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1.  Surgical treatment of Duchenne muscular dystrophy patients in Germany: the present situation 
Acta Myologica  2012;31(1):21-23.
In 1988, we familiarised ourselves at Poitiers with the concept of operative treatment of the lower limbs and the spine in Duchenne muscular dystrophy (DMD) patients which Yves Rideau and his collaborators (1, 2) had developed there in the early 1980s. Thereupon, we immediately established the techniques at our home universities, first at the Technische Universität Aachen and, from 1999 on, at the Universitätsklinikum Erlangen, Germany. Since then, we have applied the technique to more than 500 DMD patients in total by performing more than 800 operations on the lower limbs and/or spine. In support of findings reported by Professor Rideau in this issue (3) we observed that, where patients are still ambulatory at the time of operation, the operation delays the point at which patients become wheelchair-bound by about two years. Likewise, patients receiving this treatment were/are also able to perform the Gowers' manoeuvre for around two years longer (4-6).
PMCID: PMC3440800  PMID: 22655513
Duchenne muscular dystrophy; prophylactic surgery; prevention of scoliosis
2.  Evidence-based pain management: is the concept of integrative medicine applicable? 
The EPMA Journal  2012;3(1):13.
This article is dedicated to the concept of predictive, preventive, and personalized (integrative) medicine beneficial and applicable to advance pain management, overviews recent insights, and discusses novel minimally invasive tools, performed under ultrasound guidance, enhanced by model-guided approach in the field of musculoskeletal pain and neuromuscular diseases. The complexity of pain emergence and regression demands intellectual-, image-guided techniques personally specified to the patient. For personalized approach, the combination of the modalities of ultrasound, EMG, MRI, PET, and SPECT gives new opportunities to experimental and clinical studies. Neuromuscular imaging should be crucial for emergence of studies concerning advanced neuroimaging technologies to predict movement disorders, postural imbalance with integrated application of imaging, and functional modalities for rehabilitation and pain management. Scientific results should initiate evidence-based preventive movement programs in sport medicine rehabilitation. Traditional medicine and mathematical analytical approaches and education challenges are discussed in this review. The physiological management of exactly assessed pathological condition, particularly in movement disorders, requires participative medical approach to gain harmonized and sustainable effect.
doi:10.1186/1878-5085-3-13
PMCID: PMC3533862  PMID: 23088743
Predictive; Preventive, and Personalized medicine; Participating medicine; Myofascial pain; Pain therapy; Acupuncture; Dry needling; Ultrasound; Neurophysiology study
3.  Effectiveness of teleassistance on the improvement of health related quality of life in people with neuromuscular diseases 
Background
Neuromuscular diseases are a group of pathologies characterized by the progressive loss of muscular strength, atrophy or hypertrophy, fatigue, muscle pain and degeneration of the muscles and the nerves controlling them (The French Muscular Dystrophy Association, 2004). Perceived isolation and health related quality of life are affected in the majority of cases due to the illness chronicity. Internet, and in this way, the use of chat and videoconferencing programs, is an alternative option to mitigate the mentioned variables.
Aim
The aim of the study is to assess the effectiveness of teleassistance on reducing isolation and improving health related quality of life in adults with neuromuscular diseases.
Methods
The sample is composed of 60 participants randomly selected and affected by different neuromuscular diseases (e.g. Myasthenia Gravis, Becker Muscular Dystrophy, Facioescapulohumeral Muscular Dystrophy, etc.). Thirty patients were assigned to the experimental group, which participated in the chat and videoconferencing sessions, and the other thirty to the control group, which did not participate. The inclusion criteria for both groups were: medical confirmed diagnosis (CIE-10) of one of the diseases mentioned above, age ≥18 years, agreeing to participate in the study by signing an informed consent, and finally, ability to manipulate a computer (just for the experimental group). The exclusion criteria for both groups were to have a psychiatric disorder (DSM-IV-TR), head trauma or severe visual limitations. All the patients were recruited from neuromuscular disorders associations and Hospitals of The Basque Country. Effectiveness were assessed by a pre-post design in which questionnaires and interviews were administrated (e.g. Disability Assessment Schedule—WHO-DAS II, Sickness Impact Profile, The MOS Social Support Survey, etc.). The online support entails different activities developed during three months in once a week sessions: a) Group videoconference sessions with a Psychologist, b) Individual videoconference sessions with a Neurologist, and c) Forum discussion groups about biopsychosocial issues. The psychologist counseling consists on a psychosocial program about general topics such as illness information, emotional reactions to the disease, the most frequently automatic thoughts, etc. A web site was developed to carry out the intervention: http://neuromusculares.deusto.es/. An exhaustive preliminary analysis of this pre-post assessment is necessary in order to know if the psychosocial programme is effective and if it could be a helpful tool for this type of population.
Results
Preliminary results will be presented in order to confirm if teleassistance is an effective alternative way of advising people with neuromuscular disorders.
PMCID: PMC3571156
teleassistance; online support; neuromuscular disease; isolation; quality of life
4.  Measuring health-related quality of life in tuberculosis: a systematic review 
Introduction
Tuberculosis remains a major public health problem worldwide. In recent years, increasing efforts have been dedicated to assessing the health-related quality of life experienced by people infected with tuberculosis. The objectives of this study were to better understand the impact of tuberculosis and its treatment on people's quality of life, and to review quality of life instruments used in current tuberculosis research.
Methods
A systematic literature search from 1981 to 2008 was performed through a number of electronic databases as well as a manual search. Eligible studies assessed multi-dimensional quality of life in people with tuberculosis disease or infection using standardized instruments. Results of the included studies were summarized qualitatively.
Results
Twelve original studies met our criteria for inclusion. A wide range of quality of life instruments were involved, and the Short-Form 36 was most commonly used. A validated tuberculosis-specific quality of life instrument was not located. The findings showed that tuberculosis had a substantial and encompassing impact on patients' quality of life. Overall, the anti-tuberculosis treatment had a positive effect of improving patients' quality of life; their physical health tended to recover more quickly than the mental well-being. However, after the patients successfully completed treatment and were microbiologically 'cured', their quality of life remained significantly worse than the general population.
Conclusion
Tuberculosis has substantially adverse impacts on patients' quality of life, which persist after microbiological 'cure'. A variety of instruments were used to assess quality of life in tuberculosis and there has been no well-established tuberculosis-specific instrument, making it difficult to fully understand the impact of the illness.
doi:10.1186/1477-7525-7-14
PMCID: PMC2651863  PMID: 19224645
5.  Invasive home mechanical ventilation, mainly focused on neuromuscular disorders 
Introduction and background
Invasive home mechanical ventilation is used for patients with chronic respiratory insufficiency. This elaborate and technology-dependent ventilation is carried out via an artificial airway (tracheal cannula) to the trachea. Exact numbers about the incidence of home mechanical ventilation are not available. Patients with neuromuscular diseases represent a large portion of it.
Research questions
Specific research questions are formulated and answered concerning the dimensions of medicine/nursing, economics, social, ethical and legal aspects. Beyond the technical aspect of the invasive home, mechanical ventilation, medical questions also deal with the patient’s symptoms and clinical signs as well as the frequency of complications. Economic questions pertain to the composition of costs and the differences to other ways of homecare concerning costs and quality of care. Questions regarding social aspects consider the health-related quality of life of patients and caregivers. Additionally, the ethical aspects connected to the decision of home mechanical ventilation are viewed. Finally, legal aspects of financing invasive home mechanical ventilation are discussed.
Methods
Based on a systematic literature search in 2008 in a total of 31 relevant databases current literature is viewed and selected by means of fixed criteria. Randomized controlled studies, systematic reviews and HTA reports (health technology assessment), clinical studies with patient numbers above ten, health-economic evaluations, primary studies with particular cost analyses and quality-of-life studies related to the research questions are included in the analysis.
Results and discussion
Invasive mechanical ventilation may improve symptoms of hypoventilation, as the analysis of the literature shows. An increase in life expectancy is likely, but for ethical reasons it is not confirmed by premium-quality studies. Complications (e. g. pneumonia) are rare. Mobile home ventilators are available for the implementation of the ventilation. Their technical performance however, differs regrettably.
Studies comparing the economic aspects of ventilation in a hospital to outpatient ventilation, describe home ventilation as a more cost-effective alternative to in-patient care in an intensive care unit, however, more expensive in comparison to a noninvasive (via mask) ventilation. Higher expenses arise due to the necessary equipment and the high expenditure of time for the partial 24-hour care of the affected patients through highly qualified personnel. However, none of the studies applies to the German provisionary conditions. The calculated costs strongly depend on national medical fees and wages of caregivers, which barely allows a transmission of the results.
The results of quality-of-life studies are mostly qualitative. The patient’s quality of life using mechanical ventilation is predominantly considered well. Caregivers of ventilated patients report positive as well as negative ratings. Regarding the ethical questions, it was researched which aspects of ventilation implementation will have to be considered.
From a legal point of view the financing of home ventilation, especially invasive mechanical ventilation, requiring specialised technical nursing is regulated in the code of social law (Sozialgesetzbuch V). The absorption of costs is distributed to different insurance carriers, who often, due to cost pressures within the health care system, insurance carriers, who consider others and not themselves as responsible. Therefore in practice, the necessity to enforce a claim of cost absorption often arises in order to exercise the basic right of free choice of location.
Conclusion
Positive effects of the invasive mechanical ventilation (overall survival and symptomatic) are highly probable based on the analysed literature, although with a low level of evidence. An establishment of a home ventilation registry and health care research to ascertain valid data to improve outpatient structures is necessary. Gathering specific German data is needed to adequately depict the national concepts of provision and reimbursement. A differentiation of the cost structure according to the type of chosen outpatient care is currently not possible. There is no existing literature concerning the difference of life quality depending on the chosen outpatient care (homecare, assisted living, or in a nursing home specialised in invasive home ventilation). Further research is required.
For a so called participative decision – made by the patient after intense counselling – an early and honest patient education pro respectively contra invasive mechanical ventilation is needed. Besides the long term survival, the quality of life and individual, social and religious aspects have also to be considered.
doi:10.3205/hta000086
PMCID: PMC3010883  PMID: 21289881
home ventilation; invasive ventilation; extra-clinical ventilation; mechanical ventilation; neuromuscular disease; respiratory insufficience; vital capacity; Health Technology Assessment; HTA; economic analysis; ethics; psychologic pressure; quality of life; health related quality of life
6.  Proximal spinal muscular atrophy: current orthopedic perspective 
Spinal muscular atrophy (SMA) is a hereditary neuromuscular disease of lower motor neurons that is caused by a defective “survival motor neuron” (SMN) protein that is mainly associated with proximal progressive muscle weakness and atrophy. Although SMA involves a wide range of disease severity and a high mortality and morbidity rate, recent advances in multidisciplinary supportive care have enhanced quality of life and life expectancy. Active research for possible treatment options has become possible since the disease-causing gene defect was identified in 1995. Nevertheless, a causal therapy is not available at present, and therapeutic management of SMA remains challenging; the prolonged survival is increasing, especially orthopedic, respiratory and nutritive problems. This review focuses on orthopedic management of the disease, with discussion of key aspects that include scoliosis, muscular contractures, hip joint disorders, fractures, technical devices, and a comparative approach of conservative and surgical treatment. Also emphasized are associated complications including respiratory involvement, perioperative care and anesthesia, nutrition problems, and rehabilitation. The SMA disease course can be greatly improved with adequate therapy with established orthopedic procedures in a multidisciplinary therapeutic approach.
doi:10.2147/TACG.S53615
PMCID: PMC3876556  PMID: 24399883
spinal muscular atrophy; scoliosis; contractures; fractures; lung function; treatment; rehabilitation; surgery; ventilation; nutrition; perioperative management
7.  Physiological and neurophysiological determinants of postcancer fatigue: design of a randomized controlled trial 
BMC Cancer  2012;12:256.
Background
Postcancer fatigue is a frequently occurring, severe, and invalidating problem, impairing quality of life. Although it is possible to effectively treat postcancer fatigue with cognitive behaviour therapy, the nature of the underlying (neuro)physiology of postcancer fatigue remains unclear. Physiological aspects of fatigue include peripheral fatigue, originating in muscle or the neuromuscular junction; central fatigue, originating in nerves, spinal cord, and brain; and physical deconditioning, resulting from a decreased cardiopulmonary function. Studies on physiological aspects of postcancer fatigue mainly concentrate on deconditioning. Peripheral and central fatigue and brain morphology and function have been studied for patients with fatigue in the context of chronic fatigue syndrome and neuromuscular diseases and show several characteristic differences with healthy controls.
Methods/design
Fifty seven severely fatigued and 21 non-fatigued cancer survivors will be recruited from the Radboud University Nijmegen Medical Centre. Participants should have completed treatment of a malignant, solid tumour minimal one year earlier and should have no evidence of disease recurrence. Severely fatigued patients are randomly assigned to either the intervention condition (cognitive behaviour therapy) or the waiting list condition (start cognitive behaviour therapy after 6 months). All participants are assessed at baseline and the severely fatigued patients also after 6 months follow-up (at the end of cognitive behaviour therapy or waiting list). Primary outcome measures are fatigue severity, central and peripheral fatigue, brain morphology and function, and physical condition and activity.
Discussion
This study will be the first randomized controlled trial that characterizes (neuro)physiological factors of fatigue in disease-free cancer survivors and evaluates to which extent these factors can be influenced by cognitive behaviour therapy. The results of this study are not only essential for a theoretical understanding of this invalidating condition, but also for providing an objective biological marker for fatigue that could support the diagnosis and follow-up of treatment.
Trial registration
The study is registered at http://ClinicalTrials.gov (NCT01096641).
doi:10.1186/1471-2407-12-256
PMCID: PMC3418177  PMID: 22708881
Postcancer fatigue; Cognitive behaviour therapy; Peripheral fatigue; Central fatigue; Brain morphology; Brain metabolism; Physical condition; Physical activity
8.  Exercise Training Reverses Skeletal Muscle Atrophy in an Experimental Model of VCP Disease 
PLoS ONE  2013;8(10):e76187.
Background
The therapeutic effects of exercise resistance and endurance training in the alleviation of muscle hypertrophy/atrophy should be considered in the management of patients with advanced neuromuscular diseases. Patients with progressive neuromuscular diseases often experience muscle weakness, which negatively impact independence and quality of life levels. Mutations in the valosin containing protein (VCP) gene lead to Inclusion body myopathy associated with Paget's disease of bone and frontotemporal dementia (IBMPFD) and more recently affect 2% of amyotrophic lateral sclerosis (ALS)-diagnosed cases.
Methods/Principle Findings
The present investigation was undertaken to examine the effects of uphill and downhill exercise training on muscle histopathology and the autophagy cascade in an experimental VCP mouse model carrying the R155H mutation. Progressive uphill exercise in VCPR155H/+ mice revealed significant improvement in muscle strength and performance by grip strength and Rotarod analyses when compared to the sedentary mice. In contrast, mice exercised to run downhill did not show any significant improvement. Histologically, the uphill exercised VCPR155H/+ mice displayed an improvement in muscle atrophy, and decreased expression levels of ubiquitin, P62/SQSTM1, LC3I/II, and TDP-43 autophagy markers, suggesting an alleviation of disease-induced myopathy phenotypes. There was also an improvement in the Paget-like phenotype.
Conclusions
Collectively, our data highlights that uphill exercise training in VCPR155H/+ mice did not have any detrimental value to the function of muscle, and may offer effective therapeutic options for patients with VCP-associated diseases.
doi:10.1371/journal.pone.0076187
PMCID: PMC3794032  PMID: 24130765
9.  THE ROLE OF THE NEUROMUSCULAR MEDICINE SPECIALIST AND PHYSIATRY IN THE MANAGEMENT OF NEUROMUSCULAR DISEASE 
Synopsis
The neuromuscular medicine, and physiatry specialists are key health care providers who work cooperatively with a multidisciplinary team to provide coordinated care for persons with Neuromuscular diseases (NMDs). The director or coordinator of the team must be aware of the potential issues specific to NMDs and be able to access the interventions that are the foundations for proper care in NMD. These include health maintenance and proper monitoring of disease progression and complications to provide anticipatory, preventive care and optimum management. Ultimate goals include maximizing health and functional capacities, performing medical monitoring and surveillance to inhibit and prevent complications, and promoting access and full integration into the community in order to optimize quality of life.
doi:10.1016/j.pmr.2012.06.010
PMCID: PMC3482408  PMID: 22938874
10.  Flightless Flies: Drosophila models of neuromuscular disease 
The fruit fly, Drosophila melanogaster, has a long and rich history as an important model organism for biologists. In particular, study of the fruit fly has been essential to much of our fundamental understanding of the development and function of the nervous system. In recent years, studies using fruit flies have provided important insights into the pathogenesis of neurodegenerative and neuromuscular diseases. Fly models of spinal muscular atrophy, spinobulbar muscular atrophy, myotonic dystrophy, dystrophinopathies and other inherited neuromuscular diseases recapitulate many of the key pathologic features of the human disease. The ability to perform genetic screens holds promise for uncovering the molecular mechanisms of disease, and indeed, for identifying novel therapeutic targets. This review will summarize recent progress in developing fly models of neuromuscular diseases and will emphasize the contribution that Drosophila has made to our understanding of these diseases.
PMCID: PMC3062507  PMID: 20329357
11.  CNS-targeted gene therapy improves survival and motor function in a mouse model of spinal muscular atrophy 
The Journal of Clinical Investigation  2010;120(4):1253-1264.
Spinal muscular atrophy (SMA) is a neuromuscular disease caused by a deficiency of survival motor neuron (SMN) due to mutations in the SMN1 gene. In this study, an adeno-associated virus (AAV) vector expressing human SMN (AAV8-hSMN) was injected at birth into the CNS of mice modeling SMA. Western blot analysis showed that these injections resulted in widespread expression of SMN throughout the spinal cord, and this translated into robust improvement in skeletal muscle physiology, including increased myofiber size and improved neuromuscular junction architecture. Treated mice also displayed substantial improvements on behavioral tests of muscle strength, coordination, and locomotion, indicating that the neuromuscular junction was functional. Treatment with AAV8-hSMN increased the median life span of mice with SMA-like disease to 50 days compared with 15 days for untreated controls. Moreover, injecting mice with SMA-like disease with a human SMN–expressing self-complementary AAV vector — a vector that leads to earlier onset of gene expression compared with standard AAV vectors — led to improved efficacy of gene therapy, including a substantial extension in median survival to 157 days. These data indicate that CNS-directed, AAV-mediated SMN augmentation is highly efficacious in addressing both neuronal and muscular pathologies in a severe mouse model of SMA.
doi:10.1172/JCI41615
PMCID: PMC2846065  PMID: 20234094
12.  Possible Therapeutic Vaccines for Canine Myasthenia Gravis: Implications for the Human Disease and Associated Fatigue 
Brain, behavior, and immunity  2006;21(3):323-331.
Myasthenia gravis (MG) is caused by T-cell dependent antibodies reactive with acetylcholine receptors. These autoreactive antibodies cause muscle weakness by interfering with neuromuscular transmission via removal of acetylcholine receptors from the neuromuscular junction as well as changing the architecture of the junction itself. Consequently, muscle fatigue is a debilitating aspect of MG often leading to more general feelings of tiredness not directly due to muscle weakness. We have previously described two peptides that are mimetics of antigen receptors on certain autoreactive T and B cells that are involved in MG. When used as vaccines in the rat model of MG, these peptides prevented and ameliorated disease and muscle fatigue by blunting acetylcholine receptor antibody responses. Such disease protection resulted from vaccine-induced anergizing antibodies against acetylcholine receptor-specific T and B-cell antigen receptors. The present study prospectively evaluated the efficacy of these two vaccines in spontaneous acquired MG in pet dogs. When compared to historical controls that were prospectively studied, the vaccines increased the proportion of remitted dogs from 17% to 75%. In comparison to retrospectively studied historical controls that spontaneously remitted from MG, the vaccines accelerated the rate of decline in acetylcholine receptor antibody titers which resulted in a 3-fold decrease in the mean time to remission. These results are suggestive of a new type of targeted therapy that can drive autoimmune responses into long-term remission and possibly afford a means of determining whether correction of a physical cause of muscle weakness also corrects the perception of chronic, generalized fatigue.
doi:10.1016/j.bbi.2006.10.001
PMCID: PMC1857319  PMID: 17113748
autoimmunity; fatigue; neuroimmunology; vaccination; autoantibodies
14.  Mozart's Requiem–Liver Transplantation in 1988 
HPB Surgery  1990;2(1):15-20.
Liver transplantation is one of the most spectacular of surgical achievements. It is a demanding and expensive procedure, requiring great surgical skill and a great depth of supporting services. Precisely because it is a procedure at the leading edge of medicine, more and more units in developed countries are pressing to be allowed to carry it out. But there are many moral and ethical problems, some of which can be usefully examined using a “Mozart model” as proposed by Starzl.
doi:10.1155/1990/69704
PMCID: PMC2423553  PMID: 2282327
15.  Requiem for medicine? 
Western Journal of Medicine  1994;160(6):582-583.
PMCID: PMC1022577  PMID: 8053192
17.  Requiem for a journal 
PMCID: PMC154164  PMID: 12743052
18.  A requiem for vagotomy. 
BMJ : British Medical Journal  1991;302(6782):968.
PMCID: PMC1669465  PMID: 2032056
19.  A requiem for vagotomy. 
BMJ : British Medical Journal  1991;302(6776):547-548.
PMCID: PMC1669387  PMID: 2021715
22.  A requiem for vagotomy. 
BMJ : British Medical Journal  1991;302(6780):846.
PMCID: PMC1669150  PMID: 1867677
24.  A requiem for the cholecystokinin provocation test? 
Gut  1999;44(6):896.
PMCID: PMC1727556  PMID: 10375296
25.  Requiem for the cholecystokinin provocation test 
Gut  1999;44(4):580-581.
PMCID: PMC1727457  PMID: 10366295

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