steinert found 5 records - Provincial Hospitals Library Catalogue

Genetic neuromuscular disorders : a case-based approach

https://libcat.nshealth.ca/en/permalink/provcat33906

Corrado Angelini. --Cham, Switzerland: Springer , c2014.

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Location: Online

This book describes the genetic diagnostic entities of neuromuscular disorders. Each neuromuscular syndrome is presented clinically as a case study, accompanied by text reviewing different molecular defects, DNA research and differential diagnosis. This collection of neuromuscular disorders features the different clinical phenotypes related to each genotype and are representative of the whole spectrum of a genetic muscle disorder, helping the clinician and neuromuscular physician to make a diag…

Available Online: View e-Book

Author: Angelini, C.

Responsibility: Corrado Angelini

Place of Publication: Cham, Switzerland

Publisher: Springer

Date of Publication: c2014

Physical Description: 1 online resource (xxi, 384 pages)

ISBN: 9783319075006 (electronic bk.); 9783319074993

Subjects (MeSH): Genetic Diseases, Inborn - Case Reports; Neuromuscular Diseases - genetics - Case Reports

Subjects (LCSH): Neuromuscular diseases - Genetic aspects - Case studies; Neurology

Abstract: This book describes the genetic diagnostic entities of neuromuscular disorders. Each neuromuscular syndrome is presented clinically as a case study, accompanied by text reviewing different molecular defects, DNA research and differential diagnosis. This collection of neuromuscular disorders features the different clinical phenotypes related to each genotype and are representative of the whole spectrum of a genetic muscle disorder, helping the clinician and neuromuscular physician to make a diagnosis. Key points for each genetic disease are identified to suggest treatment, when available, or the main clinical exams useful in follow-up of patients. Genetic Neuromuscular Disorders: A Case-Based Approach is aimed at neuromuscular physicians and neurology residents.

Contents: Part I. Muscular Dystrophies -- Duchenne Muscular Dystrophy -- Duchenne Muscular Dystrophy Carrier -- Becker Muscular Dystrophy -- Emery-Dreifuss Muscular Dystrophy type 1 -- Emery-Dreifuss Muscular Dystrophy type 2 -- Limb Girdle Muscular Dystrophy type 1B -- Limb Girdle Muscular Dystrophy type 1C -- Limb Girdle Muscular Dystrophy type 1F -- Limb Girdle Muscular Dystrophy type 2A -- Limb Girdle Muscular Dystrophy type 2B -- Limb Girdle Muscular Dystrophy type 2C -- Limb Girdle Muscular Dystrophy type 2D -- Limb Girdle Muscular Dystrophy type 2E -- Limb Girdle Muscular Dystrophy type 2F -- Limb Girdle Muscular Dystrophy type 2I -- Limb Girdle Muscular Dystrophy type 2K -- Limb Girdle Muscular Dystrophy type 2N -- Congenital Muscular Dystrophy type 1A -- Congenital Muscular Dystrophy type 1C -- Congenital Muscular Dystrophy with rigid spine -- Congenital Muscular Dystrophy with integrin-alpha-7 deficiency -- Congenital Muscular Dystrophy, Ullrich type -- Bethlem myopathy -- Facio Scapulo Humeral Muscular Dystrophy type 1A -- Facio Scapulo Humeral Muscular Dystrophy type 2 -- Section 2: Congenital Myopathies -- Congenital Multi-Mini-Core Myopathy -- Congenital Central-Core Myopathy with Malignant Hyperthermia -- Congenital Centronuclear Myopathy type 1 -- Congenital Hyaline Body Myopathy -- Congenital Myotubular Myopathy -- Congenital Nemaline Myopathy type 2 -- Congenital Fiber Type Disproportion type 1 -- Congenital Fiber Type Disproportion -- Congenital Myofibrillar Myopathy type 1 -- Congenital Myofibrillar Myopathy type 6 -- Congenital Tubular Aggregate Myopathy -- Hereditary Inclusion Body Myopathy type 2 -- Section 3: Ion Channel Disorders -- Myotonic Dystrophy type 1, Steinert Disease -- Congenital Myotonic Dystrophy -- Myotonic Dystrophy type 2, Proximal Myotonic Myopathy -- Congenital Myotonia, Thomsen Disease -- Hyperkalemic Periodic Paralysis -- Hypokalemic Periodic Paralysis type 1 -- Slow-channel Congenital Myasthenic Syndrome -- Congenital Myasthenic Syndrome -- Brody Disease -- Section 4: Metabolic Myopathies -- Glycogenosis type 2, Pompe Disease -- Glycogenosis type 3, Cori-Forbes Disease -- Glycogenosis type 5, McArdle Disease -- Danon Disease -- Kearns-Sayre Syndrome -- Chronic Progressive External Ophthalmoplegia -- MELAS (Myopathy, Encephalopathy, Lactic Acidosis, Stroke-like) -- Leigh Syndrome due to COX Deficiency -- Mitochondrial Encephalopathy with COX Deficiency -- Coenzyme Q10 Deficiency -- Multiple Symmetrical Lipomatosis -- NARP (Neuropathy, Ataxia, Retinitis Pigmentosa) -- SANDO (Sensory Ataxic Neuropathy, Dysarthria, Ophthalmoparesis) -- Systemic Primary Carnitine Deficiency -- Neutral Lipid Storage Disease with Ichthyosis -- Neutral Lipid Storage Disease with Myopathy -- Multiple Acyl-CoA Dehydrogenase Deficiency -- Carnitine-Palmitoyl-Transferase-II Deficiency -- Niemann-Pick Disease type C1 -- Section 5: Neurogenic Disorders -- Spinal Muscular Atrophy type 1, Werdnig-Hoffmann Disease -- Spinal Muscular Atrophy type 2 -- Spinal Muscular Atrophy type 3, Kugelberg-Welander Disease -- Spinal Bulbar Muscular Atrophy, Kennedy Disease -- Charcot-Marie-Tooth Disease type 1A -- Charcot-Marie-Tooth Disease type 1B -- Charcot-Marie-Tooth Disease neuronal type -- Charcot-Marie-Tooth Disease type 4A -- Charcot-Marie-Tooth Disease with pyramidal features -- Charcot-Marie-Tooth Disease type X1 -- Distal Spinal Muscular Atrophy -- Hereditary Neuropathy with Pressure Palsies -- Friedreich Ataxia -- Spastic Ataxia, Charlevoix-Saguenay type -- Ataxia-Telangiectasia, Louis-Bar Syndrome -- Spastic Paraparesis type 4 -- Spastic Paraparesis type 7 -- Optic Atrophy Plus Syndrome -- Amyotrophic Lateral Sclerosis type 1 -- Amyotrophic Lateral Sclerosis.

Format: e-Book

Location: Online

Ocular disease : mechanisms and management

https://libcat.nshealth.ca/en/permalink/provcat31547

[edited by] Leonard A. Levin, Daniel M. Albert. --[Philadelphia]: Saunders/Elsevier , 2010.

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Location: Online

Ocular Disease-a newly introduced companion volume to the classic Adlers Physiology of the Eye-correlates basic science and clinical management to describe the how and why of eye disease processes and the related best management protocols. Editors Leonard A. Levin and Daniel M. Albert-two of the world's leading ophthalmic clinician-scientists-have recruited as contributors the most expert and experienced authorities available in each of the major areas of ophthalmic disease specific to ophthalm…

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Other Authors: Levin, Leonard A; Albert, Daniel M

Responsibility: [edited by] Leonard A. Levin, Daniel M. Albert

Place of Publication: [Philadelphia]

Publisher: Saunders/Elsevier

Date of Publication: 2010

Physical Description: 1 online resource (xv, 687 p.)

ISBN: 9780702029837

Subjects (MeSH): Eye Diseases; Eye - physiopathology

Subjects (LCSH): Ophthalmology; Eye - Diseases; Eye - Diseases - Treatment; Eye Diseases; Eye - physiopathology; Ophtalmologie; Œil - Maladies; Œil - Maladies - Traitement

Notes: "Expert consult"--Cover

Abstract: Ocular Disease-a newly introduced companion volume to the classic Adlers Physiology of the Eye-correlates basic science and clinical management to describe the how and why of eye disease processes and the related best management protocols. Editors Leonard A. Levin and Daniel M. Albert-two of the world's leading ophthalmic clinician-scientists-have recruited as contributors the most expert and experienced authorities available in each of the major areas of ophthalmic disease specific to ophthalmology: retina, cornea, cataract, glaucoma, uveitis, and more. The concise chapter structure features liberal use of color-with 330 full-color line artworks, call-out boxes, summaries, and schematics for easy navigation and understanding. In print and online at expertconsult.com, this comprehensive resource provides you with a better and more practical understanding of the science behind eye disease and its relation to treatment. Includes access to the fully searchable text online at expertconsult.com, along with images and references. Covers all areas of disease in ophthalmology including retina, cornea, cataract, glaucoma, and uveitis for the comprehensive information you need for managing clinical cases. Presents a unique and pragmatic blend of necessary basic science and clinical application to serve as a clinical guide to understanding the cause and rational management of ocular disease

Contents: Loss of corneal transparency / Russell L McCally -- Abnormalities of corneal wound healing / Audrey M Bernstein -- Wound healing after laser in situ keratomileusis and photorefractive keratectomy / Fabricio Witzel de Medeiros and Steven E Wilson -- Genetics and mechanisms of hereditary corneal dystrophies / John D Gottsch -- Fuchs' endothelial corneal dystrophy / Vinay Gutti, David S Bardenstein, Sudha Iyengar, and Jonathan H Lass -- Keratoconus / M Cristina Kenney and Ronald N Gaster -- Infectious keratitis / Michael S Gilmore, Susan R Heimer, and Ai Yamada -- Corneal graft rejection / Daniel R Saban, Mohammad H Dastjerdi, and Reza Dana -- Corneal edema / Daniel G Dawson and Henry F Edelhauser -- Corneal angiogenesis and lymphangiogenesis / Chih-Wei Wu, David Ellenberg, and Jin-Hong Chang -- Ocular surface restoration / Julie T Daniels, Genevieve A Secker, and Alex J Shortt -- Herpetic keratitis / Pranita P Sarangi and Barry T Rouse -- Ocular allergy / Neal P Barney, Ellen B Cook, James L Stahl, and Frank M Graziano -- The lacrimal gland and dry-eye disease / Darlene A Dartt -- Immune mechanisms of dry-eye disease / Austin K Mircheff and Joel E Schechter -- Disruption of tear film and blink dynamics / Jianhua Wang and Anuj Chauhan -- Abnormalities of eyelid and tear film lipid / Gary N Foulks and Douglas Borchman -- Dry eye: abnormalities of tear film mucins / Ann-Christin Albertsmeyer and Ilene K Gipson -- Steroid-induced glaucoma / Abbot F Clark, Xinyu Zhang, and Thomas Yorio -- Biomechanical changes of the optic disc / Ian A Sigal, Michael D Roberts, Michael JA Girard, Claude F Burgoyne, and J Crawford Downs -- Pigmentary dispersion syndrome and glaucoma / Michael G Anderson -- Abnormal trabecular meshwork outflow / Paul A Knepper and Beatrice YJT Yue -- Pressure-induced optic nerve damage / James C Tsai -- Exfoliation (pseudoexfoliation) syndrome / Robert Ritch and Ursula Schultzer-Schrehardt -- Angle closure glaucoma / Shamira Perera, Nishani Amerasinghe, and Tin Aung -- Central nervous system changes in glaucoma / Yeni N Yücel and Neeru Gupta -- Retinal ganglion cell death in glaucoma / Heather R Pelzel and Robert W Nickells -- Wound-healing responses to glaucoma surgery / Stelios Georgoulas, Annegret Dahlmann-Noor, Stephen Brocchini, and Peng Tee Khaw -- Blood flowchanges in glaucoma / Leopold Schmetterer and Mark Lesk -- Biochemical mechanisms of age-related cataract / David C Beebe, Ying-Bo Shui, and Nancy M Holekamp -- Posterior capsule opacification / Judith West-Mays and Heather Sheardown -- Diabetes-associated cataracts / Peter F Kador -- Steroid-induced cataract / Abbas Samadi -- Presbyopia / Jane F Koretz -- Restoration of accommodation / Stephen D McLeod and Michelle Trager Cabrera -- Intraoperative floppy iris syndrome / Amy Lin and Roger F Steinert -- Optic neuritis / John R Guy and Xiaoping Qi -- Abnormal ocular motor control / James A Sharpe and Arun Sundaram -- Idiopathic intracranial hypertension (idiopathic pseudotumor cerebri) / Deborah M Grzybowski and Martin Lubow -- Giant cell arteritis / Lynn K Gordon -- Ischemic optic neuropathy / Helen Danesh-Meyer -- Optic nerve axonal injury / Daniela Toffoli and Leonard A Levin -- Leber's hereditary optic neuropathy / Alfredo Sadun and Alice Kim -- Optic atrophy / Nathan T Tagg and Randy H Kardon -- Nystagmus / Frank Proudlock and Irene Gottlob -- Toxic optic nerve neuropathies / FT "Fritz" Fraunfelder and FW "Rick" Fraunfelder -- Uveal melanoma / Zelia MS Correa and J William Harbour -- Genetics of hereditary retinoblastoma / Alejandra G de Alba Campomanes and Joan M O'Brien -- Molecular basis of low-penetrance retinoblastoma / Katie Matatall and J William Harbour -- Vasculogenic mimicry / Robert Folberg and Andrew J Maniotis -- Treatment of choroidal melanoma / Aimee V Chappelow and Andrew P Schachat -- Sebaceous cell carcinoma / Alon Kahana, Jonathan T Pribila, Christine C Nelson, and Victor M Elner -- Neurofibromatosis / Robert Listernick and David H Gutmann -- Phthisis bulbi / Ingo Schmack, Hans E Volcker, and Hans E Grossniklaus -- Myopia / Terri L Young -- Pathogenesis of Graves' ophthalmopathy / A Reagan Schiefer and Rebecca S Bahn -- Duane syndrome / Joseph L Demer -- Amblyopia / Robert F Hess and Nigel Daw -- Strabismus / Christopher S von Bartheld, Scott A Croes, and L Alan Johnson -- Albinism / Gerald F Cox and Anne B Fulton -- Aniridia / Elias I Traboulsi -- Color vision defects / Maureen Neitz and Jay Neitz -- Acute retinal vascular occlusive disorders / Sohan Singh Hayreh -- Retinal photic injury: laboratory and clinical findings / Daniel Organisciak and Marco Zarbin -- Vascular damage in diabetic retinopathy / Timothy S Kern and Suber Huang -- Neovascularization in diabetic retinopathy / Corey B Westerfeld and Joan W Miller -- Diabetic macular edema / Pascale Massin, Michel Paques, and Jean-Antoine Pournaras --Dry age-related macular degeneration and age-related macular degeneration pathogenesis / Marco Zarbin and Janet S Sunness -- Neovascular age-related macular degeneration / David E Lederer, Scott W Cousins, and Karl G Csaky -- Inhibition of / Anthony P Adamis and Adrienne Berman -- Retinal detachment / Steven K Fisher and Geoffrey P Lewis -- Retinopathy of prematurity / Mary Elizabeth Hartnett and Cynthia A Toth -- Retinal energy metabolism / Robert A Linsenmeier -- Retinitis pigmentosa and related disorders / Eric A Pierce -- Visual prostheses and other assistive devices / Muhammad Ali Memon and Joseph F Rizzo III -- Paraneoplastic retinal degeneration / Grazyna Adamus -- Cellular repopulation of the retina / Budd AL Tucker, Michael J Young, and Henry J Klassen -- Proliferative vitreoretinopathy / Clyde Guidry -- Immunologic mechanisms of uveitis / Steven Yeh, Zhuqing Li, and Robert B Nussenblatt -- Herpesvirus retinitis / Sally S Atherton and Mei Zheng -- Sympathetic ophthalmia / Mirunalini Kumaradas and Narsing A Rao -- Scleritis / Srilakshmi M Sharma and James T Rosenbaum -- Infectious uveitis / Pooja Bhat, Allen Tony Jackson, and C Stephen Foster -- Ocular sarcoidosis / Russell N Van Gelder and Suzanne M Dintzis