Browsing by Author "Maciel, P"
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- Drenagem pleuro-amnióticaPublication . Rodrigues, CT; Maciel, P; Ribeiro, SC; Carvalho, CL; Correia, JP; Matos, LF; Mesquita, JB; Couceiro, AB; Jardim, FRFetal hydrothorax refers to a collection of fluid within the fetal thorax that may be the result of chylous leak from the thoracic duct (primary hydrothorax) or generalized fluid retention associated with immune or no immune fetal hydrops (secondary hydrothorax). The authors' presents a case report occurred in 2002, of a pregnant woman that at 25 weeks' gestation that was referred to Maternidade Bissaya-Barreto-Coimbra because of a fetal hydrothorax at left, under tension and with cardiac decompensation signs. A fetal thoracocentesis was performed and the diagnosis was chylothorax. Because of a rapid reaccumulation of fluid a pleuroamniotic shunt was placed. The effusion and the cardiac decompensation signs regressed. The delivery was at 38 weeks' gestation. The newborn had been stable. Actually he has 10 months, is healthy and has a normal grow and development.
- Molecular diagnosis of Huntington disease in Portugal: implications for genetic counselling and clinical practicePublication . Costa, MC; Magalhães, P; Ferreirinha, F; Guimarães, L; Januário, C; Gaspar, I; Loureiro, L; Vale, J; Garrett, C; Regateiro, FJ; Magalhães, M; Sousa, A; Maciel, P; Sequeiros, JHuntington disease (HD) is a neurodegenerative, autosomal dominant disorder of late-onset, caused by the expansion of a CAG repeat in the coding region of the gene. Ours is the reference laboratory for genetic testing in HD, in Portugal, since 1998; 90.1% of all 158 families known were identified for the first time, including patients with unusual presentation or without family history. A total of 338 genetic tests were performed: 234 for diagnosis, 96 for presymptomatic and four for prenatal testing (four were done for family studies). Most referring physicians were neurologists (90.6%); 82.8% of all clinical diagnosis were confirmed, while 83.1% of those sent for exclusion were in fact excluded. In presymptomatic testing, an excess of female subjects (59.4%) was again verified; 37.5% of the consultands were found to be carriers. None of the foetuses, in four prenatal tests, were mutation carriers. One juvenile case was inherited from her mother. Our patient population is very similar to others described so far, namely in terms of mean age at onset and (CAG)(n) distribution, except perhaps for a higher frequency of large normal (class 2) alleles (3.7%). We also identify cases posing particular problems for genetic counselling, such as, 'homozygosity' that can pose a serious ethical dilemma, carriers of large normal alleles, and 'homoallelism' for a normal gene, which will demand further procedures and may delay results in presymptomatic and prenatal testing.