Clinical and laboratorial study of 19 cases of mucopolysaccharidoses

The mucopolysaccharidoses (MPS) are a heterogeneous group of inborn errors of lysosomal glycosaminoglycan (GAG) metabolism. The importance of this group of disorders among the inborn errors of metabolism led us to report 19 cases. METHOD: We performed clinical, radiological, and biochemical evaluations of the suspected patients, which allowed us to establish a definite diagnosis in 19 cases. RESULTS: Not all patients showed increased GAG levels in urine; enzyme assays should be performed in all cases with strong clinical suspicion. The diagnosis was made on average at the age of 48 months, and the 19 MPS cases, after a full clinical, radiological, and biochemical study, were classified as follows: Hurler -- MPS I (1 case); Hunter -- MPS II (2 cases); Sanfilippo -- MPS III (2 cases); Morquio -- MPS IV (4 cases); Maroteaux-Lamy -- MPS VI (9 cases); and Sly -- MPS VII (1 case). DISCUSSION: The high relative frequency of Maroteaux-Lamy disease contrasts with most reports in the literature and could express a population variability.As mucopolissacaridoses (MPS) constituem um grupo de erros inatos do metabolismo lisossomal dos glicosaminoglicanos (GAG) bastante heterogêneo. A importância das MPS levou-nos a relatar as características de 19 casos. MÉTODO: Realizamos uma avaliação clínica, radiológica e bioquímica, incluindo estudos enzimáticos, que nos permitiram estabelecer o diagnóstico definitivo em 19 casos. RESULTADOS: Nem todos os pacientes apresentaram níveis elevados de GAG na urina, devendo os ensaios enzimáticos serem realizados em todos os pacientes com forte suspeita clínica. O diagnóstico foi estabelecido em média aos 48 meses de idade e os casos, após amplo estudo clínico, radiológico e bioquímico, foram classificados como: Hurler -- MPS I (1 caso); Hunter -- MPS II (2 casos); Sanfilippo -- MPS III (2 casos); Morquio -- MPS IV (4 casos); Maroteaux-Lamy -- MPS VI (9 casos); e Sly -- MPS VI (1 caso). DISCUSSÃO: A proporção relativamente alta de MPS VI (Maroteaux-Lamy) contrasta com a maioria dos dados da literatura e pode expressar uma variabilidade populacional

Moscas-das-frutas (Diptera: Tephritidae) obtidas de frutos comercializados no mercado ver-o-peso, em Belém, Pará, Brasil.

Neste trabalho reportamos a ocorrência de espécies de moscas-das-frutas (Diptera: Tephritidae) em frutos comercializados no mercado Ver-o-Peso, em Belém, Pará, Brasil. Amostras de frutos potencialmente hospedeiros de moscas-das-frutas foram adquiridas quinzenalmente, de setembro de 2016 a fevereiro de 2017. Foram coletadas 77 amostras (13.855 frutos – 140,6 kg), pertencentes a 16 espécies vegetais de oito famílias botânicas. Foram obtidos 2.385 pupários de moscas-das-frutas das, de 51 amostras (10 espécies de 5 famílias botânicas), de onde emergiram 5 espécies de moscas-das-frutas: Anastrepha antunesi Lima, Anastrepha fraterculus (Wiedemann), Anastrepha obliqua (Macquart), Anastrepha serpentina (Wiedemann) e Ceratitis capitata (Wiedemann). Adicionalmente, foram obtidos 133 exemplares de parasitoides Braconidae: Doryctobracon areolatus (Szépligeti) e Opius bellus Gahan.bitstream/item/206091/1/CPAF-AP-2019-Moscas-das-frutas-obtidas-de-frutos.pd

Insulin resistance in adolescents with Down syndrome: a cross-sectional study

BACKGROUND: The prevalence of diabetes mellitus is higher in individuals with Down syndrome (DS) than in the general population; it may be due to the high prevalence of obesity presented by many of them. The aim of this study was to evaluate the insulin resistance (IR) using the HOMA (Homeostasis Model Assessment) method, in DS adolescents, describing it according to the sex, body mass index (BMI) and pubertal development. METHODS: 15 adolescents with DS (8 males and 7 females) were studied, aged 10 to 18 years, without history of disease or use of medication that could change the suggested laboratory evaluation. On physical examination, the pubertal signs, acanthosis nigricans (AN), weight and height were evaluated. Fasting plasma glucose and insulin were analysed by the colorimetric method and RIA-kit LINCO, respectively. IR was calculated using the HOMA method. The patients were grouped into obese, overweight and normal, according to their BMI percentiles. The EPIINFO 2004 software was used to calculate the BMI, its percentile and Z score. RESULTS: Five patients were adults (Tanner V or presence of menarche), 9 pubertal (Tanner II – IV) and 1 prepubertal (Tanner I). No one had AN. Two were obese, 4 overweight and 9 normal. Considering the total number of patients, HOMA was 1.7 ± 1.0, insulin 9.3 ± 4.8 μU/ml and glucose 74.4 ± 14.8 mg/dl. The HOMA values were 2.0 ± 1.0 in females and 1.5 ± 1.0 in males. Considering the nutritional classification, the values of HOMA and insulin were: HOMA: 3.3 ± 0.6, 2.0 ± 1.1 and 1.3 ± 0.6, and insulin: 18.15 ± 1.6 μU/ml, 10.3 ± 3.5 μU/ml and 6.8 ± 2.8 μU/ml, in the obese, overweight and normal groups respectively. Considering puberty, the values of HOMA and insulin were: HOMA: 2.5 ± 1.3, 1.4 ± 0.6 and 0.8 ± 0.0, and insulin: 13.0 ± 5.8 μU/ml, 7.8 ± 2.9 μU/ml and 4.0 ± 0.0 μU/ml, in the adult, pubertal and prepubertal groups respectively. CONCLUSION: The obese and overweight, female and adult patients showed the highest values of HOMA and insulin

New CBP mutations in Brazilian patients with Rubinstein-Taybi syndrome

Univ São Paulo, Fac Med, Dept Pediat, Lab Invest Med LIM 36, São Paulo, BrazilInst Med Integral Prof Fernando Figueira IMIP, Lab Med Translac Prof CA Hart, BR-50070550 Recife, PE, BrazilFac Med ABC, Clin Lab, São Paulo, BrazilWeb of Scienc

Prenatal exposure to misoprostol and vascular disruption defects: a case-control study

Made available in DSpace on 2010-08-23T16:00:16Z (GMT). No. of bitstreams: 2 Prenatal exposure to misoprostol.pdf: 83469 bytes, checksum: b5a75bab289a9434c882199d2912fe0f (MD5) license.txt: 1878 bytes, checksum: 4ab65ca798f15d32db061c8ec1b00ab1 (MD5) Previous issue date: 2000Universidade Federal do Estado do Rio de Janeiro. Hospital Universitário Gaffrée-Guinle. Rio de Janeiro, RJ, Brasil.Universidade Federal do Rio Grande do Sul. Porto Alegre, RS, Brasil.Hospital São Paulo. São Paulo, SP, Brasil.Universidade de São Paulo. Faculdade de Medicina. Instituto da Criança. Hospital das Clínicas, São Paulo, SP, Brasil.Hospital São Paulo. São Paulo, SP, Brasil.Universidade de São Paulo. Faculdade de Medicina. Instituto da Criança. Hospital das Clínicas, São Paulo, SP, Brasil.Maternidade Estadual Menino Jesus. São Paulo, Brasil.Fundação Oswaldo Cruz. Instituto Fernandes Figueira. Rio de Janeiro, RJ, Brasil.Fundação Oswaldo Cruz. Instituto Fernandes Figueira. Rio de Janeiro, RJ, Brasil.Instituto Materno Infantil Pernambuco. Recife, PE Brasil.Universidade Estadual de Campinas. Campinas, SP, Brasil.Funfarme. São José do Rio Preto, SP, Brasil.Hospital for Sick Children. The Motherisk Program. Toronto, Canadá.Universidade do Rio de Janeiro. Instituto National do Câncer. Unidade de Genética. Rio de Janeiro, RJ, Brasil.Prenatal exposure to misoprostol has beenassociated with Moebius and limb defects.Vascular disruption has been proposed asthe mechanism for these teratogenic effects. The present study is a multicenter, casecontrol study that was designed to compare the frequency of prenatal misoprostol use between mothers of Brazilian children diagnosedwith vascular disruption defects andmatched control mothers of children diagnosed with other types of defects. A total of 93 cases and 279 controls were recruited in eight participating centers. Prenatal exposure was identified in 32 infants diagnosed with vascular disruption defects (34.4 percent) compared with only 12 (4.3 percent) in the control group (P menor que 0.0000001). Our data suggest thatprenatal exposure to misoprostol is associated to the occurrence of vascular disruption defects in the newborns