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Endocrine alterations in patients with pachydermoperiostosis.
J Clin Endocrinol Metab
January 2025
Centre for Endocrinology, William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
Context: Pachydermoperiostosis (primary hypertrophic osteoarthropathy, PHO) usually due to biallelic loss-of-function variants in HPGD and SLCO2A1, has some features overlapping with acromegaly and often referred to endocrinologists. A detailed endocrine assessment is not available for these patients.
Objective: To assess the genetic and endocrine characteristics of PHO patients referred to endocrine centres with a possible diagnosis of acromegaly.
Idiopathic pulmonary arteriovenous malformation: a rarity in clinical practice.
J Vasc Bras
January 2025
Universidade Federal da Paraíba - UFPB, Hospital Universitário Lauro Wanderley - HULW, João Pessoa, PB, Brasil.
Pulmonary arteriovenous malformations (PAVM) are characterized by abnormal pulmonary vessels forming arteriovenous shunts that compromise oxygenation of the blood, causing hypoxemia, and predispose to infections and cerebral ischemia. The patient in this case was a 38-year-old male who presented with tachypnea and dyspnea, cyanosis of extremities, and significant digital clubbing. The patient had structural epilepsy secondary to neurosurgery for a cerebral abscess during childhood.
View Article and Find Full Text PDFDouble Outlet Right Ventricle: A Rare Finding in a 15-Month-Old Female With Failure to Thrive.
Clin Case Rep
January 2025
Department of Radiology and Radiotherapy, School of Medicine, College of Health Sciences Makerere University Kampala Uganda.
Double outlet right ventricle (DORV) is a rare congenital heart defect where both the aorta and pulmonary artery originate from the right ventricle, often accompanied by additional cardiac anomalies to mitigate circulatory imbalance, though such compensations usually fail. We report a 15-month-old infant with recurrent respiratory infections and poor weight gain, referred for computed tomography angiography. Physical examination showed a small, non-syndromic infant with pallor, tachypnea, irritability, and finger clubbing.
View Article and Find Full Text PDFAutonomous detection of nail disorders using a hybrid capsule CNN: a novel deep learning approach for early diagnosis.
BMC Med Inform Decis Mak
December 2024
Department of Electrical Power, Adama Science and Technology University, Adama, 1888, Ethiopia.
Major underlying health issues can be indicated by even minor nail infections. Subungual Melanoma is one of the most severe kinds since it is identified at a much later stage than other conditions. The purpose of this research is to offer novel deep-learning algorithms that target the autonomous categorization of six forms of nail disorders by employing images: Blue Finger, Clubbing, Pitting, Onychogryphosis, Acral Lentiginous Melanoma, and Normal Nail or Healthy Nail Appearance.
View Article and Find Full Text PDFEisenmenger syndrome during pregnancy: A true anesthetic challenge.
Med J Armed Forces India
December 2024
Professor & Senior Advisor, (Anaesthesia & Critical Care), Command Hospital (Eastern Command), Kolkata, West Bengal, India.
Eisenmenger syndrome (ES) is a rare congenital heart disease (CHD) that occurs in persons with large intracardiac anatomical defects which may go undetected for many years, consequently results in reduced life expectancies and high mortality in the third and fourth decade of life. Pregnancy in patients with CHD and pulmonary arterial hypertension (PAH) is presaged with challenges, and perioperative management of such cases remains a topic of debate. Our case had both, atypical presentation, not diagnosed until her third trimester of third pregnancy and a quick progression to a severe stage with PAH and CorPulmonale.
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