Validity of clinical versus genetic study for identification of the fragile X syndrome

Fragile X syndrome is the most common cause of idiopathic X linked mental retardation among boys. It presents several diagnostic problems due to variable clinical features. Inconsistencies also exist in both cytogenetic and molecular markers. This study was conducted on 100 males referred for mental retardation of unknown cause at the Alexandria University Children's Hospital with an age three years and older. The study population was screened for clinical detection of Fragile X syndrome using Ten-item checklist. Patients with positive checklist were subjected to cytogenetic analysis to detect the fragile site on X chromosome and molecular analysis for detection of the altered DNA sequence using polymerize chain reaction [PCR].The patients' ages ranged 3-14 years with a mean of 5.99 +/- 2.68 years. Their IQs ranged 33-85 with a mean of 60.22 +/- 14.05. Out of the 100 males, 22 cases scored positive on the checklist. The most frequent clinical characteristic was hyperactivity [50%] and the least frequent was macro-orchids [2%]. Cytogenic analysis was positive for the fragile site at Xq 27.3 for four cases [18.2%] and negative for 18 cases [81.8%].PCR was positive [more than 200 CGG repeats] for 7 cases [31.8%] and negative for 15 cases [68.2%]. Also, there was a highly significant correlation between the score of the checklist and the positivist of both tests [P=0.01 for each test]. In conclusion, pre-test selection based on clinical criteria is useful to identify high-risk groups and minimizes the cost-effectiveness of both cytogenesis and molecular laboratory testing of fragile X syndrome. Combination of behavioral and physical characteristics is valuable especially in pre-pubertal cases

Eliba as a rapid method for the diagnosis of group A streptococcal pharyngitis in children

Throat swabs of 60 children presented with pharyngitis were examined by conventional culturing techniques for group A beta-hemolytic streptococci [GABHS] The results obtained were compared with the rapid newly developed EL ISA assay for group A streptococcal carbohydrate antigen. The study showed a sensitivity of 95% and a specificity of 100% for this ELISA method. So the test may prove to be a useful, very rapid and easy method for diagnosing group A streptococcal pharyngitis directly from throat swabs

Estimation of serum ferritin in cases of protein energy malnutrition [PEM]

20 cases of [8 kwashirokor, 6 marasmus and 6 marasmic-kwashiorkor] were studied for their serum iron, total iron binding capacity and serum ferritin levels. Peripheral blood and bone marrow samples were taken for determination of the hemoglobin%, red blood cell count, red blood cell indices and the presence of sideroblasts. Anemia was a common finding in all the studied cases, both microcytic and macrocytic types. Significant reduction of serum ferritin, serum iron and% transfirrin saturation were also detected. Bone marrow sideroblasts were nearly absent