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Francis X. McCormack | Akateeminen Kirjakauppa

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Molecular Basis of Pulmonary Disease - Insights from Rare Lung Disorders
Francis X. McCormack; Ralph J. Panos; Bruce C. Trapnell
Humana Press Inc. (2010)
Kovakantinen kirja
190,00
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Molecular Basis of Pulmonary Disease : Insights from Rare Lung Disorders
Francis X. McCormack (ed.); Ralph J. Panos (ed.); Bruce C. Trapnell (ed.)
Humana (2016)
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190,00
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Rare and Orphan Lung Diseases, An Issue of Clinics in Chest Medicine
Robert Kotloff; Francis X. McCormack
Elsevier - Health Sciences Division (2016)
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103,30
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Diffuse Cystic Lung Diseases
Nishant Gupta; Kathryn A. Wikenheiser-Brokamp; Francis X. McCormack
Springer Nature Switzerland AG (2021)
Kovakantinen kirja
190,00
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Diffuse Cystic Lung Diseases
Nishant Gupta; Kathryn A. Wikenheiser-Brokamp; Francis X. McCormack
Springer Nature Switzerland AG (2022)
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134,20
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Orphan Lung Diseases : A Clinical Guide to Rare Lung Disease
Vincent Cottin (ed.); Luca Richeldi (ed.); Kevin Brown (ed.); Francis X. McCormack (ed.)
Springer (2023)
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190,00
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Orphan Lung Diseases : A Clinical Guide to Rare Lung Disease
Vincent Cottin (ed.); Luca Richeldi (ed.); Kevin Brown (ed.); Francis X. McCormack (ed.)
Springer (2024)
Pehmeäkantinen kirja
134,20
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Molecular Basis of Pulmonary Disease - Insights from Rare Lung Disorders
190,00 €
Humana Press Inc.
Sivumäärä: 438 sivua
Asu: Kovakantinen kirja
Painos: 2010
Julkaisuvuosi: 2010, 19.03.2010 (lisätietoa)
Kieli: Englanti
Tuotesarja: Respiratory Medicine
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-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-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 AndreM. 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 AndreM.
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.

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