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512 articles
June 202624
Positron Emission Tomography (PET) in Phenylketonuria: A Systematic Review of Brain Metabolism Beyond Phenylalanine.
This systematic review assessed PET studies of brain metabolism and neurotransmitter-related processes in people with phenylketonuria or hyperphenylalaninemia.
Biallelic TMEM126B Variants as a Novel Cause of Kidney Failure-Implications for Mitochondrial Genetic Testing in Nephrology: A Response Letter.
A 47-year-old male presented with childhood exercise intolerance, suspected hypertrophic cardiomyopathy, and progressive kidney failure. Initial genetic testing for inherited kidney diseases was inconclusive.
A descriptive case series of hepatotoxicity associated with CFTR modulators and possible relevance of pharmacogenetic polymorphisms in cystic fibrosis patients.
This case series reports six instances of hepatotoxicity in cystic fibrosis patients undergoing treatment with CFTR modulators. The RECAM score was utilized to assess the severity of liver damage.
Multi-ancestry genome-wide association meta-analysis of hepatocellular carcinoma identifies 15 risk loci including MAP3K9, DHRS1, MTTP, and 8q24.21.
This multi-ancestry genome-wide association meta-analysis examined germline susceptibility to all-cause hepatocellular carcinoma (HCC) across 15 cohorts, including 17,697 affected individuals and 2,715,683 controls.
STR typing from punched FFPE tissues: resolving suspected contamination and fetal-maternal mixture in two cases.
Two casework applications used targeted punches from formalin-fixed, paraffin-embedded tissue followed by STR profiling. In one, a focus of high-grade urothelial carcinoma in a prostate surgical specimen prompted…
Neonatal diabetes due to a truncating RFX6 mutation in an extremely low birth weight preterm infant with Mitchell-Riley syndrome.
A preterm male infant, born at 31 weeks with a birth weight of 880 g, presented with duodenal atresia and severe hyperglycemia starting on postnatal day 4.
Germline variants and impact on lung cancer outcomes following chemotherapy: A systematic review.
This systematic review examined the impact of germline genetic variants on chemotherapy outcomes in lung cancer patients of European ancestry.
Convergent imaging and genetic signatures of gray matter atrophy in Parkinson's disease.
This meta-analysis examined gray matter volume (GMV) abnormalities in Parkinson's disease (PD) by integrating neuroimaging data from 3,212 PD patients and 2,056 controls.
Three cases of hereditary hypomagnesemia with secondary hypocalcemia caused by novel TRPM6 gene mutations and a literature review.
Three Chinese children presented with afebrile convulsions, with one also experiencing gross hematuria. Genetic testing revealed four novel mutations in the TRPM6 gene.
Clustered monoallelic mosaicism in twins suggests previously unrecognized path of mutagenesis.
We report monozygotic twins with HNRNPU-related neurodevelopmental disorder who harbor two closely spaced mosaic single-nucleotide deletions on the same allele (c.1463del [p.Pro488Glnfs∗13] and c.1466del…
Severe ADEM-Like Neuroinflammatory Disease and Cerebrovascular Fragility With Recurrent Pseudoaneurysms and Moyamoya in a Familial Germline CBL Mutation: Expanding the Clinical Phenotype.
Two sisters with the same paternally inherited germline CBL variant had markedly different presentations. The older, previously healthy 4-year-old developed rapidly progressive ADEM-like neuroinflammation after a…
Identification and functional characterization of a novel mutation in the NEUROD1 gene in a Chinese family with maturity-onset diabetes of the young.
Few families with maturity-onset diabetes of the young (MODY) caused by neurogenic differentiation factor 1 (NEUROD1) mutations have been identified.
Maturity onset diabetes of the young in pregnancy: management, treatment and neonatal outcomes-a systematic review.
This systematic review examined pregnancy management and neonatal outcomes across subtypes of maturity-onset diabetes of the young (MODY), using clinical studies identified through Cochrane, EMBASE and PubMed.
Cousin Syndrome Due to TBX15 Gene Variants: Three Novel Cases and Review of the Literature.
This report details three novel cases of Cousin syndrome from two unrelated families, characterized by short stature, pelvi-scapular dysplasia, and craniofacial dysmorphism due to homozygous variants in the TBX15 gene.
An atypical RUNX1::ETV6::RUNX1 fusion in a pediatric patient with precursor B-cell acute lymphoblastic leukemia.
A 2-year-old male presented with precursor B-cell acute lymphoblastic leukemia (B-ALL) and was found to have an atypical RUNX1::ETV6::RUNX1 fusion.
Metachronous multiple insulinomas in oculo-facio-cardio-dental syndrome harboring a novel BCOR deletion: a case report with review of literature.
A female patient with genetically confirmed oculo-facio-cardio-dental (OFCD) syndrome, due to a novel BCOR deletion, presented with recurrent hypoglycemic episodes.
Characterization of a novel α-thalassemia deletion (Dongxing deletion; -- DX ) by CNV-seq in a Chinese female with Hb H disease: a case report.
A Chinese female with α-thalassemia presented with a phenotype of Hb H disease, which was inconsistent with her initial genotype of -α 4.2/-α 4.2.
Diverse Trial Designs, Populations, and Outcomes: A Systematic Literature Review of Trials for the Treatment of Hereditary Angioedema Attacks.
This systematic literature review evaluated 12 phase 2-3 randomized clinical trials for on-demand treatments of hereditary angioedema (HAE) attacks.
Report of a Homozygous Nonsense Variant in the WDR91 Gene Associated With Severe Communicating Hydrocephalus, Dandy Walker Malformation, and Cerebellar Hypoplasia.
A child presented with severe congenital communicating hydrocephalus, Dandy-Walker malformation, cerebellar hypoplasia, and facial dysmorphism.
Prognostic prediction models for psoriatic arthritis in psoriasis: A systematic review.
This systematic review evaluated the predictive performance, risk of bias and reporting quality of models estimating psoriatic arthritis risk in people with psoriasis.
Severe neonatal epilepsy linked to a novel homozygous SLC12A5 Arg508Cys variant with impaired chloride transport.
The potassium-chloride cotransporter 2 (KCC2) is a neuron-specific transporter essential for maintaining low intracellular chloride levels.
A case of maturity-onset diabetes of the young with a pathogenic HNF1A variant and a coexisting NEUROD1 variant.
A 21-year-old woman presented with early-onset diabetes and was diagnosed with maturity-onset diabetes of the young (MODY) due to a pathogenic HNF1A variant.
A Case of Familial Chylomicronemia Syndrome Caused by a Novel Homozygous GPIHBP1 Mutation Successfully Treated with the Selective PPARα Modulator Pemafibrate.
A 47-year-old woman with a history of familial chylomicronemia syndrome presented with severe epigastric pain due to acute pancreatitis from extreme hypertriglyceridemia.
Unexpected Voriconazole Overexposure in a CYP2C19 Rapid Metabolizer Due to Inflammation-Induced Phenoconversion: A Short Communication.
An adult patient on voriconazole exhibited significant drug overexposure despite being a CYP2C19 rapid metabolizer. Elevated voriconazole levels were noted alongside increased C-reactive protein, indicating a…
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