Screening of SHOX gene sequence variants in Saudi Arabian children with idiopathic short stature / 소아과

PURPOSE: Short stature affects approximately 2%–3% of children, representing one of the most frequent disorders for which clinical attention is sought during childhood. Despite assumed genetic heterogeneity, mutations or deletions in the short stature homeobox-containing gene (SHOX) are frequently detected in subjects with short stature. Idiopathic short stature (ISS) refers to patients with short stature for various unknown reasons. The goal of this study was to screen all the exons of SHOX to identify related mutations. METHODS: We screened all the exons of SHOX for mutations analysis in 105 ISS children patients (57 girls and 48 boys) living in Taif governorate, KSA using a direct DNA sequencing method. Height, arm span, and sitting height were recorded, and subischial leg length was calculated. RESULTS: A total of 30 of 105 ISS patients (28%) contained six polymorphic variants in exons 1, 2, 4, and 6. One mutation was found in the DNA domain binding region of exon 4. Three of these polymorphic variants were novel, while the others were reported previously. There were no significant differences in anthropometric measures in ISS patients with and without identifiable polymorphic variants in SHOX. CONCLUSION: In Saudi Arabia ISS patients, rather than SHOX, it is possible that new genes are involved in longitudinal growth. Additional molecular analysis is required to diagnose and understand the etiology of this disease.

Screening for urine abnormalities among preschool children in western Saudi Arabia

To estimate the frequency of urinary problems among preschool children. In this cross-sectional study, 1000 preschool asymptomatic children attending the outpatient clinics of the Children's Hospital, Taif, Kingdom of Saudi Arabia between August 2013 and December 2013 were subjected to dipstick urine analysis. Microscopic examination was performed for the abnormal dipstick samples, and children with hematuria were investigated for kidney function. Dipstick urine analysis revealed abnormal findings in 25.1% of the screened children. The most common dipstick abnormalities were positive nitrite test in 18.1%, hematuria in 16.9%, and positive leukocyte esterase test in 14.3% of the cases. The most common abnormality in microscopic urine examination was crystals in 13% of the cases. Pyuria were evident in 5% of cases and hematuria in 2.5%. The most common bacteria in positive urine culture samples was Escherichia coli in 62.6%.In view of these important findings, dipstick screening should be implemented in preschool children.