A cross-sectional study was carried out to characterize the alterations in the resting metabolic ... more 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. Resting metabolic rate was measured using indirect calorimetry. Socioeconomic data was collected during home visits by administration of a questionnaire. 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$107,14; DP=US$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...
Brazilian journal of medical and biological research = Revista brasileira de pesquisas médicas e biológicas / Sociedade Brasileira de Biofísica ... [et al.], 1987
Kainic acid (KA) is a powerful convulsant and neurotoxic agent. In the present paper the acute an... more Kainic acid (KA) is a powerful convulsant and neurotoxic agent. In the present paper the acute and long term effects of intrahippocampal KA administration on estrous cycle and on serum concentrations of progesterone were studied in adult female rats. Following KA injection, 3 distinct periods were observed: 1) acute period (24-48 h), 2) silent period (21-30 days), and 3) chronic period, characterized by the appearance of spontaneous recurrent seizures (30-45 days). KA administration did not affect progesterone levels during the acute period. In contrast, during the silent period, KA-treated animals exhibited irregular estrous cycling and decreased progesterone levels. These results are of interest in view of a possible link between epileptic phenomena and hormone secretion.
Individuals with Turner syndrome (TS) clearly have an increased risk for autoimmune diseases. Rec... more Individuals with Turner syndrome (TS) clearly have an increased risk for autoimmune diseases. Recently, an allelic variation (C1858T) of the PTPN22 gene was revealed to be associated with the development of autoimmunity. Thus, the aim of this study was to determine the frequency of the PTPN22 C1858T polymorphism in women with Turner syndrome (TS) compared to controls. Case-control study comprises 142 women with TS (cases) and 180 healthy and fertile women without a history of autoimmune disease (controls). Detection of the PTPN22 C1858T polymorphism (rs2476601) was performed by TaqMan real-time PCR. The chi-square test was used to compare allele and genotype frequencies between groups and to estimate the Hardy-Weinberg equilibrium. All P-values were two-tailed, and 95% confidence intervals (CIs) were calculated. A P-value &lt;0.05 was considered statistically significant. Genotypes CC, CT and TT of the PTPN22 C1858T polymorphism presented frequencies of, respectively, 67.6%, 28.2% and 4.2% in the TS, and 82.8%, 16.1% and 1.1% in the control group (P = 0.0043). Alleles C and T were present in, respectively, 81.7% and 18.3% of the patients with TS (P = 0.001, OR = 2.22, 95% CI = 1.39-3.54) and in 90.8% and 9.2%, respectively, of the controls. The data suggest that in Brazilian patients with TS, the PTPN22 C1858T polymorphism may be an important genetic factor predisposing to autoimmune disease risk.
Changes in weight/height ratio, delayed sexual maturation, hypogonadism and impaired fertility ha... more Changes in weight/height ratio, delayed sexual maturation, hypogonadism and impaired fertility have been demonstrated in sickle cell disease (SCD). This study aimed to evaluate the clinical and laboratory views of the Leydig cells function after stimulation with hCG in adults with sickle cell disease. We studied 15 patients with SCD (18 to 40 years; median=27 years old), fourteen homozygous S, and one with SC disease. The control group, composed by adult males, was divided into two groups: I - 10 relatives (18-39 years, median=26 years) with the same socioeconomic level of the patients, and II - 9 normal individuals (23-28, median=31 years) randomly chosen. Clinically it was observed a slight degree of malnutrition, important puberty delay, rarefaction of chest, underarm and pubic hair, and important reduction of the testis and penis size, featuring a mild hypogonadism in patients with SCD. The hormonal level assessment of testosterone at baseline and at 24, 48 and 72 h after hCG st...
We measured progesterone and estradiol levels from birth to the beginning of adult life in 10 Tho... more We measured progesterone and estradiol levels from birth to the beginning of adult life in 10 Thoroughbred fillies from the Equilia Stud Farm in Avaré SP, Brasil. The animals were measured and weighed monthly for the determination of body development and of a possible correlation between the rate of weight and height gain and the onset of detectable sex hormone levels. Jugular blood was collected twice a week and stored at -20 degrees C until assay of progesterone by a solid phase RIA with a sensitivity of 0.32 nmol L and of estradiol by liquid phase RIA adapted to low levels (3.67 pmol L ). The fillies were born with high serum levels of both hormones, which fell to undetectable levels by the first week of life. A variation in growth rate was observed, with the highest levels occurring from birth to the 3rd month of life, followed by a reduction until 15 mo of life, when fast growth was resumed. The monthly weight gain was 1.5% when the fillies reached puberty and 5.4% during the next month, (P &lt; 0.05, Friedman test). During this second period of accelerated growth after the beginning of progesterone production at detectable levels (above 0.318 nmol L ), the parameters of skeletal growth did not differ (P &gt; 0.05). The month of onset of puberty was the month of lowest weight gain in the life of the fillies, and it coincided with the highest insolation period. In conclusion, horses, like all other developed vertebrates, have a double pattern of development, with the acceleration observed at puberty depending on sex steroids, which in turn coincides with the highest insolation period. Gonadal activity characterized by serum progesterone levels was low from birth to the onset of puberty. After puberty the progesterone cycles were similar to those of adult animals with a mature hypothalamic-gonadal axis.
The Journal of Clinical Endocrinology & Metabolism, 1994
Serum levels of prostate-specific antigen (PSA) were measured in a group of 132 normal boys distr... more Serum levels of prostate-specific antigen (PSA) were measured in a group of 132 normal boys distributed in stages 1-5 of puberty. A highly sensitive (0.005 ng/mL) immunofluorometric assay was developed and used in the study. PSA levels were generally undetectable in state I and rose sharply from stage II to III and from stage III to IV. A significant positive correlation was found between PSA and testosterone levels, PSA and LH levels, PSA and age, PSA and testicular volume, as well as PSA and pubertal stage. Our findings indicate that PSA levels measured with highly sensitive assays can be of utility in the hormonal evaluation of puberty in boys.
Individuals with Turner syndrome (TS) have increased risk for autoimmune diseases, especially thy... more Individuals with Turner syndrome (TS) have increased risk for autoimmune diseases, especially thyroid abnormalities. The function of the vitamin D receptor (VDR) gene is influenced by several genetic polymorphisms which are associated with a susceptibility to a range of autoimmune diseases. Thus, we have hypothesized a possible relationship between thyroid abnormalities and VDR polymorphisms (ApaI/G1025-49T, TaqI/ T1056C, FokI/T2C and BsmI G1024 + 283A) in TS patients. A casecontrol study was performed comprising 101 Brazilian women with TS and a control group consisting of 133 healthy fertile women without a history of autoimmune diseases. In TS group, 21.8% had Hashimoto's thyroiditis. Detection of VDR polymorphisms was performed using TaqMan system by real-time PCR. The χ 2 was used to compare allele and genotype frequencies between groups. Combined genotypes of VDR gene polymorphisms were assessed by the haplotype analysis. A p value <0.05 was considered statistically significant. Relatively similar VDR polymorphisms genotype and allelic frequencies in cases and controls were found, even when only considering the patients with thyroid abnormalities. Haplotype analysis showed that none of the VDR haplotypes were associated to thyroid diseases in TS patients. In conclusion, the results showed no association between VDR gene polymorphisms and thyroid abnormalities in Brazilian TS patients tested.
OCT4 gonadal gene expression related to the presence of Y-chromosome sequences in Turner syndrome... more OCT4 gonadal gene expression related to the presence of Y-chromosome sequences in Turner syndrome To show that in the dysgenetic gonads of 104 Turner syndrome patients no significant difference was found regarding the expression of the genes DAX1, FOG2, GATA4, OCT4, SF1, SRY, TSPY, WT1, and STRA8 compared with controls, except for genes OCT4, SRY, and TSPY in both gonads of a patient whose chromosomal constitution was 45,X/45,X,add(15)(p11). The expression analysis of genes OCT4, SRY, and TSPY in the dysgenetic gonads of Turner syndrome patients may allow introducing modifications in the microenvironment that could contributed to a malignant transformation process. (Fertil Steril Ò 2010;94:2347-9. Ó2010 by American Society for Reproductive Medicine.
Objective: To determine the clinical implications of the presence of a Y chromosome in Turner's s... more Objective: To determine the clinical implications of the presence of a Y chromosome in Turner's syndrome patients with karyotype abnormalities. Design: To investigate the presence of Y-chromosome sequences in different tissue samples. Setting: Endocrinology outpatient clinic of a federal university in Brazil. Patient(s): Five Turner's syndrome patients with karyotype abnormalities such as marker chromosomes, additional material, or ring chromosomes. Intervention(s): Peripheral blood, oral epithelial cells, and hair root samples were collected. Main Outcome Measure(s): The SRY gene and the DYZ3 repeat region were amplified by polymerase chain reaction followed by gel electrophoresis mobility of amplified genomic DNA, and ultraviolet visualization. Prophylactic gonadectomy was offered to the Y-positive patients. Result(s): The analysis of the different tissues revealed that three of the five patients studied presented Y-chromosome mosaicism. These three patients underwent prophylactic gonadectomy, and in one of them, the histopathologic study of the gonads disclosed hilus cell hyperplasia and stromal luteoma with contralateral nodular hyperthecosis. Conclusion(s): A systematic search for Y-chromosome mosaicism in Turner's syndrome patients is justified by the risk of developing gonadal tumors or androgen-producing lesions.
Evidence-Based Complementary and Alternative Medicine, 2013
Familial caregivers of patients with Alzheimer's disease exhibit reduced quality of life and ... more Familial caregivers of patients with Alzheimer's disease exhibit reduced quality of life and increased stress levels. The aim of this study was to investigate the effects of an 8-week yoga and compassion meditation program on the perceived stress, anxiety, depression, and salivary cortisol levels in familial caregivers. A total of 46 volunteers were randomly assigned to participate in a stress-reduction program for a 2-month period (yoga and compassion meditation program—YCMP group) (n=25) or an untreated group for the same period of time (control group) (n=21). The levels of stress, anxiety, depression, and morning salivary cortisol of the participants were measured before and after intervention. The groups were initially homogeneous; however, after intervention, the groups diverged significantly. The YCMP group exhibited a reduction of the stress (P<0.05), anxiety (P<0.000001), and depression (P<0.00001) levels, as well as a reduction in the concentration of salivary ...
Objective: Previous studies have shown that stunting increases the risk of obesity in developing ... more 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.
Men die of coronary artery disease (CAD) more often than women. There is evidence that testostero... more 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. Case-control study. Men (aged 40-70) submitted to coronary angiography. A 70% occlusion of at least one major coronary artery defined the cases; subjects with ≤ 50% occlusion constituted the control group. Blood samples were collected for total testosterone (TT), oestradiol, luteinizing hormone, follicle-stimulating hormone, sex hormone-binding globulin, lipid profile and albumin measurements. Bioavailable and free testosterone, free androgen index (FAI) and free oestrogen index (FEI) were calculated. Oestradiol and TT levels were examined as terciles, based on the whole study population. Of the 140 patients included, 72 were cases and 68 were controls. The baseline characteristics of the two groups were similar, except for the older age and lower LDL-C in the cases. Oestradiol and FEI but not total, bioavailable and free testosterone and FAI correlated positively with CAD. After adjustments for potential confounders, oestradiol remained statistically significant. The prevalence of CAD was significantly higher in the 3rd than in the 1st tercile of oestradiol. In this study, men with CAD had higher oestradiol and FEI levels. Additional studies are needed to clarify the direction of causality and possible underlying mechanisms.
OBJECTIVE The frequency of gonadoblastoma is high in patients with Turner's syndrome bearing cell... more OBJECTIVE The frequency of gonadoblastoma is high in patients with Turner's syndrome bearing cells with Y or partial Y-chromosome. About 60% of patients with Turner's syndrome have a 45,X karyotype. In 30% of them a Y-sequence is disclosed by DNA analysis. To identify patients at risk of developing gonadoblastoma, a PCR based assay with SRY, ZFY and DYZ 3 specific primers was carried out to detect different Y-sequences in the DNA of peripheral lymphocytes from patients with Turner's syndrome. DESIGN AND PATIENTS Peripheral blood karyotypes from 36 patients with Turner's syndrome were studied. Patients with proven Y-chromosomal material were excluded. Genomic DNA was extracted from peripheral blood. SRY and ZFY genes and DYZ 3 repetion of Y-chromosome were amplified by PCR. Patients with clinical signs of hyperandrogenism or with positive Y-sequences by PCR underwent gonadectomy. The gonadal tissues were examined for Y-sequences using PCR, morphology and immunohistochemical study. MEASUREMENTS Turner's syndrome and signs of hyperandrogenism were evaluated both clinically and through laboratory tests. Haematoxylin and eosin staining was employed in gonadal morphology studies. The presence of testosterone was detected by immunohistochemistry using a monoclonal antibody. RESULTS Two patients who had Y-positive blood samples and three hyperandrogenic (2 hirsutes, 1 virilized) Y-negatives underwent gonadectomy. PCR was carried out on their gonadal tissue. The tissue from the two patients without hyperandrogenism was Y-positive. The gonadal tissue from the three hyperandrogenics was Y-negative. Gonadal morphology disclosed hilus cell hyperplasia in the 3 hyperandrogenic Y-negatives and in one Y-positive patient; stromal luteoma and hyperthecosis in the virilized patient, cystadenofibroma in one hirsute patient and gonadoblastoma in one Y-positive. Testosterone was detected immunohistochemically in the hilus cell hyperplasia, stromal luteoma and hyperthecosis found in the hyperandrogenic patients. CONCLUSIONS The molecular study was sensitive and useful in the evaluation of patients at risk of developing gonadoblastoma. Other nontumour, gonadotrophin-dependent and Y-independent mechanisms which deserve the same medical approach may be involved in the genesis of hyperandrogenic signs in Turner's syndrome.
Study objective: To evaluate the influence of oral anabolic steroids on body mass index (BMI), le... more Study objective: To evaluate the influence of oral anabolic steroids on body mass index (BMI), lean body mass, anthropometric measures, respiratory muscle strength, and functional exercise capacity among subjects with COPD. Design: Prospective, randomized, controlled, double-blind study. Setting: Pulmonary rehabilitation program. Participants: Twenty-three undernourished male COPD patients in whom BMI was below 20 kg/m2 and the maximal inspiratory pressure (PImax) was below 60% of the predicted value. Intervention: The study group received 250 mg of testosterone IM at baseline and 12 mg of oral stanozolol a day for 27 weeks, during which time the control group received placebo. Both groups participated in inspiratory muscle exercises during weeks 9 to 27 and cycle ergometer exercises during weeks 18 to 27. Measurements and results: Seventeen of 23 subjects completed the study. Weight increased in nine of 10 subjects who received anabolic steroids (mean, +1.8±0.5 kg; p<0.05), whereas the control group lost weight (.0.4±0.2 kg). The study group's increase in BMI differed significantly from that of the control group from weeks 3 to 27 (p<0.05). Lean body mass increased in the study group at weeks 9 and 18 (p<0.05). Arm muscle circumference and thigh circumference also differed between groups (p<0.05). Changes in PImax (study group, 41%; control group, 20%) were not statistically significant. No changes in the 6-min walk distance or in maximal exercise capacity were identified in either group. Conclusion: The administration of oral anabolic steroids for 27 weeks to malnourished male subjects with COPD was free of clinical or biochemical side effects. It was associated with increases in BMI, lean body mass, and anthropometric measures of arm and thigh circumference, with no significant changes in endurance exercise capacity.
Brazilian Journal of Medical and Biological Research, 2001
The anthropometric status and metabolic control of 51 recently diagnosed Brazilian schoolchildren... more The anthropometric status and metabolic control of 51 recently diagnosed Brazilian schoolchildren with type 1 diabetes (DM1), during the first 5 years of the disease, were compared with those of normal children (60 girls and 132 boys) belonging to the same environmental condition and pubertal stage. Metabolic control was evaluated on the basis of fasting plasma glucose (FPG) and HbA1c levels. The criteria of the National Center for Health Statistics were used for anthropometric evaluation. FPG (205 ± 51 mg/dl for girls vs 200 ± 34 mg/dl for boys) and % above upper normal limit of median HbA1c (1.8% for girls vs 2.5% for boys with diabetes) were not significantly different during follow-up. The Z-score of the last height evaluation was lower in the girls group (-0.14 vs-0.53, P<0.05). By forward stepwise analysis, the Z-score of the initial height was statistically significant as a determinant factor for height at the end of the study in both girls and boys with DM1. The Z-score of weight at last evaluation was not different from that at diagnosis in either sex. However, analysis according to pubertal stage showed a tendency to a weight increase in the girls. The weight recovery and height loss in girls with DM1 follows the trend of the normal Brazilian population.
Retained foetal membranes in cattle is one of the most common complications associated to the red... more Retained foetal membranes in cattle is one of the most common complications associated to the reduction in milk yield and impaired fertility in dairy cattle. In order to determine some endocrine mechanisms controlling parturition and delivery of foetal membranes, plasma concentrations of steroids and prostanoids were determined in 20 healthy Holstein cows. Samples were taken within the interval of 5 days pre-parturition to 12 h after calving. Progesterone (P 4) levels were similar in cows with (PR) and without (NPR) placental retention. While the estradiol-17 (E 2) peak at parturition was lower in PR than in NPR cows, cortisol levels were greater in PR cows 12 and 24 h pre-parturition. The Prostaglandin F 2␣ metabolite (PGFM) levels were higher at parturition in NPR compared with the PR group, but 12 h later, these levels in the PR group increased so that concentrations were greater as compared with NPR cows. The Prostaglandin E 2 metabolite (PGEM), 24, 48 and 72 h pre-parturition, were higher in PR cows. However, the PGFM:PGEM ratio was greater in cows up NPR at all time when included, indicating the importance of higher levels of Prostaglandin F 2␣ (PGF 2␣) than Prostaglandin E 2 (PGE 2) for normal placental delivery. In conclusion, placental retention was related to both estrogen and PGF 2␣ deficiency, which may be a consequence of metabolic stress leading to PGE 2 and maternal cortisol synthesis before parturition.
We report on a girl who, despite her 45,X/46,X,der(Y) karyotype, showed no signs of virilization ... more We report on a girl who, despite her 45,X/46,X,der(Y) karyotype, showed no signs of virilization or physical signs of the Ullrich-Turner syndrome (UTS), except for a reduced growth rate. After prophylactic gonadectomy due to the risk of developing gonadoblastoma, the gonads and peripheral blood samples were analyzed by fluorescence in situ hybridization (FISH) and polymerase chain reaction (PCR) to detect Y-specific sequences. These analyses allowed us to characterize the Y-derived chromosome as being an isodicentric Yp chromosome (idic(Yp)) and showed a pronounced difference in the distribution of the 45,X/ 46,X,idic(Yp) mosaicism between the two analyzed tissues. It was shown that, although in peripheral blood almost all cells (97.5%) belonged to the idic(Yp) line with a duplicated SRY gene, this did not determine any degree of male sexual differentiation in the patient, as in the gonads the predominant cell line was 45,X (60%).
A cross-sectional study was carried out to characterize the alterations in the resting metabolic ... more 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. Resting metabolic rate was measured using indirect calorimetry. Socioeconomic data was collected during home visits by administration of a questionnaire. 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$107,14; DP=US$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...
Brazilian journal of medical and biological research = Revista brasileira de pesquisas médicas e biológicas / Sociedade Brasileira de Biofísica ... [et al.], 1987
Kainic acid (KA) is a powerful convulsant and neurotoxic agent. In the present paper the acute an... more Kainic acid (KA) is a powerful convulsant and neurotoxic agent. In the present paper the acute and long term effects of intrahippocampal KA administration on estrous cycle and on serum concentrations of progesterone were studied in adult female rats. Following KA injection, 3 distinct periods were observed: 1) acute period (24-48 h), 2) silent period (21-30 days), and 3) chronic period, characterized by the appearance of spontaneous recurrent seizures (30-45 days). KA administration did not affect progesterone levels during the acute period. In contrast, during the silent period, KA-treated animals exhibited irregular estrous cycling and decreased progesterone levels. These results are of interest in view of a possible link between epileptic phenomena and hormone secretion.
Individuals with Turner syndrome (TS) clearly have an increased risk for autoimmune diseases. Rec... more Individuals with Turner syndrome (TS) clearly have an increased risk for autoimmune diseases. Recently, an allelic variation (C1858T) of the PTPN22 gene was revealed to be associated with the development of autoimmunity. Thus, the aim of this study was to determine the frequency of the PTPN22 C1858T polymorphism in women with Turner syndrome (TS) compared to controls. Case-control study comprises 142 women with TS (cases) and 180 healthy and fertile women without a history of autoimmune disease (controls). Detection of the PTPN22 C1858T polymorphism (rs2476601) was performed by TaqMan real-time PCR. The chi-square test was used to compare allele and genotype frequencies between groups and to estimate the Hardy-Weinberg equilibrium. All P-values were two-tailed, and 95% confidence intervals (CIs) were calculated. A P-value &lt;0.05 was considered statistically significant. Genotypes CC, CT and TT of the PTPN22 C1858T polymorphism presented frequencies of, respectively, 67.6%, 28.2% and 4.2% in the TS, and 82.8%, 16.1% and 1.1% in the control group (P = 0.0043). Alleles C and T were present in, respectively, 81.7% and 18.3% of the patients with TS (P = 0.001, OR = 2.22, 95% CI = 1.39-3.54) and in 90.8% and 9.2%, respectively, of the controls. The data suggest that in Brazilian patients with TS, the PTPN22 C1858T polymorphism may be an important genetic factor predisposing to autoimmune disease risk.
Changes in weight/height ratio, delayed sexual maturation, hypogonadism and impaired fertility ha... more Changes in weight/height ratio, delayed sexual maturation, hypogonadism and impaired fertility have been demonstrated in sickle cell disease (SCD). This study aimed to evaluate the clinical and laboratory views of the Leydig cells function after stimulation with hCG in adults with sickle cell disease. We studied 15 patients with SCD (18 to 40 years; median=27 years old), fourteen homozygous S, and one with SC disease. The control group, composed by adult males, was divided into two groups: I - 10 relatives (18-39 years, median=26 years) with the same socioeconomic level of the patients, and II - 9 normal individuals (23-28, median=31 years) randomly chosen. Clinically it was observed a slight degree of malnutrition, important puberty delay, rarefaction of chest, underarm and pubic hair, and important reduction of the testis and penis size, featuring a mild hypogonadism in patients with SCD. The hormonal level assessment of testosterone at baseline and at 24, 48 and 72 h after hCG st...
We measured progesterone and estradiol levels from birth to the beginning of adult life in 10 Tho... more We measured progesterone and estradiol levels from birth to the beginning of adult life in 10 Thoroughbred fillies from the Equilia Stud Farm in Avaré SP, Brasil. The animals were measured and weighed monthly for the determination of body development and of a possible correlation between the rate of weight and height gain and the onset of detectable sex hormone levels. Jugular blood was collected twice a week and stored at -20 degrees C until assay of progesterone by a solid phase RIA with a sensitivity of 0.32 nmol L and of estradiol by liquid phase RIA adapted to low levels (3.67 pmol L ). The fillies were born with high serum levels of both hormones, which fell to undetectable levels by the first week of life. A variation in growth rate was observed, with the highest levels occurring from birth to the 3rd month of life, followed by a reduction until 15 mo of life, when fast growth was resumed. The monthly weight gain was 1.5% when the fillies reached puberty and 5.4% during the next month, (P &lt; 0.05, Friedman test). During this second period of accelerated growth after the beginning of progesterone production at detectable levels (above 0.318 nmol L ), the parameters of skeletal growth did not differ (P &gt; 0.05). The month of onset of puberty was the month of lowest weight gain in the life of the fillies, and it coincided with the highest insolation period. In conclusion, horses, like all other developed vertebrates, have a double pattern of development, with the acceleration observed at puberty depending on sex steroids, which in turn coincides with the highest insolation period. Gonadal activity characterized by serum progesterone levels was low from birth to the onset of puberty. After puberty the progesterone cycles were similar to those of adult animals with a mature hypothalamic-gonadal axis.
The Journal of Clinical Endocrinology & Metabolism, 1994
Serum levels of prostate-specific antigen (PSA) were measured in a group of 132 normal boys distr... more Serum levels of prostate-specific antigen (PSA) were measured in a group of 132 normal boys distributed in stages 1-5 of puberty. A highly sensitive (0.005 ng/mL) immunofluorometric assay was developed and used in the study. PSA levels were generally undetectable in state I and rose sharply from stage II to III and from stage III to IV. A significant positive correlation was found between PSA and testosterone levels, PSA and LH levels, PSA and age, PSA and testicular volume, as well as PSA and pubertal stage. Our findings indicate that PSA levels measured with highly sensitive assays can be of utility in the hormonal evaluation of puberty in boys.
Individuals with Turner syndrome (TS) have increased risk for autoimmune diseases, especially thy... more Individuals with Turner syndrome (TS) have increased risk for autoimmune diseases, especially thyroid abnormalities. The function of the vitamin D receptor (VDR) gene is influenced by several genetic polymorphisms which are associated with a susceptibility to a range of autoimmune diseases. Thus, we have hypothesized a possible relationship between thyroid abnormalities and VDR polymorphisms (ApaI/G1025-49T, TaqI/ T1056C, FokI/T2C and BsmI G1024 + 283A) in TS patients. A casecontrol study was performed comprising 101 Brazilian women with TS and a control group consisting of 133 healthy fertile women without a history of autoimmune diseases. In TS group, 21.8% had Hashimoto's thyroiditis. Detection of VDR polymorphisms was performed using TaqMan system by real-time PCR. The χ 2 was used to compare allele and genotype frequencies between groups. Combined genotypes of VDR gene polymorphisms were assessed by the haplotype analysis. A p value <0.05 was considered statistically significant. Relatively similar VDR polymorphisms genotype and allelic frequencies in cases and controls were found, even when only considering the patients with thyroid abnormalities. Haplotype analysis showed that none of the VDR haplotypes were associated to thyroid diseases in TS patients. In conclusion, the results showed no association between VDR gene polymorphisms and thyroid abnormalities in Brazilian TS patients tested.
OCT4 gonadal gene expression related to the presence of Y-chromosome sequences in Turner syndrome... more OCT4 gonadal gene expression related to the presence of Y-chromosome sequences in Turner syndrome To show that in the dysgenetic gonads of 104 Turner syndrome patients no significant difference was found regarding the expression of the genes DAX1, FOG2, GATA4, OCT4, SF1, SRY, TSPY, WT1, and STRA8 compared with controls, except for genes OCT4, SRY, and TSPY in both gonads of a patient whose chromosomal constitution was 45,X/45,X,add(15)(p11). The expression analysis of genes OCT4, SRY, and TSPY in the dysgenetic gonads of Turner syndrome patients may allow introducing modifications in the microenvironment that could contributed to a malignant transformation process. (Fertil Steril Ò 2010;94:2347-9. Ó2010 by American Society for Reproductive Medicine.
Objective: To determine the clinical implications of the presence of a Y chromosome in Turner's s... more Objective: To determine the clinical implications of the presence of a Y chromosome in Turner's syndrome patients with karyotype abnormalities. Design: To investigate the presence of Y-chromosome sequences in different tissue samples. Setting: Endocrinology outpatient clinic of a federal university in Brazil. Patient(s): Five Turner's syndrome patients with karyotype abnormalities such as marker chromosomes, additional material, or ring chromosomes. Intervention(s): Peripheral blood, oral epithelial cells, and hair root samples were collected. Main Outcome Measure(s): The SRY gene and the DYZ3 repeat region were amplified by polymerase chain reaction followed by gel electrophoresis mobility of amplified genomic DNA, and ultraviolet visualization. Prophylactic gonadectomy was offered to the Y-positive patients. Result(s): The analysis of the different tissues revealed that three of the five patients studied presented Y-chromosome mosaicism. These three patients underwent prophylactic gonadectomy, and in one of them, the histopathologic study of the gonads disclosed hilus cell hyperplasia and stromal luteoma with contralateral nodular hyperthecosis. Conclusion(s): A systematic search for Y-chromosome mosaicism in Turner's syndrome patients is justified by the risk of developing gonadal tumors or androgen-producing lesions.
Evidence-Based Complementary and Alternative Medicine, 2013
Familial caregivers of patients with Alzheimer's disease exhibit reduced quality of life and ... more Familial caregivers of patients with Alzheimer's disease exhibit reduced quality of life and increased stress levels. The aim of this study was to investigate the effects of an 8-week yoga and compassion meditation program on the perceived stress, anxiety, depression, and salivary cortisol levels in familial caregivers. A total of 46 volunteers were randomly assigned to participate in a stress-reduction program for a 2-month period (yoga and compassion meditation program—YCMP group) (n=25) or an untreated group for the same period of time (control group) (n=21). The levels of stress, anxiety, depression, and morning salivary cortisol of the participants were measured before and after intervention. The groups were initially homogeneous; however, after intervention, the groups diverged significantly. The YCMP group exhibited a reduction of the stress (P<0.05), anxiety (P<0.000001), and depression (P<0.00001) levels, as well as a reduction in the concentration of salivary ...
Objective: Previous studies have shown that stunting increases the risk of obesity in developing ... more 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.
Men die of coronary artery disease (CAD) more often than women. There is evidence that testostero... more 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. Case-control study. Men (aged 40-70) submitted to coronary angiography. A 70% occlusion of at least one major coronary artery defined the cases; subjects with ≤ 50% occlusion constituted the control group. Blood samples were collected for total testosterone (TT), oestradiol, luteinizing hormone, follicle-stimulating hormone, sex hormone-binding globulin, lipid profile and albumin measurements. Bioavailable and free testosterone, free androgen index (FAI) and free oestrogen index (FEI) were calculated. Oestradiol and TT levels were examined as terciles, based on the whole study population. Of the 140 patients included, 72 were cases and 68 were controls. The baseline characteristics of the two groups were similar, except for the older age and lower LDL-C in the cases. Oestradiol and FEI but not total, bioavailable and free testosterone and FAI correlated positively with CAD. After adjustments for potential confounders, oestradiol remained statistically significant. The prevalence of CAD was significantly higher in the 3rd than in the 1st tercile of oestradiol. In this study, men with CAD had higher oestradiol and FEI levels. Additional studies are needed to clarify the direction of causality and possible underlying mechanisms.
OBJECTIVE The frequency of gonadoblastoma is high in patients with Turner's syndrome bearing cell... more OBJECTIVE The frequency of gonadoblastoma is high in patients with Turner's syndrome bearing cells with Y or partial Y-chromosome. About 60% of patients with Turner's syndrome have a 45,X karyotype. In 30% of them a Y-sequence is disclosed by DNA analysis. To identify patients at risk of developing gonadoblastoma, a PCR based assay with SRY, ZFY and DYZ 3 specific primers was carried out to detect different Y-sequences in the DNA of peripheral lymphocytes from patients with Turner's syndrome. DESIGN AND PATIENTS Peripheral blood karyotypes from 36 patients with Turner's syndrome were studied. Patients with proven Y-chromosomal material were excluded. Genomic DNA was extracted from peripheral blood. SRY and ZFY genes and DYZ 3 repetion of Y-chromosome were amplified by PCR. Patients with clinical signs of hyperandrogenism or with positive Y-sequences by PCR underwent gonadectomy. The gonadal tissues were examined for Y-sequences using PCR, morphology and immunohistochemical study. MEASUREMENTS Turner's syndrome and signs of hyperandrogenism were evaluated both clinically and through laboratory tests. Haematoxylin and eosin staining was employed in gonadal morphology studies. The presence of testosterone was detected by immunohistochemistry using a monoclonal antibody. RESULTS Two patients who had Y-positive blood samples and three hyperandrogenic (2 hirsutes, 1 virilized) Y-negatives underwent gonadectomy. PCR was carried out on their gonadal tissue. The tissue from the two patients without hyperandrogenism was Y-positive. The gonadal tissue from the three hyperandrogenics was Y-negative. Gonadal morphology disclosed hilus cell hyperplasia in the 3 hyperandrogenic Y-negatives and in one Y-positive patient; stromal luteoma and hyperthecosis in the virilized patient, cystadenofibroma in one hirsute patient and gonadoblastoma in one Y-positive. Testosterone was detected immunohistochemically in the hilus cell hyperplasia, stromal luteoma and hyperthecosis found in the hyperandrogenic patients. CONCLUSIONS The molecular study was sensitive and useful in the evaluation of patients at risk of developing gonadoblastoma. Other nontumour, gonadotrophin-dependent and Y-independent mechanisms which deserve the same medical approach may be involved in the genesis of hyperandrogenic signs in Turner's syndrome.
Study objective: To evaluate the influence of oral anabolic steroids on body mass index (BMI), le... more Study objective: To evaluate the influence of oral anabolic steroids on body mass index (BMI), lean body mass, anthropometric measures, respiratory muscle strength, and functional exercise capacity among subjects with COPD. Design: Prospective, randomized, controlled, double-blind study. Setting: Pulmonary rehabilitation program. Participants: Twenty-three undernourished male COPD patients in whom BMI was below 20 kg/m2 and the maximal inspiratory pressure (PImax) was below 60% of the predicted value. Intervention: The study group received 250 mg of testosterone IM at baseline and 12 mg of oral stanozolol a day for 27 weeks, during which time the control group received placebo. Both groups participated in inspiratory muscle exercises during weeks 9 to 27 and cycle ergometer exercises during weeks 18 to 27. Measurements and results: Seventeen of 23 subjects completed the study. Weight increased in nine of 10 subjects who received anabolic steroids (mean, +1.8±0.5 kg; p<0.05), whereas the control group lost weight (.0.4±0.2 kg). The study group's increase in BMI differed significantly from that of the control group from weeks 3 to 27 (p<0.05). Lean body mass increased in the study group at weeks 9 and 18 (p<0.05). Arm muscle circumference and thigh circumference also differed between groups (p<0.05). Changes in PImax (study group, 41%; control group, 20%) were not statistically significant. No changes in the 6-min walk distance or in maximal exercise capacity were identified in either group. Conclusion: The administration of oral anabolic steroids for 27 weeks to malnourished male subjects with COPD was free of clinical or biochemical side effects. It was associated with increases in BMI, lean body mass, and anthropometric measures of arm and thigh circumference, with no significant changes in endurance exercise capacity.
Brazilian Journal of Medical and Biological Research, 2001
The anthropometric status and metabolic control of 51 recently diagnosed Brazilian schoolchildren... more The anthropometric status and metabolic control of 51 recently diagnosed Brazilian schoolchildren with type 1 diabetes (DM1), during the first 5 years of the disease, were compared with those of normal children (60 girls and 132 boys) belonging to the same environmental condition and pubertal stage. Metabolic control was evaluated on the basis of fasting plasma glucose (FPG) and HbA1c levels. The criteria of the National Center for Health Statistics were used for anthropometric evaluation. FPG (205 ± 51 mg/dl for girls vs 200 ± 34 mg/dl for boys) and % above upper normal limit of median HbA1c (1.8% for girls vs 2.5% for boys with diabetes) were not significantly different during follow-up. The Z-score of the last height evaluation was lower in the girls group (-0.14 vs-0.53, P<0.05). By forward stepwise analysis, the Z-score of the initial height was statistically significant as a determinant factor for height at the end of the study in both girls and boys with DM1. The Z-score of weight at last evaluation was not different from that at diagnosis in either sex. However, analysis according to pubertal stage showed a tendency to a weight increase in the girls. The weight recovery and height loss in girls with DM1 follows the trend of the normal Brazilian population.
Retained foetal membranes in cattle is one of the most common complications associated to the red... more Retained foetal membranes in cattle is one of the most common complications associated to the reduction in milk yield and impaired fertility in dairy cattle. In order to determine some endocrine mechanisms controlling parturition and delivery of foetal membranes, plasma concentrations of steroids and prostanoids were determined in 20 healthy Holstein cows. Samples were taken within the interval of 5 days pre-parturition to 12 h after calving. Progesterone (P 4) levels were similar in cows with (PR) and without (NPR) placental retention. While the estradiol-17 (E 2) peak at parturition was lower in PR than in NPR cows, cortisol levels were greater in PR cows 12 and 24 h pre-parturition. The Prostaglandin F 2␣ metabolite (PGFM) levels were higher at parturition in NPR compared with the PR group, but 12 h later, these levels in the PR group increased so that concentrations were greater as compared with NPR cows. The Prostaglandin E 2 metabolite (PGEM), 24, 48 and 72 h pre-parturition, were higher in PR cows. However, the PGFM:PGEM ratio was greater in cows up NPR at all time when included, indicating the importance of higher levels of Prostaglandin F 2␣ (PGF 2␣) than Prostaglandin E 2 (PGE 2) for normal placental delivery. In conclusion, placental retention was related to both estrogen and PGF 2␣ deficiency, which may be a consequence of metabolic stress leading to PGE 2 and maternal cortisol synthesis before parturition.
We report on a girl who, despite her 45,X/46,X,der(Y) karyotype, showed no signs of virilization ... more We report on a girl who, despite her 45,X/46,X,der(Y) karyotype, showed no signs of virilization or physical signs of the Ullrich-Turner syndrome (UTS), except for a reduced growth rate. After prophylactic gonadectomy due to the risk of developing gonadoblastoma, the gonads and peripheral blood samples were analyzed by fluorescence in situ hybridization (FISH) and polymerase chain reaction (PCR) to detect Y-specific sequences. These analyses allowed us to characterize the Y-derived chromosome as being an isodicentric Yp chromosome (idic(Yp)) and showed a pronounced difference in the distribution of the 45,X/ 46,X,idic(Yp) mosaicism between the two analyzed tissues. It was shown that, although in peripheral blood almost all cells (97.5%) belonged to the idic(Yp) line with a duplicated SRY gene, this did not determine any degree of male sexual differentiation in the patient, as in the gonads the predominant cell line was 45,X (60%).
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