Two cases of abdominal fibromatosis are followed-up in two brothers patients development, each of them having a peculiar development. First of them underwent operation for a huge abdominal tumor with a retroperitoneal origin and intraperitoneal development which needed a complex partial resection with first jejunal loop enterectomy. The other patient had first surgery for fibrosarcoma of nuchal area and after that he underwent an operation for superior digestive haemorrhagia as a result of antral gastric fibroid tumor with transverse colic and mezocolic extension, which needed gastro-colectomy. The patients father was followed up for tangible abdominal tumors, but he rejected the proposed coeliotomia. The two brothers patients had a good postoperative development. The examination of the charriotype showed anomalies of the short branch of the 21st and 22nd chromosome (which are still normal).
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EJIFCC
December 2024
Department of Chemical Pathology, Inkosi Albert Luthuli Central Hospital, National Health Laboratory Service and University of KwaZulu Natal, Durban, South Africa.
Background: Familial hypocalciuric hypercalcemia (FHH) is a rare, benign condition that shares characteristics with primary hyperparathyroidism (PHPT), a more sinister condition that requires surgical intervention. This case report demonstrates misdiagnosis of FHH and highlights important learning points to prevent this in the future.
Case Presentation: Hypercalcaemia was incidentally discovered in a 21-year-old patient who had no symptoms of hypercalcaemia and no significant family history.
Am J Med Genet A
January 2025
Medical Genetics and Genomic Medicine-Department of Translational Medicine, School of Medical Sciences, Campinas, Brazil.
Myhre syndrome is a rare disorder caused by pathogenic gain-of-function variants in the SMAD4 gene. Most of the patients have had de novo variants. There are several instances of autosomal dominant inheritance, and penetrance appears to be complete.
View Article and Find Full Text PDFCureus
December 2024
Cardiology, King Khalid University Hospital, Riyadh, SAU.
Troponin is a highly specific biomarker for myocardial injury. It plays a critical role in the diagnosis of acute coronary syndrome (ACS). However, elevated troponin levels are not exclusively due to cardiac ischemia and may be observed in many non-cardiac conditions, including inflammatory myopathies.
View Article and Find Full Text PDFJ Soc Cardiovasc Angiogr Interv
December 2024
Cardiovascular Institute, Detroit Medical Center, DMC Heart Hospital, Detroit, Michigan.
Transcatheter aortic valve repair (TAVR) presents a minimally invasive alternative to traditional surgical valve replacement, albeit not without its own set of complications. A rare complication is the infolding of the self-expanding valve, which can precipitate cardiac arrest. The estimated incidence rate of this complication stands at 1.
View Article and Find Full Text PDFNeurol Genet
December 2024
From the The Institute of Clinical Medicine (K.Õ., T.R., E.Õ.-S., L.M., S. Pajusalu), Faculty of Medicine, University of Tartu; Genetics and Personalized Medicine Clinic (K.Õ., T.R., L.M., Sander Pajusalu); Children's Clinic (E.O.-S.); Pathology Department (S. Puusepp), Tartu University Hospital, Estonia; Folkhalsan Research Center (M.S., B.U.), Helsinki; and Tampere Neuromuscular Center (B.U.), Tampere, Finland.
Background And Objectives: Tibial muscular dystrophy (TMD) is an autosomal dominant, slowly progressive late-onset distal myopathy. TMD was first described in 1991 by Udd et al. in Finnish patients, who were later found to harbor a heterozygous unique 11-bp insertion/deletion in the last exon of the gene-the Finnish founder variant (FINmaj).
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