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  1. Article: Classification of diabetes.

    Maraschin, Jorge de Faria

    Advances in experimental medicine and biology

    2012  Volume 771, Page(s) 12–19

    Abstract: Diabetes mellitus (DM) represents a heterogeneous group of conditions that share certain characteristics with hyperglycemia as a common feature. The first worldwide accepted classification scheme for DM was published in 1979 by the National Diabetes Data ...

    Abstract Diabetes mellitus (DM) represents a heterogeneous group of conditions that share certain characteristics with hyperglycemia as a common feature. The first worldwide accepted classification scheme for DM was published in 1979 by the National Diabetes Data Group (NDDG) and classified DM based on the pharmacologic therapy applied into two major groups: Insulin-dependent diabetes mellitus (IDDM) and non-insulin-dependent diabetes mellitus (NIDDM). The terms coined by the NDDG became popular during the 1980s and 1990s, but with time, the misclassification of patients became evident. Since the correct classification of DM allows a more adequate treatment, the new classification proposed by the American Diabetes Association in 1997 was based in the pathogenesis of the disease and comprises four categories: Type 1 DM, Type 2 DM, other types and gestational diabetes. Despite significant advances in diabetes understanding, some gray areas still remain and new studies are necessary to further improve diabetes classification.
    MeSH term(s) Diabetes Mellitus, Type 1/classification ; Diabetes Mellitus, Type 1/etiology ; Diabetes Mellitus, Type 1/physiopathology ; Diabetes Mellitus, Type 2/classification ; Diabetes Mellitus, Type 2/etiology ; Diabetes Mellitus, Type 2/physiopathology ; Endocrinology/standards ; Humans ; Societies, Medical ; Terminology as Topic
    Language English
    Publishing date 2012-09-04
    Publishing country United States
    Document type Journal Article ; Review
    ISSN 2214-8019 ; 0065-2598
    ISSN (online) 2214-8019
    ISSN 0065-2598
    DOI 10.1007/978-1-4614-5441-0_2
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Classificação do diabete melito Diabetes mellitus classification

    Jorge de Faria Maraschin / Nádia Murussi / Vanessa Witter / Sandra Pinho Silveiro

    Arquivos Brasileiros de Cardiologia, Vol 95, Iss 2, Pp 40-

    2010  Volume 46

    Abstract: ... ocorrer sobreposição de quadros, principalmente no DM que inicia no adulto jovem ou que se apresenta ... inicialmente com cetoacidose, intermediários ao DM 1 e DM 2. Assim, acréscimos ao sistema de classificação ... clássico têm sido propostos, avaliando a presença de autoimunidade (anticorpos) e a função de célula β ...

    Abstract A correta classificação do diabete melito (DM) permite o tratamento mais adequado e compreende quatro categorias: DM tipo 1; DM tipo 2; Outros tipos e Diabete Gestacional. Em alguns casos, pode ocorrer sobreposição de quadros, principalmente no DM que inicia no adulto jovem ou que se apresenta inicialmente com cetoacidose, intermediários ao DM 1 e DM 2. Assim, acréscimos ao sistema de classificação clássico têm sido propostos, avaliando a presença de autoimunidade (anticorpos) e a função de célula β (peptídeo-C) para definir mais precisamente os subtipos. O objetivo desta revisão foi de analisar o desempenho desses índices diagnósticos para a classificação do DM e descrever os subtipos em detalhe. Os anticorpos contra o pâncreas evidenciam a autoimunidade, sendo o anticorpo contra insulina o mais acurado antes dos 5 anos de idade e o anti-descarboxilase do ácido glutâmico para início da doença acima dos 20 anos, é esse o teste que permanece positivo por mais tempo. Já a medida do peptídeo-C avalia a reserva pancreática de insulina, e os métodos de estímulo mais usados são a medida após refeição ou após glucagon endovenoso. Valores de peptídeo-C < 1,5 ng/ml definem o paciente com função pancreática ausente, e acima desse valor, com função preservada. Combinando-se a presença de anticorpos (A+) dirigidos ao pâncreas e a sua capacidade secretória de insulina (β+), pode-se subdividir a classificação do DM em tipo 1A (A+β-) e 1B (A+ β-); e o DM tipo 2 em subgrupos de DM 2A (A+β+) e DM 2B (A-β+), o que permite uma classificação e tratamento mais precisos, além de abrir os horizontes para o entendimento da patogênese do DM. The right classification for diabetes mellitus (DM) allows a more adequate treatment and comprises four categories: type 1 DM, type 2 DM, other types, and gestational diabetes. In some cases, there might be a superposition of situations, especially with regard to the DM that initiates in the young adult or is initially presented with diabetic ketoacidosis intermediately to type 1 and 2 DM. Thus, additions to the classic classification system have been proposed as assessing the presence of autoimmunity (antibody) and b cell function (C-peptide) to precisely define the subtypes. The aim of this literature review was to analyze these diagnostic indexes’ performance in the DM classification and to describe subtypes with details. The antibodies against pancreas confirm autoimmunity, and the antibody against insulin is more accurate before 5 years old, while the anti-glutamic acid decarboxylase is more accurate after 20 years old, a test which remains positive for a longer period. The measurement of C-peptide evaluates the pancreatic insulin reserve, and the most largely used methods of stimulation are the measurement after meals or after intravenous glucagon. C-peptide values < 1.5 ng/ml define a patient with absent pancreatic function and, above this value, patients with preserved function. When the presence of antibodies (A+) directed to the pancreas is combined to its insulin secretion capability (β+), it is possible to subdivide DM’s classification in type 1A (A+β-) and 1B (A+β-); and type 2A (A+β+) and 2B (A-β+), which allows a more precise classification and treatment besides opening horizons for the understanding of DM pathogenesis.
    Keywords Diabete melito ; ácido glutâmico ; carboxi-líases ; peptídeo C ; Diabetes mellitus ; glutamic acid ; carboxy-lyases ; C-peptide ; Diseases of the circulatory (Cardiovascular) system ; RC666-701 ; Specialties of internal medicine ; RC581-951 ; Internal medicine ; RC31-1245 ; Medicine ; R ; DOAJ:Cardiovascular ; DOAJ:Medicine (General) ; DOAJ:Health Sciences
    Language English
    Publishing date 2010-08-01T00:00:00Z
    Publisher Sociedade Brasileira de Cardiologia - SBC
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  3. Article ; Online: Diabetes mellitus classification.

    Maraschin, Jorge de Faria / Murussi, Nádia / Witter, Vanessa / Silveiro, Sandra Pinho

    Arquivos brasileiros de cardiologia

    2010  Volume 95, Issue 2, Page(s) e40–6

    Abstract: The right classification for diabetes mellitus (DM) allows a more adequate treatment and comprises four categories: type 1 DM, type 2 DM, other types, and gestational diabetes. In some cases, there might be a superposition of situations, especially with ... ...

    Abstract The right classification for diabetes mellitus (DM) allows a more adequate treatment and comprises four categories: type 1 DM, type 2 DM, other types, and gestational diabetes. In some cases, there might be a superposition of situations, especially with regard to the DM that initiates in the young adult or is initially presented with diabetic ketoacidosis intermediately to type 1 and 2 DM. Thus, additions to the classic classification system have been proposed as assessing the presence of autoimmunity (antibody) and b cell function (C-peptide) to precisely define the subtypes. The aim of this literature review was to analyze these diagnostic indexes` performance in the DM classification and to describe subtypes with details. The antibodies against pancreas confirm autoimmunity, and the antibody against insulin is more accurate before 5 years old, while the anti-glutamic acid decarboxylase is more accurate after 20 years old, a test which remains positive for a longer period. The measurement of C-peptide evaluates the pancreatic insulin reserve, and the most largely used methods of stimulation are the measurement after meals or after intravenous glucagon. C-peptide values < 1.5 ng/ml define a patient with absent pancreatic function and, above this value, patients with preserved function. When the presence of antibodies (A+) directed to the pancreas is combined to its insulin secretion capability (β+), it is possible to subdivide DM`s classification in type 1A (A+β-) and 1B (A+β-); and type 2A (A+β+) and 2B (A-β+), which allows a more precise classification and treatment besides opening horizons for the understanding of DM pathogenesis.
    MeSH term(s) Autoantibodies ; Autoimmunity/immunology ; C-Peptide/blood ; Diabetes Mellitus/classification ; Glutamate Decarboxylase/immunology ; Humans
    Chemical Substances Autoantibodies ; C-Peptide ; Glutamate Decarboxylase (EC 4.1.1.15)
    Language Portuguese
    Publishing date 2010-09-24
    Publishing country Brazil
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 730261-7
    ISSN 1678-4170 ; 0066-782X
    ISSN (online) 1678-4170
    ISSN 0066-782X
    DOI 10.1590/s0066-782x2010001200025
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: HNF1α mutations are present in half of clinically defined MODY patients in South-Brazilian individuals Mutações HNF1α estão presentes na metade dos pacientes da região sul do Brasil clinicamente diagnosticados com MODY

    Jorge de Faria Maraschin / Caroline Kannengiesser / Nádia Murussi / Nicole Campagnolo / Luís Henrique Canani / Jorge Luiz Gross / Gilberto Velho / Bernard Grandchamp / Sandra Pinho Silveiro

    Arquivos brasileiros de Endocrinologia e Metabologia, Vol 52, Iss 8, Pp 1326-

    2008  Volume 1331

    Abstract: ... of the young (MODY) é uma forma monogênica de diabetes melito caracterizada por herança autossômica dominante ... de instalação precoce, como disfunção da célula beta pancreática. Mutações heterozigotas em pelo ... GCK (glucokinase) e HNF1α (hepatocyte nuclear factor 1α), as causas mais freqüentes de MODY, em 13 ...

    Abstract Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes mellitus characterized by autosomal dominant inheritance, early age of onset, and pancreatic beta cell dysfunction. Heterozygous mutations in at least seven genes can cause MODY. In the present study we investigated the relative prevalence of GCK (glucokinase) and HNF1α (hepatocyte nuclear factor 1α) mutations, the more frequent causes of MODY, in 13 South-Brazilian families with multiple cases of diabetes consistent with MODY. Heterozygous variants in GCK and HNF1α genes were observed respectively in one (7.7%), and six (46.2%) families. The six HNF1α variants are likely to cause diabetes in the families where they were observed. However, we could not ascertain whether the GCK Gly117Ser variant found in one family is a causal mutation. In conclusion, we have confirmed in a South-Brazilian population that HNF1α mutations are a common cause of monogenic diabetes in adults selected with strict clinical diagnostic criteria. O maturity-onset diabetes of the young (MODY) é uma forma monogênica de diabetes melito caracterizada por herança autossômica dominante, de instalação precoce, como disfunção da célula beta pancreática. Mutações heterozigotas em pelo menos sete genes causam MODY. No presente estudo, investigamos a prevalência relativa das mutações da GCK (glucokinase) e HNF1α (hepatocyte nuclear factor 1α), as causas mais freqüentes de MODY, em 13 famílias sul-brasileiras com múltiplos casos de diabetes consistentes com MODY. Variantes heterozigotas nos genes da GCK e HNF1α foram observadas, respectivamente, em uma (7,7%) e em seis (46,2%) famílias. As seis variantes do HNF1α provavelmente causaram o diabetes nas famílias nas quais foram observadas. No entanto, não se pode afirmar que a variante GCK Gly117Ser encontrada em uma família seja a mutação causal. Em conclusão, confirmamos que, em uma população do sul do Brasil, as mutações HNF1α são uma causa comum de diabetes monogênico em adultos selecionados com critérios clínicos diagnósticos estritos.
    Keywords Maturity-onset diabetes of the young ; Diabetes monogênico ; Glucoquinase ; Monogenic diabetes ; Transcription factor ; Glucokinase ; Hepatocyte Nuclear Factor 1α ; Fator de transcrição ; Diseases of the endocrine glands. Clinical endocrinology ; RC648-665 ; Specialties of internal medicine ; RC581-951 ; Internal medicine ; RC31-1245 ; Medicine ; R ; DOAJ:Internal medicine ; DOAJ:Medicine (General) ; DOAJ:Health Sciences
    Language Portuguese
    Publishing date 2008-11-01T00:00:00Z
    Publisher Sociedade Brasileira de Endocrinologia e Metabologia
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  5. Article ; Online: Influence of age at diagnosis and duration of diabetes on the positivity of glutamic acid decarboxylase antibody in South-Brazilian type 1 diabetes mellitus.

    Maraschin, Jorge de Faria / Weinert, Letícia Schwerz / Murussi, Nádia / Witter, Vanessa / Rodrigues, Ticiana da Costa / Rossato, Egna Regina / Silveiro, Sandra Pinho

    Annals of clinical biochemistry

    2013  Volume 50, Issue Pt 3, Page(s) 262–266

    Abstract: Aim: To evaluate the influence of age of onset and duration of diabetes on the positivity of glutamic acid decarboxylase antibody (GADA) in South-Brazilian type 1 diabetes mellitus (DM) patients.: Methods: GADA was evaluated in 92 patients with type ... ...

    Abstract Aim: To evaluate the influence of age of onset and duration of diabetes on the positivity of glutamic acid decarboxylase antibody (GADA) in South-Brazilian type 1 diabetes mellitus (DM) patients.
    Methods: GADA was evaluated in 92 patients with type 1 diabetes, in 147 gestational DM patients, and in 59 subjects with normal glucose tolerance.
    Results: Type 1 patients with positive GADA (N = 44, 48%) were older at the onset of diabetes (22 ± 9 versus 18 ± 10 y, P = 0.043) and had a shorter DM duration (12 ± 8 versus 19 ± 9 y, P < 0.001), as compared with negative GADA patients. A logistic regression with antibody positivity as the dependent variable and diabetes duration as the independent variable, showed that the shorter diabetes duration was related to the presence of the antibody with an odds ratio (OR) = 5.6; (CI 95% = 2.1-14.6); P < 0.001. Another model, with age at diagnosis as the independent variable, did not show any association with antibody positivity. However, analysing only men, a shorter DM duration (OR = 6.5; CI = 1.7-24.0; P = 0.006), and also a higher age at diagnosis (OR = 5.5; CI = 1.5-21.0; P = 0.01) were significantly related to the antibody positivity. The performance of GADA was similar in up to 15 y of duration of DM (P = 0.78), but significantly diminished with higher duration (P = 0.001).
    Conclusion: GADA testing is a helpful tool in the diagnosis of type 1 DM starting in young adults and older individuals. Even though the positivity rate declines along the course of disease, it still provides useful information up to 15 y after the diabetes diagnosis.
    MeSH term(s) Adult ; Age Factors ; Age of Onset ; Autoantibodies/blood ; Brazil ; Cross-Sectional Studies ; Diabetes Mellitus, Type 1/diagnosis ; Diabetes Mellitus, Type 1/immunology ; Diabetes, Gestational/diagnosis ; Diabetes, Gestational/immunology ; Female ; Glucose Tolerance Test ; Glutamate Decarboxylase/immunology ; Humans ; Logistic Models ; Male ; Middle Aged ; Pregnancy ; Young Adult
    Chemical Substances Autoantibodies ; Glutamate Decarboxylase (EC 4.1.1.15)
    Language English
    Publishing date 2013-05
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 390309-6
    ISSN 1758-1001 ; 0004-5632
    ISSN (online) 1758-1001
    ISSN 0004-5632
    DOI 10.1177/0004563212474560
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: HNF1alpha mutations are present in half of clinically defined MODY patients in South-Brazilian individuals.

    Maraschin, Jorge de Faria / Kannengiesser, Caroline / Murussi, Nádia / Campagnolo, Nicole / Canani, Luís Henrique / Gross, Jorge Luiz / Velho, Gilberto / Grandchamp, Bernard / Silveiro, Sandra Pinho

    Arquivos brasileiros de endocrinologia e metabologia

    2008  Volume 52, Issue 8, Page(s) 1326–1331

    Abstract: Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes mellitus characterized by autosomal dominant inheritance, early age of onset, and pancreatic beta cell dysfunction. Heterozygous mutations in at least seven genes can cause MODY. ...

    Abstract Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes mellitus characterized by autosomal dominant inheritance, early age of onset, and pancreatic beta cell dysfunction. Heterozygous mutations in at least seven genes can cause MODY. In the present study we investigated the relative prevalence of GCK (glucokinase) and HNF1alpha (hepatocyte nuclear factor 1alpha) mutations, the more frequent causes of MODY, in 13 South-Brazilian families with multiple cases of diabetes consistent with MODY. Heterozygous variants in GCK and HNF1alpha genes were observed respectively in one (7.7%), and six (46.2%) families. The six HNF1alpha variants are likely to cause diabetes in the families where they were observed. However, we could not ascertain whether the GCK Gly117Ser variant found in one family is a causal mutation. In conclusion, we have confirmed in a South-Brazilian population that HNF1alpha mutations are a common cause of monogenic diabetes in adults selected with strict clinical diagnostic criteria.
    MeSH term(s) Adult ; Brazil ; Diabetes Mellitus, Type 2/genetics ; Female ; Glucokinase/genetics ; Hepatocyte Nuclear Factor 1-alpha/genetics ; Heterozygote ; Humans ; Male ; Mutation/genetics ; Pedigree ; Prevalence ; Young Adult
    Chemical Substances Hepatocyte Nuclear Factor 1-alpha ; Glucokinase (EC 2.7.1.2)
    Language English
    Publishing date 2008-12-18
    Publishing country Brazil
    Document type Case Reports ; Journal Article
    ZDB-ID 603919-4
    ISSN 1677-9487 ; 0004-2730
    ISSN (online) 1677-9487
    ISSN 0004-2730
    DOI 10.1590/s0004-27302008000800020
    Database MEDical Literature Analysis and Retrieval System OnLINE

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