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Multicore myopathy: respiratory failure and paraspinal muscle contractures are important complications.

Three ambulant males with multicore myopathy, a rare congenital myopathy, are reported with nocturnal hypoventilation progressing to respiratory failure at the age of 9, 13, and 21 years. Deterioration in these individuals occurred over several months without any precipitating event. Patients had clinical evidence of nocturnal hypoventilation with hypoxaemia and hypercapnia. Forced vital capacity was significantly reduced (20 to 43% of predicted level). These parameters improved on institution of overnight ventilation using a BiPAP pressure support ventilator with face mask or nasal pillows with O2 saturation maintained above 90% overnight and an increase in forced vital capacity by as much as 100% (0.3 to 0.6 litres). This was matched by a symptomatic and functional improvement. Also present in these patients and not previously reported is the association of multicore myopathy with paraspinal contractures which produce a characteristic scoliosis described as a 'side-sliding' spine. This may be improved by spinal bracing or surgery.

Adolescent↗

Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures.

Among the diverse family of collagens, the widely expressed microfibrillar type VI collagen is believed to play a role in bridging cells with the extracellular matrix. Several observations imply substrate properties for cell attachment as well as association with major collagen fibers. Previously, we have established genetic linkage between the genes encoding the three constituent alpha-chains of type VI collagen and Bethlem myopathy. A distinctive feature of this autosomal dominant disorder consists of contractures of multiple joints in addition to generalized muscular weakness and wasting. Nine kindreds show genetic linkage to the COL6A1-COL6A2 cluster on chromosome 21q22.3 (refs 3,4; manuscript submitted) whereas one family shows linkage to markers on chromosome 2q37 close to COL6A3 (ref. 5). Sequence analysis in four families reveals a mutation in COL6A1 in one and a COL6A2 mutation in two other kindreds. Both mutations disrupt the Gly-X-Y motif of the triple helical domain by substitution of Gly for either Val or Ser. Analogous to the putative perturbation of the anchoring function of the dystrophin-associated complex in congenital muscular dystrophy with mutations in the alpha 2-subunit of laminin, our observations suggest a similar mechanism in Bethlem myopathy.

Base Sequence↗

Physiotherapy for the treatment of articular contractures in haemophilia.

Articular contractures in haemophilia are impairments that can not be cured by means of physiotherapy because of the pathophysiology of the joint. Rehabilitation, however, tries to diminish the disabilities and prevent handicaps caused by the impairments. Physiotherapy aims at pain reduction by means of manual traction. Next to manual traction the intensive physiotherapy programme includes mobilization techniques, muscle strengthening exercises and stretching, joint stability training, postural and gait, training, and functional training. In all 50 haemophilia patients have undergone this intensive 4-week clinical rehabilitation programme. Data of 20 of these severe haemophilia patients show that the mean range of motion at the start of the rehabilitation period, after 4 weeks and after 5 years do not differ. In spite of progressing arthropathy after 5 years the activities of daily living (ADL), walking range and pain are equal or better according to 13 of 15 patients.

Contracture↗

Correction of fixed contractures during total knee arthroplasty in haemophiliacs.

Encouraging clinical experience has increased the indications for prosthetic knee arthroplasty in haemophiliacs. The medical status, physical disability, age and projected activity levels are the major factors in determining treatment for the patient with unilateral or bilateral haemophilic arthropathy of the knee. In more severely involved knees of patients with haemophilia, flexion contracture is a common deformity. In addition, valgus, external rotation deformity and posterior subluxation of the tibia may exist. The surgeon must have the expertise and experience to correct these deformities sufficiently when performing a total knee arthroplasty. A properly performed soft-tissue release which achieves balance between the medial and lateral ligamentous structures and posterior capsule can provide stability to the knee with a semiconstrained prosthesis. In cases with severe deformity requiring resection of the posterior cruciate ligament a posterior cruciate substituting prosthesis may be necessary.

Arthroplasty, Replacement, Knee↗

Early "simple" release of posttraumatic elbow contracture associated with heterotopic ossification.

"Simple" elbow release in the setting of heterotopic ossification is defined as excision of ectopic bone and removal of restricting soft tissues without associated articular procedures. In the past, such procedures were postponed until bone scans were quiescent, serum alkaline phosphatase was normal, and the ectopic bone was mature. Postoperative management sometimes included radiation therapy, prolonged nonsteroidal anti-inflammatory agents, and intensive physiotherapy. We believe that delayed treatment beyond the time of fracture healing is unnecessary to obtain results comparable to those of previous studies. Similarly, we propose that radiation therapy is not necessary after excision of heterotopic ossification. Fourteen patients (15 elbows) were prospectively managed with early excision of posttraumatic heterotopic ossification, immediate postoperative mobilization, and a 5-day course of indomethacin. The average time from injury to release was 23 weeks. The mean preoperative arc of flexion/extension was 43 degrees; that of pronation/supination was 79 degrees. After 2 years, the corresponding values were 120 degrees and 152 degrees. Cubital tunnel syndrome, present in 5 patients, resolved after surgery. Three postoperative complications occurred in 2 patients. There were no recurrent contractures or loss of motion.

Adult↗

One-bone forearm fusion for pediatric supination contracture due to neurologic deficit.

The purpose of this study was to review the construction of a one-bone forearm performed to change the position of the forearm in children with fixed supination deformity due to upper extremity neurologic deficit. The one-bone forearm arthrodesis has been previously described in treating trauma, tumors, infection, and congenital deformities. It has not been described to improve forearm position in neurologically impaired upper extremities. We retrospectively evaluated 6 pediatric patients with upper extremity weakness and severe supination contracture who underwent forearm arthrodesis in neutral or slight pronation. Five patients achieved fusion, and 1 patient had an atrophic nonunion (17% nonunion rate). Average follow-up was 6 years 6 months (range 1 year 9 months to 11 years 2 months), and all patients were satisfied with their new forearm position.

Adolescent↗

Long-term results of surgical management of proximal interphalangeal joint contracture.

To evaluate the long-term results of surgical treatment of proximal interphalangeal (PIP) joint contractures, 68 PIP joints were retrospectively reviewed with a minimum follow-up period of 24 months. Preoperative and intraoperative factors were studied for outcomes and subjected to statistical analysis. Among the total group the average improvement was 7.5 degrees. When grouped by diagnosis into simple (less severe diagnoses) and complex (more severe diagnoses) the average degrees gained were 17.2 degrees and 0.5 degrees, respectively. The statistically significant factors that were identified that affected results were age, number of prior procedures, preoperative flexion, removal of an exostosis, number of structures addressed, and preoperative arc of motion. The second surgery (joints requiring repeat release or salvage procedure) rates were 35% overall, 29% simple, and 39% complex; the difference was not significant. The best surgical candidate is a patient younger than 28 years with a less severe diagnosis and who has preoperative maximum flexion measurement < 43 degrees.

Adolescent↗

Pseudoankylosis of the mandible as a result of methyl methacrylate-induced inflammatory cicatricial contracture of the temporal muscle after cranioplasty.

Pseudoankylosis of the mandible after intracranial surgical procedure has been widely reported, and is usually caused by fibrosis of the temporal muscle as a result of injury during the operation. We present an unusual case of mandibular pseudoankylosis as a result of methyl methacrylate-induced aseptic inflammatory cicatricial contracture of the temporal muscle after cranioplasty.

Adult↗

The salute splint for axillary contractures.

A new splint for use in the treatment of burn contractures of the axilla is presented. The splint is easy to deploy, comfortable for patients and achieves the same results as other splints.

Axilla↗

Palmar segmental aponeurectomy for Dupuytren's disease with metacarpophalangeal flexion contracture.

Eighty palmar segmental aponeurectomies were performed between 1993 and 1999 for well-localized palmar cords with metacarpophalangeal flexion contracture. A retrospective patient review with a minimum follow-up of 1-year demonstrated a 6% rate of recurrent metacarpophalangeal flexion and two minor complications. Segmental aponeurectomy rather than limited fasciectomy is recommended for this type of disease.

Adult↗

Chronic flexion contracture of proximal interphalangeal joint treated with the compass hinge external fixator. A consecutive series of 27 cases.

Twenty-seven chronic flexion contractures of the proximal interphalangeal joint were treated with the Compass((R)) hinge external fixator without open surgery. The fixator was removed after a mean of 33 (range, 14-68) days. The mean time from injury to operation was 4 (range, 1-19) years and all patients were reviewed at a mean follow-up of 21 (range, 12-50) months. The mean extension gain was 38 degrees (range, 0-70 degrees), and the mean flexion-extension arc improved by 42 degrees (range, 0-80 degrees). Complications included superficial pin-track infection in 11 cases and pin loosening in four cases.

Adolescent↗

[Psychogenic joint contractures exemplified by somatoform hysteria].

We would like to report about a 25-year-old female patient with a psychogenic knee contracture as part of a hysterical personality disorder. After having had multiple surgical procedures including 5 knee arthroscopies in 5 different orthopedic departments, we found a nearly full range of movement during an examination under general anaesthesia. Psychoanalytical investigations finally revealed a surprising, past history of the patient and her family. In addition we highlight the relevant literature.

Adult↗

Scar contractures, hypertrophic scars, and keloids.

A scar contracture is the result of a contractile wound-healing process occurring in a scar that has already been reepithelialized and adequately healed. Keloids and hypertrophic scars (HTSs) are fibrous tissue outgrowths that result from a derailment in the normal wound-healing process. The exact incidence of keloids and HTSs remains unknown. Beyond the common belief that trauma is the initiating event of keloid and hypertrophic scar formation, the remainder of the process remains uncertain. A combination of biochemical factors, skin tension, endocrinologic factors, and genetic factors are the likely culprits. Treatment begins by educating the patient about the etiology of the scarring process. All treatment protocols are individualized, but the standard approach to keloids and HTSs begins with corticosteroid injection followed by surgical excision, pressure dressings, and long-term follow-up.

Adrenal Cortex Hormones↗

Expanded latissimus dorsi free flap for the treatment of extensive post-burn neck contracture.

An expanded latissimus dorsi flap (expanded LD flap) was transferred in two patients with severe post-burn neck contracture. Free flaps created using standard techniques are of limited size and sometimes cannot cover the defect after excision of scar tissue, particularly when a severe burn scar extends to the facial region. However, the authors found in their cases that the expanded LD flap could cover the whole anterior neck and face. The flap was sufficiently reduced in thickness so that revisional operations required for debulking were limited to the area around the pedicles. It is suggested that tissue expansion prior to free flap transfer is useful for enlargement of the flap survival area and thinning of the flap.

Adult↗

Congenital muscular dystrophy with short stature, proximal contractures and distal laxity.

We report 5 cases (2 familial and 3 sporadic) who share a diagnosis of congenital muscular dystrophy (CMD) in association with short stature, proximal contractures, rigidity of the spine and distal joint laxity as well as early respiratory failure and mild to moderate mental retardation. The expression of collagen VI was confirmed to be normal on muscle biopsies of all 5 patients and in the informative family linkage to any of the three COL6 A loci was excluded. These findings extend the phenotypes within the CMD classification.

Adolescent↗

Microdissection thinning of a pedicled deep inferior epigastric perforator flap for burn scar contracture of the groin: case report.

A severe burn scar contracture of the groin in a 25-year-old woman was successfully reconstructed with microdissection and thinning of a pedicled deep inferior epigastric perforator (DIEP) flap. This perforator flap is a relatively thin cutaneous flap, but may still require secondary defatting procedures, especially when used for coverage of mobile anatomic areas such as the groin and axilla. A deep inferior epigastric perforator flap was radically thinned by excising the subcutaneous fatty layer very carefully under loupe magnification, to preserve the subdermal vascular plexus. One year after surgery, the patient can abduct and rotate the hip freely without limitation.

Adult↗