Trending archive
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671 articles
October 202624
Pacak-Zhuang syndrome with EPAS1 p.Pro531Leu somatic variant: one case report and literature review.
A 4-year-old girl presented with recurrent hypertension, polycythemia and renal hilar masses. Imaging, biochemical testing and genetic analysis of paraffin-embedded tissue confirmed Pacak-Zhuang syndrome with a somatic…
High-Resolution Ultrasound in the Evaluation of Median and Superficial Radial Nerve Involvement in Neurofibromatosis Type 1.
A 16-year-old girl with neurofibromatosis type 1 presented with hand pain and paresthesia. High-resolution ultrasound showed a hypervascular superficial neurofibroma, marked epineural thickening of the median nerve…
Delayed diagnosis of cerebrotendinous xanthomatosis with progressive neurological involvement: a case report.
A 34-year-old man with genetically confirmed cerebrotendinous xanthomatosis presented with progressive gait instability, dysarthria, dysphagia, and cognitive impairment.
An Integrated Approach to MSI-High Colorectal Cancer Therapy in a Young Patient: A Clinical Case.
A 16-year-old male underwent appendectomy for presumed appendicitis, but persistent postoperative bowel obstruction led to CT detection of a descending-colon tumor and emergency Hartmann’s procedure.
Gene-based association analysis of depression risk among European ancestry Parkinson's disease patients.
This gene-based association analysis and meta-analysis examined common and low-frequency genetic variants related to depression among European-ancestry patients with Parkinson’s disease (PD) in three population-based…
Co-existence of CLCN1 and DNM2 variants in a phenotype overlapping myotonia and myopathy.
An Iranian family was evaluated for a phenotype combining severe myotonia and myopathic features. The index patient had clinical and electrical myotonia, with myopathic changes on electromyography.
Genetic correlates of corticobasal degeneration: a systematic review and meta-analysis.
This PRISMA-guided systematic review and meta-analysis synthesized genetic association studies of corticobasal degeneration (CBD), including 22 studies published between 2001 and 2025.
Local ancestry-aware genome-wide meta-analysis uncovers novel genetic loci for sickle cell disease nephropathy.
This local ancestry-aware genome-wide association meta-analysis examined estimated glomerular filtration rate in participants from two well-characterized adult sickle cell disease cohorts, seeking genetic loci…
Approach to the patient with APS-1/APECED.
This article presents five cases of autoimmune polyendocrine syndrome type 1 (APS-1/APECED), a disorder caused by impaired immune tolerance and typically associated with biallelic AIRE variants.
The extra X chromosome and autoimmune susceptibility in Klinefelter syndrome.
This systematic review and meta-analysis assessed autoimmune susceptibility in people with Klinefelter syndrome (47,XXY), using studies of autoimmune disease and serological markers.
Dysregulation of glycogen metabolism in cardiomyopathy caused by glycogenin-1 (GYG1) missense variants.
The report describes a new case of glycogen storage disease type 15 (GSD15), alongside analysis of heart explants from two previously reported patients.
A novel de novo variant of CDKL5 in an Iranian child with infantile-onset refractory epilepsy.
An Iranian girl presented with developmental delay, hypotonia, and refractory seizures. Whole-exome sequencing identified a de novo CDKL5 frameshift variant, c.1037_1038delTCinsCAGATCTAA (p.Ile346Thrfs*14), which Sanger…
Spontaneous gene mutation encounters a paternal genetic variant: Nemaline myopathy: a case report and literature review.
A 21-year-old man had progressive weakness beginning in the distal lower limbs at age 3, later affecting proximal and masticatory muscles.
Safety and efficacy of delpacibart zotadirsen in Duchenne muscular dystrophy mutations amenable to exon 44 skipping in the USA (EXPLORE44): a randomised, placebo-controlled, double-blind, phase 1/2 trial.
EXPLORE44 was a two-part, randomised, double-blind, placebo-controlled phase 1/2 trial at ten US sites, studying delpacibart zotadirsen (del-zota) in healthy adult men and in ambulatory and non-ambulatory males aged…
FDA Approval Summary: Erdafitinib for FGFR3-Altered Locally Advanced or Metastatic Urothelial Carcinoma.
This FDA approval summary describes evidence supporting erdafitinib for patients with FGFR3-altered locally advanced or metastatic urothelial carcinoma that progressed during or after at least one systemic therapy.
Association of immune checkpoint-related polymorphisms in PD-1, PD-L1, and CTLA-4 genes with susceptibility to genitourinary cancer: a meta-analysis.
This meta-analysis pooled evidence from 16 case-control studies examining six single-nucleotide polymorphisms in PD-1, PD-L1, and CTLA-4 genes and susceptibility to genitourinary cancers, including urothelial, renal…
Molecular Genetic Analysis and Prenatal Diagnosis of a Family With MECP2 Duplication Syndrome.
A family was evaluated after a fetus at 15 weeks’ gestation and his symptomatic older brother were found to have duplications involving Xq28.
Severe growth retardation in Dent disease: a case report of a novel OCRL variant.
A 12-year-old boy with marked short stature and poor weight gain had low-molecular-weight proteinuria, haematuria, hypercalciuria and bilateral nephrocalcinosis, with normal renal function and no relevant family…
Aberrant splicing caused by a homozygous AK2 c.498 + 1G > A variant in a patient with reticular dysgenesis and concurrent B-cell acute lymphoblastic leukemia.
A boy with reticular dysgenesis (RD), a severe immunodeficiency associated with biallelic AK2 loss of function, was also diagnosed with B-cell acute lymphoblastic leukemia (B-ALL).
Application of a concise video to improve patient understanding of tumor genomic testing in community and academic practice settings.
This multicenter clinical trial evaluated a 3–4 minute educational video for patients undergoing standard-of-care tumor genomic testing (TGT), across cancer types and academic and community settings.
Epigenetic insights into anti-tuberculosis drug-induced liver injury: A systematic review of DNA methylation as a potential biomarker.
This systematic review assessed whether DNA methylation patterns are associated with susceptibility to anti-tuberculosis drug-induced liver injury (ATDILI).
Systematic review of the impact of germline mutations from unrelated bone marrow donors on post-allogeneic transplantation.
This systematic review examined whether germline mutations in unrelated bone marrow donors are associated with outcomes after allogeneic hematopoietic stem cell transplantation.
Early-onset autosomal dominant distal renal tubular acidosis caused by a de novo SLC4A1 R589C variant with growth failure and rickets.
A Japanese boy had marked growth failure from 6 months of age and was diagnosed with autosomal dominant distal renal tubular acidosis at 27 months.
A case of renal hypouricemia type 1 associated with compound heterozygous URAT1/SLC22A12 variants A209V and F379L: clinical evidence for their pathogenic significance.
A 69-year-old woman was evaluated for renal dysfunction and hypouricemia. Testing showed serum uric acid of 0.7 mg/dL and a fractional urate clearance (Cua/Ccr) of 60.5%, alongside CKD stage G3b and a renal stone.
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