OBJECTIVE: Celiac disease is a permanent enteropathy caused by the ingestion of gluten, which leads to an immunemediated inflammation of the small intestine mucosa. The prevalence of celiac disease varies among different nations and ethnic backgrounds, and its diversity is determined by genetic and environmental factors. São Paulo city is one of the largest cities in the world, with a vast population and an important history of internal migratory flow from other Brazilian regions, as well as immigration from other, primarily European, countries, resulting in significant miscegenation. The aim of the present study was to estimate the prevalence of adults with undiagnosed celiac disease among blood donors of São Paulo by collecting information on the ancestry of the population studied. METHODS: The prevalence of celiac disease was assessed by screening for positive IgA transglutaminase and IgA endomysium antibodies in 4,000 donors (volunteers) in the Fundação Pró-Sangue Blood Center of São Paulo, São Paulo, Brazil. The antibody-positive subjects were asked to undergo a small bowel biopsy. RESULTS: Of the 4,000 subjects, twenty-four had positive tests, although both antibody tests were not always concordant. For example, ten subjects were positive for IgA tissue transglutaminase only. In twenty-one positive patients, duodenal biopsies were performed, and the diagnosis of celiac disease was confirmed in fourteen patients (Marsh criteria modified by Oberhuber). In this group, 67% claimed to have European ancestry, mainly from Italy, Portugal and Spain. CONCLUSION: The prevalence of celiac disease is at least 1:286 among supposedly healthy blood bank volunteers in São Paulo, Brazil.

Ultraviolet radiation is the major exogenous mediators of skin damage. To prevent such damage, sunscreen products are used. New research aims at both the elucidation of new sunscreen compounds, as well as new assets for supporting and synergistic action. In this article it is presented a systematic data of innovation for sunscreen and a discussion on prospects for partnership between universities and enterprises, where it is believed that the innovations in cosmetics, driven by the constant demand of the market in new products, may be a stimulus for the interactions between university and company in Brazil.

OBJETIVO: Identificar nos representantes de famílias com glaucoma primário de ângulo aberto (GPAA) mutações no exon 3 do gene TIGR/MYOC e avaliar a expressão fenotípica associada às mutações encontradas em seus respectivos núcleos familiares. MÉTODOS: Setenta e oito pacientes (81,2%), com pelo menos um representante na família com GPAA, e dezoito pacientes (18,7%) com glaucoma esporádico tiveram o exon 3, do gene TIGR/MYOC, submetido a seqüenciamento automático para identificação de mutações. Os pacientes, com mutação não silenciosa identificadas nesta triagem inicial, tiveram os heredogramas de suas famílias construídos. Todos os seus familiares disponíveis foram submetidos a exame oftalmológico e seqüenciamento automático do exon 3, do gene TIGR/MYOC. RESULTADOS: Foram identificados quatro tipos de variações na seqüência do exon 3 do TIGR/MYOC (Cys433Arg, Pro370Pro, Lys398Arg e Tyr347Tyr) nos 96 pacientes inicialmente estudados. A mutação Lys398Arg previamente descrita como polimorfismo não segregou com a doença na família estudada. A mutação Cys433Arg foi a mais prevalente afetando 3,1% da amostra inicial (3/96). Em duas diferentes famílias (56 integrantes disponíveis para exame), 8/56 carregavam a mutação Cys433Arg e tinham GPAA, 5/56 com mutação eram hipertensos oculares e 8/56 com mutação não apresentavam manifestações da doença. Pacientes com GPAA apresentaram mediana de idade de diagnóstico de 43,25 anos, variando entre 17-58, e média de pressão intra-ocular (PIO) de 36,3±3,8 mmHg para olho direito e 37,6±9,75 mmHg para olho esquerdo. O grupo com a mutação Cys433Arg apresentou PIO significantemente mais elevada (p<0,0007) e relação escavação/disco vertical mais comprometida (p<0,023) que o grupo de pacientes sem mutação. CONCLUSÃO: A mutação no exon 3 do gene TIGR/MYOC associa-se com famílias brasileiras portadoras de GPAA de início precoce. O fenótipo desta mutação é caracterizado por variável idade de diagnóstico, causando GPAA-juvenil e GPAA do adulto, PIO bastante elevada, de difícil controle, freqüentemente levando a grave comprometimento visual.

PURPOSE: To investigate the phenotype of primary open-angle glaucoma (POAG) in Brazilian families with mutation in exon 3 of TIGR/MYOC. METHODS: Seventy-eight POAG patients with a positive family history and eighteen unrelated patients with POAG were screened by automated DNA sequencing for mutations in exon 3 of the TIGR/MYOC gene. The pedigrees of POAG patients with mutations that lead to amino acid change were built. All available relatives of the index cases were also examined and genotyped by sequencing. RESULTS: Four sequence variants were identified in exon 3 of the TIGR/MYOC gene (Tyr347Tyr, Pro370Pro, Lys398Arg and Cys433Arg) from the 96 initially screened patients. The Lys398Arg mutation was previously described as a polymorphism and in our study did not segregate with POAG. The most prevalent mutation was Cys433Arg, affecting 3 index cases (3.1% or 3/96). In two different families, 8/56 subjects presented Cys433Arg mutation and had POAG, 5/56 had ocular hypertension and 8/56 had no disease manifestation. POAG patients had a median age at diagnosis of 43.25 yr (17-58 yr) and intraocular pressure (IOP) with a mean of 36.3 ± 3.8mmHg for the right eye and 37.6 ± 9.75 mmHg for the left eye. The group of patients with Cys433Arg mutation had significantly higher IOP (p<0.0007) and vertical cup/disc ratio when compared to the patients without mutation (p<0.023). CONCLUSIONS: Cys433Arg mutation in exon 3 of the TIGR/MYOC gene is related to juvenile-onset POAG (J-POAG) in Brazilian families and autosomal dominant inheritance. The phenotype of this mutation is characterized by varied ages at diagnosis, causing J-POAG and late-onset POAG, associated with high IOP.

OBJETIVO: Avaliar a prevalência de sobrepeso e obesidade em pacientes ambulatoriais com diabetes mellitus tipo 2 (DM2) em diferentes regiões do Brasil. PACIENTES E MÉTODOS: Avaliamos aleatoriamente 2.519 pacientes em 11 hospitais, 2 ambulatórios especializados e um posto de saúde em 10 cidades brasileiras. Consideramos sobrepeso um índice de massa corporal (IMC) > 25 e obesidade um IMC > 30 kg/m². O controle glicêmico (CG) foi avaliado pelo índice de CG [ICG= HbA1 e ou HbA1c do paciente/limite superior de normalidade do método x 100]. RESULTADOS: Os pacientes tinham idade de 58,8 ± 11,6 anos, tempo de diagnóstico clínico de DM de 9,0 ± 7,3 anos, IMC de 28,3 ± 5,2 kg/m², e 39% eram do sexo masculino. Do total da amostra, 265 pacientes (10,5%) não apresentavam avaliação do IMC. Os pacientes da região Nordeste apresentaram menor IMC em comparação com os das regiões Centro-Oeste, Sudeste e Sul, respectivamente (26,4 ± 4,7 vs. 27,9 ± 4,8 vs. 29,2 ± 5,1 vs. 29,4 ± 5,4 kg/m²; p< 0,001). Houve maior prevalência de obesidade na região Sudeste e Sul em comparação à região Nordeste (p< 0,001) e nos pacientes do sexo feminino, respectivamente (69 vs. 31%; p< 0,001). Os pacientes com peso normal apresentaram menor ICG. Aqueles em tratamento com associação de duas ou mais drogas orais e associação de insulina + droga oral apresentaram maior IMC do que aqueles em tratamento com dieta, hipoglicemiante oral e insulina; p< 0,001. O IMC não diferiu entre os pacientes assistidos ou não por especialistas. CONCLUSÕES: Da população estudada, 75% não estava na faixa de peso ideal, sendo que um terço tinha obesidade. Nossos dados indicam que o sobrepeso e a obesidade já atingem um percentual de pacientes com DM2 no Brasil semelhante ao relatado em estudos europeus, mas ainda menor do que o observado nos EUA. A prevalência de obesidade nos pacientes diabéticos foi três vezes maior do que a observada na população brasileira em geral de acordo com os dados do IBGE.

AIM: To evaluate the prevalence of overweight and obesity in type 2 diabetic (DM2) outpatients from different regions of Brazil. PATIENTS AND METHODS: We studied 2,519 randomly selected patients, from 11 hospitals, 2 endocrine and one general public care clinics from 10 cities. Overweight was defined as body-mass index (BMI) > 25 and obesity as BMI > 30 kg/m². Glycemic control (GC) was evaluated by GC index (GCI= patient's HbA1 or HbA1c/upper limit of normal for the method x 100). RESULTS: 39% of the population studied was male, the mean age was 58.8 ± 11.6 y, the duration from clinical diagnosis of DM2 was 9.0 ± 7.3y, and BMI was 28.3 ± 5.2 kg/m². No measurements of BMI were recorded from 265 patients (10.5%). Patients from the Northeast presented lower BMI as compared with those from the Midwest, Southeast and South areas, respectively (26.4 ± 4.7 vs. 27.9 ± 4.8 vs. 29.2 ± 5.1 vs. 29.4 ± 5.4 kg/m²; p< 0.001). A greater prevalence of obesity was observed in the Southeast and South areas as compared to the Northeast (p< 0.001), as well as in the female group, respectively (69% vs. 31%; p< 0.001). Normal weight patients presented lower GCI. Patients being treated with two or more oral drugs and an association of insulin plus oral drug presented greater BMI values than those being treated with diet, oral hypoglycemic agents and insulin p< 0.001. The BMI of patients treated by a specialist did not differ from those treated by a generalist. CONCLUSIONS: 75% of our sample was out of adequate BMI and 30% was obese. The percentage of patients with overweight and obesity was comparable to those found in similar European studies but still lower than those found in the USA. The prevalence of obesity in diabetic patients was three times higher than in the overall Brazilian population according to data from the Brazilian Institute of Geography and Statistics (IBGE).

O OBJETIVO DESSA APRESENTAÇÃO é a discussão do caso de uma paciente com a Síndrome de von Hippel-Lindau, sob os seus diferentes aspectos clínicos, laboratoriais, radiológicos e terapêuticos. A seguir será apresentado o estudo genético realizado na paciente e serão discutidas a principais alterações gênicas envolvidas no aparecimento dessa síndrome clínica.

O perfil glicêmico esperado em pacientes pós-operatórios sépticos recebendo nutrição enteral de elevado teor calórico é de valores sanguíneos no limite superior do normal ou mesmo hiperglicemia moderada.A adição de hormônio do crescimento (GH) como agente anabólico deveria reforçar ainda mais esta tendência.Num paciente com câncer submetido a gastrectomia parcial e linfadenectomia, que se complicou no pós operatório com abscesso subfrênico e sepse prolongada, administrou-se conjuntamente dieta de sonda (38,3 kcal/kg/dia) e GH (0,17 UI/kg/dia).Antes da introdução de GH as taxas glicêmicas situavam-se nos limites inferiores do normal, e esta tendência persistiu durante a maior parte do período terapêutico.Duas complicações adicionais, nominalmente parada cardíaca e edema periférico, foram documentadas nesta mesma etapa.Conclui-se que a sepse é o mais provável mecanismo de redução da glicemia neste caso, e que o emprego de dieta enteral e de GH não conseguiu prevenir tal efeito.É questionável se a parada cardíaca foi devida ao suplemento hormonal, mas o edema periférico é um secundarismo bem conhecido deste agente em estudos clínicos.

Blood glucose levels in the high normal range or even moderate hyperglycemia is the expected profile in septic postoperative patients receiving high-calorie enteral alimentation. The addition of growth hormone as an anabolic agent should additionally reinforce this tendency. In a cancer patient undergoing partial gastrectomy with lymphadenectomy and suffering from postoperative subphrenic abscess and prolonged sepsis, tube feeding (38.3 kcal/kg/day) and growth hormone (0.17 IU/kg/day) were simultaneously administered for 25 days. Blood glucose levels were in the lower limits of the normal range before growth hormone introduction, and continued with a similar tendency during most of the therapeutic period. Two additional complications, namely heart arrest and peripheral edema, were documented during the same period. It is concluded that sepsis was the most likely mechanism for low glucose values, and that high-calorie enteral diet and growth hormone supplementation did not prevent that result. It is uncertain whether heart arrest was due to the drug, but its association with peripheral edema is well documented in clinical series.