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At least 343 records · Page 19Linked to original sources
PubMed2003

Llama-derived phage display antibodies in the dissection of the human disease oculopharyngeal muscular dystrophy.

Functional analysis of the estimated 30,000 genes of the human genome requires fast and reliable high-throughput methods to study spatio-temporal protein dynamics. To explore the suitability of heavy-chain antibodies (HCAbs) for studying mechanisms underlying human disease, we used oculopharyngeal muscular dystrophy (OPMD) as a paradigm for the expanding group of protein aggregation disorders that is characterized by subcellular dislocalization and aggregation of mutant protein. OPMD is caused by a moderate alanine expansion in the poly-A binding protein nuclear 1 (PABPN1) and is associated with intranuclear PABPN1 deposition exclusively in muscle. An experimental approach was designed in which the primary sequence of the PABPN1 gene was employed for generating a prokaryotic expression construct that permitted its expression in the host Escherichia coli. The purified product was used for immunization of a llama as well as for the selection of an antigen-specific antibody fragment from the derived phage display library. This single-domain antibody was able to recognize the native gene product in mammalian cell lines and in human muscle tissue by immunocytochemical, immunohistochemical and immunoblot analysis. Our results suggest that phage display derived heavy-chain antibodies can be used in proteomics to study the localization and function of hypothetical gene products, relevant to human disease.

Amino Acid Sequence↗
PubMed2006

Mechanisms of disease: congenital muscular dystrophies-glycosylation takes center stage.

Recent studies have defined a group of muscular dystrophies, now termed the dystroglycanopathies, as novel disorders of glycosylation. These conditions include Walker-Warburg syndrome, muscle-eye-brain disease, Fukuyama-type congenital muscular dystrophy, congenital muscular dystrophy types 1C and 1D, and limb-girdle muscular dystrophy type 2I. Although clinical findings can be highly variable, dystroglycanopathies are all characterized by cortical malformations and ocular defects at the more severe end of the clinical spectrum, in addition to muscular dystrophy. All of these disorders are defined by the underglycosylation of alpha-dystroglycan. Defective glycosylation of dystroglycan severs the link between this important cell adhesion molecule and the extracellular matrix, thereby contributing to cellular pathology. Recent experiments indicate that glycosylation might not only define forms of muscular dystrophy but also provide an avenue to the development of therapies for these disorders.

Animals↗
PubMed1998

The mutation properties of spinal and bulbar muscular atrophy disease alleles.

We studied the gene for the trinucleotide repeat disorder X-linked spinal and bulbar muscular atrophy (SBMA) to quantify the spectrum of mutations and gain insight into genetic anticipation. This analysis was performed using single sperm typing from an affected individual. This method allows the quantification of large numbers of meioses and therefore provides accurate information about genetic instability of the CAG repeat expansions which cause SBMA. Among 198 X chromosome-containing sperm cells, 20% had a CAG repeat number equal to the donor's somatic DNA of 49 CAG repeats, 56% were expansions, and 24% contractions. Most of the expansions (84%) and contractions (94%) were between 1 and 3 CAG repeats. These results are consistent with those obtained from one previously studied SBMA patient and reveal greater CAG repeat instability in sperm than in somatic tissue. Our results indicate that in SBMA, in contrast to sperm typing analysis of Huntington's disease, there is relative stability of the CAG repeat number during paternal transmissions and that the spectrum of mutations is narrow. These results are in agreement with the limited available clinical data and suggest that anticipation may not be a significant feature of this disease.

Adult↗
PubMed1995

The childhood muscular dystrophies: diseases sharing a common pathogenesis of membrane instability.

New observations demonstrate that several childhood forms of muscular dystrophy share a common pathogenesis. In muscle, dystrophin occurs as part of a membrane complex (dystrophin-glycoprotein) linking the cytoskeleton to the basal lamina. In Duchenne muscular dystrophy, dystrophin deficiency disrupts the linkage of the integral glycoproteins of the sarcolemma and leads to muscle fiber necrosis. In severe childhood autosomal recessive muscular dystrophy, a selective deficiency of adhalin (50-kd glycoprotein) also causes dysfunction of the dystrophin-glycoprotein complex. Most recently, a form of congenital muscular dystrophy demonstrates deficiency of laminin M (merosin) further demonstrating that sarcolemmal instability results from defects in structural proteins of the basal lamina. Animal models have been identified also demonstrating defects in specific proteins linking the subsarcolemmal cytoskeleton to the extracellular matrix. The mdx mouse has a defect in the gene encoding dystrophin. The cardiomyopathic hamster shows a specific deficiency of adhalin in skeletal muscle. The dy/dy mouse has been found deficient in merosin. These animal models will help researchers to understand their human counterparts and provide a system for testing therapeutic strategies.

Animals↗
PubMed2004

Student nurses' knowledge, attitude, and behavior toward chinese medicine and related factors.

The purposes of this study were (1) to understand student nurses' knowledge, attitude, and behavior toward Chinese medicine and (2) to explore the related factors. This study was based on a structured questionnaire survey. The subjects of the study were students from the nursing department of one technical university in southern Taiwan. The sampling methods of this study were stratified sampling and cluster sampling. After getting the agreement of the student nurses, the researcher gave out 518 questionnaires to do the test. There were 496 valid questionnaires and the retrieval ratio was 96%. The results were: (1) The highest mean score was for the basic concepts of Chinese medicine and the lowest mean score was for the basic concepts of Chinese herbal medicine. The average correctness rate of knowledge about Chinese medicine was 67.42%. (2) The student nurses had a positive attitude toward Chinese medicine. (3) As for the frequency of seeking Chinese medical treatment, most of the student nurses used common folk tonics of Chinese medicine to recuperate their health. As for the medical treatment of general diseases, muscular and skeletal diseases were the most. (4) The significant common related factors for student nurses' knowledge, attitude, and behavior toward Chinese medicine were " have ever studied the literature of Chinese medicine or Chinese medicine nursing" and " have sources of knowledge on Chinese medicine". The factors "have ever studied the credit points of Chinese medicine", and " all credit points of Chinese medicine that have ever studied" also significantly influenced student nurses' knowledge and attitude toward Chinese medicine. Additionally, there were significantly positive pairwise correlations between student nurses' knowledge, attitude, and behavior toward Chinese medicine. The results of this study suggest that nursing schools should arrange curricula in Chinese medicine as required credits in the education of student nurses and provide student nurses with information on Chinese medicine by various kinds of formal and informal methods to promote the Chinese medicine knowledge, attitude, and behavior of student nurses and to accelerate the personnel cultivation of Chinese medicine nursing in order to meet the needs of society.

Adolescent↗
PubMed1996

Elevated aminotransferase activity as an indication of muscular dystrophy: case reports and review of the literature.

Five male children are reported in whom incidental recognition of elevated serum alanine aminotransferase (ALT) activity initiated investigation to identity the cause of suspected hepatocellular injury. All five were later diagnosed with X chromosome-linked muscular dystrophy. The serum level of ALT, generally considered to be specific for hepatocellular injury, was increased two to 25 times above normal in all the reported cases. Paradoxically, the increase in ALT activity was greater than that of serum aspartate aminotransferase (three to 16 times normal), an enzyme whose elevation is generally recognized as being less specific and indicative of muscle, cardiac, kidney, pancreatic, red blood cell or hepatic injury. At presentation to the gastrointestinal service, one case, age 2.5 months, had no symptoms or signs of neuromuscular dysfunction, while the other four had previously unrecognized hypertrophy of the calves, proximal limb weakness, positive Gower's sign or delayed gross motor skills. All five patients had marked elevation of serum creatine kinase activity and histopathologically confirmed muscular dystrophy. The practical clinical implication of this report is that children with elevated serum ALT, in the absence of other signs and symptoms of hepatic injury, may have occult muscular disease--most frequently muscular dystrophy. Although the clinical signs of muscular dystrophy may be subtle or absent, early determination of creatine kinase will suggest the correct diagnosis and minimize extensive and invasive investigation focusing on hepatic injury.

Adolescent↗
PubMedDate not supplied

A review of the rational use of corticosteroids.

Understanding of the use of corticosteroids has been aided by knowledge of their effect on cellular protein synthesis and by an appreciation of how modification of their molecular structure alters their pharmacological action. Their ability to modulate the immune response and to diminish inflammation make them useful in rheumatology, respiratory diseases, allergies, endocrine and metabolic disorders, blood disorders, gastro-intestinal diseases, neurological and muscular diseases, renal diseases, cardiovascular disorders and skin diseases. They have been widely tried empirically and, sometimes, they have proved unequivocally effective. Often there has been a need for cooperative clinical trials to establish their efficacy, and initial enthusiasm for corticosteroids has been tempered by a better appreciation of their limitations, especially in infections and ophthalmology. Those areas where either controlled trials or other persuasive evidence has established a place for their use are reviewed.

Adrenal Cortex Hormones↗
PubMed2001

Arthritis and rheumatism are neglected health priorities: a bibliometric study.

OBJECTIVE: To investigate the frequency of publications about arthritis and rheumatic diseases relative to other diseases and to examine which topics received most attention. METHODS: Available health statistics were used to quantify the burden of illness due to musculoskeletal (MSK) conditions. Next, a bibliographic analysis of MEDLINE was performed comparing disease categories using the MeSH tree structure for 1991 and 1996. Diseases were ranked according to the frequency of citations attributable to them and further analyses were performed for journal categories, MeSH subheadings, and the frequency of citations for specific types of arthritis and rheumatic diseases. RESULTS: Compared with 9 other causes, MSK diseases are leading contributors to health professional consultations, total health costs, chronic ill health, and disability. In contrast, MSK diseases ranked ninth among twelve major MEDLINE disease categories in 1996 and 1991. These rankings were similarly low across journal categories reflecting basic science research and clinical application. Radiography, rehabilitation, history and embryology were the most frequently used subheadings for MSK diseases. In 1996, there were 16,603 citations for MSK diseases, led by bone diseases (7,304 citations), joint diseases (4,987), muscular diseases (4,236), arthritis (3,555), and rheumatic diseases (3195). Among arthritic and rheumatic diseases, rheumatoid arthritis had the largest number of citations (2,004), followed by systemic lupus erythematosus (927) and osteoarthritis (793). CONCLUSION: Arthritis and rheumatic diseases receive far less attention in the scientific literature than is warranted by their enormous and growing disease burden. Both research and dissemination are lacking and more adequate resources for these activities are indicated.

Arthritis↗
PubMed1997

[The structure of the diagnosis of neuromuscular diseases (the examination chart of outpatients for computer analysis)].

To provide a prophylactic medical examination (PME) as well as to improve the quality of diagnosis and treatment in a local medical institutions special coded card case sheets for patients with neuro-muscular disease adapted for computer analyzes are proposed. Such sheets facilitated determination of the diagnosis, objective patient's state during PME and correction of the scheme of therapy. The sheets were elaborated for long-term observation of 3153 patients with different neuro-muscular diseases and syndromes. The scheme of the diagnosis included such indices as character of damage of motor unit, type of heritability, age of onset of the disease, main systems of muscular atrophies, rate of the progress of pathological process, severity of the patient's state.

Ambulatory Care↗
PubMed1977

[Modern problems of hereditary neuromuscular diseases].

The authors outline some disputable questions of the nozological independence of different nervous-muscular diseases and their classification. Special attention is being drawn to the pathogenesis of progressive muscular dystrophy and to the importance of studying cyclic nucleotide metabolism.

Humans↗