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Cardiovascular complications in chronic active Epstein-Barr virus disease: a case report and literature review.
Front Pediatr
January 2025
Key Laboratory of Birth Defects and Related Diseases of Women and Children of Ministry of Education (MOE), West China Institute of Women and Children's Health, Key Laboratory of Development and Diseases of Women and Children of Sichuan Province, Department of Pediatrics, Department of Pediatric Cardiology, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.
Background: Cardiovascular involvement is a rare but severe complication of Epstein-Barr virus (EBV) infections. Patients with chronic active EBV (CAEBV) are at increased risk of developing cardiovascular complications and have a poor prognosis. Here, we report the rare case of a pediatric patient with CAEBV and EBV- hemophagocytic lymphohistiocytosis (HLH) complicated with a giant coronary artery aneurysm (CAA) and thrombosis, a giant Valsalva sinus aneurysm, and ascending aorta dilation seven years after the disease onset.
View Article and Find Full Text PDFGenetic landscape in undiagnosed patients with syndromic hearing loss revealed by whole exome sequencing and phenotype similarity search.
Hum Genet
January 2025
Division of Hearing and Balance Research, National Institute of Sensory Organs, NHO Tokyo Medical Center, 2-5-1 Higashigaoka, Meguro-Ku, Tokyo, 152-8902, Japan.
There are hundreds of rare syndromic diseases involving hearing loss, many of which are not targeted for clinical genetic testing. We systematically explored the genetic causes of undiagnosed syndromic hearing loss using a combination of whole exome sequencing (WES) and a phenotype similarity search system called PubCaseFinder. Fifty-five families with syndromic hearing loss of unknown cause were analyzed using WES after prescreening of several deafness genes depending on patient clinical features.
View Article and Find Full Text PDFBrugada Syndrome and Kawasaki Disease in a Two-Year-Old: A Case of Double Jeopardy.
Cureus
December 2024
Pediatric Cardiology, Children's Hospital at Montefiore, Bronx, USA.
Brugada syndrome (BrS) is a genetic channelopathy that may predispose to ventricular arrhythmia. It is inherited as an autosomal dominant pattern with incomplete penetrance. Fever can unmask Brugada syndrome in children who have a genetic predisposition.
View Article and Find Full Text PDFTorticollis in incomplete Kawasaki disease: a case of atlantoaxial rotatory fixation.
BJR Case Rep
November 2024
Department of Orthopaedic Surgery, Tokyo Metropolitan Toshima Hospital, Tokyo 173-0015, Japan.
Various respiratory, musculoskeletal, gastrointestinal, neurological, and urinary complications have been reported in Kawasaki disease. Here, we describe a rare case of atlantoaxial rotatory fixation (AARF) associated with incomplete Kawasaki disease. The case is of a healthy 4-year-old Japanese boy who had a high-grade fever, lymphadenopathy, and torticollis diagnosed with incomplete Kawasaki disease.
View Article and Find Full Text PDFCyclin-dependent kinase inhibitor p18 regulates lineage transitions of excitatory neurons, astrocytes, and interneurons in the mouse cortex.
EMBO J
January 2025
Neural Regeneration Lab, Neural Circuit Research Group, Korea Brain Research Institute, Daegu, Republic of Korea.
Neural stem cells (NSCs) can give rise to both neurons and glia, but the regulatory mechanisms governing their differentiation transitions remain incompletely understood. Here, we address the role of cyclin-dependent kinase inhibitors (CDKIs) in the later stages of dorsal cortical development. We find that the CDKIs p18 and p27 are upregulated at the onset of astrocyte generation.
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