Celiac disease in children from Madeira island and its prevalence in first degree relatives.

CONTEXT: It is well recognized that celiac disease is an immune-mediated systemic disorder highly prevalent among relatives of celiac patients. OBJECTIVES: The aim of this study is to determine the prevalence of celiac disease in a group of first degree relatives of celiac children, and to access the frequency of human leukocyte antigen HLA-DQ2 and DQ8 in celiac disease patients and their affected relatives. METHODS: A survey was conducted of 39 children with celiac disease with follow-up in the Pediatric outpatient's clinic of Dr. Nélio Mendonça Hospital, in Madeira Island, Portugal. Were invited 110 first degree relatives to undergo serological screen for celiac disease with IgA antibody to human recombinant tissue transglutaminase (IgA-TGG) quantification. In all seropositive relatives, small intestinal biopsy and HLA typing was recommended. RESULTS: HLA- typing was performed in 38 celiac patients, 28/74% DQ2 positive, 1/2% DQ8 positive and 9/24% incomplete DQ2. Positive IgA-TGG was found in five out of the 95 relatives, and CD was diagnosed in three of them. Three relatives had the presence of HLA-DQ2, two were DQ2 incomplete (DQB1*02). CONCLUSIONS: The prevalence of celiac disease among first degree celiac patients´ relatives was 3.1%, 4.5 times higher than the general Portuguese population (0,7%) witch reinforces the need of extensive diagnostic screening in this specific group. HLA-DQ2 typing may be a tool in the diagnostic approach.

Celiac disease nn children from madeira island and its prevalence in first degree reaatives / Doença celíaca em idade pediátrica na Ilha da Madeira e sua prevalência em familiares de primeiro grau

Context It is well recognized that celiac disease is an immune-mediated systemic disorder highly prevalent among relatives of celiac patients. Objectives The aim of this study is to determine the prevalence of celiac disease in a group of first degree relatives of celiac children, and to access the frequency of human leukocyte antigen HLA-DQ2 and DQ8 in celiac disease patients and their affected relatives. Methods A survey was conducted of 39 children with celiac disease with follow-up in the Pediatric outpatient’s clinic of Dr. Nélio Mendonça Hospital, in Madeira Island, Portugal. Were invited 110 first degree relatives to undergo serological screen for celiac disease with IgA antibody to human recombinant tissue transglutaminase (IgA-TGG) quantification. In all seropositive relatives, small intestinal biopsy and HLA typing was recommended. Results HLA- typing was performed in 38 celiac patients, 28/74% DQ2 positive, 1/2% DQ8 positive and 9/24% incomplete DQ2. Positive IgA-TGG was found in five out of the 95 relatives, and CD was diagnosed in three of them. Three relatives had the presence of HLA-DQ2, two were DQ2 incomplete (DQB1*02). Conclusions The prevalence of celiac disease among first degree celiac patients´ relatives was 3.1%, 4.5 times higher than the general Portuguese population (0,7%) witch reinforces the need of extensive diagnostic screening in this specific group. HLA-DQ2 typing may be a tool in the diagnostic approach. .

Contexto A doença celíaca é uma doença sistémica autoimune muito prevalente nos familiares de primeiro grau de doentes celíacos. Objetivos O objetivo deste estudo é determinar a prevalência de doença celíaca, num grupo de familiares de primeiro grau de crianças com o diagnóstico de doença celíaca e, determinar a frequência de antígeno leucocitário humano (HLA)-DQ2 e DQ8 nos doentes celíacos e seus familiares afetados. Métodos Foi feita a pesquisa dos processos clínicos de 39 crianças com o diagnóstico de doença celíaca seguidas na consulta de Gastroenterologia Pediátrica do Hospital Dr. Nélio Mendonça na Ilha da Madeira, Portugal. Foram convidados 110 familiares de primeiro grau para a realização do rastreio serológico de doença celíaca através da quantificação do anticorpo IgA anti-transglutaminase tecidular humano (IgA-TGG). Aos familiares com resultado positivo no rastreio, foi recomendada a realização de biópsia intestinal e tipificação HLA. Resultados A tipificação HLA foi realizada em 38 crianças. Verificou-se a presença do heterodímero DQ2 em 28/74%, DQ8 em 1/2% e DQ2 incompleto em 9/24% das crianças. O rastreio de DC com IgA-TGG foi positivo em cinco dos 95 familiares analisados, tendo sido diagnosticada doença celíaca em três destes. Verificou-se a presença do heterodímero HLA-DQ2 em três familiares e HLA-DQ2 incompleto (DQB1*02) em dois familiares. Conclusões A prevalência de doença celíaca em familiares de primeiro grau de doentes celíacos foi 3.1%, 4.5 vezes mais elevada do que a da população Portuguesa geral (0,7%), o que reforça a importância de alargar o rastreio a este grupo específico. A tipificação ...

A frequent splicing mutation and novel missense mutations color the updated mutational spectrum of classic galactosemia in Portugal.

Classic galactosemia is an autosomal recessive disorder caused by deficient galactose-1-phosphate uridylyltransferase (GALT) activity. Patients develop symptoms in the neonatal period, which can be ameliorated by dietary restriction of galactose. Many patients develop long-term complications, with a broad range of clinical symptoms whose pathophysiology is poorly understood. The high allelic heterogeneity of GALT gene that characterizes this disorder is thought to play a determinant role in biochemical and clinical phenotypes. We aimed to characterize the mutational spectrum of GALT deficiency in Portugal and to assess potential genotype-phenotype correlations. Direct sequencing of the GALT gene and in silico analyses were employed to evaluate the impact of uncharacterized mutations upon GALT functionality. Molecular characterization of 42 galactosemic Portuguese patients revealed a mutational spectrum comprising 14 nucleotide substitutions: ten missense, two nonsense and two putative splicing mutations. Sixteen different genotypic combinations were detected, half of the patients being p.Q188R homozygotes. Notably, the second most frequent variation is a splicing mutation. In silico predictions complemented by a close-up on the mutations in the protein structure suggest that uncharacterized missense mutations have cumulative point effects on protein stability, oligomeric state, or substrate binding. One splicing mutation is predicted to cause an alternative splicing event. This study reinforces the difficulty in establishing a genotype-phenotype correlation in classic galactosemia, a monogenic disease whose complex pathogenesis and clinical features emphasize the need to expand the knowledge on this "cloudy" disorder.

[Pediatric obesity: the reality of one consultation]. / Obesidade Pediátrica: A Realidade de Uma Consulta.

BACKGROUND: The prevalence of paediatric obesity is constantly rising. The association to cardiovascular risk, diabetes and psychosocial disturbances is a concern. Precocious identification and intervention is essential to reduce the negative impact on adult life. MATERIAL AND METHODS: Evaluation of the expression of comorbidities and the multidisciplinary intervention on nutritional status and body composition in obese children and adolescents, at six months follow-up on the Paediatric Obesity consultation. Retrospective analysis from the clinical files of under 17 years-old patients, followed from January 2005 to December 2008. RESULTS: We followed 67 children and adolescents, mostly female. Overweight emerged at 4.6 years and the first evaluation in our consult occurred at 9.1 years-old, on average. Primary health care colleagues referred most patients (47.8%). The commonest predictor of obesity was parental obesity (60%). Planned physical activity was poorer in the lowest school years. Severe obesity was the most prevalent type of obesity (70%). Both genders showed a different fat distribution (female: non-central; male: central). Frequent findings on physical examination were: striae, adipomastia, acanthosis nigricans and orthopedic changes. In the first evaluation, although 6% of patients have shown high blood pressure, 34.4% insulin resistance and 56.7% dyslipidemia, only 7.7% met criteria for metabolic syndrome. Other associated comorbidities were psychosocial problems (23.9%), asthma (16.4%), orthopedic (10.5%) and gastrointestinal (3%) diseases. BMI percentile reduction occurred in 51% of cases, after 6 months of intervention. The increase on physical activity was reported by 56.7% of patients. Bioelectrical impedance showed an average fat mass reduction of 0.8%. At the end of the studied period, dropout rate from this consultation was admirably high (28.4%). CONCLUSION: Multidisciplinary involvement of all health professionals, schools and family is essential for paediatric obesity intervention. Anthropometric evaluation should always include the waist circumference and BMI estimate. Bioelectrical impedance can be used to evaluate the individual changes in body composition. Changing lifestyle habits is still the most effective treatment as success will mainly depend on the patient and family motivation.

Aspectos legais e toxicológicos do descarte de medicamentos / Legal and toxicological aspects of medication discharges

The incorporation of chemical substances in environmental matrices, notably medicines and some endocrine disruptors, has been a factor of increasing concern by scientific community. These compounds, that have been called “emerging contaminants”,are widely used by the modern society, and are characterized by their environmental impacts, even in low concentrations, since they interfere with the metabolism of various organisms, and result in disturbs of its population equilibrium. In this context, the medication discharge in its different forms, and the demand for strategies of management of these wastes, takes an important role. These strategies, to be worth need to consider the participation of professionals evolved at all the phases of the life cycle of medicines. This work presents a critical overview, based on a technical literature review and regulations analysis, about the effects of waste medicines on environment, especially on water bodies.

A incorporação de substâncias químicas nos compartimentos ambientais, notadamente os fármacos e alguns interferentes endócrinos, vem constituindo um motivo de crescente preocupação na comunidade científica. Estes compostos, que vem sendo denominados de “substâncias emergentes”, são amplamente usados pela sociedade moderna, e se caracterizam pelos impactos potenciais no ambiente, mesmo em baixas concentrações, pois interferem no metabolismo de vários organismos e levam ao desequilíbrio de suas populações. Neste contexto se insere o descarte de medicamentos nas suas variadas formas e a demanda por estratégias de gestão destes resíduos. Estas estratégias para serem eficazes devem contemplar o comprometimento dos vários profissionais envolvidos em todas as etapas do ciclo de vida dos medicamentos. Neste trabalho é apresentada uma discussão, com base em levantamento da literatura técnicae legislações pertinentes, sobre os efeitos do descarte de medicamentos vencidos ou fora de especificação, e seus impactos na qualidade ambiental, especialmente nos corpos hídricos.