Trending archive
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501 articles
October 202624
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…
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…
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.
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.
Acromegaly as the Initial Presentation of Multiple Endocrine Neoplasia Type 1: A Case Report.
A 34-year-old woman presented with acromegalic features and hypercalcemia. Testing and MRI showed a recurrent growth hormone–secreting pituitary macroadenoma, while neck imaging identified a parathyroid adenoma.
Intrafamilial phenotypic variation in four Palestinian siblings with CFAP418-related ciliopathy: a familial case series.
Four Palestinian siblings from a consanguineous family were homozygous for the CFAP418 splice-donor variant NM_177965.3:c.155 + 1G > A.
Association of virulence genes with biofilm formation in clinical Enterococcus faecalis isolates: a systematic review and meta-analysis.
This systematic review and random-effects meta-analysis assessed associations between virulence gene carriage and microplate-measured biofilm formation in human clinical Enterococcus faecalis isolates.
Genetic Variants in Intracranial Atherosclerotic Disease: A Systematic Review and Targeted Meta-Analysis Highlighting the RNF213 rs112735431.
This systematic review and targeted meta-analysis examined genetic variants associated with intracranial atherosclerotic disease (ICAD) in human studies identified through September 2025.
Detection of MOG-IgG and MOG-IgA in Maternal Breast Milk and Infant Blood in MOGAD: A Case Report.
A mother with MOG antibody-associated disease had persistently elevated plasma MOG-IgG, with a transient decrease in early pregnancy.
Two siblings presented with spastic paraplegia and psychomotor retardation with or without seizures with HACE1 variants: A case report and literature review.
Two siblings from a nonconsanguineous Chinese family had infantile-onset hypotonia, global developmental and motor delay, gait impairment, language delay, and dysarthria; the older sister also had recurrent febrile…
Contrasting clinical trajectories in two ALS patients with rare FUS variants: implications for variant interpretation, penetrance, and trial readiness.
The report describes two patients with amyotrophic lateral sclerosis (ALS) carrying rare FUS variants. Their clinical courses differed, despite the association of FUS-related ALS with relatively aggressive disease.
A Lynch syndrome patient with multiple cancers who was found to have a novel pathogenic variant generating aberrant splicing of MLH1.
A Japanese woman with colorectal, gastric, and endometrial cancers was found to carry the germline MLH1 variant c.545G>T (p.Arg182Met), initially classified by a clinical testing laboratory as a variant of uncertain…
Genotype-informed docosahexaenoic acid dosing based on the FADS Indel to reduce preterm and prolonged gestation: A secondary analysis of the ADORE randomized trial.
This post hoc secondary analysis of the multicentre ADORE randomised trial examined whether FADS Indel genotype modified the association between DHA dose and gestational outcomes.
Case Report: Atypical femoral fractures in adult-onset hypophosphatasia treated with low-dose asfotase alfa and adjunctive teriparatide therapy.
A 52-year-old woman presented with progressive pain and bilateral atypical femoral fractures. Low alkaline phosphatase, markedly elevated pyridoxal 5'-phosphate, prior metatarsal fracture, premature tooth loss, and…
Complex presentation of neonatal arthrogryposis multiplex congenita: insights into a multifactorial disorder.
A neonate with amyoplasia-type arthrogryposis multiplex congenita had bilateral talipes equinovarus, elbow contractures, ulnar wrist deviation and clinodactyly, with mild hip dysplasia and a small atrial septal defect.
Early-onset VEXAS syndrome mimicking orbital cellulitis and successfully treated with allogeneic hematopoietic stem cell transplantation.
A 25-year-old male presented with recurrent fever, weight loss, arthralgia, and symptoms resembling orbital cellulitis. Imaging revealed orbital soft tissue inflammation, while laboratory tests showed macrocytic anemia…
Genome-wide meta-analysis dissects the genetic basis and health implications of circulating taurine.
This genome-wide meta-analysis examined the genetic basis of circulating taurine levels in 36,490 European individuals. The study identified six common and two rare genetic loci associated with taurine levels and…
Uveitis despite adalimumab therapy in Blau syndrome.
A middle childhood boy initially diagnosed with oligoarticular juvenile idiopathic arthritis presented with persistent arthritis, recurrent fever, and skin lesions.
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