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Ocular Telangiectasia and Cerebellar Atrophy in Ataxia-Telangiectasia (Louis-Bar Syndrome).
Tremor Other Hyperkinet Mov (N Y)
January 2025
Department of Neurology, Medical University of Graz, Graz, Austria.
Background: Ataxia-telangiectasia (Louis-Bar syndrome) is a rare genetic disorder characterized by progressive ataxia, ocular telangiectasias, immunodeficiency and increased cancer risk due to impaired DNA repair.
Phenomenology Shown: Thorough clinical and subsequently radiological examination in a 19-year-old woman with a history of previously undiagnosed, progressive gait ataxia since early childhood, diffuse large B-cell lymphoma and severe combined immunodeficiency revealed the eponymous features of the disease, ocular telangiectasias and cerebellar atrophy, enabling targeted genetic testing.
Educational Value: Ocular telangiectasias represent an important clue for a diagnosis of ataxia-telangiectasia in young patients with progressive ataxia, implicating awareness of increased malignancy risk and treatment of immunodeficiency.
Phakomatosis pigmentovascularis type 2a: a rare case report.
AME Case Rep
December 2024
Department of Dermatology, King Fahad Medical City, Riyadh, Saudi Arabia.
Background: Phakomatosis pigmentovascularis (PPV) is a rare congenital cutaneous syndrome characterized by capillary malformation and extensive dermal melanosis. The complexity of PPV is reflected in its evolving classification systems. Systemic manifestations encompass ocular, neurological, vascular, musculoskeletal, and renal involvement.
View Article and Find Full Text PDFSuccessful Management of Thyrocervical Trunk Aneurysm Ruptured into the Thoracic Cavity After Cesarean Section in Nonstable Patient with Neurofibromatosis Type I.
Medicina (Kaunas)
December 2024
Department of Pharmacy, Faculty of Medical Sciences, University of Kragujevac, 34000 Kragujevac, Serbia.
Rupture of the thyrocervical trunk aneurysm into the thoracic cavity does not occur very often. It is an urgent condition due to hemorrhagic shock by massive hemothorax with potentially fatal consequences. Pregnancy and puerperium are additional risk factors for a rupture of the thyrocervical trunk aneurysm in patients with neurofibromatosis and aneurysms.
View Article and Find Full Text PDFATM Expression and Activation in Ataxia Telangiectasia Patients with and without Class Switch Recombination Defects.
J Clin Immunol
January 2025
Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children´s Medical Center, Tehran University of Medical Sciences, 62 Qarib St., Keshavarz Blvd, Tehran, 14194, Iran.
Background: Ataxia telangiectasia mutated (ATM) kinase plays a critical role in DNA double-strand break (DSB) repair. Ataxia telangiectasia (A-T) patients exhibit abnormalities in immunoglobulin isotype expression and class switch recombination (CSR). This study investigates the role of residual ATM kinase expression and activity in the severity of A-T disease.
View Article and Find Full Text PDFInternalizing and externalizing symptoms in individuals with neurofibromatosis type 1: a systematic review and meta-analysis.
Syst Rev
January 2025
Department of Behavioral Sciences and Social Medicine, College of Medicine, Florida State University, 1115 West Call Street, Tallahassee, FL, 32306-4300, USA.
Background: Individuals with neurofibromatosis type 1 (NF1) frequently report psychosocial problems, among which internalizing and externalizing symptoms are the most poorly understood due to limited research and inconsistent evidence. This hinders the overall attendance of their psychosocial needs and has a major impact on their quality of life. Thus, this systematic review and meta-analysis was conducted to synthesize existing findings on the degree to which individuals with NF1 experience internalizing and externalizing symptoms, compared with the unaffected population, and explore moderators of the group disparities.
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