McCormack / Panos / Trapnell | Molecular Basis of Pulmonary Disease | Buch | sack.de

McCormack / Panos / Trapnell Molecular Basis of Pulmonary Disease



Insights from Rare Lung Disorders

1. Auflage. 2010, 438 Seiten, Gebunden, Book, Format (B × H): 183 mm x 254 mm, Gewicht: 1139 g Reihe: Respiratory Medicine
ISBN: 978-1-58829-963-5
Verlag: Springer, Berlin


McCormack / Panos / Trapnell Molecular Basis of Pulmonary Disease

Dr. SharonRounds,theeditorforthisserieswhoinvitedustowriteabookonrare lungdiseases,developedtheideaafterattendingthe2004Lymphangioleiomyomatosis (LAM)Foundationannualresearchmeeting. Shewasakeynotespeakeratthatevent (duringhertenureasthepresidentoftheAmericanThoracicSociety)andwasw- nesstothepowerofpatientadvocacyandthemission-basedscienti ceffortthathad broughtthisrarediseaseofwomenfromobscuritytoclinicaltrialswithtargetedmol- ulartherapiesinunderadecade. Theprogressinpulmonaryalveolarproteinosis(PAP), pulmonaryalveolarmicrolithiasis(PAM),inheriteddisordersofsurfactantmetabolism, and pulmonary arterial hypertension, to name a few, has been no less astounding. Advanceshavecomefromthemostsurprisingdirections;fruit iesforLAM,gen- ically engineered mice made for other purposes for PAP, and groundbreaking hi- densitySNP(single-nucleotidepolymorphism)analysesdoneonahandfuloffamilies forPAM. Inmanycases,insightsintobiologygainedfromrarediseaseshaveinformed researchapproachesandtreatmentstrategiesformorecommondiseases;forexample, knowledgegainedfromthestudyofPAPabouttheroleofGM-CSFinthelunghas sparkedinterestintheuseofantiGM-CSFapproachestocontrolbothpulmonaryand extrapulmonaryin ammationinavarietyofdiseases. The ndingthatinterstitiallung diseasedevelopsinfamilieswithcytotoxicmutationsinsurfactantproteinC(SP-C), agenewhichisexpressedonlyinalveolartypecells,hasunderscoredtheimportance oftheintegrityofthealveolarepitheliuminthepathogenesisofparenchymal brosis. Opportunitiestoapproachlungdiseasepathogenesisfromthevantagepointofap- marymoleculardefectaregiftsfromnaturethatareuniquelyabundantamongtherare lungdisorders. WesalutetheNIHandtheNationalCenterforResearchResourcesfortheirvisionin facilitatingthetranslationofbasicresearchadvancesinrarelungdiseasesintoclinical realitythroughtheRareLungDiseaseConsortium,anetworkof13USandinter- tionalsitesthatiscurrentlyconductingclinicaltrialsandstudiesinLAM,alphaone antitrypsin de ciency, pediatric interstitial lung disease, and PAP. It has been a rare privilegetoworkonsuchfascinatingdiseaseswithsuchcapableinvestigatorsfromall overtheworldoverthepast6years. v vi Preface Theformatforthisvolumeisunique. Mostchaptershavebeenauthoredbyacli- cianandabasicscientistwhoareexpertinthediseasetopicandunderlyingmolecular defect,respectively. Theirchargewastofocusonthegeneticbasisandmolecularpat- genesisofdisease,animalmodels,clinicalfeatures,diagnosticapproach,conventional managementandtreatment,andfuturetherapeutictargetsanddirections. Theintentwas nottoprovideabroadoverview,butrathertoshedlightonthemolecularmechanisms thatevoketheclinicalpresentationandengendertreatmentstrategiesforeachdisease. Wehopethatthisapproachwillproveusefulforpulmonarycliniciansandscientists alike. Wethankourwives,Holly,Jean,andVicky,fortheirsupportandindulgencewith latenightemailsandwork- lledweekends,Dr. Roundsfortheinvitationtowritethe book,andalloftheauthorswhocontributed. FrancisMcCormack,MD RalphPanos,MD BruceTrapnell,MD Contents Preface. v Contributors. ix 1 AClinicalApproachtoRareLungDiseases. 1 RalphJ. Panos 2 ClinicalTrialsforRareLungDiseases. 31 JeffreyKrischer 3 IdiopathicandFamilialPulmonaryArterialHypertension. 39 JeanM. Elwing,GailH. Deutsch,WilliamC. Nichols, andTimothyD. LeCras 4 Lymphangioleiomyomatosis. 85 ElizabethP. HenskeandFrancisX. McCormack 5 AutoimmunePulmonaryAlveolarProteinosis. 111 BruceC. Trapnell,KohNakata,andYoshikazuInoue 6 MutationsinSurfactantProteinCandInterstitialLungDisease. 133 RalphJ. PanosandJamesP. Bridges 7 HereditaryHaemorrhagicTelangiectasia. 167 ClaireShovlinandS. PaulOh 8 Hermansky–PudlakSyndrome. 189 LisaR. YoungandWilliamA. Gahl 9 Alpha-1AntitrypsinDe ciency. 209 CharlieStrangeandSabinaJanciauskiene vii viii Contents 10 TheMarfanSyndrome. 225 AmareshNathandEnidR. Neptune 11 SurfactantDe ciencyDisorders:SP-BandABCA3. 247 LawrenceM. Nogee 12 PulmonaryCapillaryHemangiomatosis. 267 EdwardD. Chan,KathrynChmura,andAndrewSullivan 13 Anti-glomerularBasementDisease:Goodpasture’sSyndrome. 275 GangadharTaduri,RaghuKalluri,andRalphJ. Panos 14 PrimaryCiliaryDyskinesia. 293 MichaelR. Knowles,HildaMetjian,MargaretW. Leigh, andMaimoonaA. Zariwala 15 PulmonaryAlveolarMicrolithiasis. 325 KoichiHagiwara,TakeshiJohkoh,andTeruoTachibana 16 CysticFibrosis. 339 AndréM. Cantin 17 PulmonaryLangerhans’CellHistiocytosis–Advances intheUnderstandingofaTrueDendriticCellLungDisease. 369 RobertVassallo 18 Sarcoidosis. 389 RalphJ. PanosandAndrewP. Fontenot 19 SclerodermaLungDisease. 409 BrentW. Kinder SubjectIndex. 421 Contributors JamesP. Bridges,PhD, DepartmentofNeonatologyinPulmonaryBiology,Children’s HospitalMedicalCenter,Cincinnati,OH AndréM. Cantin,MD, Department of Medicine, University of Sherbrooke, Sherbrooke,QC,Canada EdwardD. Chan,MD, DepartmentofInternalMedicine,NationalJewishMedicaland ResearchCenter,Denver,CO KathrynChmura,BA, Department of Medicine, University of Colorado School of Medicine,Denver,CO GailH.

Zielgruppe


Professional/practitioner

Weitere Infos & Material


Chapter 1. A Clinical Approach to Rare Lung DiseasesRalph Panos, M.D.Chapter 2. Clinical Trials for Rare Lung DiseasesJeffrey Krischer, Ph.D.Chapter 3. Idiopathic and Familial Pulmonary Arterial HypertensionJean M. Elwing, M.D., Gail Deutsch, M.D., William C. Nichols, Ph.D., and Timothy LeCras, Ph.D.,Chapter 4. LymphangioleiomyomatosisFrancis X. McCormack, M.D, and Elizabeth P. Henske, M.D., Ph.D.Chapter 5. Autoimmune Pulmonary Alveolar ProteinosisBruce Trapnell, M.D., Koh Nakata, M.D., Ph.D., and Yoshikazu Inoue, M.D., Ph.D.Chapter 6. Mutations in Surfactant Protein C and Interstitial Lung DiseaseJames P. Bridges, Ph. D. and Ralph Panos, M.D.Chapter 7. Hereditary Hemorrhagic TelangiectasiaClaire Shovlin, M.D and S. Paul Oh, Ph.D.Chapter 8. Hermansky Pudlak SyndromeLisa Young, M.D. and Bill Gahl, M.D., Ph.D.Chapter 9. Alpha One Antitrypsin DeficiencyCharlie Strange, M.D. and Sabrina Janciauskiene, Ph.D.Chapter 10. The Marfan SyndromeAmaresh Nath, M.D and Enid Neptune, M.D.Chapter 11. Surfactant Deficiency Disorders SP-B and ABCA3Larry Nogee, M.D.Chapter 12. Pulmonary Capillary HemangiomatosisEdward D. Chan, M.D., Kathryn Chmura, B.A, and Andrew Sullivan, M.D.Chapter 13. Goodpasture's SyndromeGangadar Taduri, M.D., D.M., Raghu Kalluri, Ph.D., and Ralph P. Panos, M.D.Chapter 14. Primary Ciliary DiskinesiaMichael R. Knowles, M.D., Hilda Morillas, M.D., Margaret W. Leigh, M.D., Maimoona Zariwala, Ph.D.Chapter 15. Pulmonary Alveolar MicrolithiasisKoichi Hagiwara, MD, Takeshi Jokoh, M.D., Teruo Tachibana, MDChapter 16. Cystic FibrosisAndre Cantin, M.D.Chapter 17. Pulmonary Langerhan's CellHistiocytosisRobert Vassallo, M.D.Chapter 18. SarcoidosisRalph Panos, M.D. and Andrew Fontenot, M.D.Chapter 19. Scleroderma Lung DiseaseBrent Kinder, M.D.



WIR VERWENDEN COOKIES

Einige Cookies sind notwendig für den Betrieb der Seite, während andere uns helfen, Ihnen ein optimales Erlebnis unserer Webseite zu ermöglichen.