Residual Muscle Function Research Articles

Walking Outcome After Traumatic Paraplegic Spinal Cord Injury: The Function of Which Myotomes Makes a Difference?

Background Accurate prediction of walking function after a traumatic spinal cord injury (SCI) is crucial for an appropriate tailoring and application of therapeutical interventions. Long-term outcome of ambulation is strongly related to residual muscle function acutely after injury and its recovery potential. The identification of the underlying determinants of ambulation, however, remains a challenging task in SCI, a neurological disorder presented with heterogeneous clinical manifestations and recovery trajectories. Objectives Stratification of walking function and determination of its most relevant underlying muscle functions based on stratified homogeneous patient subgroups. Methods Data from individuals with paraplegic SCI were used to develop a prediction-based stratification model, applying unbiased recursive partitioning conditional inference tree (URP–CTREE). The primary outcome was the 6-minute walk test at 6 months after injury. Standardized neurological assessments ≤15 days after injury were chosen as predictors. Resulting subgroups were incorporated into a subsequent node-specific analysis to attribute the role of individual lower extremity myotomes for the prognosis of walking function. Results Using URP–CTREE, the study group of 361 SCI patients was divided into 8 homogeneous subgroups. The node specific analysis uncovered that proximal myotomes L2 and L3 were driving factors for the differentiation between walkers and non-walkers. Distal myotomes L4–S1 were revealed to be responsible for the prognostic distinction of indoor and outdoor walkers (with and without aids). Conclusion Stratification of a heterogeneous population with paraplegic SCI into more homogeneous subgroups, combined with the identification of underlying muscle functions prospectively determining the walking outcome, enable potential benefit for application in clinical trials and practice.

Linking Prioritized Occupational Performance in Patients Undergoing Spasticity-Correcting Upper Limb Surgery to the International Classification of Functioning, Disability, and Health.

Background Spasticity is generally caused by damage to the spinal cord or the areas of the brain that controls movements, which poses significant limitations in occupational tasks. Objectives The aims of the study were to (I) describe prioritized occupational performance problems (POPP) among patients who underwent upper limb spasticity-correcting surgery and map them to the International Classification of Function, Disability, and Health (ICF); (II) assess outcomes postsurgery; (III) assess whether the results are influenced by the diagnosis, gender, and residual muscle function; and (IV) assess correlation between changes in COPM and gains in grasp ability and grip strength. Methods In this retrospective study, assessments occurred pre- and postsurgery, including the Canadian Occupational Performance Measure (COPM), grip strength, and grasp ability. POPP were transformed to prioritized occupational performance goals (POPG) during subsequent rehabilitation. Results 60 patients with a history of spinal cord injury (SCI) (n = 42; 59%), stroke (n = 25; 34%), traumatic brain injury (TBI) (n = 4; 6%), and reason unknown (n = 1; 1%) were included, with a mean age of 57 (±13) years. Of those, 11 had bilateral surgery, generating 71 COPM forms and 320 POPG. The POPG were mapped to the ICF activity and participation chapter, most often to self-care (n = 131; 41%), domestic life (n = 68; 21%), and mobility (n = 58; 18%). COPM scores were significantly increased postsurgery, irrespective of diagnosis, gender, and muscle function. No clear correlation between COPM improvement and hand function gains was shown. Conclusion Patients who underwent spasticity-correcting upper limb surgery identified difficulties with a wide range of occupational tasks that they considered as important to regain. Treatment-induced gains in occupational performance were significant but had no clear correlation with gains in grasp ability and hand strength. Independent of diagnosis, gender, and residual muscle function, it seems important to address the activity- and participation-specific aspects in the assessment and rehabilitation of patients.

Combined and Modified Gibson and Ilioinguinal Approaches in Type II + III Internal Hemipelvectomy for Periacetabular Tumors.

BackgroundThe routine iliofemoral approach and its modifications in type II+III resection require extensive skin incision and massive periacetabular muscle detachment, leading to prolonged hospital stay, increased complication incidence, and impaired lower limb function. Under the management of an enhanced recovery after surgery (ERAS) protocol, a combined and modified Gibson and ilioinguinal (MGMII) approach was used to avoid unnecessary soft tissue trauma during tumor resection and therefore advantageous to patients’ return to normal life.MethodsTwenty-five patients with type II + III (including type II) periacetabular tumors who underwent reconstruction with 3D printed customized endoprostheses at our center between January 2017 and March 2019 were included in this study. There were 13 cases using MGMII approach and 12 cases using iliofemoral approach. The operation duration and blood loss were assessed by chart review. The surgical margin was evaluated by the histopathological studies. The reconstruction accuracy, the abductor muscle strength, the 1993 version of the Musculoskeletal Tumor Society (MSTS-93), the Harris Hip scores (HHS), and the limp score were evaluated. Complications were recorded after reviewing the patients’ records.ResultsThe operative duration and blood loss in MGMII group were shorter than those in the iliofemoral group, but the postoperative hemoglobin was slightly higher than that in the iliofemoral group. The MGMII group had stronger postoperative hip abductors, better functional restoration, and relatively fewer patients with higher limp scores. No complication was observed in the MGMII group. In the iliofemoral group, three patients encountered wound healing delay, and one patient suffered deep infection.ConclusionsThe MGMII approach can better expose the posterior column of the acetabulum, especially the ischial tuberosity, which is beneficial for avoiding tumor rupture during resection. The MGMII approach also helps to preserve residual muscle function, such as the origin of the gluteus medius, while ensuring the extent of resection.

Energy Recuperation at the Hip Joint for Paraplegic Walking: Interaction Between Patient and Supportive Device.

For patients with lower limb paralysis, wearable robotic systems are becoming increasingly important for regaining mobility. The actuation of these systems is challenging because of the necessity to deliver high power within very limited space. However, not all patients need full support, as many patients have residual muscle function that can be applied for locomotion. This work introduces a microprocessor-controlled leg (hip-knee-ankle-foot) orthosis (mpLeg) with energy recuperation capabilities at the hip joint. The system redistributes motion energy generated by the patient during walking. In stance phase of walking, energy is stored in an elastic element at the hip joint. This energy can be released by computer control later in the gait phase, to support swing phase motion. This work aims at investigating the influence of the elastic element in the orthotic hip joint on a patient's motion. Experiments conducted with a patient suffering from incomplete paraplegia demonstrated that the motion pattern during walking improved with activated energy recuperation. This observation was made over a wide range of system parameters. The patient used the energy recuperation capabilities of the mpLeg with up to 4.1 J recuperated energy per step, which resulted in a more natural swing phase motion during walking. Therefore energy recuperation at the hip joint is a feasible technology for future supportive devices.

A closed-loop hand prosthesis with simultaneous intraneural tactile and position feedback.

Current myoelectric prostheses allow transradial amputees to regain voluntary motor control of their artificial limb by exploiting residual muscle function in the forearm. However, the overreliance on visual cues resulting from a lack of sensory feedback is a common complaint. Recently, several groups have provided tactile feedback in upper limb amputees using implanted electrodes, surface nerve stimulation, or sensory substitution. These approaches have led to improved function and prosthesis embodiment. Nevertheless, the provided information remains limited to a subset of the rich sensory cues available to healthy individuals. More specifically, proprioception, the sense of limb position and movement, is predominantly absent from current systems. Here, we show that sensory substitution based on intraneural stimulation can deliver position feedback in real time and in conjunction with somatotopic tactile feedback. This approach allowed two transradial amputees to regain high and close-to-natural remapped proprioceptive acuity, with a median joint angle reproduction precision of 9.1° and a median threshold to detection of passive movements of 9.5°, which was comparable with results obtained in healthy participants. The simultaneous delivery of position information and somatotopic tactile feedback allowed both amputees to discriminate the size and compliance of four objects with high levels of performance (75.5%). These results demonstrate that tactile information delivered via somatotopic neural stimulation and position information delivered via sensory substitution can be exploited simultaneously and efficiently by transradial amputees. This study paves a way to more sophisticated bidirectional bionic limbs conveying richer, multimodal sensations.

What influences contracture formation in lower motor neuron disorders, severity of denervation or residual muscle function? An analysis of the elbow contracture in 100 children with unilateral Brachial Plexus Birth Injury.

:PurposeAs in other neuromuscular disorders, both denervation and muscle paresis/imbalance are implicated as aetiological factors for contractures in children with a Brachial Plexus Birth Injury (BPBI). Although both factors are related, it is unclear which factor is dominant. The aim of this study is to assess whether contracture formation in children is predominantly related to denervation or to residual muscle function/imbalance. This might be relevant for understanding contracture formation in other neuromuscular disorders.MethodsA total of 100 children (61 boys; mean age 10.4 years, 4 to 18) with unilateral BPBI were included in this cross-sectional study. Severity of the denervation was classified according to Narakas. Muscle function of flexors and extensors of both elbows was measured (in Newtons) using a hand-held dynamometer and flexion contractures were measured with a goniometer. The relation between denervation, muscle function/muscle balance and flexion contracture was assessed using univariate and multivariate analysis.ResultsOf the children, 57 were Narakas class I, 13 class II and 30 class III. Mean flexion contracture was 25° (90° to −5°). At the affected side the forearm flexion force was 47% and extension force was 67% of the force of the unaffected side. Contractures were more severe in children with higher Narakas classifications (p = 0.001), after neurosurgery (Mann-Whitney U test, p = 0.009) and were related to age (Spearman’s Rho = −0.3, p = 0.008) and to paresis of the extensors (Rho = 0.4, p = 0.000). Flexor paresis as a percentage of unaffected side (Rho = 0.06, p = 0.6) and muscle balance had no influence.ConclusionIn BPBI, elbow contractures are related to the severity of the neurological lesion, not to residual muscle function.Level of evidenceLevel II – prognostic study

An sEMG-based Interface to give People with Severe Muscular Atrophy control over Assistive Devices.

Injuries, accidents, strokes, and other diseases can significantly degrade the capabilities to perform even the most simple activities in daily life. While assistive technology becomes more and more available to the people affected, there is still a big need for user interfaces suitable for people without functional hand movement. A large share of these cases involves neuromuscular diseases, which lead to severely reduced muscle function. However, even though affected people are no longer able to functionally move their limbs, residual muscle function can still be existent. Previous work has shown that this residual muscular activity can suffice, to create an EMG-based user interface, and e.g., allow for control of assistive devices. In this paper, we enhance this user interface with additional EMG-features and an improved training paradigm in order to increase information extraction from recordings of strongly atrophic muscles. The interface was tested and validated by subjects with severe spinal muscular atrophy. Results show that the used methods improve the decoding and thereby allow for a considerable increase in performance when controlling a robotic manipulator in a 3D reaching task.

Surgical Management of Ophthalmoplegia

ABSTRACTSurgical management—depending upon the severity of the ophthalmoplegia—ranges from restorative to palliative. In paresis with reasonable residual muscle function and ductions, the goal of the surgery is not only to restore single vision in primary position but also to provide a relatively normal field of single binocular vision. With complete paralysis of a single muscle or more than one muscle served by a single cranial nerve (third), in addition to conventional recess or resect surgery, the transposition of still-functioning muscles is often needed to obtain a durable result and restore at least some field of single binocular vision. In complete ophthalmoplegia, the benefits of the surgery are limited; but even in these cases, surgery can often reduce the need for an awkward head posture and improve appearance.

P.226 - Late-onset limb-girdle myopathy with oculobulbar signs and rimmed vacuoles associated with a novel Pompe disease mutation

Pompe disease (PD) is an autosomal recessive lysosomal storage disorder caused by acid alfa-glucosidase (GAA) deficiency. Late-onset phenotype is heterogeneous, and it may include ptosis and/or bulbar weakness. Since 2006 enzyme replacement therapy with alglucosidase alfa has become available with the best benefit depending on residual muscle function. Therefore, its prompt diagnosis has become more noteworthy. We describe a 50-year-old Portuguese woman, which presented with slowly progressive speech slurring and limb-girdle muscle weakness for the previous 25 years. In the last 10 years she also complained of progressive left eyelid drop. No diplopia or dysphagia was present. There was no fatigability or diurnal fluctuation in symptoms. Her medical and familial history was unremarkable. Neurological examination disclosed left ptosis, moderate tongue atrophy and weakness, slight dysarthria and severe limb-girdle muscle weakness. A mildly restrictive respiratory pattern was disclosed on pulmonary function tests. There was no heart involvement. Nerve conduction studies were normal. Needle electromyography disclosed myopathic potentials associated with fibrillation potentials and positive sharp waves. Repetitive nerve stimulation was unremarkable. Serum creatine kinase was mildly elevated (648–881 UI/L). Muscle biopsy showed myopathic changes with some rimmed vacuoles. There was no excessive glycogen accumulation seen with PAS and by electron microscopy (EM). There were no filament inclusions under EM. A reduced GAA enzyme activity (1.58 pmol/h/punction; normal >4.51) was disclosed on dried blood spot analysis. Sequence analysis of the GAA gene revealed a novel pathological mutation in compound heterozygosity [c.-32-13T > G/c.2319C > G(p.Y773*)]. Six months after enzyme replacement therapy, ptosis improved and respiratory function remained stable. This case highlights the need for a high index of suspicion for PD in adult patients with unexplained oculobulbar and limb-girdle muscle weakness, even if the muscle biopsy features are completely atypical.

Semitendinosus Tendon for ACL Reconstruction: Regrowth and Mechanical Property Recovery.

Background:Semitendinosus/gracilis (STG) tendon autograft has been used effectively for restoring knee stability after anterior cruciate ligament (ACL) rupture. Though ACL reconstruction with STG autograft is an effective surgical technique for return to sports, short-term hamstring strength asymmetries exist after surgery. Although imaging evidence has demonstrated regrowth and reorganization of the semitendinosus (ST) tendon, no studies show whether the regrowth is associated with residual muscle function. Continuous shear wave elastography (cSWE) using an external actuator and high–frame rate ultrasound is a promising technique for evaluating the mechanical properties of regrown tendons in vivo.Purpose:To demonstrate recovery of the mechanical properties of the hamstring tendons after ACL reconstruction using an STG tendon autograft.Study Design:Case series; Level of evidence, 4.Methods:Thirteen patients underwent an STG autograft reconstruction after ACL rupture. Regrowth of the ST tendon was confirmed via b-mode ultrasound between 6 and 24 months postreconstruction. The shear elastic (µ 1) and viscosity moduli (µ 2) of the ST tendons were ascertained through cSWE using an external actuator and high–frame rate ultrasound.Results:Significant differences in both shear elastic (129.4 vs 73.0 kPa) and viscous moduli (192.6 vs 114.3 Pa·s) existed bilaterally for uninvolved and involved limbs, respectively. Additionally, a positive correlation between time postoperative and shear elasticity was observed (r = 0.60). More than 12 months were required for patients to regain a large percentage of the tendon’s mechanical properties compared with the contralateral side (µ 1, 80.6% at >12 months vs 39.9%; µ 2, 78.7% at >12 months vs 46.0%).Conclusion:The imaging and elastography data demonstrate tendon regrowth and recovery of functional biomechanical properties with time. The elastic modulus of the recovered tendon indicates the ability to transmit muscle force across the joint and recovery of semitendinosus function after its use for an ACL graft.

Elbow Flexion Contractures in Childhood in Obstetric Brachial Plexus Lesions: A Longitudinal Study of 20 Neurosurgically Reconstructed Infants with 8-Year Follow-up.

Little knowledge exists on the development of elbow flexion contractures in children with obstetrical brachial plexus lesion (OBPL). This study aims to evaluate the prognostic significance of several neuromuscular parameters in infants with OBPL regarding the later development of elbow flexion contractures. Twenty infants with OBPL with insufficient signs of recovery in the first months of life who were neurosurgically reconstructed were included. At a mean age of 4.6 months, the following neuromuscular parameters were assessed: existence of flexion contractures, cross-sectional area (CSA) of upper arm muscles on MRI, Narakas classification, EMG results, and elbow muscle function using the Gilbert score. In childhood at follow-up at mean age of 7.7 years, we measured the amount of flexion contractures and the upper arm peak force (Newton). Statistical analysis is used to assess relations between these parameters. Flexion contractures of greater than 10 degrees occurred in 55% of our patient group. The relation between the parameters in infancy and the flexion contractures in childhood is almost nonexistent. Only the Narakas classification was related to the development of flexion contractures in childhood (p = 0.006). Infant muscle CSA is related to childhood peak muscle force. The role of infancy upper arm muscle hypotrophy/hypertrophy, reinnervation, and early elbow muscle function in the development of childhood elbow contractures remains unclear. In this cohort prediction of childhood flexion, contractures were not possible using infancy neuromuscular parameters. We suggest that contractures might be an adaptive process to optimize residual muscle function.

Treatment of ocular motor palsies.

The management of ocular motor palsies first requires careful determination of the etiology. Possibilities include ischemia, inflammation, infection, trauma, compression, or congenital. Prognosis for recovery varies greatly between etiologies; hence, determination of the underlying process is crucial in the short- and long-term management of these patients. Naturally, our ultimate goal is to improve visual function as much as possible. A guiding principle in the initial management of ocular motor palsies is to improve patient comfort and visual function by eliminating diplopia in primary position while clinically observing the patient for improvement or stability. Offering a definitive treatment which creates the largest possible zone of binocular single vision in primary and reading positions can be undertaken once stability has been demonstrated. In the initial phase after an acute ocular motor palsy has occurred, occlusion of an eye can be used to eliminate diplopia. Options include a patch or applying translucent or satin tape to one of the lenses which prevents diplopia but still lets light through. Alternatively, prismatic correction placed on or ground into spectacles may improve function and restore binocularity in patients with temporary or permanent ocular deviations. This is generally effective for patients with up to 20 to 25 prism diopters (PD) of horizontal misalignment and 10 to 15 PD of vertical. Once a stable misalignment has been demonstrated (several months), a variety of surgical options exist. Use of adjustable sutures, improved suture materials, and surgical techniques has expanded the role and scope of surgery for these patients. Planning the surgical approach is based on residual extraocular muscle function, careful measurements, and assessment of patient expectations.

Evaluation of bone mineral density and bone/muscle geometry using pQCT in children after spinal cord injury

Spinal cord injury (SCI) is associated with a reduction in bone mineral density (BMD) and increasedbone fragility. This study aimed to quantify regional changes in bone mineral density and bone/muscle geometry in children following SCI using Peripheral Quantitative Computer Tomography (pQCT). A retrospective cohort study of 19 patients (10 males and 9 females) with SCI was undertaken. The group comprised 9 paraplegics (6 complete, 3 incomplete) and 10 tetraplegics (5 complete, 5 incomplete). The mean age at SCI was 6.6 years. pQCT assessment was performed at a mean of 5.7 years post SCI. A total of 7 patients also had serial scans performed: The first at a mean of 7.6 years and the second at a mean of 10.7 years post SCI. Reduced bone mass following SCI was regional. Lower limb involvement was universal and upper limb involvement was only seen in association with tetraplegia (Table ​(Table1).1). There was a significant loss of muscle cross sectional area in the calves.Analysis of serial pQCT data revealed a further reduction in trabecular volumetric bone mineral density (vBMD) Z-scores between 7.6 and 10.7 years post SCI, while cortical vBMD did not change.Incomplete paraplegics and tetraplegics, who were able to stand, had greater trabecular vBMD, cortical bone mineral content and cortical thickness tibial Z-scores than those with a complete SCI. Table 1 pQCT data of tibial and radial Z-scoresat 4% and 66% sites pQCT provides a valuable insight into the regional changes in bone and muscle development in children following SCI. Residual muscle function with the ability to weight bear, even if only in a frame, provides a significant benefit to bone development.

Evaluation of bone mineral density and morphology using pQCT in children after spinal cord injury

Objective: To evaluate the effects of spinal cord injury (SCI) on bone density and morphology in children using peripheral quantitative computer tomography (pQCT).Design: Retrospective cohort study of 19 paediatric patients with SCI (9 paraplegics and 10 tetraplegics).Results: There was significant reduction in tibial metaphysial volumetric bone mineral density (vBMD), diaphysial cortical cross-sectional area (CSA), cortical thickness and polar strength–strain index. There was a significant loss of calf muscle CSA. Those who were able to stand had greater trabecular vBMD, tibial cortical thickness and tibial muscle CSA Z-scores. Lower limb fractures did not occur if tibial trabecular vBMD was greater than 100 mg/cm3. Tibial geometry following SCI was more circular compared to controls.Conclusions: pQCT provides a valuable insight into the regional changes in bone and muscle development in children following SCI. Residual muscle function with the ability to weight bear provides a significant benefit to bone development.

Musculoskeletal growth in the upper arm in infants after obstetric brachial plexus lesions and its relation with residual muscle function

Denervation after obstetric brachial plexus lesion (OBPL) is associated with reduced musculoskeletal growth in the upper arm. The aim of this study was to investigate whether reduced growth of upper arm flexor and extensor muscles is related to active elbow function and humeral length. In this study, 31 infants age less than 6 months (mean age 4.3mo; range 2.1-5.9mo; 17 males; 14 females;) with unilateral OBPL (Narakas class I, 19; II, 3; III, 2; and IV, 7) treated at the VU medical centre, in whom neurosurgical reconstruction was considered were prospectively studied using magnetic resonance imaging of both arms at a mean age of 4.3 months. Humeral length and the cross-sectional area (CSA) of elbow flexor and extensor muscles were measured in both upper arms. Paresis of elbow function was estimated when the infants were a mean age of 4.5 months using the Gilbert score. Both flexor and extensor CSAs were significantly smaller on the affected side than on the unaffected side (88% [SD 32%], p=0.020, and 88% [SD 24%], p=0.001 respectively), as was humeral length (96% [SD 7%], p=0.005) (unaffected side 100% in all cases). There was no relation between the reduction in flexor and extensor CSA and residual muscle function. In 17 out of 31 patients, hypertrophy of flexor and/or extensor muscles was observed. Humeral length was not related to muscle parameters. Denervation has different effects on muscle growth and function as well as bone growth. In young infants with an OBPL, muscle size is not a predictor of muscle function. Flexion contractures of the elbow later in childhood may not be explained by a dominance of flexor muscle mass in infants.

Spinal muscular atrophy: diagnosis, treatment and future prospects

To report on recent genetic and molecular discoveries and on future prospects for the treatment of spinal muscular atrophy (SMA), thereby helping healthcare professionals to make a quick diagnosis and provide appropriate and timely therapeutic support. Information was collected from scientific articles published in the last 2 decades, retrieved from the databases SciELO, PubMed, and MEDLINE. SMA is a neurodegenerative disorder with autosomal recessive genetic heredity. It is caused by a homozygous deletion of the survival motor neuron (SMN1) gene. This genetic alteration results in reduced levels of the SMN protein, leading to degeneration of alpha motor neurons of the spinal cord and resulting in muscle weakness and progressive symmetrical proximal paralysis. It is known that basic nutritional and respiratory care and physiotherapy can be important to delaying disease progression and prolonging patients' lives. Several drugs are being tested, some new, others, such as valproic acid, already known; paralysis can be halted, but not reversed. SMA is a difficult to diagnose disorder, because it is little known, and treatment is uncertain. Pharmacological treatments and supportive therapies are not yet able to recover motor neurons or muscle cells that have already been lost, but are aimed at delaying disease progression and improving patients' residual muscle function, as well as offering better quality of life and life expectancy.

Atrofia muscular espinhal: diagnóstico, tratamento e perspectivas futuras

OBJETIVO: Relatar as recentes descobertas geneticas e moleculares, juntamente com as perspectivas futuras, para o tratamento da atrofia muscular espinhal, auxiliando, dessa forma, os profissionais da area da saude a fazerem um rapido diagnostico e proporcionarem um suporte terapeutico correto e precoce. FONTES DOS DADOS: As informacoes foram coletadas a partir de artigos cientificos publicados nas duas ultimas decadas, pesquisados nas bases de dados SciELO, PubMed e MEDLINE. SINTESE DOS DADOS: A atrofia muscular espinhal e uma doenca neurodegenerativa com heranca genetica autossomica recessiva. E causada por uma delecao homozigotica do gene de sobrevivencia do motoneuronio. Essa alteracao genetica resulta na reducao dos niveis da proteina de sobrevivencia do motoneuronio, levando a degeneracao de motoneuronios alfa da medula espinhal, o que resulta em fraqueza e paralisia muscular proximal progressiva simetrica. Sabe-se que alguns cuidados basicos referentes a nutricao, respiracao e fisioterapia podem ser importantes para retardar o progresso da doenca e prolongar a vida dos pacientes. Varios medicamentos estao sendo testados, alguns novos, outros ja conhecidos, como o acido valproico, sendo que a paralisia pode ser estacionada, mas nao revertida. CONCLUSOES: A atrofia muscular espinhal e uma desordem de dificil diagnostico, por ser pouco conhecida, e de tratamento ainda incerto. Os tratamentos farmacologicos e as terapias de suporte existentes ainda nao sao capazes de recuperar os motoneuronios ou as celulas musculares que ja foram perdidos, mas tem o objetivo de retardar o progresso da doenca e melhorar a funcao muscular residual dos pacientes, bem como oferecer uma melhor qualidade e expectativa de vida.

Traumatic Rupture of the Superior Oblique Muscle Tendon Resulting in Acquired Brown's Syndrome

Traumatic rupture of the superior oblique tendon is a rare cause of acquired Brown's syndrome. This report describes a case of traumatic rupture of the superior oblique tendon, distal to the trochlea, after injury with a plant hook. The ruptured tendon was reapproximated. Postoperatively, asymptomatic Brown's syndrome developed, although residual function of the superior oblique muscle was retained. Full-thickness upper eyelid lacerations, especially those caused by a hook, must be explored carefully to exclude superior oblique tendon rupture. Careful reapproximation of the tendon can result in residual muscle function.

Tendon elongation and muscle function after repair of Achilles tendon rupture

Thirty-four recreational atlethes with a mean age of 40 years were operated for a fresh subcutaneous rupture of the Achilles tendon with an approximating suture of the tendon in combination with 8 weeks in an equinus below-knee plaster. The elongation of the tendon during the rehabilitation was measured radiographically with implanted steel-wire indicators. The residual muscle function and the range of motion were recorded 1 year after the operation in 30 of the patients. There was no change in the passive range of motion and no elongation of the tendon during the primary healing period. The muscle function, measured with a special dynamic step test, was significantly impaired compared with the healthy side. Although the function was reduced in 17% of the patients, there was no subjective discomfort.

Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk.

Objective. Recent reports warn that the worldwide cell culture capacity is insufficient to fulfill the increasing demand for human protein drugs. Produc- tion in milk of transgenic animals is an attractive alter- native. Kilogram quantities of product per year can be obtained at relatively low costs, even in small animals such as rabbits. We tested the long-term safety and effi- cacy of recombinant human -glucosidase (rhAGLU) from rabbit milk for the treatment of the lysosomal stor- age disorder Pompe disease. The disease occurs with an estimated frequency of 1 in 40 000 and is designated as orphan disease. The classic infantile form leads to death at a median age of 6 to 8 months and is diagnosed by absence of -glucosidase activity and presence of fully deleterious mutations in the -glucosidase gene. Cardiac hypertrophy is characteristically present. Loss of muscle strength prevents infants from achieving developmental milestones such as sitting, standing, and walking. Milder forms of the disease are associated with less severe mu- tations and partial deficiency of -glucosidase. Methods. In the beginning of 1999, 4 critically ill pa- tients with infantile Pompe disease (2.5- 8 months of age) were enrolled in a single-center open-label study and treated intravenously with rhAGLU in a dose of 15 to 40 mg/kg/week. Results. Genotypes of patients were consistent with the most severe form of Pompe disease. Additional mo- lecular analysis failed to detect processed forms of -glu- cosidase (95, 76, and 70 kDa) in 3 of the 4 patients and revealed only a trace amount of the 95-kDa biosynthetic intermediate form in the fourth (patient 1). With the more sensitive detection method, 35S-methionine incorpora-