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Syndromic craniosynostosis with elbow joint contracture.

This paper reports a new type of syndromic craniosynostosis that was diagnosed by DNA analysis of the patient's fibroblast growth factor receptor (FGFR) genes. At birth, a male infant had ocular proptosis, a pseudotail, and obstructed respiration. He developed craniosynostosis, craniofacial dysmorphism, hydrocephalus, and bilateral contracture of his elbow joints. His treatment included fronto-orbital advancements and a ventriculoperitoneal shunt. Genetic analysis revealed that he was heterozygous for a missense mutation in exon 9 of the FGFR2 gene that resulted in an amino acid substitution of cysteine for serine at residue 351 (Ser351Cys). Seven cases with this mutation had previously been reported. All had severe craniosynostosis with midface hypoplasia, elbow joint contracture, developmental retardation, and early death.

Amino Acid Substitution↗

Contracture and the calcium paradox in the rat heart.

The role of contracture in the manifestation of calcium paradox-induced damage was examined using 2,3-butanedione monoxime (BDM) to inhibit myofibrillar activity. Calcium and sodium gain, loss of intracellular components, and changes in structure were monitored. If 30 mM BDM was added at the time of calcium repletion after 10 minutes of calcium-free perfusion, some protection was afforded, particularly at the early stages of calcium repletion. However, much greater protection was obtained if BDM was present during the final 2 minutes of calcium-free perfusion and throughout repletion. Sodium gain and loss of intracellular components were markedly attenuated, as was the incidence of severely contracted cells. Calcium gain, although significantly reduced during the period of repletion, was not abolished. After 10 minutes of repletion, a calcium content of 11.44 +/- 1.57 mumol/g dry wt was observed. This suggests that other noncontracture related routes of calcium entry are involved. If BDM is removed after 5 minutes of calcium repletion and perfusion is continued with BDM-free perfusate, there is a rapid gain of sodium, further gain of calcium, loss of intracellular components and the cells contract severely, tearing away from neighboring cells. It is evident, therefore, that returning calcium to hearts after a period of calcium-free perfusion under conditions that significantly reduce the typical calcium paradox-associated damage does not necessarily repair the underlying defect. These results support the hypothesis that contracture-induced sarcolemmal disruption may be responsible for the terminal manifestation of the calcium paradox.

Animals↗

Effects of electrical stimulation on flexion contractures in the hemiplegic wrist.

OBJECTIVE: To study the effects of electrical stimulation (ES) on flexion contractures in the hemiplegic wrist. DESIGN: The investigation was carried out following an OFF (two weeks with rehabilitation only)--ON (two weeks with ES treatment and rehabilitation)--OFF (two weeks rehabilitation only) fixed protocol. SETTING: A stroke ward and an outpatient stroke service. SUBJECTS: Eleven hemiplegic subjects with reduced range of extension and increased resistance to passive movement at the wrist. MAIN MEASURE: Quantitative measures of the hemiplegic posture at the wrist, passive range of extension and resistance to passive extension of the wrist. Measurements were taken at the start of the study and then at two-weekly intervals. Two extra measurements were taken at the end of the ON period. RESULTS: Following two weeks treatment with ES the posture of the wrist improved and the passive range of extension increased. However, there were no significant changes in the resistance to passive movement. These benefits appeared largely to be lost two weeks after ES was discontinued. CONCLUSIONS: Short-term ES gives temporary improvements in contractures at the wrist in poststroke hemiplegia.

Aged↗

A pilot randomized controlled trial of a daily muscle stretch regime to prevent contractures in the arm after stroke.

OBJECTIVE: To evaluate the feasibility and effects of daily stretch positioning for prevention of contractures in stroke patients without arm function. DESIGN: Randomized controlled pilot study. SETTING: Stroke rehabilitation ward, U.K. SUBJECTS: Twenty-five subjects drawn from an initial pool of 126 presenting with loss of arm function, all within four weeks of stroke. INTERVENTIONS: In addition to usual care, subjects in the experimental group (n=13) were prescribed two 30-min stretches for wrist and finger flexors and two 30-min stretches targeting shoulder adductors and internal rotators, per day for up to 12 weeks post stroke. Stretches were carried out by therapists and nursing staff. MAIN MEASURES: Passive range of wrist extension and shoulder external rotation to standard force or to pain at four, eight and twelve weeks after stroke. RESULTS: Compliance was variable. Frequency of positioning was fair from four to eight weeks post stroke but declined after that. Mean (SD) frequency of stretch positions completed between four and eight weeks was 36.5 (13.0) for the wrist, 31.2 (14.1) for the shoulder, out of 56 prescribed. There were no significant effects of treatment. By eight weeks post stroke the mean range of wrist extension and shoulder external rotation lost on the affected side in both groups was approximately 30 degrees. CONCLUSIONS: The stretch treatment was not well tolerated over many weeks. Statistical power was low due to the large degree of variability of range of motion and small sample size. The regime tested cannot be recommended as a workable treatment to prevent contractures.

Aged↗

Facial myokymia and spastic paretic facial contracture as the result of anaplastic pontocerebellar glioma.

The case of a 36-year-old man who sought treatment of right facial myokymia and spastic paretic facial contracture is reported. Computed tomography and magnetic resonance imaging revealed a tumor located in the right cerebellar peduncle and the right dorsal pons bulging into the fourth ventricle. After microsurgical partial resection of the mass, which was verified histologically as an anaplastic glioma, facial myokymia initially ceased. The vermicular rippling movements were less intense upon recurrence and could be controlled by low-dose dexamethasone in the further course, when magnetic resonance imaging showed an interstitial pontine edema after percutaneous radiation therapy. It is assumed that facial myokymia and spastic paretic facial contracture were generated by ectopic activity due to alterations in the microenvironment at the intrapontine portion of the axons of the seventh nerve caused by the compressive effect of the tumor and later by edema.

Adult↗

The clinical manifestations and pathomechanics of contracture of the extensor mechanism of the knee.

Experience with thirty-eight Asian children and adolescents who presented with either stiffness of the knee, genu recurvatum, habitual dislocation of the patella or congenital lateral dislocation of the patella showed that all those disorders were manifestations of contracture of the extensor mechanism, which fell into two groups according to the components involved. In Group I the main components affected were in the midline of the limb, namely rectus femoris and vastus intermedius; these patients presented with varying degrees of stiffness of the knee, or worse, with genu recurvatum. In Group II the main components involved were lateral to the midline of the limb, namely vastus lateralis and the ilio-tibial band; these patients presented with habitual dislocation of the patella, or worse, congenital lateral dislocation of the patella. In both groups untreated patients developed secondary adaptive changes such as subluxation of the tibia or marked genu valgum which made operative procedures more formidable and less effective. Release of the contracture should therefore be performed as early as possible.

Adolescent↗

Triceps contracture caused by injections. A report of 11 cases.

Eleven cases are reported of contracture of the triceps muscle following intramuscular injections. This occurred in one arm of each of 11 children aged from 6 to 13 years, all of whom had a definite history of repeated injections. In seven of the cases the injections were of oxytetracycline. On presentation only 30 degrees to 35 degrees of flexion was possible. Physiotherapy for 4 to 12 weeks produced improvement, but in four cases early operation for excision of fibrous tissue and lengthening of the triceps was necessary to restore adequate flexion. Four other cases required operation after late relapse. The condition is rare, and is compared with similar and more commonly reported contractures in the quadriceps and the deltoid muscles.

Adolescent↗

The medial approach for operative release of post-traumatic contracture of the elbow.

We treated post-traumatic contracture of the elbow in 13 consecutive patients (14 elbows) by operative release. Through a single medial approach, the posterior oblique bundle of the medial collateral ligament was resected, followed by posterior and anterior capsulectomies. An additional lateral release through a separate incision was required in only four elbows. The results were assessed at a mean interval of 57 months after operation. Before surgery active extension lacked 43 degrees which improved to 17 degrees after operation. Active flexion before operation was 89 degrees, which improved to 127 degrees. The mean arc of movement increased from 46 degrees to 110 degrees. All 14 elbows showed scarring of the posterior oblique bundle of the medial collateral ligament. Neither the interval from injury to operative release nor the age of the patient affected the results. A medial approach is useful to reveal and excise the pathological changes in the medial collateral ligament. It is a safe and effective route through which to correct post-traumatic contracture of the elbow.

Adolescent↗

Congenital contractural arachnodactyly with neurogenic muscular atrophy: case report.

We report the case of a 3-(1/2)-year-old girl with hypotonia, multiple joint contractures, hip luxation, arachnodactyly, adducted thumbs, dolichostenomelia, and abnormal external ears suggesting the diagnosis of congenital contractural arachnodactyly (CCA). The serum muscle enzymes were normal and the needle electromyography showed active and chronic denervation. The muscle biopsy demonstrated active and chronic denervation compatible with spinal muscular atrophy. Analysis of exons 7 and 8 of survival motor neuron gene through polymerase chain reaction did not show deletions. Neurogenic muscular atrophy is a new abnormality associated with CCA, suggesting that CCA is clinically heterogeneous.

Child, Preschool↗

Craniosynostosis with joint contractures, ear deformity, cleft palate, scoliosis, and other features.

A case of craniosynostosis with joint contractures, ear deformity, cleft palate, scoliosis, and many other features is presented. The patient's skull was round with craniosynostosis of the coronal suture. The fingers were slender and long; the finger joints were contracted. Trismus was also present. Contracture of the temporomandibular joint was suspected. The helices were flat, antihelices were minimal, and the ears protruded. Furthermore, the facial and cranial features of this patient included mild hypertelorism, ocular proptosis, short pons nasi, flat radix nasi, mild retrognathia, and small oral fissure. In the oral cavity, a relatively wide cleft extended from the soft palate to the uvula. A frontal chest radiograph revealed a mild scoliosis. Differential diagnoses are discussed in reported syndromes with craniosynostosis.

Abnormalities, Multiple↗

Ultrasound therapy for the prevention and correction of contractures and bone mineral loss associated with wing bandaging in the domestic pigeon (Columba livia).

Figure-of-eight wing bandaging is widely used to treat wing injuries, to immobilize wings before and after fracture repair, and during transient wing paralysis. However, prolonged bandaging can lead to bone loss and to contractures and reduced range of joint motion. Studies evaluating the efficacy of therapeutic ultrasound to reverse and prevent bandaging-associated contractures in pigeons (Columba livia) showed a significant increase in elbow and carpal extension after 10 twice weekly ultrasound treatments when started either 4 or 11 days after bandage placement. In addition, after 42 days of wing bandaging, three ultrasound treatments stimulated a faster reversal of carpal wing rotation loss than removal of the bandage over the 10-day treatment period. Finally, bone loss in response to 28 days of bandaging was significant, progressed at 2.8% per week, and was not affected by ultrasound treatment twice weekly during this period. Therefore, therapeutic ultrasound prevented and reversed loss of wing extension associated with figure-of-eight bandaging but did not lessen the disuse osteoporosis created by bandaging in these birds.

Absorptiometry, Photon↗

Changes in permeability of rabbit articular cartilage caused by joint contracture as revealed by the peroxidase method.

Changes in permeability of adult rabbit articular cartilage caused by joint contracture were studied by light and transmission electron microscopy, employing horseradish peroxidase (HRP) as an indicator. The knee joint was plaster-immobilized for 0, 2, 4, 6, or 8 weeks in the flexion position. One ml of 4% HRP was administered in the articular cavity of the knee joint and allowed to diffuse and permeate into the articular cartilage. Distribution of the permeated HRP was visualized in the cartilage taken from the lateral condyle of the femur, utilizing the DAB-H2O2 reaction. In the normal and the non-immobilized joints, the permeated HRP reached to the matrix and chondrocytes situated in the deep layer of the articular cartilage. HRP was heavily deposited in the intercellular matrices, particularly around the chondrocytes, and was actively endocytosed by these cells. In the plaster-immobilized joints, especially after 4 weeks or longer of immobilization, the administered HRP had not permeated well and was restricted to the surface (lamina splendens) and the superficial layer of the cartilage. These results show that administered HRP diffuses into the deep layer of the articular cartilage and is actively endocytosed by chondrocytes and that the permeability of articular cartilage is remarkably reduced by joint contracture.

Animals↗

Hereditary lipo-muscular atrophy with joint contracture, skin eruptions and hyper-gamma-globulinemia: a new syndrome.

We previously reported two siblings with decreased subcutaneous adipose tissue, muscular atrophy, joint contractures, recurrent skin eruptions, hyper-gamma-globulinemia, and reduced natural killer cell activity. Some of their clinical features are similar to those of partial lipodystrophy, but they are distinct in that muscular atrophy, joint contractures and recurrent skin eruptions are not found in patients with partial lipodystrophy. Thirteen other Japanese patients with similar clinical manifestations have been reported. We propose that such cases should be considered a distinct clinical entity.

Contracture↗

MRI diagnosis of contracture of the gluteus maximus muscle.

OBJECTIVE: The objective of our study was to describe MRI features of contracture of the gluteus maximus muscle after providing a retrospective review of the MRI studies of 21 patients. CONCLUSION: Gluteal contracture manifests characteristic features on MRI, including an intramuscular fibrotic cord extending to the thickened distal tendon with atrophy of the gluteus maximus muscle and posteromedial displacement of the iliotibial tract. In advanced cases, medial retraction of the muscle and its tendon results in a depressed groove at the muscle-tendon junction and external rotation of the proximal femur. Clinical correlation and meticulous physical examination may confirm the MR diagnosis.

Adolescent↗

Characterization of implants from Dupuytren's contracture tissue into the nude (athymic) mouse.

Dupuytren's contracture tissues were obtained from six patients as excess surgical material. Pieces of these tissues (a total of 38 implants) were placed into subcutaneous pockets in the suprascapular area of nude (athymic) mice. The objective was to determine whether the implant tissues would be maintained in the mouse with the characteristics of Dupuytren's tissue. The implants were removed for study at 14-179 days after implantation. Microvascular anastomosis between implant and host skin was established within the first 14 days. Histologic character and electron microscopic structure of the implants did not change during the course of the study. The implants became reduced in size with time. However, neither the spatial pattern of collagen nor the appearance of fibroblast cells changed. The original high levels of chondroitin-4-sulfate were significantly decreased in the 66- to 179-day postimplantation group, but were not significantly different from the values for normal fascial bands. The hyaluronic acid of the implants increased significantly with time of implantation, but never reached the level found in the normal fascial bands. The use of implants into nude mice may be useful for further experimental studies of Dupuytren's contracture.

Animals↗

Splinting proximal interphalangeal joint flexion contractures: a new design.

Proximal interphalangeal joint flexion contracture is a common and persistent problem in hand rehabilitation. This article discusses the advantages and disadvantages of several current splint designs for correcting this contracture and introduces an alternate design that uses wire in a 3-point pressure system. The advantages of this design include ease of fabrication, patient appeal, and effectiveness.

Contracture↗

Effects of splinting in the treatment of hand contractures in progressive systemic sclerosis.

One of the major factors in the decreasing functional ability of patients with progressive systemic sclerosis is involvement of the patient's hands with secondary immobility and contractures. In a 2-month study of 19 patients, we assessed whether dynamic splinting could decrease proximal interphalangeal (PIP) flexion contractures. Of the eight patients who completed the study, one experienced a statistically significant improvement in PIP range of motion as a result of the splinting. There was no evidence that the use of the splints served to maintain PIP extension when compared with the control hand.

Contracture↗