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1.
Arch Orthop Trauma Surg ; 140(10): 1381-1394, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-32086558

RESUMO

INTRODUCTION: Hip arthroplasty (HA) is commonly performed to treat various hip pathologies. Its volume is expected to rise further due to the increasing age of the population. Complication rates are low; however, periprosthetic femoral fractures (PFF) are a rare, albeit serious, complication with substantial economic impact. While current guidelines propose revision with long-stemmed prostheses for all Vancouver B2 and B3 PFF, some recent research papers suggest that open reduction with internal fixation (ORIF) could lead to an equivalent outcome. Our aim was to summarize the evidence, elucidating under which circumstances ORIF leads to a favorable outcome after B2 and B3 PFF compared with revision surgery. MATERIALS AND METHODS: A systematic literature search was performed to identify studies on patients treated with ORIF and with stem revision after B2 and/or B3 fractures. Extracted information included initial pathology, stem fixation mechanism, bone quality and stem stability at the time of PFF, clinical outcomes, and mortality. Results of individual studies were summarized in a table in lieu of a quantitative data synthesis due to a lack of standardized information. RESULTS: We identified 14 original research articles including both patients treated with ORIF and with stem revision after B2 and/or B3 PFF. Five studies included statistical comparisons, all were in favor of ORIF or indeterminate. The common lack of rigorous statistical analyses and significant methodological weaknesses made identification of outcome predictors impossible. CONCLUSION: The choice of treatment modality for PFF depends on fracture, implant, and bone characteristics. Recent data show that successful outcome can be achieved without revising loose stems. ORIF may be a viable option if bone stock is adequate around uncemented or tapered polished stems with an intact cement mantle and the fracture geometry allows stable anatomic reconstruction. Conceptional considerations support this idea, but more data are needed to identify outcome predictors.


Assuntos
Artroplastia de Quadril , Fraturas do Fêmur , Fixação Interna de Fraturas , Fraturas Periprotéticas/cirurgia , Reoperação , Artroplastia de Quadril/efeitos adversos , Artroplastia de Quadril/métodos , Fraturas do Fêmur/etiologia , Fraturas do Fêmur/cirurgia , Prótese de Quadril/efeitos adversos , Humanos , Complicações Pós-Operatórias/cirurgia
2.
Acta Orthop ; 88(2): 123-128, 2017 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-27882802

RESUMO

Background and purpose - To achieve a common understanding when dealing with long bone fractures in children, the AO Pediatric Comprehensive Classification of Long Bone Fractures (AO PCCF) was introduced in 2007. As part of its final validation, we present the most relevant fracture patterns in the upper extremities of a representative population of children classified according to the PCCF. Patients and methods - We included children and adolescents (0-17 years old) diagnosed with 1 or more long bone fractures between January 2009 and December 2011 at the university hospitals in Bern and Lausanne (Switzerland). Patient charts were retrospectively reviewed and fractures were classified from standard radiographs. Results - Of 2,292 upper extremity fractures in 2,203 children and adolescents, 26% involved the humerus and 74% involved the forearm. In the humerus, 61%, and in the forearm, 80% of single distal fractures involved the metaphysis. In adolescents, single humerus fractures were more often epiphyseal and diaphyseal fractures, and among adolescents radius fractures were more often epiphyseal fractures than in other age groups. 47% of combined forearm fractures were distal metaphyseal fractures. Only 0.7% of fractures could not be classified within 1 of the child-specific fracture patterns. Of the single epiphyseal fractures, 49% were Salter-Harris type-II (SH II) fractures; of these, 94% occurred in schoolchildren and adolescents. Of the metaphyseal fractures, 58% showed an incomplete fracture pattern. 89% of incomplete fractures affected the distal radius. Of the diaphyseal fractures, 32% were greenstick fractures. 24 Monteggia fractures occurred in pre-school children and schoolchildren, and 2 occurred in adolescents. Interpretation - The pattern of pediatric fractures in the upper extremity can be comprehensively described according to the PCCF. Prospective clinical studies are needed to determine its clinical relevance for treatment decisions and prognostication of outcome.


Assuntos
Fraturas do Úmero/epidemiologia , Fraturas do Rádio/epidemiologia , Fraturas da Ulna/epidemiologia , Adolescente , Distribuição por Idade , Índice de Massa Corporal , Criança , Pré-Escolar , Comorbidade , Diáfises/diagnóstico por imagem , Diáfises/lesões , Epífises/diagnóstico por imagem , Epífises/lesões , Feminino , Humanos , Fraturas do Úmero/classificação , Fraturas do Úmero/diagnóstico por imagem , Lactente , Recém-Nascido , Masculino , Obesidade/epidemiologia , Sobrepeso/epidemiologia , Radiografia , Fraturas do Rádio/classificação , Fraturas do Rádio/diagnóstico por imagem , Estudos Retrospectivos , Suíça/epidemiologia , Magreza/epidemiologia , Fraturas da Ulna/classificação , Fraturas da Ulna/diagnóstico por imagem
3.
Acta Orthop ; 88(2): 129-132, 2017 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-27882811

RESUMO

Background and purpose - To achieve a common understanding when dealing with long bone fractures in children, the AO Pediatric Comprehensive Classification of Long Bone Fractures (AO PCCF) was introduced in 2007. As part of its final validation, we present the most relevant fracture patterns in the lower extremities of a representative population of children classified according to the PCCF. Patients and methods - We included patients up to the age of 17 who were diagnosed with 1 or more long bone fractures between January 2009 and December 2011 at either of 2 tertiary care university hospitals in Switzerland. Patient charts were retrospectively reviewed. Results - More lower extremity fractures occurred in boys (62%, n = 341). Of 548 fractured long bones in the lower extremity, 25% involved the femur and 75% the lower leg. The older the patients, the more combined fractures of the tibia and fibula were sustained (adolescents: 50%, 61 of 123). Salter-Harris (SH) fracture patterns represented 66% of single epiphyseal fractures (83 of 126). Overall, 74 of the 83 SH patterns occurred in the distal epiphysis. Of all the metaphyseal fractures, 74 of 79 were classified as incomplete or complete. Complete oblique spiral fractures accounted for 57% of diaphyseal fractures (120 of 211). Of all fractures, 7% (40 of 548) were classified in the category "other", including 29 fractures that were identified as toddler's fractures. 5 combined lower leg fractures were reported in the proximal metaphysis, 40 in the diaphysis, 26 in the distal metaphysis, and 8 in the distal epiphysis. Interpretation - The PCCF allows classification of lower extremity fracture patterns in the clinical setting. Re-introduction of a specific code for toddler's fractures in the PCCF should be considered.


Assuntos
Fraturas do Fêmur/epidemiologia , Fraturas Ósseas/epidemiologia , Fraturas Salter-Harris/epidemiologia , Fraturas da Tíbia/epidemiologia , Adolescente , Distribuição por Idade , Criança , Pré-Escolar , Epífises/diagnóstico por imagem , Epífises/lesões , Feminino , Fraturas do Fêmur/classificação , Fraturas do Fêmur/diagnóstico por imagem , Fíbula/diagnóstico por imagem , Fíbula/lesões , Fraturas Ósseas/classificação , Fraturas Ósseas/diagnóstico por imagem , Humanos , Lactente , Recém-Nascido , Traumatismos da Perna/classificação , Traumatismos da Perna/diagnóstico por imagem , Traumatismos da Perna/epidemiologia , Masculino , Radiografia , Estudos Retrospectivos , Fraturas Salter-Harris/classificação , Fraturas Salter-Harris/diagnóstico por imagem , Distribuição por Sexo , Suíça/epidemiologia , Fraturas da Tíbia/classificação , Fraturas da Tíbia/diagnóstico por imagem
4.
Acta Orthop ; 88(2): 133-139, 2017 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-27882814

RESUMO

Background and purpose - The AO Pediatric Comprehensive Classification of Long Bone Fractures (PCCF) describes the localization and morphology of fractures, and considers severity in 2 categories: (1) simple, and (2) multifragmentary. We evaluated simple and multifragmentary fractures in a large consecutive cohort of children diagnosed with long bone fractures in Switzerland. Patients and methods - Children and adolescents treated for fractures between 2009 and 2011 at 2 tertiary pediatric surgery hospitals were retrospectively included. Fractures were classified according to the AO PCCF. Severity classes were described according to fracture location, patient age and sex, BMI, and cause of trauma. Results - Of all trauma events, 3% (84 of 2,730) were diagnosed with a multifragmentary fracture. This proportion was age-related: 2% of multifragmentary fractures occurred in school-children and 7% occurred in adolescents. In patients diagnosed with a single fracture only, the highest percentage of multifragmentation occurred in the femur (12%, 15 of 123). In fractured paired radius/ulna bones, multifragmentation occurred in 2% (11 of 687); in fractured paired tibia/fibula bones, it occurred in 21% (24 of 115), particularly in schoolchildren (5 of 18) and adolescents (16 of 40). In a multivariable regression model, age, cause of injury, and bone were found to be relevant prognostic factors of multifragmentation (odds ratio (OR) > 2). Interpretation - Overall, multifragmentation in long bone fractures in children was rare and was mostly observed in adolescents. The femur was mostly affected in single fractures and the lower leg was mostly affected in paired-bone fractures. The clinical relevance of multifragmentation regarding growth and long-term functional recovery remains to be determined.


Assuntos
Fraturas do Fêmur/epidemiologia , Traumatismos do Antebraço/epidemiologia , Fraturas Cominutivas/epidemiologia , Fraturas do Úmero/epidemiologia , Fraturas da Tíbia/epidemiologia , Adolescente , Fatores Etários , Criança , Pré-Escolar , Feminino , Fraturas do Fêmur/classificação , Fraturas do Fêmur/diagnóstico por imagem , Fíbula/diagnóstico por imagem , Fíbula/lesões , Traumatismos do Antebraço/classificação , Traumatismos do Antebraço/diagnóstico por imagem , Fraturas Cominutivas/classificação , Fraturas Cominutivas/diagnóstico por imagem , Humanos , Fraturas do Úmero/classificação , Fraturas do Úmero/diagnóstico por imagem , Lactente , Recém-Nascido , Modelos Logísticos , Masculino , Análise Multivariada , Razão de Chances , Prognóstico , Radiografia , Fraturas do Rádio/classificação , Fraturas do Rádio/diagnóstico por imagem , Fraturas do Rádio/epidemiologia , Estudos Retrospectivos , Suíça/epidemiologia , Fraturas da Tíbia/classificação , Fraturas da Tíbia/diagnóstico por imagem , Fraturas da Ulna/classificação , Fraturas da Ulna/diagnóstico por imagem , Fraturas da Ulna/epidemiologia
5.
Arch Orthop Trauma Surg ; 136(4): 553-61, 2016 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-26781127

RESUMO

INTRODUCTION: A systematic literature review on periprosthetic/interprosthetic fracture fixation after hip arthroplasties was performed to summarize available clinical data. Operation techniques and implants used were evaluated as possible risk factors for outcomes. MATERIALS AND METHODS: MEDLINE and Cochrane databases were searched. Articles describing patients with postoperative periprosthetic femur fractures sustained around a hip arthroplasty and with interprosthetic fractures treated with plates, nails, screws and/or cerclage were included. Considered articles were from 2000 or newer. Eligible abstracts were screened by two independent persons and discrepancies were resolved by consensus. Absolute numbers of complications and/or reoperation events along with their corresponding rates were calculated according to operation technique and type of implant. Relative risks of having a complication and/or a reoperation according to the operation technique and the type of implant used were estimated. RESULTS: Available data from 49 prospective and retrospective studies were analyzed. Of 1574 fractures, 81.7 % were treated with plating. For 83.0 % of all fractures, an open approach was applied. The overall complication rate was 14.3 %. Fixation failure and nonunion were most often reported (fixation failure: 4.4 %; nonunion: 3.9 %). Nonunion and refracture occurred more often after open approaches than after minimal invasive osteosynthesis (nonunion: 4.5 vs. 0.0 %, p = 0.001; refracture: 3.8 vs. 0.6 %. p = 0.024). The relative risk for nonunion was 11.9 (95 % CI 4.5-31.5) times higher (p < 0.0001) for non-locking plates (13.0 %) than for locking plates (1.1 %). CONCLUSIONS: The clinical evidence of published studies dealing with periprosthetic/interprosthetic fractures after hip arthroplasty is generally low. This literature search suggested higher rates of nonunion and refracture after an open approach and a higher risk of nonunion for non-locking plates compared to locking plates. Based on the available clinical evidence, no treatment recommendations can be given.


Assuntos
Artroplastia de Quadril/métodos , Fixação Interna de Fraturas/métodos , Fraturas do Quadril/cirurgia , Prótese de Quadril/efeitos adversos , Fraturas Periprotéticas/cirurgia , Artroplastia de Quadril/instrumentação , Fixação Interna de Fraturas/instrumentação , Fraturas do Quadril/etiologia , Humanos , Fraturas Periprotéticas/etiologia , Resultado do Tratamento
6.
Am J Med Genet A ; 158A(6): 1262-8, 2012 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-22581752

RESUMO

Pericentric chromosome inversions are often associated with infertility, recurrent pregnancy loss, and an increased risk for offspring with congenital anomalies. We report on a chromosome 1 inversion between 1p36.21 and 1q42.13, one of the largest described familial pericentric inversions of chromosome 1. The inversion was ascertained following the birth of a female with multiple congenital anomalies due to a recombinant chromosome 1. The inversion was subsequently detected or inferred in 16 healthy individuals over five generations. Interestingly, with a ratio of 16 carriers to 6 noncarriers, there appears to be transmission distortion of the inverted chromosome 1 within the family. Although there is no reported difficulty conceiving in the family, the risk of miscarriage is higher than predicted at 34% (13/38). The recurrence risk of a recombinant chromosome also appears to be lower than expected based on the mode of ascertainment. This case contributes to the spectrum of clinical features of chromosome 1 recombinants and raises the question of whether or not there is a selective advantage of the inverted chromosome at meiosis, conception, or post-zygotically that has contributed to transmission distortion of the inverted chromosome.


Assuntos
Anormalidades Múltiplas/genética , Inversão Cromossômica , Linhagem , Anormalidades Múltiplas/diagnóstico , Adulto , Autopsia , Bandeamento Cromossômico , Mapeamento Cromossômico , Cromossomos Humanos Par 1 , Evolução Fatal , Feminino , Humanos , Recém-Nascido
7.
JMIR Form Res ; 3(2): e10880, 2019 Apr 12.
Artigo em Inglês | MEDLINE | ID: mdl-30977735

RESUMO

BACKGROUND: Patient-reported outcomes are increasingly utilized in routine orthopedic clinical care. Computer adaptive tests (CATs) from the Patient-Reported Outcomes Measurement Information System (PROMIS) offer a brief and precise assessment that is well suited for collection within busy clinical environments. However, software apps that support the administration and scoring of CATs, provide immediate access to patient-reported outcome (PRO) scores, and minimize clinician burden are not widely available. OBJECTIVE: Our objective was to design, implement, and test the feasibility and usability of a Web-based system for collecting CATs in orthopedic clinics. METHODS: AO Patient Outcomes Center (AOPOC) was subjected to 2 rounds of testing. Alpha testing was conducted in 3 orthopedic clinics to evaluate ease of use and feasibility of integration in clinics. Patients completed an assessment of PROMIS CATs and a usability survey. Clinicians participated in a brief semistructured interview. Beta-phase testing evaluated system performance through load testing and usability of the updated version of AOPOC. In both rounds of testing, user satisfaction, bugs, change requests, and performance of PROMIS CATs were captured. RESULTS: Patient feedback supported the ease of use in completing an assessment in AOPOC. Across both phases of testing, clinicians rated AOPOC as easy to use but noted difficulties in integrating a Web-based software application within their clinics. PROMIS CATs performed well; the default assessment of 2 CATs was completed quickly (mean 9.5 items) with a satisfactory range of measurement. CONCLUSION: AOPOC was demonstrated to be an easy-to-learn and easy-to-use software application for patients and clinicians that can be integrated into orthopedic clinical care. The workflow disruption in integrating any type of PRO collection must be addressed if patients' voices are to be better integrated in clinical care.

8.
BMJ Open ; 8(6): e020629, 2018 06 11.
Artigo em Inglês | MEDLINE | ID: mdl-29895649

RESUMO

OBJECTIVE: To gain information about the advantages/disadvantages of an implementation of patient-reported outcome measures (PROM) into the clinical routine of trauma/orthopaedic surgeons, and to identify the technical constraints confronting a successful implementation of PROMs. DESIGN: Online survey. PARTICIPANTS: Surgeons who are members of the AO Foundation. MEASURES: Participants answered questions regarding demographics, their familiarity with specific and generic PROMs and the use of PROMs in clinical routine. Furthermore, reasons for/against using PROMs, why not used more often, prerequisites to implement PROMs into clinical routine and whether PROMs would be implemented if adequate tools/technologies were available, were solicited. Χ2 tests and multivariable logistic regressions were conducted to evaluate the effect of the AO Region, surgeon specialisation, current position, clinical experience, and workplace on the familiarity with disease-specific PROMs, the familiarity with generic PROMs and the current use of PROMs. Exploratory factor analysis was used to identify issues underlying the extent of PROM usage. RESULTS: 1212 surgeons completed the survey (response rate: 6.8%; margin of error: ±2.72%): 54.2% were trauma/orthopaedic surgeons, 16.6% were spine surgeons, 27.9% were craniomaxillofacial surgeons and 16 had no defined specialty. Working in a certain AO Region, surgical specialisation and current workplace were associated with a higher familiarity of disease-specific PROMs and the use of PROMs in daily clinical routine (p≤0.05). Exploratory factor analysis identified four categories important for the use of PROMs and two categories preventing the use of PROMs. In case of the availability of an adequate tool, 66.2% of surgeons would implement PROMs in clinical routine. CONCLUSIONS: Our survey results provide an understanding of the use of PROMs in clinical routine. There is consensus on the usefulness of PROMs. User-friendly and efficient tools/technologies would be a prerequisite for the daily use of PROMs. Additionally, educational efforts and/or policies might help.


Assuntos
Consenso , Medidas de Resultados Relatados pelo Paciente , Cirurgiões/estatística & dados numéricos , Adulto , Idoso , Compreensão , Face/cirurgia , Feminino , Humanos , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Análise Multivariada , Procedimentos Ortopédicos/métodos , Amplitude de Movimento Articular , Coluna Vertebral/cirurgia , Adulto Jovem
9.
Nat Genet ; 46(2): 182-7, 2014 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-24362817

RESUMO

Constitutional SMARCB1 mutations at 22q11.23 have been found in ∼50% of familial and <10% of sporadic schwannomatosis cases. We sequenced highly conserved regions along 22q from eight individuals with schwannomatosis whose schwannomas involved somatic loss of one copy of 22q, encompassing SMARCB1 and NF2, with a different somatic mutation of the other NF2 allele in every schwannoma but no mutation of the remaining SMARCB1 allele in blood and tumor samples. LZTR1 germline mutations were identified in seven of the eight cases. LZTR1 sequencing in 12 further cases with the same molecular signature identified 9 additional germline mutations. Loss of heterozygosity with retention of an LZTR1 mutation was present in all 25 schwannomas studied. Mutations segregated with disease in all available affected first-degree relatives, although four asymptomatic parents also carried an LZTR1 mutation. Our findings identify LZTR1 as a gene predisposing to an autosomal dominant inherited disorder of multiple schwannomas in ∼80% of 22q-related schwannomatosis cases lacking mutation in SMARCB1.


Assuntos
Cromossomos Humanos Par 22/genética , Predisposição Genética para Doença/genética , Mutação em Linhagem Germinativa/genética , Modelos Moleculares , Neurilemoma/genética , Conformação Proteica , Fatores de Transcrição/genética , Sequência de Bases , Proteínas Cromossômicas não Histona/genética , DNA Complementar/genética , Proteínas de Ligação a DNA/genética , Componentes do Gene , Genes Dominantes/genética , Humanos , Perda de Heterozigosidade , Repetições de Microssatélites/genética , Dados de Sequência Molecular , Neurofibromatose 2/genética , Linhagem , Proteína SMARCB1 , Análise de Sequência de DNA , Fatores de Transcrição/química
10.
Pediatr Dev Pathol ; 12(1): 53-8, 2009.
Artigo em Inglês | MEDLINE | ID: mdl-19243213

RESUMO

A 37-year-old woman presented for routine obstetrical care at 15 weeks' gestational age and the fetus was found to have hydrops fetalis. Following elective termination of the pregnancy at 18 weeks' gestational age, pathologic examination of the female conceptus revealed findings suggestive of a lysosomal storage disease within the liver and cardiac muscle. Enzyme assays for beta-galactosidase, neuraminidase, alpha-l-iduronidase, beta-glucuronidase, beta-glucosidase, Morquio disease type A enzyme, beta-fucosidase, alpha-mannosidase, and beta-mannosidase were all normal, ruling out many of the common storage diseases. Electron microscopy identified vacuoles within hepatocytes, Kupffer cells, and cardiac myocytes resembling the autophagic vacuoles characteristic of a group of diseases known as the autophagic vacuolar myopathies (AVMs). Because these diseases are exceptionally rare in females, and because such autophagic vacuoles have never before been described in liver, we propose a novel entity of "AVM-like lysosomal storage disease" presenting as nonimmune hydrops in a female fetus.


Assuntos
Autofagia , Hidropisia Fetal/patologia , Doenças por Armazenamento dos Lisossomos/patologia , Doenças Musculares/congênito , Vacúolos/patologia , Anormalidades Múltiplas/patologia , Adulto , Feminino , Feto , Hepatócitos/ultraestrutura , Humanos , Células de Kupffer/ultraestrutura , Doenças por Armazenamento dos Lisossomos/enzimologia , Doenças por Armazenamento dos Lisossomos/genética , Microscopia Eletrônica de Transmissão , Doenças Musculares/patologia , Miócitos Cardíacos/ultraestrutura , Gravidez
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