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Important medical research and remarkable case reports worth knowing.

Selected from high-relevance medical literature published in the last 14 days.

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FeaturedClinical ResearchMedical Genetics

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.

Lancet NeurolOct 15, 2026

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…

Why it matters

DMD variants amenable to exon 44 skipping lack approved exon-skipping therapies, and this trial provides early human evidence that del-zota can engage its molecular target and increase dystrophin levels.

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Also worth knowing

Clinical ResearchMedical Genetics

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.

J Clin Endocrinol MetabOct 16, 2026Read summary
Clinical ResearchOncology (Medical)Open access

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.

PLoS OneOct 13, 2026Read summary
Clinical ResearchNephrology

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…

Blood AdvOct 16, 2026Read summary
Clinical ResearchNeurologyOpen access

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.

J NeurolOct 17, 2026Read summary
Clinical ResearchOncology (Medical)

Meta-analysis of 990 EBV genomes identifies EBER2 SNP7048 and its interaction with HLA-A*11:01 driving nasopharyngeal carcinoma risk.

This meta-analysis examined whether EBV genetic variation and host genetics are associated with nasopharyngeal carcinoma (NPC) across endemic populations in Singapore, Hong Kong, and China’s Guangdong and Guangxi…

Proc Natl Acad Sci U S AOct 20, 2026Read summary
Clinical ResearchNeurosurgeryOpen access

Molecular-genetic mechanisms of cerebral arteriovenous malformations: A systematic review of germline, somatic and experimental evidence.

This systematic review synthesised human genetic, molecular, and experimental evidence on cerebral arteriovenous malformation (AVM) formation, clinical course, and potential therapeutic targets.

Neurosurg RevOct 22, 2026Read summary
Clinical ResearchNeurologyOpen access

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…

Hum GenetOct 17, 2026Read summary
Clinical ResearchNeurosurgeryOpen access

Neurosurgical manifestations and management of mucopolysaccharidoses: A systematic review.

This PRISMA-guided systematic review synthesized contemporary reports of neurosurgical manifestations and management across mucopolysaccharidosis (MPS) subtypes.

Neurosurg RevOct 20, 2026Read summary
Clinical ResearchOncology (Medical)Open access

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.

Clin Cancer ResOct 15, 2026Read summary
Clinical ResearchUrologyOpen access

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…

Immunol ResOct 15, 2026Read summary
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