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http://dx.doi.org/10.1007/s00401-021-02363-7 | DOI Listing |
Turk J Obstet Gynecol
September 2025
Yüksek İhtisas University Faculty of Medicine, Department of Medical Genetics, Ankara, Türkiye.
Objective: Recurrent hydatidiform mole (RHM) is a rare disorder which is characterized by the presence of at least two molar pregnancies. The mutations in the and genes are responsible for the majority of recurrent molar pregnancies. This study aimed to demonstrate the diversity and frequency of and gene mutations in our Turkish cohort with recurrent molar pregnancies, and to establish genotype-phenotype correlation.
View Article and Find Full Text PDFFront Med (Lausanne)
August 2025
Department of Medical Genetics, The Second Xiangya Hospital, Central South University, Changsha, China.
Background: Rotor syndrome is a rare genetic disease inherited in an autosomal digenic recessive manner. It is caused by pathogenic mutations in both and genes, and characterized by predominantly conjugated hyperbilirubinemia.
Methods: Three Chinese patients clinically diagnosed with Rotor syndrome were included.
Ann Med Surg (Lond)
September 2025
College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
Introduction: Zeta-chain-associated protein kinase 70 () is a tyrosine kinase that plays a crucial role in T-cell activation via the T-cell receptor/CD3 complex and contributes to B-cell signaling. variants can cause a range of immunodeficiencies with variable clinical presentations, including infections and malignancies.
Case Presentation: A 4-year-old boy presented with chronic cough, dyspnea, recurrent chest infections, and failure to thrive.
Neurol Genet
October 2025
Department of Neurology, Graduate School of Medicine, The University of Tokyo, Japan.
Objectives: Typical MRI findings of vanishing white matter disease (VWM) include diffuse white matter lesions with cystic degeneration. However, mild cases may lack these typical features, posing diagnostic challenges.
Methods: We describe 2 of 3 individuals carrying the homozygous c.
Pediatr Rheumatol Online J
September 2025
UOC Rheumatology and Autoinflammatory Diseases, IRCCS Istituto Giannina Gaslini, Genova, Italy.
Background: Although typical findings of familial Mediterranean fever (FMF), such as brief fever episodes and abdominal or chest pain, have been largely described, little is known about the neurological manifestations of the disease in childhood.
Methods: A systematic search of the literature was conducted in PubMed/Medline, Cochrane, and Web of Science databases in accordance with the PRISMA guidelines, using MeSH terms related to FMF and neurological manifestations. Studies involving patients under 18 years of age diagnosed with FMF with neurological manifestations were included.