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1.
Bulletin of Alexandria Faculty of Medicine. 2008; 44 (4): 683-690
in English | IMEMR | ID: emr-99549

ABSTRACT

The aim of this work is to study the frequencies of different HL4 class I subtypes in Egyptian patients with remitting relapsing MS in order to find out genetic determinants to disease susceptibility among this genetic group. The study was carried out on twenty patients having Ms according to McDonald's criteria, excluding those with clinical courses other than the remitting-relapsing one. All patients subjected to complete history taking, full physical and neurological examination, routine lab investigations, MRI of the brain and/or spinal cord, also HLA class I typing using the complement dependent microlymphocytotoxicity test. The result of HLA typing were compared to twenty healthy controls matched for age. The study revealed the following results. o The most frequent HLA class I subtypes in our study group were: HLA-A1 [40%], A2 [30%], B7 [25%], A28 [15%], and Cw6 [15%]. o Among those subtypes only HLA-B7 showed a statistically significant association with the MS patients suggesting a role of this HLA class I subtype in modulating susceptibility to the disease. o The HIA-Cw4 subtype showed a tendency toward an association with the control group approaching but not reaching a statistical significance suggesting a role of this subtype as a protective factor against MS. However further confirmation is required to support this finding. o The HLA-B7 subtype was significantly associated with the presence of emotional disturbance in the MS patients suggesting a role of this subtype in modulating the clinical picture of the disease. o The HLA-A2 subtype was significantly associated with the absence of sphincteric disturbance in the MS patients suggesting a protective role of this subtype against this particular clinical defect. This subtype may also have a similar protective role against developing emotional disturbance although this finding was only near significant. The above mentioned results agreed with a few reports from some parts of the world and disagreed with many others suggesting a considerable difference in genetic determinants of MS between different populations


Subject(s)
Genetic Predisposition to Disease , HLA Antigens , Cytotoxicity Tests, Immunologic/methods , Magnetic Resonance Imaging
2.
Bulletin of Alexandria Faculty of Medicine. 2007; 43 (2): 275-278
in English | IMEMR | ID: emr-105841

ABSTRACT

The association of chromosomal imbalance and neurological abnormalities is well known. These chromosomal abnormalities may indicate that chromosomal sites where atypical neurological characteristics could be mapped. The purpose of our study was to search for cytogenetic abnormalities in patients with juvenile myoclonic epilepsy. This work was carried out on fifteen patients presenting to Epilepsy Centerof Neurology Department of Alexandria Main University Hospital. The age of juvenile myoclonic patients ranged from 16 to 38 years. Ten patients have myoclonic and generalized Tonic-Clonic seizures, 3 patients have myoclonic, absences, and generalized tonic-clonic seizures, and 2 patients have myoclonic seizures only. All patients were cytogenetically normal as all of them had normal karyotypes


Subject(s)
Humans , Male , Female , Cytogenetic Analysis , Chromosome Aberrations , Electroencephalography
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