Mody
Mostrando 1-12 de 64 artigos, teses e dissertações.
-
1. When do we need to suspect maturity onset diabetes of the young in patients with type 2 diabetes mellitus?
ABSTRACT Objetivo: Maturity onset diabetes of the young (MODY) patients have clinical heterogeneity as shown by many studies. Thus, often it is misdiagnosed to type 1 or type 2 diabetes(T2DM). The aim of this study is to evaluate MODY mutations in adult T2DM patients suspicious in terms of MODY, and to show clinical and laboratory differences between these
Archives of Endocrinology and Metabolism. Publicado em: 2022
-
2. Granuloma annulare and necrobiosis lipoidica in a patient with HNF1A-MODY
SUMMARY Maturity-onset diabetes of the young (MODY) is a heterogeneous group of monogenic forms of diabetes mellitus with distinct clinical features. Clinical dermatological phenotypes in MODY patients are very rare in literature. This report describes a patient with HNF1A-MODY presenting with necrobiosis lipoidica (NL) and granuloma annulare (GA). A 39-year
Archives of Endocrinology and Metabolism. Publicado em: 2022
-
3. MODY probability calculator for GCK and HNF1A screening in a multiethnic background population
ABSTRACT Objective We aimed to identify the frequency of monogenic diabetes, which is poorly studied in multiethnic populations, due to GCK or HNF1A mutations in patients with suggestive clinical characteristics from the Brazilian population, as well as investigate if the MODY probability calculator (MPC) could help patients with their selection. Subjects
Arch. Endocrinol. Metab.. Publicado em: 2020-02
-
4. MODY probability calculator for GCK and HNF1A screening in a multiethnic background population
ABSTRACT Objective We aimed to identify the frequency of monogenic diabetes, which is poorly studied in multiethnic populations, due to GCK or HNF1A mutations in patients with suggestive clinical characteristics from the Brazilian population, as well as investigate if the MODY probability calculator (MPC) could help patients with their selection. Subjects
Arch. Endocrinol. Metab.. Publicado em: 30/09/2019
-
5. Searching for mutations in the HNF1B gene in a Brazilian cohort with renal cysts and hyperglycemia
ABSTRACT Objective To verify the presence of variants in HNF1B in a sample of the Brazilian population selected according to the presence of renal cysts associated with hyperglycemia. Subjects and methods We evaluated 28 unrelated patients with clinical suspicion of HNF1B mutation because of the concomitant presence of diabetes mellitus (DM) or prediabet
Arch. Endocrinol. Metab.. Publicado em: 02/05/2019
-
6. Diabetes monogênica tipo MODY com início na juventude causado por uma mutação GKC de novo não descrita anteriormente
O diabetes da maturidade com início na juventude (MODY) é um grupo heterogêneo de doenças monogênicas que resultam em disfunção das células β, com uma prevalência estimada de 1-2% nos países industrializados. O MODY geralmente ocorre em pacientes não obesos, negativos para autoanticorpos e que apresentam hiperglicemia de leve a moderada. As carac
Arq Bras Endocrinol Metab. Publicado em: 2014-10
-
7. INVESTIGAÇÃO DE MODY 3 EM PACIENTES DO AMBULATÓRIO DE DM 1 DO HOSPITAL UNIVERSITÁRIO DA UNIVERSIDADE FEDERAL DO MARANHÃO (HUUFMA) / INVESTIGATION OF MODY 3 IN PATIENTS OF THE AMBULATORY OF DM 1 OF UNIVERSITY HOSPITAL OF THE FEDERAL UNIVERSITY OF MARANHÃO (HUUFMA)
Maturity onset diabetes of young 3 (MODY 3)é o mais frequente diabetes mellitus (DM) monogênico autossômico dominante causado por mutações no gene HNF 1A e caracterizado por defeito na secreção de insulina, diminuição no limiar renal de glicose e sensibilidade a sulfonureia, na maioria das vezes. Com frequência é diagnosticado erroneamente como DM
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 16/03/2012
-
8. Seguimento clínico de dois pacientes brasileiros com MODY-glicoquinase (MODY2) e descrição de uma nova mutação
Mutações no gene da glicoquinase (GCK) são determinantes de uma forma de diabetes monogênico denominada de MODY2 (maturity-onset diabetes of the young, tipo 2). O padrão clínico dessa forma de distúrbio glicêmico é bastante estável, com hiperglicemia leve, geralmente não progressiva. Intervenções farmacológicas raramente são necessárias e com
Arq Bras Endocrinol Metab. Publicado em: 2012-11
-
9. Hiperglicemia incidental em crianças: duas famílias com MODY 2 identificadas em brasileiros
O diabetes do tipo MODY (maturity-onset diabetes of the young) caracteriza-se por herança autossômica dominante, início precoce da hiperglicemia e defeitos na secreção de insulina. Os subtipos de MODY apresentam diferenças genéticas, metabólicas e clínicas. O MODY 2 é caracterizado por hiperglicemia leve assintomática e raramente requer tratamento
Arq Bras Endocrinol Metab. Publicado em: 2012-11
-
10. Variants of the HNF1α gene: a molecular approach concerning diabetic patients from southern Brazil
Maturity Onset Diabetes of the Young (MODY) presents monogenic inheritance and mutation factors which have already been identified in six different genes. Given the wide molecular variation present in the hepatocyte nuclear factor-1α gene (HNF1α) MODY3, the aimof this study was to amplify and sequence the coding regions of this gene in seven patients from
Genet. Mol. Biol.. Publicado em: 09/10/2012
-
11. Physiochemical parameters optimization for enhanced nisin production by Lactococcus lactis (MTCC 440)
The influence of various physiochemical parameters on the growth of Lactococcus lactis sub sp. lactis MTCC 440 was studied at shake flask level for 20 h. Media optimization (MRS broth) was studied to achieve enhanced growth of the organism and also nisin production. Bioassay of nisin was done with agar diffusion method using Streptococcus agalactae NCIM 2401
Brazilian Archives of Biology and Technology. Publicado em: 2010-02
-
12. A missense TCF1 mutation in a patient with mody-3 and liver adenomatosis
Clinics. Publicado em: 2010