Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026850 (muscular dystrophy)
 5,870 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Attention is drawn to the use of nuclear magnetic resonance (NMR) spin-echo sequences in the recognition of white matter disease of the brain. In 5 patients with multiple sclerosis, 8 lesions were seen with postcontrast x-ray computed tomography (CT) (37.5 g of iodine), 33 with inversion-recovery (IR) scans, and 47 with spin-echo (SE) scans. Partial volume effects were less of a diagnostic difficulty with SE scans than with IR scans. Extensive areas of abnormal white matter were seen with CT, IR, and SE scans in a patient with leucodystrophy associated with congenital muscular dystrophy. In a patient with adrenoleucodystrophy focal lesions were seen with CT, IR, and SE scans. In addition, loss of gray-white matter contrast was seen in both occipital lobes with IR scans. Extensive areas of white matter involvement were also seen in a case of Binswangers disease.
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PMID:Nuclear magnetic resonance (NMR) imaging in white matter disease of the brain using spin-echo sequences. 683 62

Psychological problems affecting physically handicapped individuals are understudied. However, some studies suggest a higher risk of developing an elevated level of anxiety among these individuals. A previous study reported that people with multiple sclerosis show more anxiety than patients suffering from another type of physical limitations. These results raise questions about the specificity of the link between anxiety and some medical conditions. The aim of the present study is to increase our understanding of manifestations of anxiety associated with degenerative illnesses. Three groups of patients with different physical limitations were compared on their level of anxiety and on various cognitive process. Groups were composed as: 1) 20 patients suffering from multiple sclerosis, 2) 18 patients diagnosed with another degenerative illness (either arthritis, muscular dystrophy or ataxia), and 3) 20 participants presenting a non-degenerative handicap. The 3 groups were not significantly different on age, sex and duration of the physical limitations. Symptoms of anxiety were measured with 3 questionnaires:1) the Hospital Anxiety and Depression Scale, 2) the Penn State Worry Questionnaire, used to assess the tendency to worry, and 3) the Worry Domains Questionnaire, assessing diversity and intensivity of worry themes. In turn, cognitive processes were evaluated with 4 questionnaires: 1) the Acceptance of Disability scale, used to assess the person's level of acceptance regarding a disability, 2) the Interpretation of Disturbing Thoughts questionnaire, an idiographical measure about the interpretation of thoughts associated with a physical handicap, 3) the Intolerance of Uncertainty scale, presenting beliefs about uncertainty and its consequences, and 4) the Cognitive Avoidance questionnaire, to evaluate the tendency of avoiding disturbing thoughts and images. Participants completed all questionnaires alone and the experimenter was available to answer any questions. MANOVAs were used to compare the 3 groups on the studied variables. Statistical analysis revealed no significant differences among groups for symptoms of anxiety and depression, tendency to worry and worry themes. Similarly, no significant differences were obtained on cognitive processes. The multiple sclerosis group and the other degenerative illness group were combined and compared to the non-degenerative handicap group. MANOVAs conducted on symptoms and cognitive processes did not yield any significant differences. Results of the present study seem to indicate that the type of physical limitations is not an indicator of the presence of specific anxiety symptoms or cognitive processes. On an exploratory basis, all participants were compared according to their level of acceptance of disability. Results indicated that a lower level of acceptance was significantly associated with more anxious and depressive symptoms, excessive worries, and a greater intolerance of uncertainty. It seems that acceptance of disability plays a key role in maintaining psychological distress among people with a physical handicap. The influence of intolerance of uncertainty on acceptance of disability needs to be further explored.
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PMID:[Anxiety and physical limitation: a complex relation]. 1209 80

Swivel walkers were commonly prescribed for children with complete thoracic lesion myelomeningocele in the 1970s and 80s, when the incidence of spina bifida in the UK was of the order of 3 per 100,000 live births. The advent of reciprocal walking orthoses provided a more suitable alternative for those with good upper limb and trunk function, and swivel walkers were then used primarily for very young or more severely disabled patients. Pre-natal screening has dramatically reduced the incidence of spina bifida in the UK and subsequently swivel walkers have been used in a wider range of pathology, including spinal muscular atrophy, multiple sclerosis, muscular dystrophy and other neurological conditions that lead to lower limb dysfunction. The detail design of these devices has been adapted to accommodate the specific problems encountered in these conditions. In particular the designs have been updated to: enable very young patients to be more readily fitted at the age of 1 year; allow the walking mechanisms to be conveniently adjusted for easier ambulation when weakness or lack of confidence inhibits performance; permit simple adjustment to a standing frame mode to enhance stability in situations of increased risk; promote manual handling practice that is compatible with the National Health Service (NHS) policy of compliance with relevant regulations. To underpin appropriate prescription and safe supply the NHS Procurement Agency have encouraged the development of a common course for all types of swivel walker.
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PMID:New technical advances in swivel walkers. 1457 43

Some physically-disabled people with neuromuscular diseases such as amyotrophic lateral sclerosis, multiple sclerosis, muscular dystrophy, or other conditions that hinder their ability to write, type, and speak, require an assistive tool for purposes of augmentative and alternative communication in their daily lives. In this paper, we designed and implemented a wireless environmental control system using Morse code as an adapted access communication tool. The proposed system includes four parts: input-control module; recognition module; wireless-control module; and electronic-equipment-control module. The signals are transmitted using adopted radio frequencies, which permits long distance transmission without space limitation. Experimental results revealed that three participants with physical handicaps were able to gain access to electronic facilities after two months' practice with the new system.
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PMID:Morse code application for wireless environmental control systems for severely disabled individuals. 1496 Jan 24

Oropharyngeal dysphagia is not a single disease but a symptom complex that is recognized by difficulty in transfer of a food bolus from mouth to esophagus or by signs and symptoms of aspiration pneumonia or nasal regurgitation. Its etiologies are legion, with the most common result of underlying neuromuscular disease, including cerebrovascular accidents, Parkinson's disease, multiple sclerosis, and muscular dystrophy. There are two methods of treatment for oropharyngeal dysphagia; one is specific and directed at the underlying disease and the other is general (supportive) and designed to preserve oral intake for nutrition while preventing aspiration pneumonia. Following a general discussion of the etiology and clinical presentation of orophyarngeal dysphagia, a description of the methods for supportive care is presented as well as the approach to the treatment of cricopharyngeal dysfunction and Zenker's diverticulum.
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PMID:Oropharyngeal dysphagia. 1600 27

Asphyxia, not an uncommon cause of sudden death, may result from numerous etiologies. Foreign-body aspiration and strangulation are 2 extrinsic causes. Airway obstruction may also be caused by laryngeal edema, asthma, infection, or anaphylaxis. Chronic causes of asphyxia include musculoskeletal diseases (eg, muscular dystrophy, amyotrophic lateral sclerosis), neurologic disorders (eg, myasthenia gravis, multiple sclerosis), respiratory disease (eg, emphysema, chronic bronchitis), or tumors. The manner of death in cases of asphyxiation may be natural, accidental, homicide, or suicide. For the death investigator, determining the cause and manner of death can often be quite challenging. We report here 2 cases of an esophageal fibrovascular polyp causing sudden asphyxial death, review of the literature, and discussion of other differential diagnoses in the case of asphyxial death.
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PMID:Sudden death due to asphyxia by esophageal polyp: two case reports and review of asphyxial deaths. 1612 Oct 86

Dysferlin is a muscle protein involved in cell membrane repair and its deficiency is associated with muscular dystrophy. We describe that dysferlin is also expressed in leaky endothelial cells. In the normal central nervous system (CNS), dysferlin is only present in endothelial cells of circumventricular organs. In the inflamed CNS of patients with multiple sclerosis (MS) or in animals with experimental autoimmune encephalomyelitis, dysferlin reactivity is induced in endothelial cells and the expression is associated with vascular leakage of serum proteins. In MS, dysferlin expression in endothelial cells is not restricted to vessels with inflammatory cuffs but is also present in noninflamed vessels. In addition, many blood vessels with perivascular inflammatory infiltrates lack dysferlin expression in inactive lesions or in the normal-appearing white matter. In vitro, dysferlin can be induced in endothelial cells by stimulation with tumor necrosis factor-alpha. Hence, dysferlin is not only a marker for leaky brain vessels, but also reveals dissociation of perivascular inflammatory infiltrates and blood-brain barrier disturbance in multiple sclerosis.
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PMID:Dysferlin is a new marker for leaky brain blood vessels in multiple sclerosis. 1695 79

Charcot-Marie-Tooth disease, the most common hereditary motor and sensory neuropathy, is a slowly progressive disorder characterized by diffuse muscle weakness and prominent distal atrophy that predominantly involves the intrinsic muscles of the feet and the peroneal muscles. It results in marked reduction in functional aerobic capacity during exercise and fatigue is commonly reported. To date, no pharmacologic treatment has been shown to be effective for treating fatigue in Charcot-Marie-Tooth. Modafinil is used to treat the symptoms of fatigue and excessive daytime sleepiness in narcolepsy. However, fatigue and subsequent excessive daytime sleepiness secondary to fatigue are common symptoms in many neurologic disorders. Prior reports on patients with myotonic muscular dystrophy, multiple sclerosis, Parkinson's disease, and amyotrophic lateral sclerosis, have shown beneficial effects of modafinil in treating fatigue. We report 4 patients with genetically confirmed Charcot-Marie-Tooth disease who had significant fatigue that was almost completely relieved by modafinil.
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PMID:Modafinil reduces fatigue in Charcot-Marie-Tooth disease type 1A: a case series. 1706 Mar 10

The concept of stem cell therapy, the repair of damaged or diseased tissue by transplantation of healthy cells, is deceptively simple. This simplicity has led to the hype among desperate patients, their doctors and the media: it would seem that every ailment can be treated with stem cells. At this time, however, the scientific truth is mostly disappointing. The recent claim from Korea of a major breakthrough - the ability to grow stem cells from cloned embryos - turned out to be fraudulent. With the exception ofapplications in haematologic diseases, skin wounds, and bone and cartilage diseases, most of the putative therapeutic applications of stem cell therapy are still under preclinical investigation. These include the treatment of Parkinson's and Alzheimer's disease, paraplegia, cerebral infarction, amyotrophic lateral sclerosis, multiple sclerosis and muscular dystrophy. The treatment of cardiac infarction is currently being investigated in clinical trials.
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PMID:[Progress and clashes in stem cell therapy research]. 1722 33

The peripheral nervous system (PNS), including peripheral nerves and dorsal root ganglion (DRG), is involved in numerous neurological disorders, such as peripheral neuropathies (diabetic neuropathy, chronic pain, etc.) and demyelination diseases (multiple sclerosis, congenital muscular dystrophy, Charcot-Marie-Tooth disease, etc.). Effective clinical interventions for those diseases are very limited. Gene therapy represents a novel therapeutic strategy for the PNS diseases, especially with simply and minimally invasive delivery methods. Previously, we have shown that adeno-associated virus type 8 (AAV8) can efficiently transduce muscles body wide by a simple intraperitoneal injection in neonatal mice. In this study, we investigated the capacity of AAV8 in transducing PNS in neonatal mice by intraperitoneal injection and also in adult mice by intramuscular injection. Efficient and long-term gene transfer was found in the white matter of the spinal cord, DRG neurons, and peripheral nerves in both groups, treated either as neonates or as adults, particularly neonates. In the adult mice injected with AAV8 in tibialis anterior and gastrocnemius muscles in one of the hind legs, more neurons were transduced in the lower part of the spinal cord than in the upper part; the DRG neurons were transduced more on the vector-injected side than in the contralateral uninjected side. Few cells in the gray matter of the spinal cord were transduced regardless of the delivery methods and age of the mice. These results support the mechanism of vector retrograde transport and suggest that AAV8 crosses blood-nerve barrier poorly. Our finding should have important implications in gene therapy for peripheral neurological disorders.
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PMID:Efficient retrograde transport of adeno-associated virus type 8 to spinal cord and dorsal root ganglion after vector delivery in muscle. 1971 1


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