Background: Autism is a neurodevelopmental disorder characterized by clinical, etiologic and genetic heterogeneity. Many surveys revealed cytogenetically visible chromosomal abnormalities in 7.4% of autistic patients documented as well as several submicroscopic variants. This study had been conducted to identify some aspects that might be involved in the pathogenesis of autism which is necessary for offering proper genetic counseling to families of autistic patients and their role in the prenatal diagnosis of autism.Methods: This cross sectional study was conducted at the Child Psychiatry Clinic, Pediatric Hospital, Ain Shams University on 30 autistic patients who were subjected to the following tools: Confirmation of diagnosis using DSM-IV-TR criteria, IQ assessment using Stanford-Binet intelligence scale and assessment of severity of autistic symptoms using childhood autism rating scale (CARS). Full clinical examination, neurological examination, EEG, audiological assessment were also done. High resolution karyotyping was done for detection of numerical or structural chromosomal abnormalities as deletion, duplication, translocation of chromosomes.Results: All the results of cytogenetic analysis were normal with no detectable numerical or structural chromosomal abnormalities. Males are affected more than females, only one case had history of drug intake (progestin), two cases had history of anti-D injection and two cases had history of diabetes mellitus during pregnancy. Four cases had history of respiratory distress and seven cases had history of jaundice. Two cases had history of generalized tonic clonic convulsion and four cases had history of EEG abnormalities. Fifteen cases of our autistic patients had mild mental retardation and six cases had moderate mental retardation.Conclusion: Chromosomal abnormalities were not detected in the studied autistic children, and so the relation between the genetics and autism still needs further work up with different study methods and techniques.
Mutations of MECP2 analysis were detected in 66.7% of RTT cases. There were relationships between the severity score, clinical manifestations, and MECP2 gene mutations. However, there was no relationship between the severity score and specific MECP2 gene mutation.
Background:The predominant part of IVF cycles results in embryo transfer, but only about one third of all cycles reach clinically achieved pregnancy. This is evidence that most embryos failed in an early stage of pregnancy achievement. Recurrent implantation failure after IVF procedures emphasize the clinical importance of this crucial step in assisted reproductive technology. Repeated unsuccessful IVF attempts force efforts to investigate the firm mechanism of the implantation and to find approach to increase pregnancy outcome success. Plenty of factors have been recognized to affect either success, or failure rate of IVF embryo transfer. Maternal side factors include age, parity, hormonal levels before stimulation, antral follicles count, endometrial thickness and quality of transformed endometrium. Other factors, having functions in coagulation and fibrinolysis cascades, were found to be connected with the transformation processes in the endometrium during the implantation.
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