81. Congenital Myopathies Penn State Hershey Medical Center provides world class care and services to patients. http://www.hmc.psu.edu/healthinfo/c/congenitalmyopathies.htm

82. CONGENITAL MYOPATHIES AND ANESTHESIA Pediatric Oncall CONGENITAL myopathies AND ANESTHESIA Pediatric Oncall. http://www.pediatriconcall.com/fordoctor/diseasesandcondition/conmyoAnesthesia.a

DOCTOR CORNER Search GO Home Back Ask Doctor Post Query Education Image Gallery Teaching Files Question of the day Specialist Answers Latest Updates Conference Journal Search Original Articles Clinical Trials Search For Pediatricians Hospitals Special Schools Drug Index ... Sign Out CONGENITAL MYOPATHIES AND ANESTHESIA UserName Password New Register Forgot password Dr Sunita Goel Lecturer in Anaesthesiology BJ Wadia Childrens hospital MYOPATHIES: Myopathies are primary diseases of striated muscles in which biochemical, morphological or neurophysiological changes occur singly or in combination. They are characterized by the description of the histologic lesion and the clinical and genetic picture. Congenital myopathies are mainly of 3 types: Central core disease Nemaline myopathy Centronuclear Myopathy Central core disease: It is a rare disorder. It is so named because of the metabolically inactive cores present in the muscle fibres. Patients have decreased fetal movements and breech presentation. They have hypotonia and delay in motor milestones with increased proximal weakness. In childhood, they have difficulty in climbing stairs and getting up from the floor. Legs are more affected than arms. Investigations reveal increased CPK levels. EMG shows myopathic pattern and muscle biopsy shows fibres with single or multiple central or eccentric discrete zones devoid of oxidative enzymes.

83. Myopathies myopathies. Progressive Proximal Weakness. Click here to return. http://daffodil.uthscsa.edu/faculty/dumitru/emgs/myopathies/Default.htm

84. UpToDate Metabolic Myopathies: Disorders Of Lipid Metabolism INTRODUCTION — Patients with metabolic myopathies have underlying deficiencies The clinical manifestations of the myopathies resulting from nonlysosomal http://patients.uptodate.com/topic.asp?file=pedirheu/7518

85. UpToDate Drug-induced Myopathies Druginduced myopathies. Marc L Miller, MD. UpToDate performs a continuous review of over 330 journals and other resources. Updates are added as important http://patients.uptodate.com/topic.asp?file=muscle/6981

86. FIRSTConsult - Sdfdsf FIRSTConsult, Muscular dystrophies and related myopathies (Medical Condition File). Published for medical students and primary healthcare providers by http://www.firstconsult.com/?action=view_article&id=1014471&type=101&bref=1

87. Core Curriculum - POSNA Congenital myopathies. pdf Objectives 1. Describe clinical features which accompany congenital myopathies 2. Discuss pertinent anesthetic risk factors when http://www.posna.org/index?service=page/coreCurriculum&article=congenitalMyopath

88. Summary Folders Hereditary myopathies Acquired myopathies Developmental disorders of muscle Complications of myopathies Other related disorders. http://www.medlink.com/PublicCIP.asp?UID=0112&MODE=8&access=public&code=

89. IngentaConnect Drug-induced Myopathies Apart from isolated myalgias, druginduced myopathies can be divided into five In some cases (eg, statin-induced myopathies), risk factors have been http://www.ingentaconnect.com/content/apl/eds/2002/00000001/00000001/art00008

Home About Ingenta Ingenta Labs Help For Publishers Why go online? Why choose IngentaConnect? Why choose CustomConnect? Access and authentication ... Contact us For Researchers About IngentaConnect Search and browse Publications available Accessing articles ... Register For Librarians Why choose IngentaConnect? Why choose IngentaConnect Premium? Activating Subscriptions Purchasing articles ... Browse Publications Drug-induced myopathies Author: Bannwarth B. Source: Expert Opinion on Drug Safety , Volume 1, Number 1, 1 May 2002, pp. 65-70(6) Publisher: Ashley Publications View Table of Contents full text options Abstract: Keywords: adverse effects corticosteroids drugs myopathies ... statins Document Type: Review article Affiliations: Department of Rheumatology, Groupe Hospitalier Pellegrin, 33076 Bordeaux Cedex, France, Tel: +33 556 795 556, Fax: +33 556 930 407, Email: bernard.bannwarth@u-bordeaux2.fr The full text is free. View now: View Table of Contents Back to top Terms and Conditions Page Help Quick Search Electronic content Fax/Ariel content Journal or book title Sign in: User name Password Remember me forgotten your password?

90. Gene Expression In Inflammatory Myopathies The goals of Gene Expression in Inflammatory myopathies are (1) to formulate and validate hypotheses relevant to the pathogenesis of the inflammatory http://www.chip.org/chip/research/projects_geneexpression.html

Gene Expression in Inflammatory Myopathies Contact Us about this project Summary The goals of Gene Expression in Inflammatory Myopathies are: (1) to formulate and validate hypotheses relevant to the pathogenesis of the inflammatory myopathies through the use of DNA microarrays and measurement of large-scale muscle tissue gene expression, (2) to characterize patterns of muscle gene expression among distinct clinical subtypes of inflammatory myopathies and correlate these patterns with clinical phenotypes, and (3) to explore possible gene function for genes, cDNAs, and expressed sequence tags (ESTs) of unknown function through computational techniques applied to these expression profiles. High-density oligonucleotide microarrays are used to assay gene expression in muscle biopsy specimens from patients with inflammatory myopathies. Data analysis of differential gene expression provides leads relevant to pathogenesis that will then be validated biologically. Gene expression profiles are linked with clinical data to refine disease classification. This work may provide further understanding of the pathogenesis of inflammatory myopathies with a consequent generation of hypotheses for treatment and may contribute to clinical classification of this group of diseases. Staff Steven A. Greenberg

91. Project: Nemaline Myopathies In Human And Mouse, Unique Diseases Of Sarcomere Pr Project Nemaline myopathies in human and mouse, unique diseases of sarcomere proteins and contractile unit; clinical, physiological, histological and http://www.onderzoekinformatie.nl/en/oi/nod/onderzoek/OND1295744/toon

Login English KNAW Research Information NOD - Dutch Research Database ... Research entire www.onderzoekinformatie.nl site fuzzy match Project: Nemaline myopathies in human and mouse, unique diseases of sarcomere proteins and contractile unit; clinical, physiological, histological and genetic characteristics Print View Titel Nemaline myopathie«n bij mens en muis, unieke ziekten van sarcomeer eiwitten en de contractiele unit; klinische, fysiologische, histologische en genetische kenmerken Abstract The main complaint of a patient with muscular disease is weakness. Muscle slowness is a problem in the field of neuromuscular diseases which has not yet been described before. In some nemaline muscular disease patients there seems to occur of form of muscle slowness (in addition to muscle weakness), due to which they are e.g. not able to intercept a fall. It will be studied if this also occurs in the rest of the nemaline muscular disease patients known to us and if this phenomenon is related to a genetic cause of nemaline muscular disease. In addition nemaline mice will be used in order to characterize muscle slowness even more precisely and to correlate it with microscopic muscle study. Also the mice will enable us to study in detail if muscle weakness and possibly also slowness may be influenced by drugs. Period Status completed Related organisations Collaboration: VU University Medical Center (VU) Commissioner: Department of Neurology (KUN) Financier: Prinses Beatrix Fonds Related persons

92. HighWire -- Browse Journals - Mitochondrial Myopathies Browse Journals publishing on Mitochondrial myopathies, (return to Topic List Journals focusing on Mitochondrial myopathies (in order by highest focus) http://highwire.stanford.edu/lists/topic_dir/608683/608684/610114/610136/610158/

ANNOUNCEMENT: CHECK OUT THE PREVIEW RELEASE OF OUR NEW WEB SITE! My Favorite Journals ( HW-hosted journals HW-hosted Medline Author: Keyword(s): Year: Vol: Page: Home Adv. Search For Institutions For Publishers ... Sign in or register for access to all HighWire Press customization features Browse Journals publishing on Mitochondrial Myopathies: (return to Topic List page) Mitochondrial Myopathies Chronic Progressive External Ophthalmoplegia Mitochondrial Encephalomyopathies Sort by: Alphabet Frequency of articles in Mitochondrial Myopathies Focus of journal on Mitochondrial Myopathies What's this? Journals focusing on Mitochondrial Myopathies (in order by highest focus) Journal of Histochemistry and Cytochemistry info free ISSUES Journal of Medical Genetics ... Muscular Diseases Mitochondrial Myopathies Home Adv. Search For Institutions For Publishers ... partners/suppliers

93. HighWire -- Browse Journals - Congenital Structural Myopathies Browse Journals publishing on Congenital Structural myopathies, (return to Topic List page) Central Core Myopathy, Nemaline myopathies http://highwire.stanford.edu/lists/topic_dir/608683/618131/626183/626251/626291/

ANNOUNCEMENT: CHECK OUT THE PREVIEW RELEASE OF OUR NEW WEB SITE! My Favorite Journals ( HW-hosted journals HW-hosted Medline Author: Keyword(s): Year: Vol: Page: Home Adv. Search For Institutions For Publishers ... Sign in or register for access to all HighWire Press customization features Browse Journals publishing on Congenital Structural Myopathies: (return to Topic List page) Congenital Structural Myopathies Central Core Myopathy Nemaline Myopathies Sort by: Alphabet Frequency of articles in Congenital Structural Myopathies Focus of journal on Congenital Structural Myopathies What's this? Journals focusing on Congenital Structural Myopathies (in order by highest focus) Human Molecular Genetics info free ISSUES Journal of Biological Chemistry ... Muscular Diseases Congenital Structural Myopathies Home Adv. Search For Institutions For Publishers ... partners/suppliers

94. Lipid Storage Myopathies (from Muscle Disease) --  Encyclopædia Britannica Lipid storage myopathies (from muscle disease) Lipid storage myopathy is a potentially confusing term because the more severe forms of muscle disease ( e eg http://www.britannica.com/eb/article-58898

Home Browse Newsletters Store ... Subscribe Already a member? Log in Content Related to this Topic This Article's Table of Contents Expand all Collapse all Introduction Indications of muscle disease Muscle weakness Signs and symptoms Assessment Classification of muscle weakness Upper motor neuron disease ... Inflammatory myopathies Endocrine and metabolic myopathies Hormones Vitamin D deficiency Mitochondrial myopathies Glycogenoses changeTocNode('toc58893','img58893'); Lipid storage myopathies Myotonic diseases The periodic paralyses Fatigue ... Print this Table of Contents Shopping Price: USD $1495 Revised, updated, and still unrivaled. The Official Scrabble Players Dictionary (Hardcover) Price: USD $15.95 The Scrabble player's bible on sale! Save 30%. Merriam-Webster's Collegiate Dictionary Price: USD $19.95 Save big on America's best-selling dictionary. Discounted 38%! More Britannica products muscle disease  Encyclopædia Britannica Article Page 18 of 22 Lipid storage myopathy is a potentially confusing term because the more severe forms of muscle disease ( e.g.

95. Mitochondrial Myopathies (from Muscle Disease) --  Encyclopædia Britannica Mitochondrial myopathies (from muscle disease) The mitochondria are the cellular structures in which biochemical processes produce energy (in the form of http://www.britannica.com/eb/article-58896

Home Browse Newsletters Store ... Subscribe Already a member? Log in Content Related to this Topic This Article's Table of Contents Expand all Collapse all Introduction Indications of muscle disease Muscle weakness Signs and symptoms Assessment Classification of muscle weakness Upper motor neuron disease ... Inflammatory myopathies Endocrine and metabolic myopathies Hormones Vitamin D deficiency changeTocNode('toc58893','img58893'); Mitochondrial myopathies Glycogenoses Lipid storage myopathies Myotonic diseases ... Print this Table of Contents Shopping Price: USD $1495 Revised, updated, and still unrivaled. The Official Scrabble Players Dictionary (Hardcover) Price: USD $15.95 The Scrabble player's bible on sale! Save 30%. Merriam-Webster's Collegiate Dictionary Price: USD $19.95 Save big on America's best-selling dictionary. Discounted 38%! More Britannica products muscle disease  Encyclopædia Britannica Article Page 16 of 22 The mitochondria muscle disease...

96. Northwestern University Medical School Neuromuscular Disorder Program Muscular Dystrophies Motor Neuron Diseases Inflammatory myopathies Diseases of the neuromuscular Junction myopathies due to Endocrine Abnormalities http://www.neurogenetics.northwestern.edu/index.jsp?ca=patienthome&mp=patient|my

97. Northwestern University Medical School Neuromuscular Disorder Program myopathies due to Endocrine Abnormalities Diseases of Peripheral Nerve Other myopathies Inflammatory myopathies. Dermatomyositis. Polymyositis http://www.neurogenetics.northwestern.edu/index.jsp?ca=patienthome&mp=patient|de

98. Classification Of Metabolic Myopathies Metabolic myopathies are a group of hereditary muscle disorders and the result According to the biochemical classification, the metabolic myopathies are http://www.charite.de/ch/medgen/eumedis/neurogenetics05/class-metabolic-myopathi

Home Up Up topic About Clinical and genetic aspect of autosomal dominant cerebellar ataxia type II (ADCA II) Autosomal dominant cerebellar ataxias Physiopathological aspects of spinocerebellar ataxias ... Clinical and genetic aspects of Congenital Muscular Dystrophy Classification of metabolic myopathies Pathological aspects of metabolic myopathy disorders Glycogen Storage Myopathies: from clinical features to treatment Font size: Classification of metabolic myopathies Layachi Chabraoui Table of Contents Glycogen storage diseases (GSDs) Lipid storage diseases (LSD) Disorders of purine metabolism Mitochondrial disorders ... figures These diseases are grouped into abnormalities affecting glycogen, lipids, purines, or mitochondrial pathways metabolism. According to the biochemical classification, the metabolic myopathies are divided into 4 categories, as follows: Glycogen storage diseases (GSDs) Glycogen is the main immediate source of energy in the muscle. It is a form of carbohydrate storage: muscle cells transport glucose from the circulating blood, synthesize and store glycogen. When energy is required for muscle contraction, glycogen is degraded to glucose and provides the energy required for muscle work. Any disturbance in either the synthesis or the degradation of glycogen could result in glycogen storage diseases commonly named glycogenoses. To date, 11 different diseases caused by an underlying defect in glycogen synthesis, glycogenolysis (and glycolysis) have been identified. The glycogen is accumulated in muscle as a consequence of the defect. GSDs are named according to their specific defective enzyme function, an eponym, or by Roman numerals that correlate to the time of their discovery.

99. Glycogen Storage Myopathies From Clinical Features To Treatment Glycogen storage myopathies are a group of inborn errors of metabolism Recently, three major clinical sindromes of glycogen storage myopathies have been http://www.charite.de/ch/medgen/eumedis/neurogenetics05/gly-stor-myopathies.html

Home Up Up topic About Clinical and genetic aspect of autosomal dominant cerebellar ataxia type II (ADCA II) Autosomal dominant cerebellar ataxias Physiopathological aspects of spinocerebellar ataxias ... Pathological aspects of metabolic myopathy disorders Glycogen Storage Myopathies: from clinical features to treatment Font size: Glycogen Storage Myopathies: from clinical features to treatment Antonio Toscano Table of Contents General principles Evaluation of patients with suspected Glycogen Storage Myopathy Therapeutic trials figures ... References General principles Glycogen storage myopathies are a group of inborn errors of metabolism characterized by glycogen accumulation in muscular tissues carrying enzyme defects of the glycogenolytic or glycolytic pathways. In skeletal muscle, glycogen content is about 1g/100g fresh muscle and it is utilized as a major source of energy production for the contraction-relaxation mechanism. Anaerobic glycolysis is primarily involved during conditions of high intensity isometric muscular activity and an enzyme deficiency in glycogen or glucose pathways could induce a bioenergetic crisis in muscle. Recently, three major clinical sindromes of glycogen storage myopathies have been recognized: the first is fixed with slowly progressive weakness,often accompanied by involvement of other organs (i.e. peripheral nerve, heart, brain etc.), the second form presents with exercise intolerance, recurrent, acute and reversible muscle dysfunction, rhabdomyolisis and myoglobinuria whereas the third one may show a mixed pattern (2).

100. United Mitochondrial Disease Foundation - Medical Article List By Subject Dalakas ; MC ; 696 ; Retroviruses and inflammatory myopathies in humans and Lindal ; S ; 786 ; Mitochondrial diseases and myopathies a series of muscle http://biochemgen.ucsd.edu/umdf/mito-myopa.htm

The UMDF Medical Article List Subject: Mitochondrial Myopathies Back to the Subject List United Mitochondrial Disease Foundation We welcome any suggested additions to our list. Last updated: 26-Jun-98 REFERENCE FORMAT: Author Lastname; Firstname; Article Number; Article Title; Journal or Book; Year; Volume; Page Numbers Aasly ; J ; 2711 ; Early mitochondrial changes in chronic progressive ocular myopathy. ; Eur Neurol ; 1990 ; 30(6) ; 314-8 Abe ; K ; 5672 ; Measurement of tissue oxygen consumption in patients with mitochondrial myopathy by noninvasive tissue oximetry. ; Neurology ; 1997 ; 49(3) ; 837-41 Abe ; K ; 1027 ; Marked reduction in CSF lactate and pyruvate levels after CoQ therapy in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). ; Acta Neurologica Scandinavica ; 1991 ; 83(6) ; 356-9 Abramowicz ; MJ ; 3109 ; Pernicious anaemia and hypoparathyroidism in a patient with Kearns- Sayre syndrome with mitochondrial DNA duplication. ; J Inherit Metab Dis ; 1996 ; 19(2) ; 109-111

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