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1.
J Pediatr Orthop ; 40(9): 474-480, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-32555045

RESUMO

BACKGROUND: Screw fixation is the most commonly employed fixation strategy for displaced medial epicondyle fractures, but in younger patients with minimal ossification, the fracture fragment may not accommodate a screw. In these situations, Kirschner-wires (K-wire) or suture anchors may be utilized as alternatives. The purposes of this study were to examine the biomechanical properties of medial epicondyle fractures fixed with a screw, K-wires, or suture anchors, to evaluate clinical outcomes and complications of patients 10 years of age or younger treated with these approaches, and to perform a cost-analysis. METHODS: Biomechanical assessment: Immature pig forelimbs underwent an osteotomy through the medial epicondyle apophysis, simulating a fracture. These were then fixed with a screw, K-wires or suture anchors. Cyclic elongation (mm), displacement (mm), load to failure (N), and stiffness (N/mm) were assessed. Clinical assessment: a retrospective review was performed of patients 10 years of age or younger with a medial epicondyle fracture fixed with these strategies. Radiographic outcomes, postoperative data and complications were compared. These data were used to perform a cost-analysis of each treatment approach. RESULTS: Biomechanically, screws were stronger (P=0.047) and stiffer (P=0.01) than the other constructs. Clinically, 51 patients met inclusion criteria (screw=27, wires=11, anchor=13). Patients treated with K-wires were younger (P<0.05) and patients treated with screw fixation had a shorter casting duration (P=0.008). Irrespective of treatment strategy, all fractures healed (100%) and only 1 patient in the screw group lost reduction. Clinical outcomes and complications were similar between groups, but the suture anchor group was less likely to require a second surgery for implant removal (P<0.05). This lower reoperation rate led to a cost-saving of 10%. CONCLUSIONS: Biomechanically, all 3 approaches provided initial fixation exceeding the forces observed across the elbow joint with routine motion. The screw construct was the strongest and stiffest. Clinically, all 3 strategies were acceptable, with screw fixation offering a shorter casting duration, but greater implant removal need with higher associated costs.


Assuntos
Lesões no Cotovelo , Articulação do Cotovelo , Fixação Interna de Fraturas , Fraturas do Úmero/cirurgia , Animais , Fenômenos Biomecânicos , Parafusos Ósseos , Fios Ortopédicos , Criança , Articulação do Cotovelo/fisiopatologia , Articulação do Cotovelo/cirurgia , Feminino , Fixação Interna de Fraturas/efeitos adversos , Fixação Interna de Fraturas/instrumentação , Fixação Interna de Fraturas/métodos , Humanos , Masculino , Modelos Anatômicos , Modelos Animais , Estudos Retrospectivos , Âncoras de Sutura , Suínos , Resultado do Tratamento
2.
Skeletal Radiol ; 47(12): 1705-1708, 2018 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-29777260

RESUMO

Anatomical variants of muscle are commonly encountered by surgeons and radiologists. The flexor carpi radialis brevis (FCRB) is an anomalous muscle in the distal forearm with an estimated prevalence of 2-8%. In the literature, there are a few case reports of symptomatic FCRB tenosynovitis without a concomitant tear, and treatment methods described include both conservative and surgical management. We present a case of one patient with radial sided wrist pain and a partial FCRB tear, which to our knowledge is the first case report of a symptomatic FCRB tear. We also review existing literature regarding FCRB anatomy, particularly related to intra-operative dissection and exposure. Identification of an anomalous FCRB on imaging may serve to guide clinicians in their differential diagnosis of radial-sided wrist pain, in which FCRB pathological conditions ought to be included.


Assuntos
Antebraço/anatomia & histologia , Músculo Esquelético/anatomia & histologia , Músculo Esquelético/lesões , Tenossinovite/diagnóstico por imagem , Traumatismos do Punho/diagnóstico por imagem , Variação Anatômica , Diagnóstico Diferencial , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Medição da Dor
3.
PLoS Genet ; 9(1): e1003220, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23349640

RESUMO

The genetics of lymphoma susceptibility reflect the marked heterogeneity of diseases that comprise this broad phenotype. However, multiple subtypes of lymphoma are observed in some families, suggesting shared pathways of genetic predisposition to these pathologically distinct entities. Using a two-stage GWAS, we tested 530,583 SNPs in 944 cases of lymphoma, including 282 familial cases, and 4,044 public shared controls, followed by genotyping of 50 SNPs in 1,245 cases and 2,596 controls. A novel region on 11q12.1 showed association with combined lymphoma (LYM) subtypes. SNPs in this region included rs12289961 near LPXN, (P(LYM) = 3.89×10(-8), OR = 1.29) and rs948562 (P(LYM) = 5.85×10(-7), OR = 1.29). A SNP in a novel non-HLA region on 6p23 (rs707824, P(NHL) = 5.72×10(-7)) was suggestive of an association conferring susceptibility to lymphoma. Four SNPs, all in a previously reported HLA region, 6p21.32, showed genome-wide significant associations with follicular lymphoma. The most significant association with follicular lymphoma was for rs4530903 (P(FL) = 2.69×10(-12), OR = 1.93). Three novel SNPs near the HLA locus, rs9268853, rs2647046, and rs2621416, demonstrated additional variation contributing toward genetic susceptibility to FL associated with this region. Genes implicated by GWAS were also found to be cis-eQTLs in lymphoblastoid cell lines; candidate genes in these regions have been implicated in hematopoiesis and immune function. These results, showing novel susceptibility regions and allelic heterogeneity, point to the existence of pathways of susceptibility to both shared as well as specific subtypes of lymphoid malignancy.


Assuntos
Predisposição Genética para Doença , Estudo de Associação Genômica Ampla , Leucemia Linfoide/genética , Locos de Características Quantitativas , Alelos , Linhagem Celular Tumoral , Cromossomos Humanos Par 11 , Expressão Gênica , Humanos , Leucemia Linfoide/patologia , Linfoma Folicular , Polimorfismo de Nucleotídeo Único
4.
Am J Hum Genet ; 91(2): 379-83, 2012 Aug 10.
Artigo em Inglês | MEDLINE | ID: mdl-22863192

RESUMO

Although heritable factors are an important determinant of risk of early-onset cancer, the majority of these malignancies appear to occur sporadically without identifiable risk factors. Germline de novo copy-number variations (CNVs) have been observed in sporadic neurocognitive and cardiovascular disorders. We explored this mechanism in 382 genomes of 116 early-onset cancer case-parent trios and unaffected siblings. Unique de novo germline CNVs were not observed in 107 breast or colon cancer trios or controls but were indeed found in 7% of 43 testicular germ cell tumor trios; this percentage exceeds background CNV rates and suggests a rare de novo genetic paradigm for susceptibility to some human malignancies.


Assuntos
Variações do Número de Cópias de DNA/genética , Predisposição Genética para Doença/genética , Genômica/métodos , Mutação em Linhagem Germinativa/genética , Neoplasias Testiculares/genética , Adulto , Humanos , Masculino , Pais , Projetos de Pesquisa
5.
J Knee Surg ; 37(2): 92-97, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37800176

RESUMO

Varus knee deformity is one of the most common deformities presenting for total knee arthroplasty (TKA). When present, a varus knee deformity contributes to overload of the medial joint compartment during gait, leading to increased medial compartment forces as well as lateral soft tissue lengthening. Additionally, a fixed varus deformity is associated with medial soft tissue contractures of the deep and superficial medial collateral ligament (MCL) and posteromedial capsule. With a fixed varus deformity, soft tissue releases may be necessary to create equivalent and rectangular flexion and extension gaps. There may also be anteromedial tibial bone defects, medial femoral condyle defects, and occasionally flexion contractures, especially in more severe cases. In cases of severe varus deformity with medial tibial bone loss, bone defects must be addressed to ensure adequate implant support. In many cases, a primary knee implant can be utilized in cases of varus knee deformity, but occasionally prostheses with higher levels of constraint may be required to balance and stabilize the knee. TKA has had a successful track record, with high levels of long-term implant survivorship even in cases of severe varus. Iatrogenic MCL instability and tibial aseptic loosening are complications associated with TKA in cases of severe varus, and multiple methods to avoid complications are presented here.


Assuntos
Artroplastia do Joelho , Contratura , Prótese do Joelho , Osteoartrite do Joelho , Humanos , Articulação do Joelho/cirurgia , Joelho/cirurgia , Osteoartrite do Joelho/cirurgia , Osteoartrite do Joelho/complicações , Amplitude de Movimento Articular , Contratura/cirurgia
6.
J Comp Eff Res ; 13(4): e230040, 2024 04.
Artigo em Inglês | MEDLINE | ID: mdl-38488048

RESUMO

Aim: The overall goal of this review was to examine the cost-utility of robotic-arm assisted surgery versus manual surgery. Methods: We performed a systematic review of all health economic studies that compared CT-based robotic-arm assisted unicompartmental knee arthroplasty, total knee arthroplasty and total hip arthroplasty with manual techniques. The papers selected focused on various cost-utility measures. In addition, where appropriate, secondary aims encompassed various clinical outcomes (e.g., readmissions, discharges to subacute care, etc.). Only articles directly comparing CT-based robotic-arm assisted joint arthroplasty with manual joint arthroplasty were included, for a resulting total of 21 reports. Results: Almost all twenty-one studies demonstrated a positive effect of CT scan-guided robotic-assisted joint arthroplasty on health economic outcomes. For studies reporting on 90-day episodes of costs, 10 out of 12 found lower costs in the robotic-arm assisted groups. Conclusion: Robotic-arm assisted joint arthroplasty patients had shorter lengths of stay and cost savings based on their 90-day episodes of care, among other metrics. Payors would likely benefit from encouraging the use of this CT-based robotic technology.


Assuntos
Artroplastia do Joelho , Osteoartrite do Joelho , Procedimentos Cirúrgicos Robóticos , Humanos , Articulação do Joelho/cirurgia , Osteoartrite do Joelho/cirurgia , Procedimentos Cirúrgicos Robóticos/métodos , Análise Custo-Benefício , Artroplastia do Joelho/métodos , Extremidade Inferior/cirurgia , Tomografia Computadorizada por Raios X
7.
JBJS Case Connect ; 11(2)2021 05 21.
Artigo em Inglês | MEDLINE | ID: mdl-34019489

RESUMO

CASE: Although rare, a medial malleolus fracture plus ipsilateral Achilles tendon rupture has been described in previous case reports. We present a unique case of an open bimalleolar fracture dislocation with ipsilateral Achilles tendon rupture after a motorcycle crash. His Achilles injury was diagnosed intraoperatively during external fixator placement. He presented in a delayed fashion to our institution, where he underwent open reduction internal fixation and Achilles tendon reconstruction. CONCLUSION: Although most commonly described with isolated medial malleolus fractures, Achilles tendon injuries can also be associated with bimalleolar ankle fractures. These associated injuries are frequently missed.


Assuntos
Tendão do Calcâneo , Fraturas do Tornozelo , Traumatismos dos Tendões , Tendão do Calcâneo/lesões , Tendão do Calcâneo/cirurgia , Tornozelo , Fraturas do Tornozelo/complicações , Fraturas do Tornozelo/diagnóstico por imagem , Fraturas do Tornozelo/cirurgia , Humanos , Masculino , Ruptura/complicações , Ruptura/cirurgia , Traumatismos dos Tendões/diagnóstico por imagem , Traumatismos dos Tendões/cirurgia
8.
Fam Cancer ; 12(4): 597-600, 2013 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-23475555

RESUMO

We performed a retrospective analysis of germline DNA samples from Ashkenazi Jewish men and a comparison group of non-Ashkenazi men treated for prostate cancer at our institution to determine the prevalence of HOXB13 G84E mutation in prostate cancer patients of Ashkenazi Jewish heritage, an ethnic group common to the New York City area. Patients were genotyped for G84E using a TaqMan assay (Applied Biosystems). Positive cases were confirmed using Sanger sequencing. Median age at prostate cancer diagnosis was 68 years for 889 Ashkenazi Jewish patients, 64 years for 920 non-Ashkenazi Jewish patients. The median follow up was 9 years for Ashkenazi Jewish patients and 8.8 years for non-Ashkenazi Jewish patients. Only 4 patients were found to be heterozygous carriers of G84E. They were all of non-Ashkenazi Jewish ancestry and were diagnosed at 70, 66, 78, and 49 years of age. Two of them presented with high-risk prostate cancer. The prevalence of G84E in the non-Ashkenazi sample was 0.4%. HOXB13 G84E mutation was not observed in prostate cancer patients of Ashkenazi Jewish ancestry treated at our institution. Screening for G84E, therefore, may be unnecessary in Ashkenazi Jewish men if these results are validated by other studies.


Assuntos
Proteínas de Homeodomínio/genética , Mutação/genética , Neoplasias da Próstata/epidemiologia , Neoplasias da Próstata/genética , Idoso , Estudos de Casos e Controles , Seguimentos , Predisposição Genética para Doença , Genótipo , Humanos , Judeus , Masculino , Pessoa de Meia-Idade , Gradação de Tumores , Metástase Neoplásica , Estadiamento de Neoplasias , New York/epidemiologia , Prevalência , Prognóstico , Neoplasias da Próstata/terapia
9.
PLoS One ; 8(6): e66961, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23840564

RESUMO

BACKGROUND: SLX4 encodes a DNA repair protein that regulates three structure-specific endonucleases and is necessary for resistance to DNA crosslinking agents, topoisomerase I and poly (ADP-ribose) polymerase (PARP) inhibitors. Recent studies have reported mutations in SLX4 in a new subtype of Fanconi anemia (FA), FA-P. Monoallelic defects in several FA genes are known to confer susceptibility to breast and ovarian cancers. METHODS AND RESULTS: To determine if SLX4 is involved in breast cancer susceptibility, we sequenced the entire SLX4 coding region in 738 (270 Jewish and 468 non-Jewish) breast cancer patients with 2 or more family members affected by breast cancer and no known BRCA1 or BRCA2 mutations. We found a novel nonsense (c.2469G>A, p.W823*) mutation in one patient. In addition, we also found 51 missense variants [13 novel, 23 rare (MAF<0.1%), and 15 common (MAF>1%)], of which 22 (5 novel and 17 rare) were predicted to be damaging by Polyphen2 (score = 0.65-1). We performed functional complementation studies using p.W823* and 5 SLX4 variants (4 novel and 1 rare) cDNAs in a human SLX4-null fibroblast cell line, RA3331. While wild type SLX4 and all the other variants fully rescued the sensitivity to mitomycin C (MMC), campthothecin (CPT), and PARP inhibitor (Olaparib) the p.W823* SLX4 mutant failed to do so. CONCLUSION: Loss-of-function mutations in SLX4 may contribute to the development of breast cancer in very rare cases.


Assuntos
Neoplasias da Mama/genética , Mutação , Recombinases/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Sequência de Bases , Linhagem Celular , Análise Mutacional de DNA , Predisposição Genética para Doença/genética , Humanos , Pessoa de Meia-Idade , Adulto Jovem
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