ABSTRACT
Mucopolysaccharidoses [MPS] are autosomal recessive disorders characterized by deficiency of lysosomal enzymes which break down the glycosaminoglycans [GAGs] which results in widespread intra and extra-cellular accumulations of GAGs. Early initiation of treatment, before the onset of irreversible tissue damage, clearly provides a favorable disease outcome. Early detection might be afforded by analysis of amniotic fluid. To report our experience of prenatal diagnosis of MPS over 14-year period for cases referred from medical centers throughout Egypt. Also to report the benefit of prenatal genetic testing in cases accompanied with genetic disorders. The present study included 33 pregnant women at risk of having a fetus with MPS. Of these cases, 3 women had more than one pregnancy evaluated. All cases had a detailed genetic ultrasound examination and a maternal serum alpha-fetoprotein [MSAFP] evaluation during the second trimester of pregnancy. Thirty-eight amniocentesis procedures were performed during the study for 2 dimensional electrophoresis [2-DEP] of GAGs. Positive consanguinity was present in near 70% [23/33] of the couples. Detailed genetic ultrasound examination revealed a case with anencephaly and another one with a twin pregnancy One case had a MSAFP of 3.6 multiple of the normal median [open neural tube defect]. Another 2 cases had a risk of having Down syndrome. Results of the 2-DEP of GAGs in amniotic fluid revealed 36.8% [14/33] affected fetuses. During the final counseling setting of the 14 cases with abnormal results, 43% [6/14] elected to continue their pregnancy while 57% [8/14] elected termination. Early prenatal screening and diagnosis, through a systematic multidisciplinary approach, to all cases of mucopolysaccharidoses are recommended, to improve the quality of life and to avoid the presence of other associated fetal developmental malformations
ABSTRACT
There continuous to be debate about how best to replace bladder function following radical cystectomy. All the usual options currently involve the use of transported intestinal segments, and all have advantage and disadvantages. The impact of each option on patient's needs is an important consideration. The aim of this study was to assess needs for patients undergoing urinary diversion as regarding to physical, psychological, social, and financial needs. The study was carried out at urology unit of El-Demerdash Hospital at Ain shams university and Urology and Nephrology Center of Mansoura University Hospitals. Sample included 100 patients whose undergoing urinary diversion from both sexes. The investigator used Patient's needs assessment questionnaire, and observational checklist to assess patient's response [unverbated needs].The study results revealed that, highest needs were the physical needs with mean +/- SD percentage 96.93 +/- 20.34 followed by unverbated needs with mean +/- SD percentage 13.61 +/- 3.51; psychological problems with mean +/- SD percentage 12.66 +/- 1.94; social needs with mean +/- SD percentage 10.03 +/- 3.31 and financial needs with mean +/- SD percentage 5.88 +/- 0.33. It can be concluded from the study that highest needs were the physical needs followed by unverbated needs; psychological problems; social needs and financial needs. The study recommended the application of guiding educational and cultural programme for patients with urinary diversion to improve their self-care for urinary diversion and urostomy. Emphasizing the importance of more perspective studies to shed light on patient's needs assessment and quality of life for patients with urinary diversion