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)

We have endeavoured to find immunological indications of chronic virus infection in patients with chronic fatigue syndrome (myalgic encephalomyelitis) and to investigate immune responsiveness to viruses in such patients in comparison with normal subjects and patients with muscular dystrophy. Levels of circulating IgM immune complexes were elevated (above the 95% normal control range) in 10 (17%) of 58 patients with chronic fatigue syndrome, which was not significantly different from the normal controls or from dystrophy controls (by Mann Whitney U test). Levels of IgG complexes were only increased in 10% of patients. Lymphocyte proliferation in response to concanavalin A (Con A), assessed by increase in 3H-thymidine incorporation, did not differ between 14 patients and 18 normal subjects. The proliferative response to Coxsackie B virus antigen did not differ between chronic fatigue patients and normal subjects when expressed either as an increase in counts or as a stimulation index. Adjustment of the counts in relation to the proliferation response to Con A, as an indication of the overall proliferative response of the cell preparation, did not reveal any hidden difference. IgM antibodies to Coxsackie B viruses were not found in any of 20 patients and in 1 of 20 dystrophy controls. Significant levels of neutralizing antibodies to Coxsackie B viruses 1-5 were found in 6 out of 19 (32%) patients compared with 4 out of 17 (24%) dystrophy controls, which does not differ from currently expected normal incidence. Antibody titres to other respiratory viruses were also not notably different between the patient and control groups. In conclusion we can find no evidence for a definable viral aetiology for the chronic fatigue syndrome, neither in terms of a persistent infection nor an altered ability to respond to virus.
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PMID:Immune responsiveness in chronic fatigue syndrome. 156 Nov 98

We present 3 patients with congenital inflammatory myopathy and summarize the literature. CNS involvement (microcephaly/intellectual delay) may or may not be present. Serum creatine kinase activity is elevated, the EMG is myopathic, and the muscle biopsy reveals inflammatory infiltrates, muscle fiber damage, and class I major histocompatibility complex products in muscle sarcolemma. Possible etiologies include intrauterine viral infection or an autoimmune process. Treatment with steroids may result in some motor improvement but has no effect on the CNS involvement. Despite a common time of presentation, these patients have a heterogeneous clinical profile, often suggesting a congenital muscular dystrophy syndrome.
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PMID:Congenital inflammatory myopathy. 219 2

A vertical infection system in hamsters produced by inoculating with Akabane virus was established as an experimental model of congenital muscular dystrophy (Fukuyama type) (FCMD) and arthrogryposis multiplex congenita (AMC) in humans. Swollen fetuses, mummified fetuses, arthrogryposis and cranial deformities were produced in 13 of 415 newborn hamsters inoculated transplacentally (3.1%). The incidence was significantly higher than that in the control group (p less than 0.05). Eight cases presenting apparent abnormalities were examined histologically and virologically. Pictures of skeletal muscles showing such immature features as chains of internal nuclei and myotubular muscle fibers were demonstrated in all cases. In addition, perivascular infiltration of small round cells and thickening of vascular walls were seen in 5 cases, while myogenic changes such as broken myofibrils, small muscle fibers and changes in fiber size were observed in 6 cases. In the anterior horn of the spinal cord, swelling and loss of nuclei and cell matrices were noticed in 4 cases. In the cerebral cortex, disarrangement of cell layers, edematous changes and loss of nerve cells were revealed in 5 cases. In 4 cases virus particles were found on electron microscopy in the cerebral cortex. The authors considered that this experimental system of intrauterine viral infection would be useful for the etiological study of FCMD and AMC in humans in which not only skeletal muscles but also the central nervous system is affected congenitally.
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PMID:Experimental intrauterine infection of akabane virus. Pathological studies of skeletal muscles and central nervous system of newborn hamsters with relevances to the Fukuyama type congenital muscular dystrophy. 678 96

We review recent publications involving molecular biology and heart failure. There was some further evolution in our knowledge of the basis for the simplest of molecular genetic diseases--single gene disorders. This year, hypertrophic cardiomyopathy had further genes identified as causative mutations; was shown to have the same genetic defects in spontaneous and familial cases; and demonstrated phenotypic alteration by environmental factors. Several rare cardiomyopathies were linked to the dystrophin gene, previously identified as the mutated gene responsible for forms of muscular dystrophy. Molecular methods were applied to linking viral infection to dilated cardiomyopathy by hunting for viral genomes in heart muscle, and for seeking mutations in mitochondrial DNA. Molecular treatment of restenosis after angioplasty showed promise through the application of gene transfer to vascular tissue by oligonucleotides as well as adenovirus-mediated gene transfer. The ethical aspects of diagnosing and treating human disease using genetic information, which receive frequent discussion in print, are also reviewed.
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PMID:The molecular and cellular biology of heart failure. 804 84

We describe the epidemiology, clinical features, radiological findings, therapy and course for 15 patients hospitalized at the Infectious Diseases UOC of Gravina Hospital Caltagirone for a serious respiratory condition with verified infection A (H1N1) from 9 November to 22 December 2009. We retrospectively reviewed medical records, laboratory and instrumental tests performed on hospitalized patients. All patients had significant respiratory impairment: nine had co-morbidities and risk factors such as obesity, pregnancy, immunosuppressant conditions and muscular dystrophy. Symptoms were similar to those of seasonal influenza; radiological investigation of the chest (RX and CT) presents lung involvement in 80% of patients and changes in the bio-humoral indices. Development into acute respiratory distress syndrome (ARDS) was observed in six patients: three were ventilated with a Venturi mask, three were treated in intensive care and two patients used extracorporeal membrane oxygenation (ECMO). Two died. All patients received antiviral and symptomatic therapy for 5-21 days. A(H1N1) virus infection led to a mild to moderate flu syndrome, which was often cured by symptomatic treatment; some patients required hospitalization for viral pneumonia, mixed pneumonia or ARDS. In previous flu epidemics there was no development into ARDS (40% in our series).
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PMID:[Pulmonary complications from pandemic AH1N1 influenza: clinical-radiological features]. 2147 43

Advancements in the development of large bioactive molecules as therapeutic agents have made drug delivery an active and important field of research. Cell-penetrating peptides (CPPs) have the ability to deliver an array of molecules and even nano-size particles into cells in an efficient and non-toxic manner, both in vitro and in vivo. This review aims to give a perspective on the obstacles that CPP-mediated drug delivery is currently facing as well as the great opportunities for improvements that lie ahead. Strategies for delivery of novel gene-modulating agents and enhancing efficacy of classical drugs will be discussed, as well as methods for increasing bioavailability and tissue specificity of CPPs. The usefulness and potential of CPPs as therapeutic drug-delivery vectors will be exemplified by their use in the treatment of cancer, viral infection and muscular dystrophy.
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PMID:Therapeutic delivery opportunities, obstacles and applications for cell-penetrating peptides. 2283 26

Morpholino oligos (Morpholinos) are widely used tools for knocking down gene expression and are currently in a clinical trial for treatment of Duchene muscular dystrophy. A Morpholino analog has been in a clinical trial as a potential anti-bioterrorism agent for inhibiting replication of deadly Marburg viral infection. The cellular uptake of Morpholinos can been greatly increased by conjugation with cell-penetrating peptides (CPP). The use of the CPP-Morpholino conjugates (PPMOs) in vivo has been broadly demonstrated in viral, bacterial, genetic and other diseases. The following aspects of PPMOs will be discussed in this paper including chemistry, stability, antisense specificity, mechanism of cellular uptake, in vivo efficacy, tissue distribution, pharmacokinetics, toxicity and the human clinical trials. PPMOs are powerful research tools for studying gene function in animals and their properties are being improved as potential human therapeutic agents.
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PMID:In vivo delivery of morpholino oligos by cell-penetrating peptides. 2314 Apr 56

Children with abnormal liver function can often be seen in outpatient clinics or inpatients wards. Most of them have respiratory disease, or gastroenteritis by virus infection, accompanying fever. Occasionally, hepatitis by the viruses causing systemic infection may occur, and screening tests are required. In patients with jaundice, the tests for differential diagnosis and appropriate treatment are important. In the case of a child with hepatitis B virus infection vertically from a hepatitis B surface antigen positive mother, the importance of the recognition of immune clearance can't be overstressed, for the decision of time to begin treatment. Early diagnosis changes the fate of a child with Wilson disease. So, screening test for the disease should not be omitted. Non-alcoholic fatty liver disease, which is mainly discovered in obese children, is a new strong candidate triggering abnormal liver function. Muscular dystrophy is a representative disease mimicking liver dysfunction. Although muscular dystrophy is a progressive disorder, and early diagnosis can't change the fate of patients, it will be better to avoid parent's blame for delayed diagnosis.
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PMID:Abnormality on liver function test. 2451 18

This issue of the ILAR Journal focuses on livestock models in translational medicine. Livestock models of selected human diseases present important advantages as compared with rodent models for translating fundamental breakthroughs in biology to useful preventatives and therapeutics for humans. Livestock reflect the complexity of applying medical advances in an outbred species. In many cases, the pathogenesis of infectious, metabolic, genetic, and neoplastic diseases in livestock species more closely resembles that in humans than does the pathogenesis of rodent models. Livestock models also provide the advantage of similar organ size and function and the ability to serially sample an animal throughout the study period. Research using livestock models for human disease often benefits not only human health but animal health and food production as well. This issue of the ILAR Journal presents information on translational research using livestock models in two broad areas: microbiology and infectious disease (transmissible spongiform encephalopathies, mycobacterial infections, influenza A virus infection, vaccine development and testing, the human microbiota) and metabolic, neoplastic, and genetic disorders (stem cell therapy, male germ line cell biology, pulmonary adenocarcinoma, muscular dystrophy, wound healing). In addition, there is a manuscript devoted to Institutional Animal Care and Use Committees' responsibilities for reviewing research using livestock models. Conducting translational research using livestock models requires special facilities and researchers with expertise in livestock. There are many institutions in the world with experienced researchers and facilities designed for livestock research; primarily associated with colleges of agriculture and veterinary medicine or government laboratories.
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PMID:Livestock models in translational medicine. 2599 94