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Precocious puberty: the unlikely herald of Familial adenomatous polyposis in a young girl.
BMJ Case Rep
January 2025
Endocrinology, Government Medical College Thiruvananthapuram, Thiruvananthapuram, Kerala, India.
We describe the case of a girl in her middle childhood who presented with signs of heterosexual precocious puberty in the form of axillary and pubic hair growth, acne and clitoromegaly. Investigations showed elevated androgens and autonomous cortisol excess, suggesting an adrenal source. CT imaging confirmed a left adrenal mass and multiple colonic polyps.
View Article and Find Full Text PDFSex Differences in the Incidence of Sudden Cardiac Arrest/Death in Competitive Athletes: A Systematic Review and Meta-analysis.
Sports Med
January 2025
Department of Sports Medicine, Pontchaillou Hospital, Rennes, France.
Background: Although many studies have demonstrated a lower incidence of sudden cardiac arrest or death (SCA/D) in female athletes than in male, there is limited understanding of the specific underlying causes.
Objective: This systematic review aimed to assess the disparities in SCA/D incidence between male and female competitive athletes and explore the associated etiologies.
Methods: A comprehensive search was conducted for retrospective and prospective studies examining SCA/D incidence in male and female athletes.
One-year mortality and re-admission rate by disease etiology in National Heart Failure Registry of India.
Nat Commun
January 2025
Sree Chitra Tirunal Institute for Medical Sciences and Technology (SCTIMST), Trivandrum, India.
Survival outcomes of patients with heart failure (HF) based on their disease etiology are not well described. Here, we provide one-year mortality outcomes of 10850 patients with HF (mean age = 59.9 years, 31% women) in India.
View Article and Find Full Text PDFUnrecognized Inter-Coronary Communication in a Case of Hypertrophic Cardiomyopathy.
Discoveries (Craiova)
September 2024
Department of Cardiology, Rashid Hospital, Dubai, United Arab Emirates.
Inter-coronary communication is a rare congenital anomaly, defined as a connection between two patent coronary arteries, and was first described in 1972. We report the case of a 61-year-old Emirati female who presented to the emergency department with chest pain and palpitations, along with a strong family history of cardiac disease. She was initially diagnosed with indolent hypertrophic obstructive cardiomyopathy and accordingly managed; however, the patient remained symptomatic.
View Article and Find Full Text PDFA founder variant in the RYR1 gene is associated with hyperCKemia, myalgia and muscle cramps.
Eur J Neurol
January 2025
Genetics Department, Institut de Recerca Sant Pau (IR SANT PAU), Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
Background And Purpose: Pathogenic variants in the RYR1 gene have been associated with a variety of conditions, ranging from congenital myopathy to adult manifestations. Our aim was to characterize the p.Leu2286Val variant in 17 Basque patients, to accurately determine its correlation with clinical features and to explore the possible founder effect of the variant.
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