Navegando por Palavras-chave "Short stature"
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- ItemAcesso aberto (Open Access)Absence of mutations in Pax6 gene in three cases of Morning Glory syndrome associated with isolated growth hormone deficiency(Sociedade Brasileira de Endocrinologia e Metabologia, 2008-11-01) Guerra-Junior, Gil; Spinola-Castro, Angela Maria [UNIFESP]; Siviero-Miachon, Adriana A. [UNIFESP]; Nogueira, Roberto Gomes [UNIFESP]; Lemos-Marini, Sofia Helena Valente de; D'Souza-li, Lilia Freire Rodrigues; Silva, Priscila Cristina da; França, Emerson Salvador S.; Soardi, Fernanda Caroline; Mello, Maricilda Palandi de [UNIFESP]; Universidade Estadual de Campinas (UNICAMP); Universidade Federal de São Paulo (UNIFESP)Morning glory syndrome (MGS) is a congenital optic disc dysplasia often associated with craniofacial anomalies, especially basal encephalocele and hypopituitarism. Clinical signs are varied and often occult. The PAX6 gene is involved in ocular morphogenesis and is expressed in numerous ocular tissues during development especially in the developing central nervous system. The aim of the present study is to evaluate PAX6 in MGS associated with isolated growth hormone deficiency. Three pre-pubertal males (A, B and C) with MGS and short stature due to growth hormone deficiency, treated with recombinant human growth hormone with limited response, were reported. Two of them had basal encephalocele. Coding and non-coding sequences corresponding of PAX6 different transcripts were analyzed by direct sequencing. Nucleotide variations causing putative aminoacid change were not observed. Patient A presented the new IVS2+9G>A transition, whereas patients A and C were heterozygous for known single nucleotide polymorphisms (SNP) within the intron 4. In addition, two SNP heterozygoses were observed for patient C in both intron 9 and 13. Sequencing also revealed several nucleotide variations in patient B. Two heterozygoses for known polymorphisms were identified along with a novel C>A nucleotide change in intron 4. This patient also presented a low number on the TG repeat in intron 9 and a new IVS11+33A>T transversion. Gene regulation and transcription of PAX6 are complex processes; there are two major protein isoforms, PAX6(-5a) and PAX6(+5a), and nine transcripts described. Furthermore, extra transcription regulatory elements have been postulated within PAX6 introns. Considering that neither population distributions on PAX6 polymorphism nor their linkeages with diseases have been reported, a functional effect due to alterations described here cannot be discarded.
- ItemSomente MetadadadosIncreased blood pressure in adolescents of low socioeconomic status with short stature(Springer, 2003-05-01) Fernandes, Maria Teresa Bechere [UNIFESP]; Sesso, Ricardo de Castro Cintra [UNIFESP]; Martins, Paula Andrea [UNIFESP]; Sawaya, Ana Lydia [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)The nutritional programming hypothesis, which has been studied since the 1970s, proposes that intrauterine undernutrition continuing during the first years of life causes permanent metabolic disorders. These alterations are amplified with time, depending on the quality of the diet and on environmental factors. the aim of this cross-sectional study was to detect blood pressure alterations in teenagers with nutritional deficit. the study sample consisted of 53 adolescents living in shantytowns of São Paulo City, Brazil; 27 boys and 26 girls ranging in age from 11 to 16 years were studied. Weight, height, skinfold thickness, and blood pressure were measured during a medical visit. Anthropometric data were compared with the reference values of the National Center for Health Statistics and Frisancho, and arterial pressure data were compared with the reference values of the 1996 Task Force. the adolescents studied are among the 10% poorest stratum of the Brazilian population, with a per capita income of U.S. $45/month. the anthropometric results revealed nutritional deficiencies for the entire sample. the major marker of malnutrition was height, with a mean height deficit of 7 cm among boys and of 5 cm among girls. the overall prevalence of arterial (diastolic) hypertension for the sample was 21% (95% confidence interval 10%-32%). No significant difference was observed between sexes. the prevalence of cases with a systolic or diastolic arterial pressure above the 90th percentile, adjusted for height, was 51% (n=27) (95% confidence interval 37%-65%); 6% (n=3) of these individuals had simultaneous systolic and diastolic arterial hypertension. in conclusion, the prevalence of arterial hypertension was elevated among malnourished adolescents. the mechanisms involved in the genesis of hypertension seem to be related to malnutrition during an early phase of life, supporting the programming hypothesis.
- ItemAcesso aberto (Open Access)Retardo de desenvolvimento associado à Osteopetrose(Sociedade Brasileira de Endocrinologia e Metabologia, 1998-12-01) Khawali, Cristina [UNIFESP]; Rezende, Carmen A.c. [UNIFESP]; Lazaretti-Castro, Marise [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)Osteopetrosis is a rare genetic disease, caracterized by marked radiodensity of the bones throughout the skeleton. Heterogenous clinical, biochemical, and histological features suggest that the disease is multigenic. We will describe a case with severe growth delay and bone fractures. EDO, 19 years and 9 months old, that came to us due to a skeleton alteration and growth failure. His puberty begun at 18 years old, with slow progress. Six months ago, after falling from his own high he broke his right forearm. He was 141,5 em high and weighted 38,5 kg, with bone age at 13 years and 6 months. The skeleton examination showed hyperdensity of the bones with typical alteration observed in osteopetrosis with signs of fractures in ulna and femur both on the right. The bone density were on lumbar spine and femural neck respectively 10,65 and 15,55 SD higher than the average for his own age. The dosages of the hormones showed total testosterone levels below normal for chronological age (245 ng/dl); normal basal and stimulated gonadotropins levels, GH responsive to hypoglycemia and insulin-like growth factor-I (IGF-I) level low for puberal stage. The plasma calcium (Ca), phosphorus (P), alcaline phosphatase (FA) and intact parathormone (PTH) levels were on the normal range. The incidence of osteopetrosis in our country Is very low and its association with short stature and delayed puberty is well known. The dysplasic bone associated to chronic anemia and repeated infections present mainly in the severe forms of the disease are probably the major causes for the delayed development.
- ItemSomente MetadadadosVoice Quality in Short Stature With and Without GH Deficiency(Elsevier B.V., 2012-09-01) Valenca, Eugenia H. O.; Souza, Anita H. O.; Oliveira, Alaide H. A.; Valenca, Silvio L.; Salvatori, Roberto; Goncalves, Maria I. R. [UNIFESP]; Oliveira-Neto, Luiz A.; Barros, Alana D.; Nascimento, Ualisson N.; Oliveira, Carla R. P.; Cardoso, Daniela F.; Melo, Valdinaldo A.; Aguiar-Oliveira, Manuel H.; Univ Fed Sergipe; Johns Hopkins Univ; Universidade Federal de São Paulo (UNIFESP)Objective. the aim of this study was to analyze the individual impact of short stature (SS) or untreated isolated growth hormone deficiency (IGHD) on voice quality and the influence of IGHD on voice aging.Methods. A cross-sectional study was carried out on 73 adults: 33 IGHD, 10 SS, and 30 normal controls (CO), by evaluating vocal perception using Voice-Related Quality-of-Life (V-RQOL) scores and fundamental frequency (f(0)). Analysis of variance with Bonferroni post-test was used to compare groups, and the Student t test was used to verify the influence of aging.Results. Stature of the SS and IGHD groups was similarly reduced in comparison to CO. Cephalic perimeter (CP) in SS males was larger than CO (P < 0.05), and this was larger than in IGHD (P < 0.0001). CP was similar in SS and CO females, and both were larger than in IGHD (P < 0.0001). V-RQOL scores were lower in IGHD than in SS and CO. f(0) (Hz) was similar in IGHD females and SS and higher than in CO (P < 0.05). f(0) of IGHD males was higher than in SS (P = 0.01) and CO (P = 0.001). IGHD abolished the effect of aging on f(0) exhibited by CO.Conclusions. Lower vocal perception and higher f(0) were found in IGHD in comparison to CO in both genders; in comparison to SS, higher f(0) was only found in IGHD males. Because SS males have higher CP than IGHD, this suggests that CP and craniofacial growth can influence voice in IGHD. Finally, IGHD seems to abolish the effects of aging on voice.