SUMMARY Identification of the correct etiology of diabetes brings important implications for clinical management. In this report, we describe a case of a 4-year old asymptomatic girl with diabetes since age 2, along with several individuals in her family with different etiologies for hyperglycemia identified in youth. Genetic analyses were made by Sanger sequencing, laboratory measurements included HbA1c, lipid profile, fasting C-peptide, pancreatic auto-antibodies (glutamic acid decarboxylase [GAD], Islet Antigen 2 [IA-2], and anti-insulin). We found a Gly178Ala substitution in exon 5 of GCK gene in three individuals co-segregating with diabetes, and type 1 diabetes was identified in two other individuals based on clinical and laboratory data. One individual with previous gestational diabetes and other with prediabetes were also described. We discuss difficulties in defining etiology of hyperglycemia in youth in clinical practice, especially monogenic forms of diabetes, in spite of the availability of several genetic, laboratory, and clinical tools.

OBJETIVO: Neste trabalho, analisa-se o efeito de dieta hiperlipídico-proteica com baixo teor de carboidrato sobre o peso corporal, peso de órgãos, consumo de ração, parâmetros bioquímicos e alterações histopatológicas no fígado de ratos. MÉTODOS: Foram utilizados 24 animais - 12 no grupo-controle e 12 no grupo-experimental - com peso médio de 160 gramas no início do experimento. Semanalmente, foram verificados o peso corporal e o consumo de ração, e ao final de oito semanas foram feitas as dosagens bioquímicas sanguíneas, pesagem de órgãos e análise histopatológica dos fígados. RESULTADOS: Os animais do grupo-experimental tiveram maior ganho de peso corporal e acumularam mais tecido adiposo que os animais do grupo-controle. Fígado, rins e baço não sofreram alterações quanto ao peso. Os animais que receberam dieta hiperlipídico-proteica tiveram um aumento na ingestão energética acumulada nas oito semanas do estudo. O grupo-experimental desenvolveu hiperglicemia e hipertrigliceridemia, aumento da fração lipoproteína de alta densidade do colesterol e da creatinina sérica quando comparado ao grupo-controle. Foi detectada esteatose hepática no grupo-experimental. CONCLUSÃO: Os resultados demonstraram que dietas pobres em carboidratos e ricas em gordura e proteínas podem acarretar alterações metabólicas prejudiciais ao organismo.

OBJECTIVE: This study analyzed the effect of a high fat, high protein and low carbohydrate diet on the body weight, organ weight, food intake and biochemical parameters of rats and the histopathological changes in their livers. METHODS: A total of 24 animals were used, 12 in the control group and 12 in the experimental group, with a mean weight of 160 grams at baseline. Body weight and food intake were collected weekly. At the end of 8 weeks, the animals were killed for the biochemical tests and weighing of organs and the livers were submitted to histopathological analysis. RESULTS: The animals in the experimental group gained more weight and accumulated more body fat than the animals in the control group. The weight of the liver, kidneys and spleen did not change. The animals fed the low carbohydrate diet consumed more calories during the 8 weeks of the study period. They also developed hyperglycemia and hypertriglyceridemia and presented high high-density lipoprotein cholesterol and serum creatinine. The experimental group also presented hepatic steatosis. CONCLUSION: The results show that low carbohydrate diets that are rich in fats and proteins may result in harmful metabolic changes in rats.

Objetivo: avaliar a influência da pineal sobre a ingestão de água e de NaCl em ratas normais e ooforectomizadas. Métodos: utilizaram-se 48 (n = 48) ratas adultas, divididas ao acaso em quatro grupos: GI - mantidas sem manipulação, servindo como controle (n = 20); GII - submetidas à ooforectomia bilateral (n = 8); GIII - submetidas à pinealectomia (n = 12); GIV - submetidas à ooforectomia bilateral e à pinealectomia (n = 8). A seguir, todos os animais foram mantidos em gaiolas individuais; após três semanas. Determinou-se diariamente a fase do ciclo por esfregaço vaginal e anotou-se diariamente o volume ingerido de água e NaCl a 0,25 M, por aproximadamente três meses. Resultados: 1) as ratas submetidas somente à pinealectomia apresentaram maior freqüência da fase de estro, sendo que algumas entraram em estado de estro permanente; 2) o consumo de líquidos (água e solução salina) não se alterou durante as diferentes fases do ciclo estral; 3) as ratas do grupo submetido à ooforectomia tiveram maior consumo de água, sendo que a pinealectomia nesses animais restabeleceu o consumo normal de água; 4) os animais ooforectomizados e os ooforectomizados e pinealectomizados mostraram redução do consumo médio de solução salina. Conclusões: os dados obtidos sugerem que a glândula pineal poderia modular a ação dos esteróides ovarianos sobre a ingestão de sal e água em ratas adultas.

Purpose: to evaluate the effects of oophorectomy and pinealectomy on the ingestion of water and NaCl solution by adults female rats. Methods: forty-eight adult virgin female rats (Wistar EPM 1) weighing 200 g were kept on routine laboratory care and fed water and Purina rat chow ad libitum. The animals were random by divided into four groups: GI - maintained without manipulation as a control group (n = 20); GII - submitted to bilateral oophorectomy (n = 8); GIII - submitted to pinealectomy (n = 12); GIV - submitted to bilateral oophorectomy and pinealectomy (n = 8). All animals were maintained in individual cages. After three weeks the cycle phase was daily determined by vaginal smears and the volume of water and NaCl (0.25 M) solution was daily recorded for approximately three weeks. Results: the main results were: 1) rats submitted to pinealectomy alone presented a greater frequency of the estrous phase, some of these undergoing persistent estrus; 2) the liquid ingestion (water and saline solution) did not alter during the phases of the estrous cycle; 3) rats submitted to oophorectomy presented greater water ingestion and after pinealectomy water consumption returned to normal levels; 4) the oophorectomized and pinealectomized animals and those only oophorectomized showed reduction in the average consumption of saline solution. Conclusions: the data suggest that the ovaries and the pineal gland could have effects on the ingestion of salt and water in adult rats.