LEADER 05259nam 2200661Ia 450 001 9910819000203321 005 20230802012901.0 010 $a1-283-59369-6 010 $a9786613906144 010 $a981-4355-69-0 035 $a(CKB)2560000000093364 035 $a(EBL)1019621 035 $a(OCoLC)809910880 035 $a(SSID)ssj0000703141 035 $a(PQKBManifestationID)12313021 035 $a(PQKBTitleCode)TC0000703141 035 $a(PQKBWorkID)10703699 035 $a(PQKB)10132851 035 $a(MiAaPQ)EBC1019621 035 $a(WSP)00002760 035 $a(Au-PeEL)EBL1019621 035 $a(CaPaEBR)ebr10596903 035 $a(CaONFJC)MIL390614 035 $a(EXLCZ)992560000000093364 100 $a20120224d2012 uy 0 101 0 $aeng 135 $aur|n|---||||| 181 $ctxt 182 $cc 183 $acr 200 00$aNew-opathies$b[electronic resource] $ean emerging molecular reclassification of human disease /$f[edited by] Errol C. Friedberg ... [et al.] 210 $aNew Jersey $cWorld Scientific$dc2012 215 $a1 online resource (310 p.) 300 $aDescription based upon print version of record. 311 $a981-4355-68-2 320 $aIncludes bibliographical references and index. 327 $aContents; 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 327 $aMutations 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 ?FAMILY 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) 327 $aClinical 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 327 $aCURRENT 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 327 $aAmyloidosis 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 327 $aChapter 4 Adiposopathy Harold E. Bays and J. Michael Gonzalez-Campoy 330 $aThis 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 606 $aDiseases 606 $aMedical genetics 606 $aNosology 615 0$aDiseases. 615 0$aMedical genetics. 615 0$aNosology. 676 $a616.001/2 701 $aFriedberg$b Errol C$0515128 801 0$bMiAaPQ 801 1$bMiAaPQ 801 2$bMiAaPQ 906 $aBOOK 912 $a9910819000203321 996 $aNew-opathies$94016720 997 $aUNINA