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Familial adenomatous polyposis (FAP) is an autosomal dominant-inherited disease caused by germline variants in the APC gene. It is characterized by the development of hundreds to thousands of adenomatous polyps in colon and rectum. Recently, biallelic germline variants in the base excision repair (BER) gene: MUTYH have been identified in patients with attenuated FAP and/or negative APC result. It can be responsible for an autosomal recessive inherited colorectal cancer syndrome (MAP syndrome: MUTYH-associated polyposis).
This article was published in the following journal.
Name: Cancer genetics
The HIV subtype B is the most frequent in Brazil. The HIV subtype B' codes the amino acids glicine-tryptophan-glicine (GWG) instead of glicine-proline-glicine on the tip of gp120 V3 loop. This variant...
Frequent emergency department users are patients cumulating at least four visits per year. Few studies have focused on persistent frequent users, who maintain their frequent user status for multiple c...
Several studies have been published on the frequency of the mucopolysaccharidoses (MPS) in different countries. The objective of the present study was to estimate the birth prevalence (BP) of MPS in B...
Safety and efficacy of tocilizumab as monotherapy or in combination with methotrexate in Tunisian patients with active rheumatoid arthritis and inadequate response to disease-modifying anti-rheumatic drugs in conditions close to clinical practice.
We aimed to assess the safety and efficacy of tocilizumab as monotherapy or in combination with methotrexate in a routine clinical practice setting in Tunisian patients with RA who did not respond to ...
Patients with frequent exacerbations represent a chronic obstructive pulmonary disease (COPD) sub-group requiring better treatment options. The aim of this study was to determine the innate immune mec...
The Tunisian Society of Cardiology and Cardiovascular Surgery (STCCCV) proposes to coordinate a national, observational, cross-sectional and multicenter survey carried out during one month...
The National Tunisian Registry of Percutaneous Coronary Intervention is an observational, prospective and multicenter study aiming to assess coronary intervention strategies in tunisian de...
NATURE-HF is an observational, multicentric and longitudinal study of heart failure performed with 100 tunisian cardiologists.
The publications on prevalence and risk factors of urinary and anal incontinence in women were performed mainly in Europe and America. Consequently, result extrapolation to Tunisian popula...
The purpose of this study is to determine whether BVS(Bioresorbable Vascular Scaffold) can improve the outcome of patients with variant angina and moderate coronary artery disease compared...
A defective variant of MEASLES VIRUS that has been isolated from the brain tissue of patients with subacute sclerosing panencephalitis.
Pathological processes of the VESTIBULAR LABYRINTH which contains part of the balancing apparatus. Patients with vestibular diseases show instability and are at risk of frequent falls.
The inflammation of a sweat gland (usually of the apocrine type). The condition can be idiopathic or occur as a result of or in association with another underlying condition. Neutrophilic eccrine hidradenitis is a relatively rare variant that has been reported in patients undergoing chemotherapy, usually for non-Hodgkin lymphomas or leukemic conditions.
Pulmonary injury following the breathing in of toxic smoke from burning materials such as plastics, synthetics, building materials, etc. This injury is the most frequent cause of death in burn patients.
A malignant disease characterized by progressive enlargement of the lymph nodes, spleen, and general lymphoid tissue. In the classical variant, giant usually multinucleate Hodgkin's and REED-STERNBERG CELLS are present; in the nodular lymphocyte predominant variant, lymphocytic and histiocytic cells are seen.
Bioinformatics is the application of computer software and hardware to the management of biological data to create useful information. Computers are used to gather, store, analyze and integrate biological and genetic information which can then be applied...