ABSTRACT
Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder with clinical and genetic heterogeneity. This syndrome was first described by Laurence and Moon in 1866 and additional cases were described by Bardet and Biedl between 1920 and 1922. The main features are obesity, polydactyly, pigmentary retinopathy, learning disabilities, various degrees of intellectual impairment, hypogonadism, and renal abnormalities. Bardet-Biedl syndrome is both phenotypically and genetically heterogeneous. Clinical diagnosis is based on the presence of 4 of the 5 cardinal features. The authors present a typical case of pigmentary retinopathy due to Bardet-Biedl syndrome and made a brief commentary about the disease's cardinal manifestations.
Subject(s)
Bardet-Biedl Syndrome/complications , Retinitis Pigmentosa/etiology , Adolescent , Female , Humans , Retinitis Pigmentosa/pathologyABSTRACT
Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder with clinical and genetic heterogeneity. This syndrome was first described by Laurence and Moon in 1866 and additional cases were described by Bardet and Biedl between 1920 and 1922. The main features are obesity, polydactyly, pigmentary retinopathy, learning disabilities, various degrees of intellectual impairment, hypogonadism, and renal abnormalities. Bardet-Biedl syndrome is both phenotypically and genetically heterogeneous. Clinical diagnosis is based on the presence of 4 of the 5 cardinal features. The authors present a typical case of pigmentary retinopathy due to Bardet-Biedl syndrome and made a brief commentary about the disease's cardinal manifestations.
A síndrome de Bardet-Biedl (BBS) é uma desordem autossômica recessiva rara, com heterogeneidade clínica e genética. Esta síndrome foi descrita pela primeira vez por Laurence e Moon em 1866 e outros casos foram descritos por Bardet e Biedl entre 1920 e 1922. As principais características são obesidade, polidactilia, retinopatia pigmentar, dificuldades de aprendizagem, graus de deficiência intelectual diversos, hipogonadismo e anomalias renais. Síndrome de Bardet-Biedl é fenotipicamente e geneticamente heterogêneos. O diagnóstico clínico baseia-se na presença de quatro dos cinco sinais principais da síndrome. Os autores apresentam um caso típico de retinopatia pigmentar devido à síndrome de Bardet-Biedl e fazem uma breve revisão sobre as manifestações da síndrome com especial atenção à retinopatia pigmentar.
Subject(s)
Adolescent , Female , Humans , Bardet-Biedl Syndrome/complications , Retinitis Pigmentosa/etiology , Retinitis Pigmentosa/pathologyABSTRACT
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).
Subject(s)
Body Mass Index , Diabetes Mellitus, Type 2/complications , Obesity/epidemiology , Adult , Brazil/epidemiology , Cross-Sectional Studies , Female , Humans , Male , Middle Aged , Obesity/complications , Overweight , PrevalenceABSTRACT
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 por cento eram do sexo masculino. Do total da amostra, 265 pacientes (10,5 por cento) 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 por cento; 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 por cento 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.
Subject(s)
Humans , Male , Female , Adult , Middle Aged , Body Mass Index , /complications , Obesity/epidemiology , Brazil/epidemiology , Cross-Sectional Studies , Overweight , Obesity/complications , PrevalenceABSTRACT
Major clinical studies have shown that the targets for blood glucose, lipid profile and blood pressure in type 2 diabetic patients are difficult to maintain in clinical practice. However, there are few data concerning South American populations. Using guidelines represented by the Brazilian Diabetes Society, we evaluated cardiovascular (CV) risk factors, glycemic control and the availability of screening for diabetes complications in 2233 (60% females) outpatients with type 2 diabetes aged 59.2 +/- 11.3 yr and with a known duration of diabetes of 9.2 +/- 7.2 yr, collected from 8 Brazilian cities. The outcome showed that less intensive clinical care available for diabetic patients in Brazil compared to western industrialized countries leads to widespread poor metabolic control and health status. Less than 30% of the patients reached the target for systolic (28.5%, < 130 mmHg) and diastolic (19.3%, < 80 mmHg) blood pressure, BMI (24.6%, < 25 kg/m2), LDL cholesterol (20.6%, < 2.6 mmol/l) and only 46% reached the goal for HbA1c (one % point above the upper limits of normality for the method used). Only 0.2% of patients reached all the targets. A lower number of women reached the targets for HbA1c, LDL and HDL cholesterol than men (p < 0.001). Women were less likely than men to have funduscopy examinations and urine albumin testing (p < 0.001). We conclude that the national goals for glycemic control, blood pressure and lipid levels are rarely achieved in clinical practice, and that the availability for diabetic complication screening is low. The quality of diabetes care, in particular for women, is poor and should be further reviewed in developing countries.
