19 research outputs found

    Relapsed clubfoot correction with soft-tissue release and selective application of Ilizarov technique

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    The Ilizarov technique is an alternative for the treatment of complex foot deformities in children. The authors retrospectively reviewed children with relapsed clubfoot deformity, treated with soft tissue procedures and additional correction with an Ilizarov frame. Twelve consecutive patients (13 feet) with relapsed clubfoot deformity after previous surgical correction were reviewed. Treatment included open releases. An Ilizarov frame was applied as an adjunct in seven patients (mean age of 7.8 years) with severe deformity where complete intraoperative correction was not achieved. Clinical and radiographic assessment was undertaken. The mean Laaveg–Ponseti score, for the 7 feet treated with the Ilizarov frame, was 85.1 after minimum 4 years follow-up. One recurrence of forefoot deformity required metatarsal osteotomies. Postoperative radiographic measurements revealed values that can be considered as normal. Complications included pin tract infections (12% of inserted wires). Flat-topped talus was observed in 3 feet. Deformity correction was possible when soft tissue procedures were combined with the use of Ilizarov technique, in order to support and gradually improve surgical correction

    Assessment of gene-by-sex interaction effect on bone mineral density

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    To access publisher's full text version of this article. Please click on the hyperlink in Additional Links field.Sexual dimorphism in various bone phenotypes, including bone mineral density (BMD), is widely observed; however, the extent to which genes explain these sex differences is unclear. To identify variants with different effects by sex, we examined gene-by-sex autosomal interactions genome-wide, and performed expression quantitative trait loci (eQTL) analysis and bioinformatics network analysis. We conducted an autosomal genome-wide meta-analysis of gene-by-sex interaction on lumbar spine (LS) and femoral neck (FN) BMD in 25,353 individuals from 8 cohorts. In a second stage, we followed up the 12 top single-nucleotide polymorphisms (SNPs; p < 1 × 10(-5) ) in an additional set of 24,763 individuals. Gene-by-sex interaction and sex-specific effects were examined in these 12 SNPs. We detected one novel genome-wide significant interaction associated with LS-BMD at the Chr3p26.1-p25.1 locus, near the GRM7 gene (male effect = 0.02 and p = 3.0 × 10(-5) ; female effect = -0.007 and p = 3.3 × 10(-2) ), and 11 suggestive loci associated with either FN- or LS-BMD in discovery cohorts. However, there was no evidence for genome-wide significant (p < 5 × 10(-8) ) gene-by-sex interaction in the joint analysis of discovery and replication cohorts. Despite the large collaborative effort, no genome-wide significant evidence for gene-by-sex interaction was found to influence BMD variation in this screen of autosomal markers. If they exist, gene-by-sex interactions for BMD probably have weak effects, accounting for less than 0.08% of the variation in these traits per implicated SNP. © 2012 American Society for Bone and Mineral Research.Medtronic NIH R01 AG18728 R01HL088119 R01AR046838 U01 HL084756 R01 AR43351 P01-HL45522 R01-MH-078111 R01-MH-083824 Nutrition and Obesity Research Center of Maryland P30DK072488 NIAMS/NIH F32AR059469 Instituto de Salud Carlos III-FIS (Spanish Health Ministry) PI 06/0034 PI08/0183 Canadian Institutes of Health Research (CIHR) NHLBI HHSN268201200036C N01-HC-85239 N01-HC-85079 N01-HC-85086 N01-HC-35129 N01 HC15103 N01 HC-55222 N01-HC-75150 N01-HC-45133 HL080295 HL087652 HL105756 NIA AG-023629 AG-15928 AG-20098 AG-027058 N01AG62101 N01AG62103 N01AG62106 1R01AG032098-01A1 National Center of Advancing Translational Technologies CTSI UL1TR000124 National Institute of Diabetes and Digestive and Kidney Diseases DK063491 EUROSPAN (European Special Populations Research Network) European Commission FP6 STRP grant 018947 LSHG-CT-2006-01947 Netherlands Organisation for Scientific Research Erasmus MC Centre for Medical Systems Biology (CMSB) Netherlands Brain Foundation (HersenStichting Nederland) US National Institute for Arthritis, Musculoskeletal and Skin Diseases National Institute on Aging R01 AR/AG41398 R01 AR050066 R21 AR056405 National Heart, Lung, and Blood Institute's Framingham Heart Study N01-HC-25195 Affymetrix, Inc. N02-HL-6-4278 Canadian Institutes of Health Research from Institute of Aging 165446 Institute of Genetics 179433 Institute of Musculoskeletal health 221765 Intramural Research Program of the NIH, National Institute on Aging National Institutes of Health HHSN268200782096C Hong Kong Research Grant Council HKU 768610M Bone Health Fund of HKU Foundation KC Wong Education Foundation Small Project Funding 201007176237 Matching Grant CRCG Grant Osteoporosis and Endocrine Research Fund Genomics Strategic Research Theme of The University of Hong Kong Netherlands Organisation of Scientific Research NWO Investments 175.010.2005.011 911-03-012 Research Institute for Diseases in the Elderly 014-93-015 Netherlands Genomics Initiative (NGI)/Netherlands Consortium for Healthy Aging (NCHA) 050-060-810 Erasmus Medical Center and Erasmus University, Rotterdam Netherlands Organization for the Health Research and Development (ZonMw) Research Institute for Diseases in the Elderly (RIDE) Ministry of Education, Culture and Science Ministry for Health, Welfare and Sports European Commission (DG XII) Municipality of Rotterdam German Bundesministerium fur Forschung und Technology 01 AK 803 A-H 01 IG 07015

    Genetic Sharing with Cardiovascular Disease Risk Factors and Diabetes Reveals Novel Bone Mineral Density Loci.

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    Bone Mineral Density (BMD) is a highly heritable trait, but genome-wide association studies have identified few genetic risk factors. Epidemiological studies suggest associations between BMD and several traits and diseases, but the nature of the suggestive comorbidity is still unknown. We used a novel genetic pleiotropy-informed conditional False Discovery Rate (FDR) method to identify single nucleotide polymorphisms (SNPs) associated with BMD by leveraging cardiovascular disease (CVD) associated disorders and metabolic traits. By conditioning on SNPs associated with the CVD-related phenotypes, type 1 diabetes, type 2 diabetes, systolic blood pressure, diastolic blood pressure, high density lipoprotein, low density lipoprotein, triglycerides and waist hip ratio, we identified 65 novel independent BMD loci (26 with femoral neck BMD and 47 with lumbar spine BMD) at conditional FDR < 0.01. Many of the loci were confirmed in genetic expression studies. Genes validated at the mRNA levels were characteristic for the osteoblast/osteocyte lineage, Wnt signaling pathway and bone metabolism. The results provide new insight into genetic mechanisms of variability in BMD, and a better understanding of the genetic underpinnings of clinical comorbidity

    New genetic loci link adipose and insulin biology to body fat distribution.

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    Body fat distribution is a heritable trait and a well-established predictor of adverse metabolic outcomes, independent of overall adiposity. To increase our understanding of the genetic basis of body fat distribution and its molecular links to cardiometabolic traits, here we conduct genome-wide association meta-analyses of traits related to waist and hip circumferences in up to 224,459 individuals. We identify 49 loci (33 new) associated with waist-to-hip ratio adjusted for body mass index (BMI), and an additional 19 loci newly associated with related waist and hip circumference measures (P < 5 × 10(-8)). In total, 20 of the 49 waist-to-hip ratio adjusted for BMI loci show significant sexual dimorphism, 19 of which display a stronger effect in women. The identified loci were enriched for genes expressed in adipose tissue and for putative regulatory elements in adipocytes. Pathway analyses implicated adipogenesis, angiogenesis, transcriptional regulation and insulin resistance as processes affecting fat distribution, providing insight into potential pathophysiological mechanisms

    Letters to the Editor

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    Closed-space hand infections: diagnostic and treatment considerations

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    Despite modern diagnostic methods, surgical advances and antibiotics evolution, acute closed-space hand infections still remain a therapeutic challenge. The aim of this review is to present its special clinical features and the current therapeutic management based on the infection site, the type of the infecting pathogen and the host-type. Anatomic pathways facilitate the spread of the infection towards spots of decreased resistance. The accumulation of purulent material subsequently raises the pressure within the closed-space, leading to ischemia and necrosis. These infections are usually attributed to gram-positive cocci and clinicians should also consider the local spread of community-acquired methicillin resistant S. aureus and the host's comorbidities (immunosuppression, diabetes) before choosing the appropriate antibiotics. Surgical treatment including drainage and irrigation is imperative. The knowledge of anatomy, closed-space pathophysiology and current updates in microbiology and drainage/irrigation techniques are prerequisites for prompt diagnosis and optimal treatment of acute closed-space hand infections

    Triple Nerve Block at the Knee for Foot and Ankle Surgery Performed by the Surgeon: Difficulties and Efficiency

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    Background: Combined nerve blocks at the knee can provide safe anesthesia below the knee avoiding the potential complications of general or spinal anesthesia while reducing the need for opioids in the postoperative period. This study presents the outcomes of a large series of patients that underwent foot and ankle surgery receiving a triple nerve block at the knee. Materials and Methods: Three hundred eighty patients underwent foot and ankle surgery receiving anesthesia with triple nerve block at the knee (tibial, common peroneal and saphenous nerve). Surgery included a variety of bone and soft tissue procedures. The nerve block was performed by an orthopaedic surgeon in the lateral decubitus position. Results: The successful nerve block rate was 91 percent. There was no need to convert to general or spinal anesthesia, although 34 patients (9%) needed additional analgesia intraoperatively. Complete anesthesia required 25 to 30 minutes from the time of performing the block. No complication occurred secondary to the use of the anesthetic agent (ropivacaine 7.5%). Postoperative analgesia lasted from 5 to 12 hours, reducing the need of additional analgesics. Hospitalization averaged 1.4 days (from 0 to 5) with the majority of patients discharged the day after the operation (248/380). A high satisfaction rate was reported by the patients with no adverse effects and complications. Conclust. on: We found triple nerve block at the knee to be a safe and reliable method of regional anesthesia providing low morbidity, high success rate, long acting analgesia, and fewer complications than general or spinal anesthesia. It is a simple method that can be performed by the orthopaedic surgeon

    Overview of fracture liaison services in the UK and Europe:standards, model of care, funding, and challenges

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    Fragility fractures represent a growing global problem, including in the United Kingdom and European countries. Reports demonstrate the benefits of national guidance and organized fragility fracture programs through fracture liaison services to deliver care to patients who sustain these injuries. The challenge of assembling multidisciplinary teams, providing routine screening of appropriate patients, and monitoring therapies where there is a known compliance problem, remains an obstacle to the success of fragility fracture treatment programs to all. Efforts should continue to introduce and maintain fracture liaison services through coordinated national approaches and advanced systems
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