Cytotoxic T Lymphocyte Antigen 4 Gene +49 A/G (rs231775) Polymorphism and Susceptibility to Systemic Lupus Erythematosus.

AIM: To assess the probable role of +49AG polymorphism in susceptibility to SLE in an Egyptian population. BACKGROUND: Systemic lupus erythematosus (SLE) is a compound inflammatory chronic disease distinguished through the release of autoantibodies. Cytotoxic T lymphocyte associated antigen-4 is a main down controller of T-cell response; its dysregulation could affect SLE pathogenesis by altered T cells activation to self-antigens. OBJECTIVES: To evaluate the CTLA-4 +49AG allelic and genotype frequency in a sample of the Egyptian population and correlate them with disease susceptibility and clinical severity. MATERIALS AND METHODS: Including 100 patients with SLE and 100 healthy controls (age and gender matched), CTLA-4 exon 1 49 A>G Genotyping was done using Real-Time PCR. RESULTS: No difference was noticed in genotype or allele distributions of the studied polymorphism between both groups. Similar genotypes and allele frequencies were established for the 2 groups after their stratification by the age of disease onset, clinical course, or severity. CONCLUSION: CTLA-4 +49AG gene polymorphism is not linked with the liability to develop SLE in the studied Egyptian population. Yet it is significantly related to disease severity.

Electrophysiological Evaluation and Clinical Implication of Martin-Gruber Anastomosis in Healthy Subjects.

Background: The aim of this study is to determine the prevalence of Martin-Gruber Anastomosis (MGA) in healthy Egyptian subjects, and to discuss the available literature regarding MGA subtypes and their clinical implications. Methods: An electrophysiological study was conducted in both forearms of 140 healthy subjects. This included the ulnar and median nerves. Compound muscle action potentials were recorded from abductor pollicis brevis, abductor digiti minimi, and first dorsal interosseous muscles. Other measurements included the compound motor action potential amplitude and its innervation ratio. Results: MGA was found in 56 of the 280 forearms. This included 20 men and 36 women. Type II MGA subtype was the most frequent in both genders. The MGA was bilateral in 6 subjects and more frequent on the right side. The highest mean amplitude and innervation ratio were recorded at first dorsal interosseus muscle. Conclusions: The prevalence of MGA in the studied sample of the Egyptian population is 20%. It is important for Hand, Orthopaedic and Neurosurgeons to be aware of this anatomic variation in order to explain paradoxical motor and sensory loss in patients.