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671 articles
October 202624
Vaginal Angiomyofibroblastoma in a Patient With Warkany Syndrome (Mosaic Trisomy 8): A Case Report.
A 27-year-old nulliparous woman with constitutionally confirmed mosaic trisomy 8 presented with a protruding vaginal mass. MRI showed a well-defined, homogeneously enhancing mid-vaginal lesion and incidentally…
Disruption of the N-terminal domain in a STAT3 hyper-IgE syndrome variant causes disease by sequestering STAT3 in the cytoplasm.
A patient with a STAT3 R31Q variant presented with disseminated invasive aspergillosis involving the brain and lung, bronchiectasis, and elevated serum IgE, without nonimmune manifestations of hyper-IgE syndrome.
Cutaneous features of SDR9C7 variants in eight individuals with autosomal recessive nonsyndromic epidermal differentiation disorders.
Eight individuals with SDR9C7 variants and nonsyndromic epidermal differentiation disorders had scaling and erythema, commonly with fine scale, hyperlinear palms, and greater involvement of the extremities, particularly…
A novel PGAP1 splice-site variant expanding the clinical and molecular spectrum of GPI-anchor disorders.
A patient with neurodevelopmental impairment was found to carry a novel homozygous PGAP1 splice-site variant, NM_024989.4.1173 + 1G > A.
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).
Copy number variants across the developmental epilepsy-developmental and epileptic encephalopathy spectrum: an Indonesian case series.
A retrospective series from a tertiary hospital in Yogyakarta described four Indonesian children with developmental epilepsy or developmental and epileptic encephalopathy and pathogenic copy number variants.
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).
Neonatal nemaline myopathy associated with NEB variants and a favorable 3-year outcome: A case report.
A female neonate developed cyanosis, bradycardia, respiratory distress, and hypotonia shortly after birth, with recurrent respiratory deterioration and bulbar feeding and swallowing difficulties.
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.
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.
Anaesthetic Management of a Child with Chromosome 7q32.1 Microdeletion Undergoing Ligation of Patent Processus Vaginalis.
A six-year-old boy with chromosome 7q32.1 microdeletion, autism spectrum disorder, attention deficit hyperactivity disorder, hypotonia and asthma underwent elective ligation of a patent processus vaginalis under general…
Beyond Hereditary Haemorrhagic Telangiectasia (HHT): Capillary Malformation-Arteriovenous Syndrome (CM-AVM).
An asymptomatic woman in her forties was referred for suspected hereditary haemorrhagic telangiectasia (HHT) after mucocutaneous telangiectasia was noted on her face, lips and hands.
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…
Natural History and Therapeutic Response in Ophthalmic Plasminogen Deficiency: Two Cases and Call for Registry-Based Data.
The report describes two patients with type 1 plasminogen deficiency and ligneous conjunctivitis. A 65-year-old woman with untreated disease had recurrent conjunctivitis, ultimately requiring enucleation, and developed…
Molecular characterization of mucolipidosis: A case-series from Iran.
Six unrelated Iranian patients with mucolipidosis underwent molecular characterization. Pathogenic homozygous variants were identified in GNPTAB, GNPTG, and MCOLN1, with all variants classified as pathogenic under ACMG…
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.
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…
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.
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.
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