Browsing by Author "Barros, L"
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- Decisões Clínicas na Doença de CrohnPublication . Magro, F; Correia, L; Lago, P; Macedo, G; Peixe, P; Portela, F; Amil Dias, J; Barros, L; Belo, T; Caldeira, P; Cerqueira, R; Chagas, C; Correia, M; Ferreira, A; Freire, P; Gonçalves, AR; Gonçalves, R; Herculano, R; Lopes, S; Moura Santos, P; Machado, A; Morna, H; Pimentel, R; Ramos, J; Reis, J; Rodrigues, S; Rosa, I; Salgado, M; Vasconcelos, H; Vieira, AIA doença de Crohn é uma doença inflamatória crónica do trato gastrointestinal. O aumento da incidência e a heterogeneidade desta patologia, com diferentes apresentações e prognóstico leva a uma constante preocupação em desenvolver e melhorar a sua classificação e tratamentoObjectivos: Elaborar recomendações (com base no nível de evidência e grau de recomendação) para 5 questões consideradas como os desafios clínicos na abordagem terapêutica da doença de Crohn na actualidade. Métodos: A metodologia adoptada pelo grupo de trabalho DC2 (Desafios Clínicos na Doença de Crohn) baseou‑se na seleção de 5 questões‑problema, por votação; elaboração, por cada subgrupo, de recomendações e reflexões nacionais para cada questão‑problema; discussão e aprovação das respostas e reflexões de cada questão, em reunião de consenso. Conclusões: Foi possível efectuar conclusões alicerçadas na evidência para as questões colocadas, recomendando‑se: 1) são factores preditivos de mau prognóstico o aparecimento da doença de Crohn antes dos 40 anos, doença estenosante e doença anal; 2) poder‑se‑á ponderar suspender os biológicos em doentes com remissão endoscópica e com biomarcadores normais; 3) os doentes com marcadores bioquímicos de atividade (nomeadamente a PCR e a calprotectina) têm maior probabilidade de recidiva; 4) perante uma falência aos biológicos é essencial assegurar que o tratamento com o primeiro fármaco foi optimizado. No caso do infliximab, está demonstrado que quer a redução do intervalo das administrações ou o aumento da dose permitem recuperar a resposta na larga maioria dos doentes. Em relação ao adalimumab, os doentes deverão passar de terapêutica quinzenal para semanal 5) em situação de doença de Crohn com cirurgia intestinal, o recurso a terapêutica de redução da recorrência pós‑cirurgia, particularmente imunossupressores e biológicos está indicado.
- McCune Albright Syndrome: A Diagnosis to be Kept in MindPublication . Barros, L; Sousa, F; Bernardo, MJPrecocious puberty, defined as the development of secondary sexual characteristics before the age of 8, often leads to anxiety in patients and their families but also in clinicians searching for the final diagnosis. After adequate investigation, the majority of the cases in girls turn out to be idiopathic. The authors present a case of McCune Albright syndrome in order to call attention to a rare cause of sexual precocity and the value of ultrasound in the evaluation of these situations. 10 years old infant girl admitted in our department due to irregular menstrual bleeding. She experienced a vaginal bleeding by the age of 3 which led to the diagnosis of McCune Albright Syndrome after a complete evaluation. Pubertal assessment revealed a reversed sequence in the remaining events with adrenarche at 5 and thelarche at 8. Hormonal evaluation demonstrated low FSH and LH levels (11,2 and 6,72 respectively) with high estrogen (204). Pelvic ultrasound showed a normal sized uterus (73x 29x32 mm), endometrial thickness of 5 mm and ovaries with several microfollicles and a copus luteum measuring 23 mm in the right ovary. McCune Albright syndrome is a very uncommon cause of sexual precocity that should, however, be suspected in all infant girls who present with vaginal bleeding. It is characterized by a triad: polyostotic fibrous dysplasia, gonadotropin-independent precocious puberty and café-au-lait skin spots. Due to autonomous production of estrogen by the ovaries, ultrasound image of the female reproductive tract is inconsistent with chronologic age. Pelvic ultrasound demonstrates a normal sized uterus with a well defined cervix and clearly identified ovaries with several follicles, similar to adult women of reproductive age. Ultrasonography of the pelvis has also an important role excluding other causes of GnRH-independent precocious puberty conditions like ovarian cysts or tumors.
- Mutational Analysis of Portuguese Families with Multiple Endocrine Neoplasia Type 1 Reveals Large Germline DeletionsPublication . Cavaco, B; Domingues, R; Bacelar, MC; Cardoso, H; Barros, L; Gomes, L; Ruas, MMA; Agapito, A; Garrão, A; Pannett, A; Silva, JL; Sobrinho, LG; Thakker, RV; Leite, VOBJECTIVE: To determine the spectrum of MEN1 mutations in Portuguese kindreds, and identify mutation-carriers. PATIENTS, DESIGN AND RESULTS: Six unrelated MEN1 families were studied for MEN1 gene mutations by single-strand conformational polymorphism (SSCP) and DNA sequence analysis of the coding region and exon-intron boundaries of the MEN1 gene. These methods identified 4 different heterozygous mutations in four families: two mutations are novel (mt 1539 delG and mt 655 ims 11 bp) and two have been previously observed (mt 735 del 46p and mt 1656 del C) all resulting in a premature stop codon. In the remaining two families, in whom no mutations or abnormal MEN1 transcripts were detected, segregation studies of the 5' intragenic marker D11S4946 and codon 418 polymorphism in exon 9 revealed two large germline deletions of the MEN1 gene. Southern blot and tumour loss of heterozygosity analysis confirmed and refined the limits of these deletions, which spanned the MEN1 gene at least from: exon 7 to the 3' untranslated region, in one family, and the 5' polymorphic site D11S4946 to exon 9 (obliterating the initiation codon), in the other family. Twenty-six mutant-gene carriers were identified, 6 of which were asymptomatic. CONCLUSIONS: These results emphasize the importance of the detection of MEN1 germline deletions in patients who do not have mutations of the coding region. Important clues indicating the presence of such deletions may be obtained by segregation studies using the intragenic polymorphisms D11S4946 and at codon 418. The detection of these mutations will help in the genetic counselling of clinical management of the MEN1 families in Portugal.
- Patterns of Parental Reactions to Their Children’s Negative Emotions: A Cluster Analysis with a Clinical SamplePublication . Pereira, AI; Santos, C; Barros, L; Roberto, MS; Rato, J; Prata, A; Marques, CParents' emotion socialization practices are an important source of influence in the development of children's emotional competencies This study examined parental reactions to child negative emotions in a clinical sample using a cluster analysis approach and explored the associations between clusters of parents' reactions and children's and parents' adjustment. The sample comprised 80 parents of Portuguese children (aged 3-13 years) attending a child and adolescent psychiatry unit. Measures to assess parental reactions to children's negative emotions, parents' psychopathological symptoms, parents' emotion dysregulation, and children's adjustment were administered to parents. Model-based cluster analysis resulted in three clusters: low unsupportive, high supportive, and inconsistent reactions clusters. These clusters differed significantly in terms of parents' psychopathological symptoms, emotion dysregulation, and children's adjustment. A pattern characterized by high supportive reactions to the child's emotions was associated with higher levels of children's adjustment. On the other hand, an inconsistent reactions pattern was associated with the worst indicators of children's adjustment and parental emotion dysregulation. These results suggest the importance of supporting parents of children with emotional and behavioural problems so that they can be more responsive to their children's emotional manifestations.