Incomplete Kawasaki disease (iKD), which does not satisfy the standard KD diagnostic criteria because the required number of principal symptoms is not met, sometimes causes coronary aneurysms. Here we report the case of a patient with iKD who presented with only one principal symptom that resulted in the development of coronary aneurysm, as evidenced by angiography.
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http://dx.doi.org/10.1536/ihj.18-647 | DOI Listing |
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 PDFCureus
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 PDFBJR 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 PDFEMBO J
December 2024
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.
View Article and Find Full Text PDFArch Dis Child
December 2024
Starship Children's Health, Auckland, New Zealand.
Background: Kawasaki disease (KD) is a childhood vasculitis which causes coronary artery aneurysms (CAA). There is a paucity of data regarding KD in Aotearoa New Zealand. We aimed to provide up-to-date epidemiological and clinical data about KD in the Auckland region.
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