Proefschrift - Amsterdam. / "Geraadpleegde literatuur": p. [90]-91.

Capes / A presente pesquisa teve como objetivo desenvolver um estudo qualitativo para verificar a relação entre a tecnologia e os saberes ancestrais tradicionais no Candomblé, em três nações de diferentes terreiros. As nações são as seguintes: Ketu, Jêje e Bantu. O terreiro Ketu localiza-se na cidade de Salvador; o terreiro Jêje localiza-se no recôncavo baiano, na cidade de Cachoeira; e o terceiro terreiro, Bantu, localiza-se na cidade de São José dos Pinhais, região metropolitana de Curitiba-PR, este sendo um terreiro rural. A proposta deste estudo nestes três terreiros é constatar a relação entre o Candomblé e a internet considerando analisar como se articula essa religião que se refere à natureza e aos valores e saberes ancestrais frente aos avanços tecnológicos. A metodologia se constituiu em analisar entrevistas realizadas com sacerdotisas e sacerdotes, bem como representantes religiosos das três nações pesquisadas. Outro foco desse trabalho foi analisar os impactos da urbanização e da perda de territorialidade, e a importância da preservação da linguagem e a oralidade nos terreiros de Candomblé e ao mesmo tempo da ancestralidade e a hierarquia nas tradições das religiões de matriz africana na África e na diáspora. A análise foi constantemente articulada com uma discussão sobre as mudanças ocorridas na legislação brasileira no que se refere aos direitos das religiões de matriz africana, considerando que essas religiões foram historicamente discriminadas, associadas ao primitivismo e à barbárie. A importância deste trabalho consiste em trazer à tona uma discussão permanente e necessária sobre intolerância religiosa e “estado laico”. / This research intend to develop a qualitative study to investigate the relationship between technology and traditional knowledge in traditional Candomblé in three terraces of different nations. The following nations are: Ketu, Jêje and Bantu. The yard Ketu is located in the city of Salvador, the yard Jêje recôncavo located in Bahia, in Cachoeira and the third yard, Bantu, located in the city of St. Joseph of the Pines, metropolitan region of Curitiba-PR, this being one rural yard. The purpose of this study these three terraces is observed the relationship between the internet and Candomblé considering analyze how religion articulates this relation to nature and to the values and ancestral knowledge forward to technological advances. The methodology consisted in analyzing interviews with priestesses and priests and religious representatives of the three nations surveyed. Another focus of this work was to analyze the impacts of urbanization and loss of territoriality, and the importance of preserving the language and orality in the yards of Candomblé while the ancestry and hierarchy in the traditions of African religions in Africa and in the diaspora. The analysis has been constantly linked with a discussion of the changes in Brazilian law regarding the rights of religions of African, considering that these religions were historically discriminated associated with primitivism and barbarism. The importance of this work is to bring to the fore a permanent and necessary discussion about religious intolerance and "secular state".

Capes / A presente pesquisa teve como objetivo desenvolver um estudo qualitativo para verificar a relação entre a tecnologia e os saberes ancestrais tradicionais no Candomblé, em três nações de diferentes terreiros. As nações são as seguintes: Ketu, Jêje e Bantu. O terreiro Ketu localiza-se na cidade de Salvador; o terreiro Jêje localiza-se no recôncavo baiano, na cidade de Cachoeira; e o terceiro terreiro, Bantu, localiza-se na cidade de São José dos Pinhais, região metropolitana de Curitiba-PR, este sendo um terreiro rural. A proposta deste estudo nestes três terreiros é constatar a relação entre o Candomblé e a internet considerando analisar como se articula essa religião que se refere à natureza e aos valores e saberes ancestrais frente aos avanços tecnológicos. A metodologia se constituiu em analisar entrevistas realizadas com sacerdotisas e sacerdotes, bem como representantes religiosos das três nações pesquisadas. Outro foco desse trabalho foi analisar os impactos da urbanização e da perda de territorialidade, e a importância da preservação da linguagem e a oralidade nos terreiros de Candomblé e ao mesmo tempo da ancestralidade e a hierarquia nas tradições das religiões de matriz africana na África e na diáspora. A análise foi constantemente articulada com uma discussão sobre as mudanças ocorridas na legislação brasileira no que se refere aos direitos das religiões de matriz africana, considerando que essas religiões foram historicamente discriminadas, associadas ao primitivismo e à barbárie. A importância deste trabalho consiste em trazer à tona uma discussão permanente e necessária sobre intolerância religiosa e “estado laico”. / This research intend to develop a qualitative study to investigate the relationship between technology and traditional knowledge in traditional Candomblé in three terraces of different nations. The following nations are: Ketu, Jêje and Bantu. The yard Ketu is located in the city of Salvador, the yard Jêje recôncavo located in Bahia, in Cachoeira and the third yard, Bantu, located in the city of St. Joseph of the Pines, metropolitan region of Curitiba-PR, this being one rural yard. The purpose of this study these three terraces is observed the relationship between the internet and Candomblé considering analyze how religion articulates this relation to nature and to the values and ancestral knowledge forward to technological advances. The methodology consisted in analyzing interviews with priestesses and priests and religious representatives of the three nations surveyed. Another focus of this work was to analyze the impacts of urbanization and loss of territoriality, and the importance of preserving the language and orality in the yards of Candomblé while the ancestry and hierarchy in the traditions of African religions in Africa and in the diaspora. The analysis has been constantly linked with a discussion of the changes in Brazilian law regarding the rights of religions of African, considering that these religions were historically discriminated associated with primitivism and barbarism. The importance of this work is to bring to the fore a permanent and necessary discussion about religious intolerance and "secular state".

A fissura labiopalatina (FL/P) é uma das malformações craniofaciais mais comuns em humanos, com variação epidemiológica nas diferentes populações. Possui diferentes apresentações clínicas, divergindo de acordo com a extensão e estruturas acometidas, podendo acometer somente o lábio ou lábio e palato em conjunto, uni ou bilateralmente, de maneira completa ou incompleta ou apenas o palato (FP) tanto completa como incompletamente. Podem fazer parte de um quadro sindrômico, recebendo a denominação de FL/P sindrômica ou acontecer como um fenótipo isolado, sendo chamada de FL/P isolada ou não sindrômica. Em relação a etiologia da FL/P não sindrômica, a literatura afirma ser multifatorial com a predisposição genética associada a fatores ambientais. Apesar de se apresentarem frequentemente associadas, a FL/P e FP não sindrômicas são consideradas etiologicamente e embriologicamente distintas. Objetivo: Aprofundar e ampliar o conhecimento das FP isoladas não sindrômicas, descrevendo o fenótipo principal (FP isolada) e seus subfenótipos clínicos, investigando o fator genético relacionado à recorrência por meio do histórico familial e buscando elucidar possível fatores ambientais envolvidos por meio do histórico gestacional. Material e métodos: Foram coletados dados de 165 prontuários médicos de pacientes com FP isolada não sindrômica matriculados no Hospital de Reabilitação de Anomalias Craniofaciais da Universidade de São Paulo (HRAC-USP). Para a coleta desses dados foram analisados segmentos do prontuário referentes a atendimentos realizados no HRACUSP em diferentes setores. Resultados: Em 165 pacientes estudados, o sexo feminino foi o mais acometido com 106 casos (64,24%) encontrados. O tipo de FP predominante foi a incompleta correspondendo a 88,48% da amostra total, sendo dentre elas a fissura de palato duro parcial a mais prevalente. Em cinco casos não foi possível realizar a classificação nos grupos referentes ao tipo de fissura adotados, sendo necessária a criação de um grupo de classificação adicional. Recorrência familial positiva foi relatada em 28,47% de 144 casos em que havia informação, e na maioria das vezes havia apenas 1 outro familiar acometido. A média da idade das mães e dos pais no momento da concepção foi de 26,9 e 31,4 anos, respectivamente. A porcentagem de abortos anteriores foi de 11,95% dos 92 casos informados e a consanguinidade foi de 3,29% dos 91 casos informados. A intercorrência mais frequentemente relatada (25 em 154 casos informados) foi o uso de medicamentos, tais como, antibióticos, anti-hipertensivos e medicamentos que auxiliam na prevenção do parto prematuro. Conclusão: O fenótipo FP isolada possui variações quanto à extensão de cometimento, sendo que as fissuras incompletas foram as mais frequentes e o sexo feminino predominantemente acometido. Em relação ao histórico familial e gestacional os dados que mais chamaram atenção estão relacionados ao percentual de recorrência familial (28,47%) e o uso de medicação durante a gestação. / Cleft lip and palate (CL/P) is one of the most common craniofacial malformations in humans, with epidemiological variation in different populations. It has different clinical presentations that diverge according to the extension and affected structures, and may either affect the lip or lip and palate together, unilaterally or bilaterally, in a complete or incomplete way or just affect the palate (CP) completely or incompletely. CL/P can either be related to a syndrome, classified as syndromic CL/P or unrelated to a syndrome, occurring as an isolated phenotype, designated as isolated or nonsyndromic CL/P. Regarding the etiology of nonsyndromic CL/P, research indicates multifactorial causes with a genetic predisposition associated with environmental factors. Although it is often present in association, nonsyndromic CL/P and CP are considered embryologically and etiologically distinct. Objective: To deepen and broaden the knowledge of individual nonsyndromic CP, describing the main phenotype (isolated CP) and its clinical subphenotypes, investigating the genetic factors related to recurrence through family history and to elucidate possible environmental factors involving gestational history. Material and Methods: Data were collected from 165 medical patients records with isolated nonsyndromic CP enrolled at the Hospital de Reabilitação de Anomalias Craniofaciais da Universidade de São Paulo (HRAC-USP). For data collection, segments of the records pertaining to care provided by HRAC-USP in different sectors were analyzed. Results: In the 165 patients studied, females were the most affected with 106 cases (64.24%) found. The predominant type of CP was incomplete corresponding to 88.48% of the total sample, and among these incomplete CP, the clefts involving partial hard palate were the most prevalent. In five cases it was impossible to classify the type of cleft, and the creation of an additional classification group was required. Positive familial recurrence was reported in 28.47% of 144 cases where information was available and in most cases there was only one other affected family member. The average age of mothers and fathers at conception was 26.9 and 31.4 years respectively. The percentage of previous miscarriages was 11.95% of the 92 reported cases and consanguineous marriage was found in 3.29% of the 91 reported cases. The most frequently reported complication (25 in 154 reported cases) was the use of drugs such as antibiotics, antihypertensives drugs, and drugs used to prevent premature birth. Conclusion: The phenotype Isolated CP presents variations in the extent of involvement, and incomplete clefts were the most frequent, with females predominantly affected. Regarding family history and gestational data what calls more attention were the percentage of familial recurrence (28.47%) and the use of medication during pregnancy.

Abstract The aim of the study was to describe the counselling of haemophiliacs and their families carried out by health care personnel and to chart health care personnel's counselling competence. Professional competence refers to the knowledge, skills, capabilities and attitudes required in practice.The study was carried out in two phases. The goal of the first phase was to generate information about the professional counselling carried out as well as to estimate the counselling competence of the health care personnel. The goal of the second phase was to generate information about the health care personnel's counselling competence in order to develop professional education and the care and rehabilitation of haemophiliacs. In the study, health care personnel consisted of bioanalysts, physical therapists, doctors, radiographers and nurses. The method used in the study was methodological triangulation. The first phase consisted of observing (n = 10) patient and family counselling and interviewing the patients (n = 10), families (n = 7) and health care personnel (n = 7) participating in the study. The data were analysed by content analysis. In the second phase a questionnaire to the health care personnel (n = 318) working in specialised care in the Departments of Internal Medicine and Paediatrics was carried out using a Haemophilia scale (HFS) developed to estimate professional counselling competence. The data were analysed by using SPSS 11.5 statistical software by looking at descriptive statistics, correlation coefficients and other statistical methods. Concept validity and the structure of the scale were looked at by using explorative factor analysis. The study shows that the counselling of haemophilia patients consisted of securing home treatment and encouraging a normal way of life. Family counselling meant support for facing the changes in life, accepting responsibility and adapting to the present life situation. Considering all the answers (n = 304), 3% were correct regarding the disease and its care, 1% regarding responsibility and decision-making, 27% regarding trust and support, 26% regarding intellectual attitudes and 11% regarding the limitations of exercise. Sixty percent of the respondents would leave the haemophiliac patient completely without pharmaceutical treatment, while 49% were aware of using intravenous coagulation treatment in order to stop the bleeding. The health care personnel's knowledge of counselling and haemophilia and its treatment was insufficient. The needs and learning abilities of the person being counselled were not always taken into account, and to give psychosocial support was delegated to other professionals. Accepting responsibility for the treatment and deciding upon social support was inconsistent. Counselling related to being a carrier of haemophilia was slight. Sixty-six percent of the health care personnel considered their professional counselling capabilities as being insufficient to counsel haemophiliacs and their families. Based on the results, attention should be paid to the basic education of health care personnel, and enough supplementary education on both haemophilia and counselling should be offered. Information on haemophilia should be increased to reduce prejudices. Cost-effectiveness and standard procedures for compensation should be focused on. The counselling of haemophiliacs and their families should be developed and centralized nationally in order to enable the development of expertise. The results benefit education as well as the development of nursing care of other rare and hereditary diseases. / Tiivistelmä Tutkimuksen tarkoituksena oli kuvata terveydenhuoltohenkilöstön toteuttamaa ohjausta hemofiliaa sairastaville ja heidän perheillensä ja selvittää terveydenhuoltohenkilöstön ohjausvalmiuksia siihen. Valmiuksilla tarkoitetaan ammatin harjoittamisen edellyttämiä tietoja, taitoja, kykyjä ja asenteita.Tutkimus toteutettiin kaksivaiheisena. Ensimmäisen vaiheen tavoitteena oli tuottaa tietoa toteutetusta ohjauksesta ja mittari terveydenhuoltohenkilöstön ohjausvalmiuksien mittaamiseksi. Toisen vaiheen tavoitteena oli tuottaa tietoa terveydenhuoltohenkilöstön ohjausvalmiuksista alan koulutuksen ja hemofiliaa sairastavien hoidon ja kuntoutuksen kehittämiseksi. Terveydenhuoltohenkilöstöllä tarkoitetaan bioanalyytikoita, fysioterapeutteja, lääkäreitä, röntgenhoitajia ja sairaanhoitajia. Lähestymistapana tutkimuksessa oli metodologinen triangulaatio. Ensimmäisessä vaiheessa havainnoitiin (n = 10) potilas- ja perheohjausta ja haastateltiin ohjaukseen osallistuneet potilaat (n = 10), perheet (n = 7) ja terveydenhuoltohenkilöstö (n = 7). Aineistot analysoitiin sisällön analyysillä. Toisessa vaiheessa toteutettiin kysely erikoissairaanhoidossa sisätautien ja lasten klinikoilla työskentelevälle terveydenhuoltohenkilöstölle (n = 318) ohjausvalmiuksien mittaamiseksi ensimmäisen vaiheen tulosten perusteella kehitetyllä Hemofiliaohjausmittarilla (HFM). Aineisto analysoitiin SPSS 11.5 tilasto-ohjelmalla. Analysoinnissa käytettiin tilastollisia tunnuslukuja, korrelaatiokertoimia ja muita tilastollisia menetelmiä. Käsitevaliditeettia ja mittarin rakennetta tarkasteltiin eksploratiivisen faktorianalyysin avulla. Hemofiliaa sairastavan ohjaus oli sisällöltään kotihoidon varmistamista ja normaaliin elämään kannustamista. Perheohjaus oli elämänmuutosten kohtaamisen, vastuun kantamisen ja elämäntilanteeseen sopeutumisen tukemista. Terveydenhuoltohenkilöstön tiedot ohjauksesta ja hemofiliasta sekä sen hoidosta olivat puutteelliset. Kaikista vastauksista (n = 304) tautiin ja hoitoon liittyviä oikeita vastauksia oli 3 %, vastuuseen ja päätöksentekoon 1 %, luottamukseen ja tukeen 27 %, tiedollisiin asenteisiin 26 % ja liikunnan rajoittamiseen 11 %. Ilman lääkehoitoa hemofiliaa sairastavan jättäisi 60 % terveydenhuoltohenkilöstöstä ja 49 % tiesi suonensisäisestä hyytymistekijähoidosta verenvuodon tyrehdyttämiseksi. Ohjattavan ja perheen tarpeita ja oppimiskykyä ei aina huomioitu ja psykososiaalisen tuen antaminen siirrettiin muille ammattilaisille. Vastuun kantaminen sekä yhteiskunnan tukimuodoista päättäminen oli ristiriitaista. Hemofilian kantajuuteen liittyvä ohjaus oli vähäistä. Terveydenhuoltohenkilöstöstä 66 % piti ohjaustaitojaan riittämättöminä hemofiliaa sairastavien ja heidän perheidensä ohjaamiseen. Tulosten perusteella terveydenhuoltohenkilöstön peruskoulutukseen tulisi kiinnittää huomiota ja tarjota riittävästi täydennyskoulutusta sekä hemofiliasta että ohjauksesta. Tiedotuksen lisääminen hemofiliasta ennakkoluulojen vähentämiseksi olisi tarpeen. Kustannustehokkuuteen ja yhtenäisiin Kelan korvauskäytäntöihin tulisi kiinnittää huomiota. Hemofiliaa sairastavien ja heidän perheidensä ohjausta tulisi kehittää ja keskittää koko valtakunnan tasolla ja mahdollistaa siten asiantuntijuuden kehittyminen. Tuloksia voidaan hyödyntää koulutuksessa ja myös muiden harvinaisten ja periytyvien sairauksien hoitotyön kehittämisessä.

Breast cancer is the most common cancer in South African women. Approximately 5¬10% of all breast cancer cases are due to an inherited predisposition, resulting from mutations in tumour suppressor genes. The BRCA1 gene on chromosome 17q is one such tumour suppressor gene, that when mutated confers an increased risk of breast/ovarian cancer in carriers. To date, more than 500 different BRCA 1 mutations have been reported worldwide. Some of these mutations are frequently reported and others occur commonly in certain population groups. These population-specific differences in mutations represent founder effects, whereby a single ancestral mutation accounts for the majority of breast cancer cases. This study was undertaken as the nature and frequency of BRCA1 mutations in South African breast/ovarian cancer families is unknown. Fifty-one breast/ovarian cancer families were screened for three commonly occurring mutations (185deIAG, 4184del4 and 5382insC) using polymerase chain reaction (PCR) and allele-specific oligonucleotide (ASO) hybridisation. The protein truncation test (PTT) was utilised to detect truncating mutations in the large exon 11, and the remaining coding exons were screened for mutations using exon-by-exon PCR single strand conformation polymorphism/heteroduplex analysis (SSCP/HA). Seven disease-causing mutations were identified in 15 families, consisting of five different frameshift mutations and two different nonsense mutations. Four Ashkenazi Jewish families were found to harbour the 185delAG mutation; the 5382insC mutation was identified in two Afrikaner families and one Ashkenazi Jewish family. Haplotype analysis revealed that the four Ashkenazi families share the common Ashkenazi Jewish haplotype, suggesting a common ancestor for these families. Similarly, the two Afrikaner families share the same haplotype as families of north and east European ancestry with the 5382insC mutation. The haplotype of the Ashkenazi Jewish family with this mutation was however different to the linked haplotype, indicating a recombination event or an independent mutation. Both these mutations are thought to have occurred in or before the medieval period. Furthermore, four Afrikaner families were found to carry the novel E881X nonsense mutation, which has not been previously described. Haplotype analysis of these families suggested that these patients share a common ancestor, and genealogic studies have identified the founding couple for this mutation, who both arrived in the Cape from France in the late 1600s. Four additional families were found to harbour BRCA1 mutations by SSCP/HA. Three of these mutations have not been previously reported - the S451X nonsense mutation (identified in a family of Scottish origin), the 1493delC mutation identified in an Afrikaner family, and the 4957insC mutation identified in an Indian family. The 448insA mutation was identified in a family of German origin, where the patient had cancer of the fallopian tubes. A number of different described polymorphisms and variants of unknown functional significance were also identified. This is the first study to show that BRCA1 is involved in South African breast/ovarian cancer families, to the extent that 29.4% (15/51) of families have BRCA1 mutations. Furthermore, minor founder effects in the Afrikaner population have been demonstrated. These results enable improved genetic counselling and clinical management of mutation positive families as well as subsequent testing of family members. / Dissertation (MSc (Human Genetics))--University of Pretoria, 2005. / Genetics / unrestricted

Orientador: Josineudson Augusto II de Vasconcelos Silva / Resumo: Os objetivos do estudo foram analisar os resultados de corridas de velocidade de cavalos Quarto de Milha (QM) no Brasil, priorizando discussões do padrão das corridas, diversidade genética, principais ancestrais, parâmetros e tendências genéticas das características derivadas da rentabilidade monetária, tempo final e velocidade. Os dados continham 23.482 registros de corridas de velocidade, pertencentes a 5.861 animais (42,2% machos) e um pedigree total de 11.425 cavalos. Foram avaliadas cinco distâncias 275, 301, 320, 365 e 402 metros (m), apresentaram 1.072, 6.579, 2.726, 5.682 e 7.423 registros, respectivamente. As alterações da diversidade genética dos animais, foram avaliadas por meio de 3 subpopulações em três décadas completas, de 1980 (sP80), 1990 (sP90) e 2000 (sP00), avaliando 84,5% dos dados totais. As características rentabilidade monetária aos dois anos de idade hípica (RM2), melhor tempo final (best time) e classe de tempo nas distância 301 e 402 m, (BT301, BT402, CT301 e CT402), foram utilizadas nas estimativas dos parâmetros genéticos. O início da carreira esportiva dos 5.861 cavalos indicou que 29,4% e 27,9% dos animais realizarem a sua 1ª corrida nas distâncias de 301 m e 402 m, respectivamente e, 75,2 % dos animais, iniciaram aos 2 anos de idade hípica. Na principal distancia (402 m) os animais machos, não reprodutores, que iniciaram as corridas aos 4 anos foram os mais rápidos e os que mais contribuíram para a evolução fenotípica das características tempo ... (Resumo completo, clicar acesso eletrônico abaixo) / Abstract: The aim of the study was to analyze the results of Quarter Horse (QM) speed racing in Brazil, prioritizing discussions of race pattern, genetic diversity, main ancestors, parameters and genetic trends of the characteristics derived from earning, final time and velocity. The data contained 23,482 sprint records, belonging to 5,861 animals (42.2% males) and a total pedigree of 11,425 horses. Five distances 275, 301, 320, 365 and 402 meters (m) were evaluated, with 1,072, 6,579, 2,726, 5,682 and 7,423 records, respectively. Changes in animal genetic diversity were evaluated by 3 subpopulations in three complete decades, from 1980 (sP80), 1990 (sP90) and 2000 (sP00), evaluating 84.5% of the total data. The characteristics monetary profitability at the age of two horse age (RM2), best time and distance class 301 and 402 m (BT301, BT402, CT301 and CT402) were used to estimate genetic parameters. The beginning of the career of the 5,861 horses indicated that 29.4% and 27.9% of the animals performed their first race in the distances of 301 m and 402 m, respectively, and 75.2% of the animals started at 2 years of age. horse riding. At the main distance (402 m), the non-breeding male animals that started the races at 4 years were the fastest and the ones that contributed the most to the phenotypic evolution of the final time and speed characteristics. Inbreeding and kinship coefficients were low, ranging from 0.49% to 1.60% and from 1.12% to 2.56%, respectively. The effective populatio... (Complete abstract click electronic access below) / Doutor

Epigenetics involves heritable changes in an individual’s traits resulting from variations in gene expression without alterations to the DNA sequence. In eukaryotes, genomic DNA is usually folded with histones into chromatin. Post-translational modifications (PTMs) on histones not only play crucial roles in regulating various biological processes, including gene expression, but also store the majority of epigenetic information. A fundamental question in this field is how cells transmit these PTMs to their progeny. Before I began my thesis research, a well-established dogma in the field was that parental histones containing PTMs are symmetrically distributed to daughter DNA strands during DNA replication. These modified histones serve as templates for PTM duplication, thereby restoring the original chromatin states on both daughter strands. Several histone chaperones have been identified as regulators of parental histone segregation. However, their impact on epigenetic inheritance is controversial, which I reasoned is due to the lack of proper systems to examine epigenetic inheritance. This prompted me to use the unique characteristics of fission yeast heterochromatin as a model of epigenetic inheritance. In this organism, heterochromatin formation involves two distinct steps: establishment and inheritance. Reporter systems have been established to allow precise examination of heterochromatin inheritance. However, parental histone segregation pathways have not been characterized in this organism, and their impact on heterochromatin inheritance is unknown. My thesis work investigates the role of parental histone chaperones in regulating parental histone segregation and epigenetic inheritance in fission yeast. It comprises 5 chapters: Chapter 1 introduces epigenetics, with a focus on chromatin-based epigenetic inheritance. It also highlights the unique features of fission yeast heterochromatin that make it an excellent model for studying epigenetic inheritance.Chapter 2 is the focus of my thesis work. I employed inheritance-specific reporters in fission yeast to investigate the roles of three parental histone chaperones on epigenetic inheritance. In addition, in collaboration with Dr. Zhiguo Zhang’s lab, I adapted the Enrichment and Sequencing of Protein-Associated Nascent DNA (eSPAN) method, a recently developed technique designed to quantify the bias of specific proteins at replication forks, to examine parental histone segregation in fission yeast. My analyses demonstrated a critical role for parental histone segregation in epigenetic inheritance. Moreover, I discovered that both the symmetric segregation of parental histones and their density on daughter strands are critical for this process. Chapter 3 uncovers a novel function of a DNA replication protein Mrc1 in regulating epigenetic inheritance, distinct from its established roles in DNA replication checkpoint activation and replication speed control. I demonstrated the critical role of Mrc1 in regulating the symmetrical transfer of parental histone and the proper inheritance of heterochromatin. These results provide essential mechanistic insights into the function of Mrc1. Chapter 4 explores the function of an additional DNA replication protein and histone chaperone, Swi7 (Pol alpha). I have found that mutations in Swi7 lead to defects in parental histone segregation and heterochromatin inheritance, laying a strong foundation to further investigate its mechanism of action. Chapter 5 discusses potential future research directions that can build upon my thesis work.In conclusion, my thesis represents a thorough examination of parental histone chaperones in regulating epigenetic inheritance in fission yeast. By combining innovative genetic assays and advanced methodologies such as eSPAN, I have provided critical insights into the molecular mechanisms of epigenetic inheritance. In addition, the assays that I have developed during my thesis work also pave the way for future studies aimed at elucidating the mechanism of epigenetic inheritance in this important model organism.

Eugenic discourse is apparent in the work of many writers in the early 20th century, but is especially explicit in D.H. Lawrence's novel, Lady Chatterley's Lover, as well as his private letters. A close reading of these works illustrates Lawrence's attempts to grapple with his advocacy of eugenic.

Cette étude vise à comprendre le rôle de l’histoire dans la philosophie de Nietzsche et à faire ressortir son lien étroit avec l’articulation du corps vivant comme fil conducteur philosophique. Notre objectif principal est de montrer comment cette philosophie aphoristique a su maintenir les préoccupations historiographiques de jeunesse en permutant leur sens à l’aune de la pulsionnalité interprétative du corps. Prenant notre départ des considérations critiques écrites lors de son professorat à Bâle, nous démontrons que le sens historique se manifeste alors comme une sensibilité historique déterminée par une saisie intuitive, mais existentiellement difficile, du passé. Nous procédons ensuite à décrire comment le renouveau philosophique de sa période intermédiaire peut être vu comme une réduction pathologique de l’histoire de la métaphysique qui emprunte ses éléments critiques au scepticisme de Michel de Montaigne, à l’évolutionnisme naissant et au développement du néo-kantisme. Cette réduction, qui ramène l’expression des valeurs morales et métaphysiques au corps vécu (Leib). Par sa déconstruction de la subjectivité au profit d’une réalité pulsionnelle primordiale, mais irréductible, nous démontrons ensuite comment Nietzsche a su réinterpréter l’hérédité biologique comme une mémoire physiologique incorporée dont l’expression première est la reconduction de la notion d’espèce à celle de type. Enfin, par un retour à la sensibilité historique et notre analyse du phénomène historique en tant que tel, nous proposons de comprendre l’articulation ultime de la philosophie nietzschéenne comme une philosophie historique qui ne cherche pas à comprendre ou à expliquer le devenir, mais en opérer la synthèse par le truchement de « l’instant décisif ». / This study aims to understand the role played by history in Friedrich Nietzsche’s philosophy and its underappreciated relation to the introduction of the body (Leib) as its philosophical red-thread. Our main goal is to show how his philosophy was able to preserve the historiographical interests on his early period by transforming history’s importance in accordance with the body’s constitutive forces. Starting with his critical discussion of history during his professorship in Basel, we demonstrate how he understood the historical sense as a form of historical sensibility determined by an intuitive yet existentially demanding grasp of the past. We then describe the philosophical renewal of his middle period as a reduction of the history of metaphysics to pathological states that owes much to Michel de Montaigne’s skepticism, nascent evolutionary biology and the burgeoning neo-Kantian movement. By bringing moral and metaphysical values to determinate bodily states, Nietzsche introduces the body as philosophically significant. By a careful reading of contemporary science and its influence on Nietzsche’s thinking, we show how the deconstruction of human subjectivity into its primordial physiological existence culminates in a reinterpretation of biological heredity as a form of incarnate memory, which reduces the concept of biological species to that of morphological types. Finally, we return to our initial discussion of our historical sensibility in order to demonstrate how Nietzsche’s philosophy is through and through historical and seeks not to understand Becoming but to decisively synthesise and decide our historical destiny.