Overweight and obesity and their associated factors among early adolescence school children in urban and rural Portugal.

BACKGROUND: Obesity is defined as an abnormal or excessive accumulation of body fat and it is currently one of the most concerning public health issues, as it is related to a wide range of serious diseases and disorders. The study of the causes of obesity is multifactorial, and its diagnosis requires specific methods. Its management is complex, and it is crucial that it is handled appropriately, and its primary focus should be on prevention through lifestyle changes.The objectives of this study are to determine the prevalence of overweight/obesity in adolescents of both genders, aged 10 to 12 years, from different geographical environments (rural and urban), as well as to identify the underlying risk factors related to the respective obesity rates, namely: family environment, eating habits, and physical exercise. METHODS: An observational, cross-sectional study in a sample of 129 adolescents aged 10 to 12 years was conducted. Participants of both genders from rural and urban environments were included in this study. A questionnaire was completed on eating habits and physical activity, focusing on the number of daily meals, meal composition, and sedentary lifestyle habits. An anthropometric assessment was also performed, including weight, height, skinfolds, waist circumference, arm circumference, and percentage of lean mass and body fat, using bioelectrical impedance analysis. RESULTS: In the rural environment, the obesity rate was 16.9%, with 26.8% being either overweight or obese; whereas in the urban environment, these rates were respectively 16.7% and 33.4%. Living in a rural environment was not an independent predictor of being overweight or obesity, p = 0.581, or for increased percentage of body fat, p = 0.790. In contrast, being 12 years old, eating high-calorie foods four times a week or less, and having at least one obese parent were predictors of being overweight or obesity. Being 12 years old was also a predictor of gaining moderate to high body fat. CONCLUSIONS: Adolescents' residence in a rural or urban environment does not affect the occurrence of being overweight, obesity or high body fat. Paternal obesity was an important predictor of obesity in children. Obese fathers tended to serve higher calorie meals to their children.

Oculo-auriculo-vertebral spectrum: clinical and molecular analysis of 51 patients.

INTRODUCTION: Oculo-auriculo-vertebral spectrum (OAVS OMIM 164210) is a craniofacial developmental disorder affecting the development of the structures derived from the 1st and the 2nd branchial arches during embryogenesis, with consequential maxillary, mandibular, and ear abnormalities. The phenotype in OAVS is variable and associated clinical features can involve the cardiac, renal, skeletal, and central nervous systems. Its aetiology is still poorly understood. METHODS: We have evaluated the clinical phenotypes of 51 previously unpublished patients with OAVS and their parents, and performed comparative genomic hybridization microarray studies to identify potential causative loci. RESULTS: Of all 51 patients, 16 (31%) had a family history of OAVS. Most had no relevant pre-natal history and only 5 (10%) cases had a history of environmental exposures that have previously been described as risk factors for OAVS. In 28 (55%) cases, the malformations were unilateral. When the involvement was bilateral, it was asymmetric. Ear abnormalities were present in 47 (92%) patients (unilateral in 24; and bilateral in 23). Hearing loss was common (85%), mostly conductive, but also sensorineural, or a combination of both. Hemifacial microsomia was present in 46 (90%) patients (17 also presented facial nerve palsy). Ocular anomalies were present in 15 (29%) patients. Vertebral anomalies were confirmed in 10 (20%) cases; 50% of those had additional heart, brain and/or other organ abnormalities. Brain abnormalities were present in 5 (10%) patients; developmental delay was more common among these patients. Limb abnormalities were found in 6 (12%) patients, and urogenital anomalies in 5 (10%). Array-CGH analysis identified 22q11 dosage anomalies in 10 out of 22 index cases screened. DISCUSSION: In this study we carried out in-depth phenotyping of OAVS in a large, multicentre cohort. Clinical characteristics are in line with those reported previously, however, we observed a higher incidence of hemifacial microsomia and lower incidence of ocular anomalies. Furthermore our data suggests that OAVS patients with vertebral anomalies or congenital heart defects have a higher frequency of additional brain, limb or other malformations. We had a higher rate of familial cases in our cohort in comparison with previous reports, possibly because these cases were referred preferentially to our genetic clinic where family members underwent examination. We propose that familial OAVS cases show phenotypic variability, hence, affected relatives might have been misclassified in previous reports. Moreover, in view of its phenotypic variability, OAVS is potentially a spectrum of conditions, which overlap with other conditions, such as mandibulofacial dysostosis. Array CGH in our cohort identified recurrent dosage anomalies on 22q11, which may contribute to, or increase the risk of OAVS. We hypothesize that although the 22q11 locus may harbour gene(s) or regulatory elements that play a role in the regulation of craniofacial symmetry and 1st and 2nd branchial arch development, OAVS is a heterogeneous condition and many cases have a multifactorial aetiology or are caused by mutations in as yet unidentified gene(s).

Juvenile polyposis of infancy in a child with deletion of BMPR1A and PTEN genes: surgical approach.

Juvenile polyposis of infancy is the most severe and life-threatening form of juvenile polyposis. This disease typically presents in the first two years of life with gastrointestinal bleeding, diarrhea, inanition, and exudative enteropathy. In very few reports concerning this entity, a large deletion in the long arm of chromosome 10 (10q23), encompassing the PTEN and BMPR1A genes, was found. The authors report a case of delayed diagnosis of juvenile polyposis of infancy at 6 years of age. A 3.34 Mb long de novo deletion was identified at 10q23.1q23.31, encompassing the PTEN and BMPR1A genes. The disease course was severe with diarrhea, abdominal pain, inanition, refractory anemia, rectal bleeding, hypoalbuminemia, and exudative enteropathy. A sub-total colectomy, combined with intraoperative endoscopic removal of ileal and rectal stump polyps, was required for palliative disease control.

Simulação Médica no Ensino Universitário de Pediatria / Medical Simulation in the University Teaching of Pediatrics

RESUMO Objetivos Demonstrar as vantagens do uso de manequins simuladores no ensino prático médico, em particular pediátrico, e estudar os diferentes tipos de manequins/modelos existentes, especificidades e utilização própria de cada um deles. Métodos A formação médica baseada na transmissão teórica de conhecimentos e com aprendizagem clínica praticada em doentes reais não é viável atualmente, pois depende da oportunidade e disponibilidade dos doentes em determinado momento. Hoje em dia, a Medicina recorre a modelos de simulação médica, permitindo o desenvolvimento da proficiência necessária à execução de determinado procedimento. A simulação médica proporciona diversas vantagens: não requer doentes reais e disponíveis, possibilita repetição da técnica com correção de erros, aumenta o nível de confiança do aluno em suas capacidades e não oferece risco ao doente. Desde 2009, o ensino de Pediatria no Estágio de Saúde Infantil dos alunos do sexto ano do Mestrado Integrado em Medicina na Faculdade de Medicina de Coimbra contempla aulas práticas com modelos, onde os alunos treinam técnicas como: intubação pediátrica, manobra de Ortolani, punção venosa em membros superiores, punção lombar, intubação orotraqueal, auscultação do murmúrio vesicular, punção venosa, avaliação da fontanela normotensa e da hipertensão da fontanela. Esta componente prática de ensino estimula e agrada aos alunos, que todos os anos a elegem como uma das preferidas do Estágio de Saúde Infantil no âmbito do Mestrado Integrado. Resultados Aquisição de conhecimentos e prática de técnicas médicas, invasivas e não invasivas, por parte dos alunos, recorrendo a modelos de simulação médica pediátricos, nomeadamente: intubação pediátrica, manobra de Ortolani, punção venosa em membros superiores, punção lombar, intubação orotraqueal, auscultação do murmúrio vesicular, punção venosa, avaliação da fontanela normotensa e da hipertensão da fontanela. Feita a avaliação destas mesmas aulas pelos alunos por meio de questionário de preferências, ficou claro que esta é uma das aulas preferidas dos alunos do sexto ano de Medicina em Estágio de Saúde Infantil do Mestrado Integrado em Medicina. Conclusões Foi possível aos alunos desenvolver competências na realização de procedimentos médicos, com uma avaliação muito positiva pelos estudantes do Estágio em Saúde Infantil do Mestrado Integrado em Medicina.

ABSTRACT Objectives To demonstrate the advantages of using simulator mannequins in practical medical education and particularly in pediatrics, studying the different kinds of existing mannequins/models, their specific characteristics and uses. Methods Medical training based on the theoretical transmission of knowledge and clinical learning practiced on real patients is currently unviable because it is dependent on the timing and availability of patients at any given moment. Nowadays, medicine uses medical simulation models, thus facilitating the development of proficiency in skills required for the execution of particular procedures. Medical simulation provides several advantages: it does not require real and available patients, techniques may be repeated in order to address errors, students’ confidence in their abilities is promoted, and there is an absence of risk for the patient. Since 2009, the child health internship undertaken as part of the pediatric education section of the Integrated Master’s degree at the University of Coimbra Faculty of Medicine by sixth-year students has included practical classes with models where students practice techniques such as pediatric intubation, the Ortolani maneuver, venipuncture in upper limbs, lumbar puncture, endotracheal intubation, breath sounds auscultation, venipuncture, evaluation of normotensive fontanelle, and hypertension fontanelle. This practical component stimulates and appeals to students, who repeatedly select these classes as one of their favorites on the child health internship completed as part of the Integrated Master’s degree in Medicine. Results Students used medical simulation models to acquire knowledge and practice medical, invasive and non-invasive techniques such as: pediatric intubation, the Ortolani maneuver, venipuncture in the upper limbs, lumbar puncture, endotracheal intubation, breath sounds auscultation, venipuncture, evaluation of normotensive fontanelle, and hypertension fontanelle. Upon the students’ assessment by means of a preference questionnaire, it became clear that these classes were some of those preferred by sixth-year students completing the child health internship as part of their Integrated Master’s degree. Conclusions Students completing child health internships as part of the Integrated Master’s degree in medicine were able to develop skills in performing medical procedures, with very positive assessments given by these students on the experience.

Longitudinal effects of an intervention on perfectionism in adolescents / Efectos a largo plazo de una intervención sobre el perfeccionismo en adolescentes

Perfectionism is a personality disposition characterized by a person´s striving for flawlessness and the setting of excessively high performance standards. This trait has been associated with a broad range of psychopathological conditions. Consequently, prevention of its harmful effects must start early. Objective: To investigate if one group session to manage perfectionism has the effect of reducing the levels of this trait, two and six months later. Method: A community-based sample of 978 Portuguese adolescents from three different high schools completed a self-reporting questionnaire including the Child and Adolescent Perfectionism Scale, before and after one skill session. Three groups were formed: the intervention group received a skill session aimed at reducing perfectionism; control group 1 received a skill session aimed at healthy habits, and control group 2 received no intervention. Results: At baseline, no significant mean differences were found by gender or by school in Total Perfectionism or its dimensions. After one session to manage Perfectionism, the intervention group showed significant reduction in self-oriented perfectionism (SOP) scores, two months (p = .001) and six months later (p = .02). No significant reductions were observed in the control groups. Discussion: Our findings suggest that adolescents are sensitive to short interventions aimed at reducing perfectionism (AU)

Perfeccionismo es un rasgo de la personalidad caracterizado por la lucha por la perfección y la fijación de normas de rendimiento excesivamente altas. Se ha asociado con una amplia gama de condiciones psicopatológicas. En consecuencia, la prevención de sus efectos nocivos debe comenzar temprano. Objetivo: investigar si una sesión para manejar el perfeccionismo puede reducir los niveles de este rasgo, dos y seis meses más tarde. Método: una muestra comunitaria de 978 adolescentes, de tres secundarias, respondió a un cuestionario de auto-reporte incluyendo la Escala de Perfeccionismo Infantil y Adolescente antes y después de una sesión. El grupo de Intervención recibió una sesión orientada a reducir el perfeccionismo. El grupo control 1 una sesión sobre hábitos saludables y el grupo control 2 no recibió intervención. Resultados: al inicio, no se encontraron diferencias significativas de medias por género y por escuela. Después de una sesión para manejar el Perfeccionismo, el grupo de intervención mostró una reducción significativa en las puntuaciones del perfeccionismo auto-orientado, dos meses (p = .001) y seis meses después (p = .02). Sin reducciones significativas en los controles. Discusión:nuestros hallazgos sugieren que los adolescentes son sensibles a intervenciones cortas para reducir el perfeccionismo (AU)

Children and adolescent perfectionism scale: validation in a portuguese adolescent sample / Escala de perfecionismo de crianças e adolescentes: validação em adolescentes portugueses

The aim of this study was to analyze the psychometric properties of the Portuguese version of the Child and Adolescent Perfectionism Scale (CAPS). Method: 971 Portuguese high school students (572 girls and 399 boys) answered the CAPS. The test-retest reliability was obtained with 206 participants from the total sample. Results: Internal consistency (α= .809) and test-retest reliability (r= .691) were satisfactory. Main components of factorial analysis yielded two factors, accounting for 41.44% of the total variance. Factor structure was similar to the original version. Factors were labelled as "Socially Prescribed Perfectionism" and "Self-Oriented Perfectionism". Discussion: The Portuguese version of the CAPS is a valid and useful instrument for the evaluation of perfectionism among Portuguese adolescents.

O objetivo do estudo foi analisar as propriedades psicométricas da "Child and Adolescent Perfectionism Scale - CAPS" (Escala de Perfecionismo de Crianças e Adolescentes - EPCA). Método: 971 adolescentes portugueses do ensino secundário (572 raparigas e 399 rapazes) responderam a EPCA. A estabilidade temporal foi obtida com 206 participantes da amostra total. Resultados: A consistência interna (α=0,809) e a estabilidade temporal (r=0,691) foram satisfatórias. A análise fatorial dos principais componentes produziu dois fatores, que explicou 41,44% da variância total. A estrutura fatorial foi semelhante à da versão original. Os fatores foram denominados "Perfecionismo Socialmente Prescrito" e "Perfecionismo Auto-orientado". Discussão: A versão portuguesa da "CAPS"é um instrumento válido e útil para a avaliação do Perfecionismo em adolescentes portugueses.

Portuguese validation of the children's eating attitudes test / Validação portuguesa do teste de atitudes alimentares para crianças

BACKGROUND: The Eating Attitudes Test (EAT) is the most widely used instrument for evaluating eating disorders in adults and adolescents in a variety of cultures and samples.OBJECTIVE: The aim of this study was to analyse the psychometric properties of the Portuguese version of the Children's Eating Attitudes Test (ChEAT).METHOD: Nine hundred and fifty-six Portuguese secondary students (565 girls and 391 boys) answered the ChEAT. The test-retest reliability was obtained with data from 206 participants from the total sample who re-answered the questionnaire after 4-6 weeks. Psychometric analyses were carried out for the total sample and separately for girls and boys.RESULTS: Internal consistency and test-retest reliability were satisfactory. Principal components factorial analysis yielded four factors in the total sample, accounting for 42.35% of the total variance. Factor structure was similar in the total sample and in both genders. Factors were labelled: F1 "Fear of Getting Fat", F2 "Restrictive and Purgative Behaviours", F3 "Food Preoccupation" and F4 "Social Pressure to Eat". The concurrent validity, explored using the Contour Drawing Figure Rating Scale (CDRS) was high.DISCUSSION: The Portuguese version of the ChEAT is a valid and useful instrument for the evaluation of abnormal eating attitudes and behaviours among Portuguese adolescents.

CONTEXTO: O Teste de Atitudes Alimentares é o instrumento mais utilizado para avaliar distúrbios alimentares em adultos e adolescentes em uma variedade de culturas e amostras.OBJETIVO: O objetivo deste estudo foi avaliar as propriedades psicométricas da versão portuguesa da Escala de Atitudes Alimentares para Crianças (ChEAT).MÉ;TODO: Novecentos e cinquenta e seis alunos do ensino secundário (565 moças e 391 moços) responderam ao ChEAT. O cálculo da fidelidade teste-reteste foi feito por meio das respostas de 206 participantes da amostra total que voltaram a responder ao questionário após quatro a seis semanas. As análises psicométricas foram realizadas para o total da amostra e para ambos os sexos separadamente.RESULTADOS: A consistência interna e a fidelidade teste-reteste foram satisfatórias. A análise fatorial em componentes na amostra total resultou em quatro fatores que explicam 42,35% da variância total. A composição dos fatores foi semelhante na amostra total e em ambos os sexos. Os fatores denominaram-se: F1 "Medo de Engordar"; F2 "Comportamentos Restritivos e Purgativos"; F3 "Preocupação com a Comida" e F4 "Pressão Social para Comer". A validade concorrente foi explorada com a Escala de Silhuetas Corporais (CDFRS) e foi elevada.CONCLUSÃO: A versão portuguesa do ChEAT é um instrumento útil e válido para a avaliação de atitudes e comportamentos alimentares em adolescentes portugueses.

Thermal stability and activity regain of horseradish peroxidase in aqueous mixtures of imidazolium-based ionic liquids.

Thermal deactivation kinetics of horseradish peroxidase (HRP) were studied from 45 to 90 degrees C in phosphate buffer and 5-25% (v,w/v) 1-butyl-3-methylimidazolium tetrafluoroborate [BMIM][BF4] and 1-butyl-3-methylimidazolium chloride [BMIM][Cl]. HRP activity at 25 degrees C was not affected by the presence of ionic liquids up to 20% (v,w/v). Increasing the ionic liquids concentration up to 25% (v,w/v) changed the biphasic character of deactivation kinetics to an apparent single first-order step. The presence of 5-10% (v/v) [BMIM][BF4] significantly improved HRP thermal stability with lower activation energies for the deactivation second phase (83-87 kJ mol(-1)). After deactivation, enhanced activity regain of the enzyme, up to 70-80% of the initial activity, was found in 25% (v/v) [BMIM][BF4] and 10% (w/v) [BMIM][Cl] and correlated to prevalence of the deactivation first phase.

Atitudes e comportamentos alimentares em uma população adolescente portuguesa / Eating attitudes and behaviours in a Portuguese adolescent sample

Introdução: Os transtornos do comportamento alimentar (TCA) têm aumentado nas últimas décadas. Um dos principais motivos para esse aumento é a pressão sociocultural exercida sobre os adolescentes, que consideram a magreza como um sinal de perfeição e beleza. Devido a essa pressão, muitos jovens adquirem comportamentos alimentares inadequados, e um pequeno número de indivíduos desenvolve TCA. Objetivos: Identificar as atitudes e comportamentos alimentares em uma população de adolescentes, de duas localidades portuguesas (Coimbra - meio urbano e Cantanhede - meio rural), e verificar se existiam diferenças quanto à localização geográfica de residência dos jovens, ao sexo, à idade e ao índice de massa corporal (IMC). Métodos: Estudo epidemiológico, transversal, descritivo e de correlação. O instrumento utilizado foi a versão Portuguesa do Teste de Atitudes Alimentares-25 (TAA-25). Resultados: Obtivemos 997 inquéritos válidos. As idades situaram-se entre os 14 e os 20 anos (média = 16,38; desvio padrão (DP) = 1,19). Um total de 86,6% tinham IMC dentro dos valores normais para a idade. Encontramos atitudes e comportamentos alimentares mais inadequados no sexo feminino, na cidade maior, mas não no grupo de jovens com o IMC mais elevado. Conclusões: A prevalência de atitudes e comportamentos alimentares disfuncionais foi baixa (4%). Foram mais frequentes no sexo feminino e nos que vivem em ambiente urbano, mas não nos adolescentes com IMC mais elevado. Consideramos interessante este último resultado, que contrasta com a restante literatura quanto ao fato de que os comportamentos alimentares disfuncionais são mais frequentes nos adolescentes com IMC mais elevado.

Introduction: In the last decades, Eating disorders (ED) have been increasing. One of the main reasons for this increase is the sociocultural pressure into adolescents, who consider thinness a signal of perfection and beauty. In this context, many adolescents initiate dysfunctional eating attitudes and behaviours, and some of them develop ED. Objectives: To study the eating attitudes and behaviours in two Portuguese groups of adolescents (Coimbra – urban area and Cantanhede – rural area) of high school students of both genders and to investigate possible differences between them in terms of local of residence, gender, age and body mass index (BMI). Methods: Epidemiological, cross-sectional, correlation and descriptive study. Portuguese adolescents were asked to complete the Portuguese version of Eating Attitude Test-25. Results: A total of 997 valid questionnaires were obtained. The age of the adolescents was between 14-20 years (mean = 16.38; standard deviation (SD) = 1.19). A total of 86.6% had a normal BMI for age. Dysfunctional eating behaviours were significantly more frequent in the female adolescents who lived in the bigger city, but not in the group with higher BMI for age. Conclusions: The prevalence of dysfunctional eating attitudes was low (4%). In accordance with other studies from western societies, female adolescent living in an urban area had more dysfunctional eating attitudes. In contrast with other studies, adolescents with higher BMI did not have more dysfunctional eating attitudes and behaviours, and we consider this result interesting.