Genetic Markers for Adolescent Idiopathic Scoliosis on Chromosome 19p13.3 among Saudi Arabian Girls.

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.

Reassessment of osteoporosis-related femoral fractures and economic burden in Saudi Arabia.

UNLABELLED: The current study reassesses the prevalence of fragility fractures and lifetime costs in the Eastern Province of Saudi Arabia. Forty-two percent (391) of the fractures were at the neck of the femur, and 38.6 % (354) were inter-trochanteric fractures. The overall incidence was assessed to be 7528 (1,300,336 population 55 years or older) with the direct cost of SR564.75 million ($150.60 million). A National Fracture Registry and osteoporosis awareness programs are recommended. PURPOSE: Proximal femur fragility fractures are reported to be increasing worldwide due to increased life expectancy. The current study is carried out to assess the incidence of such fractures in the Eastern Province of Saudi Arabia and to assess the costs incurred in managing them annually. Finally, by extrapolating the data, the study can calculate the overall economic burden in Saudi Arabia. METHODS: The data of fragility proximal femur fractures was collected from 24 of 28 hospitals in the Eastern Province. The data included age, sex, mode of injury, type of fracture, prescribed drug (and its cost), and length of hospital stay. Population statistics were obtained from the Department of Statistics of the Saudi Arabian government Web site. RESULTS: Twenty-four hospitals (85 %) participated in the study. A total of 780 fractures were sustained by 681 patients. Length of stay in the hospital averaged 23.28 ± 13.08 days. The projected fracture rate from all the hospitals would be 917 (an incidence of 5.81/1000), with a total cost of SR68.77 million. Further extrapolation showed that the overall incidence could be 7528 (1,300,336 population 55 years or older) with the direct cost of SR564.75 million ($150.60 million). CONCLUSIONS: Osteoporosis-related femoral fractures in Saudi Arabia are significant causes of morbidity besides incurring economic burden. We believe that a National Fracture Registry needs to be established, and osteoporosis awareness programs should be instituted in every part of Saudi Arabia so that these patients can be diagnosed early and treated appropriately to reduce both the number of fractures and the economic burden of the fractures.

Assessment of low vitamin D among Saudi Arabians. Did we overshoot the runway?

OBJECTIVES: To compare the performance of 3 commonly used 25-hydroxyvitamin D (25-OHD) assays among a sample of the Saudi population. METHODS: This cross-sectional study was carried out between January 2011 and December 2012 at King Fahd Hospital of the University, Al-Khobar, Saudi Arabia. After informed consent, blood samples for measurement of 25-OHD level was extracted from 200 adults. The vitamin D levels of each individual were determined using chemiluminescence immunoassay (CLIA), radio-immuno assay (RIA), and liquid chromatography-tandem mass spectrometry (LC-MS/MS) assay. Assays were also compared through commonly used cut-points for classification of vitamin D deficiency. Bias between assays was evaluated using Bland-Altman plots. RESULTS: The average age of patients was 45.7+/-16.1 years. A significant difference between the assays was found. The mean 25-OHD levels were highest for the LC-MS/MS (21.65 ng/mL, 95% CI 19.74-23.56), intermediate for RIA (16.607 ng/mL, 95% CI 14.87-18.32), and lowest for CLIA method (13.864 ng/mL, 95% CI 12.109-15.618). Using 30 ng/mL as a cutoff value, only 6% was found to have normal levels of 25-OHD using CLIA, 9% using RIA, and 22% using LC-MS/MS. CONCLUSION: Levels of 25-OHD and the prevalence of vitamin D deficiency are dependent on the assay used. The reported high prevalence of hypovitaminosis D among the Saudi population can be partially explained by the use of assays that underestimate vitamin D levels.

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.

Are we missing osteoporosis-related vertebral fractures in men?

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 ≥ 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.

Genetic markers for idiopathic scoliosis in arab population: a pilot study.

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.

Does scoliosis causes low bone mass? A comparative study between siblings.

The aim of this study is to assess the prevalence low bone mass among girls with adolescent idiopathic scoliosis (AIS) and their siblings. The subjects of this study were Saudi Arabian girls with AIS. Patients had their weight and height measured to calculate their body mass index (BMI). Clinical examination and investigations were done to rule out any other cause of scoliosis. All had bone mineral density (BMD) measurement of hip area and the spine using DEXA scan, Hologic Inc. Patients with a BMD of < -2.6 was taken as osteoporotic and those between < -1 and -2.5 was taken as osteopenic for analysis. As control subjects, siblings of the patients with normal spine had their BMI calculated and BMD measurement done. We were able to analyze the data of 32 girls with an average age of 18.42 +/- 5.71 (14-26) years with mean BMI of 17.7 +/- 0.69 (16.5-18.5) kg/M2. Analysis of the scans of the hip revealed that 62.5% of the patients were osteoporotic with BMD of 0.837 (0.697-0.936) +/- 0.04, T-score -3.8 +/- 0.56 (-2.6 to -3.9) and Z-score. Nine (28.1%) were osteopenic with BMD of 0.768 +/- 0.15 (0.638-0.878), mean T-score of -1.6 (-1.1 to 2.5) and Z-score -3.5 +/- 0.63 (-2.9 to -3.9). Analysis of BMD of the spine showed similar results. In comparison to the scoliotics, girls with normal spine had higher BMI and BMD which was statistically significant at P < 0.001. T- and Z-score was also lower in scoliotic girls in comparison with girls with normal spine significant at P < 0.001 (CI 95%). Our study indicates that the scoliosis causes osteopenia and osteoporosis among girls while their siblings with normal spine remain with normal bone mass.

Can double gloves improve surgeon-patient barrier efficiency?

The aim of this study was to compare double gloves (DGs) with single gloves (SGs) during orthopedic and trauma surgery in prevention of blood contact between patients and surgeons. DGs and SGs were collected after orthopedic operations, tested for size, site, and number of perforations. Medical records were reviewed for age, sex, type of operation, duration, and postoperative wound infection. Data were compared using t-test with level of statistical significance at P < 0.05. Five hundred seven operations yielded 1204 DGs and 830 pairs SGs. In DGs, perforations were detected in 220 outer glove and 39 inner glove (10.7%). In SGs, 226 perforations were detected (13.3%). The incidence of perforations in inner gloves of the double indicator glove was 1.6% (P < 0.001). During surgery, perforations were recognized in DGs in 67% compared with 12% in SGs (P < 0.005). This study confirms that DGs form an efficient barrier between patients and surgeons.