ABSTRACT
Objective: To use chorionic villi sampling [CVS] and amniocentesis to determine the genotyping of Gaucher Disease [GD] of fetuses of pregnant mothers who had a previous child affected by GD
Methods: The study was conducted between January 2009 and December 2012. It included 42 pregnant women that gave informed written consent. Thirty mothers presented early so they underwent CVS at 1012 weeks of pregnancy while 12 mothers presented later and underwent amniocentesis at 1416 weeks. Strip assay for the identification of Glucocerebrosidase [GBA] gene mutations in the samples of chrorionic villi and amniotic fluid was based on polymerase chain reaction [PCR] and reverse hybridization
Results: The age of the studied pregnant women ranged from 19 to 26 years. Consanguinitywas present in 38 cases. Eighteen women were pregnant in affected fetuses. The results of genotyping revealed 15 cases were homozygous L444P/L444P and one case homozygous [N370s/N370s] while two cases were heterogeneous [L444P/D409H]. Twenty-four pregnant women had carrier fetuses which were all heterozygous L444P
Conclusion: This study highlights the findings of an extended gene mutation examination for prenatal diagnosis of Guacher Disease. The study found out that the most common mutation was L444P/L444P
ABSTRACT
A factual clinical approach concerning the management of bronchial asthma patients in an Egyptian experience is the main objective of this study in order to disclose any defects and try to amend them. A total of 870 patients were included in this study. Only 750 were analyzed as 120 of them were considered not to be genuine asthmatics and were thus excluded. 41.3% of asthmatic cases were managed by general practitioners [GPs], while 37.6% were managed by chest specialists. Other specialties including pediatricians, general medical physicians and allergy specialists managed 21.1%. In 89.5% of the patients, ventilatory functions were not done. The classification management according to GINA and Egyptian guidelines were not possible in 91.4% and 93.1%, respectively. The main bulk in this defect was among general practitioners [90%], the least was among chest specialists [49.2%]. Other specialists shared in this defect by 87.3%. Non-compliance in the management was essentially in inhalation therapy [40.2%], followed by corticoid therapy [34.89%]. Cost of drugs was prohibiting in 19.2% of cases as an outcome 35.3% of patients could be relieved in their acute episodes, while only 15.5% could achieve control of their disease. All these parameters were also analyzed according to the managing speciality