4 resultados para Tecnologia de ponta e educação Barcelona (Espanha)
Resumo:
Every month we see to be published dozens of scientific papers about etiology and physiopathology of CP, imaging, treatment, survival, quality of life of patients and of mothers (just a few) and so on. Papers dealing with the feelings and the problems of siblings of children and adults with CP in the most important scientific journals are extremely rare. However in internet we can find the sites of the most important Cerebral Palsy Societies, like the British, the Australian and the American ones already devoting a special attention to the issue of siblings; we also can see several interesting blogs of parents sharing their experiences not only with the handicapped child but also with the siblings, even counseling some books written for children giving practical advices how to deal and live with a handicapped sibling. What was a surprise to me were the several sites of adults having a disabled sibling, frequently with CP, in a new situation: without parents to care them.
Resumo:
Anlise dos casos de volvo intestinal ocorridos no perodo neonatal nos ltimos 8 anos (2002 a 2010). Material e mtodos: Foram estudados os recm-nascidos admitidos na UCIN cujo diagnstico de sada foi volvo intestinal. Foram estudados os seguintes parmetros: idade gestacional e ps-natal, apresentao clnica e imagiolgica, interveno cirrgica e resultados. Resultados: Foram identificados 15 doentes 7 dos quais no ltimo ano do estudo. Sete RN eram pr-termo (PT) ou ex pr-termo. A mediana de peso ao nascer foi de 2665g (660-3900); 4 RN eram muito baixo peso. A mediana de idade de incio dos sintomas foi 7 dias; em 5 RN a doena teve incio nas primeiras 24 horas de vida; em 3 destes, o volvo ocorreu in utero. Sinais e sintomas: grande distenso abdominal-12; resduo gstrico bilioso-11; alteraes da parede abdominal-5; dejeces com sangue-4; instabilidade hemodinmica-6. Imagiologia: grande distenso de ansas, sem ar ectpico- 10 doentes; ausncia de ar no abdmen-4; trnsito intestinal contrastado sugestivo de malrotao e volvo-3; ecografia e Doppler abdominal com sinal de whirlpool-2. Todos foram submetidos a cirurgia de urgncia, sendo o volvo confirmado intraoperatoriamente; foi necessria resseco intestinal em 9 doentes; 3 ficaram com sndrome do intestino curto; registou-se um bito por falncia multi-orgnica no perodo ps-operatrio. Concluso: Foi encontrado um elevado nmero de casos de volvo intestinal em RN pr-termo ou ex pr-termo, de volvo in utero e de elevada ocorrncia de casos no ltimo ano do estudo. Resduo gstrico bilioso e distenso abdominal foram os sintomas mais frequentes de volvo e devem ser tomados em considerao no diagnstico diferencial com outras situaes cirrgicas abdominais. As sequelas so potencialmente graves.
Resumo:
Objectives: Chorionic Vilus Sampling (CVS) has several advantages over amniocentesis: it may be performed at an earlier gestational age, the results are quicker to obtain and theres a lower miscarriage risk 1%. However, the higher prevalence of discrepant fetal and vilus sampling materials karyotype findings is a disadvantage of this technique 0.5%. This is caused, amongst other causes, by placental mosaicism which consists of two genetically different cell lines. There are three types of placental mosaicism according to the abnormal cell line location: Type I in the cytotrophoblast; Type II in the vilus stroma; Type III in both the above locations. Material and Methods: We present a case report about a 36-year-old pregnant woman going through our Departments 1st trimester combined screening program; a CVS was performed, which showed Confined Placental Mosaicism (CPM). Results and Conclusion: Although the pregnant woman was in the low-risk group for aneuploidy, the patient wanted the cytogenetic study to be performed in order to reduce maternal anxiety. CVS was performed at the gestational age of 12 weeks + 5 days and the karyotype was 47XY+2/46XY. For the correct interpretation of this data an amniocentesis was performed at the gestational age of 15 weeks + 6 days, which showed a 46XY karyotype. We therefore conclude that the cytogenetic analysis of the CVS was the result of a CPM. A careful follow-up including fetal echocardiogram and seriated ultrasonographic monitoring was used to safely exclude malformations and fetal growth restriction. We verified no occurences throughout pregnancy, delivery and perinatal period. CVS practice was recently implemented in our country and has many advantages over amniocentesis. Besides the fact that an earlier gestational age usually means less affective bonding to the fetus and therefore makes medical termination of pregnancy somewhat less difficult, one should consider specific situations like the one reported in which CPM may be diagnosed. This condition is associated with increased risk of fetal growth restriction, so the clinician should be aware of the need for a more careful follow-up, since perinatal complications, which should be anticipated and treated, can be expected in 16-21% of these cases.
Resumo:
Acute otitis media (AOM) is the most common infection in childhood, resulting from both anatomic and immunologic specificities of this age group. Recurrent AOM has been defined as one of the warning signs for primary immunodeficiencies (PID), In this study we evaluated the strength of recurrent AOM as clinical predictor of PID. Methods: Retrospective study (August 2010 - December 2013) which included all patients referred to PID appointment because of recurrent AOM (= 8 AOM episodes/year). Syndromic patients or those presenting with another warning sign for PID were excluded. Clinical, demographic and laboratory results were analized and statistical analysis was made using SPSS 20. Results: Seventy-five patients were included (median age 37,8 months; 62,7% male gender), corresponding to 15% of all first appointments. Other comorbidities were present in 20% of the patients and 17% had ORL surgery prior to PID referral. In most patients, the immunologic screening consisted on the evaluation of humoral function, but in selected cases other studies were performed (namely complement and lymphocyte immunophenotyping). A PID was identified in 12 children (16,0%) and the majority of these patients had other distinctive feature (personal or familiar antecedent of infection or auto-immunity, 66,7%, p<0,05). Nine children (12,0%) underwent prophylactic cotrimoxazole. The average length of follow-up was 11,2 months. Conclusion: Despite being a very frequent cause of immunologic screening, in this study recurrent AOM was not found to be a good predictor of underlying PID, unless the patients presents other significant personal or family history.
