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671 articles
October 202624
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…
Anterior ST-Segment Elevation Myocardial Infarction Followed by Acute Popliteal Artery Occlusion in a 25-Year-Old Tobacco Smoker with Cannabis Use.
A 25-year-old man who smoked tobacco and occasionally used cannabis presented with an anterior ST-elevation myocardial infarction and underwent primary PCI of the left anterior descending artery.
I saw the "molar tooth" sign: A bite into Joubert syndrome.
The report describes recognition of the molar tooth sign on MRI in a patient with Joubert syndrome, a congenital hindbrain malformation.
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.
Compound-Heterozygous PLVAP Missense Variants Associated With Attenuated Protein-Losing Enteropathy (DIAR10).
A three-year-old girl presented with attenuated protein-losing enteropathy and was found to carry compound-heterozygous missense variants in PLVAP.
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…
CHAPLE-Like Enteropathy and Renal Microangiopathy in an Adult Patient With CD46 Deficiency.
A 23-year-old woman with childhood-onset enteropathy and hypogammaglobulinemia had been treated with immunoglobulin replacement for presumed common variable immunodeficiency.
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.
Multisystem imaging findings as diagnostic red herrings in Wilson's disease.
A previously healthy man in his 20s presented with fever, cough, jaundice, and a right-sided pleural effusion. Initial tests revealed significant hepatic dysfunction, and imaging showed cirrhotic liver morphology…
Coarctation of the aorta as the presenting cardiovascular manifestation of Williams syndrome in an infant.
A male infant presented for pre-operative evaluation of a left inguinal hernia, during which discrete juxtaductal coarctation of the aorta was incidentally found.
PHOENIX: a study protocol for a pilot randomised controlled trial of pre-emptive pharmacogenomic panel testing in acute care settings with health economic evaluations.
The PHOENIX trial is a pilot randomized controlled trial assessing the impact of pre-emptive pharmacogenomic panel testing on adverse drug reactions (ADRs) and treatment failures in acute care settings.
Familial hypomagnesemia with secondary hypocalcemia: a novel TRPM6 mutation associated with treatment-resistant migraine in a North African family.
An 18-year-old woman from a consanguineous Moroccan family presented with lifelong hypomagnesemia and a severe migraine attack accompanied by paresthesias and muscle cramps.
A nationwide prospective randomized trial for diagnosing developmental disorders demonstrates genome sequencing outperforms standard of care.
This nationwide prospective randomized trial evaluated the diagnostic efficacy of genome sequencing (GS) compared to standard of care (SoC) in 567 individuals with unexplained developmental disorders (DD).
The role of PRKRA mutation in antipsychotic-induced extrapyramidal symptoms: a case report and implications for precision psychiatry.
A 43-year-old woman with atypical psychosis developed severe extrapyramidal symptoms after treatment with olanzapine, an antipsychotic described as having a lower propensity for these effects.
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