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OBJECTIVE: To evaluate progression of individual radiographic features 5 years following exercise therapy or arthroscopic partial meniscectomy as treatment for degenerative meniscal tear. DESIGN: Randomized controlled trial including 140 adults, aged 35-60 years, with a magnetic resonance image verified degenerative meniscal tear, and 96% without definite radiographic knee osteoarthritis. Participants were randomized to either 12-weeks of supervised exercise therapy or arthroscopic partial meniscectomy. The primary outcome was between-group difference in progression of tibiofemoral joint space narrowing and marginal osteophytes at 5 years, assessed semi-quantitatively by the OARSI atlas. Secondary outcomes included incidence of radiographic knee osteoarthritis and symptomatic knee osteoarthritis, medial tibiofemoral fixed joint space width (quantitatively assessed), and patient-reported outcome measures. Statistical analyses were performed using a full analysis set. Per protocol and as treated analysis were also performed. RESULTS: The risk ratios (95% CI) for progression of semi-quantitatively assessed joint space narrowing and medial and lateral osteophytes for the surgery group were 0.89 (0.55-1.44), 1.15 (0.79-1.68) and 0.77 (0.42-1.42), respectively, compared to the exercise therapy group. In secondary outcomes (full-set analysis) no statistically significant between-group differences were found. CONCLUSION: The study was inconclusive with respect to potential differences in progression of individual radiographic features after surgical and non-surgical treatment for degenerative meniscal tear. Further, we found no strong evidence in support of differences in development of incident radiographic knee osteoarthritis or patient-reported outcomes between exercise therapy and arthroscopic partial meniscectomy. TRIAL REGISTRATION: www.clinicaltrials.gov (NCT01002794).
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Terapia por Ejercicio/métodos , Meniscectomía/métodos , Osteoartritis de la Rodilla/epidemiología , Lesiones de Menisco Tibial/terapia , Adulto , Progresión de la Enfermedad , Femenino , Estudios de Seguimiento , Humanos , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Osteoartritis de la Rodilla/diagnóstico por imagen , Osteoartritis de la Rodilla/fisiopatología , Osteofito , Medición de Resultados Informados por el Paciente , Modalidades de Fisioterapia , Lesiones de Menisco Tibial/fisiopatologíaRESUMEN
PURPOSE: Children with spastic unilateral cerebral palsy (SUCP) frequently undergo lower limb surgery to improve gait. Postoperatively, ankle-foot orthoses (AFOs) are used to maintain the surgical corrections and provide adequate mechanical support. Our aim was to evaluate changes in gait and impacts of AFOs one-year postoperatively. METHODS: In all, 33 children with SUCP, 17 girls and 16 boys, mean age 9.2 years (5 to 16.5) were measured by 3D gait analysis walking barefoot preoperatively and walking barefoot and with AFOs one-year postoperatively. Changes in Gait Profile Scores (GPS), kinematic, kinetic and temporal spatial variables were examined using linear mixed models, with gender, gross motor function and AFO type as fixed effects. RESULTS: The results confirm significant gait improvements in the GPS, kinematics and kinetics walking barefoot one year after surgery. Comparing AFOs with barefoot walking postoperatively, there was additionally reduced ankle plantarflexion by an average of 5.1° and knee flexion by 4.7° at initial contact, enhanced ankle moments during loading response, increased velocity, longer steps and inhibited push-off power generation. Stance and swing phase dorsiflexion increased in children walking with hinged AFOs versus children walking with ground reaction AFOs. Changes in the non-affected limbs indicated less compensatory gait postoperatively. CONCLUSION: Major changes were found between pre- and postoperative barefoot conditions. The main impact of AFOs was correction of residual drop foot and improved prepositioning for initial contact, which could be considered as indications for continued use after the one-year follow-up. LEVEL OF EVIDENCE: Level II - Therapeutic.
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BACKGROUND: Low bone mineral density and an increased risk of appendicular and vertebral fractures are well-established consequences of Duchenne muscular dystrophy (DMD) and the risk of fractures is exacerbated by long-term glucocorticoid treatment. Monitoring of endocrine and skeletal health and timely intervention in at-risk patients is important in the management of children with DMD. METHODS: As part of the Norwegian Duchenne muscular dystrophy cohort study, we examined the skeletal maturation of 62 boys less than 18 years old, both currently glucocorticoid treated (n = 44), previously treated (n = 6) and naïve (n = 12). The relationship between bone age, height and bone mineral density (BMD) Z-scores was explored. RESULTS: The participants in the glucocorticoid treated group were short in stature and puberty was delayed. Bone age was significantly delayed, and the delay increased with age and duration of treatment. The difference in height between glucocorticoid treated and naïve boys was no longer significant when height was corrected for delayed skeletal maturation. Mean BMD Z-scores fell below - 2 before 12 years of age in the glucocorticoid treated group, with scores significantly correlated with age, duration of treatment and pubertal development. When BMD Z-scores were corrected for by retarded bone age, the increase in BMD Z-scores was significant for all age groups. CONCLUSION: Our results suggest that skeletal maturation should be assessed in the evaluation of short stature and bone health in GC treated boys with DMD, as failing to consider delayed bone age leads to underestimation of BMD Z-scores and potentially overestimation of fracture risk.
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We studied changes in cold hypersensitivity from 3 to 7 years following severe hand injuries. Data was collected using postal questionnaires 7 years after injury in 71 patients who had participated in a 3-year follow-up from the time of injury. There was no change in cold sensitivity measured using the McCabe Cold Sensitivity Severity scale (CSS) from 3 to 7 years after injury. However, there was a trend toward decreased severity measured using a five-level scale of self-reported cold hypersensitivity. Compared to the 3-year follow-up, fewer respondents rated their condition as severe and two patients had recovered from their cold hypersensitivity at the 7-year follow-up. Furthermore, 21 (30%) of the respondents stated a decrease in cold hypersensitivity during the last 2 years. Limitations in cold associated activities and the importance of being less limited in leisure activities (NRS 0-10) did not change between the two follow-ups. In conclusion, the CSS-scores did not change from 3 to 7 years after injury. Several patients experienced improvements in cold hypersensitivity, but few recovered completely from the condition.
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Síndromes Periódicos Asociados a Criopirina/etiología , Traumatismos de la Mano/complicaciones , Recuperación de la Función , Índice de Severidad de la Enfermedad , Femenino , Estudios de Seguimiento , Humanos , Masculino , Persona de Mediana Edad , Estudios ProspectivosRESUMEN
PURPOSE: The primary aim was to examine if there were differences in physical function and health-related quality of life (HRQoL) between young adults (18 to 35 years) with unilateral congenital lower-limb deficiency (CLLD) who had been surgically lengthened (Surg) and those using lengthening prostheses (Pros). Second, we wanted to compare their health status with an age- and gender-matched reference group (Ref) without CLLD. METHODS: Cross-sectional study including a study-specific questionnaire, clinical examination, two field tests evaluating physical function (the six-minute walk test and the Stair test) and HRQoL questionnaires (Short Form (SF)-36 and EuroQol (EQ)-5D-3L). RESULTS: Physical function and HRQoL did not differ between the two treatment groups. The odds for having painful or disfiguring scars were 18 times higher in the Surg group (n = 16) compared with the Pros group (n = 14). The CLLD group showed significantly reduced physical function compared with the Ref group. HRQoL, measured by the EQ-5D-3L visual rating scale, was significantly reduced in the CLLD group compared with the Ref group, as was the SF-36 physical function domain in both genders. Men with CLLD also showed increased bodily pain and reduced general health (SF-36), while we found a reduction in the emotional role domain in women compared with Ref. CONCLUSION: There were no significant differences in physical function and quality of life in young adults with CLLD treated with surgical lengthening compared with those using lengthening prostheses. Compared with the general Norwegian population, young adults with CLLD had significantly lower physical function and reduced HRQoL in some domains.
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OBJECTIVE: To prospectively evaluate the relationship between the presence or persistence of anterior knee pain (AKP) during the first 2-years following anterior cruciate ligament reconstruction (ACLR) and patellofemoral osteoarthritis (PFOA) at 15- and 20-years. DESIGN: This study was ancillary to a long-term prospective cohort study of 221 participants following bone-patellar-tendon-bone ACLR. AKP was assessed at 1- and 2-years post-ACLR using part of the Cincinnati knee score with an additional pain location question (persistence defined as presence at both follow-ups). Radiographic PFOA (definite patellofemoral osteophyte) and symptomatic PFOA (patellofemoral osteophyte, with knee pain during past 4 weeks) was assessed at 15- and 20-years follow-up. We used generalized linear models with Poisson regression to assess the relationship between AKP and PFOA. RESULTS: Of the 181 participants (82%) who were assessed at 15-years post-ACLR (age 39 ± 9 years; 42% female), 36 (24%) and 33 (22%) had AKP at 1- and 2-years, respectively, while 14 (8%) reported persistent AKP. Radiographic and symptomatic PFOA was observed at 15-years in 130 (72%) and 70 (39%) participants, respectively, and at 20-years in 115 (80%) and 60 (42%) participants, respectively. Neither the presence nor persistence of AKP at 1- and/or 2-years post-ACLR was associated with significantly higher risk of radiographic or symptomatic PFOA at 15- or 20-years (risk ratios <2.1). CONCLUSIONS: Although AKP and PFOA were prevalent, AKP does not appear to be associated with long-term PFOA following ACLR.
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Reconstrucción del Ligamento Cruzado Anterior/efectos adversos , Artralgia/etiología , Osteoartritis de la Rodilla/etiología , Adulto , Femenino , Estudios de Seguimiento , Humanos , Articulación de la Rodilla/diagnóstico por imagen , Masculino , Osteoartritis de la Rodilla/diagnóstico por imagen , Radiografía , Factores de RiesgoRESUMEN
Genetic variation can affect drug response in multiple ways, although it remains unclear how rare genetic variants affect drug response. The electronic Medical Records and Genomics (eMERGE) Network, collaborating with the Pharmacogenomics Research Network, began eMERGE-PGx, a targeted sequencing study to assess genetic variation in 82 pharmacogenes critical for implementation of "precision medicine." The February 2015 eMERGE-PGx data release includes sequence-derived data from â¼5,000 clinical subjects. We present the variant frequency spectrum categorized by variant type, ancestry, and predicted function. We found 95.12% of genes have variants with a scaled Combined Annotation-Dependent Depletion score above 20, and 96.19% of all samples had one or more Clinical Pharmacogenetics Implementation Consortium Level A actionable variants. These data highlight the distribution and scope of genetic variation in relevant pharmacogenes, identifying challenges associated with implementing clinical sequencing for drug treatment at a broader level, underscoring the importance for multifaceted research in the execution of precision medicine.
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Bases de Datos Genéticas , Variación Genética , Genómica , Farmacogenética , Anciano , Registros Electrónicos de Salud , Femenino , Humanos , Masculino , Persona de Mediana Edad , Medicina de Precisión/métodosRESUMEN
BACKGROUND: The natural course and predictors for decreased cold hypersensitivity were studied in 85 patients with severe hand injuries involving nerve lesions. METHODS: Questionnaires including the McCabe Cold Sensitivity Severity scale (CSS 0-400) were collected after injury, and at 6-month, 12-month, 2-year, and 3-year follow-ups. RESULTS: Between the 12-month and 3-year follow-up, there was a small decrease in cold hypersensitivity as measured by the CSS (median = 24; Q1-Q3 = -11-75; n = 85). Five of the patients recovered from cold hypersensitivity, and â¼ 40% of the patients were less affected by cold hypersensitivity in daily life. Little or no pain early after injury and higher CSS-scores 12 months after primary surgery were weakly associated with the reduced CSS-scores (R(2) = 0.20) at the 3-year follow-up. Six patients had changed work or did not work due to cold hypersensitivity, but the majority of the patients had kept their cold-exposed work. CONCLUSION: Cold-hypersensitive patients may have a reasonable chance for decreased cold sensitivity and cold-associated activity limitations over time, although the majority of the patients will experience persistent problems. Tools to predict improvement remain insufficient.
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Síndromes Periódicos Asociados a Criopirina/fisiopatología , Traumatismos de la Mano/complicaciones , Actividades Cotidianas , Estudios de Cohortes , Femenino , Estudios de Seguimiento , Humanos , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Factores de TiempoRESUMEN
STUDY DESIGN: Case series. INTRODUCTION: A home treatment program using a classical conditioning procedure to decrease cold hypersensitivity has potential to reduce symptoms. PURPOSE: To evaluate a home treatment program for cold hypersensitivity using a classical conditioning procedure in patients who are cold hypersensitive after hand and arm injuries. METHODS: A series of 22 patients followed a classical conditioning procedure consisting of exposing the body to cold outdoor temperatures and immersing the hands in warm water, every other day, for five weeks. The McCabe Cold Sensitivity Severity scale (CSS) was used to measure cold hypersensitivity twice before treatment, at four weeks, and at one year after treatment; Likert scales was used for the patients ratings of improvements. A cold stress test was performed to evaluate rewarming capacity in injured fingers. RESULTS: From the 20 patients, who returned questionnaires at all assessment points, 9 reported a small and three reported a moderate improvement in cold hypersensitivity after treatment. There was a trend toward improvement in the CSS (median 36; interquartile range--19 to 60) and in the rewarming pattern of fingers that were initially slow to rewarm. The improvements were sustained or increased at one-year follow-up. CONCLUSION: These preliminary results suggest that the classical conditioning procedure to treat cold hypersensitivity has potential and should be further explored in a trial with more rigorous design.
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Traumatismos del Brazo/complicaciones , Condicionamiento Clásico , Síndromes Periódicos Asociados a Criopirina/terapia , Traumatismos de la Mano/complicaciones , Adulto , Frío , Síndromes Periódicos Asociados a Criopirina/etiología , Femenino , Estudios de Seguimiento , Humanos , Inmersión , Masculino , Recalentamiento , Encuestas y CuestionariosRESUMEN
OBJECTIVE: To evaluate any change in self-reported level of physical activity in patients receiving a general physical exercise programme in addition to disease-specific physiotherapy treatment. DESIGN: Pre-post-intervention study. SETTING: Outpatient physiotherapy clinics. PARTICIPANTS: One hundred and ninety patients with long-term musculoskeletal conditions attending outpatient physiotherapy were recruited from seven physiotherapy clinics. INTERVENTIONS: Physiotherapy including disease-specific modalities and a general individually tailored exercise programme. Patients were evaluated at baseline and at the end of the programme. MAIN OUTCOME MEASURES: International Physical Activity Questionnaire short form (IPAQ-sf) and COOP WONCA functional assessment charts. RESULTS: Forty-two patients were excluded from the analysis because they did not complete the IPAQ-sf correctly or dropped out during the treatment period. There was a significant increase in the number of metabolic equivalent task (MET)-min/week for vigorous and moderate-intensity activities, walking and total physical activity. The number of exercise sessions per week increased from 1.8 [standard deviation (SD) 0.9] to 2.2 (SD 1.2) (P=0.001). The proportion of patients with a low level of physical activity decreased by 12%, and the proportion of the participants who did not/could not exercise decreased from 26% to 8%. The COOP WONCA charts showed significant improvements in the physical fitness, feelings, daily activities and social activities items. CONCLUSION: A significant increase was found in the number of MET-min/week for all activity levels. Therefore, a general physical exercise programme initiated by a physiotherapist led to a positive change in level of physical activity.
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Terapia por Ejercicio/métodos , Estado de Salud , Enfermedades Musculoesqueléticas/rehabilitación , Aptitud Física , Actividades Cotidianas , Adulto , Anciano , Índice de Masa Corporal , Enfermedad Crónica , Femenino , Humanos , Masculino , Equivalente Metabólico , Persona de Mediana Edad , Calidad de Vida , Autoinforme , CaminataRESUMEN
We describe here the design and initial implementation of the eMERGE-PGx project. eMERGE-PGx, a partnership of the Electronic Medical Records and Genomics Network and the Pharmacogenomics Research Network, has three objectives: (i) to deploy PGRNseq, a next-generation sequencing platform assessing sequence variation in 84 proposed pharmacogenes, in nearly 9,000 patients likely to be prescribed drugs of interest in a 1- to 3-year time frame across several clinical sites; (ii) to integrate well-established clinically validated pharmacogenetic genotypes into the electronic health record with associated clinical decision support and to assess process and clinical outcomes of implementation; and (iii) to develop a repository of pharmacogenetic variants of unknown significance linked to a repository of electronic health record-based clinical phenotype data for ongoing pharmacogenomics discovery. We describe site-specific project implementation and anticipated products, including genetic variant and phenotype data repositories, novel variant association studies, clinical decision support modules, clinical and process outcomes, approaches to managing incidental findings, and patient and clinician education methods.
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Bases de Datos Genéticas , Registros Electrónicos de Salud/organización & administración , Variación Genética , Adolescente , Anciano , Niño , Quimioterapia , Femenino , Estudios de Asociación Genética , Genotipo , Humanos , Bases del Conocimiento , Masculino , Persona de Mediana Edad , Farmacogenética , Fenotipo , Proyectos Piloto , Análisis de Secuencia de ADN , Adulto JovenRESUMEN
BACKGROUND: The aim of this study was to ascertain parental preferences for the return of genetic research results on themselves and their children and their choices for genetic research results to receive. METHODS: A mail survey was sent to 6,874 families seen at Boston Children's Hospital. The survey included questions assessing the respondents' preferences regarding the types of result they wanted to receive on themselves and their children. RESULTS: Most of the 1,060 respondents 'probably' or 'definitely' wanted to receive genetic research results about themselves (84.6%) and their children (88.0%). Among those who wanted to receive results, 83.4% wanted to receive all research results for themselves and 87.8% for their children. When questions about specific types of research results were combined into a composite measure, fewer respondents chose to receive all results for themselves (53.5%) and for their children (56.9%). CONCLUSION: Although most parents report a desire to receive all research results on a general question, almost half chose to receive only a subset of research results when presented with specific types of research results. Our findings suggest that participants might not understand the implications of their choice of individual research results to receive unless faced with specific types of results.
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Comprensión , Investigación Genética , Pruebas Genéticas , Genómica , Educación en Salud/métodos , Padres/psicología , Adulto , Boston , Niño , Recolección de Datos , Femenino , Genoma Humano/genética , Hospitales Pediátricos , Humanos , Masculino , Persona de Mediana Edad , Motivación , Adulto JovenRESUMEN
OBJECTIVES: To compare physical activity and physical fitness in patients with various musculoskeletal conditions receiving physiotherapy in primary care with population controls. DESIGN: Cross-sectional. PARTICIPANTS: One hundred and sixty-seven patients with musculoskeletal conditions receiving physiotherapy in primary care and 313 population controls from various settings and geographical areas. MAIN OUTCOME MEASURES: Physical activity was measured with the International Physical Activity Questionnaire short-form (IPAQ-sf) and reported in metabolic equivalents (METs). The 6-minute walk test and 30-second sit-to-stand test reflected cardiorespiratory endurance and muscular strength, respectively. RESULTS: Differences in physical activity between the groups were explored using the Mann-Whitney U-test. The patient group reported significantly less vigorous activity compared with the control group {median 0 [interquartile range (IQR) 0 to 960] vs median 240 [IQR 0 to 1440] MET minutes/week, respectively)} (P=0.001). A similar proportion of patients (68%) and controls (75%) reached the recommended level of health-enhancing physical activity (P=0.11). Linear regression analyses adjusted for age, body mass index and gender showed significantly poorer fitness in the patient group compared with the control group, reflected by the 6-minute walk test and the 30-second sit-to-stand test {mean difference 69m [95% confidence interval (CI) 52 to 85; P≤0.001] and six repetitions [95% CI 5 to 7; P≤0.001], respectively}. CONCLUSIONS: Patients with various long-term musculoskeletal conditions receiving physiotherapy in primary care had significantly poorer physical fitness and reported less vigorous physical activity compared with population controls.
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Prueba de Esfuerzo/métodos , Actividad Motora/fisiología , Enfermedades Musculoesqueléticas/diagnóstico , Enfermedades Musculoesqueléticas/rehabilitación , Aptitud Física/fisiología , Adulto , Factores de Edad , Anciano , Estudios Transversales , Femenino , Estudios de Seguimiento , Humanos , Modelos Lineales , Masculino , Persona de Mediana Edad , Análisis Multivariante , Fuerza Muscular/fisiología , Noruega , Valores de Referencia , Medición de Riesgo , Índice de Severidad de la Enfermedad , Factores Sexuales , Estadísticas no Paramétricas , Encuestas y Cuestionarios , Adulto JovenRESUMEN
Autism spectrum disorder (ASD) is one of the most prevalent neurodevelopmental disorders with high heritability, yet a majority of genetic contribution to pathophysiology is not known. Siblings of individuals with ASD are at increased risk for ASD and autistic traits, but the genetic contribution for simplex families is estimated to be less when compared to multiplex families. To explore the genomic (dis-) similarity between proband and unaffected sibling in simplex families, we used genome-wide gene expression profiles of blood from 20 proband-unaffected sibling pairs and 18 unrelated control individuals. The global gene expression profiles of unaffected siblings were more similar to those from probands as they shared genetic and environmental background. A total of 189 genes were significantly differentially expressed between proband-sib pairs (nominal p < 0.01) after controlling for age, sex, and family effects. Probands and siblings were distinguished into two groups by cluster analysis with these genes. Overall, unaffected siblings were equally distant from the centroid of probands and from that of unrelated controls with the differentially expressed genes. Interestingly, five of 20 siblings had gene expression profiles that were more similar to unrelated controls than to their matched probands. In summary, we found a set of genes that distinguished probands from the unaffected siblings, and a subgroup of unaffected siblings who were more similar to probands. The pathways that characterized probands compared to siblings using peripheral blood gene expression profiles were the up-regulation of ribosomal, spliceosomal, and mitochondrial pathways, and the down-regulation of neuroreceptor-ligand, immune response and calcium signaling pathways. Further integrative study with structural genetic variations such as de novo mutations, rare variants, and copy number variations would clarify whether these transcriptomic changes are structural or environmental in origin.
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Trastorno Autístico/genética , Variaciones en el Número de Copia de ADN/genética , Predisposición Genética a la Enfermedad/genética , Transcriptoma/genética , Adolescente , Niño , Preescolar , Análisis por Conglomerados , Regulación hacia Abajo , Femenino , Pruebas Genéticas/métodos , Humanos , Masculino , Fenotipo , Hermanos , Regulación hacia ArribaRESUMEN
Heart transplant (HTx) recipients usually have reduced exercise capacity with reported VO(2peak) levels of 50-70% predicted value. Our hypothesis was that high-intensity interval training (HIIT) is an applicable and safe form of exercise in HTx recipients and that it would markedly improve VO(2peak.) Secondarily, we wanted to evaluate central and peripheral mechanisms behind a potential VO(2peak) increase. Forty-eight clinically stable HTx recipients >18 years old and 1-8 years after HTx underwent maximal exercise testing on a treadmill and were randomized to either exercise group (a 1-year HIIT-program) or control group (usual care). The mean ± SD age was 51 ± 16 years, 71% were male and time from HTx was 4.1 ± 2.2 years. The mean VO(2peak) difference between groups at follow-up was 3.6 [2.0, 5.2] mL/kg/min (p < 0.001). The exercise group had 89.0 ± 17.5% of predicted VO(2peak) versus 82.5 ± 20.0 in the control group (p < 0.001). There were no changes in cardiac function measured by echocardiography. We have demonstrated that a long-term, partly supervised and community-based HIIT-program is an applicable, effective and safe way to improve VO(2peak) , muscular exercise capacity and general health in HTx recipients. The results indicate that HIIT should be more frequently used among stable HTx recipients in the future.
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Prueba de Esfuerzo/métodos , Tolerancia al Ejercicio/fisiología , Trasplante de Corazón/rehabilitación , Consumo de Oxígeno/fisiología , Calidad de Vida , Adulto , Anciano , Estudios de Casos y Controles , Femenino , Insuficiencia Cardíaca/cirugía , Frecuencia Cardíaca/fisiología , Trasplante de Corazón/métodos , Humanos , Masculino , Persona de Mediana Edad , Noruega , Cooperación del Paciente/estadística & datos numéricos , Educación y Entrenamiento Físico/métodos , Estudios Prospectivos , Valores de Referencia , Estadísticas no ParamétricasRESUMEN
CHMP2B mutations are a rare cause of autosomal dominant frontotemporal dementia (FTD). The best studied example is frontotemporal dementia linked to chromosome 3 (FTD-3) which occurs in a large Danish family, with a further CHMP2B mutation identified in an unrelated Belgian familial FTD patient. These mutations lead to C-terminal truncations of the CHMP2B protein and we will review recent advances in our understanding of the molecular effects of these mutant truncated proteins on vesicular fusion events within the endosome-lysosome and autophagy degradation pathways. We will also review the clinical features of FTD caused by CHMP2B truncation mutations as well as new brain imaging and neuropathological findings. Finally, we collate the current data on CHMP2B missense mutations, which have been reported in FTD and motor neuron disease.
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Complejos de Clasificación Endosomal Requeridos para el Transporte/genética , Demencia Frontotemporal/genética , Mutación , Secuencia de Aminoácidos , Demencia Frontotemporal/patología , Humanos , Datos de Secuencia MolecularRESUMEN
BACKGROUND: There are conflicting results in the literature regarding the association between radiographic knee osteoarthritis (OA) and symptoms and function in subjects with previous anterior cruciate ligament (ACL) reconstruction. AIM: To investigate the associations between radiographic tibiofemoral knee OA and knee pain, symptoms, function and knee-related quality of life (QOL) 10-15 years after ACL reconstruction. STUDY DESIGN: Cross-sectional study. MATERIAL AND METHODS: 258 subjects were consecutively included at the time of ACL reconstruction and followed up prospectively. The authors included the Knee Injury and Osteoarthritis Outcome Score to evaluate knee pain, other symptoms (symptoms), activities of daily living and sport and recreation (Sport/Rec) and QOL. The subjects underwent standing radiographs 10-15 years after the ACL reconstruction. The radiographs were graded with the Kellgren and Lawrence (K&L) classification (grade 0-4). RESULTS: 210 subjects (81%) consented to participate in the 10-15-year follow-up. Radiographic knee OA (K&L ≥ grade 2) was detected in 71%, and 24% showed moderate or severe radiographic knee OA (K&L grades 3 and 4). No significant associations were detected between radiographic knee OA (K&L grade ≥ 2) and pain, function or QOL, respectively, but subjects with radiographic knee OA showed significantly increased symptoms. Severe radiographic knee OA (K&L grade 4) was significantly associated with more pain, symptoms, impaired Sport/Rec and reduced QOL. CONCLUSION: Subjects with radiographic knee OA showed significantly more symptoms than those without OA, and subjects with severe radiographic knee OA had significantly more pain, impaired function and reduced quality of life than those without radiographic knee OA 10-15 years after ACL reconstruction.
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Lesiones del Ligamento Cruzado Anterior , Reconstrucción del Ligamento Cruzado Anterior , Artralgia/etiología , Traumatismos en Atletas/complicaciones , Traumatismos de la Rodilla/complicaciones , Osteoartritis de la Rodilla/diagnóstico por imagen , Actividades Cotidianas , Adolescente , Adulto , Traumatismos en Atletas/fisiopatología , Traumatismos en Atletas/cirugía , Estudios Transversales , Femenino , Estudios de Seguimiento , Humanos , Traumatismos de la Rodilla/fisiopatología , Traumatismos de la Rodilla/cirugía , Masculino , Persona de Mediana Edad , Osteoartritis de la Rodilla/etiología , Osteoartritis de la Rodilla/fisiopatología , Calidad de Vida , Radiografía , Lesiones de Menisco Tibial , Adulto JovenRESUMEN
OBJECTIVE: The purpose of this study was to identify changes in clinical outcome and lower extremity biomechanics during walking and hopping in ACL-injured subjects before and after a 20-session neuromuscular and strength training programme. STUDY DESIGN: Pre and post experimental design. SETTING: Outpatient clinic, primary care. PATIENTS: 32 subjects with unilateral ACL injury, mean 60 (SD 35) days after injury, with a mean age of 26.2 (5.4) years. INTERVENTION: The rehabilitation programme consisted of neuromuscular and strength exercises. MAIN OUTCOME MEASUREMENTS: Outcome measurements assessed before and after a 20-session rehabilitation programme were: self-assessment questionnaires (KOS-ADL, IKDC2000, Global function), four single-leg hop tests, and isokinetic muscle strength tests. Lower extremity kinematics and kinetics were captured during the stance phase of gait and landing after a single leg hop, synchronised with three force plates. RESULTS: These ACL-injured individuals significantly improved their clinical outcome after rehabilitation. Gait analysis disclosed a significantly improved knee extension moment after rehabilitation, but no change in hip or knee excursions. During landing after hop no change in knee excursion or knee moment was recorded. CONCLUSION: After rehabilitation the ACL-injured subjects showed a significantly improved clinical outcome, but lower extremity biomechanics were still significantly impaired during both walking and hopping. The rehabilitation programme influenced knee joint loading during walking, but not during hopping. Longer rehabilitation should be considered before ACL-injured individuals return to jumping activities.
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Lesiones del Ligamento Cruzado Anterior , Traumatismos de la Rodilla/rehabilitación , Articulación de la Rodilla/fisiopatología , Entrenamiento de Fuerza/métodos , Caminata/fisiología , Adolescente , Adulto , Ligamento Cruzado Anterior/fisiopatología , Fenómenos Biomecánicos , Femenino , Marcha/fisiología , Humanos , Traumatismos de la Rodilla/fisiopatología , Masculino , Fuerza Muscular/fisiología , Resultado del Tratamiento , Soporte de Peso/fisiología , Adulto JovenRESUMEN
OBJECTIVE: To identify preoperative predictive factors for knee function two years after reconstructive surgery of the anterior cruciate ligament (ACL). The main hypothesis was that preoperative quadriceps strength would be the most significant predictor for knee function two years after reconstructive surgery. DESIGN: Cohort study. SETTING: ACL injured individuals treated at a University Hospital and an outpatient clinic in Oslo, Norway. PARTICIPANTS: Seventy-three individuals with complete unilateral rupture of the ACL scheduled for reconstruction with a bone-patellar-bone autograft were included in the study, from where 60 were available for two-year follow up and included in the final analyses. INTERVENTIONS: Not applicable. MAIN OUTCOME MEASUREMENTS: Identification of baseline independent variables that may predict knee function assessed with the Cincinnati Knee Score as dependent variable two years after ACL reconstruction. RESULTS: Quadriceps muscle strength, meniscus injury and the Short-Form-36 Bodily Pain sub score were identified as significant predictors for knee function assessed from the Cincinnati Knee Score two years after ACL reconstruction. Individuals with preoperative quadriceps strength deficits above 20% also had persistent significantly larger strength deficits two years after surgery. CONCLUSIONS: Preoperative quadriceps muscle strength deficits and meniscus injuries have significant negative consequences for the long-term functional outcome after ACL reconstruction. From our findings we suggest that ACL reconstruction should not be performed before quadriceps muscle strength deficits of the injured limb is less than 20% of the uninjured limb.
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Lesiones del Ligamento Cruzado Anterior , Plastía con Hueso-Tendón Rotuliano-Hueso , Fuerza Muscular/fisiología , Músculo Cuádriceps/fisiología , Adolescente , Adulto , Ligamento Cruzado Anterior/cirugía , Femenino , Humanos , Inestabilidad de la Articulación/etiología , Inestabilidad de la Articulación/fisiopatología , Traumatismos de la Rodilla/fisiopatología , Traumatismos de la Rodilla/rehabilitación , Traumatismos de la Rodilla/cirugía , Masculino , Cuidados Preoperatorios , Rotura/cirugía , Lesiones de Menisco Tibial , Trasplante Autólogo , Adulto JovenRESUMEN
We investigated cold hypersensitivity and activity in 81 adults (male/female 76/5), 6 to 10 years after finger replantation/revascularisation (mean age at injury 43 (SD 15) years). Questionnaires included the McCabe Cold Sensitivity Severity Scale, Potential Work-Exposure Scale and the Disabilities of the Arm, Shoulder and Hand (DASH) score. Eighty per cent of the respondents were cold hypersensitive; 20% were severely or extremely cold hypersensitive. Of the 74 patients employed at injury, 7% had changed work and 4% were not working due to cold hypersensitivity. The median score for cold exposure at work at follow-up was 153 (scale 0-300). The correlation between cold sensitivity and DASH work was low. One-third of the respondents experienced limitations in their leisure activities because of cold complaints. Long-term cold sensitivity was mild or moderate for most patients. Many cold hypersensitive patients managed to continue to work even under cold conditions and cold hypersensitivity was a greater problem in leisure activities.