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671 articles
August 202624
Recurrent Sterile Polyserositis Reveals an Underrecognized Autoinflammatory Phenotype in MECP2 Duplication Syndrome.
In a retrospective multicenter review of four patients with MECP2 duplication syndrome, each developed recurrent pleural and/or pericardial effusions with systemic inflammation, including leukocytosis, elevated…
Mitochondrial abnormalities in Charcot-Marie-Tooth disease: insights from a family harbouring a novel GDAP1 variant.
Charcot-Marie-Tooth disease is an inherited peripheral neuropathy marked by progressive loss of motor and sensory function.
Hearing Aid Benefit in Auditory Neuropathy Due to Friedreich Ataxia: A Case Report.
A 44-year-old woman with genetically confirmed Friedreich ataxia underwent assessment for hearing loss. Audiometry and electrophysiological testing supported auditory neuropathy spectrum disorder, with otoacoustic…
Giardia duodenalis Infection and Pachymeningitis in a Patient With Agammaglobulinemia.
A 14-year-old patient with X-linked agammaglobulinemia presented with persistent fever, bloody diarrhea, and headache. Chronic giardiasis was identified, and brain MRI showed minimal diffuse dural thickening interpreted…
Exploring sex differences in endocannabinoid system biomarkers and their relationship with antidepressant treatment outcomes in major depressive disorder: a CAN-BIND 1 secondary analysis.
This randomized controlled trial investigated sex differences in endocannabinoid system (ECS) biomarkers and their relationship with antidepressant outcomes in 178 participants with major depressive disorder (MDD).
Genetic diversity of clinical Mycobacterium bovis BCG isolates from an immunocompromised patient with BCG infection.
The Bacillus Calmette-Guérin (BCG) vaccine is widely administered to prevent severe tuberculosis but can cause serious adverse events, including disseminated BCGosis, in immunocompromised individuals.
Clinicopathological characterisation of the first Australian family with the p.G51D SNCA mutation.
A family carrying the p.G51D SNCA mutation was identified through a community study of young-onset dementia. The proband developed parkinsonism at 38, followed by cognitive difficulties at 41 that progressed to dementia.
Morphology and Beyond - A Rare Case of Metastatic Succinate Dehydrogenase-Deficient Paraganglioma of the Vulva.
A 35-year-old woman with a history of pheochromocytoma presented with a vulvar mass. Histology showed nests and trabeculae of neuroendocrine-appearing cells in a Zellballen pattern, resembling other nested tumors.
Sustained benefit of adjuvant olaparib in women with germline BRCA1- and BRCA2-associated high-risk HER2-negative early breast cancer: updated results from the OlympiA phase III trial.
This updated analysis of the randomised, multicentre phase III OlympiA trial assessed one year of adjuvant olaparib versus placebo in patients with germline BRCA1/2 pathogenic variants and high-risk, HER2-negative early…
Rare Novel Genetic Variants of the OFD1 Gene Associated With a Familial Form and a Sporadic Case of Long Bone Atypical Fractures.
A family with 11 affected members had oral, facial and digital findings, together with adult-onset multiple long-bone insufficiency fractures that resembled atypical femur fractures on radiographs.
Pharmacokinetics of IL-23p19 Inhibitors: A Systematic Review Across Immune-Mediated Inflammatory Diseases.
This systematic review evaluated the pharmacokinetics of IL-23p19 inhibitors across various immune-mediated inflammatory diseases, including inflammatory bowel disease (IBD).
Genetics in Heterotaxy: A Case Series and Literature Review on DNAH9, PKD1L1, MMP21, and GDF1.
This case series involved seven children and fetuses with heterotaxy (HTX) from France and Vietnam, characterized by complex congenital heart defects and extracardiac abnormalities.
Beyond One Gene: a systematic review of layered evidence for antileishmanial resistance in Leishmania infantum.
This systematic review examined genetic evidence for antileishmanial resistance in Leishmania infantum, focusing on 29 studies.
Case report: compound heterozygous PTH1R variant(s) in a patient with inactivating PTH/PTHrP signalling disorder type 1 (iPPSD1).
A 9-year-old girl from the Indian subcontinent presented with primary failure of tooth eruption, dental anomalies, valgus deformity, PTH resistance, and subclinical hypothyroidism.
A novel SEMA6B splice-site variant (c.1680-2A>G) causes incompletely penetrant epilepsy via diverse aberrant transcripts.
While truncating variants in the SEMA6B gene are an established cause of Progressive Myoclonus Epilepsy-1(EPM11), the pathogenic mechanisms of non-last-exon splicing variants, particularly those underlying the frequent…
Identification and characterisation of a novel homozygous KDM5A variant associated with severe axial hypotonia, seizures, and cardiac anomalies.
A patient with severe neurodevelopmental delay had neuromotor delay, profound axial hypotonia with absent head control, mild upper-limb spasticity, a history of seizures, facial dysmorphism and congenital heart disease.
Chromosomal and genetic anomalies in fetuses with nuchal translucency between 3.0 and 3.4 mm: A systematic review and meta-analysis.
This systematic review and random-effects meta-analysis assessed chromosomal and genetic findings in fetuses with nuchal translucency (NT) of 3.0–3.4 mm and the potential added yield of invasive testing over cfDNA.
Report of Mucopolysaccharidosis Type VI Disorder in Pakistani Patients Presenting Two Novel ARSB Variants.
Two unrelated Pakistani patients were evaluated for mucopolysaccharidosis type VI (MPS-VI), an inherited disorder caused by deficient arylsulfatase B activity.
Autosomal dominant thrombocytopenia caused by a heterozygous CYCS variant: a new family and literature review.
Four affected members of a Chinese family across three generations had isolated mild-to-moderate thrombocytopenia, with platelet counts of 54 to 83 × 10⁹/L and normal platelet size and morphology.
Clinical features of four unrelated Japanese patients with autosomal recessive spinocerebellar ataxia type 32.
Four unrelated Japanese patients with autosomal recessive spinocerebellar ataxia type 32 (SCAR32) were identified among 411 ataxia cases negative for repeat expansion disorders.
Severe self-injury in a young girl with autism spectrum disorder and Helsmoortel-van der Aa syndrome responding to naltrexone.
A 10-year-old nonverbal girl with autism spectrum disorder and Helsmoortel-van der Aa syndrome had chronic, severe self-injurious behavior (SIB), including ocular rupture.
A multi-centre study of belatacept and sirolimus for islet transplantation.
This phase II, multi-centre clinical trial evaluated the efficacy of belatacept and sirolimus (bela/siro) in islet transplantation for type 1 diabetes.
Three Generations of X-Linked Hypophosphataemia: The Inter-generational Impact of Burosumab Across the Lifespan.
This case report describes three generations of a family affected by X-linked hypophosphataemia (XLH), each receiving burosumab therapy at different life stages.
Twelve-Year Follow-up of a Family With CKD Caused by an mtDNA Variant.
Five siblings with unaffected parents presented with hyperuricemia and chronic kidney disease; the proband died of end-stage kidney disease at age 16.
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