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The clinical presentation and genetic diagnosis of Tangier disease in the pediatric age group.
J Pediatr Endocrinol Metab
January 2025
Division of Pediatric Neurology, Department of Pediatrics and Child Health, Erciyes University, Faculty of Medicine, Kayseri, Türkiye.
Objectives: Tangier disease (TD) is a rare autosomal recessive condition characterized by high-density lipoprotein (HDL) deficiency; involving symptoms of polyneuropathy, hyperplastic orange-yellow tonsils, vision disorder, and sudden cardiac death. The major clinical symptoms of TD may not all be co-present. This study evaluates patients diagnosed with TD in childhood to improve the possibility of early diagnosis of asymptomatic cases by reporting our patients' clinical characteristics in order to minimize delayed diagnosis and emphasize the importance of TD, easily detected by HDL measurement.
View Article and Find Full Text PDFAn atrial septal defect (ASD) is a common congenital heart anomaly that results in irregular blood flow between the systemic and pulmonary circulations due to an opening in the atrial septum. Ostium secondum ASD accounts for a large proportion of these defects and often goes unnoticed during childhood and adolescence. Pulmonary hypertension (PH), affecting a significant number of patients with ostium secondum ASD, is associated with functional limitations, heart failure, and tachyarrhythmias.
View Article and Find Full Text PDFCatheter ablation of atrial flutter in an adult with a univentricular heart, common atrium, and single atrioventricular valve: a case report-'complex things don't always require a complex solution'.
Eur Heart J Case Rep
January 2025
Cardiac Electrophysiology, National Medical Center 'November 20th', ISSSTE, Av. Felix Cuevas #540, Col. Del Valle Del. Benito Juarez, C.P. 03100 Mexico City, Mexico.
Background: The 'univentricular' heart encompasses a variety of congenital cardiac defects characterized by a single functional ventricle and an underdeveloped ventricular chamber. Surgical intervention, typically in infancy or childhood, aims to regulate pulmonary blood flow volume. In adulthood, untreated patients may experience limitations in physical activity and elevated morbidity due to persistent cyanosis and arrhythmias, notably after the Fontan procedure.
View Article and Find Full Text PDFA retrospective review of the common childhood illnesses and the indications for antibiotic prescription at community hospital in Malawi.
Front Antibiot
September 2024
Research and Education, Clinical Research Education and Management Services (CREAMS), Lilongwe, Malawi.
Background: Childhood remains a vulnerable period and a key determiner for adult health. Various illnesses experienced by children in their early years determine future performance and contribution to society. Acute and chronic infectious diseases, undernutrition, and early childhood non-communicable diseases have greatly been linked to intellectual disability, poor childhood development, increased morbidity, and household and healthcare economic costs.
View Article and Find Full Text PDFImpact of early-life malaria exposure on childhood stunting: A case-control study in high endemic malaria area, Papua, Indonesia.
Narra J
December 2024
Department of Midwifery, Politeknik Kesehatan Jayapura, Jayapura, Indonesia.
Papua faces public health challenges as a region with high malaria endemicity and a very high prevalence of stunting. Infectious diseases are one of the risk factors for stunting. The aim of this study was to investigate the effect of early-life malaria exposure on stunting among children in Papua.
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