A genome wide association study identifies new genes potentially associated with eyelid sagging

Sagging eyelid is considered as an outward of skin ageing and may cause medical issues. However, little is known about the factors involved in sagging eyelid. The study, which aims at determining genetic risk factors for eyelid sagging, was conducted in a cohort of 502 unrelated Caucasian women living in the Paris region. All included participants were aged between 44 and 70 years old (mean age, 57.6 years old). The severity of sagging eyelid was graded in 6 categories by a dermatologist using standardized photographs of the face. A genome wide association study adjusted on potential risk factors (including age and smoking habits) was conducted to identify genetic associations. Two single nucleotide polymorphisms in total linkage disequilibrium on chromosome 10, rs16927253 (P = 7.07 × 10^‐10) and rs4746957 (P = 1.06 × 10^‐8), were significantly associated with eyelid sagging severity. The rs16927253‐T and rs4746957‐A alleles showed a dominant protective effect towards eyelid sagging. These polymorphisms are located in intronic parts of the H2AFY2 gene which encodes a member of the H2A histone family and very close to the AIFM2 gene that induces apoptosis. Additionally, single nucleotide polymorphisms with a false discovery rate below 0.25 were located nearby the type XIII collagen COL13A1 gene on chromosome 10 and in the ADAMTS18 gene on chromosome 16. Several relevant genes were identified by the genome wide association study for their potential role in the sagging eyelid severity.     

Prevalence and behavioural risks for HIV and HCV infections in a population of drug users of Dakar,Senegal: the ANRS 12243 UDSEN study

Objectives

Data on the extent of drug use and associated HIV, hepatitis C and hepatitis B infection in West Africa are lacking. The objectives of ANRS12244 UDSEN study were to estimate the size of the heroin and/or cocaine drug user (DU) population living in the Dakar area (Senegal), and assess the prevalence and risk factors of HIV, hepatitis C virus (HCV) and hepatitis B virus (HBV), including behavioural determinants in this population, in order to set up an integrated prevention and treatment programme for DUs.

Design and methods

A capture-recapture method was applied for population size estimation, whereas the respondent-driven sampling (RDS) method was used to recruit a sample of DUs living in the Dakar area and determine HIV, HBV and HCV prevalence. Behavioural data were gathered during face-to-face interviews, and blood samples were collected on dried blood spots for analysis in a central laboratory. Data analysis was performed using the RDS analysis tool, and risk factors were determined by logistic regression. Access to laboratory results was organized for the participants.

Results

The size of the DU population in the Dakar area was estimated to reach 1324 (95% confidence interval (95% CI: 1281–1367)). Based on the 506 DUs included in the study, the HIV, HCV and HBV prevalence were 5.2% (95% CI: 3.8–6.3), 23.3% (95% CI: 21.2–25.2) and 7.9% (95% CI: 5.2–11.1), respectively. In people who inject drugs (PWID), prevalence levels increased to 9.4% for HIV and 38.9% for HCV (p=0.001 when compared to those who never injected). Women were more at risk of being HIV infected (prevalence: 13.04% versus 2.97% in males, p=0.001). Being PWID was a risk factor for HCV and HIV infection (odds ratio, OR: 2.7, 95% CI: 1.7–4.3, and OR: 4.3, 95% CI: 1.7–10.7, respectively), whereas older age and female sex were additional risk factors for HIV infection (10% increase per year of age, p=0.03 and OR: 4.9, 95% CI: 1.6–156, respectively). No specific determinant was associated with the risk of HBV infection.

Conclusions

High HIV and HCV prevalence were estimated in this population of DUs (including non-injectors) living in the Dakar area, Senegal, whereas HBV prevalence was close to that of the global Senegalese population, reflecting a risk of infection independent of drug use. Women seem to be highly vulnerable and deserve targeted interventions for decreasing exposure to HIV, while behavioural risk factors for HIV and HCV include the use of unsafe injections, reflecting the urgent need for developing harm reduction interventions and access to opioid substitution therapy services.     

Management of Locally Recurrent Retroperitoneal Sarcoma in the Adult: An Updated Consensus Approach from the Transatlantic Australasian Retroperitoneal Sarcoma Working Group

Annals of Surgical Oncology - Surgery is the mainstay of treatment for retroperitoneal sarcoma (RPS), but local recurrence is common. Biologic behavior and recurrence patterns differ significantly...     

Surgical Treatment of Chronic Lateral Ankle Instability Using an Inferior Extensor Retinaculum Flap: A Retrospective Study

Chronic lateral ankle instability causes significant problems with physical activity. The purpose of the present study was to evaluate the results of ligamentous retensioning combined with reinforcement using an extensor retinaculum flap. A consecutive series of 38 patients were included with a minimum follow-up duration of 2 years. The functional results were assessed using the Karlsson and American Orthopaedic Foot and Ankle Society scale scores. The pre- and postoperative radiologic assessment was performed using stress radiographs to measure varus tilt and anterior drawer tests. All 38 patients were followed up for 2.5 to 7.2 years, and 35 patients were satisfied. The American Orthopaedic Foot and Ankle Society scale score had improved significantly from 57 (range 20 to 70) points preoperatively to 95 (range 80 to 100) points postoperatively (p < .0001), and 35 patients believed their ankle was more stable after surgery. The patients had returned to their previous sports activities an average of 4.7 (range 2 to 12) months after surgery. On the stress radiographs, the mean talar tilt angle had improved significantly from 15.2° (range 6° to 26°) preoperatively to 3.8° (range 1° to 8°) at the final follow-up visit (p < .001), and the mean anterior talar had improved significantly from 13.2 (range 8 to 18) mm preoperatively to 4 (range 4 to 7) mm at the final follow-up visit (p < .002). Regarding the prognostic factors, a link was found between the functional result and residual radiologic laxity measured on the stress radiographs. Reconstruction of the lateral ligaments for chronic ankle instability combining capsuloligamentous retensioning and reinforcement with an extensor retinaculum flap resulted in successful outcomes, excellent ankle stability, and preservation of ankle joint mobility. This technique addressed both lateral ankle and subtalar instability by developing an extraarticular interosseous ligament.     

Laparoscopic approach to colonic cancer: critical appraisal of the literature

BACKGROUND/AIMS: As laparoscopic colectomy finds its place in the surgical armamentarium, the literature concerning the safety, efficacy, and oncological rational for treatment of colonic cancer is also enriched. A review and critical appraisal of the literature on this subject was the aim of this paper. METHODS: A systematic research and a hand search were conducted to gain access to all controlled studies involving laparoscopic colectomy using the Medline, Embase, HealthSTAR, Cumulative Index for Nursing and Allied Health Literature, CancerLit data bases and the Cochrane Central Register of Controlled Trials for the years 1991-2006. RESULTS: Over 40 controlled randomized trials and ten systematic reviews and/or meta-analyses were found. Several of the completed controlled randomized trials have published either short- or long-term results; only partial and short-term results are available in rectal cancer. The principal conclusions are that the laparoscopic approach affords better short-term outcomes including surgical site morbidity, but with increased operative times and direct costs. Among the proven long-term outcomes, cancer recurrence and survival do not seem to be worse. Whether conversion, a source of increased operative time and costs, is responsible for poorer outcomes or whether specific settings associated with poorer outcomes are among the causes of conversion remains to be shown. However, there are still concerns as regards specific laparoscopic-related complications. CONCLUSION: There seems to no real safety problems in performing laparoscopic colectomy for cancer; improvement in operative times, conversion rates, and complications should make laparoscopy the best cost-effective approach to colectomy.     

Vascular renal anatomy and the ureteropelvic junction: preoperative multidetector CT scanning with split-bolus injection as a predictor of laparoscopic findings

PURPOSE: To compare multidetector CT scan (MDCT) results with intraoperative findings in the detection of an inferior-pole pedicle crossing the ureteropelvic junction. PATIENTS AND METHODS: Over the 2-year study period, 35 patients receiving laparoscopic pyeloplasty underwent preoperative investigation with a novel MDCT protocol in order to detect crossing vessels. Postprocessing, including maximum intensity projection, volume-rendering technique, and multiplanar reconstruction, was used in addition to standard axial views. RESULTS: All the arteries found during laparoscopic surgery were detected by MDCT, but one radiologic false-positive was noted at the beginning of the series. Seven veins were not detected with MDCT. In the only case featuring an isolated inferior-pole vein, the aberrant vessel was identified by MDCT. CONCLUSION: Multidetector CT scanning is a highly accurate way of providing all the information necessary preoperatively concerning renal parenchymal anomalies, urinary stones, and collecting system and vessel anatomy. It helps physicians make appropriate therapeutic decisions and gives surgeons information about what they can expect during laparoscopic procedures.     

Poly(glycerol adipate)-fatty acid esters as versatile nanocarriers: From nanocubes over ellipsoids to nanospheres

Poly(glycerol adipate) (PGA) is a biodegradable polymer with promising features for nanoparticulate drug carrier systems. By acylation of PGA with fatty acids, composite systems with amphiphilic properties can be obtained. Variation of the fatty acid (laurate, stearate and behenate) and their substitution degrees lead to a wide range of different polymer structures. This strongly influences the aggregation of the polymer and thus the nature of the resulting colloidal system. Based on the modification of the interfacial deposition method, various self-stabilizing nanoparticles with defined sizes and narrow size distributions could be prepared. Non-spherical shapes (squares, pentagons) with an internal lamellar-like structure were observed for low substituted PGA-stearates. Higher substitution degrees lead to ellipsoidal or spherical particles. The size, charge, fluidity and polarity of the nanoparticles have been studied comprehensively by PCS, AF4, zeta potential measurements, DSC, NMR, TEM and fluorescence spectroscopy. The chain lengths of the attached fatty acids as well as their substitution degree substantially influence the physicochemical properties of the bulk polymers and the nanoparticles. With their diverse particle shapes and internal structures as well as their different thermal behavior, aggregate states and polarities, the systems offer promising possibilities as delivery systems for lipophilic, amphiphilic and water soluble drugs.     

Gastric duplication cyst fistulized with the colon in an adult: A case report

Gastric duplication cyst is uncommon congenital malformation rarely seen in the adult population. Although complications related to duplication such as infection, haemorrhage, obstruction, and fistula formation with neighbouring structures had been previously reported, fistulization into the colon in adult has been previously never described to our knowledge. In this study, we present the case of a 36‐year‐old male patient with moderate mental retardation who presented with 10 months history of progressive abdominal pain, nausea, vomiting, and important weight loss. Clinical assessment and radiological investigations demonstrated the presence of non‐communicating gastric duplication cyst inserted on the greater curvature of the antrum and fistulized into the transverse colon. At laparotomy, the cyst was completely excised and the colon containing the fistula was resected with colo‐colonic anastomosis. Pathology confirmed gastric duplication and demonstrated that the inner surface of the cyst was lined by gastric type mucosa. The patient had an uneventful recovery and after 3 months of follow‐up, all symptoms disappeared. Also, he gained 11 kg in weight. This case highlights, therefore, the fact that all gastric duplication cysts should be removed in order to avoid the risk of serious complications.