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1.
Eur J Endocrinol ; 165(2): 233-41, 2011 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-21646290

RESUMEN

BACKGROUND: A limited number of mutations in the GH secretagogue receptor gene (GHSR) have been described in patients with short stature. Objective To analyze GHSR in idiopathic short stature (ISS) children including a subgroup of constitutional delay of growth and puberty (CDGP) patients. SUBJECTS AND METHODS: The GHSR coding region was directly sequenced in 96 independent patients with ISS, 31 of them with CDGP, in 150 adults, and in 197 children with normal stature. The pharmacological consequences of GHSR non-synonymous variations were established using in vitro cell-based assays. RESULTS: Five different heterozygous point variations in GHSR were identified (c.-6 G>C, c.251G>T (p.Ser84Ile), c.505G>A (p.Ala169Thr), c.545 T>C (p.Val182Ala), and c.1072G>A (p.Ala358Thr)), all in patients with CDGP. Neither these allelic variants nor any other mutations were found in 694 alleles from controls. Functional studies revealed that two of these variations (p.Ser84Ile and p.Val182Ala) result in a decrease in basal activity that was in part explained by a reduction in cell surface expression. The p.Ser84Ile mutation was also associated with a defect in ghrelin potency. These mutations were identified in two female patients with CDGP (at the age of 13 years, their height SDS were -2.4 and -2.3). Both patients had normal progression of puberty and reached normal adult height (height SDS of -0.7 and -1.4) without treatment. CONCLUSION: This is the first report of GHSR mutations in patients with CDGP. Our data raise the intriguing possibility that abnormalities in ghrelin receptor function may influence the phenotype of individuals with CDGP.


Asunto(s)
Trastornos del Crecimiento/genética , Mutación Missense , Pubertad Tardía/genética , Receptores de Ghrelina/genética , Adolescente , Adulto , Constitución Corporal/genética , Constitución Corporal/fisiología , Células Cultivadas , Niño , Estudios de Cohortes , Análisis Mutacional de ADN , Femenino , Ghrelina/metabolismo , Humanos , Masculino , Modelos Biológicos , Mutación Missense/fisiología , Receptores de Ghrelina/metabolismo , Transfección
2.
Arq. bras. cardiol ; 95(2): 244-250, ago. 2010. graf, tab
Artículo en Portugués | LILACS | ID: lil-557833

RESUMEN

FUNDAMENTO: Os esfigmomanômetros auscultatórios de coluna de mercúrio para medida de pressão arterial (PA) vêm sendo banidos dos serviços de saúde em razão do risco de poluição e acidentes ambientais com o mercúrio. Os aparelhos aneroides poderiam ser uma alternativa. OBJETIVO: Validar o aparelho aneroide Missouri® de medida de pressão arterial em pacientes com câncer segundo o protocolo da European Society of Hypertension (ESH). MÉTODOS: Foram avaliados 33 pacientes internados ou em acompanhamento ambulatorial no Instituto do Câncer do Estado de São Paulo, da FMUSP. Foram realizadas nove medidas sequenciais da pressão arterial por três observadores treinados e cegados, sendo intercaladas as medidas com os aparelhos de coluna de mercúrio e aneroide. As diferenças entre os valores das pressões arteriais sistólicas (PAS) e diastólicas (PAD) do aparelho teste com o de mercúrio foram classificadas segundo o protocolo da ESH. RESULTADOS: O equipamento Missouri® passou por todas as três fases exigidas pelo protocolo da ESH para PAS e PAD, sendo aprovado em todas. A média da diferença entre o teste e mercúrio foi de 0,62 (DP=4,53) e 0,06 (DP=6,57) mmHg para a PAS e PAD, respectivamente. Não foi observada associação entre as diferenças nas medidas da PA com sexo, idade, índice de massa corpórea e circunferência e comprimento braquial. CONCLUSÃO: Os resultados mostraram que o aparelho aneroide Missouri® atende às recomendações de acurácia da ESH para a medida da PAS e PAD, podendo ser utilizado para substituir o esfigmomanômetro de mercúrio.


BACKGROUND: Auscultatory mercury sphygmomanometers to measure blood pressure (BP) have been banned from health services because of risk of pollution and environmental accidents with mercury. Aneroid appliances could be an alternative. OBJECTIVE: To validate the MissouriTM aneroid device for blood pressure measurement in cancer patients according to the protocol of the European Society of Hypertension (ESH). METHODS: 33 patients hospitalized or under outpatient care at the Cancer Institute of the State of São Paulo, FMUSP, were evaluated. Three trained and blinded observers performed nine sequential blood pressure measurements interspersed with the mercury sphygmomanometers. The differences between the values of systolic blood pressure (SBP) and diastolic blood pressure (DBP) of the test device with the mercury sphygmomanometer were classified according to the ESH protocol. RESULTS: The MissouriTM equipment underwent all three phases required by the ESH Protocol for SBP and DBP, and it was approved in all of the phases. The average difference between the test device and the mercury sphygmomanometer was 0.62 (SD = 4.53) and 0.06 (SD = 6.57) mmHg for SBP and DBP, respectively. No association was found between the differences in BP measurements with sex, age, body mass index and arm circumference and length. CONCLUSION: The results revealed that the aneroid MissouriTM device meets ESH accuracy recommendations for the measurement of SBP and DBP, and it can be used to replace the mercury sphygmomanometer.


Asunto(s)
Femenino , Humanos , Masculino , Persona de Mediana Edad , Determinación de la Presión Sanguínea/instrumentación , Presión Sanguínea/fisiología , Hipertensión/diagnóstico , Neoplasias/fisiopatología , Esfigmomanometros/normas
3.
Arq Bras Cardiol ; 95(2): 244-50, 2010 Aug.
Artículo en Inglés, Portugués | MEDLINE | ID: mdl-20658091

RESUMEN

BACKGROUND: Auscultatory mercury sphygmomanometers to measure blood pressure (BP) have been banned from health services because of risk of pollution and environmental accidents with mercury. Aneroid appliances could be an alternative. OBJECTIVE: To validate the Missouri aneroid device for blood pressure measurement in cancer patients according to the protocol of the European Society of Hypertension (ESH). METHODS: 33 patients hospitalized or under outpatient care at the Cancer Institute of the State of São Paulo, FMUSP, were evaluated. Three trained and blinded observers performed nine sequential blood pressure measurements interspersed with the mercury sphygmomanometers. The differences between the values of systolic blood pressure (SBP) and diastolic blood pressure (DBP) of the test device with the mercury sphygmomanometer were classified according to the ESH protocol. RESULTS: The Missouri equipment underwent all three phases required by the ESH Protocol for SBP and DBP, and it was approved in all of the phases. The average difference between the test device and the mercury sphygmomanometer was 0.62 (SD = 4.53) and 0.06 (SD = 6.57) mmHg for SBP and DBP, respectively. No association was found between the differences in BP measurements with sex, age, body mass index and arm circumference and length. CONCLUSION: The results revealed that the aneroid Missouri device meets ESH accuracy recommendations for the measurement of SBP and DBP, and it can be used to replace the mercury sphygmomanometer.


Asunto(s)
Determinación de la Presión Sanguínea/instrumentación , Presión Sanguínea/fisiología , Hipertensión/diagnóstico , Neoplasias/fisiopatología , Esfigmomanometros/normas , Femenino , Humanos , Masculino , Persona de Mediana Edad
4.
PLoS One ; 3(1): e1423, 2008 Jan 09.
Artículo en Inglés | MEDLINE | ID: mdl-18183303

RESUMEN

BACKGROUND: Recent studies have sought to describe HIV infection and transmission characteristics around the world. Identification of early HIV-1 infection is essential to proper surveillance and description of regional transmission trends. In this study we compare people recently infected (RI) with HIV-1, as defined by Serologic Testing Algorithm for Recent HIV Seroconversion (STARHS), to those with chronic infection. METHODOLOGY/PRINCIPAL FINDINGS: Subjects were identified from 2002-2004 at four testing sites in São Paulo. Of 485 HIV-1-positive subjects, 57 (12%) were defined as RI. Of the participants, 165 (34.0%) were aware of their serostatus at the time of HIV-1 testing. This proportion was statistically larger (p<0.001) among the individuals without recent infection (n = 158, 95.8%) compared to 7 individuals (4.2%) with recently acquired HIV-1 infection. In the univariate analysis, RI was more frequent in <25 and >59 years-old age strata (p<0.001). The majority of study participants were male (78.4%), 25 to 45 years-old (65.8%), white (63.2%), single (61.7%), with family income of four or more times the minimum wage (41.0%), but with an equally distributed educational level. Of those individuals infected with HIV-1, the predominant route of infection was sexual contact (89.4%), with both hetero (47.5%) and homosexual (34.5%) exposure. Regarding sexual activity in these individuals, 43.9% reported possible HIV-1 exposure through a seropositive partner, and 49.4% reported multiple partners, with 47% having 2 to 10 partners and 37.4% 11 or more; 53.4% of infected individuals reported condom use sometimes; 34.2% reported non-injecting, recreational drug use and 23.6% were reactive for syphilis by VDRL. Subjects younger than 25 years of age were most vulnerable according to the multivariate analysis. CONCLUSIONS/SIGNIFICANCE: In this study, we evaluated RI individuals and discovered that HIV-1 has been spreading among younger individuals in São Paulo and preventive approaches should, therefore, target this age stratum.


Asunto(s)
Infecciones por VIH/epidemiología , Adolescente , Adulto , Brasil/epidemiología , Femenino , VIH-1/aislamiento & purificación , Humanos , Masculino , Factores de Riesgo
5.
Appetite ; 50(2-3): 223-30, 2008.
Artículo en Inglés | MEDLINE | ID: mdl-17804118

RESUMEN

This study aimed to determine the occurrence of symptoms of binge eating (BE) among children and adolescents seeking treatment for their obesity, as well as to evaluate their diet composition and metabolic characteristics. The Binge Eating Scale (BES) was answered by 128 children and adolescents (10.77+/-2.04 years, BMI 29.15+/-4.98 kg/m2, BMI Z score 2.28+/-0.46, 53.91% pubescent), who were classified into two subgroups--binge eaters (score greater than or equal to 18 points) and non-binge eaters (score lower than 18 points). Anthropometric data, body composition and Tanner stages were collected and dietary evaluation conducted. Blood pressure was determined, and glucose, lipid profile and insulin assays were performed. Insulin resistance was determined using HOMA-IR. BE symptoms were present in 39.06% of patients. Carbohydrate intake in diet composition was significantly higher among binge eaters. Children with BE did not demonstrate significant dissimilar metabolic characteristics when compared to their counterparts without BE. Therefore, BE seems to be a prevalent problem among children and adolescents seeking help for their obesity. When associated with obesity, this eating behaviour can influence macronutrient consumption through increased carbohydrate intake. Further research would be valuable to verify the reproducibility of these findings.


Asunto(s)
Bulimia/epidemiología , Fenómenos Fisiológicos Nutricionales Infantiles/fisiología , Dieta , Carbohidratos de la Dieta/administración & dosificación , Obesidad/metabolismo , Obesidad/psicología , Antropometría , Composición Corporal , Índice de Masa Corporal , Estudios de Casos y Controles , Niño , Carbohidratos de la Dieta/metabolismo , Femenino , Humanos , Masculino , Encuestas y Cuestionarios
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