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Search Results: 1 - 10 of 427086 matches for " Sofia H. V. de;Baptista "
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Normaliza??o da estatura e excesso de adiposidade corporal em crian?as com a forma perdedora de sal da deficiência da 21-hidroxilase
Mendes-dos-Santos, Carolina T;Lemos-Marini, Sofia H. V. de;Baptista, Maria Tereza M;Guerra-Junior, Gil;De-Mello, Maricilda P;Paulino, Maria Fernanda V. M;Morcillo, André M;
Jornal de Pediatria , 2011, DOI: 10.2223/JPED.2095
Abstract: objective: to evaluate growth and body composition of patients with the salt wasting form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency and to compare them with healthy children. methods: twenty-one prepubertal patients (eight boys and 13 girls) between 2.1 and 10.2 years and 67 prepubertal healthy controls (36 boys and 31 girls) between 1.2 and 11.7 years were included. weight, height, upper-arm circumference, skinfolds, body composition determined by bioimpedance, and bone age were measured. the following data were obtained from the medical records: parents' height, serum levels of 17-hydroxyprogesterone and δ4-androstenedione, prescribed hydrocortisone doses, weight and length at birth, in the beginning of the treatment, and at 2 years. results: patients had lower weight and length z scores at the first appointment compared with the same data at birth, showing recovery after the beginning of the treatment without advanced bone age. mean height z score was higher in controls (0.28±0.86) than in patients (-0.61±0.99, p < 0.001); this difference disappeared when the patients' height was adjusted to their bone age (0.33±1.68, p = 0.912). patients had higher body mass index (p < 0.001), fat mass (p < 0.001), and fat mass index (p < 0.001) than controls. there was no difference in the skinfolds between the two groups (p = 0.157). conclusions: patients had growth recovery with mean height similar to the general population; however, they had higher body fat, which seems to be visceral, since there was no difference between the skinfolds of both groups.
Síndrome de Turner: um diagnóstico pediátrico frequentemente realizado por n?o pediatras
Carvalho, Annelise B.;Guerra-Junior, Gil;Baptista, Maria Tereza M.;Marques-de-Faria, Antonia Paula;Lemos-Marini, Sofia H. V. de;Maciel-Guerra, Andréa T.;
Jornal de Pediatria , 2010, DOI: 10.1590/S0021-75572010000200007
Abstract: objective: to analyze the clinical features of patients with suspected diagnosis of turner syndrome (ts) in a reference service. methods: retrospective analysis of 425 patients: data pertaining to age, height and pubertal stage at diagnosis, as well as the specialty of the physician who referred the patient were collected. patients with and without ts were compared, as well as those with ts according to specialty of the physician; the correlation between age and height at diagnosis was analyzed. results: ts diagnosis was made in 36.9% of the cases with a mean age of 12.0 years, and height z score = -3.09; pubertal delay was found in 71.4% of the 63 patients aged more than 13 years. when compared to the other patients, girls with ts had a higher height deficit and higher frequency of pubertal delay. ts patients referred by pediatricians were significantly younger (9.3 years vs. 15.4 years), but their height and frequency of pubertal delay were similar to those referred by non-pediatricians. there was a significant negative linear correlation between age and height in the total amount of patients with ts, but not among those referred by non-pediatricians. conclusions: mean age at ts diagnosis is still higher than that observed in developed countries, and the presence of spontaneous pubertal signs and/or less pronounced growth deficit in some cases may contribute to delayed clinical suspicion of ts. information required for early ts diagnosis must be spread among pediatricians and non-pediatricians.
Crescimento de pacientes com hiperplasia congênita das supra-renais, forma perdedora de sal, nos dois primeiros anos de vida
Mendes-dos-Santos, Carolina T.;Lemos-Marini, Sofia H. V. de;Baptista, Maria Tereza M.;Guerra-Junior, Gil;De-Mello, Maricilda P.;Morcillo, André M.;
Revista Brasileira de Saúde Materno Infantil , 2009, DOI: 10.1590/S1519-38292009000400005
Abstract: objectives: to assess the growth and nutritional recovery of patients with the classical salt-wasting form of congenital adrenal hyperplasia in the first two years of life. methods: z scores for weight and height were calculated for 21 patients at birth, on the occasion of the first medical consultation and at one and two years of age. the concentrations of 17-hydroxyprogesterone, androstenedione and the doses of hydrocortisone prescribed at the first medical concentrations up to the age of two years were determined (at one and two years of age respectively). results: the mean age for the first medical consultation was 36.7 days. the z score for weight at birth was -0.23±1.4; on the occasion of the first consulta tion -2.31±1.3; at the age of one year -1.43±1.6 and at the age of two years -0.77± 1.3. the z score for height at birth was -0.69±2.3; on the occasion of the first consultation -1.87±1.7; at one year of age 1.68±1.1 and at two years -1.07±1.0. the difference between the scores at two years of age and on the occasion of the first medical consultation was 1.54±1.7 for weight and 0.80±1.6 for height. the mean dosage of hydrocortisone prescribed was 21.3 and 19.9 mg/m2/day for periods 1 and 2 and the concentrations (ng/dl) of 17-hydroxyprogesterone and androstenedione were 9.1 and 0.14 for period 1 and 4.4 and 0.27 for period 2. conclusions: nutritional recovery was observed to occur on treatment and, at two years of age, weight and height are normal, although below the average for the population at large.
Avalia??o da resistência insulínica e do perfil lipídico na síndrome de turner
Armani, Maria C. de A.;Baldin, Alexandre Duarte;Lemos-Marini, Sofia H.V.;Baptista, Maria Tereza M.;Maciel-Guerra, Andréa T.;Guerra-Junior, Gil;
Arquivos Brasileiros de Endocrinologia & Metabologia , 2005, DOI: 10.1590/S0004-27302005000200015
Abstract: objective: to evaluate the presence of insulin resistance (ir) and changes in lipid profile in turner syndrome (ts), and to check the influence of age, karyotype, systemic arterial hypertension (sah), height, weight, body mass index (bmi), and pubertal development. patients and methods: a transversal study of 35 ts patients, confirmed with karyotype (5 to 43 years), without previous use of anabolic steroid or hgh, with evaluation of blood pressure, pubertal development, anthropometric data, measurement of waist (w), hip (h), w to h ratio, total cholesterol, hdl, triglycerides (tgc), ldl, insulin and glucose. homa and quicki indexes were calculated, as well as glucose to insulin ratio (g/i). data were examined by the mann-whitney and spearman tests. results: ten patients were >20 years. seventeen had a 45,x karyotype and 6 structural aberrations; differences of the variables in relation to the karyotypes were not observed; 15 were nonpubertal and 20 pubertal; tgc and homa were significantly higher in puberty, while g/i was lower. seven had normal height, 8 had bmi >25kg/m2 (6 between 25 and 30, and 2 >30), and 19 w/h >0.85. cholesterol levels were 180 ± 42mg% (4 >240); hdl 57 ± 16mg%; ldl 99 ± 34mg%; tgc 108 ± 96mg% (2 >200); homa 1.01 ± 0.71; quicki 0.4 ± 0.04 and g/i 23.5 ± 12.1 (2 <7.0). conclusions: changes were observed in lipid profile independent of age, karyotype, sah and obesity, but associated with ir. the frequency of ir was lower than described in literature, and seems to be directly linked to chronological age, obesity and estrogen therapy.
Evidências de doen?a tireóidea auto-imune cr?nica subclínica em portadoras da Síndrome de Turner
Medeiros, Carla C.M.;Lemos-Marini, Sofia H.V. de;Brícola Filho, Milton;Camargo, Edwaldo E.;Santos, Allan O.;Magna, Luis A.;Guerra Júnior, Gil;Baptista, Maria Tereza M.;Maciel-Guerra, Andréa T.;
Arquivos Brasileiros de Endocrinologia & Metabologia , 2007, DOI: 10.1590/S0004-27302007000300007
Abstract: patients with turner syndrome (ts) frequently exhibit transient, recurrent and asymptomatic variations of tsh and/or thyroid hormones (th). this work was carried out to evaluate thyroid function and structure in patients with ts who had had such variations in hormone concentrations. our sample comprised 24 patients, 17 less than 20-years old. evaluation included serum levels of tsh, free t4, total t3, tpo and tg autoantibodies, thyroid ultrasound (us) and scintigraphy with 99mtc-pertechnetate. thirteen patients had abnormal tsh and/or th levels; 23 exhibited us features compatible with chronic thyroid disorder, particularly thyromegaly (established according to volume expected for stature) and heterogeneous echogenicity. uptake was normal in 21 cases and tracer distribution was homogeneous in 22. the finding of abnormal hormone concentrations was independent of age, length of time since the first similar finding, thyroid autoantibodies, number of abnormalities at us and abnormal scintigraphic findings. patients aged more than 20 years had higher frequency of thyroid antibodies and heterogeneous echogenicity, and thyroid volume was significantly correlated to length of time since detection of the first hormone variation, indicating progressive thyroid disease. these results suggest that subclinical thyroid dysfunction in ts is due to chronic autoimmune thyroid disease.
Estudo multicêntrico de pacientes brasileiros com deficiência da 21-hidroxilase: correla??o do genótipo com o fenótipo
Bachega, Tania A.S.S.;Billerbeck, Ana Elisa C.;Parente, érica B.;Lemos-Marini, Sofia H.V.;Baptista, Maria Tereza M.;Mello, Maricilda P.;Guerra Jr., Gil;Kuperman, Hilton;Setian, Nuvarte;Damiani, Durval;Torres, Natália;Castro, Margaret de;Mendon?a, Berenice B. de;
Arquivos Brasileiros de Endocrinologia & Metabologia , 2004, DOI: 10.1590/S0004-27302004000500016
Abstract: we analyzed the clinical and molecular data of 205 patients with the three different clinical forms of 21-hydroxylase deficiency, in whom the clinical and molecular diagnosis were already defined. the most frequent mutations were i2 splice in the salt wasting form, i172n in the simple virilizing and v281l in the nonclassical form, presenting similar frequencies as those observed in other populations. we found a lower frequency of 21-hydroxylase gene deletion, similar to that previously identified in argentinean and mexican populations. five new mutations were described in our population: g424s, h28+c, ins 1003^1004 a, r408c and ivs2-2a>g. the genotype was classified in three groups according to the impairment of enzymatic activity observed in vitro, group a: 0-2%, group b: 3-7% and group c: >20%. group a mutations correlated with the salt wasting form, the group b with simple virilizing form and group c with the non classical form. the severity of genotype showed a positive correlation with higher 17oh-progesterone and testosterone levels. the i2 splice mutation in homo or hemizygosis confers classical form phenotype with both salt wasting and simple virilizing forms, precluding the prediction of the clinical form through genotype in pre and neonatal diagnosis. the good genotype-phenotype correlation in patients with 21-hydroxylase deficiency shows the usefulness of genotype to predict the clinical form for genetic counseling, prenatal diagnosis and to confirm neonatal screening diagnosis, except in cases with i2 splice mutation.
Densidade Mineral óssea: Estudo Transversal em Pacientes com Síndrome de Turner
Costa Aline M.G.,Lemos-Marini Sofia H.V.,Baptista Maria T.M.,Santos Allan O.
Arquivos Brasileiros de Endocrinologia & Metabologia , 2002,
Abstract: A síndrome de Turner (ST) caracteriza-se pela perda parcial ou total de um dos cromossomos X, hipogonadismo hipergonadotrófico e baixa estatura. A maioria dos estudos de densidade mineral óssea (DMO) em ST atribuem a osteoporose à ausência do desenvolvimento puberal e ao hipoestrogenismo, enquanto o envolvimento das altera es ósseas intrínsecas à ST permanece obscuro. O objetivo deste estudo foi verificar a associa o entre a DMO com as variáveis como idade cronológica e óssea, peso, altura, cariótipo, doen as associadas e reposi o estrogênica em pacientes com ST. Realizou-se um estudo transversal da DMO areal de L2-L4 por DEXA em 34 pacientes com diagnóstico citogenético de ST. Encontrou-se diferen a estatística em rela o à idade (as pacientes com z DMO < -2,5 eram as de idade mais avan ada), à altura (as pacientes com z DMO < -2,5 eram as mais altas) e a reposi o estrogênica (o z DMO foi menor nas pacientes que necessitaram de reposi o hormonal). Sugere-se, portanto, que a idade e a reposi o estrogênica podem ser fatores associados à baixa DMO na ST.
Frequency of 677C -> T and 1298A -> C polymorphisms in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene in Turner syndrome individuals
Santos, Kelly;Lemos-Marini, Sofia H.V.;Baptista, Maria T.M.;Bonadia, Luciana Cardoso;Pinto Júnior, Walter;Bertuzzo, Carmen Sílvia;
Genetics and Molecular Biology , 2006, DOI: 10.1590/S1415-47572006000100008
Abstract: turner syndrome (ts) is an interesting model for investigating the association between methylenetetrahydrofolate reductase (mthfr) gene polymorphisms and non-disjunction because of the high frequency of chromosomal mosaicism among patients with this syndrome. we determined the frequencies of mthfr 677c ? t and 1298a ? c polymorphic mutations in 49 patients with ts and 200 control individuals. the frequency of the 677c ? t allele was 0.39 for patients and 0.29 for controls while that of the 1298a ? c allele was 0.28 for patients and 0.25 for controls. genotype frequencies were shown to be different in patients and controls (c2 = 12.143; p = 0.033), and this was attributable to the higher frequency of the c677c ? t /677c ? t genotype among ts patients. in homozygotes, this mutation might have an effect on somatic chromosome disjunction by decreasing mthfr activity.
Hiperplasia congênita das supra-renais por deficiência da 21- hidroxilase: altura final de 27 pacientes com a forma clássica
Lemos-Marini, Sofia H.V.;Guerra-Júnior, Gil;Morcillo, André M.;Baptista, Maria Tereza M.;Silva, Luciana O.;Maciel-Guerra, Andréa T.;
Arquivos Brasileiros de Endocrinologia & Metabologia , 2005, DOI: 10.1590/S0004-27302005000600008
Abstract: objective: to determine final height (fh) in congenital adrenal hyperplasia (cah) patients and investigate conditions allowing better height outcome. methodology: 13 salt-wasting (sw) and 14 simple virilizing (sv) patients were studied. fh and target height (th) were transformed into standard deviation score (z). data were analyzed according to sex, clinical form, age at treatment onset and length of treatment before attaining fh. results: zfh (n= 27) was -1.57 ± 1.01. fh (-1.50 ± 1.03) was below th (-0.78 ± 0.84) (n= 25, p< 0.001). fh has not differed according to sex, clinical form and age at therapy onset although there was a trend towards better fh in sw patients and in early treated cases; there was significant difference (p= 0.018) between patients treated for less than 5 years (-2.49 ± 1.03) and those accompanied longer than 10 years (-1.21 ± 0.88) before attaining fh. conclusions: there was a fh impairment and adult height improvement seems to depend mainly on early diagnosis and treatment.
Hiperplasia adrenal congênita por deficiência da 21-hidroxilase, forma clássica: estudo da freqüência em famílias de indivíduos afetados
Bento, Lucas Ricci;Ramos, Clarissa Cerchi A.;Gon?alves, Ezequiel Moreira;Mello, Maricilda Palandi de;Baptista, Maria Tereza M.;Lemos-Marini, Sofia Helena V. de;Guerra-Júnior, Gil;
Revista Paulista de Pediatria , 2007, DOI: 10.1590/S0103-05822007000300002
Abstract: objective: to analyze the frequency of affected patients, rate of parental consanguinity and clinical forms of the disease, according to sex in families with congenital adrenal hyperplasia (cah) due to 21-hydroxylase deficiency, classic form (cah-21-ohd-c). methods: 58 families with 79 patients (67 alive and 12 dead) with non-affected parents and at least one affected live patient with an established diagnosis of the disease by molecular analysis were studied. the frequency of affected siblings was evaluated according to haldane and hogben techniques by truncated selection. data about parental consanguinity, frequency of cyp21a2 homozygosis gene mutation, clinical form of the disease and sex distribution were also evaluated. results: ten families had parental history of consanguinity and other five had homozygosis in the molecular analysis. the frequency of affected children in the kindred was 23.5%, similar to the 25% expected, but the sample showed a heterogeneous distribution. among the clinical forms, 56 (70%) patients had the salt wasting form (25 males and 31 females) and 23 (30%) the simple virilizing one (10 males and 13 females) without difference in sex distribution. conclusions: these data confirm that cah-21-ohd-c has an autosomal recessive monogenic inheritance, with a high rate of consanguinity, similar distribution in both sexes, but it has a heterogeneous distribution of cases among the kindred with predominance of the salt wasting form.
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