Clinical orthopaedics and related research
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Clin. Orthop. Relat. Res. · Nov 2020
Germline Mutations for Novel Candidate Predisposition Genes in Sporadic Schwannomatosis.
Schwannomatosis is a late-onset tumor predisposition syndrome associated with the development of many different types of malignancies. A relevant genetic mechanism can be explained by three mutational events. The first-hit mutation is a germline mutation, and the SMARCB1 mutation on chromosome 22 is the most well-known genetic abnormality in patients with schwannomatosis. LZTR1 is another major predisposing gene in 22q-related schwannomatosis that lacks SMARCB1 variants. Although these two variants account for the occurrence of most familiar schwannomatoses, the genetic causes of sporadic schwannomatosis for the most part remain unknown. Therefore, current molecular diagnostic criteria cannot completely explain the basis of this disease. The common genetic background between schwannomatosis and other related malignant tumors is also unclear. Moreover, it is not easy to explain various clinical manifestations by only two known mutations. QUESTION/PURPOSES: (1) Are there important sequences outside the SMARCB1 or LZTR1 region on chromosome 22 that might carry a first-hit mutational predisposition to sporadic schwannomatosis? Or are there alternative evolutionarily conserved loci that might carry a first-hit mutational predisposition? (2) Is the age of disease onset associated to such genetic variants? ⋯ The germline mutations identified in this study and the ideas related to the age of disease onset may provide potential candidate variants for future research on sporadic schwannomatosis and help to revise the current clinical and molecular diagnostic criteria. Further in vivo and in vitro studies are needed for these variants.
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Clin. Orthop. Relat. Res. · Nov 2020
What Proportion of Women Orthopaedic Surgeons Report Having Been Sexually Harassed During Residency Training? A Survey Study.
The field of orthopaedic surgery is not free from sexual harassment, with one recent study revealing that 47% of surveyed American Academy of Orthopaedic Surgeons (AAOS) members reported experiencing sexual harassment during their careers. Further characterization of the reported sexual harassment experienced by orthopaedic surgeons is warranted, especially as it relates to women trainees. ⋯ Level II, prognostic study.
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Clin. Orthop. Relat. Res. · Nov 2020
Randomized Controlled TrialDoes Surgical-site Multimodal Drug Injection After Palmar Plating of Distal Radius Fractures Improve Pain Scores?
Although palmar locked plating is a stable fixation method frequently used to treat unstable distal radius fractures (DRFs), surgical treatment may be painful, and so interventions to decrease that pain might improve our patients' experiences with surgery. Some surgeons use local multimodal drug injections to decrease postoperative pain after lower-extremity arthroplasty, but little is known about the effectiveness of a local multimodal drug injection in patients who undergo palmar plating for DRFs. ⋯ Level I, therapeutic study.
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Clin. Orthop. Relat. Res. · Nov 2020
Is a Short-course of Preoperative Denosumab as Effective as Prolonged Therapy for Giant Cell Tumor of Bone?
Denosumab is an inhibitor of monoclonal receptor activator of nuclear factor-ĸB ligand, approved to treat giant cell tumors of bone (GCTB). It is commonly used for unresectable tumors and for downstaging the tumor to perform less-morbid procedures. Although denosumab has been used extensively for GCTBs, there are no recommendations regarding the duration of therapy. The risk factors associated with local recurrence (LR) in patients receiving preoperative denosumab for GCTB also are unknown. ⋯ Level III, therapeutic study.