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Unraveling Hematological Anomalies in DiGeorge Syndrome: A Retrospective Study of Thrombocytopenia and Mean Platelet Volume.
Cureus
February 2025
Pediatrics, Alexandria University, Alexandria, EGY.
Background: DiGeorge syndrome, arising from chromosome 22q11.2 deletion including the gene, is known for its multifaceted developmental anomalies affecting the heart, immune system, and facial morphology. Despite extensive clinical characterization, hematological manifestations, particularly thrombocytopenia, remain underexplored.
View Article and Find Full Text PDFA case report on azathioprine induced anagen effluvium, plica polonica, and bicytopenia in a patient of vitiligo.
Int J Risk Saf Med
January 2025
Department of Dermatology and Venereology, All India Institute of Medical Sciences, Bhubaneshwar, India.
Background: Anagen effluvium is described as abrupt hair loss during the anagen phase due to reduced follicular mitotic activity. Chemotherapeutic medicines, toxic metals, and sporadically bismuth, levodopa, colchicine, and cyclosporine are often implicated in etiology. Plica polonica is a rare disorder that develops when the scalp hair mats completely and abruptly, resulting in an extended stiff mass of hair that resembles dreadlocks.
View Article and Find Full Text PDFERCC6L2-Associated Inherited Bone Marrow Failure Syndrome: A Croatian Experience.
Cureus
January 2025
Department of Oncology and Hematology, Children's Hospital Zagreb, Zagreb, HRV.
Inherited bone marrow failure syndromes (IBMFS) are often misdiagnosed or lately diagnosed despite thorough medical assessment. Genomic investigations have largely facilitated correct diagnosis and enabled effective management in children with IBMFS. We present two unrelated adolescent females with unexplained prolonged bicytopenia, unremarkable medical history and normal physical findings who were diagnosed with a rare non-classical -associatedIBMFS.
View Article and Find Full Text PDFCardiovascular 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 PDFA hidden enemy: Understanding the hemophagocytic syndrome in children under five years of age in a high-complexity institution in southwestern Colombia.
Biomedica
December 2024
Facultad de Ciencias de la Salud, Universidad ICESI, Cali, Colombia, Departamento de Pediatría, Alergología e Inmunología Pediátrica, Fundación Valle del Lili, Cali, Colombia.
Introduction. Hemophagocytic syndrome is an under-recognized condition with high mortality in the pediatric population. It is characterized by excessive activation of immune cells and cytokine release, leading to persistent inflammation.
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