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Familial hypercholesterolemia (FH) is a common genetic disorder of lipid metabolism caused by pathogenic/likely pathogenic variants in LDLR, APOB, and PCSK9 genes. Variants in FH-phenocopy genes (LDLRAP1, APOE, LIPA, ABCG5, and ABCG8), polygenic hypercholesterolemia, and hyperlipoprotein (a) [Lp(a)] can also mimic a clinical FH phenotype. We aim to present a new diagnostic tool to unravel the genetic background of clinical FH phenotype. Biochemical and genetic study was performed in 1,005 individuals with clinical diagnosis of FH, referred to the Portuguese FH Study. A next-generation sequencing panel, covering eight genes and eight SNPs to determine LDL-C polygenic risk score and LPA genetic score, was validated, and used in this study. FH was genetically confirmed in 417 index cases: 408 heterozygotes and 9 homozygotes. Cascade screening increased the identification to 1,000 FH individuals, including 11 homozygotes. FH-negative individuals (phenotype positive and genotype negative) have Lp(a) >50 mg/dl (30%), high polygenic risk score (16%), other monogenic lipid metabolism disorders (1%), and heterozygous pathogenic variants in FH-phenocopy genes (2%). Heterozygous variants of uncertain significance were identified in primary genes (12%) and phenocopy genes (7%). Overall, 42% of our cohort was genetically confirmed with FH. In the remaining individuals, other causes for high LDL-C were identified in 68%. Hyper-Lp(a) or polygenic hypercholesterolemia may be the cause of the clinical FH phenotype in almost half of FH-negative individuals. A small part has pathogenic variants in ABCG5/ABCG8 in heterozygosity that can cause hypercholesterolemia and should be further investigated. This extended next-generation sequencing panel identifies individuals with FH and FH-phenocopies, allowing to personalize each person’s treatment according to the affected pathway.

ABSTRACT Objectives: Evaluate the celiac disease (CD) markers, within the scope of its screening, in a pediatric population with diagnosis of type 1 diabetes (T1D) at Hospital de Braga (HB) and determine the prevalence of CD in the sample. Reflect on CD screening algorithm applied in this pediatric population. Subjects and methods: Retrospective observational study with 94 patients diagnosed with T1D at age 10 years or younger, followed up at the HB Outpatient Diabetology Consultation, including those referred from other hospitals. Record of clinical information, IgA anti-transglutaminase and anti-endomysium and HLA DQ2/DQ8 haplotypes. Results: We obtained positive serological test for CD in 4 patients. This test had 100% sensitivity and specificity. The prevalence of CD was 4.3% (n = 4). Positive HLA screening in 84.6% of patients, with both sensitivity and negative predictive value of 100% and specificity of 16.67%. Diagnosis of CD was made on average 3.40 ± 3.32 years after the diagnosis of TD1. All cases of CD registered non-gastrointestinal manifestations, none had gastrointestinal symptoms. Conclusion: This study proved that there is a higher prevalence of CD in pediatric population with TD1, when compared to general population, and clarified the importance of CD screening. Furthermore, it was observed that serological screening for CD antibodies is an excellent screening test and HLA typing, although not the most suitable first line test, can be useful in excluding the possibility of patients with T1D developing CD.

Anemia is a common extraintestinal manifestation of inflammatory bowel disease (IBD), both in pediatric and in adult patients. Iron deficiency is the main cause of anemia in patients with IBD. Anemia is a clinically relevant comorbidity, with impact on patients’ quality of life and it should be timely diagnosed and adequately treated. Currently, an active treatment approach is the recommended strategy, with evidence showing efficacy and safety of intravenous iron formulations. However, evidence in pediatric age remains scarce and no clinical recommendations exist for the diagnosis and treatment of this particular age group. The present document represents the first national consensus on the management of anemia in pediatric IBD and is therefore particularly relevant. The authors anticipate that the proposed recommendations will be useful in daily clinical practice for diagnosing and managing iron deficiency and iron-deficiency anemia in the pediatric population with IBD.

INTRODUCTION Iron deficiency is the world most prevalent nutritional disorder which is associated with impaired neurocognitive function in infants. The prevalence of iron deficiency anemia (IDA) in Portuguese infants remains unknown. The last study was performed by one of us (HA) in 1994 in a sample of 188 infants revealing a prevalence of IDA of 19%. The main objective of this study is to determine the current prevalence of IDA in a sample of infants nine months of age in Braga, Portugal. METHODS This was a cross-sectional study on a random sample of infants born from September 2016 to February 2017 at Braga Hospital. They were evaluated for anthropometry, socio-economic factors, feeding regime and a blood sample was taken for blood cell counts, serum ferritin and C reactive protein. RESULTS Forty-two infants were included. The prevalence of IDA was 7.1%. Nine infants were anemic (21%); moderate anemia was observed in 2/9 of infants and mild anemia in 7/9 infants. Of the 3 infants with IDA, 2 had been exclusively breastfed until 6 months. CONCLUSIONS Compared to a study from 1994, there may have been a reduction in the prevalence of IDA in this area in Portugal.

Introduction: Children’s exposure to secondhand smoke is a cause of serious health problems and infant morbidity. This is the first nationally representative study conducted in Portugal to describe the prevalence of children exposed to secondhand smoke at home and in the car. Material and Methods: This is a descriptive cross-sectional study with a representative sample of 2396 Portuguese children aged 0 to 9 years old, stratified by age and administrative region NUTS II. Questionnaires were administered between January and September 2016. Results: Results showed that 6.1% of mothers and 11.2% of fathers reported smoking at home. It was found that 4.5% of mothers and 8.3% of fathers reported smoking in the car. Results also showed that 5.4% of children were double exposed to secondhand smoke at home and in the car. Children whose parents were smokers and had a lower level of education were more exposed to secondhand smoke at home. Discussion: Children’s exposure to secondhand smoke has been decreasing in Portugal. Parental smoking and a low educational level were risk factors for children’s exposure to secondhand smoke at home. Conclusion: The main source of children’s exposure to secondhand smoke is parental smoking. As such, it is crucial to implement effective measures to control parental smoking. It is necessary to promote smoking cessation among parents and to ban smoking inside the car.

As reações adversas medicamentosas correspondem genericamente a uma reação deletéria e não desejada na toma do fármaco, nas doses consideradas adequadas para a idade do doente e para a patologia em questão. O reconhecimento rápido e adequado de reações adversas medicamentosas é imperativo, com importante impacto na morbi-mortalidade do doente. É apresentado o caso clínico de uma adolescente de 17 anos, com aparecimento súbito de exantema morbiliforme exuberante e progressivo, dois dias após ter finalizado ciclo de antibioterapia profilática com amoxicilina/ácido clavulânico, em contexto de gengivectomia eletiva. Internamento durante 4 dias no Serviço de Pediatria sob tratamento sintomático, verificando-se melhoria gradual e progressiva do exantema. O estudo etiológico infecioso e IgE específicas dos antibióticos foram negativos, tendo sido orientada para Consulta Externa de Imunoalergologia para completar estudo alergológico.

Introdução: A exposição das crianças ao Fumo Ambiental do Tabaco (FAT) está associada a graves problemas para a sua saúde, tais como maior risco de infeções agudas das vias aéreas inferiores, maior probabilidade de infeções respiratórias de repetição, risco acrescido de infeções nos ouvidos, indução e exacerbação de asma e enfisema pulmonar. A exposição ao FAT é especialmente grave para as crianças asmáticas. Esta exposição ocorre, na maioria dos casos, quando os pais e/ou outro convivente fumam no domicílio e/ou no carro. Objetivos: 1) Determinar a prevalência de crianças expostas ao FAT, em casa e no carro; 2) Determinar a prevalência de crianças asmáticas expostas ao FAT, em casa; 3) Caracterizar o comportamento tabágico dos pais e/ou outros conviventes em casa e no carro; 4) Identificar fatores sociodemográficos associados ao consumo de tabaco em casa. Metodologia: Estudo observacional descritivo transversal: aplicação de um questionário de auto-preenchimento a 513 alunos do 4.º ano de escolaridade (8-11 anos de idade) do Concelho de Braga no ano letivo de 2010/2011. Resultados: Estão expostas ao FAT: 27,5% das crianças em casa e 25,1% das crianças que usam o carro. Fumam em casa: 69,8% das mães e 56,8% dos pais fumadores. Fumar em casa é mais frequente nos pais com menor nível socioeconómico (p < 0,01). Conclusão: A exposição das crianças ao FAT é elevada. Os pais/mães fumam frequentemente em casa e no carro, o que justifica uma intervenção preventiva eficaz, que deverá ser uma prioridade de educação para a saúde, na escola e por parte dos profissionais de saúde.

Second-hand tobacco smoke (SHS) is a major indoor pollutant that causes serious health problems for all exposed, especially children. Children are often exposed to SHS at home, due to parental or other householdsâ or guestsâ smoking. This study describes Portuguese children's exposure to SHS at home (total and by Portuguese main regions).In 2010/2011, a questionnaire was applied to a sample of Portuguese children in the 4th grade (N = 3187, mean age 9.05 ± 0.7 years, 51.1% male). Descriptive analysis, chi-square tests and crude odds ratios were performed.Of the participants, 62.9% of those with smoking parents and 19.2% of those with non-smoking parents were exposed to SHS at their home. Parental smoking varied significantly among regions and was significantly associated with children's exposure to SHS at home.Children's exposure to SHS at home was high, especially if their parents smoke. Children living in Lisbon Region presented the highest SHS exposure rate. The association of SHS exposure with geographic regions suggests the influence of social and contextual factors on smoking behaviour and on tobacco control effectiveness. Our findings highlight the need to effectively prevent children's SHS exposure at their home and to develop tailored tobacco control measures by region. Keywords: Tobacco smoke pollution, Child welfare, Smoking, Tobacco, Parentâchild relations

Objectives: To assess the prevalence of children's exposure to second-hand smoke in the family car; to compare exposure among children with smoking and non-smoking parents. Methods: In 2011, a self-administered questionnaire was applied to a 4th grade Portuguese children national sample (N = 3187, mean age 9.5 ± 0.7, 51.1% boys). Prevalence rates and chi-square tests were computed. Results: Of the participants, 52.0% reported having, at least, one smoking parent. Overall exposure in the car was 28.9% (95% CI 27.3-30.5). Children's exposure among those reporting smoking parents was 46.9% (95% CI 44.4-49.4); and 8.6% (95% CI 7.1-10.1) among those reporting non-smoking parents (p

Aims: To study the incidence of perinatal stroke in a level-III maternity as well as potential risk factors, clinical presentation, neuroimaging, classification and clinical outcome of children with a minimum follow-up of 24 months. Methods: Historical prospective follow-up of all term and late preterm newborns diagnosed with perinatal stroke from January 2008 to December 2013. Results: Fifteen perinatal strokes were diagnosed in a total of 17,056 newborns (incidence 0.9/1,000). Thirteen had potential risk factors and fourteen were symptomatic. Median age at diagnosis was two days. Seizures were the most frequent symptom (14/15), being three focal-clonic, one multifocal-clonic, two generalized-tonic, three focal-tonic and five subtle. Cerebral ultrasound was performed in eleven newborns at an early stage, suggesting the diagnosis in six. Cerebral magnetic resonance imaging (MRI) confirmed the diagnosis in fifteen. Six had an arterial ischemic stroke, eight a cerebral venous thrombosis and one a hemorrhagic stroke. An electroencephalogram was obtained in all newborns with seizures revealing epileptic activity in eight. Search for prothrombotic disorders (in newborn and both parents) showed four newborns heterozygous methylene tetrahydrofolate reductase mutation and two neonatal alloimune thrombocytopenia. No recurrence of stroke was reported. Formal development evaluation was performed in thirteen and was normal in eleven, while in two revealed delayed psychomotor development, both of which with epilepsy. On the neonatology outpatient clinic follow-up, the current median age is 3 years and 11 months. Conclusions: This study reinforces the need to maintain high level of suspicion for perinatal stroke and the importance of MRI in the classification and etiological study. Our follow-up supported a good outcome of perinatal stroke.

Objectivo: Avaliar a eficácia de uma intervenção preventiva, dirigida a alunos do 4.º ano de escolaridade e aos seus pais/encarregados de educação, com a finalidade de reduzir a exposição das crianças ao fumo ambiental do tabaco (FAT) no domicílio. Material e métodos: Trata-se de um estudo pré-experimental, do tipo pré-teste e pós-teste, com alunos pertencentes a 32 escolas do 1.º ciclo do ensino básico, de cinco agrupamentos de escolas do concelho de Braga, no ano lectivo 2007/08. Foi aplicado um questionário de autorrelato, em contexto de sala de aula, antes e depois da intervenção. Na análise de dados, foi utilizado o qui-quadrado, por se tratarem de variáveis de categoria. Resultados: A prevalência de crianças expostas diária ou ocasionalmente ao FAT, pelo facto de pelo menos um dos conviventes fumar em casa, desceu dos 42,2% para os 32,6% (p=0,001). A percentagem de alunos, filhos de fumadores, que percepcionam que o pai fuma diária ou ocasionalmente em casa baixou de 68,0% no pré-teste para 51,6% no pós -teste (p=0,001). Em relação às mães, não houve uma redução estatisticamente significativa. Conclusão: O Programa Domicílios Sem Fumo terá sido eficaz em prevenir o consumo dos pais e outros conviventes em casa, tendo por isso ajudado a reduzir a prevalência de crianças expostas ao fumo ambiental. No entanto, verifica -se que ainda há cerca de um terço de crianças expostas, o que releva a necessidade de investimento em intervenções nesta área. Os profissionais de saúde, em especial os pediatras, devem aconselhar os pais a parar de fumar, sobretudo em casa.Aims: To evaluate the effectiveness of the preventative programme “Smoke-free Homes” undertaken in 4th year children and their parents or guardians, aiming to reduce children’s exposure to second hand smoke (SHS) in the home. Material and methods: This was a pre- and post-test pre-experimental study, in students from 32 Braga district primary schools 2007/08. A self-administered and structured questionnaire was given out to 795 students in the classroom before and after the programme. In analysing data, we used the chi-squared test for the categorical variables. Results: The rate of children exposed to regular or occasional SHS due to living with at least one smoker dropped from 42.2% to 32.6% (p=0.001). The percentage of students, children of smokers who stated that their father smoked regularly or occasionally at home, dropped from 68.0% pre-test to 51.6% posttest (p=0.000). No significant reduction was seen in mothers. Conclusion: Based on the data, we can conclude that the “Smoke-free Homes” programme was effective in preventing smoking in the home, and therefore reducing the rate of children exposed to SHS by about 10%. However, it appears that about a third of children are still exposed, which highlights the need for further measures in this area. Healthcare professionals, particularly those working in Paediatrics, should advise parents to quit smoking, especially in the home.

Resumo: Objectivo: Avaliar a eficácia de uma intervenção preventiva, dirigida a alunos do 4.º ano de escolaridade e aos seus pais/encarregados de educação, com a finalidade de reduzir a exposição das crianças ao fumo ambiental do tabaco (FAT) no domicílio.Material e métodos: Trata-se de um estudo pré-experimental, do tipo pré-teste e pós-teste, com alunos pertencentes a 32 escolas do 1.º ciclo do ensino básico, de cinco agrupamentos de escolas do concelho de Braga, no ano lectivo 2007/08. Foi aplicado um questionário de autorrelato, em contexto de sala de aula, antes e depois da intervenção. Na análise de dados, foi utilizado o qui-quadrado, por se tratarem de variáveis de categoria.Resultados: A prevalência de crianças expostas diária ou ocasionalmente ao FAT, pelo facto de pelo menos um dos conviventes fumar em casa, desceu dos 42,2% para os 32,6% (p=0,001). A percentagem de alunos, filhos de fumadores, que percepcionam que o pai fuma diária ou ocasionalmente em casa baixou de 68,0% no pré-teste para 51,6% no pós-teste (p=0,001). Em relação à s mães, não houve uma redução estatisticamente significativa.Conclusão: O Programa Domicílios Sem Fumo terá sido eficaz em prevenir o consumo dos pais e outros conviventes em casa, tendo por isso ajudado a reduzir a prevalência de crianças expostas ao fumo ambiental. No entanto, verifica-se que ainda há cerca de um terço de crianças expostas, o que releva a necessidade de investimento em intervenções nesta área. Os profissionais de saúde, em especial os pediatras, devem aconselhar os pais a parar de fumar, sobretudo em casa.Rev Port Pneumol 2010; XVI (1): 57-72 Abstract: Aims: To evaluate the effectiveness of the preventative programme âSmoke-free Homesâ undertaken in 4th year children and their parents or guardians, aiming to reduce childrenâs exposure to second hand smoke (SHS) in the home.Material and methods: This was a pre- and post-test pre-experimental study, in students from 32 Braga district primary schools 2007/08. A self-administered and structured questionnaire was given out to 795 students in the classroom before and after the programme. In analysing data, we used the chi-squared test for the categorical variables.Results: The rate of children exposed to regular or occasional SHS due to living with at least one smoker dropped from 42.2% to 32.6% (p=0.001). The percentage of students, children of smokers who stated that their father smoked regularly or occasionally at home, dropped from 68.0% pre-test to 51.6% post-test (p=0.000). No significant reduction was seen in mothers.Conclusion: Based on the data, we can conclude that the âSmoke-free Homesâ programme was effective in preventing smoking in the home, and therefore reducing the rate of children exposed to SHS by about 10%. However, it appears that about a third of children are still exposed, which highlights the need for further measures in this area. Healthcare professionals, particularly those working in Paediatrics, should advise parents to quit smoking, especially in the home.Rev Port Pneumol 2010; XVI (1): 57-72 Palavras-chave: Fumo passivo, prevenção do tabagismo, promoção da saúde, educação para a saúde, Key-words: Second hand smoke, smoking prevention, health education

A three-year-old male child presented with erythematous maculopapular nonpruritic generalized rash, poor feeding, vomiting, and cramping generalized abdominal pain. He was previously healthy and there was no family history of immunologic or other diseases. On examination he was afebrile, hemodynamically stable, with painful palpation of the right upper quadrant and positive Murphy’s sign. Laboratory tests revealed elevated inflammatory markers, elevated aminotransferase activity, and features of cholestasis. Abdominal ultrasound showed gallbladder wall thickening of 8 mm with a positive sonographic Murphy’s sign, without gallstones or pericholecystic fluid. Acute Alithiasic Cholecystitis (AAC) was diagnosed. Tests for underlying infectious causes were negative except positive blood specimen for Human Herpes Virus Type-6 (HHV-6) by polymerase chain reaction. With supportive therapy the child became progressively less symptomatic with gradual improvement. The child was discharged on the sixth day, asymptomatic and with improved analytic values. Two months later he had IgM negative and IgG positive antibodies (1/160) for HHV-6, which confirmed the diagnosis of previous infection. In a six-month follow-up period he remains asymptomatic. To the best of our knowledge, this represents the first case of AAC associated with HHV-6 infection.

Objectivos: Esta investigação pretende avaliar o impacto da lei antitabágica Portuguesa – Lei n.o 37/2007, de 14 de agosto – na exposição das crianças ao Fumo Ambiental do Tabaco em casa Tipo de estudo: Realizaram-se três estudos observacionais, transversais e analíticos Local: Escolas do 1.o ciclo de Braga População: Alunos do 4.o ano, do 1.o ciclo das escolas de Braga Métodos: Foram utilizados questionários de autopreenchimento, aplicados em contexto de sala de aula. Na análise de dados foi utilizado o qui-quadrado por se tratar de variáveis de categoria. Utilizou-se a mesma metodologia em momentos diferentes, o primeiro em 2007 (antes da entrada em vigor da lei), o segundo em 2010 e o terceiro em 2011 (ambos após a entrada em vigor da lei). Resultados: Em 2007, a amostra era constituída por 793 alunos do 4.o ano e no segundo e terceiro estudos participaram, respetivamente, 513 e 509 alunos do mesmo ano de escolaridade de escolas de Braga – Portugal. FA prevalência de crianças expostas diária ou ocasionalmente ao FAT, pelo facto de pelo menos um dos conviventes fumar em casa, desceu de 43,2% em 2007 para 19,9% em 2011 (p

Introdução: Existem vários factores que afectam a distribuição do fármaco nas vias áreas inferiores, onde podemos destacar os factores associados ao próprio dispositivo de inalação. Este trabalho tem como objectivo avaliar o desempenho da libertação de fármaco em três câmaras de expansão, assim como a quantidade de agente activo depositada no seu interior. Materiais e Métodos: Foi utilizado o Impinger Líquido de vários estágios (MSLI) de modo a avaliar o comportamento das partículas da suspensão Ventilan®HFA acoplado a três câmaras de expansão (Volumatic®, AeroChamber MAX® e NebuChamber®), de acordo com a Farmacopeia Portuguesa. A massa de sulfato de salbutamol recolhida nos diferentes compartimentos do impinger e no corpo da câmara foi determinada por espectrofotometria de modo a determinar a percentagem de massa cumulativa para cada câmara, determinando-se a fracção de partículas finas. Utilizou-se a Análise de Variância simples (One-way ANOVA) com o teste Post-Hoc de Bonferroni para a comparação dos resultados. Resultados: A deposição do sulfato de salbutamol ocorreu fundamentalmente no corpo das três câmaras, aproximadamente entre 40 a 50 %. Esta deposição é ligeiramente inferior na NebuChamber® (média±desvio-padrão: 43,8 % ± 11,6 %), mas não significativa relativamente à Volumatic® (p=0,351) ou à AeroChamber MAX® (p=0,115). A fracção de partículas finas assume valores de: 28,2 % ± 4,1 %, 29,6 % ± 2,4 % e 30,9 % ± 6,7 % para a Volumatic®, AeroChamber MAX® e NebuChamber®, respectivamente. Conclusão: As câmaras de expansão estudadas apresentam eficácias semelhantes na veiculação de sulfato de salbutamol aos estágios mais inferiores, não tendo sido encontrada relação entre os resultados e as suas características de volume, forma e material constituinte. Deste modo, a Volumatic® aparenta ser a câmara ideal para um hospital, uma vez que o seu grande volume não constitui uma desvantagem, sendo que o seu preço, inferior relativamente às anteriores, constitui uma vantagem de extrema importância para os hospitais públicos.

Tobacco smoking is the cause of more than half million deaths/year in the European Union (EU). Monitoring smoking prevalence is an important tool to evaluate the epidemic and its evolution and to assess the effectiveness of preventive measures. The comparison between countries may help us identify good control practices.To describe the current state and evolution of the smoking epidemic in several EU countries, and to characterize the Portuguese situation in comparison with those countries.To characterize smoking habits and their evolution in the population over 15 years old, several Eurobarometer reports from 1995 to 2007 were used. The characterization of School Aged Children's smoking habits was based on the Health Behaviour in School-Aged Children data of 1993-4 and 2002. The Portuguese situation also used the information available from the National Health Surveys of 1987 up to 2005/06.The global prevalence of smoking in adult population in most of the European countries is over 25%. The average prevalence of male and female smokers in School-Aged Children over 15 years of age is approximately 18% if we consider both genders together. In most countries the prevalence of tobacco consumption is higher in girls when compared to boys. In Portugal, the prevalence in the population over 15 years of age has one of the lowest values among European countries (30,6 % for men and 11,6% for women). Despite these crude prevalence rates, high age-sex-specific prevalence rates were found in age groups 25-34 and 35-44 in men (39,9% e 44,6% respectively) and in women (17,6 e 21,2% respectively). In 2002, at the age of 15, the percentage of daily smoking girls in Portugal was 19.5%. This value reveals that Portugal is among the countries with higher prevalence rates of smoking among adolescent girls. Over the last decade (1996-2006), a decrease in tobacco consumption has been observed in most EU countries, both in adult population and in School-Aged Children. In Portugal, this consumption has levelled off in adult men and in youngsters aged 15, but shows a significant increase in female adults and school-aged girls.Although Portugal presents low global prevalence rates in the European context, the substantial increases observed in the young adult female population are of particular concern because of its impact on women's health and the risk of pre and post-natal associated childhood exposure. These results reveal that current preventive strategies in Portugal are ineffective in reducing smoking prevalence among children and young adults.

The prevalence of celiac disease is unknown in Portugal. In European countries the prevalence is between 1:200 and 1:400. The incidence obtained through diagnosed cases in the paediatric gastroenterology units in Portugal was 1:3648. To determine the best current celiac disease screening method and its prevalence in a portuguese population, 536 sera of teenagers with 14 years +/- 6 months from Braga town schools were tested as follows: a) total IgA, b) anti-tissue transglutaminase antibodies c) anti-endomysium antibodies (AEA). One female adolescent, with negative AEA and anti-transglutaminase antibodies had a diagnosed celiac disease; this patient was under appropriate diet. Eleven adolescents had positive anti-transglutaminase antibodies and 4 of these had also positive AEA. A jejunal biopsy was carried out on the latter adolescents. Three presented intestinal villous atrophy, 2 a flat mucosa and 1 a moderate atrophy. One female adolescent had a normal mucosa. The prevalence was 1:134, [confidence interval at 95%, 1:53-1:500]. Conclusions: Presently, total IgA with determination of anti-tissue transglutaminase antibodies is apparently the best screening method; it is less expensive test and, given the use of ELISA, less dependent on the observer. The celiac disease prevalence found in the present study falls within the range of prevalence recently found in other European populations, which implies that the celiac disease is under-diagnosed in Portugal.

Research, mostly conducted in developing countries, have suggested short and long term developmental delay in children who had iron-deficiency anemia (IDA) in their early life. This study aims to evaluate the development of 5-years old children who were diagnosed IDA at 9 months of age.27 children with IDA diagnosed at 9 months of age and 28 non-anemic controls were followed-up until they were 5 years old. At 9 months of age and at 5 years of age, blood samples were collected for blood count, iron, transferrin and ferritin. Children with hemoglobin < 110 g/l and ferritin < 12 ng/ml were diagnosed with IDA and received iron treatment for IDA correction. C Reactive Protein and antibody to hepatitis A virus were also studied at 5 years of age. At this age, children's motor and cognitive development were accessed using Griffith's test.At 9 months of age, IDA children had [mean (SD)] 102.5 g/ l (5.9) g/l of hemoglobin and 5.6 ng/l (3.1) ng/ml of ferritin. At 5 years of age all children were healthy and without anemia. One child had positive antibody to hepatitis A virus. The results of Griffith's test at five years--anemic/non-anemic at 9 months of age. The mean (sd)-p: general coefficient--100.8 (6.6)/99.5 (7.1)-0.48; locomotor 110.2 (6.9)/109.3 (6.5)-0.62; personal-social--99.1 (11.4)/95.7(11.6)-0.28; hearing-speech--93.8 (9.1)/95.3 (13.7)-0.64; hand-eye--98.2 (13.2)/99.1 (14.3)-0.79; performance--97.5 (17.6)/96.9 (13.6)-0.88; practical reasoning--89.8 (9.1)/86.3(7.1)-0.21.As only one child had positive antibody to hepatitis A virus, the study population may be considered as belonging to a developed region. These results suggest that, at least in developed regions, infants who receive an early treatment for their mild IDA may not be affected in global development at the age of five.

In the last years has been observed an increased incidence of invasive group A beta-hemolytic streptococcal infections, including the toxic shock syndrome. The most common portal of entry is the skin and mucous membranes. The toxic shock syndrome can occurred as a rare complication of pharyngitis. The association between varicella and the use of nonsteroidal antiinflammatory drugs with necrotizing fasciitis by Streptococcus pyogenes has been discussed without reach at consensus, but some authors disapproved the use of nonsteroidal antiinflammatory drugs in this viral infection. The authors reported the clinical case of a 12 year old adolescent, that 15 days after the diagnosis of mononucleosis infectious confirmed by serology and treated with ibuprofen, was internment by streptococcal toxic shock syndrome with rhabdomyolysis, hepatitis, cellulitis of the leg, arthritis of the knee and pleural effusion. Therapeutics was made with penicillin G and clindamycin. We present this case for the severity of the clinical situation and for the questions that rise.

The hepatitis B virus is an important cause of morbidity and mortality in humans, thus making it a serious public health issue. The purpose of this study was to determine the hepatitis B virus vaccination rate with immunization, the risk of this population group becoming infected before vaccination and the prevalence of hepatitis B virus infection. The study involved randomly analyzing the serum of 311 adolescents of both sexes aged 14 from a total population of 536 adolescents attending schools in Braga, Portugal. A questionnaire was administered to the adolescents and asked them if they had received the Hepatitis B vaccine, how many doses they received, if they had a history of acute hepatitis, drug abuse, whether or not they had had sexual intercourse and if so, if they had used protection. The determination of the hepatitis B surface antigen (HbsAg), the antibody to HbsAg and the antibody to hepatitis B core antigen was carried out using the chemoluminiscence method. The vaccination rate with immunization was 85.8 %, [95% CI 81.9-89.7%]. The prevalence of hepatitis B virus infection was 0.6%, [95% CI 0-1.5%]. Conclusions: The prevalence of hepatitis B virus infection was low in this adolescent population of Braga. The vaccination rate with immunization is satisfactory, but does not reach 100%, which means that the risk of transmission is still present in this age group.

The prevalence of the hepatitis A virus in a population determines the degree of morbidity associated with this illness, that is, the higher the morbidity, the lower the prevalence. This study aims to obtain the prevalence of total antibody to the hepatitis A virus in children, 5 and 8 years of age, and in adolescents, 14 years of age. The study was based on two samples: the serum of 64 healthy five-year-olds and 76 healthy eight-year-olds living in the proximity of the São Marcos Hospital in Braga and the serum of 311 adolescents, aged 14, from a total population of 536 adolescents attending schools in Braga, North of Portugal. The samples were collected in 1999 for the adolescent group, in 2000 and 2001 for the group of the five-year-olds and in 2002 and 2003 for the group of the eight-year-olds. None of the persons involved had been vaccinated with the hepatitis A virus vaccine. The Enzyme Linked Fluorescent Assay method was used to measure the serum total antibody to the hepatitis A virus. The prevalence of total antibody to the hepatitis A virus was 1.6% at 5 years of age, [95% confidence intervals (CI), 0-4.7%]; 3.9% at 8 years of age, [95% CI, 0-8,4%]; and 32.5% at 14 years of age +/- 6 months, [95% CI, 27.3-37.7%]. The prevalence of total antibody to the hepatitis A virus in this population revealed lower natural immunity. The results obtained for the five and eight-year-olds were the first Portuguese results of low endemicity to the hepatitis A virus.

Iron deficiency is the world most prevalent nutritional disorder.To determine the prevalence of iron deficiency anemia in a population of infants with nine months of age, and the variation of this prevalence according to infants feeding regimes.One hundred eighty eight infants with nine months of age were studied for anthropometry, socio-economic factors and feeding regime. Blood samples were taken for blood cell counts, serum ferritin, iron and transferrin. Infants were labelled anaemic if haemoglobin level was less than 110 g/L and with iron deficiency anaemia if, in addition, they had a ferritin value of less than 12 g/L.The mean (standard deviation) values for haemoglobin were 111.8 g/L (9.1 g/L). Seventy-nine infants (42%) were anaemic. The prevalence of iron deficiency anaemia was 20%. Infants with iron deficiency anaemia were fed with iron fortified formula for 2.3 months in average in contrast with 3.8 months of those without iron deficiency anaemia (.005). Cereals fortified with iron were introduced in the nourishment of infants with iron deficiency anaemia at 4.3 months in average in contrast with 3.9 months among those without it (.009). The infants with iron deficiency anaemia were breast fed for 4.8 months in average in contrast with 3.7 months among those without it (.079). Age of the introduction of cow's milk, social class and Graffar, vitamin C supplementation and anthropometric parameters were not significantly associated with iron deficiency anaemia.This study points information about which groups are more at risk of developing iron deficiency anaemia in infants but when this evidence is only based in feeding practices one can not completely separate infants with and without iron deficiency anaemia; therefore a universal screening seems an indispensable tool for identification of iron deficiency anaemia.

To compare development of 17 children aged 12 months with iron deficiency anaemia (IDA) and 18 controls without IDA after a 3-months follow-up period and iron therapy in the IDA group.Development of all children was evaluated using the Griffith's Scale. Data was collected on parent's social class and education, breast-feeding, number of siblings and clinical nutritional status.At 12 months children with IDA had significantly lower development scores--mean (sd)--than those without IDA: 112(5) vs. 121(7). At 15 months, after iron therapy, there were no significant differences between cases and controls. Non-IDA children showed significantly lower development scores at 15 months when compared with 12 months (121 vs 115).The study shows that iron therapy can revert some of the adverse effects in the development of children with IDA and therefore both IDA prevention and treatment can be justified.