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Bone deformity

Xi Chen, Heng Qiu, Chao Wang, Yu Yuan, Jennifer Tickner, Jiake Xu, Jun Zou
Choline, a hydrophilic cation, has versatile physiological roles throughout the body, including cholinergic neurotransmission, memory consolidation and membrane biosynthesis and metabolism. Choline kinases possess enzyme activity that catalyses the conversion of choline to phosphocholine, which is further converted to cytidine diphosphate-coline (CDP-choline) in the biosynthesis of phosphatidylcholine (PC). PC is a major constituent of the phospholipid bilayer which constitutes the eukaryotic cell membrane, and regulates cell signal transduction...
October 8, 2016: Cytokine & Growth Factor Reviews
Christina Huang Wright, Dorian Kusyk, William S Rosenberg, Jennifer A Sweet
Lymphangiomatosis is a rare congenital disorder that results in multiorgan system lymphatic invasion. Symptoms due to axial skeletal involvement can range from chronic bone pain to severe deformity resulting in radiculopathy, myelopathy, and even paralysis. The authors present a case of lymphangiomatosis of the clivus, C-1, and C-2, resulting in chronic pain. The patient was successfully treated with percutaneous transoral clivoplasty and vertebroplasty, without disease progression or return of symptoms at 2 years...
October 21, 2016: Journal of Neurosurgery. Spine
Marko Bumbaširević, Tomislav Palibrk, Henry Dushan E Atkinson, Aleksandar Lešić
OBJECTIVES: To evaluate the safety and efficacy of the Ilizarov fine-wire compression/distraction technique in the treatment of scaphoid nonunion (SNU), without the use of bone graft. DESIGN: This is a prospective study of 20 consecutive patients in one center. PATIENTS AND METHODS: This study included 20 patients (19 males) with a mean SNU duration of 14.5 months. Four patients had proximal pole, 15 had waist, and 1 had a distal SNU. Patients with carpal instability, humpback deformities, carpal collapse, avascular necrosis, and marked degenerative change were excluded...
October 20, 2016: European Journal of Orthopaedic Surgery & Traumatology: Orthopédie Traumatologie
Helena Florez, Pilar Peris, Núria Guañabens
Fibrous dysplasia is a skeletal disorder that is associated with a wide spectrum of clinical manifestations, including localized asymptomatic forms and extensive severe forms with severe bone deformities and endocrinological alterations, depending on age, location, extent and associated processes. Although the treatment of choice is based on bisphosphonates, the therapeutic efficacy of these agents in the control of disease activity remains uncertain. This article reviews the current data available on the treatment of this disease as well as the preliminary data on new therapeutic approaches...
October 17, 2016: Medicina Clínica
Xin Gu, Bingjie Gu, Xianhui Lv, Zhenzhen Yu, Rong Wang, Xiaoli Zhou, Wanxin Qiao, Zhiyuan Mao, Guoping Zuo, Qing Li, Dengshun Miao, Jianliang Jin
Impaired apoptosis of fibroblast-like synoviocytes (FLSs) causes synovial hyperplasia, facilitating destruction of cartilage and bone in rheumatoid arthritis (RA). Tumor necrosis factor (TNF)-α, a dominant inflammatory mediator in RA pathogenesis, promotes progression of RA symptoms. Prevalence of 1, 25-dihydroxy-vitamin D3 (hereafter termed VD) deficiency is 30-63% in patients with RA. Whether VD leads to apoptosis or enhances TNF-α-mediated apoptosis in FLSs to ameliorate RA is unclear. To determine this, 10-week-old CYP27B1-deficient (CYP27B1(-/-)) mice with collagen-induced arthritis (CIA) were intraperitoneally treated with 1 μg/kg VD every other day for 9 weeks...
October 20, 2016: Cell Death & Disease
J Do Cao, A Wiedemann, T Quinaux, S F Battaglia-Hsu, L Mainard, R Froissart, C Bonnemains, S Ragot, B Leheup, P Journeau, F Feillet
: Patients under 5 years were not evaluated in the phase-3 study for enzyme replacement therapy (ERT) in MPS IV A. Here we describe the evolution of a severe Morquio A pediatric patient who was diagnosed at 19 months old and treated by ERT at 21 months old for the next 30 months. Applying the standard ERT protocol on this very young patient appeared to reduce his urinary excretion of glycosaminoglycans (GAGs); the improvements in both the 6 minute-walk test (6MWT) and the stair climb test, however, were no different than those reported in the nature history study...
December 2016: Molecular Genetics and Metabolism Reports
J Tayierjiang, N Waresijiang, H Wang
Objective: To evaluate the clinical results of the patients with severe kyphosis and paraplegia in different spine segment due to tuberculosis of thoracic and lumbar had been treated by one stage posterior surgical procedure to debriment of lesion and titian mesh bone fusion with internal fixation by pedicle screw system. Method: From May 2008 to March 2014, there were total 30 patients with severe kyphosis and paraplegia in different spine segment due to tuberculosis of thoracic and lumbar in Department of Orthopaedics, the People's Hospital of Xinjiang Uygur Autonoumy Region...
October 11, 2016: Zhonghua Yi Xue za Zhi [Chinese medical journal]
Mansher Singh, Raquel Minasian, Matthew Jackson, E J Caterson
BACKGROUND: Surgical resection of ocular malignancies can result in complex craniofacial defects that can be difficult to reconstruct with conventional reconstruction techniques. Craniofacial prosthesis supported by bone-anchored implants has evolved as a reliable alternative in such scenarios. METHODS: The authors describe a patient who underwent extensive facial resection secondary to squamous cell carcinoma resulting in significant facial deformities. A bone-anchored osseointegrated implant was used to perform facial reconstruction...
October 14, 2016: Journal of Craniofacial Surgery
Joshua M Abzug, Karan Dua, Andrea Sesko Bauer, Roger Cornwall, Theresa O Wyrick
Phalangeal fractures are the most common type of hand fracture that occurs in the pediatric population and account for the second highest number of emergency department visits for fractures in the United States. The incidence of phalangeal fractures is the highest in children aged 10 to 14 years, which coincides with the time that most children begin playing contact sports. Younger children are more likely to sustain a phalangeal fracture in the home setting as a result of crush and laceration injuries. Salter-Harris type II fractures of the proximal phalanx are the most common type of finger fracture...
November 2016: Journal of the American Academy of Orthopaedic Surgeons
Chad M Teven, Julie Mhlaba, Annemarie O'Connor, Lawrence J Gottlieb
The majority of surgical burn care involves the use of skin grafts. However, there are cases when flaps are required or provide superior outcomes both in the acute setting and for postburn reconstruction. Rarely discussed in the context of burn care, the perforator-based propeller flap is an important option to consider. We describe our experience with perforator-based propeller flaps in the acute and reconstructive phases of burn care. We reviewed demographics, indications, operative details, and outcomes for patients whose burn care included the use of a perforator-based propeller flap at our institution from May 2007 to April 2015...
October 7, 2016: Journal of Burn Care & Research: Official Publication of the American Burn Association
Jason Fleming, Dianna Quan
We present a patient with congenital spinal muscular atrophy associated with pain, subjective sensory loss, right talipes equinovarus, delayed walking, and progressive gait impairment. A sister and niece reportedly had Charcot-Marie-Tooth 1A, but the patient's electromyogram showed an axonal motor neuropathy or neuronopathy. We identified a c.806G>A TRPV4 gene mutation causing an Arg269His amino acid substitution. TRPV4 mutations cause variable phenotypes including axonal sensorimotor neuropathy and motor neuropathy or neuronopathy...
September 16, 2016: Neuromuscular Disorders: NMD
Jeffrey C Posnick, Elbert Choi, Anish Chavda
PURPOSE: Frequency estimates of surgical site infection (SSI) after orthognathic surgery vary considerably. The purpose of this study was to determine the incidence and site of SSIs and associated risk factors after bimaxillary orthognathic, osseous genioplasty, and intranasal surgery. MATERIALS AND METHODS: The authors executed a retrospective cohort study of patients with a bimaxillary developmental dentofacial deformity (DFD) and symptomatic chronic obstructive nasal breathing...
September 20, 2016: Journal of Oral and Maxillofacial Surgery
J A D van der Woude, S Spruijt, B T J van Ginneken, R J van Heerwaarden
Varus deformity can be localized in the tibia, in the femur or in both. If varus deformity is localized within the femur, it is mandatory to correct it in the femur. This report presents the technique and results of a consecutive case series of lateral uniplanar and biplanar closed-wedge valgus osteotomy of the distal femur for the treatment of varus deformity of the knee. Retrospectively, fifteen patients (sixteen knees) were identified. Indications for surgery varied from unloading an osteoarthritic medial compartment to reduction to symmetrical varus leg alignment...
October 14, 2016: Strategies in Trauma and Limb Reconstruction
Anastasia N Fotiadou, Michele Calleja, Rikin Hargunani, Richard Keen
The skeletal manifestations of osteogenesis imperfecta are investigated. The antenatal and postnatal diagnosis of the disease is briefly mentioned and the characteristic appearances of bone deformities are analyzed in detail. The distinctive bony manifestations of osteogenesis imperfecta are illustrated using typical examples. Finally, we comment on the differential diagnosis.
July 2016: Seminars in Musculoskeletal Radiology
Cassio Eduardo Raposo-Amaral, Rafael Denadai, Enrico Ghizoni, Cesar Augusto Raposo-Amaral
BACKGROUND: Although craniofacial bone correction is the essential step in hypertelorbitism correction, the final result depends on the management of soft tissue deformities. The purpose of this study was to review our surgical strategies for soft tissue reconstruction in hypertelorbitism correction. METHODS: A retrospective study was performed of consecutive patients with hypertelorbitism, undergoing hypertelorbitism correction between 2007 and 2014. All aspects related to the craniofacial surgical procedures (number and type of procedures, outcomes, and complications) were verified through medical records, clinical photographs, and interviews with all patients...
October 6, 2016: Annals of Plastic Surgery
M Bricout, J Rezzouk
When implanting the Maia(®) trapeziometacarpal prosthesis, surgeons will be faced with a variety of complications they must be able to recognize and anticipate. Their ability to deal with these complications and possibly even failures is governed by their knowledge of the right steps to take. The aim of this retrospective study was to assess the incidence of complications reported during implantation of the Maia(®) prosthesis, to describe their nature and potential predisposing factors, and to study failures and their outcomes...
June 2016: Hand Surgery and Rehabilitation
John Ham, Mark Flipsen, Marianne Koolen, Arnard van der Zwan, Konrad Mader
Multiple osteochondromas (MO) are a rare autosomal dominant disorder characterized by the presence of osteochondromas located on the long bones and axial skeleton. Patients present with growth disturbances and angular deformities of the long bones as well as limited motion of affected joints. Forearm involvement is found in a considerable number of patients and may vary from the presence of a simple osteochondroma to severe forearm deformities and radial head dislocation. Patients encounter a variety of problems and symptoms e...
October 13, 2016: Strategies in Trauma and Limb Reconstruction
Richard D Scott
Total knee arthroplasty (TKA) has evolved into a very successful procedure to relieve pain and improve function in the patient with advanced arthritis. Both short- and long-term outcomes are dependent on optimal surgical technique. In this article, I share a few of the many lessons learned over more than 40 years of experience performing TKA regarding exposure, alignment, bone preparation, correction of deformity, and prosthetic implantation.
September 2016: American Journal of Orthopedics
Joseph A Gil, Steven F DeFroda, Kunal Sindhu, Aristides I Cruz, Alan H Daniels
Osteogenesis imperfecta is caused by qualitative or quantitative defects in type I collagen. Although often considered a disease with primarily pediatric manifestations, more than 25% of lifetime fractures are reported to occur in adulthood. General care of adults with osteogenesis imperfecta involves measures to preserve bone density, regular monitoring of hearing and dentition, and maintenance of muscle strength through physical therapy. Surgical stabilization of fractures in these patients can be challenging because of low bone mineral density, preexisting skeletal deformities, or obstruction by instrumentation from previous surgeries...
October 13, 2016: Orthopedics
Takahiro Makino, Takashi Kaito, Yusuke Sakai, Shota Takenaka, Kazuomi Sugamoto, Hideki Yoshikawa
BACKGROUND: Vertebral bodies in patients with adolescent idiopathic scoliosis (AIS) usually have frontal wedge deformities. However, the plasticity of the deformed vertebrae in skeletally immature patients is unknown. The purpose of our study was to clarify the plasticity of vertebral deformities in skeletally immature patients with AIS by using in vivo three-dimensional (3D) analysis. METHODS: Ten female patients with AIS (mean age, 12.2 years; three patients, Lenke type 1; five patients, type 2; two patients, type 5) who underwent posterior fusion and whose Risser grade was ≤3 at surgery were included...
October 12, 2016: BMC Musculoskeletal Disorders
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