Дисертації з теми "Congenital heart diseases (CHD)"
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Grech, Victor. "Congenital heart disease in Malta." Thesis, University College London (University of London), 1998. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.286359.
Повний текст джерелаLipscomb, Sund Kristen. "Adults with Congenital Heart Disease: A Genetic Perspective." University of Cincinnati / OhioLINK, 2009. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1252702239.
Повний текст джерелаGranbom, Elin. "Respiratory tract infections in children with congenital heart disease." Licentiate thesis, Umeå universitet, Pediatrik, 2016. http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-128024.
Повний текст джерелаRespiratoriskt syncytialvirus (RSV) är det vanligaste förkylningsviruset och de allra flesta barn drabbas före två års ålder. RSV kan leda till allvarlig luftvägsinfektion hos alla barn, men speciellt hos dem med medfött hjärtfel. Någon botande läkemedelsbehandling finns inte för RSV, utan de medicinska insatserna får inriktas mot att mildra sjukdomsförloppet och för svårt sjuka barn krävs sjukhusvård för att exempelvis erhålla syrgasbehandling. Det finns inget vaccin mot RSV, men barn som riskerar att bli svårt sjuka kan behandlas profylaktiskt med en monoklonal antikropp (Palivizumab) som ges som injektion en gång per månad under vintersäsong. Vissa barn med svårt hjärtfel får denna profylaktiska behandling enligt nationella riktlinjer. Vår första studie visade att ungefär hälften av barnen med medfött hjärtfel, aktuella för profylax mot RSV, fick behandlingen senare än vad de nationella riktlinjerna rekommenderade. Denna studie genomfördes via en enkät till alla landets barnkliniker under två vintersäsonger. Vi såg även att något fler barn än förväntat (4.6%) fick RSV-infektion trots profylaktisk behandling och för cirka en tredjedel av dessa barn fördröjdes tiden till hjärtoperation. Behovet av sjukhusvård kan användas som mått på hur svårt ett sjukdomsförlopp är, och baserat på Socialstyrelsens slutenvårdsregister studerade vi alla barn under två års ålder och fann att den relativa risken för sjukhusvård på grund av RSV var högre för barn med hjärtfel än för barn utan hjärtfel (RR=2.06 95% CI 1.6-2.6; p < 0.0001). I vår andra studie, baserad på slutenvårdsregistret, beräknade vi den relativa risken för sjukhusvård på grund av RSV, för barn med olika former av hjärtfel och uppdelat i sommar- och vintersäsong. Risken för sjukhusvård var ökad för alla barn oavsett typ av hjärtfel, och detta gällde såväl under vintern som under sommaren. Barn med de allvarligaste formerna av hjärtfel hade högre risk för sjukhusvård under sommaren jämfört med deras risk under vintern, medan barn med vad som anses vara lättare hjärtfel hade ökad risk för sjukhusvård under hela året, utan någon större skillnad i risk mellan vinter och sommar. Att barn med hjärtfel riskerar att bli svårt sjuka i RSV är väl känt, men våra resultat visar att denna risk även existerar under sommarhalvåret, då det inte är RSV-säsong och då profylax inte ges. Vi fann också att barn med vad som anses vara lättare hjärtfel löper lika stor risk att drabbas av svårare sjukdomsförlopp med sjukhusvård under vintern, som barn med svårare hjärtfel. Att denna information sprids till såväl sjukvårdspersonal som arbetar med denna patientgrupp som till föräldrar med hjärtsjuka barn är viktigt, för att belysa att även dessa barn behöver skyddas, och detta inte bara under vintern och RSV-säsongen.
Erdenebileg, Ariuntsatsral Ariunaa. "Is Maternal Headache a Risk Factor for Congenital Heart Disease?" Digital Archive @ GSU, 2009. http://digitalarchive.gsu.edu/iph_theses/70.
Повний текст джерелаGarris, Theresa. "Investigation of Self-reported Transitional Health Care Needs of the Adolescent with Congenital Heart Disease." University of Toledo Health Science Campus / OhioLINK, 2006. http://rave.ohiolink.edu/etdc/view?acc_num=mco1164036105.
Повний текст джерелаSchiele, Steven E. "The Influence of Disease Knowledge and Illness Uncertainty on Psychological Distress and Quality of Life in Patients with Congenital Heart Disease." The Ohio State University, 2017. http://rave.ohiolink.edu/etdc/view?acc_num=osu1492787611693681.
Повний текст джерелаOlsson, Annie, and Nathalie Hurtig. "Unga vuxnas upplevelser av att leva med medfött hjärtfel." Thesis, Högskolan Väst, Avdelningen för omvårdnad - grundnivå, 2016. http://urn.kb.se/resolve?urn=urn:nbn:se:hv:diva-9500.
Повний текст джерелаCohen, Sarah. "Apport et utilisation des bases de données médico-administratives dans l’étude des problématiques émergentes chez les patients adultes atteints de cardiopathie congénitale Administrative health databases for addressing emerging issues in adults with CHD: a systematic review Accuracy of claim data in the identification and classification of adults with congenital heart diseases in electronic medical records Exposure to low-dose ionizing radiation from cardiac procedures and malignancy risk in adults with congenital heart disease." Thesis, Sorbonne Paris Cité, 2018. http://www.theses.fr/2018USPCB228.
Повний текст джерелаCongenital heart diseases (CHD) are the most common types of birth defects and affect approximately 1% of births. Ninety percent of children born with CHD reach now adulthood thanks to improvements of pediatric cardiology and cardiac surgery. These "survivors" are not definitively cured. They are prone to cardiac or extra cardiac complications and specific issues that justify an increase in consumption of healthcare. The need for population-based studies worldwide has led to secondary analyses of administrative medical databases (AMD). The objective of this thesis was to study the conditions of use of the AMD and their possible applications, specifically to understand the emerging issues of this new adult population with CHD (ACHD). The first part of this work was to systematically describe all the studies that had used AMD to specifically explore the issues of ACHD patients. This review showed the value of these databases in the field of ACHD: the large numbers of patients allows studying relatively rare diseases and the availability of comprehensive data over long periods of follow-up enables to study cardiac and extra cardiac complications even when the occurrence is delayed. In France, claim databases use the International Classification of Diseases, 10th revision (ICD-10), the reliability of which is still largely unknown in this context. The second part of this work was therefore to study the performances of ICD-10 to identify and classify ACHD patients in the data warehouse of the Georges Pompidou European Hospital which has a dedicated specialized ACHD Unit. The third part of this thesis reported a concrete example of the use of AMD. Based on the Quebec Congenital Heart Disease Database derived from Quebec’s AMD, our goal was to evaluate the association between exposure to ionizing radiation from cardiac procedures and the risk of cancer in ACHD. Indeed, the improvement in the life expectancy of patients with CHD and the increasing use of cardiac imaging modalities using ionizing radiations may have a carcinogenic effect in the long term. Although not designed for research purposes, this thesis showed that AMD are a particularly relevant tool for generating new knowledge about ACHD patients through the comprehensiveness of information, the possibility of extracting large samples of patients with a longitudinal follow-up over long periods of observation. The exploitation of electronic medical records through text mining methods could then be used to develop and validate algorithms to identify CHD patients in AMD. In France, although efforts have been made to create an effective multi-center collaborative program, there is currently no significant epidemiological data for all ACHDs. Secondary analysis of existing resources, such as the National Health Data System, would establish the national ACHD cohort and analyze their care pathway in order to guide healthcare resources allocation
Saied, Hala. "Stress coping, social support and adjustment among families of chd children in Picu after heart surgery." Connect to text online, 2006. http://rave.ohiolink.edu/etdc/view?acc_num=case1152694720.
Повний текст джерелаDarwich, Rami. "Functional Analysis of KLF13 in the Heart." Thesis, Université d'Ottawa / University of Ottawa, 2016. http://hdl.handle.net/10393/34317.
Повний текст джерелаHui, Ling, and 許凌. "Dobutamine stress echocardiography for children with acquired and congenital cardiac diseases." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2003. http://hub.hku.hk/bib/B29914954.
Повний текст джерелаChow, Pak-cheong, and 周百昌. "Systematic review on efficacy of anticoagulation and antithrombotics in patients with congenital heart diseases." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2012. http://hub.hku.hk/bib/B50222636.
Повний текст джерелаpublished_or_final_version
Community Medicine
Master
Master of Public Health
Lai, Tik-man Clare, and 賴迪雯. "Circulating biomarkers and right ventricular function in adolescents and young adults with congenital heart disease." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2014. http://hdl.handle.net/10722/197541.
Повний текст джерелаpublished_or_final_version
Paediatrics and Adolescent Medicine
Doctoral
Doctor of Philosophy
Čibiras, Sigitas Vladas. "Methods of interventional pediatric cardiology in treatment of congenital heart diseases: immediate and long-term results." Doctoral thesis, Lithuanian Academic Libraries Network (LABT), 2010. http://vddb.laba.lt/obj/LT-eLABa-0001:E.02~2010~D_20100204_100248-32962.
Повний текст джерелаDisertacijos objektas yra nustatyti intervencinės pediatrinės kardiologijos galimybes ir ypatumus, gydant įgimtas širdies ydas (ĮŠY), įvertinti gydomųjų perkateterinių procedūrų efektingumą, remiantis ankstyvųjų ir vėlyvųjų rezultatų analize. Tai retrospektyvus tyrimas. Analizuoti 422 ligonių duomenys, kuriems 1971 - 2007 m. buvo atliekamos 467 įgimtų širdies ydų paliatyvinės - gydomosios procedūros. Nustatyta, kad po balioninės tarpprieširdinės pertvaros septostomijos, statistiškai reikšmingai padidėja prieširdžių pertvaros defektas, didėja arterinio kraujo įsotinimas deguonimi ir mažėja spaudimų skirtumas (SS) tarp prieširdžių. Balioninė plaučių arterijos valvuloplastika (BPV) yra viena iš dažniausiai taikomų gydomųjų procedūrų, jos efektas – ryškus SS tarp dešiniojo skilvelio ir plaučių arterijos (PA) sumažėjimas, o pagrindinė komplikacija – PA vožtuvo nesandarumo vystymasis. BPV vėlyvieji rezultatai blogesni, kai yra didelis SS prieš procedūrą, o po procedūros liekamasis SS ≥ 36mmHg. Nustatyta, kad mažų iki 3mm AAL kimšimas Cook spiralėmis gali sėkmingai konkuruoti su operaciniu gydymu. Rasta, kad aortos, tuščiųjų venų ir plaučių arterijos šakų balioninės plastikos efektas trumpalaikis, o gydymas stentais daug sėkmingesnis. Nustatyta, kad anomalinių įgimtų ir pooperacinių kraujagyslinių jungčių užkimšimas spiralėmis yra saugus ir efektyvus gydymo metodas.
Yu, Kan. "Analysing small-sample-sized methylation data to identify biomarkers for congenital heart defects." Thesis, Edith Cowan University, Research Online, Perth, Western Australia, 2021. https://ro.ecu.edu.au/theses/2454.
Повний текст джерела梁平 and Ping Maurice Leung. "The role of cross-sectional and pulsed Doppler echocardiography in themanagement of patients with congenital heart disease: a changing practice." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 1991. http://hub.hku.hk/bib/B30408908.
Повний текст джерелаSilva, Viviane Martins da. "Characterization of nursing diagnoses in children with congenital heart disease: Study at a specialized hospital in diseases cardiopulmonary." Universidade Federal do CearÃ, 2007. http://www.teses.ufc.br/tde_busca/arquivo.php?codArquivo=1050.
Повний текст джерелаOs cuidados de enfermagem para crianÃas com cardiopatia congÃnita devem ser estabelecidos e executados tÃo logo se suspeite do diagnÃstico de defeito cardÃaco congÃnito, voltados sempre para a detecÃÃo precoce de sinais de descompensaÃÃo e manutenÃÃo de condiÃÃes Ãtimas para a cirurgia. Objetivou-se caracterizar o quadro de diagnÃsticos de enfermagem apresentados por crianÃas com cardiopatias congÃnitas. Estudo de natureza observacional, longitudinal desenvolvido nos meses de julho a novembro de 2004. A amostra foi composta por 45 crianÃas internadas em um hospital da rede pÃblica do municÃpio de Fortaleza-CearÃ. Para a coleta, foram utilizados entrevista e exame clÃnico de enfermagem. As crianÃas foram acompanhadas durante quinze dias de internamento desde a data de sua admissÃo. No perÃodo efetivaram-se seis avaliaÃÃes diagnÃsticas com intervalo de 48 horas. O processo de elaboraÃÃo e inferÃncia dos diagnÃsticos e problemas colaborativos seguiu as etapas de coleta, interpretaÃÃo / agrupamento das informaÃÃes e nomeaÃÃo de categorias. Foram encontrados 22 diagnÃsticos de enfermagem, 34 fatores relacionados e 13 problemas colaborativos diferentes nas 270 avaliaÃÃes realizadas. Observou-se associaÃÃo estatisticamente significante entre os diagnÃsticos Troca de gases prejudicada, PadrÃo respiratÃrio ineficaz, IntolerÃncia à atividade, Crescimento e desenvolvimento retardados e PerfusÃo tissular ineficaz. Estes diagnÃsticos apresentaram associaÃÃo com os fatores relacionados: DesequilÃbrio da ventilaÃÃo-perfusÃo, HiperventilaÃÃo, ReduÃÃo mecÃnica do fluxo sangÃÃneo, SecreÃÃes brÃnquicas e SecreÃÃes retidas. Os diagnÃsticos IntolerÃncia à atividade e Crescimento e desenvolvimento retardados mostraram associaÃÃo com o sexo feminino. Nos diagnÃsticos Troca de gases prejudicada, PadrÃo respiratÃrio ineficaz, IntolerÃncia à atividade, Crescimento e desenvolvimento retardados e DÃbito cardÃaco diminuÃdo, identificaram-se diferenÃas de mÃdia de sobrevida entre crianÃas atà 4 meses e acima de 4 meses. Os diagnÃsticos Troca de gases prejudicada, PadrÃo respiratÃrio ineficaz, IntolerÃncia à atividade e Risco para infecÃÃo ocorreram precocemente no perÃodo de internamento. Entre os diagnÃsticos, seis evidenciaram maiores oscilaÃÃes em suas trajetÃrias de ocorrÃncia no tempo: PadrÃo respiratÃrio ineficaz, IntolerÃncia à atividade, DesobstruÃÃo ineficaz das vias aÃreas, Hipertermia, PadrÃo de sono perturbado e Risco para intolerÃncia à atividade. Foram construÃdos cinco modelos paramÃtricos no domÃnio tempo, com vistas a predizer a ocorrÃncia desses diagnÃsticos de enfermagem. O ajustamento das equaÃÃes para os diagnÃsticos PadrÃo de sono perturbado e Hipertermia denotou grande dispersÃo entre os dados e a linha de tendÃncia, indicando que, alÃm do tempo, outras variÃveis determinam a proporÃÃo de crianÃas que manifestarÃo esses diagnÃsticos. Considera-se a importÃncia de se realizar pesquisas de caracterizaÃÃo do quadro de diagnÃsticos para determinaÃÃo das necessidades de assistÃncia de enfermagem à crianÃa cardiopata. O conhecimento da evoluÃÃo temporal das respostas do indivÃduo pode direcionar os cuidados de enfermagem para as reais necessidades do cliente, facilitando, assim, a escolha de intervenÃÃes mais adequadas
Jenneke, Cindy A. N. "The effect of dietary patterns on risk factors for CHD : a comparative study of students residing at the Adventist International Institute of Advanced Studies in the Philippines." Thesis, Link to online version, 2006. http://hdl.handle.net/10019/554.
Повний текст джерелаКондрачук, А. С., Н. В. Рокицкая, Е. Б. Ершова, Р. Таммо та Т. А. Ялынская. "Магнитно-резонансная томография в диагностике двойного отхождения магистральных сосудов от правого желудочка". Thesis, Издательство СумГУ, 2008. http://essuir.sumdu.edu.ua/handle/123456789/11490.
Повний текст джерелаКондрачук, А. С., Н. В. Рокицкая, Е. Б. Ершова, Р. Таммо та Т. А. Ялынская. "Корригированная транспозиция магистральных сосудов: возможности магнитно-резонансной томографии". Thesis, Издательство СумГУ, 2008. http://essuir.sumdu.edu.ua/handle/123456789/11494.
Повний текст джерелаКондрачук, А. С., Н. В. Рокицкая, Е. Б. Ершова, Р. Таммо та Т. А. Ялынская. "Случай редкого врожденного порока сердца – общего артериального ствола с перерывом дуги аорты". Thesis, Издательство СумГУ, 2008. http://essuir.sumdu.edu.ua/handle/123456789/11498.
Повний текст джерелаChen, Chao-Ying. "Cognitive, motor, and autonomic function in infants with complex congenital heart diseases, infants born preterm, and infants born full-term." The Ohio State University, 2014. http://rave.ohiolink.edu/etdc/view?acc_num=osu1408984094.
Повний текст джерелаHo, Xuan Tuan [Verfasser], and Pozza Robert [Akademischer Betreuer] Dalla. "Surgical and interventional treatments of congenital heart diseases in Da Nang Hospital, Vietnam / Xuan Tuan Ho ; Betreuer: Robert Dalla Pozza." München : Universitätsbibliothek der Ludwig-Maximilians-Universität, 2021. http://d-nb.info/1237221722/34.
Повний текст джерелаChong, Wan-yip, and 莊雲葉. "Aortic root dilation and stiffness in children after repair of Tetralogy of Fallot." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2004. http://hub.hku.hk/bib/B31971660.
Повний текст джерелаGharibeh, Lara. "Gata6 Haploinsufficiency Leads to Aortic Valve, Conduction System and Limbs Defects." Thesis, Université d'Ottawa / University of Ottawa, 2018. http://hdl.handle.net/10393/37584.
Повний текст джерелаZhian, Samaneh. "Molecular Genetic Analysis of CRELD1 in Patients with Heterotaxy Disorder." PDXScholar, 2011. https://pdxscholar.library.pdx.edu/open_access_etds/410.
Повний текст джерелаMurakami, Alexandre Noboru. "Impacto da parceria entre banco de dados internacional e centro único de cardiologia e cirurgia cardiovascular pediátrica de referência no Brasil." Faculdade de Medicina de São José do Rio Preto, 2018. http://hdl.handle.net/tede/418.
Повний текст джерелаMade available in DSpace on 2018-10-18T21:36:00Z (GMT). No. of bitstreams: 1 AlexandreMurakami_dissert.pdf: 1293818 bytes, checksum: d98c26e3e45ebf6e17599765f2d44e2d (MD5) Previous issue date: 2018-07-27
Developing countries have been dealing with several difficulties concerning congenital heart diseases. Among them is lack of control of results through some specific database. The participation in the International Quality Improvement Collaborative Database for Congenital Heart Disease (IQIC) - Improving care in low- and middle-income countries provides an opportunity to improve quality of care targeting morbidity and mortality reduction, facilitated by the establishment of parameters and objective data to evaluate treatment offered. Objective: To analyze factors in the International Quality Improvement Collaborative Database for Congenital Heart Disease (IQIC) database of a single center of cardiology and pediatric cardiovascular surgery that influenced the quality of care to patients with congenital heart disease. Casuistic and Methods: Data collection from January 2011 to December 2017 independently and with external audit by IQIC database partnership. Data included preoperative information such as demographic data, nutritional status, associated chromosomal abnormalities, Risk Adjustment for Congenital Heart Surgery (RACHS-1) score, as well as postoperative information such as infections, complications in the first 30 days or until hospital discharge and / or patient death. Results: In the preoperative period, there was a clear trend of increasing newborn patient cases, in detriment of those 1 to 18 years of age. There was a reduction in cases of malnutrition from 70% in 2013 to 55% in 2017. The postoperative period reveled significant variation between groups’ surgical procedures in RACHS-1 risk category (P= 0.003), prevalence of risk categories 2 and 3, as well as an increase in cases of risk categories 4,5 and 6, mainly in the last two years. Infection and mortality showed favorable results for reduction, with statistical significance for surgical site infection (P= 0.03), bacterial sepsis and other infections (both P <0.001). The 30-day postoperative follow-up showed a satisfactory evolution for discrete reduction in mortality, but not statistically significant difference in both in-hospital death (P=0.16) and 30 days (P=0.14). Conclusion: The analysis of the seven years of the IQIC database showed significant decrease in infection, increase in complexity of cases and reduction of mortality of patients with congenital heart disease in our environment.
Países em desenvolvimento enfrentam diversas dificuldades em relação às cardiopatias congênitas, dentre elas a falta de controle de resultados por meio de banco de dados específico. A participação no banco de dados International Quality Improvement Collaborative for Congenital Heart Disease (IQIC) - Improving care in low- and middle-income countries forneceu oportunidade de melhoria da qualidade na assistência para a redução de morbidade e mortalidade infantil, facilitada pelo estabelecimento de parâmetros e dados objetivos para avaliação de tratamentos oferecidos. Objetivo: Analisar os fatores do banco de dados International Quality Improvement Collaborative for Congenital Heart Disease (IQIC) – Improving care in low and middle income countries de um centro único de cardiologia e cirurgia cardiovascular pediátrica que influenciaram a qualidade de atendimento aos pacientes com cardiopatias congênitas. Casuística e Método: Coleta de dados no período de Janeiro de 2011 a Dezembro de 2017 de forma independente e com auditoria externa em parceria com banco de dados IQIC. Os dados incluíram informações pré-operatórias, tais como: dados demográficos, estado nutricional, síndromes associadas e categoria de risco cirúrgico (Risk Adjustment for Congenital Heart Surgery - RACHS-1), assim como, informações pós-operatórias como infecções, complicações nos primeiros 30 dias até a alta hospitalar e ou óbito do paciente. Resultados: No período pré-operatório, observou-se nítida tendência de aumento de casos de pacientes recém-nascidos em detrimento aos de 1 a 18 anos. Encontrou-se redução de casos com desnutrição de 70% em 2013 para 55% em 2017. No período pós-operatório os procedimentos cirúrgicos classificados na categoria de risco RACHS-1 revelaram variação significante entre os grupos (P=0,003), prevalecendo as categorias de grau 2 e 3, assim como, aumento de casos de categorias de risco 4,5 e 6, principalmente nos dois últimos anos do estudo. A infecção e mortalidade demonstraram resultados favoráveis para a redução, com significância estatística para infecção de sítio cirúrgico (P=0,03), sepse bacteriana e outras infecções (P<0,001). O acompanhamento de 30 dias de pós-operatório mostrou evolução satisfatória para discreta redução dos óbitos, porém sem diferença estatística tanto para morte intra-hospitalar (P=0,16) como em 30 dias (P=0,14). Conclusão: A análise dos sete anos do banco de dados IQIC permitiu demonstrar a diminuição significante de infecção, aumento da complexidade das doenças e redução da mortalidade dos pacientes com cardiopatias congênitas em nosso meio.
Milstone, Zachary J. "Histone Deacetylase 1 and 2 are Essential for Early Cardiac Development." eScholarship@UMMS, 2019. https://escholarship.umassmed.edu/gsbs_diss/1014.
Повний текст джерелаNagy, I. I. (Irina I. ). "Wnt-11 signaling roles during heart and kidney development." Doctoral thesis, Oulun yliopisto, 2014. http://urn.fi/urn:isbn:9789526204666.
Повний текст джерелаTiivistelmä Alkion sisäelinten kehityksen aikana esisolut lisääntyvät ja erilaistuvat muodostaen tarkoin määriteltyjä monisoluisia rakenteita. Muodostuvan kudosrakenteen määrittelyssä erilaiset solusignaalit ovat keskeisessä asemassa. Yksi näistä on nk. Wnt signaali perhe. Wnt perheeen jäsen Wnt-11 tehtävät on huonosti tunnettu. Wnt-11 viestittää ilmeisesti nk. planaaristen solupolariteettireittien (PCP) avulla, joka on beeta-kateniinista riippumattoman nk. ei-kanonisen Wnt signaali. Väitöskirjatyössä selvitettiin Wnt-11:n vaikutuksia sydämen ja munuaisten kehitykseen in vivo funktionaalisten genomisten menetelmien avulla. Ihmisen synnynnäiset kardiomyopatiat ovat sydänlihaksen ensisijaisia vaurioita, joiden taustalla on sydänlihaksen kehityshäiriö. Tutkimuksessa osoitetaan, että Wnt-11-geenillä on tärkeä merkitys hiiren sydänkammion kehitykselle, koska Wnt-11-geenin puute sydämen varhaisen kehityksen vaiheessa johtaa sydänlihassolujen järjestäytymisen ja kypsymisen häiriintymiseen, jolloin seurauksena on ensisijaisesta kardiomyopatiasta johtuva sikiökuolema. Wnt-11 koordinoi kahden solukiinnitysmolekyylin, N-kadheriinin ja β-kateniinin, samanaikasta ilmentymistä. Kyseiset molekyylit ovat keskeisen tärkeitä sydänlihasssolujen spatiaalisen järjestäytymisen kannalta. Tutkimuksessa osoitetaan, että Wnt-11-puutos aiheuttaa aikuisilla hiirillä ensisijaista sydänlihaksen liikakasvua ja trabekuloivaa kardiomyopatiaa, mikä vaikuttaa sydänlihaksen toimintaan. Tuloksilla voi olla merkitystä tutkittaessa ihmisen synnynnäisiä kardiomyopatioita. Wnt-signaaliperheen on osoitettu olevan yhteydessä munuaisputken kehitykseen ja sen sairauksiin, kuten munuaisten monirakkulatautiin. Väitöstutkimuksessa osoitetaan, että Wnt-11 ilmentyy kypsissä nefroneissa ja että se osallistuu nefrogeneesiin myöhempiin vaiheisiin, koska munuaisputken kehityksen säätely on poikkeavaa niissä munuaisissa, joista Wnt-11 puuttuu. Seurauksena on laajentunut, normaalia poimuttuneempi luumen. Munuaisputken poikkeavuuksilla oli yhteyttä munuaiskerästen mikrokystien muodostumiseen sekä munuaisten vajaatoimintaan. Wnt-11 -puute vähensi huomattavasti Wnt-9b-ilmentymistä, joka on PCP-välitteisen munuaisputken pidentymisen kannalta keskeisen tärkeä signaali. Kortikaalialueella Wnt9b:n vaimennussäätely liittyi poikkeavaan solujen lisääntymiseen, apoptoosiin ja kypsymiseen sekä vähentyneeseen nefroni- ja stroomakantasolujen merkkiaineen ilmentymiseen. Väitöskirjatutkimuksen tulokset viittaavat siihen, että Wnt-11 -toiminto on välttämätön sydänlihaksen normaalin muodostumisen ja kypsymisen sekä munuaisputken normaalin morfogeneesin kannalta sikiövaiheen ja syntymän jälkeisen kehityksen aikana. Wnt-11 -poistogeenisen hiiren fenotyypi riippuu geneettisestä tausta, samaan tapaan kuin ihmisen synnynnäisissä sairauksissa. Väitöstutkimuksesta saatavalla tiedolla voi olla merkitystä tutkittaessa ihmisen synnynnnäistä kardiomyopatiaa ja munuaisten monirakkulatautia
Lewandowski, Sara L. "Histone Deacetylase 3 Coordinates Heart Development Through Stage-Specific Roles in Cardiac Progenitor Cells." eScholarship@UMMS, 2012. http://escholarship.umassmed.edu/gsbs_diss/883.
Повний текст джерелаLewandowski, Sara L. "Histone Deacetylase 3 Coordinates Heart Development Through Stage-Specific Roles in Cardiac Progenitor Cells." eScholarship@UMMS, 2016. https://escholarship.umassmed.edu/gsbs_diss/883.
Повний текст джерелаBoschnakow, Anett. "Perioperative Antibiotikaprophylaxe bei angeborenen Herzfehlern." Doctoral thesis, [S.l.] : [s.n.], 2002. http://deposit.ddb.de/cgi-bin/dokserv?idn=964735059.
Повний текст джерелаRoux, Marine. "Etude du rôle des gènes HOX dans le développement du cœur chez la souris." Thesis, Aix-Marseille, 2013. http://www.theses.fr/2013AIXM5086.
Повний текст джерелаHox genes are known to be involved in the establishment of cell position and identity along the anterior-posterior axis in embryos and could act as key downstream effectors of retinoic acid during heart development. In situ hybridization experiments show that Hoxb1, Hoxa1 and Hoxa3 define sub-domains within the second heart field (SHF). Our genetic lineage analysis reveals the contribution of Hoxb1+ cardiac progenitors to the atria and to the inferior wall of the outflow tract (OFT), which then gives rise to the myocardium at the base of the pulmonary trunk. Interestingly, Hoxa1+ progenitors contribute to the distal part of the OFT suggesting that these anterior Hox genes could play a role in its proximo-distal patterning. No cardiac anomalies had been reported so far in Hoxb1 mutant mice. However, our detailed study shows that mutant fetuses exhibit OFT misalignment and ventricular septal defects associated or not with ventricular wall and epicardium anomalies. Using a marker of the sub-pulmonary myocardium, we observe an abnormal contribution of SHF cells in Hoxb1-/- hearts. This defect is the consequence of the dysregulation of the signaling pathways controlling SHF regulation. Accordingly, those embryos exhibit a shorter OFT. The study of Hoxa1 mutant embryos reveals pharyngeal arch arteries patterning defects causing anomalies of the aortic arch and right subclavian artery at fetal stages. Using compound mutants, we show an increase in the penetrance and severity of these defects, suggesting a synergistic interaction between Hoxa1 and Hoxb1 during aortic arch patterning. Together, these data support a crucial role for anterior Hox genes in cardiac development
Guevara, Virna Maria. "Avaliação dos motivos de referenciamento ao ambulatório de cardiologia pediátrica da Policlínica Municipal de Sorocaba pela atenção primária: criação de proposta de interação educacional em serviço." Pontifícia Universidade Católica de São Paulo, 2014. https://tede2.pucsp.br/handle/handle/9496.
Повний текст джерелаIntroduction- The prevalence of congenital cardiovascular disease is of 7 to 10 children in every 1000 live births. The reasons that lead to the referral of a child by primary care physicians are very varied, with cardiac heart murmur being the most common. Amongst other reasons one can find precordial pain, arrhythmia, fatigue, dyspnea, cyanosis, abnormal chest x-ray, abnormal electrocardiogram, medical examination for physical exercise. The present challenge for pediatricians, family physicians and pediatric cardiologists is to develop accurate diagnosis strategies in a cost-effective manner, with the aim of improving the treatment and save resources. Objectives- The objective is to strengthen the network of health care in its primary and secondary levels using cases of Pediatric Cardiology as the strategic condition and develop an interdisciplinary work proposal with the support of a matrix, which optimize the referral system. Material and methods- It is about the exploratory study with descriptive documental analysis from 433 referral letters of patients seen at the Pediatric Cardiology Ambulatory of Policlinic of Sorocaba from January to June 2012, along with the study of the patients medical records. The data collected is quantified using descriptive statistics when relevant. Results- One hundred and sixty-six patients (38,3%) were discharged, 93 with feedback letter of referral (56,0%). Ninetysix (22,2%) missing follow up, 9 of which had confirmed cardiovascular disease, 29 with absence of cardiovascular disease and 58 without a definitive diagnosis of cardiovascular disease. One hundred and seventy-one patients (39,5%) attend follow-ups. Conclusion- With the aim of strengthening the network of health care using recent medical advances, such as telemedicine and the concept of matrix support, as means of exchange, improvement and to save resources and knowledge
Introdução - A prevalência das cardiopatias congênitas está entre sete a dez crianças por 1000 nascidas vivas. Os motivos que levam o médico da atenção primária a encaminhar uma criança ao cardiologista pediátrico são bastante variados, sendo o sopro cardíaco a causa mais frequente. Dentre outros motivos frequentes encontram-se dor precordial, arritmias, cansaço, dispneia, cianose, radiografia de tórax anormal, eletrocardiograma alterado, avaliação para atividade física. O desafio atual dos pediatras, médicos de família e cardiopediatras é desenvolver estratégias de diagnósticos precisos e financeiramente adequados, com o intuito de melhorar o tratamento e racionalizar os recursos. Objetivos - O objetivo é fortalecer a rede de atenção à saúde em seus níveis primário e secundário, utilizando-se dos casos de Cardiologia Pediátrica como condição estratégica e desenvolver uma proposta de trabalho interdisciplinar e de interação com apoio matricial, otimizando o sistema de referência e contrarreferência. Material e método - Trata-se de estudo exploratório com análise documental descritiva das 433 guias de referenciamento de pacientes atendidos no ambulatório de Cardiologia Pediátrica da Policlínica Municipal de Sorocaba, no período de janeiro a junho de 2012, acompanhado do estudo dos prontuários. Os dados obtidos foram quantificados e utilizada a estatística descritiva quando pertinente. Resultados - Cento e sessenta e seis pacientes (38,3%) tiveram alta, 93 com contrarreferência (56,0%) preenchida. Noventa e seis pacientes (22,2%) perderam o seguimento, sendo nove com doença cardiovascular presente, 29 com doença cardiovascular ausente e 58 sem diagnóstico definitivo de doença cardiovascular. Cento e setenta e um pacientes (39,5%) pacientes mantêm seguimento. Conclusão A fim de se fortalecer a rede de atenção à saúde, a utilização de recentes avanços, como a telemedicina e o conceito de apoio matricial se colocam como meios de troca, otimização e racionalização do conhecimento e dos recursos
Grau, Claudia Regina Pinheiro de Castro. "Análise ecocardiográfica evolutiva tardia da função ventricular direita no pós-operatório da tetralogia de Fallot: associação com alterações histopatológicas preexistentes do miocádio." Universidade de São Paulo, 2018. http://www.teses.usp.br/teses/disponiveis/5/5131/tde-02082018-112642/.
Повний текст джерелаIntroduction: We have previously demonstrated that the myocardial remodeling at the time of corrective surgery in tetralogy of Fallot (TF) patients influenced the right ventricular (RV) function in the early post-operative period (PO). The impact of myocardial fibrosis in late follow up (LFU) has not been investigated so far. Our objective was to analyze in the same cohort of patients in LFU, the RV function, comparing the obtained results with echocardiographic data from the early PO and with myocardial morphometry. Methods: 20 patients in the late FLU of TF correction were studied (time of follow up = 96.6 ± 13.3 months), 15 men (75%), mean age at LFU 128.3 ± 25.7months. The early (e\') and late (a\') diastolic and the systolic (S\') myocardial velocities were evaluated through tissue Doppler in the pre-operative period, three days after surgery, between the 30o-90o days and in LFU. We analyzed conventional echocardiographic parameters like the tricuspid annular plane systolic excursion (TAPSE), the fractional area change (FAC), the indexed right atrial volume, the peak early diastolic filling velocity (E) and of myocardial deformation: global longitudinal strain (GLS), global longitudinal systolic strain rate (GLSRs) and global longitudinal strain at the peak of the isovolumetric relaxation time (GLSTRIV) in the LFU. Also in LFU we analyzed by tridimensional echocardiography the ejection fraction and the final RV diastolic and systolic volumes. Results: The a\' velocity decreased in the initial evaluations and persisted abnormal in LFU (RM ANOVA, p < 0.001). There was a significant and negative correlation between e\' in LFU and the area fraction of myocardial fibrosis (FIBR) (p = 0.02; r = -0.54) and a positive correlation between FIBR and E/e\' ratio (p = 0.0002; r = 0.787). In the LFU TAPSE decreased (1.50 ± 0,19cm) and FAC was normal (47.51 ± 7.56%). The GLS value was 18.48 ± 2.97%, with Z score <- 2 SD in 16 patients, and was significantly different in the mid ventricular septum (Z score <- 2 in 5 patients) and in the mid segment of the lateral wall (Z score < -2 in 1 patient). There was a negative correlation between FIBR and GLS in the mid ventricular segment of the septum (p = 0.0376; r = -0.493), however without influence in GLS. In LFU pulmonary regurgitation was considered moderate or severe in 15 patients (75%), with no difference relative to the group with mild regurgitation regarding FIBR (p = 0.58). The final indexed RV volumes were increased: diastolic (89.5 ± 34.3ml/m2; Z score > 2SD in 12 patients) and systolic (40.6 ± 9.1ml/m2; Z score > 2SD in 14 patients). The mean RV ejection fraction was normal (51.8 ± 6.9%), and did not correlate with FIBR. Conclusions: The LFU echocardiographic evaluation identified evolutive and adaptative alterations in RV function, with preserved systolic and abnormal diastolic function, associated with the degree of FIBR assessed in myocardial samples; the study of myocardial deformation indexes revealed regional and global alterations, possibly related to the abnormal myocardial architecture specific for the cardiac malformation and/or to post-surgical adaptation to patches and sutures; the tridimensional echocardiography data correlated positively with those obtained through bidimensional echo; pulmonary regurgitation was a highly prevalent residual lesion
Pinto, Rubens Fraga Alves. ""Avaliação imunohistoquímica das células inflamatórias presentes na parede de artérias pulmonares periféricas de pacientes com doença vaso-oclusiva pulmonar secundária a defeitos cardíacos congênitos"." Universidade de São Paulo, 2004. http://www.teses.usp.br/teses/disponiveis/5/5131/tde-26102005-163503/.
Повний текст джерелаTo evaluate the hypothesis of increased inflammation in peripheral pulmonary arteries from patients with pulmonary hypertension secondary to congenital cardiac shunts, we quantified the inflammatory cells with the aid of immunohystochemistry in 26 biopsies (HP group), comparing them to 11 patients with no cardiac disease. Similar quantities of inflammatory cells were observed in the two groups, with a predominance of T-lymphocytes in the controls and of young macrophages in the HP group. These findings could be related to a reduction of macrophagic stimulus to the differentiation and maturation of T-lymphocytes and/or to a primary immunological deficiency in patients with congenital cardiac shunts
Amedro, Pascal. "Qualité de vie en cardiologie pédiatrique et congénitale." Thesis, Aix-Marseille, 2016. http://www.theses.fr/2016AIXM5011/document.
Повний текст джерелаCongenital heart diseases (CHD) are the leading cause of birth malformations. The tremendous progress since the 80’s (neonatal bypass, prenatal diagnosis) have changed the epidemiology, transferring mortality from pediatrics to adulthood. Therefore assessing the health-related quality of life (QoL) of children and adults suffering from CHD has become an important issue, in both clinical research and patients’ follow-up. We carried out 4 prospective QoL studies in patients with CHD: a study in 282 CHD children aged 8 to 18 compared with 180 controls; a study among 202 CHD children correlating their QoL scores to VO2; a QoL study among 208 adolescents and adults with PAH-CHD; and a study among 111 children in a therapeutic anticoagulation education program aiming to measure the evolution of their QoL. Patients with simple CHD showed a similar QoL to that of the control population. Those with complex heart diseases were preferentially affected in their physical well-being but also developed mechanisms of coping in other dimensions. In pediatrics, the evaluation of the QoL by parents is essential, sometimes more accurate than that of children themselves. As in previous studies in adults with heart failure, we found a significant relationship between QoL and physical performance during exercise in CHD children. The results of our work should help cardiologists, cardiac surgeons and pediatric cardiologists in their diagnostic announcement, especially during crucial moments of this medical and surgical subspecialty: prenatal diagnosis, intensive care, transition of care from adolescence to adulthood, palliative treatment of a complex CHD
Kasmi, Leila. "Devenir neuropsychologique et psychosocial d’adultes ayant été opérés d’une cardiopathie congénitale cyanogène en période néonatale." Thesis, Paris 8, 2016. http://www.theses.fr/2016PA080048.
Повний текст джерелаCyanotic congenital heart diseases (CHD) are heart defects which cause oxygen desaturation at birth. In the last twenty years, the major progress in the medical and surgical care of newborns with cyanotic CHD has resulted in a considerable improvement of the survival and the long-term cardiac prognosis of this population. However, these children are at an increased risk of neurological injuries due not only to the cyanotic nature of their CHD but also to certain open-heart surgery techniques. Consequently, neurocognitive disorders are among the major remaining morbidities in this population. Despite the exponential increase in the number of patients who can now reach adulthood, to date very few studies have investigated the neuropsychological outcomes of adults with cyanotic CHD. The main objective of the present thesis is to evaluate the neuropsychological and psychosocial outcomes of adults who had undergone an open-heart surgery during the neonatal period in order to correct a cyanotic CHD. The assessment, based on validated tools, is conducted among 67 patients aged from 18 to 31 years. The results show that a substantial proportion of patients with TGA presents a number of cognitive deficits and emotional impairments which may reduce their quality of life and hinder their academic success and their professional integration. This thesis offers original results on the long-term neuropsychological and psychosocial outcomes of this population. Further studies are needed so as to better understand the developmental trajectory of adults with cyanotic CHD in order to develop preventive and therapeutic strategies adapted to the specific needs of this population
Rondelet, Benoît. "Médiation humorale de l'hypertension artérielle pulmonaire dans un modèle de cardiopathie congénitale à shunt systémo-pulmonaire chez le porcelet en croissance." Doctoral thesis, Universite Libre de Bruxelles, 2008. http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/210373.
Повний текст джерелаCristo, Fernando Jorge Pego. "Molecular and functional analysis of DAND5 in human Congenital Heart Disease (CHD)." Doctoral thesis, 2016. http://hdl.handle.net/10400.1/10101.
Повний текст джерелаThe majority of congenital heart disease (CHD) is sporadic, with a minority of cases associated with a known genetic abnormality. Combinations of geneticenvironmental factors are implicated in the etiology of the disease. Recently, several studies, using mostly animal models, unraveled that perturbations in the molecular processes that precede the beginning of heart development might also be at the origin of CHD. In fact, some of the most complex CHDs are found associated with laterality defects, a disorder resulting from abnormal Left-Right axis formation. In our laboratory, the identified mouse Cerberus-like2 (Cerl2 – human DAND5), a protein that inhibit Nodal signaling, prompt us to study cardiac and laterality diseases, since the generated Cerl2 KO mice display a wide range of laterality defects and CHD. Considering the high conservation of genetic pathways regulating cardiac development in mouse and human, the main objective of the present thesis was the study of human genes involved in the Nodal pathway, focusing mostly in DAND5, in a CHD and/or laterality defects patients cohort. The sequence analysis of DAND5 revealed two patients displaying the same p.R152H variant, resulting in a substantial decreased in the function of the protein. We propose that p.R152H acts as a risk allele for CHD and/or laterality defects. In addition, we found two alterations in NODAL, two alterations in PITX2C and one alteration in CFC1. We hypothesized that the NODAL p.H165R variant can act as a common modifier and the intronic variants in NODAL and PITX2C might cause alterations in the splicing pattern of the mRNA molecules. Moreover, we generated patient-specific iPSCs to understand the molecular mechanisms of disease behind the DAND5 nucleotide variant. Although we cannot make a clearly genotype-phenotype correlation, the variants here identified probably increase the disease susceptibility due to the resulting abnormal Nodal signaling. Because most of the patients presented more than one alteration, the cumulative effect of each variant within the pathway seems to enhance even more these risk. Therefore, the imbalance in dosage-sensitive Nodal signaling is a common denominator for laterality defects and associated CHDs.
Uma das questões fulcrais da biologia do desenvolvimento continua a ser como é que uma única célula, o oócito fecundado, se desenvolve num ser tão complexo e especializado, com os tecidos e órgãos diferenciados e organizados em torno de três eixos, o anterior-posterior (AP), dorso-ventral (DV) e esquerdo-direito (LR). De um modo geral, o desenvolvimento embrionário humano pode ser dividido em três períodos: o primeiro, chamado de período zigótico, inicia-se com a fusão dos gametas masculino e feminino, formação do zigoto e termina com a implantação do blastocisto na parede do útero duas semanas após a fecundação. Durante o segundo período, ou período embrionário, que vai desde a terceira até à oitava semana de gestação, ocorre a gastrulação, com a formação e diferenciação dos folhetos embrionários (ectoderme, mesoderme e endoderme), e a formação dos órgãos e sistemas fisiológicos. O ultimo período, chamado fetal, vai desde o terceiro mês de gestação até ao nascimento e é caracterizado pelo crescimento do embrião, maturação e funcionalização das estruturas e órgãos. Durante o desenvolvimento do embrião, o coração é o primeiro órgão interno a ser formado e a tornar-se funcional de modo a bombear sangue por volta das três semanas de gestação, suprindo as necessidades do embrião e garantindo a sua sobrevivência. Na maioria dos vertebrados o desenvolvimento cardíaco segue o mesmo padrão de formação. O coração forma-se a partir de duas regiões cardíacas bilaterais que advêm de uma região progenitora comum na gastrulação, a mesoderme cardíaca. A mesoderme cardíaca recebe informação posicional dos três eixos embrionários, porém o efeito do eixo Esquerda-Direita (ED) tem recebido particular atenção. Os dois “pools” bilaterais de células precursoras cardíacas mesodermais migram para a linha média onde se juntam e dão origem ao crescente cardíaco. Este crescente cardíaco vai formar posteriormente um tubo cardíaco linear primordial. De seguida, este tubo alonga e sofre um processo de “looping” para a direita levando à formação dos ventrículos e aurículas. Subsequentemente, ocorre a diferenciação, especialização e septação das quatro camaras cardíacas e válvulas proporcionando as paredes necessárias para a separação física da circulação sistémica e pulmonar de sangue. Por último a formação do sistema de condução cardíaco e maturação dos cardiomiócitos, culminam na formação de um coração inteiramente funcional. As doenças cardíacas congénitas (DCC) são a manifestação clínica de problemas durante o desenvolvimento embrionário do coração. Esta doença é a forma mais comum de defeito à nascença, ocorrendo em cerca de 8 em 1000 nados vivos, bem como a principal causa não-infeciosa de morte no primeiro ano de vida. Na maioria dos casos (80%), esta doença tem origem desconhecida e manifesta-se isoladamente em doentes não sindrómicos e não seguindo os padrões de hereditariedade definidos por Mendel, sendo considerada uma doença complexa com origem multifatorial. Esta complexidade advém do facto de a doença em muitos casos se apresentar geneticamente heterogenica, com penetrância reduzida e expressividade genética variável. Para além disso, fatores de risco ambientais foram também identificados como contribuído para o risco de desenvolver a doença. Nos dias de hoje, um modelo envolvendo tanto fatores genéticos como a interação genes-ambiente, é a explicação mais plausível para as altas frequências verificadas para a doença cardíaca congénita. Nos últimos anos, vários esforços foram feitos de modo a se compreender os mecanismos moleculares que levam a uma má formação do coração. Estes estudos, usando principalmente animais modelo e genética molecular humana, da morfogénese do coração e dos primeiros passos da determinação do eixo de simetria esquerdo-direito durante a embriogénese, indicam que na maioria dos casos de distúrbios de lateralidade é observada uma malformação cardíaca complexa, sugerindo que as DCC podem dever-se a defeitos de lateralidade na morfogénese do coração. Uma das redes regulatórias por detrás do estabelecimento do eixo esquerdodireito é a via de sinalização Nodal, um fator de crescimento da família TGF-b, que é expresso assimetricamente do lado esquerdo do nó e placa lateral esquerda da mesoderme de ratinho. Os fenótipos cardíacos de ratinhos geneticamente modificados para desativar a sinalização de nodal ou a sua regulação, demonstraram que o desenvolvimento cardíaco depende vivamente do estabelecimento do eixo E-D embrionário. Para além disso, foram identificadas variantes genéticas em genes envolvidos na via de sinalização Nodal em doentes com DCC. O nosso laboratório identificou um membro da família Cerberus/DAN, o gene Cerberus-like2 (Cerl2), que é assimetricamente expresso no lado direito do nó em ratinho. O gene Cerl2 codifica para uma proteína secretada capaz de se liga diretamente a Nodal, inibindo a sua via de sinalização. Na presença de Cerl2 a atividade da via de sinalização Nodal restringe-se apenas ao lado esquerdo do embrião, o que culmina com uma morfogénese normal dos órgãos do abdómem. Ratinhos knock-out para o gene Cerl2, em que o gene Nodal passa a poder ser expresso e induzir a sua cascata de sinalização em ambos os lados da placa lateral da mesoderme, revelaram uma ampla gama de defeitos de lateralidade - situs inversus, isomerismos e heterotaxia - e malformações cardíacas - formação incompleta das aurículas, defeitos no septo ventricular, falha na rotação das principais artérias (transposição das grandes artérias, ventrículo direito de dupla saída), looping cardíaco anormal (randomizado), posicionamento do ápex cardíaco e hipertrofia ventricular - o que nos levou a suspeitar que alterações neste gene poderiam estar associadas a doenças de lateralidade e/ou casos isolados de doenças cardíacas congénitas. Dado que as vias genéticas que regulam o desenvolvimento cardíaco em ratinhos e humanos são conservadas, o principal objetivo desta tese foi o estudo de alguns dos genes homólogos humanos envolvidos na via de sinalização Nodal, com principal foco no gene DAND5, homólogo humano de Cerl2, mapeado no cromossoma 19, região 19p13.2, mas também verificando a existência de variantes nos genes NODAL, PITX2C e CFC1 numa cohort de doentes com defeitos cardíacos congénitos com origem em perturbações do eixo esquerdo-direito. A análise dos resultados da sequenciação de DNA do gene DAND5 permitiunos identificar dois doentes com a mesma variação. Clinicamente, um dos doentes apresenta um fenótipo de defeito no septo ventricular com aorta conectada aos dois ventrículos, atresia pulmonar e isomerismo esquerdo. O outro doente apresenta um caso extremo de tetralogia de Fallot (defeito no septo ventricular com aorta conectada aos dois ventrículos, hipertrofia do ventrículo esquerdo e atresia pulmonar). A variante, identificada nos dois doentes como heterozigótica, leva à substituição de um nucleótido guanina por uma adenina na posição 455 do exão 2, resultando na substituição de um aminoácido arginina por uma histidina (p.R152H) numa região altamente conservada e funcionalmente importante da proteína DAND5. De modo a entendermos o potencial efeito da alteração p.R152H na proteína DAND5, fizemos um estudo in silico recorrendo a vários programas bioinformáticos. Os resultados dessas predições foram inconclusivos uma vez que 3 programas apontam para um possível efeito nefasto enquanto que outro programa sugere que a variante não tem qualquer efeito na proteína. Para clarificarmos a função desta proteína variante, avaliámos o seu efeito na regulação da via de sinalização Nodal recorrendo a um ensaio funcional de luciferase. O resultado obtido mostra uma diminuição substancial da função da proteína mutante comparada com a proteína wild-type. Embora os fenótipos dos doentes sejam muito semelhantes, não podemos fazer uma clara correlação do genótipo com o fenótipo pois a variante c.455G>A foi reportada em bases de dados publicas como variante de nucleótido único (rs45513495). Além disso, a mãe de um dos doentes é portadora da variante sem apresentar indícios de doença, sugerindo uma penetrância incompleta, expressividade genética variável ou o efeito de fatores ambientais. Estas observações estão de acordo com a complexidade das doenças cardíacas congénitas e/ou defeitos de lateralidade e podem refletir a acção de variantes modificadoras ou outras variantes genéticas na via de sinalização que podem exacerbar ou atenuar o efeito da variante p.R152H na proteína DAND5 e nos fenótipos dos doentes. Portanto, nós propomos que esta variação no gene DAND5 pode ser um alelo de risco para o desenvolvimento de DCC e/ou defeitos de lateralidade. Por esta razão, decidimos levar a cabo uma busca de possíveis alterações em genes que fazem parte desta cascata Nodal. Foram assim identificadas uma nova alteração na zona codificante do gene CFC1, sem efeito funcional aparente, e quatro polimorfismos, um na zona codificante e outro no intrão do gene NODAL e dois na zona não codificante do gene PITX2C em doentes com uma vasta gama de defeitos. Tendo em conta a análise levada a cabo por um programa bioinformático que permite analisar se alterações genéticas podem afetar o processo de splicing, nós verificamos que de facto, as variantes genómicas encontradas fora das zonas codificantes dos genes NODAL e PITX2C podem resultar em moléculas de RNA mensageiro anormais, principalmente devido à criação ou disrupção de locais para a ligação da maquinaria de splicing. Quanto à variante na zona codificante do gene NODAL, esta encontra-se no exão 2, e leva à substituição do aminoácido Histidina por uma Arginina na posição 165 (p.H165R). Esta variante já tinha sido reportada em dois estudos de 2008/2009 nos quais os autores verificaram, recorrendo a um ensaio funcional de lucifarese, que a variante leva à redução da atividade da proteína NODAL e parece atuar como variante modificadora e como fator de risco quando associada a outras possíbeis alterações em genes da via Nodal, com os quais este normalmente interage. Para além disto, e com o objetivo de modelar a doença e estudar os mecanismos moleculares por de trás de uma simples variação num nucleótido, geramos células estaminais induzidas de um dos doentes com a variante no gene DAND5. Estas células foram caracterizadas, apresentado uma morfologia, expressão de marcadores pluripotentes e cariotipo normais. Em conclusão, embora não possamos fazer uma correlação dos genótipofenótipo, nem classificar as alterações identificadas neste estudo como alelos associadas a doença por si, estas variantes, podem, no entanto, aumentar a suscetibilidade para o desenvolvimento de DCC e/ou defeitos de lateralidade. Uma vez que a maioria dos doentes apresenta mais do que uma das variantes no seu genoma, o efeito cumulativo de cada variante na via parece aumentar ainda mais o risco para desenvolver doença. Portanto, o desequilíbrio dos níveis adequados da via de sinalização Nodal, em ambos os lados da placa lateral da mesoderme, devido a uma ou várias variantes nos seus componentes, é um denominador comum para defeitos de lateralidade e/ou doenças cardíacas congénitas.
Abbate, Zachary. "Pediatric sequential organ failure assessment score in a congenital heart defect population." Thesis, 2020. https://hdl.handle.net/2144/41122.
Повний текст джерела2022-06-02T00:00:00Z
Chiu, Wei-Hsiu, and 邱偉修. "The application of prenatal ultrasound in fetal congenital heart diseases." Thesis, 2018. http://ndltd.ncl.edu.tw/handle/s4j2f6.
Повний текст джерела國立陽明大學
生物醫學影像暨放射科學系
106
Prenatal ultrasound screening is widely employed for detecting fetal congenital malformations and structural defects. In previous studies, the prevalence of fetal congenital anomaly ranged from 19.8/1000 to 23.9/1000 total live births. In the presence of fetal congenital anomaly, fetal congenital heart disease (CHD) are highly prevalent in newborns. The incidence of fetal CHD is 3 to 10 per 1000 live births. The leading causes of mortality and morbidity in the perinatal and infant population are related to congenital heart diseases. In some studies, the chromosomal anomalies associated with CHD were trisomy 21, trisomy 13, trisomy 18, and so on. Nowadays, the standard screening of fetal CHD depends on the prenatal sonography. Several screening images for CHD developed to increase the detecting rates in different cases of CHD. Four-chamber view is the basic view used for the screening of two atrioventricular valves, ventricular septum, and right or left atrium and ventricle anomaly. In outflow tract views, assessment of the left ventricular outflow tract (LVOT) and right ventricular outflow tract (RVOT) is the routine method. Three-vessel and trachea (3VT) view and three-vessel view (3VV) could increase the detection rate up to 89% in two great vessel abnormality. In the series of my studies, the objectives are mainly focusing on using prenatal ultrasound for examination of fetal congenital malformations. The study results analysis were compared with traditional screening method in fetal CHD. The trend of fetal NBL, UA PI, and MCA PI in VSD’s fetuses were also compared with non-VSD’s fetuses. 1. Length to Width Ratio of the Ductus Venosus in Simple Screening for Fetal Congenital Heart Diseases in the Second Trimester: From September 2012 to September 2013, the length and width of the fetal ductus venosus were measured sonographically in 1006 singleton fetuses, and the ratio of length to width was calculated. Of the 1006 singleton fetuses between 19 and 28 weeks' gestation, 36 had CHD. The ductus venosus length/width ratio (DVR) for the first CHD screening was extremely sensitive at 88.90%, with a specificity of 99.10% for the cardiac abnormalities included in this study. The DVR differed significantly between fetuses with CHD and normal fetuses during the second trimester. 2. Prenatal Ultrasonography and Doppler Sonography for the Clinical Investigation of Isolated Ventricular Septal Defects in a Late Second-Trimester Population Fetal echocardiogram, Doppler ultrasound and biometry were measured by well-trained technicians for 2661 singleton fetuses between August, 1, 2006 and May, 31, 2010. The results show that 124 out of 2661 singleton fetuses between 19 and 24 weeks' gestation had isolated VSD. Using multiple logistic regression analysis, in addition to short fetal NBL (OR=0.691, 95%CI: 0.551-0.868), PI of the umbilical artery (UA) (OR=8.095, 95%CI: 4.309-15.207) and the middle cerebral artery (MCA) (OR=0.254, 95%CI: 0.120-0.538) were the significant factors associated with isolated VSD. Late second-trimester fetal NBL, UA PI, and MCA PI are useful in detecting isolated VSD and may be used to adjust the a priori risk of both high- and low-risk women for isolated VSD. 3. The Association Between Tricuspid Regurgitation and Low AFI in the Late Second Trimester Clinical data on tricuspid reverse flow (TR) cases were extracted from two large regional medical centers from May 2014 to April 2015. A total of 209 cases of pregnant women were studied. Our data showed the RA-PI increased and RA-VTI significantly decreased, which lead to a reduction in urine production. For the AFI below 5.0 cm group, the right heart function and the renal blood flow dynamics are worse than the AFI above 15.0 cm groups. The result indicated that the blood volume of fetal blood circulation is closely associated with the fetal urine production. In clinical practice, we might need to be concerned about and conduct further examinations of the right heart function or kidney blood-flow dynamics when AFI is less than 10 cm. In our series of studies on the use of prenatal ultrasound examination to assess the risk of fetal defects, compared with the traditional methods in the past, this series of simple and rapid methods is mainly used to provide the first choice for clinical prediction of the risk of fetal defects.
Μπάκα, Πανωρέα. "Μοντελοποίηση της ροής του αίματος σε στένωση προκαλούμενη από περίδεση της πνευμονικής αρτηρίας". Thesis, 2010. http://nemertes.lis.upatras.gr/jspui/handle/10889/3264.
Повний текст джерелаCardiovascular diseases are the leading cause of death in developed countries. A stenosis in an artery , caused either by a disease such as an aneurism or by a banding (such as in congenital diseases) can change the characteristics of the blood flow very seriously. The study of the physiological pulsatile flow through a stenosis is very important for the diagnosis and treatment of the arterial diseases. The medical problem which is examined in this study is pulmonary artery stenosis caused by a banding. The banding takes place to reduce the high arterial pressure and finally the blood flow from the heart to the lungs. It is a surgical method used for treatment of congenital heart diseases. The pulmonary artery banding either with the use of the conventional method or the most modern with the use of the FloWatchTM technology causes stenosis of the artery. With the conventional method, stenosis can be considered axially symmetrical while with the use of FloWatchTM it is asymmetrical. It has been proven that both the axially symmetrical and asymmetrical banding cause fibrosis of the pulmonary artery walls of different degrees. The reconstruction of the pulmonary artery is milder where there is banding with FloWatchTM. This differentiation is based mainly on the fact that the conventional banding causes, for a specific decrease of the cross-section, a decrease in the perimeter of the cross-section higher than that of banding with FloWatchTM. In this assignment there is a report of different cases of flow in arterial stenosis, in congenital heart diseases and pulmonary banding techniques. In addition what was studied and appreciated was the steady and pulsatile flow in axially symmetrical 25% stenosis caused by the conventional banding, as well as the steady and pulsatile flow in asymmetrical 25% stenosis of pulmonary artery caused by FloWatchTM with the use of Fluent and Gambit. The numerical study of flow distribution includes velocity distribution, designation of back flow area, distribution of pressure and comparison of these quantities with the results in bibliography. Finally, based on the results, there is a comparison of the two banding methods under study. The numerical realistic data were received from the cardio-surgical clinic of children’s hospital “Aghia Sophia”.
Hsieh, Alexander Lin. "Mosaicism and the genetic architecture of congenital heart disease." Thesis, 2020. https://doi.org/10.7916/d8-30fy-f349.
Повний текст джерелаLin, Chu-Chuan, and 林竹川. "Analysis of Case Payment Resource Utilization for Patients with Congenital Heart Diseases." Thesis, 2007. http://ndltd.ncl.edu.tw/handle/05358065479239845737.
Повний текст джерела國立中山大學
醫務管理研究所
95
Objective: Since its implication, case payment system prevailed and increased cases number in the following years. Hospitals in Taiwan face continous challenge with emerging policies such as global budget and TW-DRG system, which is soon on the way. Remarkable medical resource comsuption is seen in patients with congenital heart deseases, with presence of structural heart defects at birth. The corrective treatment of congenital heart diseases, surgical and transcather, is usually undertaken in large-scale Hospitals in Taiwan.Congenital heart diseases. Items of case payment for congenital heart diseases treatment were implented years ago. However, in the literature there is yet no research about the results of its implentation. This study focus on three objectives: 1.To study of medical resource consumption of case payment system with congenital heart diseases. 2.To study the effect of patient and provider attributes on medical resource consuption in the case payment with congenital heart diseases. 3.To provide the evidence-based information for forcoming NHI policies. Materials and Methods: Retrospectively, claims data from Bureau of National Health Research Insurance (BNHI) for resource utilization of case payment for congenital heart diseases was analyzed. The data includes DD(Inpatient expenditures by admissions) and HOSB(Registry for contracted medical facilities) files ranged from 1997 to 2005. Data items meeting the criteria of both CHD and case payment were extracted. The relationships between patient factors (age, sex, DRG code), healthcare provider (contract type, accreditation type, ownership, area) and resource utilization (length of stay, expenditure) were studied. Results: A total of 4,366 admissions for CHD case payment was enrolled. The mean patients’ age is 14.56 years. Female accounts for 55.46 % of the admissions. Among them there are 3954 open heart surgeries and 412 transcatheter treatments. Average hospital day is 11.6 and 3.37 days respectively. Average payment per case is NT$215,355 and NT$61,819 respectively. Different degrees of resource utilization occur with different patient or hospital characteristics, with statistical signifcance. More resource utilization tends to occur in extremes of age groups, e.g., newborn and elderly populations, regardless open heart surgery or transcatheter treatment cases. Also more hospital fee occurred in private hospital than public hospital, but less in medical centers when compared to metropolitian hospitals. For regression analysis of dependence of resource consumption on patient and hospital factors, the overall power of explanation is higher in transcather treatment cases. Among the factors influencing medical resource utilization, age_group and ownership are respectively the most significant factors. Conclusion: We have verify the hypothesis in this study, which emphasize that resource utlization differs by different patient and hospital factors. The pattern of resource utilization for this unique disease (CHD) and its discrepancy with concurrent payment criteria are evaluated in this study. Based on our results, adjustment of payment criteria should be reasonable to ensure early and adequate treatment for these patients. Thus this study provides strong insight for implication of TW-DRG for disease management. Further study will include aspects of resource utlization such as direct, indirect costs, tangle and intangle, and related complication and comorbidities.
YING, LIU YI, and 劉懿瑩. "The Study of Knowledge of Adolescents with Congenital Heart Diseases and Their Parents." Thesis, 2016. http://ndltd.ncl.edu.tw/handle/39378624535720195203.
Повний текст джерела弘光科技大學
護理研究所
104
Background: Congenital heart diseases (CHD) were a gross structural abnormality of the heart or intra-thoracic great vessels that is present at birth. Due to of progress made in cardiovascular surgery, most children with CHD were expected to survive to adolescence , even to adulthood. if the adolescents with congenital heart disease have enough knowledge of their disease , they can develop a positive adjustment capability and bring up their own health-promoting behaviors, master and create their own health state to extend their life to adulthood. This will be an important issue for adolescents with congenital heart disease. Objective: This study aimed to explore and analyze the relationship between congenital heart disease adolescent's and their parents for Congenital Heart Diseases knowledge and their related factors for adolescents with congenital heart disease. Methods: This study was a cross-sectional and descriptive correlation research design. Convenience sampling method was used by selecting 89 adolescents between ages 12-18 and their parents with the research requirements from the outpatient departments of pediatric congenital cardiology of the medical centers in Central Taiwan. The data collected by this method was through a constructive questionnaire composed of Leuven Knowledge Questionnaire for Congenital Heart Disease (LKQCHD). The collected data was SPSS version 20.0 then analyzed through the numerical and descriptive statistics, Pearson’s product-moment and independent sample t test, Chi-square test, analysis of variance (ANOVA), and multiple linear regression analysis. Results: In this study, from 89 families to participate in a total of 178; 40 adolescents, adolescent girls have 49, the average age was 15.33 ± 3.03 years. To participate in this study father 16, mother 73, the average age was 44.73 ± 6.17 years. Level of education, the adolescents junior (including) in the following occupy to 56.18% majority, with parents who graduated from high school level occupy to 47.19 percent majority. Self-rated health , adolescents have overall score of 21.12 ±3.52points, parents overall score of 21.47 ± 3.73 points. In aspects of knowledge of the source of the disease, the parents most of the information from the medical staff occupy to 94.38%, newspapers and magazines, While mostly from parents, adolescents with congenital heart disease (67.42%).The congenital heart disease knowledge awareness level rating, CHD adolescents average score of 16.61 ± 3.61 points.The overall rate of 53.57% of correct answers; parental average score of 18.58 ± 3.17 points, the overall rate of 59.95% of correct answers. The study patients had adequate knowledge (>80% correct answers) about the need for regular follow-up, required diet, past treatment, and dental practices. They had moderate knowledge (50-80% correct answers) about the frequency of follow-up, medication regimen, the effects of competitive sports, and the impact of alcohol on their heart disease . However, the patients had poor knowledge (<50% correct answers) of the name of their heart defect; the reasons for follow-up; the effects of competitive sports; the symptoms that reflect deterioration of their heart disease, the definition, characteristics, and risk factors of endocarditis, the possibility of recurrent episodes of endocarditis during their lifetime; the impact of smoking on their heart disease; the hereditary nature of their condition; the suitability of intrauterine devices as contraceptives; the appropriateness of oral contraceptives; and the risks of pregnancy. CHD overall level of understanding, self-health status, educational attainment, and family socioeconomic status level, the differences were statistically significant (p <.001), CHD knowledge cognitive factors also affected. Conclusion: The study found although the adolescents parents than CHD significantly better disease knowledge awareness, and the overall level of understanding of CHD The the better, the more adequate cognitive knowledge of the disease.But parents knowledge correctness, it will affect the accuracy of adolescents The CHD knowledge, knowledge of cognitive disease better, better able to realized in the future how to prevent heart disease risk, future prevention of complications. However, clinical Nursing staff in providing sufficient knowledge The CHD is very limited.Therefore, this study may provide Nursing staff care in the implementation of health education, according to the knowledge of the disease than the lack of adolescents CHD part to provide comprehensive plan, measure, and the connecting, and follow-up care of cooperation and to reach the complete model of care.
Carvalho, Ana Catarina do Rego. "Newborns with Suspected Congenital Heart Diseases Demanding Emergency Transport: 7 Years Casuistic Revision." Master's thesis, 2019. https://hdl.handle.net/10216/119949.
Повний текст джерелаCarvalho, Ana Catarina do Rego. "Newborns with Suspected Congenital Heart Diseases Demanding Emergency Transport: 7 Years Casuistic Revision." Master's thesis, 2019. https://hdl.handle.net/10216/119953.
Повний текст джерелаCarvalho, Ana Catarina do Rego. "Newborns with Suspected Congenital Heart Diseases Demanding Emergency Transport: 7 Years Casuistic Revision." Dissertação, 2019. https://hdl.handle.net/10216/119953.
Повний текст джерелаCHU, KUANG-HUA, and 朱光華. "Optimization of Cardioangiography for Congenital Heart Diseases via Taguchi Methodology and Accompanied Aadiation Doses." Thesis, 2017. http://ndltd.ncl.edu.tw/handle/g32sat.
Повний текст джерела中臺科技大學
醫學影像暨放射科學系暨研究所
105
ABSTRACT Taguchi's analysis was adopted to optimize the various factors referring to cardioangiography used to delineating the ductus arteriosus. The purpose of this study was to optimizate the cardioangiography for congenital heart diseases via Taguchi methodology and accompanied radiation doses. Thirty-six patients with PDA (type A) were enrolled from 2004 to 2005 in this study. A Taguchi’s L9 array was used to generate nine different designs of angiographic levels. Four controllable factors were selected and there were three levels for each as the following combinations. The optimal levels combination obtained by the S/N ratio to get the highest image quality for PDA was at (A) BSA <0.65m2, (B) projection angles: RAO 30O plus Cr15O and LAT view, (C) catheter locations: T 2.5 and (D) volumes of contrast medium: 1.0cc/kg. Further, the S/N ratio was 15.11 much better than conventional program 10.61 and the projection angle was found to be the most significant factor and not interacted by others, to delineate the ductus using the ANOVA test. Finally, the verification experiment was performed by setting the design with 12 PDA patients and S/N ratio was 14.25 revealing the better reproducibility. Otherwise, the dose evaluation was investigated through the TLD and farmer ion-chamber in five PMMA phantoms and the phantom was exposed to exposure and fluoroscope to obtain either effective or skin dose according to the ICRP-60 report. The derived effective dose and skin dose according to various BMI and dose-area product (DAP) were further reassembled into Statistica 7 program to derive several semi-empirical formulas in this work. There were four r2 values : r2 = 0.9767;r2= 0.9860;r2= 0.9520 and r2= 0.8875 for effective doses and skin doses during fluoroscope and exposure, respectively. Finally, 30 patients were performed using the verification experiments and demonstrated the advantages of the effective doses and skin doses only reassembling the BMI and DAP. The semi-empirical formula obtained in this study can be applied to estimate the effective and skin doses given by the examination.