Trending Now

Important medical research and remarkable case reports worth knowing.

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

AllClinical ResearchCase Reports
FeaturedCase ReportMedical Genetics

Clinical manifestations of Armfield syndrome in females with heterozygous FAM50A variants and skewed X-chromosome inactivation.

Neurol SciOct 24, 2026Open access

A Spanish female patient presented with macrocephaly, global developmental delay, and leukoencephalopathy. Whole-exome sequencing identified a novel de novo heterozygous FAM50A variant, c.905 A > T (p.His302Leu).

Clinical pearl

Consider FAM50A-related MRXSA in females with developmental delay and compatible findings; RNA expression analysis can help assess the significance of a heterozygous variant and skewed X-chromosome inactivation.

Read case

Also worth knowing

Case ReportNeurology

Intermittent Maple Syrup Urine Disease Presenting With Chronic Demyelinating Polyneuropathy: A Genetically Confirmed DBT-Related Case.

A female patient with intermittent maple syrup urine disease (MSUD), genetically confirmed by compound heterozygous pathogenic DBT variants, had recurrent ataxic episodes from early childhood.

J Peripher Nerv SystOct 23, 2026Read case
Case ReportPathology (Anatomic & Clinical)

Primary intracranial sarcoma, DICER1-mutant: 5 cases highlighting variable clinical and molecular features.

The report describes five patients aged 6 to 40 years with primary intracranial sarcoma, DICER1-mutant, identified through methylation profiling and/or sequencing.

J Neuropathol Exp NeurolOct 20, 2026Read case
Case ReportMedical GeneticsOpen access

Clinically isolated hearing loss as a mild phenotype of PEX26-associated peroxisomal biogenesis disorder: A case report, literature review, and in silico analysis.

An Iranian man presented with bilateral sensorineural hearing loss (SNHL) and no other clinical manifestations at evaluation.

Mol Biol RepOct 21, 2026Read case
Case ReportPathology (Anatomic & Clinical)Open access

Co-occurrence of aortic dissection and polycystic kidney disease: a case report.

A 19-year-old Caucasian man with no known medical history collapsed during sexual intercourse and died. Post-mortem examination found hemopericardium and aortic dissection in association with polycystic kidney disease…

J Med Case RepOct 21, 2026Read case
Case ReportMedical GeneticsOpen access

Phenotypic variability in Arboleda-Tham syndrome: a report of a polish patient with a pathogenic KAT6A variant.

A 6-year-old boy born to healthy parents had global developmental delay, with milestones reached substantially later than expected. Diagnostic evaluation began at 18 months.

Mol Biol RepOct 20, 2026Read case
Case ReportOncology (Medical)Open access

Successful treatment with BrECADD in a patient with Dubin-Johnson syndrome and classic Hodgkin lymphoma: a case report.

A 26-year-old man with advanced-stage classic Hodgkin lymphoma also had Dubin–Johnson syndrome (DJS) associated with a homozygous ABCC2 variant, c.2291G>A (p.Gly764Asp).

Cancer Chemother PharmacolOct 23, 2026Read case
Case ReportMedical GeneticsOpen access

Delayed diagnosis of MEN1 after kidney transplantation: unrecognized pre-transplant features and implications for clinical practice.

A 68-year-old man with end-stage renal disease underwent living-donor kidney transplantation and had persistent hypercalcemia afterward.

CEN Case RepOct 23, 2026Read case
Case ReportNeurologyOpen access

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.

Neurol SciOct 19, 2026Read case
Case ReportMedical Genetics

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…

HematologyOct 19, 2026Read case
Case ReportNephrology

Unexpected finding of AA amyloidosis with novel genetic variants in the MEFV gene in patients undergoing kidney biopsy for proteinuria. A case series.

The report describes patients undergoing kidney biopsy for proteinuria in whom AA amyloidosis was identified, alongside MEFV gene variants.

J NephrolOct 22, 2026Read case
Case ReportDermatologyOpen access

Inherited epidermal differentiation disorders (EDD) in pediatric patients from a single Italian referral Center.

A retrospective review at an Italian referral center described three children with congenital, clinically heterogeneous inherited epidermal differentiation disorders.

Eur J PediatrOct 21, 2026Read case

Showing 12 of 21 publications that cleared our clinical screen in the last 14 days.

Looking for an earlier article?Everything that has appeared in Trending is in the archive.

Stay updated for free

Get the 3 most interesting publications in one specialty each week.

Weekly email. Unsubscribe anytime.

Want this personalized?

Stop searching the literature. Choose what you follow and xxcode will build your personalized medical digest.

  • Your specialties
  • Your filters and thresholds
  • Clinical Research + Case Reports, tuned separately
  • Automatic weekly delivery
  • Audio and text
Create my personalized digestSee plans

Prefer listening? Personalized audio digests are available with Pro.