Ieda Therezinha do Nascimento Verreschi

Y chromosome in Turner syndrome: review of the literature

Turner syndrome (TS) is one of the most common types of aneuploidy among humans, and is present in 1:2000 newborns with female phenotype. Cytogenetically, the syndrome is characterized by sex chromosome monosomy (45,X), which is present in 50-60% of the cases. The other cases present mosaicism, with a 45,X cell line accompanied by one or more other cell lines with a complete or structurally abnormal X or Y chromosome. The presence of Y-chromosome material in patients with dysgenetic gonads increases the risk of gonadal tumors, especially gonadoblastoma. The greatest concern is the high risk of developing gonadoblastoma or other tumors and virilization during puberty if chromosome Y-specific sequences are present. The role of the Y chromosome in human oncogenesis is still controversial. Even though gonadoblastoma is a benign tumor, it can undergo transformation into invasive dysgerminoma in 60% of the cases, and also into other, malignant forms of germ cell tumors. Although some authors have questioned the high incidence of gonadoblastoma (around 30%), the risk of developing any kind of gonadal lesion, whether tumoral or not, justifies investigation of Y-chromosome sequences by means of the polymerase chain reaction (PCR), a highly sensitive, low-cost and easy-to-perform technique. In conclusion, mosaicism of both the X and the Y chromosome is a common finding in TS, and detection of Y-chromosome-specific sequences in patients, regardless of their karyotype, is necessary in order to prevent the development of gonadal lesions.

A obesidade e sua associação com os demais fatores de risco cardiovascular em escolares de Itapetininga, Brasil

FUNDAMENTO: A escassez de dados sobre a obesidade infantil e o risco cardiovascular no Brasil. OBJETIVO: Determinar a prevalencia de hipertensao, dislipidemia, obesidade e suas correlacoes em uma amostra de escolares de Itapetininga-SP. METODOS: Corte transversal com coleta sistematizada de dados antropometricos (peso, altura, cintura, indice de massa corporal e niveis pressoricos) e dosagens de glicose, colesterol (total e fracoes), acido urico e apolipoproteina A e B, em uma amostra aleatoria, representativa de escolares da rede publica de Itapetininga-SP. Analise dos dados utilizando parâmetros populacionais das curvas do NCHS(2000), categorias de pressao arterial do NHBPEP(2004) e categorias dos niveis sericos de colesterol propostos pela AHA para criancas e adolescentes(2003). RESULTADOS: Um total de 494 criancas e adolescentes participaram do estudo. Dos participantes, 11,7% apresentaram HAS, 51% apresentaram aumento do colesterol total, 40,5% apresentaram aumento do LDL-colesterol, 8,5% apresentaram aumento dos triglicerides e 6,1% tiveram valores baixos de HDL-colesterol. As medias (±desvio padrao) do CT, HDL-colesterol, LDL-colesterol e triglicerides foram respectivamente 172,1(27,9), 48,1(10,0), 105,7(23,1) e 90,9(43,8). A obesidade e o sobrepeso foram detectados em 12,8% e 9,7% da amostra, sendo que a obesidade determinou uma maior chance de se detectar a dislipidemia e a hipertensao quando comparada com os demais grupos. CONCLUSAO: Este estudo fornece subsidios para a hipotese de uma distinta prevalencia de excesso de peso entre escolares da rede publica das regioes nordeste e sudeste, maior nesta ultima. Adicionalmente, demonstra uma associacao da obesidade com a dislipidemia e a hipertensao naquele grupo. Diante da incipiencia de dados no Brasil sobre a questao estudada, o nosso trabalho fornece dados importantes para futuras comparacoes.BACKGROUND Paucity of data on childhood obesity and cardiovascular risk in Brazil. OBJECTIVE To determine the prevalence of hypertension, dyslipidemia, obesity and their correlations in a sample of school children in Itapetininga, State of Sao Paulo, Brazil. METHODS Cross-sectional study with systematic collection of anthropometric data (weight, height, waist circumference, BMI and blood pressure levels) and determination of glucose, total cholesterol, LDL, HDL, uric acid, and apolipoproteins A and B in a random sample representative of school children from the public education system in Itapetininga, State of Sao Paulo. For data analysis, we used population parameters from the NCHS curves (2000), blood pressure categories from NHBPEP (2004), and the serum cholesterol levels proposed by the AHA for children and adolescents (2003). RESULTS A total of 494 children and adolescents participated in the study. Of these, 11.7% had HBP, 51% increased total cholesterol, 40.5% increased LDL-cholesterol, 8.5% increased triglycerides, and 6.1% low HDL-cholesterol levels. Mean (+/- standard deviation) TC, HDL-cholesterol, LDL-cholesterol and triglycerides were 172.1(27.9), 48.1(10.0), 105.7(23.1) and 90.9(43.8), respectively. Obesity and overweight were detected in 12.8% and 9.7% of the sample, respectively. Individuals of the obese group had a greater chance of presenting with dyslipidemia and hypertension in comparison with those of the other groups. CONCLUSION This study supports the hypothesis of different prevalences of excess weight among school children from the public education system of the northeastern and southeastern regions of Brazil, with higher rates in the latter. Additionally, it demonstrates an association of obesity with dyslipidemia and hypertension in that group. In light of the paucity of Brazilian data on this issue, our study provides important data for further comparisons.

Lower resting metabolic rate and higher velocity of weight gain in a prospective study of stunted vs nonstunted girls living in the shantytowns of São Paulo, Brazil.

Objective:Previous studies have shown that stunting increases the risk of obesity in developing countries, particularly among girls and women, but the underlying reasons are not known. This study aimed to investigate the relationship between stunting, weight gain, and resting metabolic rate.Design and subjects:A prospective study was conducted over 36 months with girls from shantytowns in São Paulo, Brazil. A total of 15 stunted girls (S) were compared with 15 nonstunted (N) ones of similar weight for height ratio.Interventions:Resting metabolic rate was measured using indirect calorimetry, and the socioeconomic status was determined by interviews in the household. In addition, body composition was measured by skinfold thickness, while the growth rate was calculated dividing the change in weight and the change in height by the follow-up period.Results:The results of the present study, when combined, revealed that the S group had a lower resting metabolic rate throughout the follow-up period with the differences being significant at 24 and 36 months of follow-up, associated with an increase in the rate of weight gain and a decrease in lean mass, when compared to the N group.Conclusions:These changes are known to be risk factors for obesity and may help to explain the particularly higher prevalence of obesity in women in urban areas of developing countries.

Prevalence of the polymorphism MTHFR A1298C and not MTHFR C677T is related to chromosomal aneuploidy in Brazilian Turner Syndrome patients

BACKGROUND Dysfunctions in the folate metabolism can result in DNA hypomethylation and abnormal chromosome segregation. Two common polymorphisms of this enzyme (C677T and A1298C) reduce its activity, but when associated with aneuploidy studies the results are conflicting. The objective of the present study is to analyze the MTHFR gene polymorphisms in women with Turner Syndrome and in a control group, correlating the findings to the chromosomal aneuploidy. METHODS The study comprised 140 patients with Turner Syndrome, of which 36 with chromosome mosaicism and 104 non-mosaics, and a control group of 209 fertile and healthy women without a history of any offspring with aneuploidy. Polymorphisms C677T and A1298C were studied by RFLP-PCR and the results were statistically analyzed. RESULTS The frequency of genotypes MTHFR 677CC, 677CT and 677TT in the patients with Turner Syndrome and chromosome mosaicism was, respectively, 58.3%, 38.9% and 2.8%. Among the patients with non-mosaic Turner Syndrome, 47.1% presented genotype 677CC, 45.2% genotype 677CT, and 7.7% genotype 677TT. Among the 209 individuals of the control group, genotypes 677CC, 677CT and 677TT were found at the following frequencies: 48.3%, 42.1% and 9.6%, respectively. As for polymorphism A1298C, the patients with Turner Syndrome and chromosome mosaicism presented genotypes 1298AA, 1298AC and 1298CC at the following frequencies: 58.3%, 27.8% and 13.9%, respectively. Among the non-mosaic Turner Syndrome patients, genotype 1298AA was found in 36.5%, genotype 1298AC in 39.4%, and genotype 1298CC in 22.1%. In the control group, genotypes 1298AA, 1298AC and 1298CC were present at the following frequencies: 52.6%, 40.7% and 6.7%, respectively. CONCLUSION No correlation was observed between the MTHFR gene polymorphism 677 and chromosomal aneuploidy in the Turner Syndrome patients. However, the MTHFR gene polymorphism at position 1298, mainly genotype 1298CC that reduces the enzyme efficiency, was more frequent in the group of Turner Syndrome patients, suggesting its involvement in mechanisms related to chromosomal imbalances.

Influência das condições socioeconômicas nas alterações nutricionais e na taxa de metabolismo de repouso em crianças escolares moradoras em favelas no município de São Paulo

PURPOSE A cross-sectional study was carried out to characterize the alterations in the resting metabolic rate (RMR), and socioeconomic conditions of 15 stunted (DP= height/age < 95% and 110% (3) weight/height >90%) and 15 nonstunted (EU= height/age > 95% and 110% (3) weight/height >90%) school girls living in shantytowns of São Paulo. METHODS Resting metabolic rate was measured using indirect calorimetry. Socioeconomic data was collected during home visits by administration of a questionnaire. RESULTS The mildly stunted group had a higher RMR when expressed as Kcal/kg body weight (EU= 40,5 Kcal/kg/day; DP=44,4 Kcal/kg/day; p<0.05) and lean body mass (EU= 49, 2 Kcal/kg/day; DP=52,5 Kcal/kg/day; p<0.05). Stunting was associated with maternal illiteracy (EU= 13,3%; DP=57,1%; p<0.05), income per capita (EU=US

Disgenesias gonadais e tumores: aspectos genéticos e clínicos

107,14; DP=US

Endogenous oestradiol but not testosterone is related to coronary artery disease in men

54,40; p< 0.05), number of parasites per child (EU=0; DP=1; p<0.05), birth order (EU=2; DP=4; p< 0.05), and number of siblings (EU=4; DP=6; p<0.01). Stunting was best predicted by income per capita and maternal illiteracy by using multiple logistic regression. CONCLUSIONS Although the two groups had normal weight/height, the group with mild stunting showed socioeconomic and metabolic alterations, typical of a malnourished condition.Universidade Federal de Sao Paulo (UNIFESP) Escola Paulista de Medicina Departamento de Fisiologia

Salivary cortisol as an indicator of adrenocortical function in healthy infants, using massage therapy.

Gonadal dysgenesis comprises a clinical spectrum of anomalies in patients with female, ambiguous or male phenotype, absent or impaired puberty and karyotype with or without Y chromosome and/or chromosome markers. Although Y-specific sequences are seldom cytogenetically evident, dysgenetic gonads are potentially prone to developing tumors. Gonadoblastoma, a mixed germ cell and sex-cord cells tumor with variable degree of focal calcification, is the most harmful due to its frequency. Other gonadal tumor, malign or not, also occur in gonadal dysgenesis. As they are not metastatic tumors and may be eradicated by selective excisions, the importance of detecting Y-sequences by molecular sensitized techniques is stressed in order to indicate prophylactic gonadectomy.

PTPN22 Polymorphism is Related to Autoimmune Disease Risk in Patients with Turner Syndrome

Objectives  Men die of coronary artery disease (CAD) more often than women. There is evidence that testosterone either is neutral or has a beneficial effect on male cardiovascular disease. The role of oestrogens in male CAD has been less studied. This study was carried out with the purpose of evaluating the relationship between sex hormone levels and CAD.

Testosterona sérica e doença cardiovascular em homens

CONTEXT AND OBJECTIVE The evaluation of adrenocortical function with the use of therapeutic massage has been little studied in Brazil. The purpose of this study was to evaluate the salivary cortisol levels before and after Shantala massage therapy on healthy infants. DESIGN AND SETTING Prospective case series, in a public nursery, in São Paulo. METHODS Saliva was obtained from 11 infants at the times of 8:00-9:00 a.m. and 4:00-5:00 p.m. in a nursery and 9:00-10:00 p.m. at home. They received a 15-minute therapeutic massage on two consecutive days, and saliva was collected before and after the massage. The procedure was repeated after a one-week interval. Cortisol values (intra-assay < 5%; inter-assay < 10%) at different times of the day were compared by ANOVA. RESULTS The mean cortisol values (nmol/l +/- SD) on the first day were: morning (M) = 14.1 +/- 5.7, afternoon (A) = 8.3 +/- 2.7, night (N) = 3.3 +/- 1.1; after two consecutive days of therapeutic massage: M = 22.3 +/- 13.5, A = 13.4 +/- 6.0, N = 5.8 +/- 3.5; after a one-week interval: M = 15.8 +/- 7.7, A = 14.3 +/- 7.7, N = 3.4 +/- 2.0. CONCLUSION There was a modification in the salivary cortisol values following massage, thus reflecting possible adaptation of the hypothalamic-pituitary-adrenal axis.