Six new cases confirm the clinical molecular profile of complete combined 17α-hydroxylase/ 17,20-lyase deficiency in Brazil

In 2004, Costa-Santos and cols. reported 24 patients from 19 Brazilian families with 17α-hydroxylase deficiency and showed that p.W406R and p.R362C corresponded to 50% and 32% of CYP17A1 mutant alleles, respectively. The present report describes clinical and molecular data of six patients from three inbred Brazilian families with 17α-hydroxlyse deficiency. All patients had hypogonadism, amenorrhea and hypertension at diagnosis. Two sisters were found to be 46,XY with both gonads palpable in the inguinal region. All patients presented hypergonadotrophic hypogonadism, with high levels of ACTH (> 104 ng/mL), suppressed plasmatic renin activity, low levels of potassium (< 2.8 mEq/L) and elevated progesterone levels (> 4.4 ng/mL). Three of them, including two sisters, were homozygous for p.W406R mutation and the other three (two sisters and one cousin) were homozygous for p.R362C. The finding of p.W406R and p.R362C in the CYP17A1 gene here reported in additional families, confirms them as the most frequent mutations causing complete combined 17α-hydroxylase/17,20-lyase deficiency in Brazilian patients.

Long-term follow-up of an 8-year-old boy with insulinoma as the first manifestation of a familial form of multiple endocrine neoplasia type 1

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant hereditary cancer syndrome characterized mostly by parathyroid, enteropancreatic, and anterior pituitary tumors. We present a case of an 8-year-old boy referred because of hypoglycemic attacks. His diagnosis was pancreatic insulinoma. Paternal grandmother died due to repeated gastroduodenal ulcerations and a paternal aunt presented similar manifestations. At a first evaluation, the father presented only gastric ulceration but subsequently developed hyperparathyroidism and lung carcinoid tumor. During almost 15 years of follow-up, three brothers and the index case presented hyperparathyroidism and hyperprolactinemia. Molecular study showed a G to A substitution in intron 4, at nine nucleotides upstream of the splicing acceptor site, causing a splicing mutation. All affected members of the family have the same mutation. Paternal grandmother and aunt were not studied and the mother does not carry any mutation. MEN1 is a rare condition that requires permanent medical assistance. Early clinical and genetic identification of affected individuals is essential for their own surveillance and also for genetic counseling.

Hormônio de crescimento em crianças e adolescentes com fibrose cística

The recombinant human growth hormone (rhGH) can improve weight gain, physical growth, clinical and lung in cystic fibrosis (CF). However, the routine use, although promising, is not established in the literature. The objective of this study was to assess the benefits of rhGH in children and adolescents with CF. We conducted a systematic review in the database PubMed, Lilacs, SciELO and Cochrane, in the period 2000-2010, using the keywords: cystic fibrosis, growth hormone, children and adolescents. We found 77 articles and included 11 randomized controlled trials, with 290 children and adolescents with CF. The short-term use (1-24 months) of rhGH improved the height, weight, growth rate, bone mineral content and components of pulmonary function. Adverse effects, like diabetes, were not observed in the studies. The short-term use of rhGH improved growth and body composition in patients with CF.

46,XX DSD and Antley-Bixler syndrome due to novel mutations in the cytochrome P450 oxidoreductase gene

Deficiency of the enzyme P450 oxidoreductase is a rare form of congenital adrenal hyperplasia with characteristics of combined and partial impairments in steroidogenic enzyme activities, as P450 oxidoreductase transfers electrons to CYP21A2, CYP17A1, and CYP19A1. It results in disorders of sex development and skeletal malformations similar to Antley-Bixley syndrome. We report the case of a 9-year-old girl who was born with virilized genitalia (Prader stage V), absence of palpable gonads, 46,XX karyotype, and hypergonadotropic hypogonadism. During the first year of life, ovarian cyst, partial adrenal insufficiency, and osteoarticular changes, such as mild craniosynostosis, carpal and tarsal synostosis, and limited forearm pronosupination were observed. Her mother presented severe virilization during pregnancy. The molecular analysis of P450 oxidoreductase gene revealed compound heterozygosis for the nonsense p.Arg223*, and the novel missense p.Met408Lys, inherited from the father and the mother, respectively. Arq Bras Endocrinol Metab. 2012;56(8):578-85

Estado nutricional e desempenho motor de escolares = : Nutritional state and motor performance of scholl-age children

Universidade Estadual de Campinas . Faculdade de Educação Física

Mensuração da potência mecânica em esforços de alta intensidade na condição laboratorial de corrida atada e na condição de campo em corrida semi-atada e livre

Universidade Estadual de Campinas . Faculdade de Educação Física

Validade de equipamento eletronico informatizado para analise de movimentos tecnicos do voleibol : um estudo na categoria juvenil

Universidade Estadual de Campinas . Faculdade de Educação Física

Teste de banco : adequação da altura do ergometro a estatura, para individuos a partir de 09 anos de idade, de ambosos sexos, praticantes e não praticantes de atividade fisica

Universidade Estadual de Campinas. Faculdade de Educação Física

Avaliação da aprendizagem em educação fisica na escola de 1. grau

Universidade Estadual de Campinas. Faculdade de Educação Física

Teste de banco com carga continua para analise do volume de oxigenio (VO2) predito e analisado por tempo de esforço em pessoas treinadas (TRD), ativas (ATV) e destreinadas (DTR) a partir dos 13 anos : proposta de validação

Universidade Estadual de Campinas . Faculdade de Educação Física

Epilepsia e atividade fisica : um estudo em crianças e adolescentes epileticos

Universidade Estadual de Campinas . Faculdade de Educação Física

No circuito dançante de São Caetano do Sul : juventude, liberdade e prazer no lazer noturno urbano

Universidade Estadual de Campinas . Faculdade de Educação Física

Contribution Of Antepartum And Intrapartum Hemorrhage To The Burden Of Maternal Near Miss And Death In A National Surveillance Study

Objective To evaluate the occurrence of severe obstetric complications associated with antepartum and intrapartum hemorrhage among women from the Brazilian Network for Surveillance of Severe Maternal Morbidity.Design Multicenter cross-sectional study.Setting Twenty-seven obstetric referral units in Brazil between July 2009 and June 2010.Population A total of 9555 women categorized as having obstetric complications.Methods The occurrence of potentially life-threatening conditions, maternal near miss and maternal deaths associated with antepartum and intrapartum hemorrhage was evaluated. Sociodemographic and obstetric characteristics and the use of criteria for management of severe bleeding were also assessed in these women.Main outcome measures The prevalence ratios with their respective 95% confidence intervals adjusted for the cluster effect of the design, and multiple logistic regression analysis were performed to identify factors independently associated with the occurrence of severe maternal outcome.Results Antepartum and intrapartum hemorrhage occurred in only 8% (767) of women experiencing any type of obstetric complication. However, it was responsible for 18.2% (140) of maternal near miss and 10% (14) of maternal death cases. On multivariate analysis, maternal age and previous cesarean section were shown to be independently associated with an increased risk of severe maternal outcome (near miss or death).Conclusion Severe maternal outcome due to antepartum and intrapartum hemorrhage was highly prevalent among Brazilian women. Certain risk factors, maternal age and previous cesarean delivery in particular, were associated with the occurrence of bleeding.

Prevalência de sobrepeso e obesidade e fatores associados em adolescentes na região centro-oeste do estado de São Paulo (SP, Brasil)

Objetivou-se avaliar a relação entre o Índice de Massa Corporal (IMC) e o índice CPOD em 207 adolescentes de 12 anos, de 8 escolas públicas e particulares da região centro-oeste do estado de São Paulo. A amostra foi constituída por 380 adolescentes aos 12 anos, de ambos os gêneros, sendo examinados 207. Utilizou-se o índice CPOD, IMC para peso, medida de estatura, e aplicou-se questionário sobre hábitos alimentares, características antropométricas e atividade física. Quanto ao peso corpóreo, 55,93% apresentaram normal (G4), 35,59% de baixo peso (G3), 8,47% de pré-obesos (G2), nas escolas particulares. Nas públicas, 52,03% apresentaram normal, baixo peso 41,22%, pré-obesos 4,73% e obesos (G1) 2,03%; não houve diferença significativa (p=0,45). Verificou-se que o CPOD nas escolas públicas foi 2,16 e nas particulares, 0,23 (p<0,05), sendo que 39,2% das crianças estavam livres de cárie nas municipais e nas particulares, 88,1%. Não houve correlação do maior IMC com o incremento de CPOD. Houve correlação negativa entre condições socioeconômicas e índice de cárie dentária. Concluiu-se que os grupos pré-obesos e obesos, embora houvesse maior frequência de ingestão de alimentos, não apresentaram correlação com o incremento de cárie dentária, mas as condições socioeconômicas foram determinantes para essa ocorrência.

Angioleiomioma de cavidade nasal: relato de um caso e revisão de literatura

Leiomioma de cavidade nasal e seios paranasais é raro. Ele constitui menos de 1% de todos os leiomiomas do corpo humano. Isto se deve à escassez de células musculares no nariz. Estas neoplasias podem ser classificadas em três grupos: leiomioma, angiomioma e leiomioma epitelióide. Somente 15 casos de angiomioma foram encontrados na literatura. O tratamento de escolha é a excisão cirúrgica. Um novo caso e a revisão da literatura são apresentados.