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Familiar Disposition of May–Thurner Syndrome—A Case Series
May–Thurner syndrome is a venous compression syndrome of the pelvic vessels that represents a relevant risk factor for thrombus formation. The standard procedure to secure a diagnosis is venography, followed by endovascular therapy as the preferred ...
Stefanie Nowak +5 more
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Hereditary pancreatitis is an autosomal dominant condition, which results in recurrent attacks of acute pancreatitis, progressing to chronic pancreatitis often at a young age. The majority of patients with hereditary pancreatitis express one of two mutations (R122H or N29I) in the cationic trypsinogen gene (PRSS1 gene).
openaire +2 more sources
El cáncer de mama ocupa el primer lugar en incidencia y mortalidad entre las mujeres costarricenses, para el año 2011, se tiene una proyección de 1 071 casos nuevos. Mediante selección directa se reclutaron 116 pacientes diagnosticadas con cáncer de mama
Laura García-Jiménez +2 more
doaj
A Rare Case Report of Zinsser–Engman–Cole Syndrome: A Hereditary Cause of Aplastic Anemia
Dyskeratosis congenita (DC), also known as Zinsser–Engman–Cole syndrome, is a rare cause of hereditary aplastic anemia. Here, we report a case of a 31-year-old male who presented with complaints of shortness of breath and recurrent episodes of fever for ...
Ch. Harshika, L. Sunil Kumar
doaj +1 more source
Editorial: Hereditary Breast and Ovarian Cancer: Current Concepts of Prevention and Treatment
Anne Grabenstetter +2 more
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Familial aggregation of tonsillectomy in early childhood and adolescence
Peter Bager, Giulia Corn, Jan Wohlfahrt, Heather A Boyd, Bjarke Feenstra, Mads Melbye Department of Epidemiology Research, Statens Serum Institut, Copenhagen, Denmark Background: The tonsils are immunological gatekeepers against ...
Bager P +5 more
doaj
Case report: ZFYVE19 gene mutation is associated with familial cholestasis
The etiology of cholestatic liver disease is complex, with clinical manifestations being nonspecific, and biochemical abnormalities mainly characterized by elevated alkaline phosphatase (ALP) and glutamyl transpeptidase (GGT). Due to the lack of specific
Mei-Yan Xue +8 more
doaj +1 more source

