-
Acta Stomatologica Croatica Mar 2020Hyaline fibromatosis syndrome (HFS) is a rare autosomal recessive genetic disorder characterized by accumulation of hyalinized fibrous tissue with cutaneous, mucosal,... (Review)
Review
Hyaline fibromatosis syndrome (HFS) is a rare autosomal recessive genetic disorder characterized by accumulation of hyalinized fibrous tissue with cutaneous, mucosal, osteoarticular, and systemic involvement. The condition is caused by a mutation of ANTXR2 gene that results in a faulty synthesis of a transmembrane protein which leads up to excessive deposition of hyaline material in extracellular space. The first signs may be present at birth or appear during infancy, and joint stiffness is the first, most common, symptom. Other manifestations include joint contractures, hyperpigmented macules over bony prominences of the joints, and gingival hypertrophy. The symptom that raises suspicion of HFS is present later, along with subcutaneous growths. The progression of the disease includes enteropathy with extensive protein loss, chronic diarrhea and frequent infections. We present a case of a five-year-old girl with severe gingival hypertrophy that caused difficulties in eating and speaking. To the best of our knowledge, this is also the first patient in Croatia with a confirmed ANTXR2 gene mutation described in the literature.
PubMed: 32523159
DOI: 10.15644/asc54/1/8 -
World Journal of Clinical Cases Aug 2022There is a clear clinical need for efficient physiotherapy and rehabilitation programs during and after bone lengthening and reconstruction for gaining the optimal... (Review)
Review
There is a clear clinical need for efficient physiotherapy and rehabilitation programs during and after bone lengthening and reconstruction for gaining the optimal effect and also prevention or treatment of lengthening side effects. Pin tract infection is the most prevalent side effect during lengthening which could be prevented and treated initially proper wound care. Muscle contractures are typically a consequence of the generated tension on the distracted muscle. It can be managed by physiotherapy initially and surgically in later severe stages. Furthermore, it is essential to avoid muscle contracture development, which is the demonstration of the imbalanced muscle appeals on the joint to inhibit the following subluxation. The knee is the furthermost affected joint by the aforementioned problem due to the inherent lack of ligamentous and bony stability. Joint stiffness is the other possible unfavorable effect of lengthening. It happens because of extensive muscle contractures or may possibly be attributed to rigidity of the joint following the amplified pressure on the joint surface during the process of lengthening. Physiotherapy and occupational therapy including endurance and strength exercise as well as stretching play an important role during the rehabilitation periods for the prevention and also the treatment of muscle contracture and the following deformity and also joint stiffness. Likewise, the effect of mental and physical rehabilitation programs should not be overlooked.
PubMed: 36157817
DOI: 10.12998/wjcc.v10.i24.8482 -
Journal of Plastic, Reconstructive &... Jun 2022It is a long-established teaching to avoid operating on camptodactyly unless there is a failure of non-operative treatment, such as serial splinting and hand therapy,...
INTRODUCTION
It is a long-established teaching to avoid operating on camptodactyly unless there is a failure of non-operative treatment, such as serial splinting and hand therapy, and there is an established proximal interphalangeal joint (PIPJ) contracture of 60°; a recent systematic review reflects this continuing approach, with some papers advocating intervention with a lesser degree of contracture.
AIM
To evaluate whether early flexor digitorum superficialis (FDS) release, followed by gentle passive manipulation (GPM), will correct severe 'congenital' camptodactyly, if undertaken at an earlier age than usual, thus avoiding the more aggressive surgical approach required in the established adolescent cases.
METHOD
The surgical technique and treatment algorithm are described. A multi-centre case series is presented; data analysis included patient demographics, syndromic association, side/digit affected, ages at onset, progression, referral and at surgery, operation details, pre- and post-operative contracture and range of motion.
RESULTS
There were 12 patients (3 males, 9 females) who underwent 15 operations for 24 involved digits. Patients had surgery by 3 months (median) post-referral, and there was a significant improvement in median (range) PIPJ contracture (90°(30°-90°) vs. 0°(0°-45°); p<0.001) and range of motion (0°(0°-60°) vs. 90°(50°-95°); p<0.001), at a median post-operative follow-up of 2.5 years. According to the Siegert grade, 87.5% of digits had excellent/good post-operative outcomes and 12.5% had fair outcomes.
CONCLUSION
This paper specifically addresses the problem of aggressive and progressive camptodactyly in the young child. By this, we mean patients who have failed non-operative treatment and have PIPJ contractures ≥60°, and those whose contractures have increased by 30° within 1 year. All cases responded to early FDS release and GPM, hence correcting the PIPJ contracture. However, cases with multiple digital involvement, whether syndromic or not, and failed previous surgery or the older child, required additional procedures to restore a dynamic dorsal apparatus and active extension.
Topics: Adolescent; Algorithms; Child; Contracture; Female; Finger Joint; Humans; Male; Physical Therapy Modalities; Range of Motion, Articular
PubMed: 35153164
DOI: 10.1016/j.bjps.2022.01.020 -
JBJS Essential Surgical Techniques 2022Open release of a trigger thumb has been shown to be the most reliable option to restore full interphalangeal (IP) joint extension and thus normal thumb-joint motion in...
UNLABELLED
Open release of a trigger thumb has been shown to be the most reliable option to restore full interphalangeal (IP) joint extension and thus normal thumb-joint motion in children. The aim of this procedure is to restore free gliding of the flexor pollicis longus (FPL) tendon in its canal in children with fixed IP joint flexion contractures or those in whom nonoperative treatment modalities have failed.
DESCRIPTION
The surgical procedure is easy to perform and straightforward; however, attention must be given to several details in order to avoid surgical failure and complications. General anesthesia is required for this procedure. The extremity is prepared and draped in a sterile fashion with the patient in the supine position, and a tourniquet is utilized to facilitate surgical dissection. A transverse incision is gently made just adjacent to the thumb metacarpophalangeal (MP) flexion crease, above the so-called Notta nodule. The ulnar neurovascular bundle is retracted to the side, and the Notta nodule, a local enlargement of the FPL tendon, is visualized at the A1 pulley. The pulley is incised longitudinally to allow for full IP joint extension. After verification of full passive motion, the tendon is inspected for any further abnormalities. Then, the tourniquet is released, and the wound is closed with absorbable sutures. We recommend the use of local anesthetics for postoperative pain control. In cases of a trigger thumb stuck in extension, full tenodesis flexion of the IP joint combined with smooth, full passive extension confirms a complete release.
ALTERNATIVES
Nonoperative treatment modalities mainly include watchful waiting for spontaneous resolution, occupational therapy (i.e., passive exercising), and splinting therapy. However, prolonged stretching and splinting may move the nodule to a point distal to the stenotic pulley, thus resulting in a trigger thumb locked in extension with a loss of IP flexion. Alternative surgical treatment techniques involve percutaneous trigger thumb release or open release with alternative surgical approaches (e.g., an oblique or Brunner incision).
RATIONALE
Several reports have shown that open release of a trigger thumb leads to the most reliable outcomes in terms of achievement of range of motion and complications. The main advantage of this procedure is the perfect visualization of the FPL tendon beneath the stenotic A1 pulley, which allows for a complete A1 release with clear vision. Such visualization cannot be provided with use of percutaneous techniques, which position the neurovascular bundle in potential danger for iatrogenic injury or may lead to incomplete pulley release. Moreover, the use of this procedure allows parents to avoid the prolonged therapy and splinting associated with nonoperative treatment. Formal rehabilitation is usually not necessary postoperatively.
EXPECTED OUTCOMES
Open release of a trigger thumb is a safe and reliable option that leads to full range of motion in 95% of children, which is substantially higher than for nonoperative treatment with therapy (55%) and splinting (67%). Even delayed open release may provide satisfactory outcomes. Although spontaneous resolution without surgery has been reported in 63% of cases, patients with a flexion contracture of >30° showed spontaneous resolution in only 2.5% of cases. Furthermore, the open surgical technique has been shown to have a lower rate of complications (around 3.4%) compared with percutaneous techniques, which showed a 3.29 times increased risk of recurrence and relevant injury to the neurovascular bundle. If the A1 is fully divided, recurrence is highly unlikely. Postoperative rehabilitation is very quick following open release of a trigger thumb because closure under local anesthesia provides a painless postoperative course, wounds heal within a few days, and children are allowed to resume play immediately once a bandage is applied.
IMPORTANT TIPS
The use of surgical loupes is of paramount importance to safely perform this procedure.Place the skin incision adjacent but not directly onto the palmar MP flexion crease for better scar formation.Divide the skin very gently because the A1 pulley is located directly under the skin, and the FPL and radial nerve can be harmed easily. Retract the ulnar neurovascular bundle aside so as to allow for safe preparation until A1 division.Divide the A1 pulley until the Notta nodule on the FPL can safely glide distally into full IP extension. In some cases with large, distally-sitting nodules, the pulley incision must be extended distally into the oblique bundle.A sign that the entire A1 pulley is released is seeing the corner formed by the distal edge of the pulley and the longitudinal cut in the pulley. Additionally, the cut halves of the fully released pulley will rest completely in the sagittal plane of the thumb, no longer converging over the FPL tendon.Tight bands can exist proximal and distal to the A1 pulley and should be released as well if present.Check for a tight IP volar plate following A1 division, which may require postoperative splinting.For thumbs stuck in extension, tenodesis can be utilized to verify complete A1 release.Utilize absorbable sutures, local anesthesia, and a bulky dressing to allow a comfortable postoperative course.
ACRONYMS AND ABBREVIATIONS
IP = interphalangealMP = metacarpophalangealFPL = flexor pollicis longusROM = range of motionANOVA = analysis of variance.
PubMed: 36741041
DOI: 10.2106/JBJS.ST.21.00053 -
Plastic and Reconstructive Surgery.... May 2024This study aimed to demonstrate the clinical application of the dorsoproximal interphalangeal island flap as an alternative approach to skin graft or cross-finger flap...
BACKGROUND
This study aimed to demonstrate the clinical application of the dorsoproximal interphalangeal island flap as an alternative approach to skin graft or cross-finger flap to repair lesions at the ventral site at the proximal interphalangeal (PIP) finger joint.
METHODS
Fifteen patients received flaps (11 men and four women, n = 25 flaps). The repair of volar contracture in finger sequelae after burn injuries was the main indication. Five patients underwent two or more flaps during the same surgical session. The mean patient age was 18 years (range, 7-56 years). Most patients presented with palmar finger contractures of the PIP joint. In three patients, six flaps were rotated to the lateral radial and ulnar proximal surfaces of the finger to treat syndactyly.
RESULTS
Most flaps survived and provided satisfactory functional and aesthetic improvement of palmar scar contracture in the PIP region. Postoperative donor site follow-up was normal. The color and pliability of the skin are similar to those of the surrounding area. The follow-up period ranged from 6 months to 12 years.
CONCLUSIONS
Dorsoproximal interphalangeal island flaps are an option for repairing lesions that lack soft tissue and range in size from 10 × 15 to 12 × 18 mm at the volar site and around the PIP joint. The arch of rotation of this flap allows for lateral, ulnar, and radial rotations around the joint. The indication of six flaps in three patients to repair a proximal lack of tissue caused by syndactyly demonstrated its potential use in this anomaly.
PubMed: 38798926
DOI: 10.1097/GOX.0000000000005805 -
Journal of Neuroengineering and... Feb 2021People with brain or neural injuries, such as cerebral palsy or spinal cord injury, commonly have joint hyper-resistance. Diagnosis and treatment of joint...
BACKGROUND
People with brain or neural injuries, such as cerebral palsy or spinal cord injury, commonly have joint hyper-resistance. Diagnosis and treatment of joint hyper-resistance is challenging due to a mix of tonic and phasic contributions. The parallel-cascade (PC) system identification technique offers a potential solution to disentangle the intrinsic (tonic) and reflexive (phasic) contributions to joint impedance, i.e. resistance. However, a simultaneous neurophysiological validation of both intrinsic and reflexive joint impedances is lacking. This simultaneous validation is important given the mix of tonic and phasic contributions to joint hyper-resistance. Therefore, the main goal of this paper is to perform a group-level neurophysiological validation of the PC system identification technique using electromyography (EMG) measurements.
METHODS
Ten healthy people participated in the study. Perturbations were applied to the ankle joint to elicit reflexes and allow for system identification. Participants completed 20 hold periods of 60 seconds, assumed to have constant joint impedance, with varying magnitudes of intrinsic and reflexive joint impedances across periods. Each hold period provided a paired data point between the PC-based estimates and neurophysiological measures, i.e. between intrinsic stiffness and background EMG, and between reflexive gain and reflex EMG.
RESULTS
The intrinsic paired data points, with all subjects combined, were strongly correlated, with a range of [Formula: see text] in both ankle plantarflexors and dorsiflexors. The reflexive paired data points were moderately correlated, with [Formula: see text] in the ankle plantarflexors only.
CONCLUSION
An agreement with the neurophysiological basis on which PC algorithms are built is necessary to support its clinical application in people with joint hyper-resistance. Our results show this agreement for the PC system identification technique on group-level. Consequently, these results show the validity of the use of the technique for the integrated assessment and training of people with joint hyper-resistance in clinical practice.
Topics: Adult; Algorithms; Ankle Joint; Contracture; Electric Impedance; Electromyography; Female; Humans; Male; Muscle, Skeletal; Neuromuscular Diseases; Online Systems; Signal Processing, Computer-Assisted
PubMed: 33596944
DOI: 10.1186/s12984-021-00809-3 -
Journal of Orthopaedic Research :... May 2021Knee joint contracture is often induced by anterior cruciate ligament reconstruction (ACLR). However, the temporal and spatial arthrofibrotic changes following...
Knee joint contracture is often induced by anterior cruciate ligament reconstruction (ACLR). However, the temporal and spatial arthrofibrotic changes following inflammatory events, which occur in parallel with the formation of joint contractures after ACLR, are unknown. This study aimed to reveal: (a) time-dependent changes in myogenic and arthrogenic contractures; and (b) the process of arthrofibrosis development after ACLR. ACLR was performed on knees of rats unilaterally. Passive ranges of motions (ROMs) before and after myotomy, as well as inflammatory and fibrotic reactions, were examined before and after the surgery at various periods up to 56 days. Both ROMs before and after myotomy exhibited their lowest value on day 7 and increased thereafter in a time-dependent manner; nevertheless, significant restrictions remained by day 56. Myotomy partially increased ROMs at all time points, indicating contribution of the myogenic component to ACLR-induced contracture. Inflammatory and fibrotic reactions peaked on day 7. Arthrofibrosis, characterized by the thickening of the joint capsule and the shortening of the synovial length, was established by day 7 and was not completely resolved by day 56. Our results indicate that: (a) both myogenic and arthrogenic contractures generated through ACLR develop maximally by day 7 after surgery and subside thereafter, but persist at least until day 56; and (b) arthrofibrosis is established by day 7 after surgery and is not completely resolved by day 56. These findings suggest that treatment and intervention for preventing joint contracture after ACLR should be performed within the first 7 days after surgery.
Topics: Animals; Anterior Cruciate Ligament Reconstruction; Contracture; Cytokines; Fibrosis; Joint Capsule; Knee Joint; Male; Range of Motion, Articular; Rats; Rats, Wistar; Time Factors
PubMed: 32667709
DOI: 10.1002/jor.24800 -
Journal of Healthcare Engineering 2022Unilateral knee extension restriction might change trunk alignment and increase mechanical load on the lumbar region during walking. We aimed to clarify lumbar region...
Unilateral knee extension restriction might change trunk alignment and increase mechanical load on the lumbar region during walking. We aimed to clarify lumbar region mechanical load during walking with restricted knee extension using a musculoskeletal model simulation. Seventeen healthy adult males were enrolled in this study. Participants walked 10 m at a comfortable velocity with and without restricted right knee extension of 15° and 30° using a knee brace. L4-5 joint moment, joint reaction force, and muscle forces around the lumbar region during walking were calculated for each condition. Peaks of kinetic data were compared among three gait conditions during 0%-30% and 50%-80% of the right gait cycle. Lumbar extension moment at early stance of the bilateral lower limbs was significantly increased in the 30° restricted condition ( ≤ 0.021). Muscle force of the multifidus showed peaks at stance phase of the contralateral side during walking, and the erector spinae showed force peaks at early stance of the bilateral lower limb. Muscle force of the multifidus and erector spinae increased with increasing degree of knee flexion ( ≤ 0.010), with a large effect size ( = 0.273-0.486). The joint force acting on L4-5 showed two peaks at early stance of the bilateral lower limbs during the walking cycle. The anterior and vertical joint force on L4-5 increased by 14.2%-36.5% and 10.0%-23.0% in walking with restricted knee extension, respectively ( ≤ 0.010), with a large effect size ( = 0.149-0.425). Restricted knee joint extension changed trunk alignment and increased the muscle force and the vertical and anterior joint force on the L4-5 joint during walking; this tendency became more obvious with increased restriction angle. Our results provide important information for therapists engaged in the rehabilitation of patients with knee contracture.
Topics: Adult; Biomechanical Phenomena; Gait; Humans; Knee Joint; Lower Extremity; Lumbosacral Region; Male
PubMed: 36046010
DOI: 10.1155/2022/1151753 -
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 -
Pediatric Rheumatology Online Journal Jan 2023Dry synovitis (DS) is a rare entity as only a few cases have been reported to date. We describe the clinical features, radiological manifestations and course of DS in...
BACKGROUND
Dry synovitis (DS) is a rare entity as only a few cases have been reported to date. We describe the clinical features, radiological manifestations and course of DS in comparison with rheumatoid factor negative polyarticular juvenile idiopathic arthritis (RFneg-polyJIA).
METHODS
We performed a multicenter retrospective collection of data of DS patients who presented with progressive joint limitations without palpable synovitis, absence of elevated acute phase reactants, negative ANA and RF, and imaging showing joint and/or osteochondral involvement. For comparative purposes, we included a cohort of RF neg-polyJIA patients.
RESULTS
Twelve DS patients, 8F/4 M, with mean age at onset of 6.1 years, were included. Presenting signs comprised delayed motor development, functional limitations and/or progressive stiffness. Clinical examination showed symmetric polyarticular involvement with variable muscular atrophy. MRI showed mild, diffuse synovial involvement, without effusion. With time, signs of progressive osteochondral damage became evident, despite treatment. All patients were treated with low-dose corticosteroids and methotrexate. Anti-TNF agents were prescribed in five. The response was variable with limited joint mobility in 11/12, and need of joint replacement in 2. In comparison with a cohort of RFneg-polyJIA, DS patients presented higher number of joint involved (p = 0.0001) and contractures (p = 0.0001), less swelling (p = 0.0001) and prolonged diagnostic delay (p = 0.0001).
CONCLUSION
DS represents a unique juvenile-onset arthropathy, distinct from polyarticular JIA. Awareness among pediatricians is essential for early recognition and proper treatment. Further studies, including synovial pathology, immunology and genetics may contribute to a better understanding of this rare disorder of childhood.
Topics: Humans; Child; Arthritis, Juvenile; Retrospective Studies; Delayed Diagnosis; Tumor Necrosis Factor Inhibitors; Synovitis
PubMed: 36691078
DOI: 10.1186/s12969-023-00789-9