Prospect in Pediatric Diseases Medicine PDF
Preview Prospect in Pediatric Diseases Medicine
Advances in Experimental Medicine and Biology 912 Neuroscience and Respiration Mieczyslaw Pokorski Editor Prospect in Pediatric Diseases Medicine Advances in Experimental Medicine and Biology Neuroscience and Respiration Volume 912 Editorial Board Irun R. Cohen, The Weizmann Institute of Science, Rehovot, Israel N.S.AbelLajtha,KlineInstituteforPsychiatricResearch,Orangeburg,NY,USA John D. Lambris, University of Pennsylvania, Philadelphia, PA, USA Rodolfo Paoletti, University of Milan, Milan, Italy Subseries Editor Mieczyslaw Pokorski More information about this series at http://www.springer.com/series/13457 Mieczyslaw Pokorski Editor Prospect in Pediatric Diseases Medicine Editor MieczyslawPokorski PublicHigherMedicalProfessionalSchoolinOpole InstituteofNursing Opole,Poland ISSN0065-2598 ISSN2214-8019 (electronic) AdvancesinExperimentalMedicineandBiology ISBN978-3-319-35103-2 ISBN978-3-319-35104-9 (eBook) DOI10.1007/978-3-319-35104-9 LibraryofCongressControlNumber:2016944222 #SpringerInternationalPublishingSwitzerland2016 Thisworkissubjecttocopyright.AllrightsarereservedbythePublisher,whetherthewholeor part of the material is concerned, specifically the rights of translation, reprinting, reuse of illustrations,recitation,broadcasting,reproductiononmicrofilmsorinanyotherphysicalway, andtransmissionorinformationstorageandretrieval,electronicadaptation,computersoftware, orbysimilarordissimilarmethodologynowknownorhereafterdeveloped. Theuseofgeneraldescriptivenames,registerednames,trademarks,servicemarks,etc.inthis publicationdoesnotimply,evenintheabsenceofaspecificstatement,thatsuchnamesare exemptfromtherelevantprotectivelawsandregulationsandthereforefreeforgeneraluse. Thepublisher,theauthorsandtheeditorsaresafetoassumethattheadviceandinformationin thisbookarebelievedtobetrueandaccurateatthedateofpublication.Neitherthepublishernor the authors or the editors give a warranty, express or implied, with respect to the material containedhereinorforanyerrorsoromissionsthatmayhavebeenmade. Printedonacid-freepaper ThisSpringerimprintispublishedbySpringerNature TheregisteredcompanyisSpringerInternationalPublishingAGSwitzerland Preface The book series Neuroscience and Respiration presents contributions by expert researchers and clinicians in the field of pulmonary disorders. The chapters provide timely overviews of contentious issues or recent advances in the diagnosis, classification, and treatment of the entire range of pulmo- narydisorders,bothacuteandchronic.Thetextsarethoughtasamergerof basic and clinical research dealing with respiratory medicine, neural and chemical regulation of respiration, and the interactive relationship between respiration and other neurobiological systems such as cardiovascular func- tionorthemind-to-bodyconnection.Theauthorsfocusontheleading-edge therapeutic concepts, methodologies, and innovative treatments. Pharmaco- therapy is always in the focus of respiratory research. The action and pharmacology of existing drugs and the development and evaluation of new agents are the heady area of research. Practical, data-driven options to manage patients will be considered. New research is presented regarding older drugs, performed from a modern perspective or from a different pharmacotherapeutic angle. The introduction of new drugs and treatment approachesinbothadultsandchildrenalsoisdiscussed. Lung ventilation is ultimately driven by the brain. However, neuropsy- chologicalaspectsofrespiratorydisordersarestillmostlyamatterofconjec- ture. After decades of misunderstanding and neglect, emotions have been rediscovered as a powerful modifier or even the probable cause of various somatic disorders. Today, the link between stress and respiratory health is undeniable. Scientists accept a powerful psychological connection that can directlyaffectourqualityoflifeandhealthspan.Psychologicalapproaches, bydecreasingstress,canplayamajorroleinthedevelopmentandtherapyof respiratorydiseases. Neuromolecular aspects relating to gene polymorphism and epigenesis, involvingbothheritablechangesinthenucleotidesequenceandfunctionally relevantchangestothegenomethatdonotinvolveachangeinthenucleotide sequence, leading to respiratory disorders will also be tackled. Clinical advancesstemmingfrommolecularandbiochemicalresearcharebutpossi- ble if the research findings are translated into diagnostic tools, therapeutic procedures,andeducation,effectivelyreachingphysiciansandpatients.All thatcannotbeachievedwithoutamultidisciplinary,collaborative,bench-to- bedsideapproachinvolvingbothresearchersandclinicians. v vi Preface Thesocietalandeconomicburdenofrespiratoryailmentshasbeenonthe rise worldwide leading to disabilities and shortening of life span. COPD alone causes more than three million deaths globally each year. Concerted efforts are required to improve this situation, and part of those efforts are gaining insights into the underlying mechanisms of disease and staying abreast with the latest developments in diagnosis and treatment regimens. Itishopedthatthebookspublishedinthisserieswillassumealeadingrolein the field of respiratory medicine and research and will become a source of referenceandinspirationforfutureresearchideas. I would like to express my deep gratitude to Mr. Martijn Roelandse and Ms. Tanja Koppejan from Springer’s Life Sciences Department for their genuineinterestinmakingthisscientificendeavorcomethroughandinthe expertmanagementoftheproductionofthisnovelbookseries. Opole,Poland MieczyslawPokorski Contents ApplicationofArrayComparativeGenomicHybridization inNewbornswithMultipleCongenitalAnomalies. . . . . . . . . . . . . 1 KrzysztofSzczałuba,BeataNowakowska,KatarzynaSobecka, MartaSmyk,JenniferCastaneda,JakubKlapecki, AnnaKutkowska-Kaz´mierczak,RobertS´migiel,EwaBocian, MarekRadkowski,andUrszulaDemkow CytogenomicEvaluationofChildrenwithCongenital Anomalies:CriticalImplicationsforDiagnosticTesting andGeneticCounseling. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 11 KrzysztofSzczałuba,AnnaJakubiuk-Tomaszuk,MartaKe˛dzior, JoannaBernaciak,JolantaZdrodowska,WiesławKurza˛tkowski, MarekRadkowski,andUrszulaDemkow ImpairmentofImmuneFunctioninChildrenwithFamilial HemophagocyticLymphohistiocytosis. . . . .. . . . .. . . . .. . . . .. . . 21 K.Popko,J.Jasin´ska,E.Go´rska,U.Demkow,W.Balwierz, L.Maciejka-Kembłowska,W.Badowska,J.Wachowiak, K.Drabko,andI.Malinowska ThyroidFunctioninObeseChildrenandAdolescents andItsAssociationwithAnthropometricandMetabolic Parameters. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 33 MałgorzataRumin´ska,EwelinaWitkowska-Se˛dek, AnnaMajcher,andBeataPyrz˙ak RelationshipBetween25(OH)DandIGF-IinChildren andAdolescentswithGrowthHormoneDeficiency. . . . . . . . . . . . 43 E.Witkowska-Se˛dek,A.Kucharska,M.Rumin´ska,andB.Pyrz˙ak ViralInfectionsinChildreninthe2014/2015EpidemicSeason inPoland. . . . . . .. . . . . . . .. . . . . . . . .. . . . . . . .. . . . . . . .. . . . . 51 E.Hallmann-Szelin´ska,K.Bednarska,K.Kondratiuk, D.Rabczenko,andL.B.Brydak vii viii Contents GastroesophagealRefluxDiseaseinChildrenwithInterstitial LungDisease. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 57 M.A.Dziekiewicz,K.Karolewska-Bochenek,Ł.Dembin´ski, A.Gawronska,K.Krenke,J.Lange,M.Banasiuk,E.Kuchar, M.Kulus,P.Albrecht,andA.Banaszkiewicz TreatmentOutcomesinChildrenwithHenoch-Scho¨nlein Nephritis. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 65 MałgorzataMizerska-Wasiak,JadwigaMałdyk,UrszulaDemkow, MariaRoszkowska-Blaim,andMałgorzataPan´czyk-Tomaszewska RespiratoryFunctionandLanguageAbilitiesofProfoundly DeafAdolescentswithandwithoutCochlearImplants. . . . . . . . . . 73 A.Z˙ebrowska,A.Zwierzchowska,B.Manowska,K.Przybyła, A.Kruz˙yn´ska,andD.Jastrze˛bski High-FrequencyJetVentilationagainstSmall-Volume ConventionalMechanicalVentilationintheRabbitModels ofNeonatalAcuteLungInjury. . . . . . . . . . . . . . . . . . . . . . . . . . . . 83 D.Mokra,L.TomcikovaMikusiakova,P.Mikolka,P.Kosutova, M.Jurcek,M.Kolomaznik,andA.Calkovska Index. . . . . . . . . . . . . . . . . . . . . . . . . . . .. . . . . . . . . . . . . . . . . . . . 95 AdvsExp.Medicine,Biology-NeuroscienceandRespiration(2016)23:1–9 DOI10.1007/5584_2016_235 #SpringerInternationalPublishingSwitzerland2016 Publishedonline:25February2016 Application of Array Comparative Genomic Hybridization in Newborns with Multiple Congenital Anomalies Krzysztof Szczałuba, Beata Nowakowska, Katarzyna Sobecka, Marta Smyk, Jennifer Castaneda, Jakub Klapecki, Anna Kutkowska-Kaz´mierczak, Robert S´migiel, Ewa Bocian, Marek Radkowski, and Urszula Demkow Abstract Major congenital anomalies are detectable in 2–3 % of the newborn population.Someoftheirgeneticcausesareattributabletocopynumber variationsidentifiedbyarraycomparativegenomichybridization(aCGH). ThevalueofaCGHscreeningasafirst-tiertestinchildrenwithmultiple congenitalanomalieshasbeenstudiedandconsensusadopted.However, arrayresolutionhasnotbeenagreedupon,specificallyinthenewbornor infant population. Moreover, most array studies have been focused on mixed populations of intellectual disability/developmental delay with or without multiple congenital anomalies, making it difficult to assess the valueofmicroarraysinnewborns.Theaimofthestudywastodetermine the optimal quality and clinical sensitivity of high-resolution array com- parative genomic hybridization in neonates with multiple congenital anomalies. We investigated a group of 54 newborns with multiple con- genitalanomaliesdefinedastwoormorebirthdefectsfrommorethanone organ system. Cytogenetic studies were performed using OGT CytoSure 8(cid:1)60Kmicroarray.Wefoundtenrearrangementsintennewborns.Of these, one recurrent syndromic microduplication was observed, whereas all other changes were unique. Six rearrangements were definitely K.Szczałuba(*),B.Nowakowska,K.Sobecka M.Smyk,J.Castaneda,J.Klapecki,A.Kutkowska- Kaz´mierczak,andE.Bocian DepartmentofMedicalGenetics,InstituteofMotherand M.Radkowski Child,17aKasprzakaSt.,01-211Warsaw,Poland DepartmentofImmunopathologyofInfectiousand e-mail:[email protected] ParasiticDiseases,WarsawMedicalUniversity,Warsaw, R.S´migiel Poland DepartmentofGenetics,WroclawMedicalUniversity, U.Demkow Wroclaw,Poland DepartmentofLaboratoryDiagnosticsandClinical DepartmentofSocialPediatrics,WroclawMedical ImmunologyofDevelopmentalAge,WarsawMedical University,Wroclaw,Poland University,Warsaw,Poland 1
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