Wilson's Disease: A Prevalence Study in a Portuguese Population.

Introduction Wilson's disease (WD) is a rare and underdiagnosed genetic disorder caused by anomalous tissue copper deposition, and for which epidemiological studies, specifically in Portugal, are scarce. Objectives This study aimed to evaluate the prevalence and incidence of WD and provide a description of its main clinical and laboratory features. Methods A retrospective study was carried out, with a search between 1995 and 2015, of all patients with a minimum follow-up of three months and birth confirmed in the northern region of Portugal, with an estimated population of 3,689,682 inhabitants. Database collection was based on the Portuguese National Health Service's clinical coding system, relying on clinical data from 13 northern Portuguese hospitals, liver biopsy histology results, and hospital prescription records. Clinical and biochemical correlations were statistically assessed using chi-square, Mann-Whitney U, Friedman, and Wilcoxon tests. Results Over the 20-year period, a prevalence of 1:37.000 and an incidence of one per million person-year was found. A total of 94 patients were analyzed, with a slight male predominance (53%), the majority with the onset of clinical manifestations in pediatric age (56%), with a median age at diagnosis of 16.6 years (interquartile range of 12.3-20,.8 years). Most patients presented with predominant liver disease (54.8%), with more than a third with cirrhosis; mixed hepatic and neurological manifestations in 17.9%; and mainly neurological symptoms in 10.7% of the patients. Neurological impairment was strongly associated with delayed development of the manifestations of the disease (p = 0.001) and also a higher detection of Kayser-Fleischer rings (p < 0.001), present in 27.0% of the patients. Regarding therapy, penicillamine has been the most widely used, with adverse reactions reported in 24.8%. At six and 12 months after initiation of therapy, a significant decrease in liver enzymes was found (ALT: p = 0.002; AST: p = 0.002, respectively), but no significant reduction was observed in urinary copper excretion. Conclusion This was one of the first studies regarding WD prevalence in a Portuguese population, contributing to a better understanding of the epidemiology, diagnosis, and management of WD in the northern region of Portugal. WD should be considered in any individual with unexplained hepatic or neurological manifestations, and initial symptoms may manifest at an early age, even in children less than five years old. A high percentage of patients were identified in the early stages of the disease by asymptomatic elevation of transaminases. Following copper chelation therapy, cytolysis markers appear to be more sensitive indicators of treatment response.

HLA DQ2/DQ8 haplotypes and anti-transglutaminase antibodies as celiac disease markers in a pediatric population with type 1 diabetes mellitus

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.

Prevalence of Portuguese Children Exposed to Secondhand Smoke at Home and in the Car.

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.

Introdução: A exposição das crianças ao fumo ambiental do tabaco é uma importante causa de graves problemas de saúde e morbilidade infantil. Este é o primeiro estudo com representatividade nacional realizado em Portugal a descrever a prevalência de crianças expostas ao fumo ambiental do tabaco em casa e no carro. Material e Métodos: Trata-se de um estudo transversal descritivo que inclui uma amostra representativa de 2396 crianças portuguesas dos 0 aos 9 anos de idade, estratificada por idade e por região administrativa NUTS II. A aplicação de questionários decorreu entre janeiro e setembro de 2016. Resultados: Verifica-se que 6,1% das mães e 11,2% dos pais fumam no domicílio. Constata-se que 4,5% das mães e 8,3% dos pais fumam no carro. Verifica-se também que 5,4% das crianças estão duplamente expostas ao fumo ambiental do tabaco em casa e no carro. As crianças cujos pais são fumadores e com menor nível de escolaridade, estão mais expostas ao fumo ambiental do tabaco em casa. Discussão: A exposição das crianças ao fumo ambiental do tabaco tem diminuído em Portugal. Ainda assim, o consumo de tabaco dos pais e um baixo nível de escolaridade são fatores de risco para a exposição das crianças em casa. Conclusão: Uma vez que a principal fonte de exposição das crianças ao fumo ambiental do tabaco é o tabagismo dos pais, é necessário promover a cessação tabágica junto dos mesmos, assim como implementar a proibição de fumar no carro.

Prevalence of iron deficiency anemia and iron deficiency in a pediatric population with inflammatory bowel disease.

OBJECTIVES: Iron deficiency is the most common cause of anemia in children with inflammatory bowel disease, although the real prevalence is unknown. Intravenous iron is suggested as the first line treatment. This study aims to determine the prevalence of iron deficiency anemia in children with inflammatory bowel disease followed in a Pediatric Gastroenterology Unit of a tertiary center and to evaluate this unit's experience with intravenous iron. MATERIALS AND METHODS: A retrospective cohort study was designed involving children with inflammatory bowel disease followed in that unit between January 2001 and April 2016. Laboratory results were collected at the moment of diagnosis, after one-year follow-up and prior each IV iron administration performed during the study period. Anemia was defined according to World Health Organization criteria and the iron deficiency was defined using recent guidelines. RESULTS: Were studied 69 patients 71% had CD and 29% UC. 50.7% were female. Mean patient age at diagnosis was 13.3 years (range 1--17 years). Prevalence of ID and IDA at diagnosis was 76.8% and 43.5%, respectively. After one year follow-up, those values decreased to 68.1% (p = .182) and 21.7% (p = .002), respectively. Hemoglobin significantly increased (p < .001). Intravenous iron was administered to 92.8% of patients. No adverse reactions were reported. CONCLUSIONS: Intravenous iron is the first line in the treatment of Iron deficiency anemia in Inflammatory Bowel disease and it is safe and effective. Persistent anemia and iron deficiency are common.

Children's exposure to second hand smoke at home: a cross-sectional study in Portugal.

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 households' or guests' 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.

Portuguese children's exposure to second-hand tobacco smoke in the family car.

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<.001). Therefore, children with smoking parents were 5.44 times more likely to be exposed. CONCLUSIONS: Children's exposure to second-hand smoke in the family car is frequent, especially if one or both parents smoke. This highlights the need for effective tobacco control measures to prevent this severe health hazard.

Variáveis psicossociais no excesso de peso e na obesidade infantil / Psychosocial correlates of overweight and obesity in infancy

A obesidade acarreta consequências para além das meramente relacionadas com a saúde física, sendo também de salientar os aspetos psicossociais. Com o objetivo de avaliar as diferenças ao nível da qualidade de vida, morbilidade psicológica e imagem pessoal (autoconceito) foram avaliadas 267 crianças divididas em três grupos: um grupo de crianças da comunidade com peso normal (N = 147), um grupo de crianças da comunidade com excesso de peso/obesidade (N = 89) e um grupo de crianças com excesso de peso/obesidade em tratamento (grupo clínico) (N = 31). Os resultados mostraram que as crianças com excesso de peso/obesidade em tratamento são as que têm uma percepção mais negativa da sua saúde física e da saúde escolar, quando comparadas com as restantes crianças. Relativamente ao auto-conceito o grupo de crianças com excesso de peso/obesidade do grupo clínico perceciona-se como menos competente no domínio escolar, atlético, aparência física, aceitação social, comportamento e auto-estima. As crianças do grupo clínico com excesso de peso/obesidade apresentam ainda mais sintomatologia depressiva quando comparadas com as crianças da comunidade com peso normal e com as crianças do grupo clínico. Não foram encontradas diferenças significativas ao nível da sintomatologia ansiosa nas três amostras estudadas. Em suma, as diferenças entre os grupos avaliados podem refletir diferentes características das crianças com excesso de peso/obesidade que procuram tratamento.

Immune disease expressed in liver and platelets in an adolescent: a case report.

We report a case of a 15-year-old boy with autoimmune hepatitis lacking common serologic markers and normal gammaglobulinemia associated with immune thrombocytopenia and family history of psoriasis. He presented to our department with a 4-year history of a cervical posterior lymphadenopathy and recent petechiae. Previous laboratory results 6 months before already showed hepatocellular injury. After exclusion of other causes, the diagnosis of autoimmune hepatitis was made based on clinical grounds, associated immune disorder and histological features of liver biopsy.The authors alert for this atypical presentation of autoimmune hepatitis and associated immune thrombocytopenia.

Second hand smoke (SHS) exposure in children. An evaluation of a preventative measure.

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.

[Prevalence and smoking trends in Portugal and Europe]. / Estado actual e evolução da epidemia tabágica em Portugal e na Europa.

UNLABELLED: 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. OBJECTIVE: 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. METHODS: 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. RESULTS: 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. CONCLUSIONS: 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.

[First determination of the prevalence of celiac disease in a Portuguese population]. / Primeira determinação de prevalência de doença celíaca numa população Portuguesa.

UNLABELLED: 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.

[Iron deficiency anemia in infants. Preliminary development results at five years]. / Anemia por deficiência de ferro no lactente. Resultados preliminares do desenvolvimento aos cinco anos.

INTRODUCTION: 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. METHODS: 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. RESULTS: 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. CONCLUSIONS: 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.

Lymphadenopathy after BCG vaccination in a child with chronic granulomatous disease.

We report a 15-month-old boy who developed an ulcer in the left axillary fold following bacillus Calmette-Guerin vaccination. Subsequent immunologic and genetic studies led to the diagnosis of chronic granulomatous disease. His mother had "lupus-like" lesions, described in some carriers of this disease, that were thus related to her son's diagnosis. Although in healthy subjects this vaccination is usually harmless, in instances of impaired immunity it may cause adverse reactions. When a vaccine-related complication occurs, an underlying immunodeficiency should be sought.

[Prevalence of iron-deficiency anemia according to infant nutrition regime]. / Prevalência de anemia por deficiência de ferro de acordo com o tipo de alimentação do lactente.

UNLABELLED: Iron deficiency is the world most prevalent nutritional disorder. OBJECTIVE: 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. MATERIAL AND METHODS: 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. RESULTS: 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. CONCLUSIONS: 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.

[Developmental delay in children with iron deficiency anemia. Can this be reversed by iron therapy?]. / O atraso de desenvolvimento nas crianças com anemia por deficiência de ferro. Poderá ser revertido pela terapêutica com ferro?

OBJECTIVE: 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. SUBJECTS AND METHODS: 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. RESULTS: 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). CONCLUSIONS: 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.