RESUMO
We estimated pollution in Lake Edku and the Mediterranean Sea, El-Maadiya Region, with 3 aromatic amines [1-naphthylamine, 2-naphthylamine and benzidine] in the muscle tissue of fish. There were marked seasonal variations in the aromatic amine levels. We also determined oxidative stress [blood glutathione, and catalase activity] and genotoxic effects [chromosomal aberrations and urinary metabolites] in fishermen from each area. The fishermen suffered from oxidative stress and had high levels of the urinary metabolite sulfanilamide [mean [microg/mg creatinine]: Lake Edku 20.7, Mediterranean 14.5, controls 5.3]. Frequencies for total chromosomal aberrations were significantly raised in the peripheral blood lymphocytes of fishermen in both areas [frequency [per 100 metaphases]: Mediterranean 67, Lake Edku 45, controls 14]
Assuntos
Humanos , Animais , Masculino , Adulto , Poluentes da Água , Dano ao DNA , Mutagênicos , Peixes , Estresse Oxidativo , SulfanilamidasRESUMO
During 1992-2001, 673 Down syndrome patients were referred to the Department of Human Genetics in Alexandria. Regular [free] trisomy 21 constituted 95.4% of cases; Robertsonian translocation 2.7%; and mosaicism 0.7%. In 8 cases, regular trisomy 21 was associated with structural or numerical chromosome anomalies. Translocation was parentally inherited for 33.3% of cases and maternal transmission was twice as common as paternal. Two translocated Down syndrome fetuses were diagnosed prenatally in at [14;21] carrier mother. Mean maternal age was high in regular trisomy 21 [38.2 years] but not in translocation [25.3 years]. There was an excess of males in all groups except the mosaic group where the male:female ratio was 0.67. Cytogenetic investigations assist in patient management and family counselling