Trending archive
Every article that has appeared in Trending stays here. Search by title, journal, author or PMID, and narrow by date.
379 articles
October 202624
Clinical manifestations of Armfield syndrome in females with heterozygous FAM50A variants and skewed X-chromosome inactivation.
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).
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.
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.
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).
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.
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.
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.
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…
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.
Child Neurology: Neonatal Management of Tyrosine Hydroxylase Deficiency: How Early Is Early Enough?
Two preterm neonates from unrelated families with a known family history of tyrosine hydroxylase deficiency were diagnosed early. Both began levodopa/carbidopa treatment during the neonatal period.
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.
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…
High-Resolution Ultrasound in the Evaluation of Median and Superficial Radial Nerve Involvement in Neurofibromatosis Type 1.
A 16-year-old girl with neurofibromatosis type 1 presented with hand pain and paresthesia. High-resolution ultrasound showed a hypervascular superficial neurofibroma, marked epineural thickening of the median nerve…
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.
An Integrated Approach to MSI-High Colorectal Cancer Therapy in a Young Patient: A Clinical Case.
A 16-year-old male underwent appendectomy for presumed appendicitis, but persistent postoperative bowel obstruction led to CT detection of a descending-colon tumor and emergency Hartmann’s procedure.
Co-existence of CLCN1 and DNM2 variants in a phenotype overlapping myotonia and myopathy.
An Iranian family was evaluated for a phenotype combining severe myotonia and myopathic features. The index patient had clinical and electrical myotonia, with myopathic changes on electromyography.
Approach to the patient with APS-1/APECED.
This article presents five cases of autoimmune polyendocrine syndrome type 1 (APS-1/APECED), a disorder caused by impaired immune tolerance and typically associated with biallelic AIRE variants.
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.
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…
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.
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
Prefer listening? Personalized audio digests are available with Pro.