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

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.

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

Purulent flexor tenosynovitis: Factors influencing the functional outcome

This retrospective study aimed to evaluate the factors that influence the final outcome of treatment of purulent flexor tenosynovitis, viz. delay in treatment, severity of the condition, the infecting pathogen and the method of treatment. Of 41 patients with this condition treated by drainage and irrigation through two small incisions (16) and wide incision (25), 16 were treated after a delay. Continuous postoperative irrigation was applied in 26 patients. Re-operation was necessary in 11 patients. In most cases, Staphylococcus aureus was detected. The results were excellent in 32 cases and the mean Disabilities of the Arm, Shoulder and Hand score was 8.1. Irrigation through small incisions and continuous postoperative irrigation decreased the probability of an unfavourable outcome. Delayed treatment and infections with specific pathogens led to a worse outcome. Early diagnosis of purulent flexor tenosynovitis followed by drainage through small incisions and continuous postoperative irrigation appear, from this retrospective review, to lead to the best functional outcome

Ancient Schwannoma of the Hand

Ancient schwannoma is a schwannoma subtype, characterized by extensive degeneration and diffuse hypocellular areas. These changes are believed to occur because it takes a long time for ancient schwannomas to develop. Schwannomas with these degenerative changes can be misdiagnosed as sarcomas or other soft-tissue neoplasms. We present a case of a slowly enlarging ancient schwannoma of the thenar area in a 67-year-old woman. The differential diagnosis included atypical soft tissue sarcomas and tumors of neural origin. The combination of ultrasound and magnetic resonance imaging findings provided features that narrowed the differential diagnosis, and histology confirmed the presence of an encapsulated schwannoma with extensive myxomatous degeneration and multiple vessel thrombosis. The clinical, radiological, and histological features and the diagnostic approach of this rare entity are described. (J Hand Surg 2011;36A:2030-2033. Copyright (C) 2011 by the American Society for Surgery of the Hand. All rights reserved.

The role of MR imaging in scaphoid disorders

The scaphoid bone of the wrist is one of the most commonly fractured bones in the body. Due to its importance in the biomechanics and functionality of the wrist, it is important to depict and characterize the type of injury. Plain radiographs and scintigraphy may fail to disclose the type and severity of the injury. In patients with normal initial plain radiographs, MR imaging can discriminate occult fractures from bone bruises and may also demonstrate ligamentous disruption. MR imaging can also discriminate the proximal pole viability versus avascular necrosis secondary to previous fracture, which is important for treatment planning. Treatment of non-united fractures with vascularized grafts can be evaluated with contrast-enhanced MR imaging. Idiopathic osteonecrosis or Preiser's disease was originally described after trauma. The non-traumatic disorders of the scaphoid include post-traumatic osteoarthritis, inflammatory bone marrow edema in patients with rheumatoid arthritis, and osteomyelitis. MR imaging is helpful in all the above disorders to demonstrate early bone marrow edema, cartilage degeneration and associated subchondral marrow changes. The most commonly found tumors in the scaphoid are usually benign and include enchondroma, osteoblastoma and osteoid osteoma. MR imaging is not mandatory for the initial diagnosis, which should be based on plain X-ray findings

Changes in the range of motion in children with cerebral palsy during the early stages of gait development

OBJECTIVE To investigate the effect of the onset of walking on the passive and dynamic range of motion (PROM, DROM) in children with cerebral palsy (CP). METHOD Study was made of 16 children with CP, GMFCS levels I or II, who had just begun independent walking. Knee and ankle PROM was evaluated using a goniometer, and DROM was recorded by means of a 3D gait analysis system, at two points in time, i.e., at the onset of independent walking and 8 months later. RESULTS No significant differences in PROM were observed between the two measurements. A significant increase (p<0.05) was observed in DROM for maximum ankle plantarflexion during the stance phase of gait. CONCLUSIONS PROM is not significantly affected by the use of “atypical” walking patterns during the initial stage of gait development. The changes observed in DROM and joint kinematics probably develop as a result of the efforts of the neuromuscular system to adjust to the increased need for stability and motion required during gait initiation. © Athens Medical Society

Management of scaphoid nonunions with vascularized bone grafts from the distal radius: mid- to long-term follow-up

Scaphoid nonunion represents a challenging problem that leads to disability if neglected. Vascularized bone grafts are proposed to augment the local biology and increase the likelihood of union but long-term outcomes are sparse. In this work, we present the mid- to long-term outcome of 140 scaphoid nonunions managed with vascularized bone grafts from the distal radius. Sixteen patients underwent concomitant closed wedge osteotomy of the distal radius because of arthritic changes. There were 130 males and ten females, with mean time from injury to surgery 3.3 years. Delayed presentation was associated with arthritic changes. Forty-two patients had avascular necrosis of the proximal pole and sixteen had more severe arthritic changes. The mean follow-up was 10 years. Pain decreased postoperatively but range of motion did not improve but only in early reconstructions. Grip strength reached 79% of the non-injured hand. Mayo modified wrist score improved from 56 to 84 (p < 0.001). Except one, all the rest 139 nonunions healed in a mean time of 9 weeks. MRI evaluation in 77 patients revealed healing at a mean of 3 months postoperatively even in cases of avascular necrosis. Scaphoid length, carpal height, and scapholunate angle increased, but capitolunate did not change significantly. The presence of arthritis preoperatively was associated with progression of arthritic changes after 10 years. Treatment of scaphoid nonunions with vascularized bone grafts from distal radius reliably led to highest rate of bone healing with good mid- to long-term outcomes. Enhancement of the local biology and reconstitution of scaphoid and carpal height resulted in improved function mostly in early interventions. © 2016, Springer-Verlag France

Tips to secure healing at the free vascularised fibular graft-to-host bone junction

The most commonly used vascularized bone graft in Orthopedics for difficult reconstructive problems requiring biological augmentation properties is the fibula. It provides immediate structure and with a patent pedicle, increases blood flow at the recipient site, promoting healing and hypertrophy in response to mechanical stress. The vascular supply from the nutrient branch and the periosteal vessels allows a variety of graft harvesting configurations for a broad spectrum of reconstructive challenges. We present the details on how to optimize healing and graft incorporation at the junction sites. © 201