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American Journal of Medical Genetics.... Jul 2023Angelman Syndrome is a rare neurodevelopmental disorder characterized by developmental delay, lack of speech, seizures, intellectual disability, characteristic behavior,...
Angelman Syndrome is a rare neurodevelopmental disorder characterized by developmental delay, lack of speech, seizures, intellectual disability, characteristic behavior, and movement disorders. Clinical gait analysis provides the opportunity for movement quantification to investigate an observed maladaptive change in gait pattern and offers an objective outcome of change. Pressure-sensor-based technology, inertial and activity monitoring, and instrumented gait analysis (IGA) were employed to define motor abnormalities in Angelman syndrome. Temporal-spatial gait parameters of persons with Angelman Syndrome (pwAS) show deficiencies in gait performance through walking speed, step length, step width, and walk ratio. pwAS walk with reduced step lengths, increased step width, and greater variability. Three-dimensional motion kinematics showed increased anterior pelvic tilt, hip flexion, and knee flexion. PwAS have a walk ratio more than two standard deviations below controls. Dynamic electromyography showed prolonged activation of knee extensors, which was associated with a decreased range of motion and the presence of hip flexion contractures. Use of multiple gait tracking modalities revealed that pwAS exhibit a change in gait pattern to a flexed knee gait pattern. Cross-sectional studies of individuals with AS show a regression toward this maladaptive gait pattern over development in pwAS ages 4-11. PwAS unexpectedly did not have spasticity associated with change in gait pattern. Multiple quantitative measures of motor patterning may offer early biomarkers of gait decline consistent with critical periods of intervention, insight into appropriate management strategies, objective primary outcomes, and early indicators of adverse events.
Topics: Humans; Angelman Syndrome; Cross-Sectional Studies; Walking; Gait; Knee Joint; Biomechanical Phenomena
PubMed: 37019838
DOI: 10.1002/ajmg.a.63192 -
International Heart Journal Jan 2019Emery-Dreifuss muscular dystrophy (EDMD) is a group of hereditary muscular dystrophy syndrome caused by deficiency of genes encoding nuclear envelope proteins. Patients... (Review)
Review
Emery-Dreifuss muscular dystrophy (EDMD) is a group of hereditary muscular dystrophy syndrome caused by deficiency of genes encoding nuclear envelope proteins. Patients having EDMD show the triad of muscle dystrophy, joint contracture, and cardiac disease. In almost all patients, cardiac involvement is prevalent and is the most severe aspect of EDMD. Cardiac disease is predominantly shown by conduction defects, atrial fibrillation/flutter, and atrial standstill. Sudden death and heart failure because of left ventricular dysfunction are important causes of mortality, particularly in those patients that have the LMNA mutation. Medical treatment of EDMD is limited to addressing symptoms and ambulation support; moreover, pacemaker implantation is necessary when there are severe conduction defects and bradycardia occurs. Note that automated defibrillation devices may be considered for those patients who have a high risk of sudden death, rate, or rhythm control. Also, anticoagulation should be initiated in those patients who have atrial fibrillation/flutter. Thus, for optimal management, a multidisciplinary approach is required.
Topics: Abnormalities, Multiple; Anticoagulants; Atrial Fibrillation; Cardiomyopathies; Cleft Palate; Contracture; Death, Sudden; Female; Genetic Diseases, Inborn; Heart Atria; Heart Block; Heart Diseases; Humans; Hydrocephalus; Interdisciplinary Communication; Limb Deformities, Congenital; Male; Muscular Dystrophies; Muscular Dystrophy, Emery-Dreifuss; Pacemaker, Artificial; Ventricular Dysfunction, Left
PubMed: 30518714
DOI: 10.1536/ihj.17-604 -
Journal of ISAKOS : Joint Disorders &... Feb 2024Stiff elbow is a complex condition whose diagnosis and management are sometimes quite a challenge. Compared to the other joints, the elbow is disproportionately affected...
Stiff elbow is a complex condition whose diagnosis and management are sometimes quite a challenge. Compared to the other joints, the elbow is disproportionately affected by loss of motion following trauma or surgery. It is unclear why the elbow tends to develop stiffness; its anatomical complexity, namely the presence of three highly congruent joints in the same capsule and synovial space, the tautness of the lateral and medial collateral ligaments through the whole range of motion, and the very close relationship among tendons, muscles, and skin 2 may account for this characteristic. In a stiff elbow, it is critical to assess the possible involvement of articular and periarticular tissues, particularly the degree of preservation of the articular surfaces and joint congruency. Morrey et al have classified post-traumatic stiff elbow into three types: 1) extrinsic contracture, which involves the soft tissue around the joint (capsule, ligaments, muscles) and heterotopic ossification across the joint, 2) intrinsic contracture, secondary to intra-articular fractures that have altered the anatomy of the articular surface, and 3) mixed contracture, combining intrinsic and extrinsic contracture. In the preoperative clinical assessment, we assume capsule contracture to be present in all patients with a stiff elbow. Two main associated lesions can affect prognosis and surgical management: heterotopic ossification and an altered bone joint anatomy. According to Morrey et al, most activities of daily living can be accomplished within an arc of motion from 30° to 130° in extension and flexion and of 50° in pronation and supination. The elbow arc of motion is not compensated for by the wrist and shoulder, thus loss of extension impairs the use of the hand in the space around the body and loss of flexion limits its use for grooming and self-care. The elbow should carefully be tested for deformity of the axial bone alignment (varus and valgus deformity) and rotational stability. Several treatment options are available for stiff elbow, from conservative management with a dedicated rehabilitation program to surgical treatment and from arthroscopic capsulectomy to joint replacement.
Topics: Animals; Humans; Elbow; Activities of Daily Living; Retrospective Studies; Contracture; Ossification, Heterotopic
PubMed: 37696358
DOI: 10.1016/j.jisako.2023.09.002 -
British Medical Bulletin Jun 2016In the last few years, the use of collagenase clostridium histolyticum for management of Dupuytren's contracture has increased. The procedure of enzymatic fasciectomy... (Review)
Review
INTRODUCTION
In the last few years, the use of collagenase clostridium histolyticum for management of Dupuytren's contracture has increased. The procedure of enzymatic fasciectomy has become popular because it is non-invasive, safe and fast to perform.
SOURCES OF DATA
A systematic search was performed on Medline (PubMed), Web of Science and Scopus databases using the combined keywords 'Dupuytren collagenase' and 'Dupuytren clostridium histolyticum'. Forty-three studies were identified. The quality of the studies was assessed using the Coleman Methodological Score.
AREAS OF AGREEMENT
The use of collagenase clostridium histolyticum provides better outcomes in patients with mild-moderate joint contracture, with lower complications and side effects than open fasciectomy. Manipulation can be performed 2-7 days after the injection. The use of collagenase is cost-effective.
AREAS OF CONTROVERSY
Most of the studies did not report patient-related outcomes. The role of dynamic splint has to be investigated with randomized clinical trials.
GROWING POINTS
The shorter recovery time and the low incidence of serious or major adverse effects are the main advantages of this new technology.
AREAS TIMELY FOR DEVELOPING RESEARCH
There is a need to perform studies with longer follow-up because the recurrence rate seems to increase with time. Further investigations are necessary to assess whether it is safe and effective to inject two or more cords at the same time.
Topics: Clostridium histolyticum; Cost-Benefit Analysis; Dupuytren Contracture; Fasciotomy; Humans; Injections, Intralesional; Microbial Collagenase; Range of Motion, Articular; Treatment Outcome
PubMed: 27151958
DOI: 10.1093/bmb/ldw020 -
BMC Geriatrics Feb 2016Joint contractures are a common health problem in older persons with significant impact on activities of daily living. We aimed to retrieve outcome measures applied in... (Review)
Review
Outcome measures in older persons with acquired joint contractures: a systematic review and content analysis using the ICF (International Classification of Functioning, Disability and Health) as a reference.
BACKGROUND
Joint contractures are a common health problem in older persons with significant impact on activities of daily living. We aimed to retrieve outcome measures applied in studies on older persons with joint contractures and to identify and categorise the concepts contained in these outcome measures using the ICF (International Classification of Functioning, Disability and Health) as a reference.
METHODS
Electronic searches of Medline, EMBASE, CINAHL, Pedro and the Cochrane Library were conducted (1/2002-8/2012). We included studies in the geriatric rehabilitation and nursing home settings with participants aged ≥ 65 years and with acquired joint contractures. Two independent reviewers extracted the outcome measures and transferred them to concepts using predefined conceptual frameworks. Concepts were subsequently linked to the ICF categories.
RESULTS
From the 1057 abstracts retrieved, 60 studies met the inclusion criteria. We identified 52 single outcome measures and 24 standardised assessment instruments. A total of 1353 concepts were revealed from the outcome measures; 96.2% could be linked to 50 ICF categories in the 2nd level; 3.8% were not categorised. Fourteen of the 50 categories (28%) belonged to the component Body Functions, 4 (8%) to the component Body Structures, 26 (52%) to the component Activities and Participation, and 6 (12%) to the component Environmental Factors.
CONCLUSIONS
The ICF is a valuable reference for identifying and quantifying the concepts of outcome measures on joint contractures in older people. The revealed ICF categories remain to be validated in populations with joint contractures in terms of clinical relevance and personal impact.
Topics: Activities of Daily Living; Aged; Aged, 80 and over; Arthritis; Contracture; Disability Evaluation; Disabled Persons; Female; Humans; International Classification of Functioning, Disability and Health; Male; Outcome Assessment, Health Care
PubMed: 26860991
DOI: 10.1186/s12877-016-0213-6 -
Orthopaedics & Traumatology, Surgery &... Feb 2019Idiopathic pes planus is common and usually physiologic. Decompensation, when it occurs, may be obvious or on the contrary difficult to identify, raising challenges in... (Review)
Review
Idiopathic pes planus is common and usually physiologic. Decompensation, when it occurs, may be obvious or on the contrary difficult to identify, raising challenges in patient selection for surgical treatment. The physical examination of a child with pes planus must include an evaluation in the supine position, which helps to adjust the amount of correction during surgery. The many reported surgical procedures include repositioning (talus-reseating, subtalar implants and calcaneo-stop screw), osteotomies and joint fusions. The primary treatment goal is to achieve full architectural correction of the deformity. Selection of the procedure depends on patient age and reducibility of the deformity. The joint lines should be preserved whenever possible. Triceps surae contracture should be sought and corrected if found.
Topics: Arthrodesis; Child; Flatfoot; Humans; Joint Prosthesis; Osteotomy; Patient Selection; Physical Examination; Postoperative Care; Preoperative Care; Radiography; Subtalar Joint; Tarsal Bones
PubMed: 29709656
DOI: 10.1016/j.otsr.2018.03.010 -
The Journal of Bone and Joint Surgery.... Feb 2023Simple elbow dislocation occurs at an incidence of 2.9 to 5.21 dislocations per 100,000 person-years, with as many as 62% of these patients experiencing long-term elbow...
BACKGROUND
Simple elbow dislocation occurs at an incidence of 2.9 to 5.21 dislocations per 100,000 person-years, with as many as 62% of these patients experiencing long-term elbow joint contracture, stiffness, and/or pain. Poor outcomes and the need for secondary surgical intervention can often be prevented nonoperatively with early or immediate active mobilization and physical therapy. However, immobilization or limited mobilization may be necessary following trauma, and it is unknown how different periods of immobilization affect pathological changes in elbow joint tissue and how these changes relate to range of motion (ROM). The purpose of this study was to investigate the effects of varying the initiation of free mobilization on elbow ROM and histological features in an animal model of elbow posttraumatic joint contracture.
METHODS
Traumatic elbow dislocation was surgically induced unilaterally in rats. Injured forelimbs were immobilized in bandages for 3, 7, 14, or 21 days; free mobilization was then allowed until 42 days after injury. Post-mortem joint ROM testing and histological analysis were performed. One-way analysis of variance was used to compare ROM data between control and injured groups, and Pearson correlations were performed between ROM parameters and histological outcomes.
RESULTS
Longer immobilization periods resulted in greater ROM reductions. The anterior and posterior capsule showed increases in cellularity, fibroblasts, adhesions, fibrosis, and thickness, whereas the measured outcomes in cartilage were mostly unaffected. All measured histological characteristics of the capsule were negatively correlated with ROM, indicating that higher degrees of pathology corresponded with less ROM.
CONCLUSIONS
Longer immobilization periods resulted in greater ROM reductions, which correlated with worse histological outcomes in the capsule in an animal model of posttraumatic elbow contracture. The subtle differences in the timing of ROM and capsule tissue changes revealed in the present study provide new insight into the distinct timelines of biomechanical changes as well as regional tissue pathology.
CLINICAL RELEVANCE
This study showed that beginning active mobilization 3 days after injury minimized posttraumatic joint contracture, thereby supporting an immediate-motion clinical treatment strategy (when possible). Furthermore, uninjured but pathologically altered periarticular tissues near the injury location may contribute to more severe contracture during longer immobilization periods as the disease state progresses.
Topics: Rats; Animals; Elbow; Joint Dislocations; Contracture; Elbow Joint; Physical Therapy Modalities; Range of Motion, Articular
PubMed: 36723466
DOI: 10.2106/JBJS.22.00064 -
Hand (New York, N.Y.) Sep 2022This systematic review investigates complications and recurrence of Dupuytren's contracture in metacarpophalangeal joints (MCPJs) and/or proximal interphalangeal joints...
This systematic review investigates complications and recurrence of Dupuytren's contracture in metacarpophalangeal joints (MCPJs) and/or proximal interphalangeal joints (PIPJs) of fingers treated with collagenase clostridium histolyticum (CCH). A review of the literature on Dupuytren's disease was performed using PRISMA guidelines. Included publications described complications and/or recurrences for contractures ≥20° in MCPJs and/or PIPJs treated with CCH. Successful treatments reduced contractures to ≤5° immediately. Treatment-related adverse events (AEs) were classified as minor, major surgical, and major nonsurgical. Contracture recurrence involved return of fixed-flexion contracture ≥20° in a successfully treated finger in patients with ≥12 months of follow-up. Of 2675 patients (3753 joints), 94% experienced ≥1 treatment-related AE, most commonly peripheral edema (64%), pain in extremity (53%), and contusion (51%). Major surgical complications occurred in 9 patients (1.0%). Major nonsurgical complications occurred in 2 patients, specifically nonrupture tendon injury and anaphylaxis. Of 1488 patients (2069 joints), recurrences were reported in 23% of successfully treated joints (n = 466; 20% MCPJs, 28% PIPJs), on average 12 to 24 months after treatment. MCPJs achieved greater success than PIPJs in initial contracture reduction (77% versus 36%). CCH is a safe, effective treatment to improve hand function in Dupuytren's contracture. Most AEs are minor and self-resolving, although the risk of major AEs still exists. Following treatment, 23% of successfully treated joints experience recurrence, typically within 12 to 24 months but sometimes as early as 6 months. Surgeons are encouraged to discuss these risks with patients for shared decision-making regarding optimal treatment modalities.
Topics: Collagenases; Dupuytren Contracture; Humans; Injections, Intralesional; Microbial Collagenase; Recurrence
PubMed: 33478271
DOI: 10.1177/1558944720974119 -
Journal of Orthopaedic Research :... Aug 2021Coronal hip contracture induces pelvic obliquity in the presence of hip osteoarthritis (HOA), followed by the functional leg-length discrepancy. To promote accurate...
Coronal hip contracture induces pelvic obliquity in the presence of hip osteoarthritis (HOA), followed by the functional leg-length discrepancy. To promote accurate diagnosis of contracture and proper management of soft tissue release in total hip arthroplasty (THA), this study aimed to clarify the morphological features on plain radiographs that are related to contracture in patients with HOA. Two hundred forty-three hips of 231 patients with HOA who underwent primary THA were included in this study. Preoperative pelvic radiographs of the bilateral hips in maximum adduction and abduction were used to quantify contracture. Patients were grouped according to their contracture as having abduction contracture, adduction contracture, or minimal contracture. We investigated HOA, subluxation, anatomical factors, spinal factors, and the morphology of osteophytes at the inferomedial femoral head and compared parameters among groups to clarify the predictors of contracture. Eighteen hips (7.6%) were classified as having adduction contracture and 23 (9.4%) as having abduction contracture. Crowe classification, leg-length discrepancy, and osteophyte morphology showed significant correlations with adduction contracture. Factors significantly correlated with abduction contracture were offset difference, pelvic obliquity, functional femoral anteversion, and osteophyte morphology. Multivariate logistic regression analysis showed that the factor most strongly related to adduction contracture was Crowe III classification, whereas the strongest predictor of abduction contracture was osteophyte morphology. In conclusion, hip subluxation was related to the adduction contracture of the hip, whereas osteophyte morphology was related to abduction contracture.
Topics: Arthroplasty, Replacement, Hip; Contracture; Hip; Hip Dislocation, Congenital; Humans; Joint Dislocations; Leg Length Inequality; Osteoarthritis, Hip; Osteophyte; Retrospective Studies
PubMed: 33095496
DOI: 10.1002/jor.24891 -
Journal of Plastic, Reconstructive &... May 2022Multiple studies have reported the effectiveness of treatment on contracture reduction in Dupuytren's disease. However, very few studies have attempted to quantify to...
Multiple studies have reported the effectiveness of treatment on contracture reduction in Dupuytren's disease. However, very few studies have attempted to quantify to which extent patient and disease characteristics influence the chance of achieving a straight finger after surgery. Therefore, the aim of this study is to explore to which extent pre-operative patient and disease characteristics can reliably predict a straight finger after surgery for Dupuytren's disease. In total, 812 and 281 patients, who underwent a limited fasciectomy or needle fasciotomy, respectively, were included in the final analyses. Analysis was performed using a logistic modeling framework. For both treatments, the combination of the extension deficit at baseline; which finger is most affected, which joint is most affected, and the number of affected fingers provided reliable predictions. Classical patient characteristics, such as age and sex, had no additional predictive value. The models presented in this study provide reliable predictions and could be helpful in informing patients and managing their expectations.
Topics: Dupuytren Contracture; Fasciotomy; Finger Joint; Fingers; Humans; Needles; Treatment Outcome
PubMed: 35370118
DOI: 10.1016/j.bjps.2021.11.087