Kawasaki disease (KD) is an acute systemic vasculitis primarily affecting children, characterized by fever and multisystem involvement. We present a compelling case of KD in a previously healthy 13-week-old infant who presented with fever, irritability, reduced feeding, and the subsequent development of classical mucocutaneous manifestations, including bilateral non-purulent conjunctivitis, cracked lips, and an erythematous rash. Laboratory findings revealed elevated inflammatory markers, thrombocytosis, and neutrophilic leukocytosis, consistent with the diagnosis. The patient was started on intravenous immunoglobulins (IVIG) at a dose of 2g/kg, IV methylprednisolone, and a high dose of aspirin. The infant was eventually transferred to a tertiary care hospital for comprehensive management. The case is intriguing due to its presentation in an atypical age group. Prompt recognition and management of KD are crucial to prevent the development of coronary artery abnormalities. This case underscores the importance of considering KD in the differential diagnosis of infants with fever and unusual clinical presentations, even in the absence of typical cardiac involvement. Early identification and appropriate treatment are essential to prevent potential complications and improve outcomes.
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http://dx.doi.org/10.7759/cureus.46748 | 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 PDFRadiat Oncol
January 2025
Department of Respiratory Medicine and Medical Oncology, Yokohama Municipal Citizen's Hospital, Yokohama, Kanagawa, Japan.
Introduction: Stage IV non-small cell lung carcinoma (NSCLC) with oligometastases is potentially curable by radical treatment. This study aimed to evaluate the efficacy and safety of chemoradiotherapy (CRT) for thoracic disease, including the primary lesion and lymph node metastases, combined with local consolidative therapy (LCT) for oligometastases.
Methods: This was a multicenter Phase II trial for patients with Stage IV NSCLC with oligometastases for whom CRT for thoracic disease was feasible.
Cardiovasc Pathol
January 2025
Department of Forensic Pathology, University Malaya Medical Centre, Lembah Pantai, 59100, WP Kuala Lumpur, Malaysia.
Aneurysmal Coronary Artery Disease (ACAD) can occur as localized dilations of a segment of one or more coronary arteries or diffuse ectasia-type dilatations of one or more coronaries. Atherosclerosis remains the most common cause of these aneurysms, with Kawasaki Disease being implicated in the Asian population. We present a case of a 62-year-old Asian woman who dies suddenly with no prior symptoms.
View Article and Find Full Text PDFJ Thorac Oncol
January 2025
Department of Respiratory Medicine and Medical Oncology, Yokohama Municipal Citizen's Hospital, 1-1 Mitsuzawa-Nishi-machi, Kanagawa-ku, Yokohama 221-0855, Japan.
Introduction: Osimertinib is the first-line treatment for patients with non-small cell lung cancer (NSCLC) who have EGFR mutations and favorable performance status (PS). Despite increasing clinical data on osimertinib, evidence in patients with an impaired PS remains limited. Therefore, a multicenter phase II trial (OPEN/TORG2040) was conducted to evaluate the efficacy and safety of first-line osimertinib for patients with EGFR mutation-positive NSCLC and poor PS.
View Article and Find Full Text PDFCoron Artery Dis
January 2025
Department of Pediatrics, Pidu Maternal and Child Care Hospital.
Objective: Kawasaki disease (KD) is a common children's disease with unknown etiology, which easily involves coronary artery and causes serious cardiovascular sequelae. The purpose was to investigate the relationship between chitotriosidase activity and coronary artery aneurysm (CAA) and develop and validate a nomogram to predict CAA in KD patients.
Methods: A total of 338 KD patients were included in this study.
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