Genetic markers for idiopathic scoliosis on chromosome 19p 13.3 among Saudi Arabian girls: A pilot study.

BACKGROUND AND OBJECTIVE: Genetic locus linked to chromosome 19p for Adolescent idiopathic scoliosis (AIS) has been described. This study was carried out with the aim to find any significant linkage or association between three microsatellite markers (D19S216, D19S894, and DS1034) of chromosome 19p13.3 in Saudi Arabian girls with AIS. MATERIALS AND METHODS: In eleven unrelated Saudi Arabian girls who were treated for AIS with Cobb angle of ≥30 degrees and in 10 unrelated healthy individuals, linkage analysis was performed using parametric and nonparametric methods by use of GENEHUNTER version 2.1. Multipoint linkage analysis was used in specifying an autosomal dominant trait with a gene frequency of 0.01 and an estimated penetrance of 80% at the genotype and the allele level. Fisher's exact test was used in the analysis of contingency tables for the D19S216, D19S894, and DS1034 markers. RESULTS: The analysis between the patient group and healthy girls showed that at genotypic level there was no significant association of the markers and scoliosis D19S216 (P = 0.21), D19S894 (P = 0.37), and DS1034 (P = 0.25). Whereas, at the allele level, there was statistically significant association between the marker DS1034 (P = 0.008) and no significant association with the other two markers D19S216 (P = 0.25) and D19S894 (P = 0.17). CONCLUSIONS: Our study shows that at genotypic level none of the markers reported earlier were associated with scoliosis but at allele level, marker DS1034 was significantly associated with patients with AIS. This allele marker on chromosome 19p appears important in the etiology of AIS.

Cancer chemotherapy-induced osteoporosis: How common is it among Saudi Arabian cancer survivors.

Objective: This study was done to assess the prevalence of cancer chemotherapy-induced osteoporosis among survivors of cancer in Saudi Arabia. Material and Methods: Patients who received chemotherapy due to malignant disease attending oncology and orthopedic clinics between June 1, 2006 and November 30, 2006, were the subjects. Age, sex, type of malignancy, last chemotherapy cycle and body mass index (BMI) of patients were entered in the database. Complete blood picture, serum calcium, phosphorous, renal function and liver function tests were done. Bone mineral density measurement of the hip and spine was done using Dual-Energy X-ray Absorptiometry. Results: We analyzed the data of 71 patients with an average age of 49.29 ± 8.24 years. Of these, 19 (25.8%) were osteoporotic and 33.87% were found to be osteopenic according to the BMD of the lumbar spine, 17 (22.6%) found to be osteoporotic and 29% found to be osteopenic per the BMD of the hip area. Patients whose BMD was normal had received their last chemotherapy cycle 48.68 ± 27.35 months earlier (P = 0.01). Osteopenia and osteoporosis were more common in patients in the age group of ≤50 years (65.6%) versus 56.4% in patients of ≥51 years (P = 0.001). Patients who received the last cycle of chemotherapy of less than 2 years were significantly more osteoporotic (81.5%-18.5%, P < 0.0001). Conclusions: Our study indicates a high prevalence of osteopenia and osteoporosis in patients who were younger than ≤50 years and who had received cancer chemotherapy. Second, bone loss continued for more than 2 years from the last cycle of chemotherapy.

Secondary osteoporosis due to sickle cell anemia: Do sex steroids play a role?

Background : The exact cause of osteoporosis in patients with sickle cell disease (SCD) is not known, and various hypotheses have been put forward. Aim: To assess the effect of sex steroids on bone mass in SCD patients. Settings and Design: In King Fahd Hospital of the university, Alkhobar, Saudi Arabia, a cross-sectional study was carried out. Materials and Methods : All patients known to suffer from SCD attending the hospital between August 2006 and August 2007 were subjects of the study. Blood was extracted for serum level of androgens, gonadotropins, thyroid stimulating hormone (TSH), calcium, phosphorus, and alkaline phosphatase. Measurement of bone mineral density (BMD) of hip and spine was done using dual-energy X-ray absorptiometry (DEXA). All tests were performed using SPSS (Statistical Package for Social Sciences), version 14.0, Chicago, Illinois, with P value of < 0.05 being statistically significant with confidence interval (CI) of 95%. Results : One hundred three consecutive patients with an average age of 27.83 years were studied. Forty-five were males; and 58, females. Low bone mass (osteoporotic/osteopenic) was found in 62.2% of the patients in the male group and 67.06% in the female group. In males, testosterone level was not significant between different groups, but total estradiol levels were significantly lower in the osteopenic and osteoporotic patients (P < 0.003 and < 0.01 respectively). In female patients, estradiol and testosterone levels were lower in osteoporotic patients in comparison to non-osteoporotic patients (P = 0.05 and 0.001). Conclusions : Our study indicates that sex steroids play a major role in the development of osteopenia and osteoporosis in patients with SCD.