STUDY DESIGN: Cross-sectional screening. PURPOSE: This study was conducted to determine if there is any association of the three microsatellite markers on chromosome 19p 13.3 in unrelated Saudi Arabian girls who were suffering with adolescent idiopathic scoliosis (AIS) and their healthy siblings. OVERVIEW OF LITERATURE: The genetic influence on the development of familial scoliosis has been previously described, but the genetic influence on AIS still remains unknown. Three microsatellite markers (D19S216, D19S894, and DS1034) of chromosome 19p 13.3 were reported to be significantly associated with familial scoliosis. This cross-sectional screening was carried out in AIS patients and their siblings. METHODS: For eleven Saudi Arabian girls who were treated for AIS and their 11 siblings, we performed a linkage analysis using parametric and nonparametric methods and using GENEHUNTER ver. 2.1. Multipoint linkage analysis was used to specify an autosomal dominant trait with a gene frequency of 0.01 at the genotypic and the allelic levels. One sided Fisher's exact tests were used in the analysis of the contingency tables for the D19S216, D19S894 and DS1034 markers. RESULTS: The analysis between the patient group and the healthy siblings showed that at the genotypic level there was a significant association of the markers and scoliosis (D19S894 [p=0.036], D19S216 [p=0.004], and DS1034 [p=0.013]). Yet at the allelic level, there was no statistically significant association of the markers between the AIS patients and their siblings. CONCLUSIONS: Our pilot study shows that there is a genetic influence between the AIS patients and the siblings. We believe large scale genetic screening is warranted for the patients with AIS to identify beyond any doubt the influence of these markers.
Adolescent ; Arabs ; Genes, vif ; Genetic Markers ; Genetic Testing ; Humans ; Mass Screening ; Microsatellite Repeats ; Pilot Projects ; Scoliosis ; Siblings ; Stress, Psychological

STUDY DESIGN: Retrospective study. PURPOSE: To assess the prevalence of osteoporosis related spinal fractures among Saudi Arabian males. OVERVIEW OF LITERATURE: Vertebral fractures are the most common complication of osteoporosis and is the first sign in both sexes and only 25 to 30% of radiographically observed vertebral deformities are recognized. METHODS: We analyzed the chest radiographs of consecutive Saudi Arabian men > or = 50 years and who visited the emergency room of King Fahd University Hospital, Al Khobar, Saudi Arabia for a period of 12 months between November 1, 2007 and October 31, 2008. The site and type of fractures were classified as per the semi-quantitative technique. The other data retrieved from the medical records of patients included medications and clinical investigations for osteoporosis. RESULTS: Nine hundred seventy chest radiographs were performed during the study period and 876 radiographs could be analyzed. One hundred fifteen patients (13.1%) had 157 fractures. The mean age was 67.85 +/- 10.1 years. There was more than one fracture in 21 patients (18.2%). The majority of fractures (n = 102, 64.9%) were observed in thoracic spine. Seventy-one (45.2%) fractures were classified as mild, 54 (34.4%) were moderate and 32 (20.4%) were severe. For 26 (22.6%) patients, the report of the radiologist highlighted the fracture. CONCLUSIONS: Saudi Arabian males with osteoporosis continue to be missed despite the high prevalence osteoporosis leading to vertebral fractures. We believe it is important for physicians to identify vertebral fractures early and treat then appropriately before an extremity fracture occurs with high mortality.
Congenital Abnormalities ; Emergencies ; Extremities ; Humans ; Male ; Medical Records ; Osteoporosis ; Prevalence ; Retrospective Studies ; Saudi Arabia ; Spinal Fractures ; Spine ; Thorax

STUDY DESIGN: Prospective case-controlled study. PURPOSE: This study aimed to assess genetic influence in Saudi Arabian children with adolescent idiopathic scoliosis (AIS). OVERVIEW OF LITERATURE: The genetic locus linked to chromosome 19p for idiopathic scoliosis has been described. A pilot study conducted at King Fahd Hospital of the University, Al-Khobar showed that three microsatellite markers (D19S216, D19S894, and DS1034) of chromosome 19p13.3 were significant in Saudi Arabian females compared with healthy subjects. METHODS: A total of 100 unrelated Saudi Arabian girls treated for AIS, their parents, healthy siblings, and healthy subjects were recruited for genetic analysis of markers on chromosome 19p13.3. After informed consent was obtained from their parents, blood samples were collected and parametric and nonparametric linkage analyses were performed using GENEHUNTER ver. 2.1. Multipoint linkage analysis was used to specify an autosomal dominant trait with a gene frequency of 0.01 and an estimated penetrance of 80% at the genotypic and allelic levels. RESULTS: Five hundred blood samples were collected and analyzed for microsatellite markers (D19S216, D19S894, and DS1034) of chromosome 19p13.3. Comparison among patients, family members, and healthy subjects revealed no significant association between markers and scoliosis at the genotypic level: D19S216 (p=0.21), D19S894 (p=0.37), and DS1034 (p=0.25). However, at the allelic level, a statistically significant association was observed for marker DS1034 (p=0.008), and marker D19S216 showed significance between fathers and patients (p<0.001) compared with patients and mothers. The other two markers, D19S216 (p=0.25) and D19S894 (p=0.17), showed no significant association between patients and mothers. CONCLUSIONS: At the allelic level, marker DS1034 was significantly associated with AIS patients and their fathers. This allelic marker on chromosome 19p13.3 appears to be important in AIS etiology.
Adolescent* ; Case-Control Studies ; Child ; Fathers ; Female* ; Genes, vif ; Genetic Loci ; Genetic Markers* ; Healthy Volunteers ; Humans ; Informed Consent ; Microsatellite Repeats ; Mothers ; Parents ; Penetrance ; Pilot Projects ; Prospective Studies ; Saudi Arabia ; Scoliosis* ; Siblings

BACKGROUND: Polycystic ovary syndrome (PCOS) is a common reproductive disorder. Obesity, which is linked with lower adiponectin levels, increases a woman's risk of developing PCOS; however, the association between adiponectin and PCOS is controversial. Adiponectin levels could be affected by single nucleotide polymorphisms (SNPs) in the ADIPOQ gene. This study aimed to test the relationship between serum adiponectin and PCOS in Jordan and the association between the rs2241766, rs1501299, and rs266729 SNPs in the ADIPOQ gene and PCOS. METHODS: One hundred and fifty-four women with PCOS and 149 age- and body mass index–matched normally menstruating controls were recruited. Serum adiponectin levels were measured using enzyme-linked immunosorbent assay. Genotyping was performed using polymerase chain reaction–restriction fragment length polymorphism analysis. RESULTS: Serum adiponectin levels were significantly lower (P=0.0064) in PCOS women and rs1501299 (+276 G/T) genotype distributions were significantly different (P=0.01) between them and normally menstruating women. Multivariate analysis revealed that adiponectin levels remained significantly lower in PCOS women (P=0.001; odds ratio [OR], 0.9; 95% confidence interval [CI], 0.84–0.96). The GT genotype of rs1501299 increased the risk of PCOS (P < 0.001; OR, 5.46; 95% CI, 2.42–12.33) and increased the risk of PCOS by three-fold (P < 0.001; OR, 3.00; 95% CI, 1.36–6.60) relative to the TT genotype. The GG genotype increased the risk of PCOS as well (P < 0.001; OR, 3:00; 95% CI, 1.36–6.60). CONCLUSION: PCOS is associated with lower serum adiponectin levels independent of age and body mass index. The T allele of the rs1501299 (+276 G/T) SNP of the ADIPOQ gene protects against PCOS.
Adiponectin* ; Alleles* ; Body Mass Index ; Enzyme-Linked Immunosorbent Assay ; Female ; Genotype ; Humans ; Insulin Resistance ; Jordan* ; Multivariate Analysis ; Obesity ; Odds Ratio ; Polycystic Ovary Syndrome* ; Polymorphism, Single Nucleotide