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Dissertations / Theses on the topic 'Anemia syndrome'

Author: Grafiati
Published: 28 May 2022
Last updated: 30 July 2025

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1

Cherry, Anne Blanche Cresswell. "Reprogramming Pediatric Genetic Disorders: Pearson Syndrome, Ring 14 Syndrome, and Fanconi Anemia." Thesis, Harvard University, 2014. http://dissertations.umi.com/gsas.harvard:11410.

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The effect of a single genetic mutation can vary greatly between different types of cells. The mutated gene may not be expressed in one tissue but may cause a devastating loss of function in another. To learn about disease mechanisms and generate novel therapies, genetic disorders must be studied in the types of cells where the mutations are most deleterious. Recently, scientists have begun manipulating cellular identity to create the cell types most affected by various genetic diseases. This dissertation describes the experience of generating reprogramming models for three genetic disorde
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2

SAVARESE, ALICE. "¿CARDIORENAL SYNDROME-ANEMIA¿ COMPLEX IN SMALL ANIMAL MEDICINE: RESEARCH IN DIAGNOSTIC." Doctoral thesis, Università degli Studi di Milano, 2019. http://hdl.handle.net/2434/626513.

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La sindrome cardiorenale (CRS) può essere definita come un disordine fisiopatologico di cuore e reni in cui la disfunzione acuta o cronica di un organo può indurre una disfunzione acuta o cronica dell'altro. La cardiopatia acquisita più comune che colpisce i cani anziani e che porta a insufficienza cardiaca congestizia (CHF) è la degenerazione mixomatosa della valvola mitrale (MMVD). Il peggioramento della performance cardiaca e la riduzione della perfusione renale contribuiscono allo sviluppo della malattia renale cronica (CKD) (CRS tipo 2). Nei gatti la più frequente malattia cardiaca è la
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Arruda, Daisy Maria Meireles. "Aloimmunity against HLA class I antigens in patients with myelodysplastic syndrome and aplastic anemia." Universidade Federal do CearÃ, 2005. http://www.teses.ufc.br/tde_busca/arquivo.php?codArquivo=38.

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CoordenaÃÃo de AperfeiÃoamento de Pessoal de NÃvel Superior<br>Myelodysplastic syndrome (MDS) and aplastic anemia (AA) are two of the hematological disorders which present peripheral cytopenias, with extensive clinical manifestations that vary from slight anemia to severe pancytopenia; the latter requiring continuous transfusional reposition of red cell (RC) and platelet concentrates (PC), which can induce aloimunization in patients. Such patients can develop a post-transfusional refractory state, rendering further transfusions unviable. The objective of the present study was to investigate th
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Wu, Katie Jennifer. "The influence of UBE3A, NEDD4L, and ARFGEF2 on the progression of Angelman syndrome and sickle cell anemia." Thesis, Boston University, 2012. https://hdl.handle.net/2144/12683.

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Thesis (M.A.)--Boston University PLEASE NOTE: Boston University Libraries did not receive an Authorization To Manage form for this thesis or dissertation. It is therefore not openly accessible, though it may be available by request. If you are the author or principal advisor of this work and would like to request open access for it, please contact us at open-help@bu.edu. Thank you.<br>This project investigates the impact of UBE3A, NEDD4L, and ARFGEF2 on disorder and disease in humans. UBE3A is a member of the homologous to E6AP COOH-terminus (HECT) E3 ubiquitin ligase family and is parentally
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5

Frick, Thomas Patrick. "Klinischer follow-up und biochemische Untersuchungen bei einem Patienten mit einem thiamine-responsive megaloblastic anemia (TRMA) syndrome /." [S.l.] : [s.n.], 2008. http://opac.nebis.ch/cgi-bin/showAbstract.pl?sys=000277059.

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6

Araújo, Jerônimo Gonçalves de. "Oximetria transcutânea na síndrome torácica aguda em pacientes com anemia falciforme." Universidade Federal de Sergipe, 2007. https://ri.ufs.br/handle/riufs/3720.

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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior<br>Searching to trace the clinical profile, epidemiologist, evolution and laboratorial of the internments of patients with Sickle Cell Disease (SCD); to identify factors that can be related with the sprouting and evolution of Acute Chest Syndrome (ACS), as well as; to evaluate if the average saturation of oxygen through the oximetry of pulse is diagnosis or prognostic of ACS; a study of coorte with 168 carrying patients was carried through of SCD. During all the year of 2006, 168 patients with SCD had been studied, had predominance of
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Reed, Caroline. "Increasing Hydroxyurea Adherence for Pediatric Patients With Sickle Cell Anemia." Thesis, Walden University, 2016. http://pqdtopen.proquest.com/#viewpdf?dispub=10141603.

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<p> Sickle cell disease is a disabling chronic autosomal recessive blood disease characterized by abnormal hemoglobin, pain crises, and frequent emergency department visits. Adherence to hydroxyurea therapy has been shown to improve these patient outcomes. Guided by the theory of comfort, the purpose of this project was to determine if an educational intervention would increase adherence to hydroxyurea therapy in pediatric patients between 2 and 17 years of age recruited from an urban university hospital hematology clinic. The RE-AIM model was used to support the translation of evidence and th
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8

Sébert, Marie. "Génétique et évolution clonale des syndromes d’insuffisance médullaire." Thesis, Sorbonne Paris Cité, 2018. http://www.theses.fr/2018USPCC271.

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Les syndromes d’insuffisance médullaire sont liés à des mutations constitutionnelles à l’origine d’une hématopoïèse déficiente chez les patients atteints. Ils représentent un groupe hétérogène de maladies syndromiques, et impliquent plusieurs familles de gènes avec des mécanismes biologiques différents conduisant à l’insuffisance médullaire. Ces maladies prédisposent à une évolution clonale somatique, avec un risque accru de développer un syndrome myélodysplasique (SMD) ou une leucémie aigüe myéloïde (LAM) au cours du temps. Nous avons séquencé et analysé l’exome d’ADN fibroblastique d’une coh
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Гужва, Н. Ю. "Актуальні питання анемічного синдрому у хворих на ревматоїдний артрит фертильного віку". Thesis, Сумський державний університет, 2014. http://essuir.sumdu.edu.ua/handle/123456789/35688.

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Анемічний синдром відноситься до тих позасуглобових проявів РА, які впливають на ефективність лікування, якість та тривалість життя пацієнтів. РА відноситься до захворювань, які негативно впливають на фертильність. Анемія, що спостерігається у хворих на РА, має дві причини. Перша - алізодефіцитна анемія (ЗДА), що розвиваеться переважно внаслідок прихованих кровотеч з травного тракту, що ушкоджується агресивними лікувальними засобами; друга – анемія хронічного захворювання, або ж цитокінмедійована анемія (ЦМА), яка розвивається внаслідок гіперпродукції проанемічних цитокінів (ФНП-α, інтерлейкін
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Meroño, Dueñas Oona. "Comorbilidades en los pacientes con síndrome coronario agudo: nuevas evidencias de la anemia nosocomial y del déficit de hierro." Doctoral thesis, Universitat Autònoma de Barcelona, 2017. http://hdl.handle.net/10803/457624.

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El síndrome coronario agudo (SCA) es la principal complicación de la cardiopatía isquémica y se produce como consecuencia de la inestabilización de las placas de aterosclerosis de las arterias coronarias. Se sabe que la inflamación juega un papel importante en todas las fases de la enfermedad aterosclerosa; en el inicio de la formación de la placa, en la progresión de la misma y es máxima en el momento de inestabilización y aparición del SCA. Los objetivos de esta tesis son analizar el papel e implicaciones clínicas de la anemia adquirida intrahospitalariamente y del déficit de hierro (DH)
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Cintra, Luciana. "Estudo clínico, laboratorial e anatomopatológico dos órgãos linfohematopoiéticos na síndrome de emagrecimento progressivo dos calitriquídeos mantidos em cativeiro." Universidade de São Paulo, 2010. http://www.teses.usp.br/teses/disponiveis/10/10133/tde-08102012-175632/.

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A síndrome de emagrecimento progressivo (SEP) é responsável por elevada morbidade e mortalidade de calitriquídeos mantidos em cativeiro em diferentes instituições. Essa síndrome representa um desafio aos médicos veterinários por suas características ainda pouco esclarecidas e são poucos os estudos multidisciplinares que visam à avaliação dos diferentes sistemas, como os órgãos linfo-hematopoiéticos. O objetivo foi caracterizar a evolução e duração da SEP, associando os dados clínicos, laboratoriais e anatomopatológicos dos órgãos linfo-hematopoiéticos de saguis naturalmente acometidos por SEP
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12

Castro, Luísa Rihl. "Estado nutricional em pacientes HIV positivos anêmicos atendidos no Hospital de Clínicas de Porto Alegre." reponame:Biblioteca Digital de Teses e Dissertações da UFRGS, 2003. http://hdl.handle.net/10183/15461.

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Realizou-se um estudo descritivo conduzido no Hospital de Clínicas de Porto Alegre, no período de outubro de 2001 a outubro de 2002, com pacientes HIV positivos e anêmicos. Objetivo: avaliar a associação entre anemia e o perfil nutricional em uma amostra de pacientes HIV+ . Métodos: Foram incluídos 34 pacientes maiores de 18 anos, sendo todos pacientes diagnosticados com anemia. Foram analisados exames laboratoriais, avaliação da ingestão alimentar (recordatório alimentar de 24h), freqüência alimentar e coleta dos parâmetros antropométricos dos pacientes. Resultados: O recordatório alimentar d
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13

Lévy, Eva. "Identification de causes génétiques du syndrome d’Evans pédiatrique." Thesis, Sorbonne Paris Cité, 2016. http://www.theses.fr/2016USPCB017/document.

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Le syndrome d'Evans est défini par l'existence concomitante ou séquentielle de cytopénies auto-immunes, le plus souvent, anémie hémolytique et thrombopénie immunologique. Chez l'enfant, il peut être secondaire à une infection, une maladie auto-immune systémique ou un déficit immunitaire primitif. Alternativement, chez une grande partie des patients, l'étiologie n'est pas clairement identifiée. Les patients atteints de syndrome d'Evans présentent parfois d'autres atteintes, telles une auto-immunité d'organe, une lymphoprolifération bénigne ou un déficit immunitaire. L'objectif de ce travail éta
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14

Sangoi, Manuela Borges. "AVALIAÇÃO DO POTENCIAL PROGNÓSTICO DA ANEMIA E DO RDW NA ESTRATIFICAÇÃO DE RISCO EM PACIENTES COM SÍNDROME CORONARIANA AGUDA." Universidade Federal de Santa Maria, 2013. http://repositorio.ufsm.br/handle/1/5961.

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Conselho Nacional de Desenvolvimento Científico e Tecnológico<br>Ischemic heart diseases stands out among the diseases that affect the cardiovascular system due to its high prevalence and its impact on mortality in the general population. Ischemic heart disease is the leading worldwide cause of mortality. Fenomenum that also happens in the Americas and Brazil. The term acute coronary syndrome (ACS) is used to describe a heterogeneous spectrum of clinical conditions associated with acute myocardial ischemia, including unstable angina and acute myocardial infarction (AMI). The plurality in its c
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15

Marchesi, Raquel Ferrari. "Anemia aplástica adquirida - avaliação da biópsia de medula óssea na identificação de prognóstico desfavorável, aferido pela evolução para SMD/LMA: um estudo comparativo em crianças e adultos." Universidade de São Paulo, 2018. http://www.teses.usp.br/teses/disponiveis/5/5144/tde-08052018-121635/.

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Anemia aplástica adquirida (AAA) é doença rara e seu diagnóstico diferencial inclui a Síndrome mielodisplásica hipocelular (SMD-h). A evolução de AAA para SMD/LMA (Síndrome mielodisplásica/Leucemia mieloide aguda) ocorre em até 15% dos casos. Este estudo propõe-se a comparar parâmetros histológicos e imuno-histoquímicos de pacientes adultos e crianças com AAA que evoluíram e não para SMD/LMA. Seu objetivo é avaliar a ocorrência dos critérios morfológicos/imunofenotípicos nas biópsias de medula óssea do grupo pediátrico (<19 anos) com o grupo de adultos, comparar esses critérios associados à ev
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16

Glubochenko, O. V. "Anemic syndrome in patients with rheumatoid arthritis." Thesis, БДМУ, 2017. http://dspace.bsmu.edu.ua:8080/xmlui/handle/123456789/17095.

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17

Yan, Nicole. "Integrating point-of-care testing (POCT) for HIV, syphilis, malaria and anaemia into antenatal care services at dispensaries in western Kenya." Thesis, Liverpool School of Tropical Medicine, 2018. http://archive.lstmed.ac.uk/9471/.

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HIV, syphilis, malaria, and anaemia are major causes of adverse pregnancy outcomes in sub-Saharan Africa (SSA). Despite global and national policies advocating for screening of these conditions, only HIV testing has achieved good coverage, precluding early detection and appropriate management in pregnancy. Rapid pointof-care tests (POCTs) provide an opportunity to integrate diagnosis and provide timely treatment of these conditions in rural antenatal care (ANC) settings. After an introductory chapter, a review of the literature on these four conditions in pregnancy is presented with a focus on
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Antofiichuk, T. M. "Anemic syndrome in patients with steatogepatitis of different etiology." Thesis, БДМУ, 2020. http://dspace.bsmu.edu.ua:8080/xmlui/handle/123456789/18081.

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BAUZA, FRANCOISE. "Reflexions sur le hellp syndrome." Aix-Marseille 2, 1989. http://www.theses.fr/1989AIX20201.

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Paule, Inès. "Adaptation of dosing regimen of chemotherapies based on pharmacodynamic models." Phd thesis, Université Claude Bernard - Lyon I, 2011. http://tel.archives-ouvertes.fr/tel-00846454.

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There is high variability in response to cancer chemotherapies among patients. Its sources are diverse: genetic, physiologic, comorbidities, concomitant medications, environment, compliance, etc. As the therapeutic window of anticancer drugs is usually narrow, such variability may have serious consequences: severe (even life-threatening) toxicities or lack of therapeutic effect. Therefore, various approaches to individually tailor treatments and dosing regimens have been developed: a priori (based on genetic information, body size, drug elimination functions, etc.) and a posteriori (that is us
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Broséus, Julien. "Approche génomique des syndromes myéloprolifératifs et des lymphomes B-diffus à grandes cellules en rechute." Thesis, Université de Lorraine, 2016. http://www.theses.fr/2016LORR0140.

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L’outil génomique a considérablement modifié notre connaissance des hémopathies malignes, que ce soit sur le plan physiopathologique, diagnostique, pronostique ou thérapeutique. Dans la première partie de ce travail, nous avons travaillé sur une grande cohorte d’anémies réfractaires sidéroblastiques avec thrombocytose (ARS-T). Nous avons démontré qu’il s’agissait d’une entité indépendante, avec une présentation moléculaire particulière associant (i) des mutations de SF3B1 dans plus de 85% des cas, expliquant son versant myélodysplasique et (ii) des anomalies de JAK2 dans plus de 50% des cas, e
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LE, PANS NICOLE. "La maladie de pearson : un exemple de cytopathie mitochondriale ; a propos d'une observation personnelle et revue de la litterature." Rennes 1, 1992. http://www.theses.fr/1992REN1M057.

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Gonçalves, Claudia Estela 1970. "Estudo molecular do gene FANCA em pacientes com quadro clínico de Anemia de Fanconi." [s.n.], 2014. http://repositorio.unicamp.br/jspui/handle/REPOSIP/308602.

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Orientador: Carmen Sílvia Bertuzzo<br>Tese (doutorado) - Universidade Estadual de Campinas, Faculdade de Ciências Médicas<br>Made available in DSpace on 2018-08-27T12:57:33Z (GMT). No. of bitstreams: 1 Goncalves_ClaudiaEstela_D.pdf: 2258187 bytes, checksum: 7cac2852cc031e31eba1a31c62d9dda2 (MD5) Previous issue date: 2014<br>Resumo: A Anemia de Fanconi (AF) é uma alteração genética caracterizada por múltiplas anomalias congênitas, anormalidades hematológicas e predisposição a uma variedade de tumores. A incidência mundial da AF em todo o mundo é de aproximadamente três por milhão e a frequênc
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Froidefond, Claudine. "Syphilis congénitale : à propos d'une observation à IGM initialement négatives chez un enfant adopté, avec syndrome néphrotique, anémie pseudoleucémique, neuro-syphilis, atteinte hépatique et osseuse : mise au point sur les données de la littérature." Bordeaux 2, 1991. http://www.theses.fr/1991BOR2M106.

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DELCROIX, ISABELLE. "Syndromes myelodysplasiques avec grand exces de blastes medullaires : a propos de 119 patients." Lille 2, 1993. http://www.theses.fr/1993LIL2M135.

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Arrouasse, Raphaële Lévy Vincent. "Hématopoïèse extra-médullaire paravertébrale chez un sujet présentant une myélodysplasie revue de la littérature /." Créteil : Université Paris-Val-de-Marne, 2004. http://doxa.scd.univ-paris12.fr:80/theses/th0217213.pdf.

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Seigneurin, Daniel. "Cytologie quantitative de la maturation granulocytaire dans la moelle normale et au cours des syndromes myélodysplasiques." Grenoble 1, 1987. http://www.theses.fr/1987GRE10112.

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Poret, Arnaud. "Modélisation qualitative des réseaux biologiques pour l'innovation thérapeutique." Thesis, Lyon 1, 2015. http://www.theses.fr/2015LYO10090/document.

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Cette thèse est consacrée à la modélisation qualitative des réseaux biologiques pour l'innovation thérapeutique. Elle étudie comment utiliser les réseaux Booléens, et comment les améliorer, afin d'identifier des cibles thérapeutiques au moyen d'approches in silico. Elle se compose de deux travaux : i) un algorithme exploitant les attracteurs des réseaux Booléens pour l'identification in silico de cibles dans des modèles Booléens de réseaux biologiques pathologiquement perturbés, et ii) une amélioration des réseaux Booléens dans leur capacité à modéliser la dynamique des réseaux biologiques grâ
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Curutchet, Marie-Laure. "Anémie réfractaire sidéroblastique révélant une cytopathie mitochondriale : à propos de 6 observations." Paris 5, 1995. http://www.theses.fr/1995PA05P168.

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Duda, Naila Cristina Blatt. "Anormalidades hematológicas, bioquimicas e hemostáticas de origem paraneoplásica em fêmeas caninas com neoplasia mamária." reponame:Biblioteca Digital de Teses e Dissertações da UFRGS, 2014. http://hdl.handle.net/10183/96929.

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As anormalidades hematológicas de origem paraneoplásica são identificadas em diversos tipos de neoplasias que acometem cães e gatos. Nas neoplasias mamárias em cadelas, já foram identificadas anormalidades relacionadas com a coagulação, onde verificou-se que a coagulação intravascular disseminada (CID) clínica e subclínica pode estar presente em 83% das cadelas com carcinoma mamário. Na medicina humana, é dada relevância à investigação de tais alterações uma vez que são fatores indicadores de prognóstico do câncer. Enquanto isso, na medicina veterinária, são escassos os estudos que relacionam
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Besseau, Cyril. "Aspects physiopathologiques et moléculaires des causes gastriques de la malabsorption en vitamine B12." Thesis, Nancy 1, 2011. http://www.theses.fr/2011NAN10126.

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-- Thèse fournie sans page de titre --Afin de mieux comprendre la physiopathologie des causes gastriques de malabsorption de la vitamine B12, nous nous sommes intéressés au déficit congénital en facteur intrinsèque, une maladie rare caractérisée par une diminution de la sécrétion de facteur intrinsèque (FI) fonctionnel dans le suc gastrique. Dans cette étude, nous rapportons cinq cas porteurs hétérozygotes du variant GIF c.290T&gt;C (p.M97T) et deux cas porteurs hétérozygotes du variant GIF c.435_437delGAA (p.K145_N146delinsN). L'étude fonctionnelle des FI recombinants mutés produits par mutag
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Robu, Carmen Mariana. "Study of marrow microenvironment and focal adherences in myelodysplastic syndromes and leukemias." Phd thesis, Université Jean Monnet - Saint-Etienne, 2012. http://tel.archives-ouvertes.fr/tel-00955168.

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Myelodysplastic syndromes (MDS) are regarded as clonal disorders of haematopoietic stem cells (HSC). Recent evidence demonstrates that stromal microenvironment, in addition to HSC defects, plays a particular role via its direct contact with haematopoietic precursor cells (HPC). This thesis aims at evaluating the putative growth deficiencies of mesenchymal stromal cells (MSC) from MDS individuals compared with normal controls, exploring their adhesion profile, assessing the adhesion process-involved molecular substrates, and establishing correlations with their growth patterns and HPC dysfuncti
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Fresta, Leonardo. "La sindrome del sopravvissuto. Traumi, associazionismo, memorie dei lager nazisti nell’Italia repubblicana." Doctoral thesis, Urbino, 2022. http://hdl.handle.net/11576/2699819.

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岩崎, 卓識, and Takashi Iwasaki. "The combination of karyotype analysis, HbF and p53 immunostaining is useful for the differential diagnosis between refractory anemia and aplastic anemia." Thesis, 2008. http://hdl.handle.net/2237/10682.

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Ching-Yi, Lin. "Maternal anemia and the false positive rate of maternal serum screening for Down syndrome." 2005. http://www.cetd.com.tw/ec/thesisdetail.aspx?etdun=U0001-1907200517293800.

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Lin, Ching-Yi, and 林靜儀. "Maternal anemia and the false positive rate of maternal serum screening for Down syndrome." Thesis, 2005. http://ndltd.ncl.edu.tw/handle/60742176257289717397.

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碩士<br>國立臺灣大學<br>分子醫學研究所<br>93<br>Objectives: The aim of this study is to examine the relation between maternal anemia and the results of second trimester maternal serum screening for Down syndrome. Subjects and Methods: This descriptive study included singleton pregnant women’s prenatal examination data in Chung-Shan Medical University Hospital Prenatal Care Clinic from September 2001 to December 2004. The second trimester maternal serum free β-human chorionic gonadotropin (hCG) levels and α-fetoprotein levels (MSAFP) multiples of the median (MoM) values in anemia pregnancies group were compar
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Feben, Candice. "Phenotypic consequences in black South African Fanconi anaemia patients homozygous for a FANCG 637-643 deletion mutation." Thesis, 2012.

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A research report submitted to the Faculty of Health Sciences, University of the Witwatersrand, Johannesburg in partial fulfillment of the requirements for the degree of Master of Medicine in the Branch of Medical Genetic. Johannesburg, South Africa, 2012<br>Fanconi anaemia (FA) is a genotypically and phenotypically heterogeneous genetic condition , characterized microscopically by chromosomal breakage and instability and usually inherited in an autosomal recessive manner. Affected individuals often present with a diverse variety of physical congenital abnormalities and most progress to haema
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Galvão, Joana Rita Pinto. "Twin anemia polycythemia sequence - What do we know about it?" Master's thesis, 2019. http://hdl.handle.net/10316/90018.

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Trabalho Final do Mestrado Integrado em Medicina apresentado à Faculdade de Medicina<br>Resumo/AbstractTítulo: Sequência Anemia-Policitemia em Gémeos: o que sabemos sobre isto?Autores: Galvão, J(1), Silva, I.S.(1,2), Barros, S.(1,2)Afiliações: 1-Faculdade de Medicina da Universidade de Coimbra; 2-UGI Saúde Materno-fetal, Centro Hospitalar e Universitário de CoimbraIntrodução: Gémeos monocoriónicos partilham a mesma placenta, e como anastomoses vasculares ligam a circulação de sangue dos dois fetos, uma distribuição desigual de sangue entre os gémeos pode ocorrer. A patologia mais conhecida des
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