Results of realization of the protocols of organization of the medico-diagnostic care to patients with bleedings from chronic gastric and duodenal ulcers since 2002 have been analyzed. A simplified scale of the assessment of severity of ulcerous bleedings (UB) at admission including 8 criteria is proposed. Protocols of medical strategy for "severe UB" under conditions of the resuscitation unit are discussed. The principles of rendering the medico-diagnostic care for UB allowed stabilization of total lethality among these patients at the level of 3.4-3.7% at operative activity 27%. The possibility to improve results of the treatment of this pathology in future is associated by the authors with the available and high quality elements of conservative treatment.
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Genes (Basel)
August 2024
Department of Neurology, University Hospital "Alexandrovska", Medical University Sofia, 1431 Sofia, Bulgaria.
Sarcoglycanopathies are among the most frequent and severe forms of autosomal recessive forms of limb-girdle muscular dystrophies (LGMDs) with childhood onset. Four subtypes are known: LGMDR3, LGMDR4, LGMDR5 and LGMDR6, which are caused, respectively, by mutations in the , SGCB, and genes. We present the clinical variability of LGMD 2C/R5 among a genetically homogeneous group of 57 patients, belonging to 35 pedigrees.
View Article and Find Full Text PDFAm J Hum Genet
July 2024
Centre de recherche Azrieli du CHU Sainte-Justine, Montreal, QC H3T 1C5, Canada; Department of Pediatrics, University of Montreal, Montreal, QC H3T 1C5, Canada.
Clin Chim Acta
October 2020
Clinic of Nervous Diseases, Alexandrovska University Hospital, Medical University - Sofia, Bulgaria; Department of Cognitive Science and Psychology, New Bulgarian University, Sofia, Bulgaria.
Appropriate testing strategies and strict model for Center Of Excellence (CoE) support are essential for the correct diagnosis, follow-up strategy and treatment plan for transthyretin (ATTR) amyloidosis. CoE is defined as a programme within a healthcare institution established to provide an exceptionally high concentration of expertise and related resources centred on a particular area of medicine, delivering associated care in a comprehensive, interdisciplinary fashion to afford the best patient outcome. Ideally, CoEs provide regular education and training for healthcare professionals and share knowledge and learning with other CoEs and specialists to ensure the highest standards of care.
View Article and Find Full Text PDFNeuromuscul Disord
August 2018
Department of Neurology, University Hospital "Alexandrovska", Medical University, Sofia, Bulgaria; Department of Cognitive Science and Psychology, New Bulgarian University, Sofia, Bulgaria.
Mutations in TCAP gene cause autosomal recessive limb-girdle muscular dystrophy type 2G (LGMD2G), congenital muscular dystrophy and autosomal dominant dilated and hypertrophic cardiomyopathy. We studied 18 affected individuals from 12 pedigrees, belonging to a Bulgarian Muslim minority from the South-West of Bulgaria, homozygous for the c.75G>A, p.
View Article and Find Full Text PDFWorld J Gastroenterol
September 2015
Tanya Kadiyska, Genetic Medico-Diagnostic Laboratory Genica, Sofia 1463, Bulgaria.
Colorectal cancer (CRC) is fourth most common cancer in men and third in women worldwide. Developing a diagnostic panel of sensitive and specific biomarkers for the early detection of CRC is recognised as to be crucial for early initial diagnosis, which in turn leads to better long term survival. Most of the research on novel potential CRC biomarkers in the last 2 decades has been focussed on stool DNA analysis.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!