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Atypical parathyroid tumor: A rare cause of primary hyperparathyroidism in an adolescent.
Arch Argent Pediatr
January 2025
Hospital Italiano de Buenos Aires, City of Buenos Aires, Argentina.
Hyperparathyroidism is a rare entity in pediatrics. It is defined as the increased production of parathyroid hormone. It may be due to a primary defect of the parathyroid glands (primary hyperparathyroidism) or to a compensatory parathyroid hormone production to correct hypocalcemia states of various origins (secondary hyperparathyroidism).
View Article and Find Full Text PDFBeyond the Atypical: Gastrointestinal Manifestations in Kawasaki Disease.
Cureus
December 2024
General Pediatrics, Al Qassimi Women's and Children's Hospital, Sharjah, ARE.
Kawasaki disease (KD) is an acute vasculitis mainly seen in children, with a specific risk for coronary artery involvement. Atypical symptoms can sometimes result in missed diagnoses, delaying necessary treatment and increasing the chances of serious cardiovascular complications. We report a case of a six-month-old previously healthy girl who had not been vaccinated.
View Article and Find Full Text PDFIntussusception of Meckel's Diverticulum: A Case Report.
Cureus
December 2024
Colorectal Surgery, Blackpool Teaching Hospitals, Blackpool, GBR.
Meckel's diverticulum (MD) is a common congenital anomaly of the gastrointestinal tract, present in approximately 2% of the population. While typically asymptomatic, MD can lead to complications such as obstruction and intussusception. Here, we present a case report of a man presenting with abdominal pain with an incidental finding of MD complicated by intussusception and our management approach.
View Article and Find Full Text PDFNovel NOTCH3 mutation c.1564 T > A (p.Cys522Ser) presenting with early-onset Parkinsonism and white matter lesions.
Clin Park Relat Disord
January 2025
Cerebrovascular Unit Fondazione IRCCS Istituto Neurologico Carlo Besta Milan Italy.
CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary small vessel disease caused by mutations in the NOTCH3 gene, characterized by recurrent strokes, cognitive decline, and psychiatric symptoms. This report presents a novel NOTCH3 c.1564 T > A (p.
View Article and Find Full Text PDFFibromuscular Dysplasia Clinical Phenotype Manifesting as a Distal Spontaneous Coronary Artery Dissection in a Middle-Aged Man.
Cureus
January 2025
Internal Medicine, University of Florida College of Medicine, Gainesville, USA.
Fibromuscular dysplasia (FMD) is a non-atherosclerotic, non-inflammatory vascular disease of medium-sized arteries that causes abnormal cellular growth in arterial walls and most commonly affects young to middle-aged women (20-50 years of age). While FMD often involves the renal arteries, it can affect any arterial bed. FMD has a characteristic angiographic appearance of a "string of beads.
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