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1.
Clin Orthop Relat Res ; 475(3): 698-704, 2017 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-26926774

RESUMO

BACKGROUND: Compressive osseointegration is as an alternative to traditional intramedullary fixation. Two- to 10-year survivorship and modes of failure have been reported; however, as a result of relatively small numbers, these studies are limited in their ability to identify risk factors for failure. QUESTIONS/PURPOSES: (1) What is survivorship free from aseptic mechanical and survivorship free from overall failure of compressive osseointegration fixation? (2) What patient factors (age, sex, body mass index [BMI], anatomic location of reconstruction, indication for reconstruction, radiation, chemotherapy) are associated with increased risk of failure? METHODS: Between 2006 and 2014, surgeons at one center treated 116 patients with 137 Compress® implants for lower extremity oncologic reconstructions, revision arthroplasty, and fracture nonunion or malunion. One hundred sixteen implants were available for review with a minimum of 2-year followup (mean, 4 years; range, 2-9 years). Kaplan-Meier survival plots were produced to examine survivorship and Cox regression modeling was used to generate hazard ratios (HRs) for potential risk factors for failure. Patient factors (age, sex, BMI, anatomic location of reconstruction, indication for reconstruction, radiation, chemotherapy) were obtained from chart review and an institutional database. RESULTS: Survivorship free from aseptic mechanical failure was 95% (95% confidence interval [CI], 91%-99%) at 18 months and 93% (95% CI, 86%-99%) at 4 years. Survivorship free from overall failure was 82% (95% CI, 75%-89%) at 18 months and 75% (95% CI, 66%-84%) at 4 years. Risk of overall failure was increased with reconstruction of the proximal tibia (HR, 4.42; 95% CI 0.98-19.9) and distal femur (HR, 1.74; 95% CI, 0.50-6.09) compared to the proximal femur (HR, 1; referent; p = 0.049). Risk of aseptic mechanical failure was increased with reconstruction of the proximal tibia (HR, 1; referent) and distal femur (HR, 0.37; 95% CI, 0.08-1.77) compared with the proximal femur (HR, 0, p = 0.048). Radiation was associated with increased risk of overall failure (HR, 3.85; 95% CI, 1.84-8.02; p < 0.003), but not aseptic mechanical failure. Age, sex, BMI, chemotherapy, and surgical indication were not associated with increased risk of aseptic or overall failure. CONCLUSIONS: This study questions the use of age as a contraindication for the use of this technology and suggests this technology may be considered in proximal femoral reconstruction and for patients with indications other than primary oncologic reconstructions. Future research should establish long-term survivorship data to compare this approach with conventional intramedullary stems and to evaluate the potential benefits of preventing stress shielding and preserving bone stock in revision situations. LEVEL OF EVIDENCE: Level III, therapeutic study.


Assuntos
Artroplastia de Quadril/instrumentação , Artroplastia do Joelho/instrumentação , Fraturas do Fêmur/cirurgia , Neoplasias Femorais/cirurgia , Fraturas Mal-Unidas/cirurgia , Fraturas não Consolidadas/cirurgia , Hemiartroplastia/instrumentação , Prótese de Quadril , Prótese do Joelho , Osseointegração , Tíbia/cirurgia , Fraturas da Tíbia/cirurgia , Adulto , Idoso , Artroplastia de Quadril/efeitos adversos , Artroplastia do Joelho/efeitos adversos , Bases de Dados Factuais , Intervalo Livre de Doença , Feminino , Fraturas do Fêmur/diagnóstico por imagem , Fraturas do Fêmur/fisiopatologia , Neoplasias Femorais/diagnóstico por imagem , Neoplasias Femorais/patologia , Neoplasias Femorais/fisiopatologia , Consolidação da Fratura , Fraturas Mal-Unidas/diagnóstico por imagem , Fraturas Mal-Unidas/fisiopatologia , Fraturas não Consolidadas/diagnóstico por imagem , Fraturas não Consolidadas/fisiopatologia , Hemiartroplastia/efeitos adversos , Humanos , Estimativa de Kaplan-Meier , Masculino , Prontuários Médicos , Pessoa de Meia-Idade , Oregon , Osteotomia , Modelos de Riscos Proporcionais , Desenho de Prótese , Reoperação , Fatores de Risco , Tíbia/diagnóstico por imagem , Tíbia/patologia , Tíbia/fisiopatologia , Fraturas da Tíbia/diagnóstico por imagem , Fraturas da Tíbia/fisiopatologia , Fatores de Tempo , Falha de Tratamento
2.
Am J Hum Genet ; 91(4): 646-59, 2012 Oct 05.
Artigo em Inglês | MEDLINE | ID: mdl-23040494

RESUMO

About half of people with trisomy 21 have a congenital heart defect (CHD), whereas the remainder have a structurally normal heart, demonstrating that trisomy 21 is a significant risk factor but is not causal for abnormal heart development. Atrioventricular septal defects (AVSD) are the most commonly occurring heart defects in Down syndrome (DS), and ∼65% of all AVSD is associated with DS. We used a candidate-gene approach among individuals with DS and complete AVSD (cases = 141) and DS with no CHD (controls = 141) to determine whether rare genetic variants in genes involved in atrioventricular valvuloseptal morphogenesis contribute to AVSD in this sensitized population. We found a significant excess (p < 0.0001) of variants predicted to be deleterious in cases compared to controls. At the most stringent level of filtering, we found potentially damaging variants in nearly 20% of cases but fewer than 3% of controls. The variants with the highest probability of being damaging in cases only were found in six genes: COL6A1, COL6A2, CRELD1, FBLN2, FRZB, and GATA5. Several of the case-specific variants were recurrent in unrelated individuals, occurring in 10% of cases studied. No variants with an equal probability of being damaging were found in controls, demonstrating a highly specific association with AVSD. Of note, all of these genes are in the VEGF-A pathway, even though the candidate genes analyzed in this study represented numerous biochemical and developmental pathways, suggesting that rare variants in the VEGF-A pathway might contribute to the genetic underpinnings of AVSD in humans.


Assuntos
Síndrome de Down/genética , Comunicação Interatrial/genética , Comunicação Interventricular/genética , Fator A de Crescimento do Endotélio Vascular/genética , Estudos de Casos e Controles , Predisposição Genética para Doença , Variação Genética , Humanos , RNA não Traduzido/genética
3.
Artigo em Inglês | MEDLINE | ID: mdl-38000536

RESUMO

Broadly speaking, the term "narrative" is defined as any account of connected events and experiences. Narrative is used in several therapeutic interventions within behavioral health. Narrative approaches can be an affirming process for the patient and can increase a therapist's understanding of their patients' perspectives.1 Unfortunately, there is a lack of medical education and training on narrative approaches, and these remain underutilized in clinical settings. Comics are an accessible medium of expression that can empower the voices of underrepresented individuals and communities.

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