Myology

2015 ◽  
Author(s):  
Michael Swash
Keyword(s):  
Muscular Dystrophies ◽  
Muscle Pathology ◽  
Genetic Mutations ◽  
Muscle Fibres ◽  
Myofibrillar Atpase ◽  
Histochemical Technique ◽  
Clinical Observations ◽  
Metabolic Myopathies ◽  
Underlying Processes

Diseases of muscle have become better understood by careful clinical observations, resulting in a clinically useful classification of the different groups of disorders e.g. inherited muscular dystrophies such as Duchenne muscular dystrophy, limb-girdle and metabolic myopathies, and myotonic disorders. A number of scientific approaches have determined the directions taken by this evolving classification. Understanding of the anatomy of the motor unit’s distribution in muscle transformed muscle pathology and muscle electrophysiology, and key to these pathological advances was the use of the histochemical technique for identifying myofibrillar ATPase in muscle fibres. This allowed studies of the distribution of fibre types in muscle in many different disorders. The inflammatory muscle diseases have been better understood since recent advances in immunology have characterized the underlying processes. The limb-girdle and childhood myopathies have proven to be heterogeneous, with many different, apparently causative, underlying genetic mutations.

Myopathies

2015 ◽  
Author(s):  
Thomas I. Cochrane ◽  
Anthony A Amato
Keyword(s):  
Immunosuppressive Drug ◽  
Muscle Disease ◽  
Muscular Dystrophies ◽  
Myofibrillar Myopathy ◽  
Genetic Classification ◽  
Drug Induced ◽  
Metabolic Myopathies ◽  
Skeletal Muscle Weakness ◽  
Periodic Paralyses

Muscle disease (myopathy) can be acquired or hereditary. Symptoms include skeletal muscle weakness, atrophy, muscle cramps or myalgias, and impaired function of respiratory, pharyngeal, facial, or ocular muscles. Clinicians must identify treatable myopathies and initiate therapy before permanent weakness occurs. For patients with untreatable disorders, proper supportive care, rehabilitation, genetic counseling, and psychological support are critical. This chapter covers common myopathies, including muscular dystrophies; malignant hyperthermia; metabolic myopathies; mitochondrial myopathies and encephalopathies; ion channelopathies, periodic paralyses, and nondystrophic myotonias; and drug-induced myopathies. Clinical presentation, diagnosis, pathogenesis, and therapy are emphasized. Tables describe genetic classification of the limb-girdle and distal muscular dystrophies; proteins involved in myofibrillar myopathy; other distal myopathies; and antirheumatic, antiinflammatory, and immunosuppressive drug-induced myopathy. Figures show the sarcolemmal membrane and enzymatic proteins associated with muscular dystrophies, sarcomeric and nuclear proteins associated with muscular dystrophies, and major metabolic pathways used by muscle. This chapter contains 3 highly rendered figures, 4 tables, 107 references, and 5 MCQs.

Myopathies

2015 ◽  
Author(s):  
Thomas I. Cochrane ◽  
Anthony A Amato
Keyword(s):  
Immunosuppressive Drug ◽  
Muscle Disease ◽  
Muscular Dystrophies ◽  
Myofibrillar Myopathy ◽  
Genetic Classification ◽  
Drug Induced ◽  
Metabolic Myopathies ◽  
Skeletal Muscle Weakness ◽  
Periodic Paralyses

Muscle disease (myopathy) can be acquired or hereditary. Symptoms include skeletal muscle weakness, atrophy, muscle cramps or myalgias, and impaired function of respiratory, pharyngeal, facial, or ocular muscles. Clinicians must identify treatable myopathies and initiate therapy before permanent weakness occurs. For patients with untreatable disorders, proper supportive care, rehabilitation, genetic counseling, and psychological support are critical. This chapter covers common myopathies, including muscular dystrophies; malignant hyperthermia; metabolic myopathies; mitochondrial myopathies and encephalopathies; ion channelopathies, periodic paralyses, and nondystrophic myotonias; and drug-induced myopathies. Clinical presentation, diagnosis, pathogenesis, and therapy are emphasized. Tables describe genetic classification of the limb-girdle and distal muscular dystrophies; proteins involved in myofibrillar myopathy; other distal myopathies; and antirheumatic, antiinflammatory, and immunosuppressive drug-induced myopathy. Figures show the sarcolemmal membrane and enzymatic proteins associated with muscular dystrophies, sarcomeric and nuclear proteins associated with muscular dystrophies, and major metabolic pathways used by muscle. This chapter contains 3 highly rendered figures, 4 tables, 107 references, and 5 MCQs.

Myopathies

2015 ◽  
Author(s):  
Thomas I. Cochrane ◽  
Anthony A Amato
Keyword(s):  
Immunosuppressive Drug ◽  
Muscle Disease ◽  
Muscular Dystrophies ◽  
Myofibrillar Myopathy ◽  
Genetic Classification ◽  
Drug Induced ◽  
Metabolic Myopathies ◽  
Skeletal Muscle Weakness ◽  
Periodic Paralyses

Muscle disease (myopathy) can be acquired or hereditary. Symptoms include skeletal muscle weakness, atrophy, muscle cramps or myalgias, and impaired function of respiratory, pharyngeal, facial, or ocular muscles. Clinicians must identify treatable myopathies and initiate therapy before permanent weakness occurs. For patients with untreatable disorders, proper supportive care, rehabilitation, genetic counseling, and psychological support are critical. This chapter covers common myopathies, including muscular dystrophies; malignant hyperthermia; metabolic myopathies; mitochondrial myopathies and encephalopathies; ion channelopathies, periodic paralyses, and nondystrophic myotonias; and drug-induced myopathies. Clinical presentation, diagnosis, pathogenesis, and therapy are emphasized. Tables describe genetic classification of the limb-girdle and distal muscular dystrophies; proteins involved in myofibrillar myopathy; other distal myopathies; and antirheumatic, antiinflammatory, and immunosuppressive drug-induced myopathy. Figures show the sarcolemmal membrane and enzymatic proteins associated with muscular dystrophies, sarcomeric and nuclear proteins associated with muscular dystrophies, and major metabolic pathways used by muscle. This review contains 3 highly rendered figures, 4 tables, and 107 references.

scholarly journals The mystery of Anser neglectus Sushkin, 1897. Victim of the Tunguska disaster? A Hungarian story

2019 ◽  
Vol 27 (2) ◽  
pp. 20-58
Author(s):  
Jacques Van Impe
Keyword(s):  
Distinct Species ◽  
Genetic Mutations ◽  
Zoological Garden ◽  
Large Numbers ◽  
Bean Goose ◽  
Field Identification ◽  
Breeding Grounds ◽  
The Republic ◽  
The Town

Abstract The well-known Russian ornithologist Prof. Peter Sushkin described it as a distinct species from Bashkortostan (Bashkiria) in 1897, a highly acclaimed discovery. However, its breeding grounds never been discovered. Since then, there has been a long-standing debate over the taxonomic position of Anser neglectus. Taxonomists have argued that Anser neglectus belongs to the group of A. fabalis Lath. because of its close resemblance with A. f. fabalis. At the beginning of the 20th century, large numbers of the Sushkin’s goose were observed in three winter quarters: on two lakes in the Republic of Bachkortostan, in the surroundings of the town of Tashkent in the Republic Uzbekistan, and in the puszta Hortobágy in eastern Hungary. It is a pity that taxonomists did not thoroughly compare the Russian and Hungarian ornithological papers concerning the former presence of Anser neglectus in these areas, because these rich sources refer to characteristics that would cast serious doubt on the classification of Anser neglectus as a subspecies, an individual variation or mutation of A. f. fabalis. Sushkin’s goose, though a typical Taiga Bean Goose, distinguished itself from other taxa of the Bean Goose by its plumage, its field identification, by its specific “Gé-gé” call, the size of its bill, and by its preference for warm and dry winter haunts. A. neglectus should therefore be considered a separate, fully distinct species, sensu Stegmann (1935) and Stegmann in Schenk (1931/34), if we follow the established criteria in bird systematics of Tobias et al. (2010). Between 1908 and 1911, an estimation of up to 150.000 individuals of A. neglectus wintered in the Hortobágy puszta. Approximate counts for both other winter quarters are not available. The last living birds were seen in the zoological garden of Budapest in 1934. Since then, A. f. fabalis and A. s. rossicus “Type neglectus” (i.e. A. f. fabalis and A. s. rossicus with a color of the bill and the legs, similar to the former A. neglectus) have been observed sporadically on the breeding grounds and in the winter quarters of both taxa. However, the true A. neglectus seems to be extinct. Its sudden disappearance may be related to the Tunguska event, the catastrophe in 1908 that may have caused genetic mutations. This hypothesis is considered to be the most likely, among other available hypotheses about its extinction.

Classification of genetic mutations using ontologies from clinical documents and deep learning

Web Semantics ◽  
2021 ◽  
pp. 233-250
Author(s):  
Punam Bedi ◽  
Shivani ◽  
Neha Gupta ◽  
Priti Jagwani ◽  
Veenu Bhasin
Keyword(s):  
Deep Learning ◽  
Genetic Mutations

Plant Ecophysiology: Linking Pattern and Process—a Review

1997 ◽  
Vol 45 (2) ◽  
pp. 351
Author(s):  
Jann Williams ◽  
Derek Eamus
Keyword(s):  
Plant Ecophysiology ◽  
Elevated Atmospheric Co2 ◽  
Pattern And Process ◽  
Ecological Society ◽  
Technological Advances ◽  
Ecological Patterns ◽  
Underlying Mechanisms ◽  
Underlying Processes

Introduction The Symposium ‘Plant Ecophysiology: Linking Pattern and Process’ was held as part of the 1995 meeting of the Ecological Society of Australia (ESA). The aim of the Symposium was to highlight work that examined mechanisms underlying ecological patterns and linked them to ecological and/or evolutionary processes. Another aim was to expose ecologists to the methods available to examine the mechanistic and functional basis of the organisms and systems under study. Much early ecological research has been concerned with the description and classification of vegetation types, with relatively little effort devoted to understanding the underlying processes that determined distribution. A more quantitative approach based on knowledge of the underlying mechanisms can further improve understanding of systems. This was amply demonstrated in a Symposium on the effects of elevated atmospheric CO2 on vegetation dynamics, also held in conjunction with an ESA meeting (see papers in Australian Journal of Botany, Volume 40(2)). Recent technological advances have stimulated rapid progress in the field of ecophysiology and hence an increasing process-based understanding is developing. The 1995 Symposium was seen as an opportunity to highlight more recent work in what is a relatively new field in Australia (albeit a well-established field in Europe and America), especially in situ studies and research from relatively little studied areas like northern Australia. The response to the Symposium was encouraging, with 25 spoken papers and poster-papers presented. In this paper, some of the unifying aspects of the papers presented in the symposium are drawn together, and placed in the context of likely future developments in ecophysiology in Australia. Based on this analysis, future directions and gaps are identified.

scholarly journals Application of BERT to Enable Gene Classification Based on Clinical Evidence

2020 ◽  
Vol 2020 ◽  
pp. 1-13
Author(s):  
Yuhan Su ◽  
Hongxin Xiang ◽  
Haotian Xie ◽  
Yong Yu ◽  
Shiyan Dong ◽  
...  
Keyword(s):  
Clinical Evidence ◽  
Genetic Mutations ◽  
Data Presentation ◽  
Sequencing Technologies ◽  
Practical Tool ◽  
Logarithmic Loss ◽  
Manual Classification ◽  
High Repeatability ◽  
Generation Sequencing

The identification of profiled cancer-related genes plays an essential role in cancer diagnosis and treatment. Based on literature research, the classification of genetic mutations continues to be done manually nowadays. Manual classification of genetic mutations is pathologist-dependent, subjective, and time-consuming. To improve the accuracy of clinical interpretation, scientists have proposed computational-based approaches for automatic analysis of mutations with the advent of next-generation sequencing technologies. Nevertheless, some challenges, such as multiple classifications, the complexity of texts, redundant descriptions, and inconsistent interpretation, have limited the development of algorithms. To overcome these difficulties, we have adapted a deep learning method named Bidirectional Encoder Representations from Transformers (BERT) to classify genetic mutations based on text evidence from an annotated database. During the training, three challenging features such as the extreme length of texts, biased data presentation, and high repeatability were addressed. Finally, the BERT+abstract demonstrates satisfactory results with 0.80 logarithmic loss, 0.6837 recall, and 0.705 F -measure. It is feasible for BERT to classify the genomic mutation text within literature-based datasets. Consequently, BERT is a practical tool for facilitating and significantly speeding up cancer research towards tumor progression, diagnosis, and the design of more precise and effective treatments.

Form and classification of motor endings in mammalian muscle spindles

1985 ◽  
Vol 225 (1239) ◽  
pp. 195-212 ◽  
Keyword(s):  
Muscle Fibre ◽  
Fibre Type ◽  
Muscle Spindles ◽  
Muscle Fibre Type ◽  
Motor Axon ◽  
Muscle Fibres ◽  
Intrafusal Muscle ◽  
Axon Terminals ◽  
Hindlimb Muscle

The presynaptic features of 234 motor endings supplied to cat hindlimb muscle spindles have been studied in teased, silver preparations, and the postsynaptic features of a further 27 endings have been studied in serial, 1 μm thick, transverse sections. In the presynaptic study motor endings received by the three types of intrafusal muscle fibre were compared with the endings supplied to spindles by the various functional categories of motor axon. Three forms of motor ending were found that had significantly different presynaptic features. These forms correspond closely to those previously identified in the literature as p 1 (β), p 2 (dynamic γ) and trail (static γ). The results of the postsynaptic study showed that the degree of indentation of the intrafusal muscle fibres by motor axon terminals increases with greater distance from the primary ending, irrespective of muscle-fibre type. We conclude that the postsynaptic form of intrafusal motor endings is determined by distance from primary ending and muscle-fibre type. It is not determined by type of motor axon, and cannot be correlated with presynaptic form so as to produce a unified classification of intrafusal motor endings.

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