Congenital heart defects in Down syndrome patients from western Saudi Arabia

To characterize congenital heart defects in individuals with Down syndrome [DS] in the Western Region of Saudi Arabia, and compare with studies from other regions of Saudi Arabia and with international figures. We conducted a prospective study including all patients attending the DS clinic at King Abdulaziz University Hospital, Jeddah, Kingdom of Saudi Arabia between October 2007 and October 2011. All patients underwent full history and physical evaluations, dysmorphologic assessment, chromosomal studies, and echocardiography. A total of 130 individuals [59% males and 41% females] with ages ranging between 0-33 years [mean=5 +/- 4.9] were included. Most individuals [90.9%] had trisomy 21 due to non-disjunction, 5.05% due to Robertsonian translocation, and 4% had mosaicism. Congenital heart defects were found in 86.8% of patients. The majority 71/92 [77%] showed combined cardiac defects, while 21/92 [23%] of DS patients had isolated congenital heart defects [CHD]. The most frequent CHDs detected in this study were: patent ductus arteriosis in 44/92 [47.8%], atrial septal defect in 38/92 [41.3%], trivial tricuspid regurge in 31/92 [33.7%], ventricular septal defect in 27/92 [29.3%], and patent foramen oval in 26/92 [28.3%]. We found a higher incidence of CHDs among DS individuals from the Western Region, compared to national and international figures. We detected more combined CHD and a different pattern of distribution

impact of prenatal diagnosis in Egyptian families with Duchenne muscular dystrophy

Duchenne Muscular Dystrophy [DMD] is one of the most common lethal X-linked recessive genetic muscle disorders. It is caused by various mutations in the dystrophin gene. Due to the lack of efficient rehabilitation and treatment, prenatal diagnosis and proper genetic counseling of families with DMD are of great importance. This study aimed to evaluate an Egyptian prenatal molecular experience considering the impact of molecular information, the availability of prenatal diagnosis, and the changing attitude and choices of the Egyptian families with DMD. The study characterized the deletion patterns in 85 Egyptian patients with DMD and 32 fetuses from 27 mothers with previous history of DMD deletion mutations. Multiplex PCR amplification of 18 exons covering the two hotspots within the dystrophin gene was pursued to detect deletions in the probands. Detection of deletions in the fetal DNA was performed by using the targeted multiplex containing the deleted exons. Forty-six out of eighty-five probands [55%] had deletion mutations. Twenty-four out of the forty-six [52%] probands had multiple exons deletion and twenty-two [48%] showed single exon deletion. Out of the thirty-two amniotic fetal samples, fourteen fetuses inherited the same deletions present in the index cases while eighteen were normal. An emerging awareness of genetic information was observed and an apparent higher number of mothers seeking prenatal diagnosis was noticed. A change of attitude in favor of choosing the decision of abortion was apparent. Molecular diagnosis is an important tool for preventive medicine. It has an obvious impact on prenatal diagnosis and accurate genetic counseling. It also seems to have an impact on the attitude and choices of families in particular and society in general

Benign X-linked Becker muscular dystrophy among Egyptian patients

This study included 30 male patients, their age ranged from 9 to 42 years. Becker muscle dystrophy [BMD] diagnosis was established in all patients on the base of the clinical and neurological assessment as well as the myopathic pattern of electromyography and the marked elevation of serum creatine phosphokinase enzyme. The diagnosis was confirmed by DNA analysis of dystrophin gene. Muscle biopsy studies were done using histochemical and enzyme histochemistry techniques as well as immunohistochemical study of dystrophin protein. BMD patients spanned a wide range of disease severity. DNA analysis revealed that either single or multiple deletion mutations within the dystrophin gene in all patients confirmed the diagnosis of BMD. Muscle biopsy studies showed changes specific for BMD as well as an abnormal expression of dystrophin protein