MAPPING HUMAN DISEASE-ASSOCIATED ENZYMES INTO REACTOME ALLOWS CHARACTERIZATION OF DISEASE GROUPS AND THEIR INTERACTIONS

Mapping human disease-associated enzymes into Reactome allows characterization of disease groups and their interactions

Abstract According to databases such as OMIM, Humsavar, Clinvar and Monarch, 1494 human enzymes are presently associated to 2539 genetic diseases, 75% of which are rare (with an Orphanet code).The Mondo ontology initiative allows a standardization of the disease name into specific codes, making it possible a computational association between genes,

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Results of surgical correction of gigantic left atrium

We presented a clinical case of surgical treatment of gigantic left atrium in longstanding mitral regurgitation due to mitral valve disease diagnosed 23 years ago (patient refused surgery and was on medical treatment) and complicated by atrial fibrillation.The patient was referred for surgery with complaints on severe dyspnea on minimal exertion, w

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Descriptive study of burnout, compassion fatigue and compassion satisfaction in undergraduate nursing students at a tertiary education institution in KwaZulu-Natal

Background: Studies have investigated burnout and compassion fatigue among nurses and effects in the nursing profession.However, there are limited investigations of burnout and compassion fatigue among undergraduate nursing students in South Africa, as nursing students may experience distressful situations during their nursing education course, whi

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