Extremely severe scoliosis, heterotopic ossification, and osteoarthritis in a three ‐generation family with Crouzon syndrome carrying a mutant c.799T> C FGFR2

ConclusionCrouzon syndrome in this three ‐generation family was caused by c.799T>CFGFR2, and the patient showed a different phenotypic appearance from other Crouzon patients with c.799T>CFGFR2.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: CLINICAL REPORT Source Type: research

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CONCLUSION: BD quantified by DRx was associated with the typical complications of MBD in CKD and showed to be viable in the evaluation of bone alterations in CKD. PMID: 31419270 [PubMed - as supplied by publisher]
Source: Jornal Brasileiro de Nefrologia - Category: Urology & Nephrology Tags: J Bras Nefrol Source Type: research
AbstractPurposeThe gold standard for intramedullary nailing (IMN) in humeral shaft fracture treatment is bipolar interlocking. The aim of this study was to compare clinical and radiographic outcomes in two cohorts of patients treated with IMN with or without distal interlocking. We hypothesized that there was no significant difference between isolated proximal interlocking and bipolar interlocking in terms of consolidation and clinical results.MethodsOne hundred twenty-one acute humeral shaft fractures were retrospectively included in group WDI (without distal interlocking screw,n = 74) or in group DI (with d...
Source: International Orthopaedics - Category: Orthopaedics Source Type: research
ConclusionThis study demonstrates that a dual offset tapered stem achieved excellent survivorship and stability, as well as good clinical outcome scores with minimal thigh pain and stress shielding in patients with arthritis and developmental dysplasia of the hip; a dual offset tapered stem may be a suitable option for primary total hip arthroplasty in this group.
Source: International Orthopaedics - Category: Orthopaedics Source Type: research
Conclusions: The presented angular insertion depth prediction method is a first practical approach to support the preoperative selection of cochlear implant electrode arrays. However, the presented procedure is limited in that it is unable to predict the occurrence of insertion results with extracochlear electrodes and requires user training.
Source: Otology and Neurotology - Category: ENT & OMF Tags: COCHLEAR IMPLANTS Source Type: research
The objective of this study was to determine whether osteoarthritis had an impact on outcomes of prostate cancer including death, local recurrence and/or metastasis and to determine whether cartilage oligomeric matrix protein was involved. We performed a retrospective case-control study of patients with prostate cancer with and without the diagnosis of osteoarthritis and completed immunohistochemistry (IHC) analysis of prostate (n=20) and lymph node (n=7) surgical specimens. We evaluated death, local recurrence and metastatic disease by various IHC biomarkers including prostate specific membrane antigen (PSMA), cartilage o...
Source: Oncotarget - Category: Cancer & Oncology Tags: Oncotarget Source Type: research
The objective of this review is to summarize the molecular mechanisms of inflammation and oxidative stress activated by Cd at the bone level, particularly in osteoporosis, RA, and OA. Cadmium can increase bone resorption, affect the activity of osteoclasts and calcium (Ca) absorption, and impair kidney function, which favors the development of osteoporosis. In the case of RA, Cd interferes with the activity of antioxidant proteins, like superoxide dismutase (SOD) and catalase (CAT). It also promotes an inflammatory state, inducing the process of citrullination, which affects the proteins of immune response. On the other ha...
Source: Environmental Toxicology and Pharmacology - Category: Environmental Health Source Type: research
This study evaluates the number of incidental findings reported from orthopaedic radiographs ordered in an academic orthopaedic multispecialty group over 1 year. METHODS: A retrospective review was conducted of 13,948 eligible radiographs recorded at our institution over a 12-month period. Reports were categorized based on examination type. Incidental findings were categorized as having concern for possible malignancy versus likely benign conditions. The possibly malignant findings were then further subdivided into either bone or lung malignancies. The benign findings were subcategorized by etiology and anatomic locati...
Source: The Journal of the American Academy of Orthopaedic Surgeons - Category: Orthopaedics Tags: J Am Acad Orthop Surg Source Type: research
Authors: Brubacher JW, Grote CW, Tilley MB Abstract Evaluation of periarticular traumatic wounds for joint penetration is a common clinical concern for orthopaedic surgeons. Wounds that violate the joint capsule can result in deep infection and sepsis. Understanding the anatomic landmarks and capsular extensions of the major joints is key to proper evaluation. Initial evaluation of periarticular wounds includes thorough examination of the wound and plain radiographs. Historically, the saline load test has been the diagnostic test of choice for assessing traumatic arthrotomy; however, CT has recently been shown to h...
Source: The Journal of the American Academy of Orthopaedic Surgeons - Category: Orthopaedics Tags: J Am Acad Orthop Surg Source Type: research
Authors: Lyudmer M, Levy BJ, Holtzman AJ, Sankaranarayanan S, Tabeayo E, Gruson KI Abstract INTRODUCTION: Plain radiographs of the shoulder are routinely obtained for patients presenting with atraumatic shoulder pain, although the diagnostic utility of this imaging modality is unclear. Despite this, patients often prefer to obtain radiographs and may associate them with a more satisfactory visit. METHODS: New patients presenting with atraumatic shoulder pain were provided with information regarding the potential advantages and disadvantages of plain radiographs as part of their visit. Patients then decided whet...
Source: The Journal of the American Academy of Orthopaedic Surgeons - Category: Orthopaedics Tags: J Am Acad Orthop Surg Source Type: research
A first-of-its-kind FDA approval represents a major win for Zimmer Biomet and, most importantly, the field of scoliosis treatment. Called The Tether – Vertebral Body Tethering System, the device is intended to treat growing children and adolescents whose spinal curves are approaching or have reached the range where surgical treatment is an option. It is intended to correct the most common form of scoliosis (idiopathic scoliosis) that has not responded to conservative treatment options, such as external bracing. “This decision takes an innovative surgical approach, vertebral body tetherin...
Source: MDDI - Category: Medical Devices Authors: Tags: Orthopedics Implants Source Type: news
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