Carla Oliveira

Background: GH deficiency (GHD) is often associated with cardiovascular risk factors, including abdominal fat accumulation, hypercholesterolemia, and increased C-reactive protein. Despite the presence of these risk factors, adults with congenital lifetime isolated GHD (IGHD) due to an inactivating mutation in the GHRH receptor gene do not have premature atherosclerosis.Objective: The aim was to study the serum levels of adiponectin and leptin (antiatherogenic and atherogenic adipokine, respectively), and the urinary albumin excretion (UAE) in these IGHD individuals.Design and Patients: We conducted a cross-sectional study of 20 IGHD individuals (seven males; age, 50.8 ± 14.6 yr) and 22 control subjects (eight males; age, 49.9 ± 11.5 yr).Main Outcome Measures: Anthropometric factors, body composition, blood pressure, serum adiponectin, leptin, and UAE were measured.Results: Adiponectin was higher [12.8 (7.1) vs. 9.7 (5) ng/ml; P = 0.041] in IGHD subjects, whereas no difference was ob...

We report results of a magnetic ressonance imaging (MRI) study of 146 Brazilian children, whose intelligence quotient scored less than 70. 50% of MRI examinations did not exhibit any signal of structural lesion (N group), whereas a focal thinning at the junction of the body and splenium of the corpus callosum; ventricular asymmetry; periventricular leukomalacia; gliosis and arachnoid cysts were among the most frequent findings in the remaining of subjects (L group). Maternal stress and altered blood pressure were the most frequent findings in the pre-natal history of both N and L children. Familial antecedents of mental deficiency were reported in 30% of both groups, whereas familiar history of alcoholism was important in N group (60% in N versus 0% in L groups). Neuropsychomotor development was delayed in 80% of the children in both groups. Aggressiveness is the most frequent finding in the post-natal children history.

Objectives: Phenylketonuria (PKU) was the first inherited metabolic disease known to cause mental retardation for which a newborn screening program (NBS) was developed. The objective of this study was to evaluate the effectiveness of PKU NBS and the management of cases in the northeastern Brazilian state of Sergipe (SE).Materials and methods: We reviewed the phenylalanine concentrations in filter-paper collected from the heel (PKUneo) of 43,449 newborns; blood concentrations obtained by venipuncture in the subjects with abnormal PKUneo; the children’s age at several phases of the program, the incidence of the disease from January 2007 to June 2008; and metabolic control of the patients.Results: The coverage of NBS/SE was 78.93%. The children’s age was 10 ± 7 days at PKUneo collection. Twelve children were recalled based on the PKUneo cutoff value at 28 ± 13 days. From these, the concentrations of phenylalanine collected by venipuncture were normal in five children. The incidence of ...

Objectives: GH therapy is still controversial, except in severe GH deficiency (SGHD). The objective of this study was to compare the response to growth hormone (GH) therapy in children with partial GH insensitivity (PGHIS) and mild GH deficiency (MGHD) with those with SGHD.Subjects and methods: Fifteen PGHIS, 11 MGHD, and 19 SGHD subjects, followed up for more than one year in the Brazilian public care service, were evaluated regarding anthropometric and laboratory data at the beginning of treatment, after one year (1 st year) on treatment, and at the last assessment (up to ten years in SGHD, up to four years in MGHD, and up to eight years in PGHIS).Results: Initial height standard deviation score (SDS) in SGHD was lower than in MGHD and PGHIS. Although the increase in 1 st year height SDS in comparison to initial height SDS was not different among the groups, height-SDS after the first year of treatment remained lower in SGHD than in MGHD. There was no difference in height-SDS at t...

Este artigo descreve as conseqüências puras, em longo prazo, da deficiência isolada e vitalícia do hormônio de crescimento (GH) porque usa um modelo único de resistência ao hormônio liberador do GH (GHRH), em virtude da mutação homozigótica no gene do receptor do GHRH, em uma centena de indivíduos acometidos. Elas incluem baixa estatura grave com estatura final entre -9,6 a -5,2 desvios-padrão abaixo da média, com redução proporcional das dimensões ósseas, redução do volume da adenohipófise corrigido para o volume craniano e da tireóide, do útero, do baço e da massa ventricular esquerda, todos corrigidos para a superfície corporal, em contraste com o tamanho de pâncreas e fígado, maior que o de controles, quando igualmente corrigidos. As alterações características da composição corporal incluem redução acentuada da quantidade de massa magra (kg) e aumento do percentual de gordura com depósito predominante no abdome. Nos aspectos metabólicos são encontrados aumento de colesterol tota...

Os elementos mais velhos da família exercem papéis de promoção da saúde junto dos mais novos em doenças hereditárias como a paramiloidose. Contudo, escasseiam estudos que associem esses papéis ao impacto nas gerações mais novas. O objetivo deste estudo qualitativo exploratório é analisar o impacto dos papéis exercidos pelos mais velhos junto dos mais novos na promoção da saúde em famílias com paramiloidose. Adotou-se a Técnica dos Incidentes Críticos aplicada em entrevistas semiestruturadas. A amostra compreende 18 participantes, que relataram 76 incidentes. As entrevistas foram gravadas, transcritas e submetidas a análise de conteúdo. Os resultados sugerem que os impactos nos mais novos envolvem sobretudo capacitação para enfrentar a doença (n=41) e dificultar/complexificar a experiência da doença (n=11). O impacto dos papéis exercidos pelos mais velhos em famílias com paramiloidose é relevante, devendo ser considerado pelas equipas de saúde.

Citizens are now partners in the formal health promotion system. In the management of hereditary diseases, the role of family members is a vital source of support. Elders play a crucial role due to their long relationship with the disease and with patients in the family. However, this role has still been insufficiently explored, particularly in genetic disorders like paramyloidosis. This exploratory qualitative study analyzes the role of elders in families with paramyloidosis, in health promotion for younger members. The critical incidents technique was applied using a semi-structured interview. The study involved 18 participants who reported 76 critical incidents. The interviews were taped and submitted to content analysis. The principal results suggest the following roles for elders with younger family members: act as role models (in behaviors), encourage, inform, and support. The older generations can be mobilized by health professionals as partners to support younger generations...

The role of older generations in families with hereditary diseases has been recognised and associated to their function as guardians of the family's medical history. However, research is scarce in examining the roles that older generations play in terms of health promotion and risk management towards younger generations, which is particularly evident with incurable genetically inherited disorders such as familial amyloid polyneuropathy (FAP) ATTR Val30Met. This qualitative exploratory study examines the roles that older generations play towards younger generations, in terms of health promotion and risk management, in families with FAP. It also explores the intergenerational flow by analysing who from the older generation plays what role(s) towards whom from the younger generation. This study adopts the critical incidents technique. The sample comprises 18 participants that reported 76 critical incidents. The interviews were audio-taped and submitted for content analysis with the...

Estudo descritivo, de abordagem quantitativa, para avaliar as estratégias realizadas pelo enfermeiro no ambiente escolar de um Centro Municipal de Educação Infantil, através do Projeto de Extensão Aprendendo Saúde na Escola, e ainda analisar o perfil das crianças atendidas. A pesquisa foi realizada com uma amostra de 350 atendimentos de enfermagem. Verificamos que em dez alunos foram encontradas lesões corporais sugestivas de violência/negligência familiar. Estavam registradas atividades educativas, abordando os seguintes temas: dengue, higiene pessoal, parasitose e destino dos resíduos sólidos. Constatamos que 4,6% das crianças atendidas estavam desnutridas, 6,4% encontravam-se em risco nutricional e que 80% das crianças atendidas não apresentavam uma higiene oral adequada, demonstrada através da presença de cáries. Na avaliação dos professores sobre a atuação do projeto, foi possível identificar relatos sobre a diminuição dos episódios de violência doméstica contra a criança. O pr...

Children with speech sound disorders (SSD) represent a large number of speech and language therapists’ caseloads. The intervention with children who have SSD can involve different therapy approaches, and these may be articulatory or phonologically based. Some international studies reveal a widespread application of articulatory based approaches in children with different SSD. In Portugal no survey has been previously conducted about speech and language therapists (SLTs) practices when working with children with SSD, so it is still unknown how SLTs treat children with SSD. This study aims to explore the use of different intervention approaches of SLTs in Portugal, and to describe the approaches most frequently used in treating children who have phonologically based SSD. Data collection was conducted through a questionnaire available on the web platform Advanced Communication and Swallowing Assessment (ACSA; http://acsa.web.ua.pt ), and data analysis was based on 88 responses, corresponding to 5% of the total Portuguese SLTs population. Results showed that the intervention approaches most used with children who have SSD are phonological awareness (97% of the participants), auditory discrimination (92%), meaningful minimal contrast therapy (75%) and parent-based work (58%). The great majority of SLTs combined several approaches in their intervention. There was also a high percentage of SLTs that used articulation based approaches, namely articulation work (31%) in cases of phonologically based disorders. Most (63%) SLTs used weekly interventions over a period of more than six months (51%). The data presented here agrees with the results obtained in South African, UK and USA studies in terms of the approaches most frequently used in intervention with children who have phonologically based SSD. Regarding the frequency and duration of intervention, there is a discrepancy between the results obtained and what is commonly used across research. The characteristics described by the Portuguese SLTs for establishing the differential diagnosis of SSD do not always reflect the evidence available in recent literature. The findings presented in this article revealed the intervention approaches that SLTs currently use to treat children with phonologically based SSD and the theoretical foundations that guide their clinical practice. This allows the reader to compare clinical practice of SLTs across countries and research studies.