Avaliação da Morbilidade e Mortalidade no Serviço de Ginecologia da Maternidade Dr. Alfredo da Costa. Jan/Set 1991

Foram avaliados todos os internamentos no Serviço de Ginecologia da MAC de 2 de Janeiro a 19 de Setembro de 1991. O critério de selecção baseou-se no registo de morbilidade intra-operatória e no prolongamento de tempo de internamento. Foram estudados os dados relativos à idade, factores de risco associados, risco anestésico, tipo de intervenção cirúrgica, tempo operatório, tipo de complicações e média de tempo de internamento. Verificou-se uma morbilidade global de 5,6%, tendo-se constatado uma maior incidência de complicações no grupo das histerectomias abdominais (16,8%). Nos casos com morbilidade 72% apresentavam um ou mais factores de risco associados. Ocorreram 5 lesões de órgão (0,73%), 33 complicações pós-operatórias (4,8%) e 7 reintervenções (1%). A média de internamento neste grupo de doentes foi de 11 dias.

Leber Congenital Amaurosis: Comprehensive Survey of the Genetic Heterogeneity, Refinement of the Clinical Definition, and Genotype-Phenotype Correlations as a Strategy for Molecular Diagnosis

Leber congenital amaurosis (LCA) is the earliest and most severe form of all inherited retinal dystrophies, responsible for congenital blindness. Disease-associated mutations have been hitherto reported in seven genes. These genes are all expressed preferentially in the photoreceptor cells or the retinal pigment epithelium but they are involved in strikingly different physiologic pathways resulting in an unforeseeable physiopathologic variety. This wide genetic and physiologic heterogeneity that could largely increase in the coming years, hinders the molecular diagnosis in LCA patients. The genotyping is, however, required to establish genetically defined subgroups of patients ready for therapy. Here, we report a comprehensive mutational analysis of the all known genes in 179 unrelated LCA patients, including 52 familial and 127 sporadic (27/127 consanguineous) cases. Mutations were identified in 47.5% patients. GUCY2D appeared to account for most LCA cases of our series (21.2%), followed by CRB1 (10%), RPE65 (6.1%), RPGRIP1 (4.5%), AIPL1 (3.4%), TULP1 (1.7%), and CRX (0.6%). The clinical history of all patients with mutations was carefully revisited to search for phenotype variations. Sound genotype-phenotype correlations were found that allowed us to divide patients into two main groups. The first one includes patients whose symptoms fit the traditional definition of LCA, i.e., congenital or very early cone-rod dystrophy, while the second group gathers patients affected with severe yet progressive rod-cone dystrophy. Besides, objective ophthalmologic data allowed us to subdivide each group into two subtypes. Based on these findings, we have drawn decisional flowcharts directing the molecular analysis of LCA genes in a given case. These flowcharts will hopefully lighten the heavy task of genotyping new patients but only if one has access to the most precise clinical history since birth.