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PURPOSE: Thoracic outlet syndrome (TOS) is a ductal syndrome that can have a significant functional impact. Various studies have highlighted positional factors and repetitive movements as risk factors for the development of TOS. However, there are few literature data on the socioprofessional consequences of TOS. METHODS: We performed a prospective, cross-sectional, descriptive, multicentre study of workers having received a Doppler ultrasound diagnosis of TOS between December 17th, 2018, and March 16th, 2021. Immediately after their diagnosis, patients completed a self-questionnaire on the impact of TOS on their work activities. We assessed the frequency of TOS-related difficulties at work and the associated socioprofessional consequences. Trial Registration Number (TRN) is NCT03780647 and date of registration December 18, 2018. RESULTS: Eighty-two participants (95.3%) reported difficulties at work. Seventy-seven of the participants with difficulties (94%) worked in the tertiary sector; these difficulties were due to prolonged maintenance of a posture, carrying loads, and repetitive movements. Although the majority of participants experienced organizational problems and lacked support at work, few of them had approached support organizations, expert and/or healthcare professionals. CONCLUSIONS: TOS was almost always associated with difficulties at work (95.3%). However, poor awareness of sources of help or a perceived lack of need may discourage people with TOS from taking steps to resolve these difficulties. It is clear that the socioprofessional management of TOS requires significant improvements.
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Síndrome del Desfiladero Torácico , Humanos , Estudios Transversales , Estudios Prospectivos , Síndrome del Desfiladero Torácico/diagnóstico por imagen , Angiografía , Personal de SaludRESUMEN
BACKGROUND: While modular reconstruction implants can be used to replace the bone lost after bone tumor resection, tumor excision from the neighboring soft tissues can lead to loss of strength and joint range of motion (ROM), which results in worse knee function. Functional recovery after total knee arthroplasty for osteoarthritis has been extensively documented. But few studies have evaluated the recovery after total knee reconstruction following tumor excision despite the fact that most of these patients are young and have high functional demands. We did a prospective cross-sectional study to: 1) compare muscle strength recovery around the knee with an isokinetic dynamometer after tumor excision and reconstruction with a modular implant to the healthy contralateral knee; 2) determine if the differences in peak torque (PT) in the knee extensors and flexors had a clinical impact. HYPOTHESIS: Resection of soft tissues during tumor excision around the knee causes strength loss that cannot be fully recovered. METHODS: The 36 patients who underwent extra- or intra-articular resection of a primary or secondary bone tumor in the knee area followed by reconstruction with a rotating hinge knee system between 2009 and 2021 were eligible for this study. The primary outcome was the ability to actively lock the operated knee. The secondary outcomes were the concentric PT during isokinetic testing at slow (90°/sec) and fast (180°/sec) speeds, flexion-extension ROM, Musculoskeletal Tumor Society (MSTS) score, the IKS, Oxford Knee Score (OKS) and KOOS. RESULTS: Nine patients agreed to participate in the study, all of whom had regained the ability to lock their knee postoperatively. PT in flexion and extension on the operated knee was less than the healthy knee. The PT ratio for the operated/healthy knee at 60°/sec and 180°/sec in flexion was 56.3%±16.2 [23.2-80.1] and 57.8%±12.3 [37.7-77.4], respectively, which corresponded to a slow-speed strength deficit of 43.7% in the knee flexors. The PT ratio for the operated/healthy knee at 60°/sec and 180°/sec in extension was 34.3%±24.6 [8.6-76.5] and 43%±27.2 [13.1-93.4], respectively, which corresponded to a slow-speed strength deficit of 65.7% in the knee extensors. The mean MSTS was 70%±20 [63-86]. The OKS was 29.9/48±11 [15-45], the mean IKS knee was 149.6±36 [80-178] and the mean KOOS was 67.43±18.5 [35-88.7]. DISCUSSION: Despite all patients having the ability to lock out their knee, there was an imbalance in the strength between opposite muscle groups: 43.7% strength deficit at slow-speed and 42.2% at fast speed for the hamstring muscles, and 65.7% at slow-speed and 57% at fast speed for the quadriceps muscles. This difference is considered pathological with an increased risk of knee injury. Despite this strength deficit, this joint replacement technique, which is free of complications, can preserve good knee function with acceptable knee joint ROM and satisfactory quality of life. LEVEL OF EVIDENCE: III; prospective cross-sectional case-control study.
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Neoplasias Óseas , Pierna , Humanos , Estudios Transversales , Estudios de Casos y Controles , Estudios de Seguimiento , Estudios Prospectivos , Calidad de Vida , Articulación de la Rodilla/cirugía , Articulación de la Rodilla/fisiología , Fuerza Muscular/fisiología , Neoplasias Óseas/cirugía , Rango del Movimiento ArticularRESUMEN
BACKGROUND: Facioscapulohumeral muscular dystrophy (FSHD) is among the most prevalent muscular dystrophies and currently has no treatment. Clinical and genetic heterogeneity are the main challenges to a full comprehension of the physiopathological mechanism. Improving our knowledge of FSHD is crucial to the development of future therapeutic trials and standards of care. National FSHD registries have been set up to this end. The French National Registry of FSHD combines a clinical evaluation form (CEF) and a self-report questionnaire (SRQ), filled out by a physician with expertise in neuromuscular dystrophies and by the patient, respectively. Aside from favoring recruitment, our strategy was devised to improve data quality. Indeed, the pairwise comparison of data from 281 patients for 39 items allowed for evaluating data accuracy. Kappa or intra-class coefficient (ICC) values were calculated to determine the correlation between answers provided in both the CEF and SRQ. RESULTS: Patients and physicians agreed on a majority of questions common to the SRQ and CEF (24 out of 39). Demographic, diagnosis- and care-related questions were generally answered consistently by the patient and the medical practitioner (kappa or ICC values of most items in these groups were greater than 0.8). Muscle function-related items, i.e. FSHD-specific signs, showed an overall medium to poor correlation between data provided in the two forms; the distribution of agreements in this section was markedly spread out and ranged from poor to good. In particular, there was very little agreement regarding the assessment of facial motricity and the presence of a winged scapula. However, patients and physicians agreed very well on the Vignos and Brooke scores. The report of symptoms not specific to FSHD showed general poor consistency. CONCLUSIONS: Patient and physician answers are largely concordant when addressing quantitative and objective items. Consequently, we updated collection forms by relying more on patient-reported data where appropriate. We hope the revised forms will reduce data collection time while ensuring the same quality standard. With the advent of artificial intelligence and automated decision-making, high-quality and reliable data are critical to develop top-performing algorithms to improve diagnosis, care, and evaluate the efficiency of upcoming treatments.
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Distrofia Muscular Facioescapulohumeral , Médicos , Inteligencia Artificial , Humanos , Distrofia Muscular Facioescapulohumeral/diagnóstico , Medición de Resultados Informados por el Paciente , Sistema de RegistrosRESUMEN
BACKGROUND: The carriage of carbapenemase-producing Enterobacteriaceae (CPE) might lengthen the time to functional recovery (TTFR) for inpatients in post-acute care (PAC) units. OBJECTIVE: We aimed to assess the impact of CPE carriage on TTFR in a PAC facility. METHODS: This 2-year retrospective cohort study included 20 CPE-positive patients and 54 CPE-negative patients admitted to 3 PAC units (general, orthopaedic and neurological rehabilitation units) in a teaching hospital from January 2017 to December 2019. Potential risk factors and demographic data were collected from patients' medical records, the French national hospital discharge database, and the hospital's CPE surveillance database. Functional recovery was defined as the median difference in functional independence measure (FIM) between admission and discharge from each unit. Survival analysis and multiple Cox regression models were used to predict the TTFR and identify factors associated with functional recovery. RESULTS: The overall median [interquartile range] TTFR was 50 days [36-66]. Longer median TTFR was associated with CPE carriage (63 vs 47 days in the CPE-negative group; adjusted hazard ratio (aHR) 0.35, 95% CI 0.13-0.97) and presence of a peripheral venous catheter (aHR 3.51, 1.45-8.46); shorter TTFR was associated with admission to an orthopaedic versus general rehabilitation unit (aHR 3.11, 1.24-7.82). CONCLUSIONS: CPE carriage in inpatient PAC facilities was associated with long TTFR. Further studies are needed to explore the mechanisms involved in these adverse events and to identify possible preventive measures.
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Enterobacteriaceae Resistentes a los Carbapenémicos , Infecciones por Enterobacteriaceae , Proteínas Bacterianas , Enterobacteriaceae , Humanos , Pacientes Internos , Estudios Retrospectivos , Atención Subaguda , beta-LactamasasAsunto(s)
Artritis Reumatoide , COVID-19 , Control de Enfermedades Transmisibles , Ejercicio Físico , Humanos , Calidad de Vida , SARS-CoV-2RESUMEN
AIMS: To estimate the effect of prophylactic angiotensin-converting enzyme inhibitors (ACEi) on survival in Duchenne muscular dystrophy (DMD). METHODS AND RESULTS: We analysed the data from the French multicentre DMD Heart Registry (ClinicalTrials.gov: NCT03443115). We estimated the association between the prophylactic prescription of ACEi and event-free survival in 668 patients aged 8 to 13 years, with normal left ventricular function, using (i) a Cox model with intervention as a time-dependent covariate, (ii) a propensity-based analysis comparing ACEi treatment vs. no treatment, and (iii) a set of sensitivity analyses. The study outcomes were overall survival and hospitalizations for heart failure (HF) or acute respiratory failure. Among the 668 patients included in the DMD Heart Registry, 576 (mean age 6.1 ± 2.8 years) were eligible for this study, of whom 390 were treated with ACEi prophylactically. Death occurred in 53 patients (13.5%) who were and 60 patients (32.3%) who were not treated prophylactically with ACEi, respectively. In a Cox model with intervention as a time-dependent variable, the hazard ratio (HR) associated with ACEi treatment was 0.49 [95% confidence interval (CI) 0.34-0.72] and 0.47 (95% CI 0.31-0.17) for overall mortality after adjustment for baseline variables. In the propensity-based analysis, 278 patients were included in the treatment group and 834 in the control group, with 18.5% and 30.4% 12-year estimated probability of death, respectively. ACEi were associated with a lower risk of death (HR 0.39; 95% CI 0.17-0.92) and hospitalization for HF (HR 0.16; 95% CI 0.04-0.62). All other sensitivity analyses yielded similar results. CONCLUSION: Prophylactic ACEi treatment in DMD was associated with a significantly higher overall survival and lower rates of hospitalization for HF.
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Insuficiencia Cardíaca , Distrofia Muscular de Duchenne , Antagonistas de Receptores de Angiotensina/uso terapéutico , Inhibidores de la Enzima Convertidora de Angiotensina/uso terapéutico , Niño , Preescolar , Insuficiencia Cardíaca/tratamiento farmacológico , Insuficiencia Cardíaca/prevención & control , Humanos , Distrofia Muscular de Duchenne/tratamiento farmacológico , Sistema de Registros , Resultado del Tratamiento , Función Ventricular IzquierdaRESUMEN
Low back pain is a common, expensive, and disabling condition in industrialized countries. There is still no consensus for its ideal management. Believing in the beneficial effect of traction, we developed a novel external dynamic distraction device. The purpose of this work was to demonstrate that external distraction allows limiting the pressure exerted in standing-up position on the lower intervertebral discs. Numerical and cadaveric studies were used as complementary approaches. Firstly, we implemented the device into a numerical model of a validated musculoskeletal software (Anybody Modeling System) and we calculated the lower disc pressure while traction forces were applied. Secondly, we performed an anatomical study using a non-formalin preserved cadaver placed in a sitting position. A pressure sensor was placed in the lower discs under fluoroscopic control through a Jamshidi needle. The intradiscal pressure was then measured continuously at rest while applying a traction force of 200 N. Both numerical and cadaveric studies demonstrated a decrease in intradiscal pressures after applying a traction force with the external device. Using the numerical model, we showed that tensile forces below 500 N in total were sufficient. The application of higher forces seems useless and potentially deleterious. External dynamic distraction device is able to significantly decrease the intradiscal pressure in a sitting or standing position. However, the therapeutic effects need to be proven using clinical studies.
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Disco Intervertebral , Dolor de la Región Lumbar , Humanos , Vértebras Lumbares , PresiónAsunto(s)
Toxinas Botulínicas Tipo A/administración & dosificación , Personas con Discapacidad/rehabilitación , Fármacos Neuromusculares/administración & dosificación , Calidad de Vida , Sialorrea/tratamiento farmacológico , Adulto , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Glándulas Salivales , Resultado del TratamientoAsunto(s)
Monitoreo Fisiológico/métodos , Terapias en Investigación/métodos , Sistemas de Registro de Reacción Adversa a Medicamentos , Monitoreo de Drogas/métodos , Monitoreo de Drogas/normas , Efectos Colaterales y Reacciones Adversas Relacionados con Medicamentos/diagnóstico , Efectos Colaterales y Reacciones Adversas Relacionados con Medicamentos/terapia , Estudios de Seguimiento , Enfermedad del Almacenamiento de Glucógeno Tipo II/tratamiento farmacológico , Enfermedad del Almacenamiento de Glucógeno Tipo II/fisiopatología , Humanos , Locomoción/efectos de los fármacos , Monitoreo Fisiológico/normas , Enfermedades Neuromusculares/tratamiento farmacológico , Enfermedades Neuromusculares/fisiopatología , Sistema de Registros , Proyectos de Investigación/normas , Respiración , Pruebas de Función Respiratoria , Terapias en Investigación/normas , Resultado del Tratamiento , alfa-Glucosidasas/uso terapéuticoRESUMEN
BACKGROUND: Subtelomeres are variable regions between telomeres and chromosomal-specific regions. One of the most studied pathologies linked to subtelomeric imbalance is facioscapulohumeral dystrophy (FSHD). In most cases, this disease involves shortening of an array of D4Z4 macrosatellite elements at the 4q35 locus. The disease also segregates with a specific A-type haplotype containing a degenerated polyadenylation signal distal to the last repeat followed by a repetitive array of ß-satellite elements. This classification applies to most patients with FSHD. A subset of patients called FSHD2 escapes this definition and carries a mutation in the SMCHD1 gene. We also recently described patients carrying a complex rearrangement consisting of a cis-duplication of the distal 4q35 locus identified by molecular combing. METHODS: Using this high-resolution technology, we further investigated the organisation of the 4q35 region linked to the disease and the 10q26 locus presenting with 98% of homology in controls and patients. RESULTS: Our analyses reveal a broad variability in size of the different elements composing these loci highlighting the complexity of these subtelomeres and the difficulty for genomic assembly. Out of the 1029 DNA samples analysed in our centre in the last 7 years, we also identified 54 cases clinically diagnosed with FSHD carrying complex genotypes. This includes mosaic patients, patients with deletions of the proximal 4q region and 23 cases with an atypical chromosome 10 pattern, infrequently found in the control population and never reported before. CONCLUSION: Overall, this work underlines the complexity of these loci challenging the diagnosis and genetic counselling for this disease.
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Cromosomas Humanos Par 10 , Cromosomas Humanos Par 4 , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Distrofia Muscular Facioescapulohumeral/diagnóstico , Distrofia Muscular Facioescapulohumeral/genética , Telómero/genética , Alelos , Deleción Cromosómica , Estudios de Asociación Genética/métodos , Sitios Genéticos , Genotipo , Humanos , LinajeRESUMEN
BACKGROUND: Myotonic dystrophy (DM1), a neuromuscular disease related to DMPK gene mutations, is associated to endocrine disorders and cancer. A routine endocrine work-up, including thyroid ultrasound (US), was conducted in 115 genetically-proven DM1 patients in a neuromuscular reference center. The aim of this study was to determine the prevalence and the causes of US thyroid abnormalities in DM1. RESULTS: In the whole population (age 45.1 ± 12.2 years, 61.7% female), palpable nodules or goiters were present in 29.2%. The percentage of US goiter (thyroid volume > 18 mL) and US nodules were, respectively, 38.3 and 60.9%. Sixteen of the 115 patients had a thyroidectomy, after 22 fine-needle aspiration cytology guided by thyroid imaging reporting and data system (TIRADS) classification. Six micro- (1/6 pT3) and 3 macro-papillary thyroid carcinoma (PTCs) (2/3 intermediate risk) were diagnosed (7.9% of 115). Thyroid US led to the diagnosis of 4 multifocal and 2 unifocal (including 1 macro-PTC) non-palpable PTCs. Ultrasound thyroid volume was positively correlated to body mass index (BMI) (p = 0.015) and parity (p = 0.036), and was inversely correlated to TSH (p < 0.001) and vitamin D levels (p = 0.023). The BMI, the frequencies of glucose intolerance and PTC were significantly higher in UsGoiter versus non-UsGoiter groups. CONCLUSION: In this systematically screened DM1 cohort, the frequency of UsGoiter, mainly associated to BMI, was about 40%, US nodules 60%, thyroidectomies 13-14%, and PTCs 8%, two-thirds of them being micro-PTCs with good prognosis. Therefore, a systematic screening remains debatable. A targeted US screening in case of clinical abnormality or high BMI seems more appropriate.
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Resistencia a la Insulina/fisiología , Distrofia Miotónica/diagnóstico , Distrofia Miotónica/etiología , Glándula Tiroides/patología , Neoplasias de la Tiroides/diagnóstico , Adulto , Femenino , Bocio/diagnóstico , Bocio/etiología , Bocio/genética , Humanos , Resistencia a la Insulina/genética , Masculino , Persona de Mediana Edad , Distrofia Miotónica/genética , Cáncer Papilar Tiroideo/diagnóstico , Cáncer Papilar Tiroideo/etiología , Cáncer Papilar Tiroideo/genética , Neoplasias de la Tiroides/etiología , Neoplasias de la Tiroides/genéticaRESUMEN
BACKGROUND: To estimate patient acceptable symptom state (PASS) and minimal clinically important difference (MCID) for patient-reported outcomes in systemic sclerosis (SSc). METHODS: We conducted a secondary analysis of the SCLEREDUC trial, a 12-month randomized controlled trial comparing the efficacy of physical therapy to usual care in 220 SSc patients followed-up from September 2005 to October 2010. Self-rated state and change in patient health at 12 months were assessed by using 2 external anchors extracted from the Medical Outcomes Study 36-Item Short-Form. Patients who self-rated their health as "excellent", "very good" or "good" were the PASS group and those who self-rated their health change as "somewhat better" were the MCID group. Main outcomes were the estimates of PASS by using the 75th percentile method and of MCID by using the mean change in scores method for pain and activity limitation. RESULTS: PASS (95% confidence interval) and mean (SD) MCID estimates at 12 months were 53.75 (34.00 to 68.00) and -6.74 (32.02) for the joint-pain visual analog scale (range 0-100), 1.41 (1.13 to 1.63) and -0.21 (0.48) for the Health Assessment Questionnaire (HAQ, range 0-3), 1.27 (1.07 to 1.62) and -0.13 (0.45) for the scleroderma HAQ (range 0-3), 26.00 (17.00 to 37.00) and -3.38 (9.87) for the Cochin Hand Function Scale (range 0-90), and 19.40 (17.20 to 21.90) and -5.69 (6.79) for the McMaster-Toronto Arthritis Patient Preference Disability Questionnaire (range 0-30), respectively. CONCLUSIONS: We provide, for the first time, the PASS and MCID estimates for pain and activity limitation in SSc. TRIAL REGISTRATION: ClinicalTrials.gov Identifier: NCT00318188. First Posted: April 26, 2006.
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Modalidades de Fisioterapia , Esclerodermia Sistémica/terapia , Adulto , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Diferencia Mínima Clínicamente Importante , Medición de Resultados Informados por el Paciente , Satisfacción del Paciente , Esclerodermia Sistémica/tratamiento farmacológicoAsunto(s)
Autoanticuerpos/metabolismo , Enfermedades Autoinmunes/diagnóstico , Hidroximetilglutaril-CoA Reductasas/inmunología , Enfermedades Musculares/diagnóstico , Enfermedades Musculares/inmunología , Enfermedades Autoinmunes/genética , Enfermedades Autoinmunes/patología , Enfermedades Autoinmunes/rehabilitación , Diagnóstico Tardío , Diagnóstico Diferencial , Progresión de la Enfermedad , Femenino , Humanos , Músculo Esquelético/inmunología , Músculo Esquelético/patología , Enfermedades Musculares/patología , Enfermedades Musculares/rehabilitación , Adulto JovenRESUMEN
INTRODUCTION: Slowly progressive, genetic neuromuscular diseases (gNMDs) often lead to important motor deficiencies and functional limitations. The Quality of Life in Genetic Neuromuscular Disease Questionnaire (QoL-gNMD) is a new health-related quality-of-life questionnaire developed for these patients. The purpose of the present study was to validate the French version of the QoL-gNMD and to calibrate its measurement system. METHODS: Both the QoL-gNMD and a validated generic questionnaire (WHOQOL-BREF) were administered to patients. Validation was performed using item response theory. The partial credit model (Rasch) was used to calibrate each domain. RESULTS: Three hundred fifteen adult patients were included. All 3 domains showed adequate psychometric properties (internal consistency: person separation index >0.77; repeatability: test-retest intraclass correlation coefficient >0.75, scalability coefficient >0.38) and fitted the partial credit model. The QoL-gNMD also demonstrated adequate concurrent validity with the WHOQOL-BREF. DISCUSSION: The QoL-gNMD showed adequate psychometric properties and can be used in clinical settings. Although not anchor-based, the minimum detectable change tables help in interpreting score change. Muscle Nerve 56: 1085-1091, 2017.
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Enfermedades Neuromusculares/diagnóstico , Enfermedades Neuromusculares/psicología , Calidad de Vida/psicología , Encuestas y Cuestionarios/normas , Actividades Cotidianas/psicología , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Francia , Humanos , Masculino , Persona de Mediana Edad , Enfermedades Neuromusculares/epidemiología , Adulto JovenRESUMEN
PURPOSE: A qualitative work is conducted to enable later the construction of a health-related quality of life (HRQL) questionnaire for patients with slowly-progressive neuromuscular disease (NMD) such as myopathies and muscular dystrophies. METHODS: The formation of focus groups is an efficient method to perform an in-depth exploration of the aspects of HRQL potentially impaired by NMD. Patients were recruited in France by 4 NMD reference centers. To ensure adequate representativeness in terms of severity, three types of focus groups were formed: (1) Patients able to walk (WP). (2) Patients using a wheelchair (WCP). (3) Patients using a wheelchair and requiring continuous mechanical ventilation (WCMVP). All verbal interactions among group participants were recorded. A qualitative analysis of the verbatim was performed using the framework of the International Classification of Functioning, Disability and Health model (ICF). RESULTS: A total of 41 patients distributed across five focus groups were interviewed. The verbatim provided 2424 ICF categories. The percentages of mentions of the different ICF categories were calculated and graphically displayed. CONCLUSION: The results enabled to identify and quantify the aspects of life that are altered by NMD according to patients. This qualitative work was the first phase of a more ambitious project to develop a new NMD-specific HRQL questionnaire. Implication of rehabilitation Patients with NMD have more to say about the quality of their environment, their social relationships and their psychological state than about their physical symptoms. This observation should be compared to clinician perceptions which often focus mainly on the physical symptoms, overlooking those elements that they cannot assess directly. Many patients reported relationship issues with various people from their surrounding (e.g., health professionals, acquaintances, colleagues, and strangers). In particular, it is essential that health professionals are careful not to make adult patients with NMD feel infantilized. This issue can be addressed by making all relevant medical information available and asking for the patient's opinion on any important change in their medical care.
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Personas con Discapacidad/rehabilitación , Enfermedades Neuromusculares/rehabilitación , Medición de Resultados Informados por el Paciente , Calidad de Vida , Adulto , Progresión de la Enfermedad , Femenino , Grupos Focales , Francia , Humanos , Clasificación Internacional del Funcionamiento, de la Discapacidad y de la Salud , Masculino , Persona de Mediana Edad , Relaciones Médico-Paciente , Investigación Cualitativa , Respiración Artificial , Encuestas y Cuestionarios , Silla de RuedasRESUMEN
OBJECTIVE: To evaluate the medium-term functional effect and the effect on quality of life of a standardized rehabilitation program in patients with inflammatory myopathies (IMs). DESIGN: A multicenter, randomized controlled trial. SETTING: Four university hospitals. PARTICIPANTS: Patients (N=21) with polymyositis. INTERVENTIONS: The intervention group participated in a 4-week standardized, hospital-based rehabilitation program followed by a personalized, self-managed, home-based rehabilitation program. The control group received physiotherapy on an outpatient basis. Study participants were evaluated at inclusion, at the end of the rehabilitation program (1mo), and then at 6 and 12 months. MAIN OUTCOME MEASURES: The primary efficacy criterion was the Health Assessment Questionnaire Disability Index (HAQ-DI), and the secondary criteria were quality of life (according to the Medical Outcomes Study 36-Item Short-Form Health Survey [SF-36] questionnaire), muscle performance (isokinetic strength, Motor Function Measure, and Kendall Manual Muscle Test), gait, pain, fatigue, and biomarkers of tolerance and disease activity. RESULTS: At 12 months, the mean ± SD HAQ-DI was significantly lower in the intervention group than in the control group (.64±.53 vs 1.36±1.02; P=.026). The intervention group also had better scores than the control group for some quality-of-life dimensions (SF-36 General Health: 53.44±8.73 vs 36.57±22.10, respectively; P=.038; SF-36 Role Physical: 63.89±43.50 vs 17.86±37.40, respectively; P=.023) and pain levels (5.0±10.61 vs 33.38±35.68, respectively; P=.04) at 12 months. The program was well tolerated by all the participants. CONCLUSIONS: In patients with IMs, the combination of a 4-week standardized rehabilitation program and a personalized, home-based, self-managed rehabilitation program was well tolerated and had a positive medium-term functional effect.
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Evaluación de la Discapacidad , Miositis/rehabilitación , Dolor/rehabilitación , Modalidades de Fisioterapia , Calidad de Vida , Adulto , Biomarcadores , Capacidad Cardiovascular/fisiología , Terapia por Ejercicio , Femenino , Estado de Salud , Hospitales Universitarios , Humanos , Masculino , Persona de Mediana Edad , Músculo Esquelético/fisiología , Rango del Movimiento ArticularRESUMEN
OBJECTIVE: To compare a physical therapy program to usual care of systemic sclerosis (SSc) patients on disability. METHODS: A 12-month followup, parallel-group randomized controlled trial involving a modified Zelen design was conducted in 4 tertiary-care hospitals. Patients were enrolled if they had a disability rating ≥0.5 on the Health Assessment Questionnaire disability index (HAQ DI) or symptoms of decreased mouth opening or limited range of motion of at least 1 joint. The experimental intervention (n = 112, of which 110 were analyzed) was a 1-month personalized supervised physical therapy program provided by trained care providers followed by home sessions. The comparator (n = 108, and all 108 were analyzed) was usual care that could include ambulatory physical therapy. The primary outcome was the HAQ DI score. RESULTS: There was no statistically significant difference in disability at 12 months (HAQ DI score between-group difference -0.01 [95% confidence interval (95% CI) -0.15, 0.13]; P = 0.86). Disability was reduced at 1 month for patients in the physical therapy group (HAQ DI between-group difference -0.14 [95% CI -0.24, -0.03]; P = 0.01); at 6 months the HAQ DI score between-group difference was -0.12 (95% CI -0.23, 0.01); P = 0.054. There was a statistically significant difference for hand mobility and function, and for pain, at 1 month. Microstomia was lower in the physical therapy group at 1, 6, and 12 months (between-group difference at 12 months 1.62 [95% CI 0.32, 2.93]; P = 0.01). No differences in adverse effects were observed. CONCLUSION: A personalized physical therapy program did not reduce disability at 12 months but had short-term benefits for patients with SSc.
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Servicios de Atención de Salud a Domicilio/normas , Modalidades de Fisioterapia/normas , Medicina de Precisión/normas , Esclerodermia Sistémica/diagnóstico , Esclerodermia Sistémica/terapia , Adulto , Anciano , Femenino , Estudios de Seguimiento , Humanos , Masculino , Persona de Mediana Edad , Atención al Paciente/métodos , Atención al Paciente/normas , Medicina de Precisión/métodosRESUMEN
BACKGROUND: Dystrophinopathies are mostly caused by copy number variations, especially deletions, in the dystrophin gene (DMD). Despite the large size of the gene, deletions do not occur randomly but mainly in two hot spots, the main one involving exons 45 to 55. The underlying mechanisms are complex and implicate two main mechanisms: Non-homologous end joining (NHEJ) and micro-homology mediated replication-dependent recombination (MMRDR). OBJECTIVE: Our goals were to assess the distribution of intronic breakpoints (BPs) in the genomic sequence of the main hot spot of deletions within DMD gene and to search for specific sequences at or near to BPs that might promote BP occurrence or be associated with DNA break repair. METHODS: Using comparative genomic hybridization microarray, 57 deletions within the intron 44 to 55 region were mapped. Moreover, 21 junction fragments were sequenced to search for specific sequences. RESULTS: Non-randomly distributed BPs were found in introns 44, 47, 48, 49 and 53 and 50% of BPs clustered within genomic regions of less than 700bp. Repeated elements (REs), known to promote gene rearrangement via several mechanisms, were present in the vicinity of 90% of clustered BPs and less frequently (72%) close to scattered BPs, illustrating the important role of such elements in the occurrence of DMD deletions. Palindromic and TTTAAA sequences, which also promote DNA instability, were identified at fragment junctions in 20% and 5% of cases, respectively. Micro-homologies (76%) and insertions or deletions of small sequences were frequently found at BP junctions. CONCLUSIONS: Our results illustrate, in a large series of patients, the important role of RE and other genomic features in DNA breaks, and the involvement of different mechanisms in DMD gene deletions: Mainly replication error repair mechanisms, but also NHEJ and potentially aberrant firing of replication origins. A combination of these mechanisms may also be possible.