Genome-wide association study identifies novel type II diabetes risk loci in Jordan subpopulations.

The prevalence of Type II Diabetes (T2D) has been increasing and has become a disease of significant public health burden in Jordan. None of the previous genome-wide association studies (GWAS) have specifically investigated the Middle East populations. The Circassian and Chechen communities in Jordan represent unique populations that are genetically distinct from the Arab population and other populations in the Caucasus. Prevalence of T2D is very high in both the Circassian and Chechen communities in Jordan despite low obesity prevalence. We conducted GWAS on T2D in these two populations and further performed meta-analysis of the results. We identified a novel T2D locus at chr20p12.2 at genome-wide significance (rs6134031, P = 1.12 × 10-8) and we replicated the results in the Wellcome Trust Case Control Consortium (WTCCC) dataset. Another locus at chr12q24.31 is associated with T2D at suggestive significance level (top SNP rs4758690, P = 4.20 × 10-5) and it is a robust eQTL for the gene, MLXIP (P = 1.10 × 10-14), and is significantly associated with methylation level in MLXIP, the functions of which involves cellular glucose response. Therefore, in this first GWAS of T2D in Jordan subpopulations, we identified novel and unique susceptibility loci which may help inform the genetic underpinnings of T2D in other populations.

The Learning Curve in Endoscopic Dacryocystorhinostomy: Outcomes in Surgery Performed by Trainee Oculoplastic Surgeons.

PURPOSE: To report outcomes of endoscopic DCR (En-DCR) performed by oculoplastic trainees and describe factors to improve success rates for trainees. METHODS: Retrospective, single-centre audit of En-DCR procedures performed by three consecutive trainee oculoplastic surgeons, over a 3-year period. Trainees also completed a reflective-learning questionnaire highlighting challenging and technically difficult aspects of En-DCR surgery, with relevant tips. RESULTS: Thirty-eight consecutive independently-performed en-DCR procedures on 38 patients (mean age 58.6 ± 21.4 years) were studied. Mean time spent in the operating-theatre was 95.7 ± 27.3 minutes. Success rate for each year was 15/17(88%), 8/8(100%) and 7/13(54%), respectively, at mean follow-up 12.5 ± 12 months. The lowest success rate year coincided with use of silicone stents in 31% cases compared to 94% and 100% in the previous 2 years. In cases that failed, video-analysis highlighted inadequate superior bony rhinostomy (2 cases), incomplete retroplacement of posterior-nasal mucosal-flaps (3 cases), significant bleeding (1 case). Those who underwent revision surgery (n = 6), were found to have soft-tissue ostium and sac closure requiring flap revision. Two-cases required further bone removal supero-posterior to the lacrimal sac. Trainees-tips that helped improve their surgery related to patient positioning, instrument handling, bone removal and posture. CONCLUSION: Good surgical outcomes are achievable training in en-DCR surgery. Adequate operating time needs to be planned. Failure was primarily due to closure of the soft-tissue ostium, either secondary to inadequate osteotomy and sac-marsupialisation or postoperative scarring. Intra-operative mucosal trauma is higher amongst trainees and adjuvant silicone stenting during the training period may be of value where mucosal adhesions are anticipated.

Outcomes of posterior-approach 'levatorpexy' in congenital ptosis repair.

PURPOSE: We describe a minimally invasive technique and report our experience of posterior approach levator plication ('levatorpexy') for congenital ptosis. STUDY DESIGN: Retrospective review. PARTICIPANTS: Consecutive series of 16 patients. MATERIALS AND METHODS: Posterior approach levatorpexy was performed for congenital ptosis under general anaesthesia. This surgical procedure involves exposing the posterior surface of the levator muscle through a transconjunctival approach. The levator muscle is advanced and plicated using a suture passed through its posterior surface, partial-thickness, to tarsal plate and tied on the skin. No tissue (conjunctiva, Muller's muscle, levator) are excised during this procedure. MAIN OUTCOME MEASURES: Data collected included margin reflex distance (MRD1), symmetry of eyelid height, contour and complications. Surgery was considered successful if the following three criteria were simultaneously met: A postoperative MRD1 of ≥2 mm and ≤4.5 mm, inter-eyelid height asymmetry of ≤1 mm, and satisfactory eyelid contour. RESULTS: Mean age was 9.1 years (range 3-26 years). Mean postoperative follow-up was 8.1 months (4-24 months). Preoperative phenylephrine test was positive in 81% of patients. Mean levator function was 11 mm (5-15 mm). Mean preoperative MRD1 was 1.5 mm and the mean postoperative MRD1 was 2.6 mm. Fourteen patients (87%) achieved the desired eyelid height and fulfilled our criteria set for success. CONCLUSIONS: Posterior approach levatorpexy appears to be a safe and effective procedure for correction of congenital ptosis particularly with moderate or better levator function.

Frequency of simultaneous nasal procedures in endoscopic dacryocystorhinostomy.

PURPOSE: To assess the frequency of simultaneous nasal procedures in powered endoscopic dacryocystorhinostomy performed by oculoplastic surgeons. DESIGN OF STUDY: Retrospective, multicenter study. METHODS: Demographic, clinical, and surgical data of consecutive endoscopic dacryocystorhinostomy cases at 3 oculoplastic centers, over periods of 6, 4, and 2.2 years, respectively, were reviewed. The rates of simultaneous nasal procedures (septoplasty, turbinectomy, and polypectomy) were studied. Complication rates in the patients who had simultaneous endonasal procedures were analyzed. RESULTS: Five hundred seventy-six cases (mean age: 63.2 years [16.2-94 years], women: 67.3%). Of the total cohort of patients, 14.1% required a simultaneous endonasal procedure during endoscopic dacryocystorhinostomy, 11.9% (range among surgeons: 5.2%-15%) required septoplasty, 1.5% required middle turbinate surgery, and 0.34% required polypectomy. Of the 81 patients with concomitant procedures, 1 had postoperative epistaxis, and 1 had an asymptomatic septal adhesion. The anatomical and functional success rates for the entire cohort were 95.6% and 87.8%, respectively. CONCLUSIONS: A significant proportion of patients undergoing endoscopic dacryocystorhinostomy may require concomitant endonasal procedures. Hence, endonasal lacrimal surgeons using techniques that aim to marsupialize the entire lacrimal sac may benefit from expertize in the management of concomitant nasal pathologic study.