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PURPOSE: Graves' ophthalmopathy (GO) is the most common extra-thyroid manifestation of Graves' disease (GD). The Clinical Activity Score (CAS) has been widely used to evaluate GO inflammation severity and response to treatment; however, it is quite subjective. Infrared thermography (IRT) is a portable and low-cost device to evaluate local temperature and assess inflammation. The aim was to evaluate ocular temperature by IRT as an instrument for measuring inflammatory activity in GO and its correlation with CAS. METHODS: This is a cross-sectional study involving 136 consecutive GD patients (12 with CAS ≥ 3/7, 62 with CAS < 3 and 62 without apparent GO) with 62 healthy controls. Patients with active ophthalmopathy were prospectively evaluated. Exophthalmometry, CAS, and thermal images from caruncles and upper eyelids were acquired from all subjects. RESULTS: All eye areas of thermal evaluation had higher temperatures in GD patients with active ophthalmopathy (caruncles, p<0.0001; upper eyelids, p<0.0001), and it was positively correlated with CAS (r=0.60 and p<0.0001 at caruncles; r=0.58 and p<0.0001 at upper eyelids). No difference in temperature was found between other groups. Patients with active ophthalmopathy were prospectively evaluated after 6 or 12 months of the treatment and a significant difference was found in ophthalmometry (p=0.0188), CAS (p=0.0205), temperature of caruncles (p=0.0120), and upper eyelids (p=0.0066). CONCLUSIONS: IRT was an objective and simple tool for evaluation and follow-up of inflammation in GO, allowed evidencing patients with significant inflammatory activity, and had a good correlation with the CAS score.

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Abstract Objective: To elucidate whether insulin is effective or not in patients with cystic fibrosis before the diabetes mellitus phase. Data source: The study was performed according to the Prisma method between August and September 2014, using the PubMed, Embase, Lilacs and SciELO databases. Prospective studies published in English, Portuguese and Spanish from 2002 to 2014, evaluating the effect of insulin on weight parameters, body mass index and pulmonary function in patients with cystic fibrosis, with a mean age of 17.37 years before the diabetes mellitus phase were included. Data synthesis: Eight articles were identified that included 180 patients undergoing insulin use. Sample size ranged from 4 to 54 patients, with a mean age ranging from 12.4 to 28 years. The type of follow-up, time of insulin use, the dose and implementation schedule were very heterogeneous between studies. Conclusions: There are theoretical reasons to believe that insulin has a beneficial effect in the studied population. The different methods and populations assessed in the studies do not allow us to state whether early insulin therapy should or should not be carried out in patients with cystic fibrosis prior to the diagnosis of diabetes. Therefore, studies with larger samples and insulin use standardization are required.

Resumo Objetivo: Elucidar se a insulina é eficaz ou não em pacientes com fibrose cística antes da fase de diabetes. Fontes de dados: O estudo foi feito de acordo com o método Prisma entre agosto e setembro de 2014, nas bases de dados PubMed, Embase, Lilacs e SciELO. Foram incluídos estudos prospectivos publicados em inglês, português e espanhol de 2002 a 2014 que avaliaram o efeito da insulina nos parâmetros peso, índice de massa corporal e função pulmonar, em pacientes com fibrose cística, com média de 17,37 anos, antes da fase de diabetes. Síntese dos dados: Foram identificados oito artigos que incluíram 180 indivíduos submetidos ao uso de insulina. O tamanho das amostras variou de 4 a 54 pacientes, idade média entre 12,4 e 28 anos. O tipo de acompanhamento, o tempo de uso de insulina, a dose e o cronograma de implementação foram muito heterogêneos entre os estudos. Conclusões: Existem razões teóricas para se acreditar que a insulina tenha um efeito benéfico na população estudada. Os diferentes métodos e populações encontrados não permitem afirmar se a terapia precoce com insulina deve ou não ser feita em pacientes com fibrose cística previamente ao diagnóstico de diabetes. Portanto, são necessários estudos com amostras maiores e uniformidade de uso da insulina.

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OBJECTIVE: To elucidate whether insulin is effective or not in patients with cystic fibrosis before the diabetes mellitus phase. DATA SOURCE: The study was performed according to the Prisma method between August and September 2014, using the PubMed, Embase, Lilacs and SciELO databases. Prospective studies published in English, Portuguese and Spanish from 2002 to 2014, evaluating the effect of insulin on weight parameters, body mass index and pulmonary function in patients with cystic fibrosis, with a mean age of 17.37 years before the diabetes mellitus phase were included. DATA SYNTHESIS: Eight articles were identified that included 180 patients undergoing insulin use. Sample size ranged from 4 to 54 patients, with a mean age ranging from 12.4 to 28 years. The type of follow-up, time of insulin use, the dose and implementation schedule were very heterogeneous between studies. CONCLUSIONS: There are theoretical reasons to believe that insulin has a beneficial effect in the studied population. The different methods and populations assessed in the studies do not allow us to state whether early insulin therapy should or should not be carried out in patients with cystic fibrosis prior to the diagnosis of diabetes. Therefore, studies with larger samples and insulin use standardization are required.

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BACKGROUND: Permanent neonatal diabetes mellitus (PNDM) is a rare disorder, characterized by uncontrolled hyperglycemia diagnosed during the first 6 months of life. In general, PNDM has a genetic origin and most frequently it results from heterozygous mutations in KCNJ11, INS and ABCC8 genes. Homozygous or compound heterozygous inactivating mutations in GCK gene as cause of PNDM are rare. In contrast, heterozygosis for GCK inactivating mutations is frequent and results in the maturity-onset diabetes of young (MODY), manifested by a mild fasting hyperglycemia usually detected later in life. Therefore, as an autosomal recessive disorder, GCK-PNDM should be considered in families with history of glucose intolerance or MODY in first relatives, especially when consanguinity is suspected. RESULTS: Here we describe two patients born from non-consanguineous parents within a family. They presented low birth weight with persistent hyperglycemia during the first month of life. Molecular analyses for KCNJ11, INS, ABCC8 did not show any mutation. GCK gene sequencing, however, revealed that both patients were compound heterozygous for two missense combined in a novel GCK-PNDM genotype. The p.Asn254His and p.Arg447Gly mutations had been inherited from their mothers and fathers, respectively, as their mothers are sisters and their fathers are brothers. Parents had been later diagnosed as having GCK-MODY. CONCLUSIONS: Mutations' in silico analysis was carried out to elucidate the role of the amino acid changes on the enzyme structure. Both p.Asn254His and p.Arg447Gly mutations appeared to be quite damaging. This is the first report of GCK-PNDM in a Brazilian family.

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Publicação em sua quarta edição revisada e adaptada de 2005 com o objetivo de ajudar diabéticos em situações de emergência. Apresenta diversas situações, como: regras básicas do tratamento, ferimentos nos pés, evinto hipoglicemia, mudanças de horários, prática de exercícios físicos, consumo de outros medicamentos, esquecimento de medicação, informações sobre insulina e viagens. No apêndice traz questões sobre o controle de diabetes e significado de termos médicos. Documento com 56 páginas, em pdf; requer Acrobat Reader.

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Both Continuous Subcutaneous Insulin Infusion (CSII) and Multiple Daily Injections (MDI) are effective ways of implementing intensive management of DM1 to attain near normal glycemic levels and a more flexible lifestyle. CSII is as safe as MDI and has some advantages over it mostly in diabetic patients with frequent hypoglycemias with important dawn phenomenum, gastroparesia, during pregnancy, in children and in patients with an erratic way of living. CSII allows a better chance to reach better glycemic control with less hypoglycemia, asymptomatic hypoglycemias and a better quality of life. Besides, risks are lower and adverse events are less frequent in DM1 patients under CSII as compared to MDI. To obtain results like this, a careful adjustment of basal and boluses insulin doses and an adequate patient follow-up are essential.

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Tanto a bomba de infusão de insulina quanto a terapêutica de múltiplas doses de insulina (MDI) são meios efetivos de implementar o manejo intensivo do diabetes melito tipo 1 (DM1), com o objetivo de chegar a níveis glicêmicos quase normais e obter-se um estilo de vida mais flexível. A terapia com bomba de infusão de insulina é tão segura quanto a MDI e tem vantagens sobre ela, sobretudo em pacientes com hipoglicemias freqüentes, com um fenômeno do alvorecer importante, com gastroparesia, na gravidez, em crianças e em pacientes com DM1 e com um estilo de vida errático. A terapia com bomba de infusão de insulina possibilita maior probabilidade de se alcançar melhor controle glicêmico com menos hipoglicemia, hipoglicemias assintomáticas e melhor qualidade de vida. Além disso, os riscos e os efeitos adversos da terapêutica insulínica em pacientes com DM1 em insulinização intensiva são menores nos pacientes usando esta terapia, quando comparados a pacientes em MDI. Para tal, o ajuste cuidadoso das doses basais e de bólus e o seguimento adequado do paciente são vitais.

Both Continuous Subcutaneous Insulin Infusion (CSII) and Multiple Daily Injections (MDI) are effective ways of implementing intensive management of DM1 to attain near normal glycemic levels and a more flexible lifestyle. CSII is as safe as MDI and has some advantages over it mostly in diabetic patients with frequent hypoglycemias with important dawn phenomenum, gastroparesia, during pregnancy, in children and in patients with an erratic way of living. CSII allows a better chance to reach better glycemic control with less hypoglycemia, asymptomatic hypoglycemias and a better quality of life. Besides, risks are lower and adverse events are less frequent in DM1 patients under CSII as compared to MDI. To obtain results like this, a careful adjustment of basal and boluses insulin doses and an adequate patient follow-up are essential.

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OBJECTIVE: To evaluate the growth and body composition of pre-pubertal diabetic children, and to check for influence of the age of diabetes onset and length, sex, insulin requirement and glycosylated hemoglobin. PATIENTS AND METHODS: 59 diabetic children (39 M; 29 F), age 1.2-11.5 years, and 67 controls (36 M; 31 F), age 1.2-11.7 years were included. Weight, height, body mass index (BMI), arm circumference, skin folds, fat mass and muscle areas were evaluated and transformed into standard deviation scores (SDS). RESULTS: Among the diabetic children the mean height SDS was -0.13 (+/- 0.97) while in the control group it was 0.28 (+/- 0.86) (p= 0.013). The difference between the first and the current height SDS showed that the height SDS decreased significantly (p< 0.001) and multiple regression analysis indicated correlation with the duration of the disease. The mean arm fat SDS also revealed difference (p< 0.001). The means for weight, BMI, addition of 3 skinfolds and muscle mass did not demonstrate difference between the groups. CONCLUSIONS: The diabetic children showed reduction of height SDS during the period studied and they were significantly shorter than the controls, even though their statures were within the population standards. The arm fat area also showed an increase in relation with the controls.

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OBJETIVOS: Avaliar o crescimento e a composição corporal de diabéticos tipo 1, pré-púberes, em relação à idade de início e tempo da doença, sexo, dose de insulina e hemoglobina glicada média. PACIENTES E MÉTODOS: Foram incluídas no estudo 59 crianças diabéticas (30 M; 29 F), entre 1,2 e 11,5 anos, e 67 controles (36 M; 31 F), entre 1,2 e 11,7 anos. Peso, altura, IMC, perímetro braquial, pregas cutâneas e áreas de massa gorda e muscular braquial foram avaliados e transformados em escore z. RESULTADOS: Verificou-se que entre os diabéticos a média de escore z de altura foi -0,13 (± 0,97), enquanto no grupo controle foi de 0,28 (± 0,86) (p= 0,013). A diferença entre os escores de altura inicial e atual mostrou perda estatural (p< 0,001) e a análise multivariada demonstrou associação com tempo de doença. Também observou-se diferença na área de gordura braquial (p< 0,001). As médias de escore z de peso, IMC, soma de 3 dobras e área muscular braquial não diferiram entre os grupos. CONCLUSÕES: As crianças diabéticas apresentaram perda de estatura durante o período de acompanhamento e eram significativamente mais baixas que os controles, embora suas alturas ainda estivessem dentro dos padrões de normalidade. Também mostraram área de gordura braquial aumentada em relação aos controles.

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OBJETIVO: O diabetes mellitus tipo 1 (DM1) é a mais importante doença endócrino-metabólica crônica entre crianças e adolescentes, podendo ser causa de atraso do crescimento e da puberdade. Avaliamos a influência do DM1 no estirão de crescimento e na puberdade de indivíduos com doença iniciada antes ou no começo desta fase. CASUíSTICA E MÉTODOS: Foram avaliados retrospectivamente os prontuários de 40 pacientes (25 meninas), que apresentavam altura final, com coleta dos dados para o cálculo do tempo total de doença, os escores de DP da altura e do peso a cada consulta, a altura-alvo parental, as velocidades de crescimento (VC) anuais, o pico do estirão de crescimento, a duração da puberdade, o ganho total de crescimento durante o estirão puberal e a hemoglobina glicada (HbG). RESULTADOS: Em relação à adequação da altura final para a altura-alvo parental, 37 pacientes ficaram dentro da previsão e 3 ficaram abaixo do limite inferior. Não houve associação entre as variáveis analisadas com exceção da VC no pico do estirão, quando esta foi menor ou igual a 6cm/ano. A idade de início do DM1 e do pico do estirão puberal coincidiram com a faixa etária descrita na literatura; não foi observado atraso na idade de início da puberdade. No entanto, o ganho de altura durante a puberdade foi menor que o descrito na literatura, o mesmo ocorrendo em relação ao pico de VC puberal. De acordo com os valores da HbG, todos os pacientes avaliados apresentaram um controle crônico ruim do DM1. CONCLUSÕES: Neste grupo de DM1 com controle inadequado da doença, houve um prejuízo na altura final em relação à altura do início do DM1, provavelmente causado por uma baixa VC durante a puberdade, que, no entanto, não teve influência na altura final em relação ao alvo parental.

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OBJECTIVE: Type 1 diabetes mellitus (DM1), the most important chronic endocrine-metabolic disease in children and adolescents, may lead to delayed growth and puberty. In this study we analyzed the influence of DM1 on growth spurt and puberty of patients whose onset of the disease was before or at the beginning of this phase. PATIENTS AND METHODS: Data from 40 patients, 25 females, who had attained final height were retrospectively obtained, including duration of disease, patient's height and weight SDS at each consultation, parental target height, yearly growth velocities (GV), peak of growth spurt, duration of puberty, magnitude of growth spurt and glycated hemoglobin (HbA1C) levels. RESULTS: 37 patients had an adequate final height to parental target height, and only 3 were below the lower limit. There was no significant association among the variables and the appropriate final height to the target height, except for GV on growth spurt, when it was lower than or equal to 6 cm/year. The age of onset of DM1 and the age of peak of growth spurt was similar to previously data reported; regarding the age of the onset of puberty, there was no delay. However, the magnitude of the growth spurt and the peak of GV were lower. According to HbA1C levels, all patients exhibited a bad chronic control of DM1. CONCLUSIONS: In this group of inadequately controlled patients, the final height was lower than expected when compared to the height at onset of DM1, probably due to a slow GV during puberty, which however had no influence on the final height to parental target height.

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