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1.
J Hand Surg Am ; 2024 Jun 25.
Artigo em Inglês | MEDLINE | ID: mdl-38934999

RESUMO

PURPOSE: The purpose of this study was to assess the content, construct, and discriminative validity and responsiveness of the Patient-Specific Functional Scale (PSFS) in patients with thumb carpometacarpal arthritis. METHODS: Data were collected at Xpert Clinics, comprising 34 outpatient hand surgery and hand therapy clinics in the Netherlands. We included 267 patients for content validity and 323 patients for construct validity and responsiveness. The PSFS items were classified into the International Classification of Function Core Set for Hand Conditions to assess content validity. We used hypothesis testing to investigate the construct validity and responsiveness. The Michigan Hand Outcomes Questionnaire was used as a comparator instrument. The standardized response mean was calculated to evaluate the magnitude of change. For discriminative validity, we used independent t tests to discriminate between satisfied and dissatisfied patients. RESULTS: We classified 98% of the PSFS items in the International Classification of Function "activities" and "participation" domains, indicating good content validity. Two of six hypotheses for construct validity and three of six hypotheses for responsiveness were confirmed. The standardized response mean for the PSFS was 0.57 (0.46-0.68) and 0.47 (0.35-0.58) for the Michigan Hand Outcomes Questionnaire total score. The mean PSFS score showed good discriminative validity because it could distinguish between satisfied and dissatisfied patients at the 3-month follow-up. CONCLUSIONS: The PSFS scores showed good content and discriminative validity in patients with first carpometacarpal arthritis. Hypothesis testing for responsiveness and construct validity indicates that the PSFS measures a unique construct different from the Michigan Hand Outcomes Questionnaire. CLINICAL RELEVANCE: The PSFS may be a useful scale for measuring the patient-specific status of individuals with thumb carpometacarpal arthritis.

2.
Artigo em Inglês | MEDLINE | ID: mdl-37449885

RESUMO

BACKGROUND: Mental health influences symptoms, outcomes, and decision-making in musculoskeletal healthcare. Implementing measures of mental health in clinical practice can be challenging. An ultrashort screening tool for mental health with a low burden is currently unavailable but could be used as a conversation starter, expectation management tool, or decision support tool. QUESTIONS/PURPOSES: (1) Which items of the Pain Catastrophizing Scale (PCS), Patient Health Questionnaire (PHQ-4), and Brief Illness Perception Questionnaire (B-IPQ) are the most discriminative and yield a high correlation with the total scores of these questionnaires? (2) What is the construct validity and added clinical value (explained variance for pain and hand function) of an ultrashort four-item mental health screening tool? (3) What is the test-retest reliability of the screening tool? (4) What is the response time for the ultrashort screening tool? METHODS: This was a prospective cohort study. Data collection was part of usual care at Xpert Clinics, the Netherlands, but prospective measurements were added to this study. Between September 2017 and January 2022, we included 19,156 patients with hand and wrist conditions. We subdivided these into four samples: a test set to select the screener items (n = 18,034), a validation set to determine whether the selected items were solid (n = 1017), a sample to determine the added clinical value (explained variance for pain and hand function, n = 13,061), and a sample to assess the test-retest reliability (n = 105). Patients were eligible for either sample if they completed all relevant measurements of interest for that particular sample. To create an ultrashort screening tool that is valid, reliable, and has added value, we began by picking the most discriminatory items (that is, the items that were most influential for determining the total score) from the PCS, PHQ-4, and B-IPQ using chi-square automated interaction detection (a machine-learning algorithm). To assess construct validity (how well our screening tool assesses the constructs of interest), we correlated these items with the associated sum score of the full questionnaire in the test and validation sets. We compared the explained variance of linear models for pain and function using the screening tool items or the original sum scores of the PCS, PHQ-4, and B-IPQ to further assess the screening tool's construct validity and added value. We evaluated test-retest reliability by calculating weighted kappas, ICCs, and the standard error of measurement. RESULTS: We identified four items and used these in the screening tool. The screening tool items were highly correlated with the PCS (Pearson coefficient = 0.82; p < 0.001), PHQ-4 (0.87; p < 0.001), and B-IPQ (0.85; p < 0.001) sum scores, indicating high construct validity. The full questionnaires explained only slightly more variance in pain and function (10% to 22%) than the screening tool did (9% to 17%), again indicating high construct validity and much added clinical value of the screening tool. Test-retest reliability was high for the PCS (ICC 0.75, weighted kappa 0.75) and B-IPQ (ICC 0.70 to 0.75, standard error of measurement 1.3 to 1.4) items and moderate for the PHQ-4 item (ICC 0.54, weighted kappa 0.54). The median response time was 43 seconds, against more than 4 minutes for the full questionnaires. CONCLUSION: Our ultrashort, valid, and reliable screening tool for pain catastrophizing, psychologic distress, and illness perception can be used before clinician consultation and may serve as a conversation starter, an expectation management tool, or a decision support tool. The clinical utility of the screening tool is that it can indicate that further testing is warranted, guide a clinician when considering a consultation with a mental health specialist, or support a clinician in choosing between more invasive and less invasive treatments. Future studies could investigate how the tool can be used optimally and whether using the screening tool affects daily clinic decisions. LEVEL OF EVIDENCE: Level II, diagnostic study.

3.
J Hand Surg Am ; 48(5): 469-478, 2023 05.
Artigo em Inglês | MEDLINE | ID: mdl-36932010

RESUMO

PURPOSE: The primary aim of this study was to report complications during the first year after trapeziectomy with Weilby sling using a standardized tool designed by the International Consortium for Health Outcome Measures. The secondary aim was to determine the association of complications and patient-reported outcomes 12 months after surgery. METHODS: We included patients who underwent trapeziectomy with Weilby sling between November 2013 and December 2018. All complications during the first year were scored using the International Consortium for Health Outcomes Measurement Complications in Hand and Wrist conditions (ICHAW) tool. Pain and hand function were measured before surgery and 12 months after surgery using the Michigan Hand Outcomes Questionnaire (MHQ). Minimally Important Change thresholds of 18.6 for MHQ pain and 9.4 for MHQ function were used to determine clinical importance. RESULTS: Of 531 patients after trapeziectomy with Weilby sling, 65% had an uneventful recovery, 16% experienced ICHAW Grade 1 deviations only, and 19% experienced Grade 2 or 3 deviations, including requiring antibiotics, corticosteroid injections, or additional surgery. On average, patients improved in pain and hand function, even in the presence of ICHAW events. Although all ICHAW grades were associated with poorer patient-reported outcomes 12 months after surgery, Grade 2 and 3 exceeded the Minimally Important Change threshold for pain and/or function. CONCLUSIONS: In 531 patients, 65% had an uneventful recovery, 16% experienced ICHAW Grade 1 deviations only, and 19% experienced grade 2 or 3 deviations. We recommend describing Grade 1 as "adverse protocol deviations" and grade 2 and 3 as complications, because of clinically relevant poorer patient-reported outcomes 12 months after surgery. The ICHAW is a promising tool to evaluate systematically and compare complications in hand surgery, although we recommend further evaluation. TYPE OF STUDY/LEVEL OF EVIDENCE: Therapeutic IV.


Assuntos
Articulações Carpometacarpais , Trapézio , Humanos , Estudos de Coortes , Prevalência , Trapézio/cirurgia , Polegar/cirurgia , Equipamentos Ortopédicos , Articulações Carpometacarpais/cirurgia
4.
Med Educ ; 55(3): 317-327, 2021 03.
Artigo em Inglês | MEDLINE | ID: mdl-32790885

RESUMO

OBJECTIVES: The features that contribute to the apparent effectiveness of three-dimensional visualisation technology [3DVT] in teaching anatomy are largely unknown. The aim of this study was to conduct a systematic review and meta-analysis of the role of stereopsis in learning anatomy with 3DVT. METHODS: The review was conducted and reported according to PRISMA Standards. Literature search of English articles was performed using EMBASE, MEDLINE, CINAHL EBSCOhost, ERIC EBSCOhost, Cochrane CENTRAL, Web of Science and Google Scholar databases until November 2019. Study selection, data extraction and study appraisal were performed independently by two authors. Articles were assessed for methodological quality using the Medical Education Research Study Quality Instrument and the Cochrane Collaboration's tool for assessing the risk of bias. For quantitative analysis, studies were grouped based on relative between-intervention differences in instructional methods and type of control conditions. RESULTS: A total of 3934 citations were obtained of which 67 underwent a full-text review. Ultimately, 13 randomised controlled trials were included in the meta-analysis. When interactive, stereoscopic 3D models were compared to interactive, monoscopic 3D models within a single level of instructional design, for example isolating stereopsis as the only true manipulated element in the experimental design, an effect size [ES] of 0.53 (95% confidence interval [CI] 0.26-0.80; P < .00001) was found. In comparison with 2D images within multiple levels of instructional design, an effect size of 0.45 (95% CI 0.10-0.81; P < .002) was found. Stereopsis had no effect on learning when utilised with non-interactive 3D images (ES = -0.87, 95% CI -2.09-0.35; P = .16). CONCLUSION: Stereopsis is an important distinguishing element of 3DVT that has a significant positive effect on acquisition of anatomical knowledge when utilised within an interactive 3D environment. A distinction between stereoscopic and monoscopic 3DVT is essential to make in anatomical education and research.


Assuntos
Educação Médica , Aprendizagem , Percepção de Profundidade , Humanos , Tecnologia
5.
J Hand Surg Am ; 46(10): 841-855.e7, 2021 10.
Artigo em Inglês | MEDLINE | ID: mdl-34325941

RESUMO

PURPOSE: To describe the principles, process, and results of creating the International Consortium for Health Outcomes Measurement (ICHOM) standard set for hand and wrist conditions. METHODS: Following the standardized methods of ICHOM, an international working group of hand surgeons, therapists, and researchers was assembled to develop an evidence-based, patient-centered, standard set of outcome measures for patients with hand and wrist conditions. Multiple systematic reviews were performed to support our choices of outcome domains and tools for hand and wrist conditions. Fourteen video conferences were held between March 2018 and March 2020, and a modified Delphi process was used. RESULTS: A consensus was reached on 5 measurement tracks: the thumb, finger, wrist, nerve, and severe hand trauma tracks, with a distinction between regular and extended tracks for which specific allocation criteria applied. The standard set contains a selection of outcome tools and predefined time points for outcome measurement. Additionally, we developed a hierarchy for using the tracks when there are multiple conditions, and we selected risk-adjustment, case-mix variables. CONCLUSIONS: The global implementation of the ICHOM standard set for hand and wrist conditions may facilitate value-based health care for patients with hand and wrist conditions. CLINICAL RELEVANCE: The ICHOM standard set for hand and wrist conditions can enable clinical decision making, quality improvement, and comparisons between treatments and health care professionals.


Assuntos
Medidas de Resultados Relatados pelo Paciente , Punho , Consenso , Humanos
6.
Arch Phys Med Rehabil ; 101(3): 434-441, 2020 03.
Artigo em Inglês | MEDLINE | ID: mdl-31610153

RESUMO

OBJECTIVE: To describe outcomes of nonsurgical treatment for symptomatic thumb carpometacarpal joint (CMC-1) instability. Secondary, to evaluate the conversion rate to surgical treatment. DESIGN: Prospective cohort study. SETTING: A total of 20 outpatient clinics for hand surgery and hand therapy in the Netherlands. PARTICIPANTS: A consecutive sample of patients with symptomatic CMC-1 instability (N=431). INTERVENTION: Nonsurgical treatment including exercise therapy and an orthosis. MAIN OUTCOME MEASURES: Pain (visual analog scale [VAS], 0-100) and hand function (Michigan Hand Outcomes Questionnaire [MHQ], 0-100) at baseline, 6 weeks, and 3 months. Conversion to surgery was recorded for all patients with a median follow-up of 2.8 years (range, 0.8-6.7y). RESULTS: VAS scores for pain during the last week, at rest, and during physical load improved with a mean difference at 3 months of 17 (97.5% CI, 9-25), 13 (97.5% CI, 9-18), and 19 (97.5% CI, 12-27), respectively (P<.001). No difference was present at 3 months for MHQ total score, but the subscales activities of daily living, work, pain, and satisfaction improved by 7 (97.5% CI, 1-14), 10 (97.5% CI, 4-16), 5 (97.5% CI, 2-9), and 12 (97.5% CI, 2-22) points, respectively (P<.001-.007). After median follow-up of 2.8 years, only 59 participants (14%) were surgically treated. Both in the subgroups that did and did not convert to surgery, VAS pain scores decreased at 3 months compared with baseline (P<.001-.010), whereas MHQ total score did not improve in both subgroups. However, VAS and MHQ scores remained worse for patients who eventually converted to surgery (P<.001). CONCLUSIONS: In this large sample of patients with symptomatic CMC-1 instability, nonsurgical treatment demonstrated clinically relevant improvements in pain and aspects of hand function. Furthermore, after 2.8 years, only 14% of all patients were surgically treated, indicating that nonsurgical treatment is a successful treatment of choice.


Assuntos
Articulações Carpometacarpais/fisiopatologia , Instabilidade Articular/fisiopatologia , Instabilidade Articular/reabilitação , Atividades Cotidianas , Adulto , Feminino , Humanos , Masculino , Países Baixos , Medição da Dor , Estudos Prospectivos , Inquéritos e Questionários
7.
Microsurgery ; 40(5): 585-592, 2020 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-32233045

RESUMO

PURPOSE: Adipose derived mesenchymal stem cells (MSCs) are hypothesized to supplement tissues with growth factors essential for regeneration and neovascularization. The purpose of this study was to determine the effect of MSCs with respect to neoangiogenesis when seeded onto a decellularized nerve allograft in a rat sciatic nerve defect model. METHODS: Allograft nerves were harvested from Sprague-Dawley rats and decellularized. MSCs were obtained from Lewis rats. 10 mm sciatic nerve defects in Lewis rats were reconstructed with reversed autograft nerves, decellularized allografts, decellularized allografts seeded with undifferentiated MSC or decellularized allografts seeded with differentiated MSCs. At 16 weeks, the vascular surface area and volume were evaluated. RESULTS: The vascular surface area in normal nerves (34.9 ± 5.7%), autografts (29.5 ± 8.7%), allografts seeded with differentiated (38.9 ± 7.0%) and undifferentiated MSCs (29.2 ± 3.4%) did not significantly differ from each other. Unseeded allografts (21.2 ± 6.2%) had a significantly lower vascular surface area percentage than normal nonoperated nerves (13.7%, p = .001) and allografts seeded with differentiated MSCs (17.8%, p = .001). Although the vascular surface area was significantly correlated to the vascular volume (r = .416; p = .008), no significant differences were found between groups concerning vascular volumes. The vascularization pattern in allografts seeded with MSCs consisted of an extensive nonaligned network of microvessels with a centripetal pattern, while the vessels in autografts and normal nerves were more longitudinally aligned with longitudinal inosculation patterns. CONCLUSIONS: Neoangiogenesis of decellularized allograft nerves was enhanced by stem cell seeding, in particular by differentiated MSCs. The pattern of vascularization was different between decellularized allograft nerves seeded with MSCs compared to autograft nerves.


Assuntos
Células-Tronco Mesenquimais , Aloenxertos , Animais , Regeneração Nervosa , Ratos , Ratos Endogâmicos Lew , Ratos Sprague-Dawley , Nervo Isquiático/cirurgia
8.
Arch Phys Med Rehabil ; 100(5): 844-850, 2019 05.
Artigo em Inglês | MEDLINE | ID: mdl-30316958

RESUMO

OBJECTIVES: (1) To identify predictive factors for outcome after splinting and hand therapy for carpometacarpal (CMC) osteoarthritis (OA) and to identify predictive factors for conversion to surgical treatment; and (2) to determine how many patients who have not improved in outcome within 6 weeks after start of treatment will eventually improve after 3 months. DESIGN: Observational prospective multicenter cohort study. SETTING: Xpert Clinic in the Netherlands. This clinic comprises 15 locations in the Netherlands, with 16 European Board certified (FESSH) hand surgeons and over 50 hand therapists. PARTICIPANTS: Between 2011 and 2014, patients with CMC OA (N=809) received splinting and weekly hand therapy for 3 months. INTERVENTION: Not applicable. MAIN OUTCOME MEASURES: Satisfaction and pain were measured with a visual analog scale and function with the Michigan Hand Questionnaire at baseline, 6 weeks, and 3 months posttreatment. Using regression analysis, patient demographics and pretreatment baseline scores were considered as predictors for the outcome of conservative treatment after 3 months and for conversion to surgery. RESULTS: Multivariable regression model explained 34%-42% of the variance in outcome (P<.001) with baseline satisfaction, pain, and function as significant predictors. Cox regression analysis showed that baseline pain and function were significant predictors for receiving surgery. Of patients with no clinically relevant improvement in pain and function after 6 weeks, 73%-83% also had no clinically relevant improvement after 3 months. CONCLUSION: This study showed that patients with either high pain or low function may benefit most from conservative treatment. We therefore recommend to always start with conservative treatment, regardless of symptom severity of functional loss at start of treatment. Furthermore, it seems valuable to discuss the possibility of surgery with patients after 6 weeks of therapy, when levels of improvement are still mainly unsatisfactory.


Assuntos
Terapia por Exercício , Dor Musculoesquelética/etiologia , Osteoartrite/reabilitação , Contenções , Idoso , Articulações Carpometacarpais , Tratamento Conservador , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Aparelhos Ortopédicos , Osteoartrite/fisiopatologia , Osteoartrite/cirurgia , Medição da Dor , Satisfação do Paciente , Estudos Prospectivos , Polegar , Resultado do Tratamento
9.
Arch Phys Med Rehabil ; 100(6): 1050-1060, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-30543802

RESUMO

OBJECTIVE: To compare the effect of exercises and orthotics with orthotics alone on pain and hand function in patients with first carpometacarpal joint (CMC-1) osteoarthritis (OA) and to predict outcomes on pain and hand function of exercises and orthotics. DESIGN: Prospective cohort study with propensity score matching. SETTING: Data collection took place in 13 outpatient clinics for hand surgery and hand therapy in The Netherlands. PARTICIPANTS: A consecutive, population-based sample of patients with CMC-1 OA (N=173) was included in this study, of which 84 were matched on baseline demographics and baseline primary outcomes. INTERVENTIONS: Exercises and orthotics versus orthotics alone. MAIN OUTCOME MEASURES: Primary outcomes included pain and hand function at 3 months, measured using visual analog scale (VAS, 0-100) and the Michigan Hand Outcomes Questionnaire (MHQ, 0-100). RESULTS: A larger decrease in VAS pain at rest (11.1 points difference; 95% confidence interval, 1.9-20.3; P=.002) and during physical load (22.7 points difference; 95% confidence interval, 13.6-31.0; P<.001) was found in the exercise + orthotic group compared to the orthotic group. In addition, larger improvement was found for the MHQ subscales pain, work performance, aesthetics, and satisfaction in the exercise + orthotic group. No differences were found on other outcomes. Baseline scores of metacarpophalangeal flexion, presence of scaphotrapeziotrapezoid OA, VAS pain at rest, heavy physical labor, and MHQ total predicted primary outcomes for the total exercise + orthotic group (N=131). CONCLUSIONS: Non-surgical treatment of patients with CMC-1 OA should include exercises, since there is a relatively large treatment effect compared to using an orthosis alone. Future research should study exercises and predictors in a more standardized setting to confirm this finding.


Assuntos
Terapia por Exercício , Dor Musculoesquelética/reabilitação , Aparelhos Ortopédicos , Osteoartrite/reabilitação , Idoso , Terapia Combinada , Feminino , Humanos , Masculino , Articulação Metacarpofalângica/fisiopatologia , Pessoa de Meia-Idade , Dor Musculoesquelética/etiologia , Osteoartrite/complicações , Medição da Dor , Esforço Físico , Pontuação de Propensão , Estudos Prospectivos , Amplitude de Movimento Articular , Descanso , Inquéritos e Questionários , Polegar
10.
Arch Phys Med Rehabil ; 100(11): 2022-2031.e1, 2019 11.
Artigo em Inglês | MEDLINE | ID: mdl-31026460

RESUMO

OBJECTIVE: To investigate if shorter immobilization is noninferior to longer immobilization after Weilby procedure for thumb carpometacarpal osteoarthritis DESIGN: Prospective cohort study with propensity score matching. SETTING: Data collection took place in 16 outpatient clinics for hand surgery and hand therapy. PARTICIPANTS: A total of 131 participants with shorter immobilization and 131 participants with longer immobilization (N=262). INTERVENTION: Shorter immobilization (3-5 days plaster cast followed by a thumb spica orthosis including wrist until 4 weeks postoperatively) was compared with longer immobilization (10-14 days plaster cast followed by a thumb spica orthosis including wrist until 6 weeks postoperatively) after Weilby procedure for first carpometacarpal joint osteoarthritis. Propensity score matching was used to control for confounders. MAIN OUTCOME MEASURES: Outcomes were pain measured with a visual analog scale and hand function measured with the Michigan Hand Outcomes Questionnaire at 3 and 12 months. Secondary outcomes were complications, range of motion, grip and pinch strength, satisfaction with treatment, and return to work. RESULTS: No significant differences were found in visual analog scale pain (effect size, 0.03; 95% confidence interval [CI], -0.21 to 0.27) or the Michigan Hand Outcomes Questionnaire (effect size, 0.01; 95% CI, -0.23 to 0.25) between the groups at 3 months or at 12 months. Furthermore, no differences were found in complication rate or in other secondary outcomes. CONCLUSIONS: In conclusion, shorter immobilization of 3-5 days of a plaster cast after Weilby procedure is equal to longer immobilization for outcomes on pain, hand function, and our secondary outcomes. These results indicate that shorter immobilization is safe and can be recommended, since discomfort of longer immobilization may be prevented and patients may be able to recover sooner, which may lead to reduced loss of productivity. Future studies need to investigate effectiveness of early active and more progressive hand therapy following first carpometacarpal joint arthroplasty.


Assuntos
Articulações Carpometacarpais/cirurgia , Imobilização/métodos , Osteoartrite/cirurgia , Cuidados Pós-Operatórios/métodos , Idoso , Moldes Cirúrgicos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Aparelhos Ortopédicos , Medição da Dor , Satisfação do Paciente , Força de Pinça , Pontuação de Propensão , Estudos Prospectivos , Amplitude de Movimento Articular , Polegar , Fatores de Tempo
11.
J Hand Surg Am ; 44(6): 514.e1-514.e11, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-30301645

RESUMO

PURPOSE: Adipose-derived mesenchymal stromal cells (MSCs) have emerged as promising tools for peripheral nerve reconstruction. There is a paucity of information regarding the ultimate survivorship of implanted MSCs or whether these cells remain where they are placed. The aim of the present study was to track the in vivo distribution and survival of MSCs seeded on a decellularized nerve allograft reconstruction of a peripheral nerve defect using luciferase-based bioluminescence imaging (BLI). METHODS: To determine the in vivo survivability of MSCs, autologous Lewis rat MSCs were stably labeled with luciferase by lentiviral particles. Labeled cells were dynamically seeded onto a Sprague Dawley decellularized rat nerve allograft and used to bridge a 10-mm sciatic nerve defect. The MSC survival was determined by performing in vivo BLI to detect living cells. Twelve animals were examined at 24 hours after implantation, 3, 7, 9, 11, and 14 days, and at daily intervals thereafter if signals were still present. RESULTS: Labeled MSCs could be detected for up to 29 days. Gradually diminishing BLI signals were observed within the first week following implantation. Implanted MSCs were not detected anywhere other than the site of surgery. CONCLUSIONS: The MSCs seeded on decellularized nerve allografts can survive in vivo but have finite survival after implantation. There was no evidence of migration of MSCs to surrounding tissues. CLINICAL RELEVANCE: The findings support a therapeutic approach that combines MSCs with a biological scaffold for peripheral nerve surgery. It provides understanding of the viability and distribution of implanted MSCs, which is a prerequisite before clinical translation can be considered.


Assuntos
Regeneração Tecidual Guiada/métodos , Transplante de Células-Tronco Mesenquimais , Nervos Periféricos/transplante , Nervo Isquiático/cirurgia , Aloenxertos , Animais , Sobrevivência Celular , Lentivirus/genética , Regeneração Nervosa , Ratos Sprague-Dawley , Nervo Isquiático/lesões , Transdução Genética
12.
Genet Med ; 20(11): 1405-1413, 2018 11.
Artigo em Inglês | MEDLINE | ID: mdl-29543231

RESUMO

PURPOSE: The zone of polarizing activity regulatory sequence (ZRS) is an enhancer that regulates sonic hedgehog during embryonic limb development. Recently, mutations in a noncoding evolutionary conserved sequence 500 bp upstream of the ZRS, termed the pre-ZRS (pZRS), have been associated with polydactyly in dogs and humans. Here, we report the first case of triphalangeal thumb-polysyndactyly syndrome (TPT-PS) to be associated with mutations in this region and show via mouse enhancer assays how this mutation leads to ectopic expression throughout the developing limb bud. METHODS: We used linkage analysis, whole-exome sequencing, Sanger sequencing, fluorescence in situ hybridization, multiplex ligation-dependent probe amplification, single-nucleotide polymorphism array, and a mouse transgenic enhancer assay. RESULTS: Ten members of a TPT-PS family were included in this study. The mutation was linked to chromosome 7q36 (LOD score 3.0). No aberrations in the ZRS could be identified. A point mutation in the pZRS (chr7:156585476G>C; GRCh37/hg19) was detected in all affected family members. Functional characterization using a mouse transgenic enhancer essay showed extended ectopic expression dispersed throughout the entire limb bud (E11.5). CONCLUSION: Our work describes the first mutation in the pZRS to be associated with TPT-PS and provides functional evidence that this mutation leads to ectopic expression of this enhancer within the developing limb.


Assuntos
Anormalidades Congênitas/genética , Predisposição Genética para Doença , Proteínas Hedgehog/genética , Disostose Mandibulofacial/genética , Proteínas de Membrana/genética , Animais , Cromossomos Humanos Par 7/genética , Elementos Facilitadores Genéticos/genética , Feminino , Regulação da Expressão Gênica/genética , Ligação Genética , Humanos , Hibridização in Situ Fluorescente , Botões de Extremidades/fisiopatologia , Masculino , Camundongos , Linhagem , Mutação Puntual/genética , Polimorfismo de Nucleotídeo Único , Sequenciamento do Exoma
13.
Muscle Nerve ; 57(3): 407-413, 2018 03.
Artigo em Inglês | MEDLINE | ID: mdl-28710794

RESUMO

INTRODUCTION: The sural nerve may be damaged after ankle injury. The aim of our study was to determine the diagnostic utility of high-resolution sonography in patients with ankle fractures treated by open reduction and internal fixation in whom there was a clinical suspicion of sural neuropathy. METHODS: We examined the ultrasound (US) characteristics of patients with and without postsurgical sural neuropathic pain and healthy volunteers. Cross-sectional area (CSA), echogenicity, and vascularization of the sural nerves were recorded. RESULTS: Fourteen participants and all sural nerves were identified. CSA (P < 0.001) and vascularization (P = 0.002) were increased in symptomatic patients when compared with asymptomatic patients and healthy volunteers. There were no significant differences in nerve echogenicity (P = 0.983). DISCUSSION: US may be a valuable tool for evaluating clinically suspected sural nerve damage after ankle stabilization surgery. Sural nerve abnormalities are seen in patients with postsurgical neuropathic pain. Muscle Nerve 57: 407-413, 2018.


Assuntos
Fraturas do Tornozelo/cirurgia , Tornozelo/cirurgia , Neuralgia/diagnóstico por imagem , Nervo Sural/diagnóstico por imagem , Tornozelo/diagnóstico por imagem , Fraturas do Tornozelo/diagnóstico por imagem , Estudos Transversais , Feminino , Humanos , Masculino , Ultrassonografia
14.
Arch Phys Med Rehabil ; 99(6): 1177-1212.e2, 2018 06.
Artigo em Inglês | MEDLINE | ID: mdl-29030095

RESUMO

OBJECTIVE: To provide an overview of rehabilitation for patients who underwent first carpometacarpal joint (CMC-1) arthroplasty, with emphasis on early active mobilization. DATA SOURCES: PubMed/MEDLINE, Embase, CINAHL, and Cochrane were searched. STUDY SELECTION: Articles written in English that described the postoperative regimen (including immobilization period/method and/or description of exercises/physical therapy, follow-up 6wk) on CMC-1 arthroplasty were included. DATA EXTRACTION: The Preferred Reporting Items for Systematic Reviews and Meta-Analyses statement was used as guidance in this review, and methodological quality was assessed using the Effective Public Health Practice Project quality assessment tool. Randomized studies were additionally scored using the Physiotherapy Evidence Database scale. DATA SYNTHESIS: Twenty-seven studies were included consisting of 1015 participants, in whom 1118 surgical procedures were performed. A summary of the components of postoperative rehabilitation used in the included studies of CMC-1 osteoarthritis is presented for different surgical interventions. We found that early active recovery (including short immobilization, early initiation of range of motion and strength exercises) provides positive outcomes for pain, limitations in activities of daily living, and grip and pinch strength, but comparative studies are lacking. Furthermore, 3 postoperative exercises/therapy phases were identified in the literature-the acute phase, the unloaded phase, and the functional phase-but again comparative studies are lacking. CONCLUSIONS: Early active recovery is used more often in the literature and does not lead to worse outcomes or more complications. This systematic review provides guidance for clinicians in the content of postoperative rehabilitation for CMC-1 arthroplasty. The review also clearly identifies the almost complete lack of high-quality comparative studies on postoperative rehabilitation after CMC-1 arthroplasty.


Assuntos
Artroplastia de Substituição de Dedo/reabilitação , Articulações Carpometacarpais/cirurgia , Modalidades de Fisioterapia , Atividades Cotidianas , Deambulação Precoce , Terapia por Exercício , Humanos , Imobilização/métodos , Força de Pinça , Amplitude de Movimento Articular , Recuperação de Função Fisiológica
15.
J Hand Surg Am ; 43(9): 869.e1-869.e11, 2018 09.
Artigo em Inglês | MEDLINE | ID: mdl-29573897

RESUMO

PURPOSE: Congenital upper limb anomalies (CULAs) exhibit a wide spectrum of phenotypic manifestations. To help the clinician evaluating this variety of CULAs, the Oberg, Manske, and Tonkin (OMT) classification was recently introduced. The OMT classification allows for documentation of combined hand anomalies. However, subsequent epidemiological and validation studies using the OMT scheme commonly registered only the main anomaly per arm. This study illustrates both the deficits of single diagnosis documentation as well as the merits of registering every anomaly for epidemiological research, outcome comparison, and overall applicability of the classification. METHODS: We retrospectively reviewed patients visiting the Erasmus MC - Sophia Children's Hospital between 2012 and 2014. All congenital anomalies of both limbs were classified according to the OMT scheme. The frequency of combined diagnoses as well as recurrent combinations were analyzed. The relation to the coregistered syndromes was studied. RESULTS: We included 746 patients, 79.5% of whom could be documented with a single OMT diagnosis. In 20.5%, a combination of OMT diagnoses was documented. We documented 149 different combinations: 102 were documented once, 47 were documented repeatedly (n = 196); for example, in patients with Greig syndrome. The prevalence of this syndrome was significantly higher in patients with a combination of radial polydactyly, ulnar polydactyly, and/or syndactyly (2.9% vs 33.3% and 60% in patients with 1 vs 2 and 3 diagnoses). CONCLUSIONS: Documentation of combined OMT diagnoses is required in a fifth of the patients. Not doing so will cause loss of phenotypic information and can hamper outcome comparison and epidemiological research. Documentation of combined OMT diagnoses can help to identify subgroups within a population, for example, patients with an underlying syndrome. Last, combined documentation of diagnoses improves flexibility of the classification and thereby better allows universal application. CLINICAL RELEVANCE: Consensus on the application of the OMT classification is critical to achieving the universal adoption of the system by hand surgeons and other medical professionals.


Assuntos
Deformidades Congênitas das Extremidades Superiores/classificação , Anormalidades Múltiplas/diagnóstico , Documentação , Humanos , Estudos Retrospectivos , Deformidades Congênitas das Extremidades Superiores/diagnóstico
16.
J Hand Surg Am ; 43(2): 186.e1-186.e16, 2018 02.
Artigo em Inglês | MEDLINE | ID: mdl-29033291

RESUMO

PURPOSE: Poland syndrome was first described as a deficiency of the pectoral muscle with ipsilateral symbrachydactyly. Currently, numerous case reports describe variations of Poland syndrome in which pectoral muscle deficiency is often used as the only defining criterion. However, more syndromes can present with pectoral muscle deficiency. The aim of this review is to illustrate the diversity of the phenotypic spectrum of Poland syndrome and to create more awareness for alternative diagnoses in pectoral muscle deficiency. METHODS: A systematic literature search was performed. Articles containing phenotypical descriptions of Poland syndrome were included. Data extraction included number of patients, sex, familial occurrence, and the definition of Poland syndrome used. In addition, hand deformities, thoracic deformities, and other deformities in each patient were recorded. Alternative syndrome diagnoses were identified in patients with a combination of hand, thorax, and other deformities. RESULTS: One hundred-and-thirty-six articles were included, describing 627 patients. Ten different definitions of Poland syndrome were utilized. In 58% of the cases, an upper extremity deformity was found and 43% of the cases had an associated deformity. Classic Poland syndrome was seen in 29%. Fifty-seven percent of the patients with a pectoral malformation, a hand malformation, and another deformity had at least 1feature that matched an alternative syndrome. CONCLUSIONS: Pectoral muscle hypoplasia is not distinctive for Poland syndrome alone but is also present in syndromes with other associated anomalies with a recognized genetic cause. Therefore, in patients with an atypical phenotype, we recommend considering other diagnoses and/or syndromes before diagnosing a patient with Poland syndrome. This can prevent diagnostic and prognostic errors. CLINICAL RELEVANCE: Differentiating Poland syndrome from the alternative diagnoses has serious consequences for the patient and their family in terms of inheritance and possible related anomalies.


Assuntos
Síndrome de Poland/diagnóstico , Anormalidades Múltiplas/diagnóstico , Diagnóstico Diferencial , Humanos , Músculos Peitorais/anormalidades , Fenótipo , Sindactilia/diagnóstico , Deformidades Congênitas das Extremidades Superiores/diagnóstico
17.
J Hand Surg Am ; 43(11): 1000-1009.e1, 2018 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-29776723

RESUMO

PURPOSE: Initial treatment for symptomatic carpometacarpal (CMC) osteoarthritis (OA) of the thumb is usually nonsurgical. However, evidence on the effect of a hand orthosis and hand therapy for mid- and long-term results is limited, and it is unknown how many patients undergo additional surgical treatment. Therefore, the aim of this study is to describe the outcome of a hand orthosis and hand therapy for CMC OA in a large cohort study, and to evaluate the conversion rate to surgical treatment. METHODS: In this multicenter, prospective cohort study, patients treated with a hand orthosis and hand therapy for primary CMC OA between 2011 and 2014 were included. Pain (visual analog scale) and function (Michigan Hand Questionnaire) were measured at baseline, 6 weeks, 3 months, and at 12 months after the start of treatment. All patients converted to surgery were recorded between 2012 and 2016. Outcome was compared with baseline, and post hoc comparisons were made between patients who were not converted to surgery and patients who were converted to surgery after initially receiving a hand orthosis and hand therapy. Lastly, subgroup analysis was performed based on baseline pain levels. RESULTS: After a mean follow-up of 2.2 ± 0.9 years, 15% of all patients were surgically treated. In the group that was not converted to surgery, pain (visual analog scale) significantly improved from 49 ± 20 at baseline to 36 ± 24 at 12 months. The Michigan Hand Questionnaire score was essentially unchanged from 65 ± 15 at baseline to 69 ± 10 at 12 months. Post hoc testing showed that improvement in pain was only significant between baseline and 6 weeks, and thereafter stabilized until 1 year after the start of treatment. The group that converted to surgery did not show any improvement in pain and function at follow-up. CONCLUSIONS: In this cohort of patients with thumb CMC OA who underwent hand therapy including an orthosis, 15% of the patients underwent additional surgical treatment. The patients (85%) who did not undergo surgery improved in pain and function, although only improvements in pain were significant and clinically relevant. Most improvement was seen in the first 6 weeks and stabilized till 1 year after the start of treatment. TYPE OF STUDY/LEVEL OF EVIDENCE: Therapeutic II.


Assuntos
Articulações Carpometacarpais/fisiopatologia , Aparelhos Ortopédicos , Osteoartrite/reabilitação , Modalidades de Fisioterapia , Polegar/fisiopatologia , Articulações Carpometacarpais/cirurgia , Estudos de Coortes , Feminino , Seguimentos , Humanos , Masculino , Osteoartrite/fisiopatologia , Osteoartrite/cirurgia , Inquéritos e Questionários , Polegar/cirurgia , Escala Visual Analógica
19.
Microsurgery ; 38(7): 772-779, 2018 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-30230005

RESUMO

BACKGROUND: A bridging nerve autograft is the gold standard for the repair of segmental nerve injury that cannot be repaired directly. However, limited availability and donor site morbidity remain major disadvantages of autografts. Here, a nerve allograft decellularized with elastase was compared with an autograft regarding functional motor outcome in a rat sciatic segmental nerve defect model. Furthermore, the effect of storage on this allograft was studied. METHODS: Sixty-six Lewis rats (250-300 g) underwent a 10-mm sciatic nerve reconstruction using either a cold- (n = 22) or frozen-stored (n = 22) decellularized nerve allograft or an autograft (n = 22). Sprague-Dawley rats (300-350 g) served as full major histocompatibility complex-mismatched donors. Functional motor outcome was evaluated after 12 and 16 weeks. Ankle angle, compound muscle action potential (CMAP), isometric tetanic force, wet muscle weight, and histomorphometry were tested bilaterally. RESULTS: For CMAP and isometric tetanic force, no significant differences were observed between groups. In contrast, for ankle angle, histomorphometry and muscle weight, the cold-stored allograft performed comparable to the autograft, while the frozen-stored allograft performed significantly inferior to the autograft. At week 16, ankle angle was 88.0 ± 3.1% in the cold-stored group, 77.4 ± 3.6% in the frozen-stored group, and 74.1 ± 3.1% in the autograft group (P < .001); At week 16, the muscle weight showed a recovery up to 71.1 ± 4.8% in the autograft group, 67.0 ± 6.6% in the cold-stored group, and 64.7 ± 3.7% in the frozen-stored group (P < .05). CONCLUSIONS: A nerve allograft decellularized with elastase, if stored under the right conditions, results in comparable functional motor outcomes as the gold standard, the autograft.


Assuntos
Regeneração Tecidual Guiada/métodos , Regeneração Nervosa/fisiologia , Procedimentos Neurocirúrgicos/métodos , Traumatismos dos Nervos Periféricos/cirurgia , Nervo Isquiático/cirurgia , Aloenxertos , Animais , Modelos Animais de Doenças , Eletromiografia/métodos , Masculino , Elastase Pancreática , Distribuição Aleatória , Ratos , Ratos Endogâmicos Lew , Ratos Sprague-Dawley , Recuperação de Função Fisiológica , Valores de Referência , Nervo Isquiático/lesões
20.
Acta Orthop ; 89(1): 113-118, 2018 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-28946786

RESUMO

Background and purpose - Preaxial polydactyly of the foot is a rare malformation and clinicians are often unfamiliar with the associated malformations and syndromes. In order to give guidelines for diagnostics and referral to a clinical geneticist, we provide an overview of the presentation using a literature review and our own patient population. Patients and methods - The literature review was based on the Human Phenotype Ontology (HPO) project. From the HPO dataset, all phenotypes describing preaxial polydactyly were obtained and related diseases were identified and selected. An overview was generated in a heatmap, in which the phenotypic contribution of 12 anatomical groups to each disease is displayed. Clinical cases were obtained from our hospital database and were reviewed in terms of phenotype, genotype, heredity, and diagnosed syndromes. Results - From the HPO dataset, 21 diseases were related to preaxial polydactyly of the foot. The anatomical groups with the highest phenotypic contribution were lower limb, upper limb, and craniofacial. From our clinical database, we included 76 patients with 9 different diseases, of which 27 had a GLI3 mutation. Lower limb malformations (n = 55), upper limb malformations (n = 59), and craniofacial malformations (n = 32) were most frequently observed. Malformations in other anatomical groups were observed in 27 patients. Interpretation - Preaxial polydactyly of the foot often presents with other upper and lower limb malformations. In patients with isolated preaxial polydactyly of the foot, referral to a clinical geneticist is not mandatory. In patients with additional malformations, consultation with a clinical geneticist is recommended. When additional limb malformations are present, analysis of GLI3 is most feasible.


Assuntos
Deformidades Congênitas do Pé/patologia , Polidactilia/patologia , Feminino , , Deformidades Congênitas do Pé/genética , Deformidades Congênitas do Pé/cirurgia , Humanos , Masculino , Mutação/genética , Polidactilia/genética , Polidactilia/cirurgia
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