X-linked disorders among patients with suspected genetic disorders attending the genetic clinic in Alexandria

A total of 1825 patients referred to the Genetics Clinic, Medical Research Institute, Alexandria University were assessed to determine the frequency of X-linked disorders. It was found that 3.0% [55/1825 cases; 52 males and 3 females] had X-linked disorders; 31.0% [17/55] had fragile X-syndrome 21.8% [12/55] had androgen insensitivity syndrome, 14.5% [8/55] had muscular dystrophy, 14.5% [8/55] had biochemical disorders and 18.2% [10/55] had X-linked syndromes. The frequency of consanguinity among parents of cases with X-linked disorders was 29.1%. Positive family history was detected in 29.1% of cases. These findings are crucial for geneticists and genetic counsellers in their evaluation, diagnosis, counseling and management of patients

Cytogenetic and biochemical studies of the mentally handicapped in Alexandria

Seven hundred mentally retarded patients attending the outpatient clinic of the Human Genetics Department, Medical Research Institute were assessed to estimate the frequency of chromosomal anomalies and the biochemical defects. The group included 355 males and 345 females. Chromosomal anomalies were found in 154 patients; numerical autosomal anomalies were detected in 113 patients with trisomy 21 being the most common [107 patients], structural chromosome anomalies were present in 23 patients and sex chromosome anomalies were detected in 4 patients. Fourteen patients were fra [X] +ve constituting 3.9% of the male patients included in this study. Inborn errors of metabolism were detected in 40 patients. Twenty patients had aminoacidopathies; 10 patients had phenylketonuria, 4 had alkaptonuria, 2 had homocystinuria and 4 had generalized aminoacidurias. Twenty patients had lysosomal storage disease; 15 patients had mucopolysaccharidosis, 1 patient had mucolipidosis and 4 patients had sphingolipidosis

Implantation of posterior chamber intraocular lens under air

During the past five years, three hundred of our patients underwent extracapsular cataract extraction with posterior chamber lens implementation under air. Air was utilized because of an unexpected shortage of viscoelastic material. Manual extracapsular cataract extraction was performed, with regular irrigation and aspiration of the lens matter. Interrupted sutures were placed, leaving a 6 mm space and the anterior chamber was filled with air. Utilizing a special implantation forceps, a posterior chamber intraocular lens was placed. Air was added it necessary to maintain the anterior chamber during implantation via a 2 cc syringe with air cannula. Air facilitated implantation of posterior chamber intracoular lenses with positioning holes in the capsular bag via an implantation forceps. Air gave good centralization of the intraocular lens with little lens tilt. With air there was a gradual miosis and reduction in corneal decompensation. Intraocular pressure rises were not encountered, and air was removed by simple irrigation/aspiration. Viscoelastic material was used only in children. Sterile air is a safe, easy and less costly method of intraocular lens implantation

comparative study of the anxiolytic effect of oral clobazam and diazepam

A comparative study of the anxiolytic effect of clobazam and diazepam was carried out using a double blind trial. Three groups of patients subjected to minor oral surgery, received either placebo, 20 mg. clobazam or 10 mg diazepam orally. Anxiety was tested by MAI and HAS tests. Psychomotor performance was tested by deletion of letter test. Clobazam proved to have an anxiolytic effect equal to that of diazepam but with more extended anxiolysis; and rapid recovery of psychomotor performance than diazepam. Clobazam is superior than diazepam for use as premedication for outpatients undergoing minor oral surgery under local analgesia. It is a good, safe anxiolytic drug