Evaluation of sleep characteristics of children and adolescents with type 1 diabetes mellitus / Avaliação das características do sono em crianças e adolescentes portadores de diabetes melito tipo 1

ABSTRACT Objective: To evaluate sleep characteristics of children and adolescents with type 1 diabetes mellitus (T1DM) and their relationship with glycemic control. Methods: A cross-sectional study was conducted at a public hospital in São Paulo, Brazil. It included 86 patients with T1DM, aged between 10 and 18 years old, who were on insulin therapy, had performed at least three measurements of capillary blood glucose throughout the day, and had normal thyroid function. The clinical, anthropometric, and laboratory data of each patient were evaluated. The Pediatric Daytime Sleepiness Scale (PDSS) and the Munich Chronotype Questionnaire (MCTQ) were used to assess the sleep characteristics. Results: The mean level of glycated hemoglobin (HbA1c) was 9.2±2.1%, and it was higher in adolescents than in children. The mean score of PDSS was 13.9±4.7. Patients with HbA1c<7.5% had lower PDSS scores and longer sleep duration on weekdays than patients with HbA1c≥7.5%. HbA1c levels were negatively correlated with chronotype values and sleep duration on weekdays and positively correlated with social jet lag. Patients who had had T1DM for less than three years had a higher prevalence of daytime sleepiness. The regression analysis showed that higher HbA1c (≥7.5%) and shorter time since the diagnosis of T1DM increased the chance of daytime sleepiness, regardless of age and sex. Conclusions: Patients with higher HbA1c had more daytime sleepiness, a morning chronotype, shorter sleep duration on weekdays and a more significant social jet lag. The shorter diagnosis time for T1DM and greater levels of HbA1c increased the chance of daytime sleepiness.

RESUMO Objetivo: Avaliar as características do sono em crianças e adolescentes portadores de diabetes melito tipo 1 (DM1) e sua relação com o controle glicêmico. Métodos: Estudo transversal realizado em um hospital público de São Paulo. A amostra foi composta de 86 portadores de DM1 entre 10 e 18 anos, aderentes à insulinoterapia, com monitoração mínima de três glicemias capilares ao dia e função tireoidiana normal. Foram avaliados os dados clínicos, antropométricos e laboratoriais de cada paciente. Utilizaram-se a Escala de Sonolência Diurna Pediátrica (ESDP) e o Questionário de Cronotipo de Munique (QCTM). Resultados: A média de hemoglobina glicada (HbA1c) foi 9,2±2,1%, sendo maior em adolescentes. A média do escore da ESDP foi 13,9±4,7. Pacientes com HbA1c<7,5% tiveram menor escore na ESDP e maior duração do sono em dias de semana do que pacientes com HbA1c≥7,5%. Verificaram-se correlações negativas da HbA1c com valores do cronotipo e com duração do sono em dias de semana e correlação positiva da HbA1c com jet lag social. Pacientes com tempo de DM1 menor que três anos tiveram maior prevalência de sonolência diurna. A análise de regressão apontou que, quanto maior a HbA1c e menor o tempo de diagnóstico de DM1, maior a chance de sonolência diurna, independentemente de idade e sexo. Conclusões: Pacientes com HbA1c mais elevada apresentaram mais sonolência diurna, cronotipo matutino, menor duração do sono em dias de semana e maior jet lag social. O menor tempo de diagnóstico de DM1 e HbA1c≥7,5% aumentaram a chance de maior sonolência diurna.

Characteristics of type 1 diabetes mellitus in children and adolescents with Down's syndrome in an admixed population

ABSTRACT Objective: People with Down's syndrome (DS) have a higher risk of developing type 1 diabetes mellitus (T1D) and may have specific clinical features compared to T1D patients without DS. This study evaluated the clinical and laboratory aspects of T1D in children and adolescents with DS in an admixed population. Subjects and methods: A case-control study comparing patients with T1D and DS (T1D+DS) to patients with T1D without DS (T1D controls) from two tertiary academic Hospitals in São Paulo, Brazil. Results: The sample consisted of 9 patients with T1D+DS and 18 T1D age and sex-matched controls. Anti-glutamic acid decarboxylase 65 antibodies were positive in 7/7 of the 9 T1D+DS patients, confirming the presence of diabetes autoimmunity in this group. Mean age at diagnosis of T1D was 4.9 ± 3.9 years in the T1D+DS group and 6.4 years ± 3 in the T1D control group; early diagnosis (<2 years old) occurred in three T1D+DS patients but only in one T1D control patients, both suggesting lower age of diagnosis in T1D+DS group, although without statistical significance (p = 0.282 and p = 0.093, respectively). The T1D+DS group presented lower total insulin dose (0.7 IU/kg/day ± 0.2) and HbA1c (7.2% ± 0.6) than the control group (1.0 IU/kg/day ± 0.3 and 9.1% ± 0.7, respectively) (p = 0.022 and p = 0.047, respectively). Conclusion: We confirmed the autoimmune etiology of diabetes in people with DS in this admixed population. T1D+DS patients developed diabetes earlier and achieved better metabolic control with a lower insulin dose than T1D controls. These findings are in agreement with previous studies in Caucasian populations.

ERS International Congress, Madrid, 2019: highlights from the Interstitial Lung Diseases Assembly.

This article discusses a selection of the scientific presentations in the field of interstitial lung diseases (ILDs) that took place at the 2019 European Respiratory Society International Congress in Madrid, Spain. There were sessions from all four groups within Assembly 12: group 12.01 "Idiopathic interstitial pneumonias", group 12.02 "ILDs/diffuse parenchymal lung diseases (DPLDs) of known origin", group 12.03 "Sarcoidosis and other granulomatous ILDs/DPLDs" and group 12.04 "Rare ILDs/DPLDs". The presented studies brought cutting-edge developments on several aspects of these conditions, including pathogenesis, diagnosis and treatment. As many of the ILDs are individually rare, the sharing of experiences and new data that occur during the Congress are very important for physicians interested in ILDs and ILD patients alike.

Chylous ascites: Case report of a rare presentation of blunt abdominal trauma.

INTRODUCTION: Chylous ascites is the accumulation of a milk-like peritoneal fluid rich in triglycerides, due to the presence of intestinal lymph in the abdominal cavity. The most common causes of chylous acites in adults are abdominal malignancy and cirrhosis. Very few cases of chylous ascites associated to blunt abdominal trauma have been published in the literature. CLINICAL CASE: A 27-year-old, female patient was admitted to the emergency department (ED) with abdominal pain due to a deceleration-type traffic accident. During surveillance the patient presented a progressive decrease in hemoglobin levels and an increase in free intra-abdominal fluid detected on computed tomography scan. The patient underwent an exploratory laparoscopy and a milky-looking peritoneal fluid was identified. The diagnosis of chylous ascites was confirmed by the determination of increased triglyceride levels in the peritoneal fluid. A low-fat diet, with a restriction of long-chain triglycerides, was started in the post-operative period and the patient presented a progressive decrease in abdominal drainage. The patient had a favorable clinical and analytical evolution and was discharged on the fifth post-operative day. DISCUSSION: Chylous ascites is an uncommon finding in trauma. Although surgery may be indicated in selected patients, conservative treatment can be effective in most patients, with or without abdominal drainage. A high-protein and low-fat diet, with medium-chain triglycerides, is the indicated dietary regimen to decrease the amount of lymphatic fluid produced. CONCLUSION: Chylous ascites, although rare in trauma patients must be considered in the diferential diagnosis of free peritoneal fluid. Conservative treatment should be considered in the majority of cases reserving invasive treatments for specific situations.

Behavioral Tracking and Neuromast Imaging of Mexican Cavefish.

Cave-dwelling animals have evolved a series of morphological and behavioral traits to adapt to their perpetually dark and food-sparse environments. Among these traits, foraging behavior is one of the useful windows into functional advantages of behavioral trait evolution. Presented herein are updated methods for analyzing vibration attraction behavior (VAB: an adaptive foraging behavior) and imaging of associated mechanosensors of cave-adapted tetra, Astyanax mexicanus. In addition, methods are presented for high-throughput tracking of a series of additional cavefish behaviors including hyperactivity and sleep-loss. Cavefish also show asociality, repetitive behavior and higher anxiety. Therefore, cavefish serve as an animal model for evolved behaviors. These methods use free-software and custom-made scripts that can be applied to other types of behavior. These methods provide practical and cost-effective alternatives to commercially available tracking software.

Evolution of the developmental plasticity and a coupling between left mechanosensory neuromasts and an adaptive foraging behavior.

Many animal species exhibit laterality in sensation and behavioral responses, namely, the preference for using either the left or right side of the sensory system. For example, some fish use their left eye when observing social stimuli, whereas they use their right eye to observe novel objects. However, it is largely unknown whether such laterality in sensory-behavior coupling evolves during rapid adaptation processes. Here, in the Mexican tetra, Astyanax mexicanus, we investigate the laterality in the relationship between an evolved adaptive behavior, vibration attraction behavior (VAB), and its main sensors, mechanosensory neuromasts. A. mexicanus has a surface-dwelling form and cave-dwelling forms (cavefish), whereby a surface fish ancestor colonized the new environment of a cave, eventually evolving cave-type morphologies such as increased numbers of neuromasts at the cranium. These neuromasts are known to regulate VAB, and it is known that, in teleosts, the budding (increasing) process of neuromasts is accompanied with dermal bone formation. This bone formation is largely regulated by endothelin signaling. To assess the evolutionary relationship between bone formation, neuromast budding, and VAB, we treated 1-3 month old juvenile fish with endothelin receptor antagonists. This treatment significantly increased cranial neuromasts in both surface and cavefish, and the effect was significantly more pronounced in cavefish. Antagonist treatment also increased the size of dermal bones in cavefish, but neuromast enhancement was observed earlier than dermal bone formation, suggesting that endothelin signaling may independently regulate neuromast development and bone formation. In addition, although we did not detect a major change in VAB level under this antagonist treatment, cavefish did show a positive correlation of VAB with the number of neuromasts on their left side but not their right. This laterality in correlation was observed when VAB emerged during cavefish development, but it was not seen in surface fish under any conditions tested, suggesting this laterality emerged through an evolutionary process. Above all, cavefish showed higher developmental plasticity in neuromast number and bone formation, and they showed an asymmetric correlation between the number of left-right neuromasts and VAB.

Adequacy of energy and macronutrient intake of food supplements for athletes / Suplementos alimentares na adequação do consumo energético e de macronutrientes em atletas

ABSTRACT Objective To assess how much food supplements contribute to the nutritional adequacy of energy and macronutrients in relation those recommended for athletes. Methods This was a cross sectional study was composed of 182 athletes from 19 sports (150 men and 32 women) with a mean age, weight, height and body mass index of 23.8±7.5 years, 73.7±15.6kg, 1.7±0.1m, 24.2±4.0kg/m², respectively. The 24 hours dietary recall was applied to assess intake and the Multiple Source Method to evaluate usual intake. We used the t-test, Mann-Whitney test, Analysis of Variance and Kruskal-Wallis for comparative analysis among the diets, gender and types of groups, and the comparison of two-proportion test to assess the diets Food and Food and Supplementation. Results Of the athletes studied, less than half used dietary supplements (39.0%). Energy intake was below the recommended (52.7%) in Food diet, and 45.6% in Food and Supplementation diet. The mean total of carbohydrate inadequacy (g.kg-1.day-1) was high for athletes of both genders and between Food and Food and Supplementation diets. The protein intake was above the recommended levels in Food diet (23.1%) and in Food and Supplementation diet (33.5%). The lipid intake was also above the recommended dietary levels in Food (47.3%) and in Food and Supplementation diets (50.0%). Conclusion The use of supplements did not significantly reduce inadequacies of diet and the athletes' intake of calories and carbohydrates was below the recommended for these groups. However, the protein intake was above the recommended levels for athletes.

RESUMO Objetivo Avaliar a contribuição dos suplementos alimentares para a adequação nutricional de energia e macronutrientes em relação às recomendações propostas para atletas. Métodos Estudo transversal, composto por 182 atletas de 19 modalidades esportivas (150 homens e 32 mulheres), com média de idade, peso, altura e índice de massa corporal de 23,8±7,5 anos, 73,7±15,6kg, 1,7±0,1m, 24,2±4,0kg/m², respectivamente. Foi aplicado recordatório de 24 horas para avaliação do consumo e o Multiple Source Method para avaliação do consumo usual. Foram usados: teste-t, Mann-Whitney, Analises de Variância e Kruskal-Wallis para análise de comparação entre as dietas, por gênero e grupos de modalidades, e teste de comparação entre duas proporções para avaliar as dietas Alimentos e Alimentos e Suplementos. Resultados Menos da metade fazia uso de suplementos alimentares (39,0%). O consumo energético esteve abaixo do recomendado em 52,7% na dieta Alimentos, e 45,6% na dieta Alimentos e Suplementos. A inadequação de carboidrato (g.kg-1.dia-1) foi alta na média total de atletas, para gêneros e entre modalidades nas dietas Alimentos e Alimentos e Suplementos. O consumo proteico esteve acima do recomendado em 23,1% na dieta Alimentos e 33,5% na dieta Alimentos e Suplementos. Já para lipídeos a ingestão esteve acima do recomendado 47,3% na dieta Alimentos e 50,0% na dieta Alimentos e Suplementos. Conclusão O uso de suplementos não auxiliou na diminuição das inadequações de forma expressiva, permanecendo os atletas abaixo das recomendações preconizadas para calorias e glicídios, porém aumentou a quantidade de atletas acima da recomendação de proteína.

Gene design, fusion technology and TEV cleavage conditions influence the purification of oxidized disulphide-rich venom peptides in Escherichia coli.

BACKGROUND: Animal venoms are large, complex libraries of bioactive, disulphide-rich peptides. These peptides, and their novel biological activities, are of increasing pharmacological and therapeutic importance. However, recombinant expression of venom peptides in Escherichia coli remains difficult due to the significant number of cysteine residues requiring effective post-translational processing. There is also an urgent need to develop high-throughput recombinant protocols applicable to the production of reticulated peptides to enable efficient screening of their drug potential. Here, a comprehensive study was developed to investigate how synthetic gene design, choice of fusion tag, compartment of expression, tag removal conditions and protease recognition site affect levels of solubility of oxidized venom peptides produced in E. coli. RESULTS: The data revealed that expression of venom peptides imposes significant pressure on cysteine codon selection. DsbC was the best fusion tag for venom peptide expression, in particular when the fusion was directed to the bacterial periplasm. While the redox activity of DsbC was not essential to maximize expression of recombinant fusion proteins, redox activity did lead to higher levels of correctly folded target peptides. With the exception of proline, the canonical TEV protease recognition site tolerated all other residues at its C-terminus, confirming that no non-native residues, which might affect activity, need to be incorporated at the N-terminus of recombinant peptides for tag removal. CONCLUSIONS: This study reveals that E. coli is a convenient heterologous host for the expression of soluble and functional venom peptides. Using the optimal construct design, a large and diverse range of animal venom peptides were produced in the µM scale. These results open up new possibilities for the high-throughput production of recombinant disulphide-rich peptides in E. coli.

Hiperplasia adrenal congênita: estudo qualitativo sobre doença e tratamento, dúvidas, angústias e relacionamentos (parte I) / Congenital adrenal hyperplasia: a qualitative study on disease and treatment, doubts, anguishes and relationships (part I)

OBJETIVO: Compreender significados e pensamentos de um grupo de pais, pacientes e médicos sobre a hiperplasia adrenal congênita (HAC) e analisar angústias, dúvidas e ansiedades. MÉTODOS: Foram selecionados 21 sujeitos: 7 especialistas de cinco instituições do Sistema Único de Saúde (SUS), 9 familiares e 6 pacientes com HAC, seguindo padrões da pesquisa qualitativa. Neste artigo, apresentaram-se três categorias: "doença e tratamento", "dúvidas e angústias" e "relacionamentos." RESULTADOS: As principais angústias dos pais relacionam-se à indefinição sexual ao nascimento. Para pacientes, a angústia maior relaciona-se ao sentimento de solidão ao lidar com a doença e seu tratamento, enquanto médicos mostram-se inconformados com a passividade dos pais/pacientes. CONCLUSÕES: A passividade de pacientes/familiares nas consultas deve ser avaliada com cautela, pois a dinâmica do ambulatório dos hospitais-escola tem efeito neste comportamento: os médicos não conversam abertamente com os pais, enquanto estes não conversam com seus filhos, que, por sua vez, poupam os pais de mais sofrimento. Constatou-se dificuldade de comunicação entre esses vários sujeitos. Essas observações permitem sugerir que uma medida especial de atenção a esses pacientes deva ser construída.

OBJECTIVE: To understand the meanings/thoughts of a group of parents, patients and physicians regarding congenital adrenal hyperplasia (CAH), and to evaluate their anguishes, doubts and anxieties. METHODS: We selected 21 subjects: 7 pediatric endocrinologists from five Brazilian Public Health System institutions, 9 parents and 6 patients with CAH, according to the qualitative research model. Three of the studied categories are presented: "disease and treatment", "doubts and anguishes" and "relationships." RESULTS: Parents' main anguishes relate to the situation of an unnamed sex at birth. A sense of loneliness when dealing with the disease is the major anguish among patients, whereas physicians show hopelessness with the passivity parents and patients. CONCLUSIONS: The apparent submissiveness of patients/parents during consultations must be evaluated cautiously. University Hospitals outpatient clinic dynamics have a direct effect on this behavior: physicians do not talk openly with parents who in turn do not talk with their children, whereas patients chose to protect their parents from additional suffering. Thus, some miscommunication is noticeable among these subjects. These observations suggest that a special mindful measure should be built for these patients.

Hiperplasia adrenal congênita: estudo qualitativo sobre definição e redefinição sexual, cirurgia de dilatação e apoio psicológico (parte II) / Congenital adrenal hyperplasia: a qualitative study on sex definition and redesignation dilation surgery and psychological support (part II)

OBJETIVO: Identificar questões relacionadas à definição e redesignação sexual e à cirurgia corretiva em pacientes com hiperplasia adrenal congênita (HAC) e compreender a inserção do psicólogo no seu atendimento. MÉTODOS: Selecionaram-se 21 sujeitos: 7 especialistas de cinco instituições do Sistema Único de Saúde (SUS), 9 familiares e 6 pacientes com HAC, seguindo-se padrões da pesquisa qualitativa. Neste artigo, analisaram-se três das categorias estudadas: "definição e redesignação sexual", "cirurgia e dilatação" e "psicologia". RESULTADOS: A situação de indefinição sexual é a que mais angustia os pais, enquanto a redesignação inquieta mais os médicos. A sensação de isolamento para lidar com a doença e tratamento foi comum nas pacientes; os procedimentos de dilatação foram sua principal queixa. Os médicos acham que a cirurgia deve ser feita com brevidade para evitar traumas posteriores. CONCLUSÕES: Diante de questões psicológicas complexas, chama a atenção o fato de que nem todo serviço de atendimento especializado conta com a presença de um psicólogo. Os exames de dilatação causam traumas nas pacientes. No grupo estudado, constataram-se dificuldades para lidar com as questões relacionadas à sexualidade.

OBJECTIVE: To identify relevant questions related to sex definition and re-designation and reconstructive surgery in patients with congenital adrenal hyperplasia (CAH), and to understand the role of the psychologist in providing care for these patients. METHODS: We selected 21 subjects: 7 pediatric endocrinologists from 5 Brazilian Public Health System institutions, 9 parents and 6 patients with CAH, according to a qualitative research model. In this paper, 3 of the studied categories are analyzed: "sex definition and re-designation", "reconstructive surgery/vaginal dilation", and "psychology". RESULTS: Parents' main anguish relates to the situation of an unnamed sex at birth, whereas sex re-designation was distressful to physicians. A sense of loneliness when dealing with the disease and treatment was a common anguish among patients; dilation procedures were the major complaint. In general, physicians recommend that genital reconstructive surgery be performed early on to avoid future trauma. CONCLUSIONS: In such a complex scenario, it is remarkable that not all the reference service staff have a psychologist on duty. Difficulties to deal with questions involving sexuality were evident and dilation procedures are an additional source of trauma for these patients.

[Congenital adrenal hyperplasia: a qualitative study on sex definition and redesignation dilation surgery and psychological support (part II)]. / Hiperplasia adrenal congênita: estudo qualitativo sobre definição e redefinição sexual, cirurgia de dilatação e apoio psicológico (parte II).

OBJECTIVE: To identify relevant questions related to sex definition and re-designation and reconstructive surgery in patients with congenital adrenal hyperplasia (CAH), and to understand the role of the psychologist in providing care for these patients. METHODS: We selected 21 subjects: 7 pediatric endocrinologists from 5 Brazilian Public Health System institutions, 9 parents and 6 patients with CAH, according to a qualitative research model. In this paper, 3 of the studied categories are analyzed: 'sex definition and re-designation', 'reconstructive surgery/vaginal dilation', and 'psychology'. RESULTS: Parents' main anguish relates to the situation of an unnamed sex at birth, whereas sex re-designation was distressful to physicians. A sense of loneliness when dealing with the disease and treatment was a common anguish among patients; dilation procedures were the major complaint. In general, physicians recommend that genital reconstructive surgery be performed early on to avoid future trauma. CONCLUSIONS: In such a complex scenario, it is remarkable that not all the reference service staff have a psychologist on duty. Difficulties to deal with questions involving sexuality were evident and dilation procedures are an additional source of trauma for these patients.

One-year clinical evaluation of single morning dose prednisolone therapy for 21-hydroxylase deficiency

Esquemas de reposição com hidrocortisona (HC) para a D21OH são, em geral, insatisfatórios e parcialmente eficientes quanto ao crescimento. Não aderência é comum já que a meia-vida da HC requer administração de 3 doses diárias. Mesmo várias doses não reproduzem a cronobiologia do cortisol e podem prejudicar os ritmos mediados pelo hipotálamo. Como glicocorticóides sintéticos podem melhorar o controle clínico, avaliamos os possíveis benefícios da terapia por um ano com fosfato de prednisolona (PD) em dose única matinal em 44 pacientes com D21OHD randomizados em 2 grupos: um (n=23) recebeu PD (2,4-3,5mg/m2SC) e o outro (n=21), HC 3 vezes ao dia (10-15mg/m2SC). Após um ano, a taxa de maturação óssea manteve-se estável no grupo PD (de 1,20 para 1,14), tendo aumentado discretamente (de 1,21 para 1,29) no grupo HC. A velocidade de crescimento (em SDS) foi preservada no grupo PD (de 1,2 para 1,2 no total de pacientes; 0,79 para 1,13 nos pré-púberes), enquanto discreto aumento ocorreu nos pré-púberes sob HC (1,1 to 1,9); a estatura para a IO (em SDS) elevou-se após um ano do uso de PD. Assim, pacientes com D21OH tratados por um ano com dose única matinal de PD parecem alcançar melhor controle clínico e hormonal do que aqueles usando 3 doses diárias de HC, permitindo inclusive a redução da dose. Nosso esquema atual de reposição com PD (1,5-3mg/m2SC/dia), sugere uma relação de bioequivalência HC:PD de 6-8:1.

Aplicação da cromatografia líquida de alta eficiência para quantificação direta da 17`alfa'-hidroxiprogesterona sérica / Application of reversed-phase liquid-cromatography (RP-HPLC) to direct quantification of 17-`alpha'-hydroxyprogesterone in serum

A determinação dos níveis séricos de 17`alfa'-hidroxiprogesterona (17OHP) é essencial no diagnóstico laboratorial da hiperplasia adrenal congênita (CAH) por deficiência de 21-hidroxilase. Essa condição é responsável por pseudo-hermaffroditismo em meninas e precocidade sexual em ambos os sexos. A 17OHP foi quantificada diretamente empregando-se cromatografia líquida de alta eficiência no modo fase reversa (RP-HPLC) em amostras de soro previamente extraídas com éter. Utilizou-se coluna ODS-Hypersil® e fase móvel composta de água-metanol (4:6 v/v) com vazão de 1,0 mL/min. A determinação deu-se em 246 nm. A 17OHP apresentou tempo de retenção de 5,6 min. O método mostrou-se eficaz e eficiente com sensibilidade e linearidade (r²=0,9993) na faixa de concentração estudada de 500 a 100.000 ng/dL...

Desenvolvimento de um radioimunoensaio para 21-deoxicortisol sérico e sua potencial aplicaçäo no diagnóstico da hiperplasia adrenal congênita / Development of a radioimmunoassay for serum 21-deoxycortisol and its potential application in the diagnosis of congenital adrenal hyperplasia

O 21-deoxicortisol (21DF) sérico tem sido considerado um excelente marcador para o diagnóstico da hiperplasia adrenal congênita (HAC) por deficiência de 21-hidroxilase (D21OH). Embora vários métodos de radioimunoensaio (RIE) tenham sido descritos para 21DF, nenhum deles está disponível comercialmente. Desenvolvemos um RIE adaptado para a dosagem de 21DF, com extraçäo prévia das amostras com éter e separaçäo por cromatografia líquida (HPLC). O ensaio foi aplicado para a avaliaçäo de crianças portadoras da forma clássica de D21OH (15F/10M) e um grupo controle (5F/8M). O anticorpo obtido, associado à eficiência da separaçäo por HPLC, viabilizou o emprego do cortisol triciado neste RIE. Enquanto nos pacientes os níveis de cortisol estavam reduzidos (48h após suspensäo do tratamento) em comparaçäo com o grupo controle (2,1±2,1 vs. 16,2±7,0mig/dl), os valores do 21DF sérico estavam bastante elevados (1.359±853ng/dl, variando de 434 a 3.079), embora consistentemente abaixo do limite de sensibilidade (156ng/dl) no grupo controle. O presente método, mesmo destituído de sensibilidade para aplicaçäo em indivíduos normais, permite a quantificaçäo deste esteróide em portadores de D21OH, com a sensibilidade e a especificidade necessárias para o diagnóstico e acompanhamento desta condiçäo clínica

Prevalência dos marcadores imunológicos Anti-GAD e Anti-IA2 em parentes de primeiro grau de diabéticos do tipo 1 em amostra da população da Grande São Paulo / Prevalence of immunological markers (Anti-GAD and Anti-IA2) in first-degree relatives of patients with type 1 diabetes in Great São Paulo City

O diabetes tipo 1A (DM1) é causado por mecanismo auto-imune contra células beta em indivíduos com predisposição genética. Auto-anticorpos anti-GAD e anti-IA2 são considerados importantes marcadores destas alterações, cuja prevalência variam, segundo a população estudada e história familiar. Dados sobre freqüência desses marcadores na população brasileira são escassos. OBJETIVOS: Avaliar a freqüência de anti-GAD e anti-IA2 em parentes de primeiro grau de portadores de DM1 (PDM1) em amostra da população da Grande São Paulo. MÉTODOS: Quarenta e oito jovens PDM1 foram recrutados junto a 36 propósitos assistidos em ambulatórios especializados em diabetes da Grande São Paulo, apresentando mediana de idade de 14,5 anos (6,7 a 17,9 anos). Os valores de referência do anti-GAD foram obtidos utilizado-se soros de 194 voluntários normais, sem antecedentes familiares de DM1, com idade de 9,7 a 64,0 anos (mediana de 13,4). Soros de 71 indivíduos normais com idade variando de 11,1 a 15,2 anos (Mi= 12,6) foram submetidos à dosagem de anti-IA2. As dosagens dos marcadores foram através do radioensaio (KRONUS®, Idaho, USA). Valores acima do 99º percentil obtido no grupo controle foram considerados positivos. RESULTADOS: O 99º percentil correspondeu ao valor 1,72 U/ml para o anti-GAD e 0,97 U/ml para o anti-IA2. Cinco indivíduos dos PDM1 (10,4 por cento) foram positivos para o anti-GAD, contra 0,5 por cento dos controles (P<0,01). Um jovem do grupo PDM1 mostrou-se positivo para o anti-IA2 (2,1 por cento), com freqüência semelhante aos controles. CONCLUSÃO: O anti-GAD mostrou maior prevalência entre os PDM1, não havendo diferença entre o PDM1 e controles quanto à freqüência de anti-IA2