

The paper discusses a case of a 70-year-old man with colon cancer who experienced cardiotoxicity, a rare side effect, during treatment with 5-Fluorouracil (5-FU). The cardiotoxicity was associated with a high serum level of alpha-fluoro-beta-alanine (FBAL), a degradation product of 5-FU. The cardiac symptoms disappeared after discontinuation of 5-FU. The patient was then treated with S-1, a derivative of 5-FU, which led to a decrease in serum FBAL concentration and no further cardiac symptoms. The paper suggests that FBAL is related to 5-FU-induced cardiotoxicity and that S-1 can be safely administered to patients with this side effect.


UMLS:C0283837


UMLS:C0141611


UMLS:C0141611

can be safely administered to patients with


MONDO:0018177

The study examined genetic alterations in primary glioblastomas in Japanese patients. The study found TP53 mutations in 22% of cases, PTEN mutations in 21% of cases, EGFR amplification in 32% of cases, and p16 homozygous deletion in 42% of cases. The frequencies of these genetic alterations were similar to those reported for primary glioblastomas in Switzerland. There was a positive association between EGFR amplification and p16 deletion, and an inverse association between TP53 mutations and p16 deletion. Radiotherapy was significantly predictive for longer survival of glioblastoma patients. The allele frequencies of polymorphisms at codon 787 CAG/CAA (Gln/Gln) in glioblastomas in Japan were significantly different from those in Switzerland. These results suggest that primary glioblastomas in Japan show genetic alterations similar to those in Switzerland, despite different genetic backgrounds.


MONDO:0018177


UMLS:C5236971


NCBIGene:7259

The study investigated the role of the TSPYL1 gene in sudden infant death syndrome (SIDS), a leading cause of death in postperinatal infants in Germany. The TSPYL1 gene has been linked to sudden infant death with dysgenesis of the testes syndrome (SIDDT). The study analyzed DNA samples from 126 SIDS cases and 261 controls, finding five sequence variations, each causing an amino acid substitution. However, no significant difference in allele frequencies between patients and controls was observed. One female patient had a p.F366L amino acid polymorphism not found in controls, but its pathogenic implication cannot be completely ruled out. The study concluded that there is no association between sequence variations in the TSPYL1 gene and SIDS in the German cohort.


NCBIGene:7259


UMLS:C0150905


NCBIGene:5999

Regulator of G-protein signaling 4 (RGS4)

The study evaluated the regulator of G-protein signaling 4 (RGS4) as a potential gene associated with schizophrenia. Three single nucleotide polymorphisms (SNPs) located at the promoter region and intron 1 of RGS4 were studied in 218 schizophrenia pedigrees of Taiwan. However, the study found no significant association between these SNPs or their haplotypes and schizophrenia, suggesting that RGS4 may not be a candidate gene for schizophrenia.


UMLS:C0752046

Single nucleotide polymorphisms (SNP4, SNP7, SNP18)


MONDO:0010897

Regulator of G-protein signaling 4 (RGS4)


NCBIGene:17685

The study investigates the molecular mechanisms behind the high frequency of germ-line genomic rearrangements in MLH1 and MSH2 genes among Lynch Syndrome patients. The research found distinct deletion patterns in the two genes. MSH2 deletions were exclusively due to intragenic unequal recombination mediated by repetitive Alu sequences. In contrast, most MLH1 deletions were due to recombinations involving sequences of no significant homology. The study suggests that Alu is a promoting factor for the genomic recombinations in both MLH1 and MSH2, and the local Alu density may be involved in shaping the deletion pattern.


NCIT:C129404


UMLS:C0301360

The study investigates the impact of MDMA (3,4-methylenedioxymethamphetamine, ecstasy) use on certain cognitive processes. It was found that MDMA polydrug users showed impairments in set shifting and memory updating, as well as in social and emotional judgement processes. These impairments were significant even after controlling for other drug use, suggesting that recreational ecstasy use may impair cognitive processes mediated by the prefrontal cortex.


UMLS:C0301360

Social and emotional judgement processes


UMLS:C0301360

may impair cognitive processes mediated by


UMLS:C0301360

The study investigates the effects of MDMA (ecstasy) use on cognitive function, specifically memory, and the potential influence of a polymorphism in the serotonin transporter promoter gene region (5-HTTLPR). The study found that heavy and ex-MDMA users performed significantly poorer on memory tasks than controls, while moderate MDMA users showed no evidence of memory impairment. No significant effect of 5-HTTLPR or gender on memory function or MDMA use was observed.


NCBIGene:3064


UMLS:C0079399


CHEMBL.COMPOUND:CHEMBL457185

The study investigates the role of thymidylate synthase (TS) genotyping as a prognostic marker in colorectal cancer patients receiving fluorouracil-based treatment. The results show that the 3R/3R genotype and TS 1494del6 allele are associated with better outcomes and survival benefits. TS protein immunostaining was not linked to survival or any of the genotypes analyzed. Therefore, the TS 1494del6 genotype may be a prognostic factor in fluorouril-based adjuvant treatment of colorectal cancer patients.


UMLS:C4554402


UMLS:C4054187


UMLS:C0017296

The paper discusses the challenges faced in developing a gene therapy for Cystic Fibrosis (CF), an inherited disorder. Despite the cloning of the cystic fibrosis transmembrane conductance regulator gene in 1989, a practical gene therapy has not been developed due to issues such as lack of suitable gene delivery technologies, complexities of interactions between the host and vector, the biology of the lung airways, and the nature of the pathology found in individuals with CF. The paper also discusses the need to identify relevant surrogate success measures to assess the outcome of gene therapy in CF patients.


NCBIGene:1080

Cystic fibrosis transmembrane conductance regulator gene


UMLS:C0017296


UMLS:C4551660


MONDO:0009061


UMLS:C0677042


UMLS:C0162488


UMLS:C2215656

Ectodermal dysplasia-skin fragility syndrome

The paper reports a unique case of ectodermal dysplasia-skin fragility syndrome, an inherited disorder, in a 6-year-old boy. The disorder is caused by a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1. The boy exhibited symptoms such as red skin at birth, skin fragility, progressive plantar keratoderma, nail dystrophy, and alopecia. A skin biopsy showed widening of intercellular spaces in the epidermis and a reduced number of small, poorly formed desmosomes. The mutation differs from the PKP1 gene pathology reported in previous cases, but all cases show similar clinical features.


PUBCHEM.COMPOUND:71563281

Ectodermal dysplasia-skin fragility syndrome


UMLS:C0291598


NCBIGene:18772


PUBCHEM.COMPOUND:643985

The study found that methadone, a drug used by injection drug users, can cause a serious adverse reaction known as drug-induced long QT syndrome. This condition was found to be prevalent in hospitalized patients receiving methadone. The study also identified several risk factors for QT prolongation, including the dose of methadone, drug-drug interactions, hypokalemia (low potassium levels), and altered liver function. The study concluded that long QT syndrome can occur even with low doses of methadone.


UMLS:C0366544


UMLS:C0947897


UMLS:C0857338


RXCUI:202508

The study investigates the mechanisms of hypertension induced by nitric oxide (NO) deficiency, with a focus on venous function. The research found that NO deficiency increases oxidative stress and sympathetic activity in both arterial and venous vessels. However, the impact on veins does not make a significant contribution to this form of hypertension. The study also found that the superoxide scavenger tempol caused a dose-dependent decrease in hypertensive rats treated with the NO synthase inhibitor LNNA.


PUBCHEM.COMPOUND:440005


PUBCHEM.COMPOUND:137994


UMLS:C0196734


UMLS:C1291293

Oxidative stress and sympathetic activity


PUBCHEM.COMPOUND:60823

Summary not provided or could not be parsed.


PUBCHEM.COMPOUND:5743


PUBCHEM.COMPOUND:60823


NCBIGene:15378

The study investigates the role of single nucleotide polymorphisms (SNPs) of the HNF4A gene, which encodes the transcription factor HNF4alpha, in the conversion from impaired glucose tolerance to type 2 diabetes mellitus. The study found that female carriers of the less frequent C allele of the SNP rs4810424 had a 1.7-fold elevated risk for the conversion to diabetes. No association was found in men. The study suggests that SNPs of HNF4A and their haplotypes predispose to type 2 diabetes mellitus in female subjects.


UMLS:C3648896


UMLS:C4289706


UMLS:C0549217

The study reports two novel mutations in the MEN1 gene in patients with multiple endocrine neoplasia type 1 (MEN1). The first mutation was found in a Turkish family, where the index patient had primary hyperparathyroidism and a prolactinoma. The mutation was a heterozygous A to G transition at codon 557 of exon 10 of MEN1, resulting in a replacement of lysine by glutamic acid. The second mutation was found in a Chinese woman living in Taiwan, who had undergone subtotal parathyroidectomy and enucleation of pancreatic islet cell tumor. The mutation was a heterozygous mutation at codon 418 of exon 9 that results in a substitution of aspartic acid by tyrosine.


UMLS:C0152035


NCBIGene:142681

Hereditary hypophosphatemic rickets with hypercalciuria (HHRH)

The study found that hereditary hypophosphatemic rickets with hypercalciuria (HHRH), a rare metabolic disorder, is caused by mutations in the SLC34A3 gene. This gene encodes the sodium-phosphate cotransporter type IIc. The researchers identified three independent deletions in introns 9 and 10 of the SLC34A3 gene in two unrelated families with HHRH. These deletions cause aberrant RNA splicing, suggesting that the SLC34A3 gene may be susceptible to unequal crossing over due to sequence misalignment during meiosis.


CHEBI:48620

The study investigates the effect of histamine H(3)-receptor ligands on neuroleptic-induced catalepsy, apomorphine-induced climbing behavior, and amphetamine-induced locomotor activities in mice. The results show that thioperamide (THP), a selective H3-receptor antagonist, does not cause catalepsy on its own but increases catalepsy times when administered prior to haloperidol. THP also reduces amphetamine-induced hyperactivity and apomorphine-induced climbing behavior. These effects of THP are reversed by (R)-alpha-methylhistamine (RAMH), suggesting the involvement of histamine H(3)-receptors. The findings suggest a potential for H(3)-receptor antagonists in improving refractory cases of schizophrenia.


CHEBI:48620


UMLS:C0958645


UMLS:C0360055


NCBIGene:1813

The study investigated the role of DRD2 gene variations in chlorpromazine-induced extrapyramidal syndrome (EPS) in Chinese schizophrenic patients. Seven single nucleotide polymorphisms (SNPs) in the DRD2 gene were identified in 146 schizophrenic inpatients treated with chlorpromazine. The study found no significant difference in the allele distribution of these SNPs or in the estimated haplotypes between patients with EPS and those without. The results suggest that DRD2 gene variations may not play a major role in the adverse effects induced by chlorpromazine in Chinese schizophrenic patients.


UMLS:C1406714


NCBIGene:1813


MESH:C476610

The study investigates the effects of a new antiepileptic drug, eslicarbazepine acetate, on seizures in rats. The drug was found to prevent seizures in 75% of the rats when administered at a dose of 30 mg/kg 2 hours before inducing seizures with picrotoxin. Lower doses did not prevent seizures but did significantly reduce the duration and number of seizures. No adverse effects were observed in the rats' behavior or EEG patterns.


MESH:C476610


PUBCHEM.COMPOUND:16196486

not significantly associated with risk of

The study investigates the association of IL1B-31T/C and -511C/T gene polymorphisms and FAS-670 polymorphisms with the risk of advanced gastric adenocarcinoma in a Japanese population. The study found no significant difference in the risk of gastric adenocarcinoma with these polymorphisms. However, the proportion of subjects with IL1B-31TT (or IL1B-511CC) increased according to the stage of the disease, suggesting that these genotypes are associated with disease progression.


UMLS:C3658787


UMLS:C0207957


UMLS:C2700557


UMLS:C1512839


NCBIGene:54633

The study found that a two base pair deletion in the PQBP1 gene is associated with a phenotype of X-linked mental retardation (MR), microphthalmia, choroid coloboma, microcephaly, renal hypoplasia, and spastic paraplegia. This mutation was found in two maternal cousins. The mutation was not found in the BCOR gene, which was initially suspected due to its association with Lenz microphthalmia syndrome, a phenotype with similar features. The same mutation is also associated with Hamel cerebropalatocardiac syndrome, another form of syndromic X-linked mental retardation (S-XLMR).


UMLS:C1838920


NCBIGene:71458


UMLS:C3494373

The study investigates the effects of Chloroacetaldehyde (CAA), a metabolite of the alkylating agent ifosfamide (IFO), on human proximal tubule cells. CAA is believed to be responsible for renal damage following anti-tumor therapy with IFO. The study found that CAA reduces cell number and protein, induces a loss in free intracellular thiols, and increases necrosis markers. It also inhibits cysteine proteases and causes an increase in lysosomal size and leakage. The effects of CAA can be reduced by acidification, suggesting that urinary acidification could be a potential treatment to prevent IFO nephropathy in patients.


UMLS:C3494373


UMLS:C1551381


UMLS:C0220761

The study reports a case of Gitelman syndrome (GS) in a dizygotic twin who initially presented symptoms of Bartter syndrome. However, mutation analysis revealed two mutations in the SLC12A3 gene, confirming the diagnosis of GS. The patient, her twin sister, and mother also had cerebral cavernous malformations. The patient's symptoms improved with potassium and magnesium supplementation, but vision remained impaired. The study suggests that electrolyte abnormalities and secondary aldosteronism may play a role in idiopathic intracranial hypertension.


UMLS:C0220761


UMLS:C2194338


MONDO:0014200

Electrolyte abnormalities and secondary aldosteronism


UMLS:C2063399

Immunosuppressed renal transplant recipients (RTRs)

The study found that immunosuppressed renal transplant recipients (RTRs) are at a higher risk of non-melanoma skin cancers (NMSCs), primarily squamous cell carcinomas (SCCs). The research identified 24 p53 gene mutations in 60% of NMSCs, with the majority being UV-specific C to T transitions. The study also found a high percentage of tandem mutations, possibly linked to the immunosuppressive drug cyclosporin A (CsA). The presence of Human Papillomas Virus (HPV) DNA was detected in 78% of skin lesions, suggesting that immunosuppression increases the risk of HPV infections, which may play a role in skin cancer development. However, no association was found between HPV status and p53 mutation.


NCBIGene:7157


UMLS:C1707606


UMLS:C0030358


UMLS:C0021079


UMLS:C0268561

The paper discusses a case of a patient with nonketotic hyperglycinemia, a disorder of amino acid metabolism, who presented with acute encephalopathy and chorea after starting valproate therapy. The patient had a mild language delay and mental retardation. Nonketotic hyperglycinemia typically presents as neonatal apnea, intractable seizures, and hypotonia, followed by significant psychomotor retardation.


UMLS:C0030705


PUBCHEM.COMPOUND:3121


UMLS:C4017541

The study found that genetic variation in the surfactant protein-A2 (SP-A2) can increase susceptibility to meningococcal disease. Specifically, individuals with the 1A1 allele of SP-A2 were found to be at higher risk, while those with the 1A5 allele were at lower risk. The risk was associated with the presence of lysine rather than glutamine at amino acid 223 in the carbohydrate recognition domain of SP-A2. This genetic variation was found in 61% of patients who died from the disease, compared to 35% of survivors.


UMLS:C2604125


UMLS:C0042333


PUBCHEM.COMPOUND:135398745

The study compared the 4-month treatment outcomes of olanzapine and risperidone in patients with first-episode schizophrenia spectrum disorders. The response rates did not significantly differ between the two treatments. However, more subjects in the olanzapine group had subsequent ratings not meeting response criteria. Negative symptom outcomes and measures of parkinsonism and akathisia did not differ between the two medications. Extrapyramidal symptom severity scores were slightly higher with risperidone. Both medications caused substantial rapid weight gain, but weight gain was greater with olanzapine.


UMLS:C2722404


PUBCHEM.COMPOUND:135398745


UMLS:C1521528

The study investigates the association between a polymorphism in the endoglin gene (ENG), specifically a 6-base insertion in intron 7 (6bINS), and the vascular complication pulmonary arterial hypertension (PAH) in patients with systemic sclerosis (SSc). The study found a significantly lower frequency of the 6bINS allele in SSc patients with PAH compared to controls and SSc patients without PAH. This suggests that ENG may play a role in this vascular complication of SSc.


UMLS:C4523463


NCBIGene:13805


PUBCHEM.COMPOUND:44340590

The study reports a novel mutation (E333D) in the thyroid hormone beta receptor (TRbeta) causing resistance to thyroid hormone (RTH) syndrome. This mutation was identified in a 22-year-old French woman who was overweight. The mutation did not affect the receptor's affinity for T3 or its ability to form a heterodimer with the retinoid X receptor (RXR) when bound to DNA. However, it did impair transcriptional regulation on two distinct thyroid response elements and the human TSHalpha promoter. The mutation also exhibited a dominant inhibition of the wild-type TRbeta counterpart transactivation function. These findings suggest that the E333D TRbeta mutation is responsible for the RTH phenotype in the patient's family.


PR:000000367

wild-type TRbeta counterpart transactivation function


NCBIGene:244667

The study reveals a connection between the DISC1 gene, previously associated with schizophrenia, and another gene, NDE1, in the same molecular pathway. The researchers found that families with the risk allele of DISC1 also showed a link to NDE1. This association was found to be significant in females. This finding supports the idea that initial gene findings in multifactorial diseases can help identify other components of complex genetic etiology.


NCBIGene:54820


NCBIGene:244667


UMLS:C0282655


NCBIGene:1543

The study investigates the association between two single nucleotide polymorphisms of the CYP1A1 gene and prostate cancer in a South Indian population. The results show that individuals with the w1/m1 genotype at 3'UTR of the CYP1A1 gene have a significantly higher risk of prostate cancer, while those with the CYP1A1 Ile/Val genotype (w2/m2) on exon 7 have a decreased risk. The w1/m1 genotype is also associated with an early age of onset.


UMLS:C1978178


MESH:C535261

The study investigates the combined effects of chronic anabolic androgenic steroid (AAS) exposure and serotonin (5-HT) depletion on the behavior of pubertal male rats. The serotonin was depleted using parachlorophenylalanine (PCPA), and testosterone was used for AAS exposure. The study found that PCPA significantly depleted 5-HT and its metabolite, 5-HIAA, in all brain regions examined. Chronic testosterone treatment also decreased 5-HT and 5-HIAA levels, but to a lesser extent. PCPA alone decreased locomotor activity and increased irritability but had no effect on sexual behavior, partner preference, or aggression. Testosterone alone had no effect on locomotion, irritability, or sexual behavior but increased partner preference and aggression. The combination of testosterone and PCPA significantly increased attack frequency and decreased the latency to attack, especially after physical provocation. This suggests that pubertal AAS users with low central 5-HT may be more prone to aggressive behavior.


PUBCHEM.COMPOUND:5995


MESH:C535261


UMLS:C2057657


UMLS:C3273300

The study investigates the role of the G51S purine nucleoside phosphorylase (PNP) polymorphism in Alzheimer's disease (AD). The distribution of this polymorphism was analyzed in a large population of AD patients and non-demented controls. The results showed no difference in the distribution between the two groups. However, when AD patients were stratified based on the rate of cognitive decline, it was found that the PNP AA genotype was more common in patients with fast cognitive deterioration. This suggests that the G51S PNP polymorphism is associated with a faster rate of cognitive decline in AD patients, indicating the importance of purine metabolism in the progression of this neurodegenerative disorder.


UMLS:C4554792

AD patients with fast cognitive deterioration


GO:0072521

progression of neurodegenerative disorder


UMLS:C0001792

The study aimed to compare the risks of hospitalization for acute myocardial infarction (AMI) and gastrointestinal (GI) bleeding among elderly patients using COX-2 inhibitors, non-selective non-steroidal anti-inflammatory drugs (NS-NSAIDs) and acetaminophen. The results showed that among non-users of aspirin, naproxen seemed to carry the highest risk for AMI/GI bleeding. The AMI/GI toxicity of celecoxib was similar to that of acetaminophen and seemed to be better than those of rofecoxib and NS-NSAIDs. Among users of aspirin, both celecoxib and naproxen seemed to be the least toxic.


UMLS:C0001792


PUBCHEM.COMPOUND:156391


PUBCHEM.COMPOUND:119828


UMLS:C2194300


MESH:D020087

The research paper investigates the genetic structure of the Basque population in Spain, using eight Alu sequences. The results show no significant genetic heterogeneity between the Basque samples or between Basques and other Europeans, excluding Caucasus populations. The genetic data contradicts theories linking the origin of Basques with North African or Caucasus populations. The reduced genetic heterogeneity among Basque subpopulations is suggested to be relatively recent and likely due to genetic admixture with non-Basque neighboring populations, influenced by a linguistic barrier to random mating.


UMLS:C0242960


UMLS:C0337796


CHEBI:60004


UMLS:C0030705

The paper discusses a case of a 25-year-old male patient with severe malaria and jaundice who developed arrhythmia (premature ventricular contraction) while receiving quinine infusion. The patient was admitted to the hospital with symptoms such as high fever, chills, vomiting, and jaundice. After 30 hours of quinine infusion, the patient experienced palpitations and an ECG showed premature ventricular contraction. The quinine infusion was discontinued and replaced with sulfate quinine tablets. The patient's condition improved and he was discharged on the 7th day. The paper highlights the need for careful administration of quinine due to its pro-arrhythmic effect, especially in older patients with heart diseases or patients with electrolyte disorders.


UMLS:C4521292


PUBCHEM.COMPOUND:9917899

The study reports the discovery of a new genetic abnormality in a 12-year-old female patient with cerebral atrophy, macrocephaly seizures, and developmental delay. The abnormality is a disruption of a synaptotagmin gene (SYT14), which is associated with changes in calcium levels and various biological processes, including neurotransmission and hormone-responsiveness. This is the first known rearrangement of SYT14, and further studies may provide insights into its role in neurodevelopment.


PUBCHEM.COMPOUND:9917899


NCBIGene:329324


PUBCHEM.COMPOUND:643985

The study investigates the relationship between methadone treatment for heroin addiction and the occurrence of syncope and QT prolongation, a condition that can lead to a serious type of irregular heartbeat. The study found that methadone dose was associated with a longer QT interval and a higher reporting of syncope among heroin addicts. No such association was found with buprenorphine, another treatment for heroin addiction.


UMLS:C1626306


PUBCHEM.COMPOUND:644073


UMLS:C0008059

Summary not provided or could not be parsed.


PR:000000165


UMLS:C0007634


NCBIGene:19296

The study aimed to identify genetic variants contributing to end-stage renal disease (ESRD) in type 2 diabetes. A genome-wide analysis was performed on 115,352 single nucleotide polymorphisms (SNPs) in 105 unrelated case subjects with ESRD and 102 unrelated control subjects with type 2 diabetes for > or =10 years without macroalbuminuria. The study identified a 200-kb region on 8q24 harboring three SNPs showing substantial differences in allelic frequency between case and control pools. The strongest evidence for association was found with rs2720709 and rs2648875, which are located in the plasmacytoma variant translocation gene PVT1. These results suggest that PVT1 may contribute to ESRD susceptibility in diabetes.


UMLS:C0966989


UMLS:C0140941


UMLS:C4068712

The study assesses the diagnostic value of a new cardiac performance index (dP/dtejc) measurement, based on brachial artery flow changes, for detecting dobutamine-induced myocardial ischemia. The study involved 40 patients undergoing Sestamibi-SPECT/dobutamine stress test. The results showed that the sensitivity of detecting myocardial ischemia improved dramatically from 16% to 79% when dP/dtejc outcome was combined with the ECG results. This combination could be a cost-saving alternative to cardiac imaging or perfusion studies to detect myocardial ischemia, especially in patients unable to exercise.


UMLS:C1527397


UMLS:C2053154

Cardiac Performance Index (dP/dtejc) and ECG


UMLS:C0887392


MONDO:0019508

The study reports a new mutation of the IRF6 gene in a German family with Van der Woude syndrome (VWS), a common type of syndromic orofacial cleft. The mutation, identified in five out of twelve affected individuals, resulted in a stop codon within exon 4 of the IRF6 gene. This mutation, referred to as Y67X, led to a truncated protein lacking parts of the DNA-binding domain and the complete Smad-interferon regulatory factor-binding domain, which is likely essential for interactions with the Smad transcription factors.


NCBIGene:54139


CHEBI:141026

DNA-binding domain and Smad-interferon regulatory factor-binding domain


MONDO:0005011

The study investigates the influence of mutations in innate immune receptor genes on the development of antimicrobial and antiglycan antibodies in inflammatory bowel disease (IBD). The research found that the presence of at least one CARD15 variant in Crohn's disease patients more frequently led to gASCA positivity and ALCA positivity. Similarly, Crohn's disease patients carrying NOD1/CARD4 indel had a higher prevalence of gASCA antibodies. However, an opposite effect was observed for the TLR4 D299G and TLR2 P631H variants, with a lower prevalence of ACCA antibodies and Omp antibodies. These findings suggest that variants in innate immune receptor genes influence antibody formation against microbial epitopes.


UMLS:C1867475


UMLS:C0429902

Variants in innate immune receptor genes

antibody formation against microbial epitopes


MESH:C516681

The study investigates a newly synthesized compound, maltolyl p-coumarate, for its potential in enhancing cognitive function and neuroprotection. The compound was found to improve cognitive decline in scopolamine-injected rats and amyloid beta peptide(1-42)-infused rats. It also reduced apoptotic cell death in the hippocampus of the amyloid beta peptide(1-42)-infused rats. In vitro tests using SH-SY5Y cells showed that maltolyl p-coumarate decreased apoptotic cell death and reduced reactive oxygen species, cytochrome c release, and caspase 3 activation. These findings suggest that maltolyl p-coumarate could be a potential candidate against Alzheimer's disease.


MESH:C516681


NCBIGene:20656

The study investigates the association of manganese superoxide dismutase gene (Mn-SOD) polymorphism with the risk of urolithiasis, a condition involving stone formation in the renal system. The study found that a valine (Val) to alanine (Ala) substitution at amino acid 16 in the MnSOD gene increases the risk of urolithiasis. The study involved 66 stone-forming adults and 72 healthy volunteers, and found that the distribution of the Ala/Val and homozygote Val alleles was significantly higher in the patient group than in the control group.


UMLS:C3506479

Val to Ala substitution at amino acid 16


UMLS:C4554545


MONDO:0007254

The study investigates the relationship between common genetic variations in antioxidant defense genes and survival rates in women diagnosed with breast cancer. The research focused on 54 polymorphisms in 10 genes involved in oxidative damage repair. Two single nucleotide polymorphisms (SNPs) in the GPX4 gene were found to be associated with all-cause mortality. The common allele of these SNPs is preferentially expressed in normal lymphocytes, normal breast, and breast tumors compared to the rare allele. The study concludes that common variation in GPX4 is associated with prognosis after a diagnosis of breast cancer.


NCBIGene:2884


NCBIGene:625249

Common allele of GPX4 rs713041 and rs757229

normal lymphocytes, normal breast, and breast tumors


NCBIGene:14619

The study investigates the role of mutations in different connexin genes in causing hearing impairment. The research involved screening 47 Hungarian patients with hearing impairment who had one mutation in the coding exon of the GJB2 gene. The study found that 11 out of these 47 patients carried the splice site mutation -3170G>A in the 5'UTR region of GJB2. Additionally, the study found 2 cases of deletion in GJB6 and 3 base substitutions in GJB3, which are unlikely to cause disease. The results suggest the importance of routine screening for the -3170G>A mutation in patients with hearing impairment.


UMLS:C3484268


NCBIGene:100126825


UMLS:C5380625


UMLS:C3179033

The study presents an improved tetra-primer PCR assay for detecting the FGFR3 G380R mutation, which is responsible for achondroplasia, the most common form of dwarfism. The assay can detect both the c.1138G>A and c.1138G>C mutations and can distinguish between homozygous and heterozygous DNA samples for the c.1138G>A mutation. The assay has been tested and shows complete concordance with previous methods. It is sensitive, low-cost, and easy to use, making it suitable for use in "low-tech" laboratories.


UMLS:C1510438


UMLS:C5189089

The study investigates lamivudine-resistant hepatitis B virus (HBV) strains in lamivudine-naïve HBV carriers with and without HIV co-infection in South African patients. The study found that HBV lamivudine-resistant strains were detected in 3 of 15 mono-infected chronic hepatitis B patients and 10 of 20 HBV-HIV co-infected patients. This is the first report of HBV lamivudine-resistant strains in therapy-naïve HBV-HIV co-infected patients. The implications of these findings could be significant for the management of HBV-HIV co-infected patients, especially with the widespread use of lamivudine-containing highly active antiretroviral (ARV) treatment (HAART) regimens in South Africa.


UMLS:C5189089


UMLS:C4505456

Highly active antiretroviral (HAART) regimens


UMLS:C5574997

The study investigates the molecular mechanisms by which female hormones influence cholesterol metabolism in macrophages in response to the HIV protease inhibitor ritonavir. The research found that estrogen (E2) decreases the accumulation of cholesteryl esters in macrophages following ritonavir treatment. Ritonavir increases the expression of the scavenger receptor, CD36 mRNA, responsible for the uptake of LDL. However, E2 suppresses CD36 protein levels, resulting in reduced cholesteryl ester accumulation following ritonavir treatment.


UMLS:C5574997


UMLS:C0014919


NCBIGene:18511

The study identified a new mutation in the PAX9 gene in a family with nonsyndromic oligodontia, a condition characterized by the absence of six or more teeth. The mutation, a C139T transition, results in the substitution of an arginine by a tryptophan (R47W) in the PAX9 protein. This mutation significantly reduces the protein's ability to bind to DNA, suggesting that the mutation leads to the oligodontia phenotype due to insufficient protein function.


UMLS:C3510954


UMLS:C0220485


UMLS:C0337910

The study investigates the molecular basis of Focal dermal hypoplasia (FDH), also known as Goltz syndrome, in a 2-year-old Thai girl. The disorder is characterized by abnormalities in various body parts and is caused by mutations in the PORCN gene. The researchers identified a new de novo nonsense mutation, p.E300X, in the PORCN gene of the patient, which was not present in either of her parents or in 100 control chromosomes. This discovery confirms the diagnosis of FDH in the child and emphasizes the importance of PORCN and Wnt signalling pathways in embryogenesis.


NCBIGene:64840


UMLS:C3250880

The study investigates the link between a common substitution in the MLH1 gene and the risk of developing cancer after undergoing methylating chemotherapy for Hodgkin lymphoma. The results showed that the frequency of the MLH1 -93 variant was higher in patients who developed therapy related acute myeloid leukaemia (t-AML) or breast cancer after the chemotherapy compared to those without previous methylating exposure. The variant was also over-represented in t-AML cases compared to de novo AML cases and healthy controls. The data suggests that the MLH1 -93 variant may increase the risk of developing t-AML, but only in patients previously treated with a methylating agent.


MESH:D008780


UMLS:C5206888


UMLS:C5555112


UMLS:C2010854

The study investigates a new variant of apolipoprotein E (apoE) associated with Lipoprotein glomerulopathy (LPG), a rare disease characterized by thrombus-like substances in dilated glomerular capillaries and elevated plasma levels of apoE. The research was conducted on a Chinese family with 4 LPG patients. A novel point mutation in exon 4 of the apoE gene was identified in all 4 LPG patients and 1 asymptomatic family member. This mutation, named apoE Guangzhou, denotes an amino acid substitution of the proline residue for arginine residue at position 150 of apoE. The study suggests that apoE Guangzhou is etiologically related to LPG and may cause a marked molecular conformational change of the apoE, impairing its binding ability to lipids.


UMLS:C2010854

causes molecular conformational change in


UMLS:C0003595


UMLS:C5238336

The study aimed to identify susceptibility genes contributing to childhood-onset systemic lupus erythematosus (SLE) using a novel candidate gene pathway microarray platform. The platform was designed with 9,412 single-nucleotide polymorphisms (SNPs) from 1,204 genes. The study found a significant association of SLE with a N673S polymorphism in the P-selectin gene (SELP) and a C203S polymorphism in the interleukin-1 receptor-associated kinase 1 gene (IRAK1). Seven additional SNPs showed potential association with SLE, including TNFRSF6 (Fas) and IRF5. The study identified SELP and IRAK1 as novel SLE-associated genes, suggesting new directions in understanding the pathogenesis of SLE.


UMLS:C1866968


NCBIGene:6403


NCBIGene:16179


PUBCHEM.COMPOUND:2474

The study investigates the effects of bupivacaine and lidocaine on pain and inflammation in patients undergoing third molar extraction. It was found that bupivacaine, when combined with rofecoxib, resulted in significantly less pain in the first 4 hours post-surgery. However, bupivacaine alone led to increased pain at 24 hours and higher levels of prostaglandin E2 (PGE2) during the first 4 hours. Bupivacaine also significantly increased cyclooxygenase-2 (COX-2) gene expression at 48 hours. These results suggest that bupivacaine stimulates COX-2 gene expression after tissue injury, leading to higher PGE2 production and pain after the local anesthetic effect dissipates.


PUBCHEM.COMPOUND:2474


UMLS:C3862797


UMLS:C2930861

The study investigated the association of mutations in four meiotic genes (DMC1, MSH4, MSH5, and SPO11) with premature ovarian failure (POF) in women. The researchers sequenced genomic DNA from blood samples of 41 women with POF and 36 fertile women. They found a single heterozygous missense mutation in the MSH5 gene in two Caucasian women with POF. Another POF patient of African origin showed a homozygous nucleotide change in the DMC1 gene. These findings suggest that mutations in MSH5 and DMC1 genes may be one explanation for POF, albeit uncommon.


UMLS:C0425356


UMLS:C4286026


UMLS:C4726640


UMLS:C0035173

The study investigates the role of mutations in acetylcholine receptor-related genes in multiple pterygium syndromes (MPS)/fetal akinesia, a group of congenital anomaly disorders. The researchers analyzed 15 cases of lethal MPS/fetal akinesia without CHRNG mutations for mutations in the CHRNA1, CHRNB1, CHRND, and RAPSN genes. No mutations were detected in CHRNA1, CHRNB1, or CHRND, but a homozygous RAPSN frameshift mutation was identified in a family with three children affected with lethal fetal akinesia sequence. The study suggests that while incomplete loss of rapsyn function may cause congenital myasthenia, a more severe loss of function can result in a lethal fetal akinesia phenotype.


NCBIGene:5913


GO:0030160


NCBIGene:6041

The study investigates the association between RNASEL gene variation and the high risk of prostate cancer in Afro-Caribbeans from Tobago. The researchers sequenced the RNASEL gene and its inhibitor ABCE1 in prostate cancer cases and controls. They found no significant association between common variations in the RNASEL gene or its inhibitor and the risk of prostate cancer in this population.


UMLS:C0071197


UMLS:C3511160


PUBCHEM.COMPOUND:90682879


PUBCHEM.COMPOUND:71714682


PR:000000165

The study investigates the effects of bone morphogenetic proteins (BMP)-4 on gonadotrophin mRNA and secretion in mouse LbetaT2 gonadotrophs. The results show that BMP-4 enhances the activin+GnRH-induced stimulation of FSHbeta mRNA and FSH secretion, but reduces LHbeta mRNA up-regulation in response to GnRH. This suggests that BMPs are important modulators of activin and/or GnRH-stimulated gonadotrophin synthesis and release. The study also highlights species differences in these effects, which could be related to differences in BMP receptor expression in gonadotrophs.


PR:000000165


UMLS:C1257677

The study evaluated the nephrotoxicity associated with amikacin, an aminoglycoside antibiotic, in adult patients with hematologic/oncologic disorders. The patients were randomized to receive either conventional or extended-interval amikacin. The occurrence of nephrotoxicity, assessed by an increase in serum creatinine, was similar in both groups. However, six patients in the conventional group had a positive culture, compared to none in the extended-interval group.


UMLS:C0002500


NCBIGene:2271

The paper introduces an online database of fumarate hydratase (FH) mutations, which are involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency. FH is an enzyme involved in cellular energy production, and its deficiency results in early onset, severe encephalopathy. The database includes 107 variants, 93 of which are thought to be pathogenic. The most common type of mutation is missense, followed by frameshifts & nonsense, and diverse deletions, insertions and duplications. The database aims to unify all current genetic knowledge of FH variants, which could assist clinical geneticists, treating physicians, and research scientists.


NCBIGene:2271


UMLS:C5401411


NCBIGene:6657

The study investigated the SOX2 and CHX10 genes in 34 patients with anophthalmia and/or microphthalmia. Two new mutations and two sequence variants were found in the SOX2 gene. One mutation resulted in a change from glutamic acid to a stop codon, and the other caused a frameshift and premature termination of the coding sequence. These changes may lead to loss of function. A novel nucleotide substitution was also found in one patient, but its relationship to protein function is unclear. A known single nucleotide polymorphism was detected in two patients. In the CHX10 gene, two synonymous sequence variants and one non-synonymous sequence variant were found. The non-synonymous polymorphism was also present in healthy controls, suggesting it is not causal. The results support the role of SOX2 in eye development and suggest that loss of SOX2 function can cause severe eye malformation.


NCBIGene:338917


UMLS:C4727309


UMLS:C3862386


UMLS:C4289706

The study aimed to investigate the presence of germline mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene in children and adolescents with sporadic pituitary adenomas. The study included 36 patients, all of whom were diagnosed before the age of 18. A heterozygous in-frame deletion Y248del (c.742_744delTAC) was identified in one patient with a GH-secreting adenoma. The study suggests that germline AIP mutations can be found in children and adolescents with GH-secreting tumours, even if there is no family history of the disease.


PR:000050410

The study found a significant association between the -1607 promoter polymorphism of the MMP1 gene and Degenerative Disc Disease (DDD) in Southern Chinese individuals. The presence of the D allele for this polymorphism makes individuals about 1.5 times more likely to develop DDD, especially those over 40 years of age. However, disc bulge, annular tear, and Schmorl's nodes were not associated with this polymorphism.


UMLS:C5212522


UMLS:C5212522

Disc bulge, Annular tear, Schmorl's nodes


UMLS:C3474934

The study investigates the anticonvulsant activity of N-(2-propylpentanoyl)urea (VPU) and its effects on hippocampal amino acid neurotransmitters in rats. The results show that VPU is more potent than its parent compound, valproic acid (VPA), in protecting rats against pilocarpine-induced seizures. Both VPU and VPA were found to completely abolish pilocarpine-evoked increases in extracellular glutamate and aspartate, while also reducing the levels of GABA and glycine. The study suggests that the anticonvulsant activity of VPU and VPA is due to their ability to drastically reduce the levels of glutamate and aspartate.


PUBCHEM.COMPOUND:3121


UMLS:C3474934


UMLS:C2698418

The study investigates the role of genetic polymorphisms in the NQO1 and CBR3 genes in the development of anthracycline-related congestive heart failure (CHF) in childhood cancer survivors. The study found no association between the NQO1*2 polymorphism and the risk of CHF. However, there was a trend towards an association between the CBR3 V244M polymorphism and the risk of CHF. The CBR3 V244M polymorphism may increase the risk of CHF by increasing the production of cardiotoxic anthracycline alcohol metabolites.


UMLS:C3510371


UMLS:C3510371

Cardiotoxic anthracycline alcohol metabolites


NCBITaxon:3568

The study investigates the clinical, ophthalmic, and genetic characteristics of lattice corneal dystrophy type I (LCDI) in a Chilean family. Six affected family members were examined and their genomic DNA was extracted for analysis. The study found that the age of onset of the disease decreased in succeeding generations, a phenomenon known as anticipation. The R124C mutation in the TGFBI gene was found to be associated with LCDI in the family. This is the first report of a molecular analysis of LCDI in Chilean patients.


UMLS:C3695076


UMLS:C0079411


PUBCHEM.COMPOUND:445643

The study discusses the case of an 8.5-year-old male pediatric renal transplant recipient who developed brachial neuritis, a neurotoxic effect, due to the use of Tacrolimus (TAC), an immunosuppressive agent. Despite reducing the TAC dose and administering Intravenous Immunoglobulin (IVIG) and methylprednisolone, the symptoms persisted for three months. The patient's condition improved and eventually fully recovered only after TAC was completely discontinued and replaced with everolimus.


PUBCHEM.COMPOUND:445643


UMLS:C5420424


UMLS:C2063399


UMLS:C0003440

The study investigates the effects of antithrombin, a plasma inhibitor of coagulation factors, on rats with puromycin aminonucleoside-induced nephrosis, an experimental model of human nephrotic syndrome. The results show that antithrombin treatment attenuates the hematological abnormalities, renal dysfunction, and hyperlipidemia induced by puromycin aminonucleoside. It also reduces renal damage and suppresses apoptosis of renal tubular epithelial cells. The study suggests that thrombin plays a significant role in the pathogenesis of puromycin aminonucleoside-induced nephrotic syndrome and that antithrombin treatment may be effective in patients with nephrotic syndrome.


UMLS:C0003440


UMLS:C0003440

Apoptosis of renal tubular epithelial cells


UMLS:C2240523

plays an important role in the pathogenesis of


UMLS:C4086228

The study found that curcumin, the active component of turmeric, inhibits the growth of bladder cancer cells and induces apoptosis. It does this by decreasing the expression of the proapoptotic protein survivin and the angiogenic proteins VEGF and VEGFR1. The study also found that curcumin down-regulates Sp1, Sp3, and Sp4 proteins, which are dependent on specificity protein (Sp) transcription factors. This down-regulation also inhibits NF-kappaB-dependent genes such as bcl-2, survivin, and cyclin D1. In addition, curcumin was found to decrease bladder tumor growth in mice.


UMLS:C4086228


MESH:D017208

The study conducted a detailed spectral analysis of penicillin-induced epileptiform activity in anesthetized Wistar rats. The rats were anesthetized and connected to an electrocorticogram setup. After a short period of basal activity recording, epileptic focus was induced by injecting penicillin-G potassium. The study found that the most affected frequency bands were delta, theta, beta-2 and gamma-2 bands during the epileptiform activity. There were marked differences in terms of spectral densities between three investigated episodes (basal activity, latent period and epileptiform activity).


MESH:D017208


UMLS:C0236118


UMLS:C3506405

Nucleotide insertion of c.1146+25insA in exon 6

The study investigated the prevalence of GATA4 gene mutations in 486 Chinese patients with congenital heart disease (CHD). Nine distinct mutations were identified in 12 of the patients, with a nucleotide insertion of c.1146+25insA in exon 6 detected in five patients with ventricular septal defect (VSD), but not in healthy controls. The findings provide insight into the correlation between GATA4 genotype and CHD phenotype in Chinese patients.


NCBITaxon:10114

The study found that rats fed a high fat diet (HFD), which induced obesity, were highly sensitive to cardiotoxicity caused by the chemotherapy drug doxorubicin. This was due to increased oxidative stress, decreased cardiac fatty-acid oxidation, decreased ATP generation, and downregulation of the cardioprotective JAK/STAT3 pathway. The obese rats showed higher cardiotoxicity, cardiac dysfunction, lipid peroxidation, and 80% mortality rate without significant renal or hepatic toxicity.


MESH:D008820


MONDO:0011122


UMLS:C4091209

The study investigates the clinical and genetic features of a Thai family with non-autoimmune hyperthyroidism (NAH) caused by an activating germline mutation in the thyrotropin receptor (TSHR) gene. The mutation, a heterozygous germline T to C transition in exon 10 of the TSHR gene, was identified in a father and his two children. The affected individuals presented with different clinical severity and variable age of onset. In addition to hyperthyroidism, they also had ventriculomegaly and bilateral shortening of the fifth metacarpal bones and the middle phalanges of the fifth fingers. These might be characteristic features of NAH due to the TSHR germline mutation.


UMLS:C4521336


NCBIGene:19116

The study identifies a gain-of-function mutation in the prolactin receptor (PrlR) gene in women with benign breast tumors, specifically multiple fibroadenomas (MFA). This mutation, a single nucleotide polymorphism in exon 6 of the PrlR gene, results in an Ile(146)-->Leu substitution in the receptor's extracellular domain. This mutation confers constitutive activity to the receptor, leading to prolactin-independent activation of various cellular processes. This is the first description of a functional mutation of the PrlR associated with a human disease. The study also suggests that a specific PrlR antagonist could potentially reverse the effects of this mutation, opening up new therapeutic approaches for MFA.


PUBCHEM.COMPOUND:7021816


NCBIGene:24684


UMLS:C1268855


PUBCHEM.COMPOUND:3779

The study investigates the mechanism of myocardial damage induced by isoproterenol, a drug that is known to cause severe alterations in the structural integrity of the sarcolemma of cardiomyocytes. The study found that isoproterenol affects sarcolemmal stability through changes in the dystrophin-glycoprotein complex (DGC) and integrins. Dystrophin was found to be the most sensitive among the structures connecting the actin in the cardiomyocyte cytoskeleton and the extracellular matrix. The loss of dystrophin leads to sarcomeric actin dissolution and subsequent breakdown of other proteins. This explains the severe alterations in the structural integrity of the sarcolemma of cardiomyocytes and hence severe and irreversible injury induced by isoproterenol.


PUBCHEM.COMPOUND:3779


HP:0030098


UMLS:C0544956


PUBCHEM.COMPOUND:3779

causes severe alterations in the structural integrity of


UMLS:C0037177

The study aimed to determine the prevalence of alkaptonuria in the UAE population and identify the genotype of affected individuals. Out of 2857 children who provided urine samples, one was found to be highly positive for homogentisic acid, indicating alkaptonuria. Further genetic testing revealed a single nucleotide deletion c.342delA, located in exon 3, in the HGD gene in the affected family. This mutation, known as R58fs, is believed to be old and widespread. The study suggests that alkaptonuria may be more common than previously thought.


NCBIGene:15233


MONDO:0008753


UMLS:C0008059

The study investigates the role of mutations in phospholipase C epsilon 1 (PLCE1) in causing diffuse mesangial sclerosis, a kidney disease. Three children from a consanguineous family of Pakistani origin with the disease were found to have homozygous mutations in PLCE1. However, the asymptomatic father of two of the children also had the same mutation, suggesting that the mutation in PLCE1 alone is not sufficient to cause the disease. The researchers suggest that other compensatory mutations may be involved.


UMLS:C2136465


UMLS:C5205628


NCBIGene:18015

Summary not provided or could not be parsed.


MONDO:0018208


UMLS:C0473571


NCBIGene:7157

Ovarian carcinomas with serous differentiation


UMLS:C3484238

The study aimed to evaluate the relationship between gene polymorphisms in the renin-angiotensin system and serotonin transporter with hemodynamic parameters and heart rate variability during a head-up tilt test (HUT) in patients with vasovagal syncope. The study found that the AA genotype of A 1166C polymorphism was associated with lower minimal systolic and diastolic blood pressure during HUT compared to other genotypes. The AA genotype was also associated with higher SDNN compared to other genotypes in the early phase of HUT and at syncope occurrence. The AA genotype of A 1166C polymorphism in the ATR1 gene may be associated with hypotension and decline in sympathetic tone during HUT, suggesting a potential role in genetic predisposition to vasovagal syncope.


UMLS:C3484238

hypotension and decline in sympathetic tone


NCBIGene:7298

The study investigates the effect of three polymorphisms of the thymidylate synthase (TS) gene on the survival of colorectal cancer (CRC) patients undergoing 5 fluorouracil (5FU) chemotherapy. The polymorphisms studied include a 28 bp variable number of tandem repeats (VNTR), a G/C single nucleotide polymorphism (SNP), and a deletion of 6 bp at position 1494. The study found that these polymorphisms alone did not affect overall or progression-free survival. However, certain combinations of these polymorphisms were associated with different survival outcomes. Specifically, the combination of high TS expression genotypes G&6+/6+ was identified as high risk in CRC patients treated with 5FU.


UMLS:C0752046

G/C single nucleotide polymorphism (SNP)


UMLS:C4554543


NCBIGene:5027

The study investigates the gene P2RX7, located in the chromosomal region 12q24, which has been previously reported as a susceptibility gene for bipolar disorder and unipolar depression. The study focused on the non-synonymous SNP rs2230912, which has been suggested to be pathogenically relevant. However, the study found no association between rs2230912 or any other SNPs genotyped across P2RX7 with mood disorder, bipolar or unipolar disorder. The study also found no evidence of rare variants at P2RX7 that could explain the linkage in two chromosome 12-linked bipolar-Darier families.


UMLS:C0140952


NCBIGene:5027


UMLS:C1840176

The study aimed to determine if IGF-1 gene polymorphisms are associated with the growth hormone (GH) dose in GH-deficient adults. The study involved 133 German adult patients with GH-deficiency of different origins. The patients received GH treatment for 12 months. The study found that except for rs1019731, which showed a significant difference of IGF-1-SDS by genotypes, all polymorphisms showed no associations with the GH-doses, IGF-1 concentrations, IGF-1-SDS and IGF-1:GH ratio. Therefore, the study concluded that genetic variations of the IGF-1 gene do not seem to be major influencing factors of the GH-IGF-axis causing variable response to exogenous GH-treatment.


PUBCHEM.COMPOUND:44279834

showed a significant difference by genotypes


NCBIGene:3479


UMLS:C0030705

The paper discusses three cases of Osteogenesis imperfecta (OI) type III, a heritable bone disorder, in a 15-year-old boy and two girls aged 17 and 7. These patients suffered from intracranial hemorrhage, brachydactyly, and nail hypoplasia. The cause of OI in these patients was identified as glycine mutations affecting exon 49 of the COL1A2 gene, which codes for the collagen type I alpha 2 chain. The study suggests that mutations in this region carry a high risk of abnormal limb development and intracranial bleeding.


UMLS:C0030705


UMLS:C3475452

Glycine mutations in exon 49 of the COL1A2 gene


UMLS:C4029781

High risk of abnormal limb development and intracranial bleeding


UMLS:C0195893

The study compared the results of stereotactic unilateral pallidotomy and subthalamotomy in advanced idiopathic Parkinson's disease (PD) patients who were resistant to medical treatment. Ten patients with similar disease characteristics were selected and underwent either pallidotomy or subthalamotomy. Both procedures resulted in significant improvement in all contralateral major parkinsonian motor signs. Levodopa equivalent daily intake was significantly reduced in the subthalamotomy group. Cognitive functions remained unchanged in both groups. Complications were observed in two patients. The study suggests that lesions of the unilateral STN and GPi are equally effective treatment for patients with advanced PD refractory to medical treatment.


UMLS:C0198101


UMLS:C0195893


NCBIGene:14238

The study investigates the role of the FOXF2 gene in disorders of sex development (DSD) and cleft palate. The FOXF2 gene was previously found to be highly expressed in human foreskin and its absence in mice led to cleft palate and underdeveloped genital tubercle. The researchers hypothesized that mutations in the FOXF2 gene could be present in humans with DSD and cleft palate. They analyzed the FOXF2 gene in 18 children with DSD and cleft palate and compared it with 20 normal controls. They found two unique DNA sequence variations in one patient each, which were not present in the controls. However, most of the detected sequence alterations were polymorphisms without obvious functional relevance. The researchers concluded that the two unique DNA sequence alterations could potentially affect FOXF2 on the mRNA or protein level, contributing to the observed disturbances in genital and palate development.


NCBIGene:14238


UMLS:C5236477

Disorders of sex development (DSD) and Cleft palate


UMLS:C1882417


NCBIGene:4280

The study investigates the treatment of Warfarin-associated intracerebral hemorrhage (W-ICH), a severe type of stroke, using a mouse model. The research shows that rapid reversal of anticoagulation using human prothrombin complex concentrate (PCC) can reduce hemorrhagic blood volume. The mice were treated with warfarin and then administered with PCC or saline. The results showed a significant reduction in hemorrhagic blood volume in PCC-treated animals compared to saline controls. The study suggests PCC as an effective acute treatment for W-ICH in terms of reducing hemorrhagic blood volume.


UMLS:C1527323


CHEBI:8583

Human prothrombin complex concentrate (PCC)


CHEBI:8583


MESH:D000077330


UMLS:C0030705

The study presents findings on reversible inferior colliculus lesions in patients diagnosed with metronidazole-induced encephalopathy. The patients had been taking metronidazole to treat infections in various organs. Initial brain MRIs showed abnormal high signal intensities in various areas, including the dentate nucleus and inferior colliculus. Follow-up MRIs showed that all lesions in the dentate, inferior colliculus, pons, and medullas had been resolved completely after discontinuation of metronidazole administration, except for one patient where the corpus callosal lesion persisted.


PUBCHEM.COMPOUND:4173


UMLS:C1401195


UMLS:C0030705


NCBITaxon:41773

The study identified novel compound heterozygous mutations, c.892C>T and c.1072T>C, in the carbohydrate sulfotransferase gene (CHST6) in a Chinese family with macular corneal dystrophy (MCD). These mutations were found to contribute to the loss of CHST6 function, leading to abnormal metabolism of keratan sulfate (KS) that deposited in the corneal stroma. The mutations were not detected in any of the 100 control subjects.


UMLS:C5239322


UMLS:C4234662

abnormal metabolism of Keratan sulfate (KS)


UMLS:C0342837

Abnormal metabolism of Keratan sulfate (KS)


NCBIGene:84572

The study identified six new mutations in the GNPTG gene in patients with Mucolipidosis type III (MLIII), an autosomal recessive disorder affecting lysosomal hydrolase trafficking. These mutations include missense and nonsense mutations, a transition in the intron 8 acceptor splice site, and three microdeletions. The study also found that the mutations altered splicing, leading to the production of two distinct aberrantly spliced forms. The study also found that a 33-bp genomic deletion had elicited nonsense-mediated mRNA decay (NMD), resulting in failure to synthesize GNPTG protein.


UMLS:C4688597


PR:000020932

Aberrantly spliced forms (p.G204_K247del, p.G204VfsX28)


UMLS:C0751282

The study reports a new splice site mutation in the DGUOK gene, which is associated with mitochondrial DNA depletion and a hepatocerebral phenotype. This mutation was identified in three patients from two North-African consanguineous families. The mutation results in a larger protein with an in-frame insertion of 20 amino acids, disrupting the protein's ability to bind purine deoxyribonucleosides. This is the first founder mutation identified in a North-African population.


UMLS:C0238604


MESH:C120255

The study investigates the cardioprotective effects of salvianolic acid A on isoproterenol-induced myocardial infarction in rats. The results showed that isoproterenol-treated rats had increased levels of certain enzymes and decreased activities of antioxidative parameters. These rats also showed declines in left ventricular systolic pressure and other heart-related parameters. However, administration of salvianolic acid A for 8 days significantly reduced these effects, improved mitochondrial respiratory function, and confirmed its protective role against myocardial damage through histopathological examination.


PUBCHEM.COMPOUND:3779


MESH:C120255


PR:000001237

The study reveals that the melanocortin system, specifically the melanocortin receptor type 4 (MC4R), plays a significant role in regulating insulin signaling. This is achieved through its effects on c-Jun N-terminal kinase (JNK). The melanocortin agonist NDP-MSH was found to inhibit JNK activity and IRS-1(ser307) phosphorylation, while enhancing insulin-stimulated AKT phosphorylation and glucose uptake. These effects were reversed by a specific melanocortin receptor antagonist.


MESH:C040237


UMLS:C3509750

The study investigates the frequency of an angiotensin converting enzyme (ACE) gene polymorphism in Turkish asthmatic patients and its impact on disease severity. The results showed a higher frequency of the ACE DD gene mutation in asthmatic patients compared to non-asthmatics, suggesting that this gene polymorphism may be a risk factor for asthma. However, it does not increase the severity of the disease.


UMLS:C3509750


UMLS:C0035173

The study identifies a gene, MKS3/TMEM67, responsible for a subset of patients with Nephronophthisis (NPHP) and associated liver fibrosis. The researchers performed a genome-wide linkage search in a consanguineous family with three affected patients and identified a homozygous missense mutation in the MKS3/TMEM67 gene. Further examination of a worldwide cohort of 62 independent patients with NPHP and associated liver fibrosis revealed four novel mutations in five of them. These mutations are exclusively missense mutations, suggesting they may represent hypomorphic alleles, leading to a milder phenotype compared with the more severe Meckel-Gruber syndrome (MKS) or Joubert syndrome (JBTS) phenotype.


UMLS:C2350277


UMLS:C0962969

The study investigates the efficacy of RAD001, an oral inhibitor of the mammalian target of rapamycin (mTOR), in patients with advanced non-small-cell lung cancer (NSCLC) who have previously been treated with chemotherapy alone or with chemotherapy and EGFR inhibitors. The results show that RAD001 has modest clinical activity in these patients, with an overall response rate of 4.7%. The drug was well tolerated, with common side effects including fatigue, dyspnea, stomatitis, anemia, and thrombocytopenia. The study also found that phospho AKT (pAKT) was a significant independent predictor of worse progression-free survival.


UMLS:C0962969


UMLS:C1667732


NCBIGene:135

The study investigates the role of the Adenosine A(2A) receptor gene (ADORA2A) in Autism Spectrum Disorders (ASDs). The gene is associated with panic disorder and is strongly expressed in the caudate nucleus, which is also involved in ASD. The study found nominal association with ASD for the rs2236624-CC variant of the gene, and phenotypic variability in ASD symptoms was influenced by rs3761422, rs5751876 and rs35320474 variants. The study also replicated the association of ADORA2A variants with anxiety in individuals with ASD.


PUBCHEM.COMPOUND:86281413


NCBITaxon:1773

Multidrug-resistant tuberculosis (MDR TB)

The study reports on the molecular surveillance of multidrug-resistant tuberculosis (MDR TB) in Europe from 2003 to mid-2007. A total of 2,494 cases of MDR TB were reported from 24 European countries. Epidemiologic and molecular data were linked for 593 cases, and 672 DNA fingerprint patterns were reported from 19 countries. Of these patterns, 288 belonged to 18 European clusters; 7 clusters were characterized by strains of the Beijing genotype family. Both clustering and the Beijing genotype were associated with strains originating in eastern European countries.


UMLS:C0079247


UMLS:C4042832


UMLS:C4321356


UMLS:C0743247

The study found that ecstasy users have significant impairments in learning and memory performance compared to controls and cannabis users. This was associated with specific neural alterations in various brain regions, as measured by functional magnetic resonance imaging (fMRI) during a face-learning task. The ecstasy users showed hyperactivity in several brain regions and hypoactivity in the right dorsal anterior cingulated cortex (ACC) and left posterior cingulated cortex. Some of these effects may be attributed to cannabis use, but others are specific to ecstasy use, possibly due to the neurotoxic effects of ecstasy on certain brain regions.


UMLS:C1268848


UMLS:C0256371

The study investigates the role of protein kinase C (PKC) isoform, PKCalpha, in endometrial adenocarcinoma. The findings suggest that PKCalpha is crucial for endometrial tumorigenesis by regulating the expression of CDK inhibitors p21 and p27 and activating Akt and ERK-dependent proliferative pathways. Depletion of PKCalpha in Ishikawa cells resulted in slower growth, fewer colonies, and impaired tumor formation. The study also found that PKCalpha knockdown reduced Akt phosphorylation and ERK activation. Aberrant PKCalpha expression was observed in Grade 1 endometrioid adenocarcinoma, suggesting that targeting PKCalpha could provide new therapeutic options for endometrial tumors.


UMLS:C0256371


UMLS:C0597696

Bilateral ischemia of the globus pallidus

The paper presents a case of a 31-year-old man who suffered bilateral ischemia of the globus pallidus due to excessive alcohol and intranasal cocaine use. This is a unique case as drug-related globus pallidus infarctions are usually associated with heroin use, not cocaine. The most likely causes of cerebral hypoperfusion in this patient were transient cardiac arrhythmia or respiratory dysfunction related to cocaine and/or ethanol use.


PUBCHEM.COMPOUND:446220

Transient cardiac arrhythmia or respiratory dysfunction


PUBCHEM.COMPOUND:446220


UMLS:C0030705

developed after initiating treatment with Levofloxacin

The paper presents a case of a patient who experienced seizures after starting treatment with levofloxacin. The researchers discuss the potential drug-drug interactions related to the inhibition of cytochrome P450 (CYP) 1A2 in this case and in other reported cases of levofloxacin-induced seizures. The study found six cases of seizures induced by levofloxacin in the literature, suggesting that drug-drug interactions related to the inhibition of CYP1A2 by levofloxacin are likely involved in these cases. The paper advises clinicians to be cautious when initiating levofloxacin therapy in patients taking medications with epileptogenic properties that are CYP1A2 substrates.


UMLS:C4511692


UMLS:C0871685

should pay close attention when initiating


CHEBI:39462

The study found that pilocarpine significantly delayed the onset of arrhythmias, decreased the time course of ventricular tachycardia and fibrillation, reduced arrhythmia score, and increased the survival time of arrhythmic rats and guinea pigs. The antiarrhythmic effects of pilocarpine were found to be due to its stimulation of the cardiac M(3)-muscarinic acetylcholine receptor (mAChR), which improved calcium handling in the cells.


CHEBI:39462


CHEBI:39462

M(3)-muscarinic acetylcholine receptor (mAChR)


MESH:C502407

The study investigates the antipsychotic-like properties of the glycine transporter-1 (GlyT1) inhibitor, SSR103800. The results show that SSR103800 blocked hyperactivity induced by the non-competitive NMDA receptor antagonist, MK-801 and partially reversed spontaneous hyperactivity of NMDA Nr1(neo-/-) mice. However, it did not affect hyperactivity induced by amphetamine or naturally observed in dopamine transporter (DAT(-/-)) knockout mice. Unlike classical and atypical antipsychotics, SSR103800 did not produce catalepsy. The findings suggest that SSR103800 has antipsychotic-like effects, which differ from those observed with compounds primarily targeting the dopaminergic system, and has a reduced side-effect potential.


MESH:C502407


NCBIGene:12292

The study identifies a new mutation, V876E, in the CACNA1S gene, which is associated with Hypokalemic periodic paralysis (HypoPP), an autosomal dominant disorder characterized by periodic muscle weakness and decreased serum potassium levels. This mutation was found in a four-generation South American family with HypoPP, but not in normal family members or 160 control people. The mutation is associated with severe outcomes, including early onset, complete penetrance, and a severe prognosis, including death.


UMLS:C3506479


PR:000017283

The study found that overexpression of the vitamin D receptor (VDR) in colorectal cancer is independently associated with PIK3CA and KRAS mutations. This suggests potential interactions between the VDR, RAS-MAPK and PI3K-AKT pathways, and the possibility that KRAS or PIK3CA mutation could influence therapy or chemoprevention targeting VDR. However, VDR expression was not significantly related to patient survival, prognosis, or clinical outcome.


UMLS:C0919765


NCBIGene:7421


NCBIGene:99296

The study investigates the role of HRH3 in the growth of cholangiocarcinoma. It was found that HRH3 expression was present in all cells. The use of RAMH inhibited the growth of cholangiocarcinoma cells by increasing IP(3) levels and PKCalpha phosphorylation and decreasing ERK1/2 phosphorylation. RAMH also induced a shift in the localization of PKCalpha expression from the cytosolic domain into the membrane region of Mz-ChA-1 cells. In vivo, RAMH decreased tumor growth and expression of VEGF and its receptors, while increasing PKCalpha expression. The findings suggest that modulation of PKCalpha by histamine receptors may be important in regulating cholangiocarcinoma growth.


MESH:C081796


MESH:D016578

The study investigates the role of smoking crack cocaine in the incidence of HIV infection among people who use injection drugs. The study included 1048 eligible injection drug users, of which 137 acquired HIV infection during follow-up. The study found that the proportion of participants who reported daily smoking of crack cocaine increased from 11.6% in period 1 to 39.7% in period 3. The risk of HIV seroconversion among participants who were daily smokers of crack cocaine also increased over time. The study concludes that smoking of crack cocaine is an independent risk factor for HIV seroconversion among people who use injection drugs.


UMLS:C0556025


MESH:D016578


NCBIGene:20371

The study investigates the association between single-nucleotide polymorphisms (SNPs) in the FOXP3 gene and susceptibility to psoriasis in a Han Chinese population. The study found that certain genotypes of the FOXP3 gene were associated with an increased risk of psoriasis. Specifically, the FOXP3 -3279 AC genotype and the combined AC+AA genotype, as well as the FOXP3 IVS9+459 GG genotype, were associated with increased risk. However, no increased risk was associated with the FOXP3-6054 deletion/ATT or FOXP3-924 A/G genotype. The study suggests that FOXP3 polymorphisms contribute to the risk of psoriasis in this population.


UMLS:C1867475


UMLS:C5669780


UMLS:C3899163


UMLS:C3839651


UMLS:C0294721

The study investigates the association between the genetic polymorphism rs1052133, which leads to a change in the amino acid at codon 326 from Ser to Cys in the hOGG1 enzyme, and lung cancer susceptibility. The study found that the homozygous Cys/Cys genotype was significantly associated with lung cancer, particularly small-cell carcinoma and adenocarcinoma. A meta-analysis also suggested associations with squamous- and small-cell lung cancers.


CHEBI:32460


UMLS:C0294721


UMLS:C1564844

The study found that the chemotherapy agent 5-fluorouracil (5-FU) can cause cognitive deterioration and reduce cell proliferation in the brain, specifically in the hippocampal region. However, these negative effects can be reversed by co-administering the antidepressant Fluoxetine. The study was conducted on adult Lister hooded rats.


UMLS:C1564844


UMLS:C3650305


UMLS:C0723011

The study investigates the effects of vasopressor agents phenylephrine and ephedrine on frontal lobe oxygenation (S(c)O(2)) after anesthesia-induced hypotension. After anesthesia induction, 13 patients received phenylephrine and 12 received ephedrine to restore mean arterial pressure (MAP). While both drugs increased MAP, phenylephrine led to a 14% reduction in S(c)O(2) with no change in cardiac output (CO). Ephedrine, on the other hand, restored CO and preserved S(c)O(2). The findings suggest that using phenylephrine to correct anesthesia-induced hypotension negatively impacts S(c)O(2), while ephedrine maintains it, potentially due to an increase in CO.


PUBCHEM.COMPOUND:9294


UMLS:C0723011


PUBCHEM.COMPOUND:5530

The study found an increase in postoperative convulsive seizures in patients who underwent major cardiac surgical procedures and were treated with high-dose tranexamic acid (TXA). The seizures were not associated with new cerebral ischemic injury in most patients. The patients who experienced seizures were older, had undergone open chamber cardiac surgery, and were managed using cardiopulmonary bypass. The study suggests that high-dose TXA may be associated with clinical seizures in susceptible patients.


UMLS:C3151997


NCBIGene:114841037

The study investigates the association of the G-395A polymorphism in the promoter region of the Klotho gene with Essential Hypertension (EH) in the Chinese Han population. The study found that the G-395A polymorphism is significantly associated with EH, especially in subjects over 60 years old, females, and non-smokers. The -395A allele carriers have a lower risk of EH compared to the control group. The G-395A polymorphism may be a potential regulatory site as it affects the transcription level of the Klotho gene.


CHEBI:39462

The study found that the chemokine receptor CCR2 and its ligand CCL2 are increased in the hippocampus following status epilepticus (SE) induced by pilocarpine injection. This increase was observed in neurons and astrocytes, with changes in the cell types expressing CCR2. These changes might be involved in detrimental neuroplasticity and neuroinflammatory changes that occur following seizures.


MONDO:0002125


NCBIGene:12772


UMLS:C0687700

The study investigates the effect of metallothionein (MT) induction on carmustine (BCNU)-induced hippocampal cognitive dysfunction in rats. The results show that BCNU administration leads to learning and short-term memory deterioration, decreased hippocampal glutathione reductase (GR) activity, and reduced glutathione (GSH) content. It also increases serum tumor necrosis factor-alpha (TNFalpha), hippocampal MT, and malondialdehyde (MDA) contents, as well as caspase-3 activity. However, pretreatment with ZnSO(4) counteracts these effects, reducing the levels of MDA and TNFalpha, the activity of caspase-3, and preserving cognition.


PUBCHEM.COMPOUND:24424

Carmustine (BCNU)-induced hippocampal cognitive dysfunction


UMLS:C0687700

Hippocampal glutathione reductase (GR) activity


UMLS:C0687700

Serum tumor necrosis factor-alpha (TNFalpha)


PUBCHEM.COMPOUND:24424


PUBCHEM.COMPOUND:44279834

The study examined the genetic association of the promoter insertion/deletion (indel) in the IRF5 gene with systemic lupus erythematosus (SLE) in different populations. The research involved genotyping four IRF5 polymorphisms in 1488 SLE patients and 1466 controls. The promoter indel and rs2070197 had independent genetic effects, which accounted for the association of rs2004640 and rs10954213. The study found that rs10954213 is the main single-nucleotide polymorphism responsible for altered IRF5 expression in peripheral blood mononuclear cells (PBMC).


UMLS:C3494762

The study investigates the association of adipocyte genes with Acylation Stimulating protein (ASP) expression in morbidly obese subjects. The subjects were divided into two groups based on fasting plasma analysis: Low ASP and Triglyceride (LAT) and High ASP and Triglyceride (HAT). The study found that the HAT group had increased ASP related genes and a compensatory ASP pathway associated with increased triglyceride storage. The HAT group also showed increased lipid-related genes for storage, lipolysis, fatty acid binding proteins, and adipocyte differentiation markers, while oxidation related genes were decreased. The HAT group also had increased anti-inflammatory genes and proinflammatory genes. The findings suggest a compensatory response in the HAT group associated with the increased plasma ASP and triglyceride.


UMLS:C3494762


UMLS:C4727587

The study provides a comprehensive genomic sequence of the U87MG cell line, a commonly studied grade IV glioma cell line. Using a novel 50-base mate paired strategy, the researchers identified 35 interchromosomal translocation events, 1,315 structural variations, 191,743 small insertions and deletions (indels), and 2,384,470 single nucleotide variations (SNVs). The known homozygous mutation in PTEN was identified, and genes involved in cell adhesion were overrepresented in the mutated gene list. The sequence analysis of U87MG provides an unparalleled level of mutational resolution compared to any cell line to date.


UMLS:C1319577

Interchromosomal translocation events, Structural variations, Small insertions and deletions (indels), Single nucleotide variations (SNVs)


NCBIGene:5728


UMLS:C0017337


UMLS:C4727587


UMLS:C1170059

Necrotizing eosinophilic (hypersensitivity) myocarditis

The paper discusses a rare but severe adverse reaction to carbamazepine, a drug used to treat certain types of seizures and nerve pain. The reaction, necrotizing eosinophilic (hypersensitivity) myocarditis, is often fatal and was not suspected in the case reported until after death. The cause of death was cardiogenic shock due to damage to the myocardium by eosinophils and lymphocytes.


UMLS:C1880522


UMLS:C3666000

Necrotizing eosinophilic (hypersensitivity) myocarditis


UMLS:C0030705

The study investigated a patient with mucopolysaccharidosis type VI who appeared to be homozygous for the mutation p.R315X on exon 5 of the arylsulfatase B (ARSB) gene. Further testing revealed a second mutation, a large deletion involving the entire exon 5 of the ARSB gene and parts of introns 4 and 5. This mutation, identified as c.899-1142del at the cDNA level and g.99367-102002del at the genomic DNA level, caused a frameshift starting at amino acid 300, resulting in a protein with 39% different amino acids from the normal enzyme. The study emphasizes the need for extensive DNA analysis in cases of apparent homozygosity to avoid errors in genetic counseling.


UMLS:C5445401


UMLS:C0017382


PR:000000010

The study investigates the roles of Chordin-like (Chl) and Chordin (Chd) proteins in zebrafish, Danio rerio. The researchers found that Chl and Chd have overlapping roles in the formation of the dorsoventral axis, acting as antagonists to Bone Morphogenetic Protein (BMP). The study also suggests that Chl may serve roles in zebrafish that are distributed between CHL1 and CHL2 in other species.


NCBIGene:823942


UMLS:C2722404

The study investigates the effect of risperidone-induced hyperprolactinemia on bone mineral density (BMD) in boys aged 7 to 17. The study found that hyperprolactinemia was present in 49% of the boys treated with risperidone. Serum testosterone concentration increased with pubertal status but was not affected by hyperprolactinemia. Bone mineral content and BMD increased with sexual maturity. After adjusting for various factors, serum prolactin was negatively associated with trabecular volumetric BMD. Treatment with selective serotonin reuptake inhibitors (SSRIs) was also associated with lower BMD. This is the first study to link risperidone-induced hyperprolactinemia and SSRI treatment to lower BMD in children and adolescents.


MONDO:0005804


UMLS:C1631057


UMLS:C2215654


UMLS:C5231034

The study identifies a new case of generalized glucocorticoid resistance syndrome in a 2-year-old female. This condition is characterized by partial insensitivity to glucocorticoids due to mutations in the glucocorticoid receptor (GR) gene. The patient had a heterozygotic mutation at nucleotide position 2141, which resulted in the substitution of arginine by glutamine at amino acid position 714 in the ligand-binding domain (LBD) of the GR alpha. This mutation impaired the receptor's transactivation activity and reduced its affinity to ligand. Dexamethasone treatment was effective in controlling the patient's symptoms.


NCBIGene:196

The research paper discusses the identification of single nucleotide polymorphisms (SNPs) in the aryl hydrocarbon receptor (AHR) gene from six different ethnic populations. The AHR gene is known to mediate the effects of certain dioxin-like chemicals. The study sequenced 108 additional human AHR genes and identified six exonic SNPs, two of which are novel. Four of these SNPs lead to amino acid changes in the AHR protein. The results indicate a limited presence of polymorphisms in the core ligand binding region of the human AHR, suggesting other regions like the transactivation domain may be more polymorphic.


NCBIGene:196


NCIT:C13425


UMLS:C0106158

The study investigates the role of TGF-beta isoforms and their receptors in keloid disease, a type of benign dermal tumor. The researchers used antisense oligonucleotides to target TGF-beta1 in keloid-derived fibroblasts. They found that the expression of TGF-beta1 and -beta2 was decreased in normal fibroblasts compared to keloid fibroblasts, while the expression of TGF-beta3 and TGF-betaRII was higher in normal fibroblasts. Abrogation of TGF-beta1 led to a significant decrease in TGF-beta1 and -beta2. The study suggests that there is a regulatory mechanism between TGF-beta1 and its receptors, and that abnormal response of keloid fibroblasts to TGF-beta might reflect a modification in this regulatory pathway.


UMLS:C0354604

The study investigates the relationship between the use of antithrombotic drugs, cerebral microbleeds (MB), and intracerebral hemorrhage (ICH). The findings suggest that MB are more frequent in ICH compared to ischemic stroke (IS)/transient ischemic attack (TIA) across all treatment groups. The excess of MB was found to be higher in users of antiplatelet and warfarin. The presence of MB at baseline in antithrombotic users was associated with a significantly increased risk of subsequent ICH. The study suggests that MB may increase the risk of warfarin-associated ICH.


UMLS:C4510536


UMLS:C1527323


PUBCHEM.COMPOUND:446220

The study found that cocaine administration in rats led to memory and learning impairments, which were associated with decreased nuclear factor kappa B (NFkappaB) activity and increased oxidative stress. The study also found that topiramate, a proposed therapy for cocaine addiction, prevented these alterations, suggesting its neuroprotective properties.


PUBCHEM.COMPOUND:446220


PUBCHEM.COMPOUND:5284627


UMLS:C0147559

The study investigates the protective effect of coenzyme Q10 on acute renal injury in mice, induced by cisplatin. The treatment with coenzyme Q10 significantly reduced the levels of blood urea nitrogen and serum creatinine, which were increased by cisplatin. It also compensated for deficits in antioxidant defense mechanisms, suppressed lipid peroxidation, decreased the elevations of tumor necrosis factor-alpha, nitric oxide and platinum ion concentration, and attenuated the reductions of selenium and zinc ions in renal tissue. Histopathological damage to renal tissue caused by cisplatin was also ameliorated by coenzyme Q10 treatment. The study concludes that coenzyme Q10 could be a potential therapeutic option to protect against acute cisplatin nephrotoxicity.


UMLS:C0147559

blood urea nitrogen and serum creatinine levels


UMLS:C0147559


NCBIGene:3075

Summary not provided or could not be parsed.


NCBIGene:3075


UMLS:C5679977


NCBIGene:18548

The study investigates the association of obesity risk SNPs (single nucleotide polymorphisms) in the PCSK1 gene with insulin sensitivity and proinsulin conversion. The PCSK1 gene encodes the enzyme prohormone convertase 1, which is involved in peptide maturation. The study found that the minor alleles of SNPs rs6232 and rs6235, adjusted for sex, age, BMI and insulin sensitivity, were associated with elevated proinsulin levels. However, these SNPs were not associated with BMI or other weight-related traits. The minor allele of SNP rs6232 was also associated with higher insulin sensitivity and lower glucose levels, independent of BMI and proinsulin conversion. SNP rs6235 was not associated with parameters of glucose metabolism.


UMLS:C0444949


CHEMBL.COMPOUND:CHEMBL287386


NCBIGene:22094

The study reports two novel mutations in the TSH-beta subunit gene that cause congenital central hypothyroidism and anemia resistant to conventional treatment. The first mutation is a splice-junction mutation that causes exon 2 to be skipped, resulting in a non-functional protein. The second mutation is a missense mutation that changes a conserved cysteine residue, predicted to damage the protein's structure. These mutations are not detected in standard neonatal TSH screening, suggesting a need for more comprehensive diagnostic approaches.


CHEBI:61292


UMLS:C3830137


UMLS:C4302200


NCBIGene:238871

The study investigates the influence of the phosphodiesterase 4D (PDE4D) gene on subclinical atherosclerosis. The research was conducted on 1013 stroke-free subjects, and the genotype distribution was compared among high-risk, low-risk, and reference groups. The study found that the rare homozygote of rs702553 at the PDE4D gene led to an increased risk for a plaque index greater than or equal to 4. However, this genetic effect was only evident in men and not in women. The TT genotype was over-represented in male subjects with a plaque index greater than or equal to 4. In women, neither intima-media thickness (IMT) nor plaque index was associated with rs702553. The study concludes that PDE4D has a sex-differential effect on IMT, plaque index, and stroke, influencing various aspects of atherogenesis.


PUBCHEM.COMPOUND:44307065


UMLS:C4554543


NCBIGene:238871


PUBCHEM.COMPOUND:3559

The study investigates the role of glutamatergic neurotransmission mediated by NMDA receptors in the inferior colliculus (IC) on haloperidol-induced catalepsy in rats. The results show that microinjections of glutamate NMDA receptor antagonists, MK-801 and AP7, into the IC prior to systemic injections of haloperidol significantly reduced the catalepsy. Conversely, microinjection of the NMDA receptor agonist N-methyl-d-aspartate (NMDA) increased the catalepsy. This suggests that glutamate-mediated mechanisms in the IC influence haloperidol-induced catalepsy and participate in the regulation of motor activity.


UMLS:C0813872


UMLS:C4285595


GO:0035235


UMLS:C0332310

The study performed a molecular analysis of the androgen receptor (AR) and SRD5A2 genes in 29 patients with 46,XY DSD. Six patients from four unrelated families were found to have mutations in the SRD5A2 gene. Five patients had a p.R246Q missense mutation, four of whom were homozygous and one was compound heterozygous. Another patient had a heterozygous p.G196S missense mutation. No AR gene mutation was detected. The study suggests that the p.R246Q mutation is common among patients with an SRD5A2 gene defect in the Northern states of India. A novel deletion in exon 1 of the SRD5A2 gene was also identified in a patient with severe hypospadias.


UMLS:C4687554


UMLS:C0030705