Premarital genetic investigations: effect of genetic counselling

Over a period of 2 years, 86 couples [172 cases] were referred to the genetics clinic of the National Research Centre for premarital genetic counselling. About 73.25% had a family history of different genetic disorders. Consanguinity was found in 86.04%. Genetic investigations revealed chromosomal abnormalities in 26 cases [15.11%]; 23 cases [13.37%] had other abnormal results. After genetic counselling, postconceptional follow-up was carried out for 30 couples; 10 of them required amniocentesis that showed abnormal fetuses in 2 mothers. Other couples had normal offspring. We conclude that premarital genetic counselling is of great use in the detection of genetic disorders and is an essential step in changing attitudes towards premarital testing and reducing consanguineous marriage

genetic epidemiological study of malformations at birth in Egypt

A total of 3000 consecutive neonates delivered in a maternity hospital in Giza, Egypt, were subjected to full clinical and genetic evaluation. Social data included parental consanguinity and social class. The prevalence of malformations in the 3000 hospital live births and stillbirths was 3.17%. Malformed neonates [95] were classified into 13 groups according to the system affected using World Health Organization classification of congenital malformations. The most common anomalies were: central nervous system [29.5%], musculoskeletal system [20.0%] and genetic syndromes [13.7%]. Parental consanguinity was found in 31.79% of all cases and in 55.0% of malformed cases, thus illustrating the deleterious effects of consanguinity

Effect of vitamin A [retinoic acid] on the fine structure of ascites sublimes of the 13762 rat mammary adenocarcinoma

Cytological differences have been observed in ascites sublines of the 13762 rat mammary adenocarcinoma after treatment with retinoic acid. Before treatment, both MAT-B[1] and MAT-C[1] cells have large irregularlyshaped nuclei, with one or two nucleoli. The cytoplasm contains well developed Golgi complex [Gs and GV] and much endoplasmic reticulum [RER]. Some MAT-B[1] and MAT-C[1] cells contain a small number of [orthodox] configuration mitochondria while others reveal a large number of [condensed] configuration mitochondria. MAT-B[1] and MAT-C[1] after being subjected to vitamin A acid showed that the secretory apparatus [i.e. Golgi complex] has regressed and the endoplasmic reticulum also diminished. In cells containing either [orthodox] or [condensed] configuration, mitochondria revealed vacuolization. In addition, there is an obvious decrease in the number of [condensed] configuration mitochondria due to fusion and necrosis, and an increase in the number of [orthodox] configuration mitochondria due to fragmentation

modified wells operation for complete rectal prolapse

65 patients with complete rectal proplase operated upon by a modified Wells operation, in which the polyvinyl alcohol sponge is fixed to the promontory of the sacrum by two rows of sutures on either side of the midline. No recurrence of the prolapse occured in any of the cases and most notably no bladder or sexual dysfunction