New-opathies : an emerging molecular reclassification of human disease / [edited by] Errol C. Friedberg ... [et al.].

Format:

Book

Contributor:

Friedberg, Errol C.

Language:

English

Subjects (All):

Diseases.

Medical genetics.

Nosology.

Physical Description:

1 online resource (310 p.)

Edition:

1st ed.

Place of Publication:

New Jersey : World Scientific, c2012.

Language Note:

English

Summary:

This book presents new insights into the etiology and pathogenesis of systemic diseases recently discovered to be due to specific defects in molecular assemblies, organelles, or other subcellular structures. This new information, of great importance to medical students, physicians, and basic scientists, has not been incorporated into major medical textbooks.The volume will be an important resource for medical or graduate students, investigators and physicians, as it covers major new insights into diverse diseases and concepts missing from pathology textbooks. Each of the eight chapters in the

Contents:

Contents; Preface; Acknowledgements; List of Contributors; Chapter 1 Laminopathies William T. Dauer and Howard J.Worman; NEW "OPATHIES" FOR A NEW MILLENNIUM; THE NUCLEAR ENVELOPE: NORMAL STRUCTURE AND COMPOSITION; LAMINOPATHIES; Laminopathies Caused by Mutations in LMNA; Striated muscle diseases; Lipodystrophy syndromes; Peripheral neuropathy; Progeroid syndromes; Laminopathies Caused by Mutations Affecting B-Type Lamins; Mutations in Genes Encoding Nuclear Membrane Proteins; Inner nuclear membrane; Perinuclear space; Outer nuclear membrane

Mutations in Genes Encoding Nuclear Pore Complex ProteinsCONCLUSION; REFERENCES; Chapter 2 Inflammasomopathies: Diseases Linked to the NLRP3 Inflammasome Dominic De Nardo, Johanna Vogelhuber, Larisa Labzin, Pia Langhoff and Eicke Latz; INTRODUCTION AND OVERVIEW; THE NLRP3 INFLAMMASOME: A PLATFORM FOR MATURATION OF IL-1 βFAMILY CYTOKINES; NOD-Like Receptors (NLRs); Inflammasome-Forming Proteins; Focus on the NLRP3 Inflammasome; INFLAMMASOMOPATHIES: THE NLRP3 INFLAMMASOME AND DISEASE; Genetic NLRP3 Inflammasome Disorders; Cryopyrin-associated periodic syndromes (CAPS)

Clinical manifestation of CAPS diseasesFamilial cold autoinflammatory syndrome (FCAS); Muckle-Wells syndrome (MWS); Neonatal onset multisystem inflammatory disease (NOMID); Genetics of CAPS; Mechanism of inflammasome activation in CAPS; The NLRP3 Inflammasome and Environmental Diseases; Silicosis and asbestosis; Nanoparticles; The NLRP3 Inflammasome in Infectious Diseases; Influenza A virus; Malaria; The NLRP3 Inflammasome in Metabolic Diseases; Gout and pseudogout; Alzheimer's disease; Atherosclerosis; Obesity and early type 2 diabetes (T2D); Type 2 diabetes progression

CURRENT THERAPEUTIC STRATEGIES TARGETING INFLAMMASOMOPATHIESCONCLUDING REMARKS; REFERENCES; Chapter 3 Amyloidosis Morie A. Gertz; INTRODUCTION; PATHOGENESIS; AMYLOID ORGAN INVOLVEMENT; DIAGNOSIS; SCREENING FOR AMYLOIDOSIS; CONFIRMING THE DIAGNOSIS; IMAGING OF AMYLOIDOSIS; CLINICAL CLASSIFICATIONS OF AMYLOIDOSIS; Immunoglobulin Light Chain Amyloidosis (AL); Secondary Systemic Amyloidosis (AA); Familial Amyloidosis; Transthyretin; Nontransthyretin Forms of Familial Amyloidosis; Native Transthyretin Amyloidosis (Senile Cardiac Amyloidosis); Localized Amyloidosis

Amyloidosis of the Renal Pelvis, Ureter, Bladder, and UrethraTracheobronchial Tree and Laryngeal Amyloid; SKIN; THERAPY; Treatment Overview; Alkylator-based Therapy; Stem Cell Transplantation; Novel-Agent-Containing Regimens; Thalidomide; Lenalidomide; Bortezomib; Pomalidomide; THERAPY OF SECONDARY AMYLOIDOSIS; TRANSPLANTATION FOR FAMILIAL AMYLOIDOSIS; AGENTS THAT DESTABILIZE THE AMYLOID PROTEIN STRUCTURE; Chemical Agents Disrupting the Serum Amyloid P Component; Monoclonal Antibody Treatment of Amyloidosis; CONCLUSION; REFERENCES

Chapter 4 Adiposopathy Harold E. Bays and J. Michael Gonzalez-Campoy

Notes:

Description based upon print version of record.

Includes bibliographical references and index.

ISBN:

9786613906144

9781283593694

1283593696

9789814355698

9814355690

OCLC:

809910880