Academic literature on the topic 'Lamont family'
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Journal articles on the topic "Lamont family"
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Mullen, Stephen. "John Lamont of Benmore: A Highland Planter who Died ‘in harness’ in Trinidad." Northern Scotland 9, no. 1 (May 2018): 44–66. http://dx.doi.org/10.3366/nor.2018.0144.
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This article traces the rise of John Lamont, a Highland planter in nineteenth-century Trinidad. The island was subsumed into the British Empire in 1802, the third wave of colonization in the British West Indies and just thirty-two years before slavery was abolished. Many Scots travelled in search of wealth and this article reveals how one West India fortune was accumulated and repatriated to Scotland. John Lamont travelled from Argyll in the early 1800s, eventually becoming part of the Trinidad's plantocracy class and recipient of a major sum of compensation on the emancipation of slavery in 1834. Unlike many other Scots in the British West Indies, however, Lamont remained in situ in the post-emancipation period and was thus an exception to the sojourning mindset identified in previous studies. Lamont's status as an ‘every-day planter’ undoubtedly contributed to his major fortune which, despite his residency in the colonies, was dispersed in the lower Highlands of Scotland amongst his paternal family, the Lamonts of Knockdow. The article also surveys modern representations of John Lamont: a Highland planter who, in his own words, achieved his wish to die ‘in harness’ in Trinidad.
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Jentzsch, Hanno, and Alison Lamont. "Renegotiating Social Risks in the People's Republic of China and Japan Hanno Jentzsch and Alison Lamont." Pacific Affairs 93, no. 2 (June 1, 2020): 265–79. http://dx.doi.org/10.5509/2020932265.
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There have been various attempts to capture the direction of welfare provision in Japan and the People's Republic of China (PRC) as a regionally coherent welfare regime, following on from attempts by the welfare regime literature to categorize nation-states by the characteristics of their welfare provision in the West. However, stark differences between the PRC and Japan as regional neighbours, and even within the regions of each country, pose a challenge to this kind of macro-level theorizing. This special issue seeks to supplement macro perspectives on welfare regimes by exploring a range of welfare policies across both states from an ethnographic, bottom-up perspective, which captures the dynamic nature of welfare and highlights the importance of understanding how local actors request, interpret, and implement risk management strategies. The management of social risks is shown not to have one clear direction determined by, for example, market logic: instead, this special issue highlights the ways in which the burden of risk shifts between family, market, state, and communities unevenly over time, reflecting underlying institutional norms which are always up for negotiation. In doing so, this special issue emphasizes the importance of local, contextualized understandings of welfare, and suggests that the comparative welfare regimes literature should seek the micro-institutional foundations of welfare provision as the basis for comparison.
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Czaykowska-Higgins, Ewa. "Lushootseed Reader with Intermediate Grammar. Vol. 2: Four Stories from Martha Lamont. Thom HessThe Salish Language Family: Reconstructing Syntax. Paul D. Kroeber." International Journal of American Linguistics 68, no. 3 (July 2002): 371–74. http://dx.doi.org/10.1086/466495.
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Dow, L. A., T. J. Smith, R. Matsuyama, E. B. Lamont, V. Ramakrishnan, L. Kuhn, and L. Lyckholm. "Willingness of cancer patients to discuss advance directives with admitting doctor or oncologists." Journal of Clinical Oncology 27, no. 15_suppl (May 20, 2009): 9539. http://dx.doi.org/10.1200/jco.2009.27.15_suppl.9539.
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9539 Background: Many seriously ill cancer patients do not discuss prognosis or advance directives (ADs), which may lead to aggressive care at end of life (Harrison & Smith, JAMA 2008). Ten years ago, cancer patients did not want to discuss ADs with their oncologist (ONC), but would discuss them with an admitting doctor (Lamont JPM 2000).We assessed if this still held. Methods: We administered semi-structured interviews to cancer inpatients on the VCUHS Hematology-Oncology service. 55/63 consecutive patients accrued. Information was collected regarding ADs and knowledge of hospice/palliative care. Results: Of those enrolled, 22/55 (40%) reported having ADs. Only 2/55 had discussed ADs with their oncologist. Only 12/55 (22%) would want to discuss ADs with their ONC. But when specifically asked, 22/55 (40%) of patients would prefer to discuss ADs with their oncologist, and 40% with their primary care doctor. 86% would discuss ADs with the admitting doctor. There was no difference in doctor preference based upon prior AD completion. The preference not to discuss ADs with the oncologist was often because they felt their family could make the decisions, or that it was only necessary “If it got serious.” There was a common misconception that ADs mean death is imminent and lead to termination of care. Conclusions: Most patients (86%) are willing to discuss ADs with an admitting doctor, but only a small number (22%) want to discuss with their ONC. However, most patients will discuss ADs and 40% actually prefer their ONC if ADs are discussed. We therefore need to train primary care doctors, house staff, hospitalists, and oncologists to have these difficult discussions. [Table: see text] No significant financial relationships to disclose.
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Holmes, Jeremy. "Personal experience: Suicide and psychiatric care – a lament." BJPsych Bulletin 39, no. 1 (February 2015): 45–47. http://dx.doi.org/10.1192/pb.bp.113.046466.
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SummaryA personal bereavement from suicide prompts a critique of current mental healthcare. Fragmentation, lack of long-term attachment to a tenured professional, the dearth of family therapy, and professional ambivalence are identified as weaknesses in current provision. Implicit is the case for change in UK psychiatric services, both structural (need for long-term therapies) and cultural (need for a mentalising rather than protocol-driven, ‘choice’-led ethos).
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Kelly, Helena. "Matthew Lamert's Military Record: Clarifying the Lamert Family Origins." Dickens Quarterly 38, no. 3 (2021): 319–23. http://dx.doi.org/10.1353/dqt.2021.0030.
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Дронова, Татьяна Ивановна. "Regulation of Burial Practices and Funeral Laments of the Old Believers-Bespopovts of Ust-Tsilma." Tomsk Journal of Linguistics and Anthropology, no. 1(39) (June 30, 2023): 127–40. http://dx.doi.org/10.23951/2307-6119-2023-1-127-140.
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На примере локальной традиции нижнепечорских староверов-беспоповцев описываются особенности позднего бытования погребально-поминальных причитаний в Усть-Цилемском районе Республики Коми. В исследовании обращается внимание на достаточно позднее изучение причети фольклористами. Сбор причетов производился разными исследователями не систематически. Записи 1929 г. были опубликованы с комментарием лишь в 2013 г., еще одна крупная публикация текстов, собранных в 1942 г., относится к 1962 г. С разной степенью полноты причеты публиковались и в других сборниках. Преимущественно в XXI в. появляются и аналитические статьи. В настоящей статье причетная традиция рассматривается с позиции этнографического исследовательского похода, главное внимание обращается на функционирование жанра, место и роль причетов в погребально-поминальном обряде в конце XX – начале XXI в. Описываются факторы, способствовавшие приобщению причитальщиц к традиционной плачевой культуре. Приводится обрядовая терминология, устойчивые выражения, являющиеся наименованием плачей, свидетельствующие об их исполнении, а также лексика, представленная в плачах метафорическими заменами, эпитетами. Анализируется значение регулирования исполнения плачей относительно времени суток, а также рассматривается ограничение их исполнения по отдельным возрастным и социальным группам. Обращается внимание на локальную особенность исполнения плачей по усопшим, которые прижизненно проявляли неуважение к некоторым представителям семьи и являлись обидчиками, – посредством плача выражались недоброжелательные поступки и действия умершего человека. Статья написана на основе полевых материалов, собранных автором в разные годы в усть-цилемских селах и деревнях, на опубликованных материалах и архивных источниках, хранящихся в Научном архиве Коми НЦ УрО РАН. Using the local tradition of the Old Believers-Bespopovtsy of Nizhnepechora as an example, the characteristics of the late existence of burial and memorial laments in the Ust-Tsilemsky district of the Komi Republic are described. The study draws attention to the rather late research of baptism by folklorists. The collection of the reports was not carried out systematically by different researchers. The 1929 records were published with a commentary only in 2013 and another major publication of the texts collected in 1942 dates from 1962. The reports have been published in other collections with varying degrees of completeness. Particularly in the 21st century, there are also analytical articles. This article examines the liturgical tradition from the perspective of an ethnographic research campaign, focusing on the functioning of the genre, the place, and the role of eulogies in funeral and memorial rites at the end of the 20th and beginning of the 21st centuries. The factors contributing to eulogies' introduction into traditional funeral culture are described. The ritual terminology, the stable expressions that are the names of the laments and indicate their fulfillment, and the vocabulary represented in the laments by metaphorical substitutions and epithets are given. The importance of regulating the performance of lamentations in relation to the time of day is analyzed, and the restriction of their performance to certain ages and social groups is also considered. The local peculiarity of the performance of lament songs for the deceased, who showed disrespect to some family members during their lifetime and were abusers, through the lament songs, the unkind actions and deeds of the deceased person are shown. The article was written on the basis of field materials collected by the author in different years in the villages of Ust-Tsilma, as well as on the basis of published materials and archival sources kept in the scientific archive of the Komi Scientific Center of the Ural Branch of the Russian Academy of Sciences.
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Korbut, Ewa. "The Holy Family as a Model of the Spiritual Life in Bl. Bolesława Lament’s Teaching." Rocznik Teologii Katolickiej 19 (2020): 19–35. http://dx.doi.org/10.15290/rtk.2020.19.02.
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The Christian spiritual life, the essence of which is holiness, needs an example that sheds clear light on the path of love for God and neighbor. In her teachings, Bl. Bolesława Lament indicates that the example of the Holy Family of Nazareth’s life is especially helpful in for man’s spiritual development. The Holy Family’s example can help shape the spiritual life of believers according to the Incarnation. The essence of the Holy Family’s example is its deep focus on the mystery of Incarnation and, thus, union with Christ, the Incarnate Word. Moreover, the hidden life of Jesus, Mary, and Joseph provides a solid foundation on which apostolic life can take on form.
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Goswami, Dr Anita. "Gender and Racial Discrimination in Maya Angelou’s Caged Bird: A Lament on Slavery." International Journal of English Literature and Social Sciences 9, no. 3 (2024): 271–76. http://dx.doi.org/10.22161/ijels.93.34.
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The word “discrimination” is derived from the Latin word discriminate- meaning “to separate, to distinguish, to make a distinction.” In American English usage, discrimination often refers to prejudicial treatment of persons. Black feminism emerged as a challenge to the assumptions made by these white feminists regarding their prerogative to speak for all women in general. Black feminism insists that sexism and racism are imbricated in each other, the oppression of women cannot be understood and addressed without reference to racism. According to Claudia Jones, a Trinidad – born activist, “In the film, radio and press, the Negro woman is a not pictured in her real role as a bread winner, mother and protector of the family, but as a traditional ‘mammy’ who puts the care of children and families of others above her own. This traditional stereotype of the Negro slave mother, which to this day appears in commercial advertisements must be combated and rejected as a device of imperialist to perpetuate that white chaunvist ideology that Negro women are ‘backward and inferior.’ Now a days, there are so many poems which is written by using discrimination and segregation as the subject because of the condition which appears in the society. Besides, there are some women poets who write poems by using feminism touches. For example, the image of woman in the society, the position of women among the men, and the discriminations which occur in the women’s life.
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Seely, Clinton B. "James M. Wilce,Eloquence in trouble: The poetics and politics of complaint in rural Bangladesh. (Oxford studies in anthropological linguistics, 21). Oxford & New York: Oxford University Press, 1998. Pp. xix, 300. Hb $65.00." Language in Society 29, no. 3 (July 2000): 453–56. http://dx.doi.org/10.1017/s0047404500353040.
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This is a very personal book, a poignant book, a compelling book, from beginning to end. The Preface sets the tone: self-reflexive and confessional. Wilce once wanted to be a medical doctor; he became instead a missionary in Bangladesh, but felt “guilt and pervasive disquiet” in that role; and while in Bengal – actually, in neighboring Calcutta – he suffered a “nightmarish” family tragedy involving medical practitioners. He later resigned from the mission and went to graduate school; then he returned to Bangladesh to study complaint and lament as expressed in one locality within the Bangla-speaking area. (“Bangla” and “Bengali” are two names for the same language. Wilce refers to the language as Bangla; so shall I.)
Dissertations / Theses on the topic "Lamont family"
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Puzzi, Luca. "DNA-protein interaction dynamics at the Lamin B2 replication origin." Doctoral thesis, Scuola Normale Superiore, 2015. http://hdl.handle.net/11384/85959.
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The regulation of human DNA replication operates via a time-defined program of
activation and deactivation of approximately 30,000 replication origins distributed
along the genome. Due to the complexity of this process, each step requires a
sequence of cascade checkpoints and licensing events, most of which are well
conserved from yeasts to humans. A multi-protein complex assembles onto each
origin causing the local unwinding of the DNA double helix and the start of two
oppositely moving replicative forks. Despite the cis-acting elements necessary for
origin firing are almost elucidated, the mechanism that governs the selection of a
specific DNA sequence as human (and, more generally, metazoan) origin, in the
course of G1 phase of the cell cycle, is still poorly understood. The lack of DNA sequence
consensus between replication origins characterized so far, together with the
poor binding-specificity displayed by the Origin Recognition Complex, suggest that
origin selection might rather be determined by local chromatin structures and/or
trans-acting factors. With regard to the latter possibility, it was interesting to find out
that a DNA region specifically bound by the AP-1 proteins, is located close to the
start site of the human Lamin B2 replication origin.
In the study conducted during this Ph.D. program, the possible role of AP-1
transcription factors in origin specification was explored by investigating the
involvement the principal moieties of this protein family, c-Fos and c-Jun, within the
replicative complexes in living human cells. The data reported in this thesis provides
evidence that both c-Fos and c-Jun interact with the LaminB2 origin of DNA
replication and indeed participates in origin function. Participation of these proteins
to origin binding is consistent with their interaction with both ORC4 and HOXC13,
two members of the replicative complex, and is cell cycle defined, occurring before
origin firing. Furthermore the observations point to the existence of specific and dynamic structural reorganizations of the complexes assembled at the origin region
along with origin activation. In this view, AP-1 proteins could contribute to recruit
and stabilize the replicative complexes onto the LaminB2 origin, in presence of
specific chromatin and topological configurations.
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Hookana, E. (Eeva). "Characteristics of victims of non-ischemic sudden cardiac death." Doctoral thesis, Oulun yliopisto, 2012. http://urn.fi/urn:isbn:9789526200224.
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Abstract A non-ischemic etiology of sudden cardiac death (SCD), mostly due to various cardiomyopathies (CMP), accounts for about 20% of all SCDs. Most of the major studies of risk factors for SCD have focused on coronary artery disease (CAD). The aim of the present study was to clarify the characteristics of non-ischemic SCD in Northern Finland. In this study, consecutive victims of SCD (n=2661) were prospectively collected, and among whom post-mortem examinations were performed between 1998 and 2007. Information about the SCD victims was obtained from a combination of available medical records, postmortem examination reports, medication used at the time of SCD, and standardized questionnaire filled out by the closest family members of the victims of SCD. We also screened the candidate genes from a Finnish family in which fatal arrhythmias was first manifestation of a cardiac disease. The collagen content of the myocardium from histological samples in victims of SCD due to idiopathic myocardial fibrosis (IMF) was also evaluated. CAD was the most common cause of death (2082 victims, 78.2%). The prevalence of non-ischemic SCDs was 21.8% of all the SCDs. After sub-grouping the non-ischemic SCDs into various categories, the most common cause of death was CMP related to obesity (23.7%), followed by alcoholic CMP (19.0%), hypertensive CMP (15.5%) and IMF (13.6%). The association of SCD with IMF is notably frequent among victims <40 years old (28.3%). The prevalence of family history of SCD was significantly higher in the victims of ischemic (34.2%) than non-ischemic SCD (13.4%, P<0.001) or controls (17.6%, P<0.001). Lamin A/C gene mutation R541C was found from Finnish SCD family, in which the IMF was predominant pathologic-anatomic finding. Myocardial type I collagen synthesis was increased in victims of SCD due to IMF. In conclusion, the characteristics of non-ischemic SCD in Finland differ from those reported previously. Higher prevalences of CMP-associated SCDs related to obesity, IMF and alcoholic CMP were observed as clinical and/or pathologic bases for non-ischemic SCD. The family history of SCD is not significantly increased in victims of non-ischemic SCD, suggesting a larger role of sporadic occurrence than inherited traits as the cause of non-ischemic SCD. Replacement of cardiac myocytes by fibrosis can be responsible for fatal cardiac arrhythmias in subjects with the lamin A/C gene mutation. The victims of SCD due to IMF have increased myocardial type I collagen synthesisTiivistelmä Ei-iskeeminen sydänperäinen äkkikuolema aiheuttaa noin 20 % kaikista sydänperäisistä äkkikuolemista. Suurin osa ei-iskeemisistä sydänperäisistä äkkikuolemista johtuu erilaisista sydänlihassairauksista, kardiomyopatioista. Useimmat sydänperäisen äkkikuoleman riskitekijöitä kartoittavista tutkimuksista ovat keskittyneet sepelvaltimotautiin. Tämän tutkimuksen tarkoituksena oli selvittää ei-iskeemisen sydänperäisen äkkikuoleman tunnuspiirteitä pohjoissuomalaisessa väestössä. Tutkimuksessa käytettiin potilasaineistona sydänperäiseen äkkikuolemaan menehtyneitä vainajia (n=2661), joille on tehty oikeuslääketieteellinen ruumiinavaus. Tiedot vainajista saatiin saatavilla olevista potilaskertomuksista, ruumiinavauspöytäkirjoista, äkkikuoleman aikaisesta lääkityksestä ja lähiomaisille lähetetystä standardisoidusta kyselylomakkeesta. Kandidaattigeenit tutkittiin pohjoissuomalaisesta perheestä, jossa ensimmäinen oire sydänsairaudesta oli hengenvaarallinen rytmihäiriö. Lisäksi sydänlihaksen kollageenikoostumus analysoitiin histologisista näytteistä potilailta, joiden sydänperäinen äkillinen kuolema johtui idiopaattisesta sydänlihaksen sidekudoskasvusta. Sepelvaltimotauti oli yleisin sydänperäisen äkkikuoleman aiheuttaja (n=2082, 78,2 %). Ei-iskeemisten sydänperäisten äkkikuolemien osuus oli 21,8 % (n=579) kaikista sydänperäisistä äkkikuolemista. Ei-iskeemiset sydänperäiset äkkikuolemat jaettiin alaryhmiin, joista yleisimmät olivat lihavuuteen assosioituva kardiomyopatia (23,7 %), alkoholikardiomyopatia (19,0 %), korkeaan verenpaineeseen assosioituva kardiomyopatia (15,5 %) sekä idiopaattinen sydänlihaksen sidekudoskasvu (13,6 %), joka myös oli yleisin ei-iskeemiseen sydänperäiseen äkkikuolemaan johtava syy alle 40-vuotiailla (28,3 %). Positiivinen sydänperäisen äkkikuoleman sukuhistoria oli tilastollisesti merkitsevästi yleisempää iskeemisillä (34,2 %) kuin ei-iskeemisillä (13,4 %) sydänperäisen äkkikuoleman uhreilla. Lamin A/C – geenin mutaatio löydettiin pohjoissuomalaisesta äkkikuolemaperheestä, jossa idiopaattinen sydänlihaksen sidekudoskasvu todettiin pääasialliseksi patologiseksi löydökseksi. Tyypin I kollageenin synteesi todettiin kohonneeksi idiopaattiseen sydänlihaksen sidekudoskasvuun menehtyneillä vainajilla. Yhteenvetona voidaan todeta, pohjoissuomalaisen väestön ei-iskeemisen sydänperäisen äkkikuoleman tunnuspiirteet eroavat aiemmin raportoiduista; lihavuuteen assosioituva kardiomyopatia, alkoholikardiomyopatia, sekä idiopaattinen sydänlihaksen sidekudoskasvu olivat aiempaa yleisempiä ei-iskeemisen äkkikuoleman aiheuttajia. Positiivinen sydänperäisen äkkikuoleman sukuhistoria ei ollut tilastollisesti merkitsevästi kohonnut ei-iskeemisen sydänperäiseen äkkikuolemaan menehtyneillä. Tämä tarkoittaa, että perinnöllinen syy ei-iskeemisen sydänperäisen äkkikuoleman aiheuttajana on luultua harvinaisempi. Lamin A/C – geenimutaation kantajilla sydänlihassolujen korvautuminen sidekudoksella todettiin hengenvaarallisen rytmihäiriön aiheuttajaksi. Lisäksi, tyypin I kollageenin synteesi todettiin kohonneeksi idiopaattiseen sydänlihaksen sidekudoskasvuun menehtyneillä vainajilla
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Jacquens, Julien. "Stabilité, réactivité et performances de conducteurs par ions oxyde de la famille LAMOX comme éléments de cœur de pile à combustible SOFC mono-chambre." Le Mans, 2010. http://cyberdoc.univ-lemans.fr/theses/2010/2010LEMA1020.pdf.
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Les composés de la famille LAMOX, dérivés de La2Mo2O9, sont de bons conducteurs ioniques par ions oxyde sous air mais peuvent être réduits sous atmosphère pauvre en oxygène. Mes travaux ont consisté à démontrer la faisabilité de leur utilisation en tant qu’électrolyte de pile à combustible à oxydes solides (SOFC) en configuration monochambre (moins réductrice). La première partie des résultats traite de la stabilité et des propriétés catalytiques des matériaux LAMOX et d’électrodes sous atmosphère propane:air (proche des conditions de pile monochambre). La stabilité des poudres LAMOX a été démontrée après 72h à 600°C. La2Mo2O9 (LM) peut en outre présenter une activité catalytique oxydative intéressante en vue d’une utilisation sous forme de cermet Ni:LM. Sous atmosphère plus pauvre en oxygène (dihydrogène dilué), des mesures électriques ont montré que la réduction des composés LAMOX semble être optimisable afin de réaliser des électrodes conductrices mixtes ioniques/électroniques (MIEC). Une deuxième partie traite de la compatibilité des interfaces électrolyte/électrodes. Des tests de compatibilité, chimique et mécanique, nous ont conduit à privilégier l’utilisation de nouveaux matériaux de cathode, La0,85Ca0,15FeO3-δ et La0,75Ca0,25Co0,8Fe0,2O3-δ/Ce0,9Gd0,1O1,95 qui n’avaient jamais été testés en conditions réelles de pile. L’anode Ni:La2Mo1,5W0,5O9 (LMW0,5) quant à elle n’a pas présenté de problèmes d’incompatibilité avec l’électrolyte LMW0,5. Enfin, dans une troisième partie, des tests de piles montrent que l’utilisation de cet électrolyte semble possible en conditions réelles de pile monochambre à 600°C. Les performances de piles obtenues sont toutefois inférieures de deux ordres de grandeur à celles de la littérature, en raison de la faiblesse de l’activité électrochimique des cathodes pour la réduction du dioxygène, vérifiée par tests de cellules symétriques. La teneur en nickel de l’anode et ses dimensions se sont par ailleurs avérées déterminantes pour l’orientation du choix des conditions opératoires et la stabilité des performances de pileThe compounds of the LAMOX family, based on La2Mo2O9, are pure fast oxide ionic conductors in air. However, they could be reduced in atmosphere with low oxygen partial pressure. The aim of this work has been to probe the feasibility of their use as electrolyte of Solid Oxide Fuel Cell, with inglechamber geometry (less reducing). The first part of results is dedicated to the stability and catalytical properties of LAMOX compounds and electrode materials under propane:air mixture (similar to single chamber conditions). The stability of LAMOX powder has been probed after 72h at 600°C. Moreover La2Mo2O9 (LM) seems to be a good oxidation catalyst, which might be useful as anode composite Ni:LM. Under more reducing atmosphere (diluted hydrogen), electrical measurements have shown that the reduction of LAMOX compounds could be optimised in order to form mixed ionic/electronic conducting anodes. In the second part, interest is given to solid/solid compatibility between different components. Chemical and mechanical compatibility tests have guided our choice on two new cathode materials, La0. 85Ca0. 15FeO3-δ and La0. 75Ca0. 25Co0. 8Fe0. 2O3-δ/Ce0. 9Gd0. 1O1. 95 which had never been tested in real operating conditions of fuel cell. Concerning the anode Ni:La2Mo1. 5W0. 5O9 (LMW0,5), no problem of incompatibility has been observed with the electrolyte LMW0. 5. Finally, in a third part, fuel cell tests have shown that the use of this electrolyte seems to be possible under propane:air mixture at 600°C. However, the power of cell is lower with two levels of magnitude to that reported in litterature, because of poor electrochemical activity of the cathodes for oxygen reduction, checked by symmetric cell measurements. The nickel content of the anode and its dimensions have also proved crucial for the choice of operating conditions and the stability of fuel cell performances
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Marafona, Ana Marlene Neto. "The novel LAP1: TRF2 complex is associated to DNA damage." Master's thesis, Universidade de Aveiro, 2016. http://hdl.handle.net/10773/22000.
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Mestrado em Biomedicina MolecularLamin associated protein 1 (LAP1) is a type II integral membrane protein located at the inner nuclear membrane (INM). The role of LAP1 remains poorly understand, however, this protein has been associated with several cellular functions due to its interactions with lamins, phosphatase protein 1 (PP1), emerin and torsinA. Moreover, novel putative LAP1 interactors are emerging. A recent study from our group allowed the identification of several novel putative LAP1 interactors involved in telomere signaling and DNA damage responses, namely Ataxia-telangiectasia mutated (ATM), Telomeric repeat binding factor 2 (TRF2), Repressor Activator Protein 1 (RAP1), RAP1 interacting factor 1 homologue (RIF1), Mitotic arrest deficient-like1 (MAD2L1) and Mitotic arrest deficient-like1 binding protein (MAD2L1BP). Protein-protein interactions are crucial in the study of signaling pathways. In this study, TRF2 was identified as a novel LAP1 binding protein using both co-immunoprecipitations and mass spectrometry based methodologies. To determine the functional relevance of the novel complex LAP1:TRF2, HeLa cells were subjected to DNA damage using hydrogen peroxide (H2O2), namely double-stranded breaks (DSBs). In response to DSBs, the expression levels of LAP1 and TRF2 were significantly reduced. The phosphorylation of Histone 2A family member (γ-H2AX) that is considered the hallmark of DSBs was also evaluated. Upon DNA damage, LAP1 not only co-localizes with γ-H2AX in some specific points near nuclear envelope (NE) and nucleus, but also with TRF2 in the nuclear periphery. Moreover, LAP1 and TRF2 have been reported to be crucial for cell cycle progression. Therefore, we decided to pursued this issue. When the NE is reassembled, the complex is located mainly in specific regions of the NE, evidencing that TRF2 allows the attachment of chromosomes to NE membrane in somatic cells. In conclusion, our results are of paramount importance since novel functional insights regarding the novel LAP1:TRF2 complex were achieved particularly related with DNA damage response and cell cycle progression.
Proteína 1 associada com a lâmina (LAP1) é uma proteína integral da membrana do tipo II localizada na membrana nuclear interna (INM). O papel da LAP1 não é inteiramente sabido, no entanto esta proteína tem sido associada a algumas funções celulares devido às suas interações com as lâminas, proteína fosfatase 1 (PP1), emerina e torsinA. Além disso, novos putativos interactores da LAP1 estão a surgir. Um recente estudo do nosso grupo permitiu a identificação de vários novos putativos interactores da LAP1 envolvidos na sinalização dos telómeros e em respostas a danos no DNA, nomeadamente a mutação da ataxia telangiectasia (ATM), fator 2 de ligação às repetições teloméricas (TRF2), proteína 1 ativadora repressora (RAP1), fator homólogo 1 de interação com a RAP1 (RIF1), proteína 1 do checkpoint do fuso mitótico (MAD2L1) e a proteína de ligação à proteína 1 do checkpoint do fuso mitótico (MAD2L1BP). As interações proteína-proteína são cruciais no estudo das vias de sinalização. Neste estudo, a TRF2 foi identificada como uma nova proteína interatora da LAP1 utilizando tanto co-immunoprecipitação como metodologias baseadas em espectrometria de massa. Para determinar a relevância funcional do novo complexo LAP1:TRF2, células HeLa foram submetidas a danos no DNA através do peróxido de hidrogénio (H202), nomeadamente a quebras de DNA de cadeia dupla (DSBs). Em resposta a DSBs, os níveis de expressão da LAP1 e da TRF2 estavam significativamente reduzidos. A fosforilação do membro da família da histona 2A (γ-H2AX) que é considerado um biomarcador de DSBs foi também avaliada. Em resposta a danos no DNA, a LAP1 não só co-localiza com a γ-H2AX em alguns pontos específicos perto do invólucro nuclear (EN) e núcleo, mas também com TRF2 na periferia nuclear. Além disso, a LAP1 e a TRF2 têm sido reportadas como proteínas cruciais na progressão do ciclo celular. Por isso, decidimos prosseguir com esta questão. Quando o EN é remontado, o complexo está localizado principalmente em regiões especificas do EN, evidenciado que a TRF2 permite a ligação dos cromossomas à membrana do NE em células somáticas. Como conclusão, os nossos resultados são de uma importância suprema, uma vez que novas descobertas funcionais relativas ao novo complexo LAP1:TRF2 foram alcançadas, particularmente relacionadas com respostas a danos no DNA e progressão do ciclo celular.
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QUARTA, GIOVANNI. "CORRELAZIONE GENOTIPO-FENOTIPO NELLA CARDIOMIOPATIA ARITMOGENA DEL VENTRICOLO DESTRO." Doctoral thesis, 2011. http://hdl.handle.net/11573/918115.
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ABSTRACT 1 Background. With recognition of disease-causing genes in arrhythmogenic right ventricular cardiomyopathy, mutation
analysis is being applied.
Methods and Results. The role of genotyping in familial assessment for arrhythmogenic right ventricular cardiomyopathy
was investigated, including the prevalence of mutations in known causal genes, the penetrance and expressivity in
genotyped families, and the utility of the 2010 Task Force criteria in clinical diagnosis. Clinical and molecular genetic
evaluation was performed in 210 first-degree and 45 second-degree relatives from 100 families. In 51 families, the
proband was deceased. The living probands had a high prevalence of ECG abnormalities (89%) and ventricular
arrhythmia (78%) and evidence of more severe disease than relatives. Definite or probable causal mutations were found
in 58% of families and 73% of living probands, of whom 28% had an additional desmosomal variant (ie, mutation or
polymorphism). Ninety-three relatives had a causal mutation; 33% fulfilled the 2010 criteria, whereas only 19% satisfied
the 1994 version (P=0.03). An additional desmosomal gene variant was found in 10% and was associated with a 5-fold
increased risk of developing penetrant disease (odds ratio, 4.7; 95% confidence interval, 1.1 to 20.4; P=0.04).
Conclusions. Arrhythmogenic right ventricular cardiomyopathy is a genetically complex disease characterized by marked
intrafamilial phenotype diversity. Penetrance is definition dependent and is greater with the 2010 criteria compared with
the 1994 criteria. Relatives harboring >1 genetic variant had significantly increased risk of developing clinical disease,
potentially an important determinant of the phenotypic heterogeneity seen within families with arrhythmogenic right
ventricular cardiomyopathy. ABSTRACT 2 Aims. Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease predominantly caused by mutations in desmosomal protein genes. Lamin A/C gene (LMNA) mutations are associated with dilated cardiomyopathy, conduction abnormalities and high incidence of sudden cardiac death. In this study we screened a large cohort of ARVC patients for LMNA mutations.
Methods and Results. One hundred and eight patients from unrelated families with borderline (n= 27) or definite (n= 81) diagnosis of ARVC were genetically tested for five desmosomal genes and LMNA. Sixty-one (56.5 %) were positive for desmosomal gene mutations. Standard polymerase chain reaction (PCR) amplification of the 12 protein-coding LMNA exons was performed and mutational screening performed by direct sequencing. Four patients (4%) without desmosomal gene mutations carried LMNA variants. Three had severe RV involvement, and during follow-up three died (two suddenly and one from congestive heart failure); all three had conduction abnormalities on resting 12 lead ECG. Myocardial tissue from two patients showed myocyte loss and fibro-fatty replacement. In one of these, immunohistochemical staining with antibody to plakoglobin showed reduced/absent staining of the intercalated discs in the myocardium.
Conclusion. LMNA mutations can be found in severe forms of ARVC. LMNA should be added to desmosomal genes when genetically testing patients with suspected ARVC, particularly when they also have ECG evidence for conduction disease.
Books on the topic "Lamont family"
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Thomas, Eleanor M. Archibald Lamont, born 1710, Scotland. Knoxville: Tennessee Valley Pub., 1999.
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Thomas, Eleanor M. Descendants of Archibald Lamont (born 1710, Scotland). 2nd ed. Knoxville, Tenn: Tennessee Valley Pub., 2004.
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Walker, Richard Bordeaux. Daniel Gregory and his wife Sarah Lamont: Their ancestors and descendants. Kettering, Ohio: R.B. Walker, 1992.
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McFarland, Thomas. A genealogy and family history of James and Margaret Lamont MacFarlane (McFarland), 1793-1991: Including the ancestry of Mary Elizabeth McNinny. Omaha: T. McFarland, 1991.
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Paul, Bailey. Gabriel's lament. New York, N.Y: Penguin Books, 1988.
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M, Thompson John. Love and lament: A novel. New York: Other Press, 2013.
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Bennion, Linda F. The family of Lauchlin McLean and Flora Lamon of Cumberland County, North Carolina. Hope Mills, N.C: L.F. Bennion, 2003.
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Lamont, Kate. Kate Lamont: Family, Food and Friends. Fremantle Arts Centre Press, 2000.
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Sullivan, Brenda Smith LaMond. Ancestors of Joseph and Brenda (Lamond) Sullivan. Jarrett Publishing, A. C., 2019.
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Supplement to the History and Genealogical Record of One Branch of the Stilwell Family: Published Sept. 1, 1914, by Lamont and Dewitt Stilwell / by Dewitt Stilwell. Creative Media Partners, LLC, 2021.
Find full textBook chapters on the topic "Lamont family"
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Rutherford, Ian. "“When You Go To The Meadow. . .” The Lament of the Taptara-Women inthe Hittite Sallis Wastais Ritual." In Lament, 53–69. Oxford University PressNew York, NY, 2008. http://dx.doi.org/10.1093/oso/9780195336924.003.0003.
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Abstract The Hittite Kingdom that dominated central Anatolia for about four centuries during the middle of the second millennium b.c.e. is gradually revealing itself to modern scholars, thanks to the discovery and deciphering of extensive archives from its capital at Hattusa (modern Boghaz Köy) in the early decades of the twentieth century. Hittite religion and society are turning out to have been a complex, multilayered structure with Indo-European elements fused with a pre-Indo-European (‘‘Hattic’’) substrate, heavily influenced by the civilization of North Syria. Most of what has been learned about it relates to the experiences and activities of the royal family, the festivals they took part in, their prayers, their intrigues, and their dreams; and for death too the treatment of royalty is much better documented than that of any one else in the society. Most of our information about the royal funerary ritual is textual; archaeology has made little contribution (a point of contrast with mortuary practice in the roughly contemporary Mycenaean civilization in Greece, for which the sources are almost exclusively archaeological).
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"Burial and Lament in Flavian Epic: Mothers, Fathers, Children." In Family in Flavian Epic, 276–300. BRILL, 2016. http://dx.doi.org/10.1163/9789004324664_013.
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"Lament for My Family, Lost at Sea." In What Really Matters, 11–12. McGill-Queen's University Press, 2000. http://dx.doi.org/10.1515/9780773568105-005.
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Sprigge, Martha. "The Artists’ Cemetery." In Socialist Laments, 251–310. Oxford University Press, 2021. http://dx.doi.org/10.1093/oso/9780197546321.003.0006.
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The development of a public commemorative culture in East Germany extended into the development of new funerary rites for cultural figureheads and everyday citizens. Chapter 5 charts the ruling party’s efforts to restructure the spaces and sounds of national sepulchral culture by examining the funerals for six artists buried at a plot reserved for members of the Academy of the Arts in East Berlin. Each artist was honored with a state funeral, aimed not to console the bereaved, but to canonize the deceased as socialist heroes. At these events, the deceased’s friends and family made deliberate efforts to reclaim their legacy within the space of the cemetery itself, and continued these personal reflections through musical homage. In doing so, these mourners were continually renegotiating their relationship to the deceased. This chapter thus shows how the relationship between private mourning and public commemoration was in a state of negotiation throughout East Germany’s forty-year existence.
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"One of the Most Gallant Officers in the Navy." In Lamson Of The Gettysburg, edited by James M. McPherson and Patricia R. McPherson, 73–109. Oxford University PressNew York, NY, 1997. http://dx.doi.org/10.1093/oso/9780195116984.003.0005.
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Abstract In November 1862 Lamson finally received his coveted fur lough. He spent Christmas with Kate Buckingham’s family in Mount Vernon, Ohio. During the preceding year Lamson’s correspondence with his cousin Flora had been more frequent than with Kate. But an affection for his younger cousin (Kate was nineteen, Flora twenty-two) had evidently been growing in his heart. Cupid struck powerfully during the holidays. Kate and Roswell confessed their love to each other and announced their engagement. It would turn out to be a long one. A decided shift in Roswell’s correspondence thereafter occurred, as his letters to Kate became full and frequent and those to Flora fade to infrequency.
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Bashford, Christina. "Medium and Message." In Over Here, Over There, 15–36. University of Illinois Press, 2019. http://dx.doi.org/10.5622/illinois/9780252042706.003.0002.
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Musical responses to the sinking of the Lusitania (1915)—a watershed in World War 1—appeared on both sides of the Atlantic. In Britain, Frank Bridge composed his Lament for string orchestra, dedicated to Catherine Crompton, a child who had perished along with her entire family. The piece, performed professionally in London, was written for a type of ensemble that was popular with wealthy amateur women string players. Since strings were associated with the expressivity of the human voice and were becoming understood as having therapeutic properties, Bridge’s music may be considered a “lullament” for its combination of elements of lullaby and lament. This hybrid genre of grief further carried gendered and class-ridden meanings. The work reinforced and transcended British cultural and musical norms and boundaries.
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Brooks, Lisa. "The Captive’s Lament: Reinterpreting Rowlandson’s Narrative." In Our Beloved Kin. Yale University Press, 2018. http://dx.doi.org/10.12987/yale/9780300196733.003.0011.
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This chapter presents a nuanced close reading of The Sovereignty and Goodness of God . . . A Narrative of the Captivity and Restoration of Mrs. Mary Rowlandson, framed within Indigenous geographies. Although Rowlandson conveyed a picture of a forbidding wilderness, she traveled through an intricately mapped network of Indigenous people and places, including the Nipmuc interior and the Connecticut River Valley. This chapter provides an alternative map and narrative of Rowlandson’s “removes” through Native towns and territories and elucidates the ways in which the stories of Weetamoo, James Printer, and Mary Rowlandson intertwined. Shortly after the raid on her town of Lancaster, Rowlandson was carried to the Nipmuc stronghold of Menimesit, where she encountered James and his extended family, and was given to Weetamoo, whom she followed deep into the interior of Nipmuc and Sokoki countries, as the saunkskwa sought protective sanctuaries for Native families who were evading colonial troops.
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Miola, Robert S. "Chidiock Tichborne." In Early Modern Catholicism, 180. Oxford University PressOxford, 2007. http://dx.doi.org/10.1093/oso/9780199259854.003.0027.
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Abstract Born into a noble Catholic family, Chidiock Tichborne (1558?–86) joined the 1586 Babington plot to assassinate Elizabeth and put Mary Stuart on the throne, for which he was executed on 20 September 1586. Tichborne repented on the gallows and left behind a moving letter to his wife and several verses, including the poignant lament below. This admired poem, ironically, Wrst appeared to the public in a pamphlet celebrating the foiling of the plot and the execution of the conspirators, Verses of Praise and Joy written upon Her Majesty’s Preservation (1586).
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Weber, Klaus. "Evolutionary aspects of IF proteins." In Guidebook to the Cytoskeletal and Motor Proteins, 291–95. Oxford University PressOxford, 1999. http://dx.doi.org/10.1093/oso/9780198599579.003.0094.
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Abstract Extensive work on cytoplasmic intermediate filament (IF) proteins of vertebrates has established a very complex multigene family with close to 50 members in a mammal. These proteins include IF types I to IV as well as additional species. Variability arises primarily from the N- and C-terminal head and tail domains but also from the central α-helical rod domain, which, except for its ends, preserves sequence principles rather than actual sequences. In spite of such differences the helix 1B subdomain keeps a constant length in all cytoplasmic IF proteins so far characterized from vertebrates. In contrast, in nuclear lamins, a special subtype (type V) of IF proteins, from both vertebrates and invertebrates, the length of helix 1B is increased by six heptads or 42 residues. Recent evidence shows that the long helix 1B form is also characteristic of the cytoplasmic IF proteins of various protostomic animals.H Thus in metazoan evolution the long helix 1B form was changed by a deletion to the short helix 1B version prior to the diversification into types I to IV. Current results suggest that this deletion occurred either with the deuterostomic branch or prior to the chordates. Sequence comparisons further suggest that cytoplasmic IF proteins arose possibly from a mutated lamin early in evolution.
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Warner, Elizabeth. "Death Rites and Laments in Russia." In The Oxford Handbook of Slavic and East European Folklore, C8.P1—C8.N5. Oxford University Press, 2022. http://dx.doi.org/10.1093/oxfordhb/9780190080778.013.8.
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Abstract This chapter presents an overview of traditional mortuary and memorial ritual in Russia in the twentieth and twenty-first centuries, concentrating on practices and beliefs in rural communities. Traditional funeral ritual is viewed as a living and fundamental pillar of the villagers’ life-world, supporting the deeply held convictions that life continues after death; that family and kinship bonds are maintained down the ages through honoring, nourishing, and remembering their dead; and that veneration of ancestors (roditeli) ensures continuity in the shared life of communities. Particular attention is paid to lament, both as a poetic form and as an instrument for communication with the dead, and to the role of lamenters as intermediaries between the living and the dead. Developments in the methodology of studying death rites and changes in traditional practice wrought by political, historical, and social pressures, particularly in the Soviet period, are also discussed.
Conference papers on the topic "Lamont family"
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Aukes, Daniel M., and Robert J. Wood. "Algorithms for Rapid Development of Inherently-Manufacturable Laminate Devices." In ASME 2014 Conference on Smart Materials, Adaptive Structures and Intelligent Systems. American Society of Mechanical Engineers, 2014. http://dx.doi.org/10.1115/smasis2014-7442.
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We present several algorithms suited for the generation and analysis of structures used in manufacturing laminate electro-mechanical devices. These devices may be fabricated by a family of related manufacturing processes such as printed-circuit MEMS (PC-MEMS) smart composite microstructures (SCM), or lamina emergent mechanisms (LEM), which, by utilizing multi-material laminate composites, enables kinematic motion, component embedding, and monolithic fabrication of high-precision millimeter-scale features. The presented algorithms enable rapid generation of manufacturing features such as support structures and cut files, while facilitating integration with the user’s design intent and available material removal processes. An exemplar device is presented, which, though simple in concept, could not be manufactured without the aid of an expert designer to produce the same features generated by these algorithms.
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Driscoll, Tristan P., Su-Jin Heo, and Robert L. Mauck. "Dynamic Tensile Loading and Altered Cell Contractility Modulate Nuclear Deformation and Cytoskeletal Connectivity." In ASME 2012 Summer Bioengineering Conference. American Society of Mechanical Engineers, 2012. http://dx.doi.org/10.1115/sbc2012-80550.
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Effective use of progenitor cells in orthopaedic tissue engineering will require a thorough understanding of the mechanisms by which forces are transmitted and sensed, and how these change with differentiation. Nesprins are a family of structural proteins that partially localize to the nuclear envelope where they interact with both cytoskeletal and nucleoskeletal proteins [1]. At their C-terminus, nesprins interact through a KASH domain with proteins of the nuclear membrane, including SUN and Lamin A/C [1]. Multiple isoforms of the 4 nesprin genes are produced by alternative transcriptional initiation, translation and splicing. Specifically, nesprin 1 and nesprin 2 giant contain an N-terminal calponin homology domain (CH) that binds to and co-localizes with F-actin [2]. These nesprins are necessary for transmission of stress to the nucleus and are also differentially regulated with myogenesis, neurogenesis and adipogenesis [3,4]. We previously demonstrated that addition of TGF-3 induced nuclear Lamin A/C reorganization and nuclear stiffening in mesenchymal stem cells (MSCs), along with increased cell contractility and altered accumulation of smaller nesprin isoforms [5,6]. This study sought to determine the importance of contractility in transmission of force to the nucleus and the effect of dynamic loading on the expression of the giant nesprin isoforms.
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Iegoroff, Renan, Rafael Herlan Terceros Vaca, Gustavo Araújo Pinheiro, Alvaro Marcelo Huchani Huanca, Matheus Henrique de Souza Coradini, and Leonardo Mariano Inácio Medeiros. "Cadasil, atypical and familial presentation – family case report." In XIV Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2023. http://dx.doi.org/10.5327/1516-3180.141s1.318.
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Introduction: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), is a non-atherosclerotic, nonamyloid, hereditary cerebral disease of small vessels and capillaries caused by mutations in the NOTCH-3 gene located on chromosome 19. The presence of granular osmophilic material (GOM) deposition in the smooth muscle cells of vessel walls is the pathological hallmark of arteriopathy in CADASIL. GOM deposits in the basal lamina of smooth muscle of small vessels are pathognomonic for CADASIL. The presence of GOM in capillary blood vessels of the skin and muscle in biopsy and genetic studies (NOTCH-3 analysis) plays a key diagnostic role. Biopsy tests have high specificity (up to 100%) and low sensitivity (less than 50%). The NOTCH-3 test has been proposed as the primary diagnostic approach, allowing detection of 90% of affected individuals. CADASIL has an estimated prevalence between 2 and 5 in 100,000, and the phenotypic study demonstrates different clinical symptoms in the course of the disease within the same family. The average age of onset of clinical symptoms varies between 48.3 years in men and 52.2 years in women. Characteristic symptoms of migraine, stroke or TIA (transient ischemic attack), behavioral changes, early and progressive cognitive changes associated with leukoencephalopathy on imaging studies. The large association of symptoms often causes the diagnosis of CADASIL to be delayed. In this case, we had an association of gait ataxia within the framework of motor alterations, demonstrating the wide range of symptomatology of the pathology. This case report presents a familial course that started outside the most prevalent age group in the studies described and with an atypical presentation in an affected generation. Case reports: Case 01: woman, 68 years old, started progressively forgetting to perform household activities after the age of fifty, associated with primarily generalized myoclonic epileptic seizures, evolving rapidly within five years to walking apraxia with the use of a wheelchair and tonic-tonic epileptic seizures. bilateral clonic disorders, comprehension aphasia and bradypsychism. Relatives report previous migraine without chronic aura and REM (rapid eye movement sleep) sleep behavior disorder (RMSD). On neurological examination, severe ataxia with bilateral dysdiadochokinesia associated with bilateral hypometric index-index. Bilateral ROT 4+/4+ with bilateral Hoffman and Babinski signs. MMSS and MMII with FGM 4/5 proximal and distal. Case 02: woman, 36 years old, pastry chef, had episodes of forgetting about everyday activities of her work, progressive in the last three years (cake recipes, budget accounts, orders placed) associated with confusion for spatial location on the way home/ work, evolving to apraxia in writing letters and words and difficulty with calculations associated with monoparesis of the right lower limb for twelve months with progression to paresis of the lower limbs after six months and evolution to paresthesia of the upper limbs for three months. Associated with the condition, he has migraine without chronic aura and RMSD. The neurological examination showed Mini-Mental State Examination 22/30 (expected score of 29), list of animals in one minute: 09 animals; list of words starting with “F”: 03 words; clock test: 2/4; difficulty with calculations and digital agnosia with right/left apraxia; Upper limbs: eutrophic, FMG 4/5, bilateral distal; FMG 5/5 bilateral proximal; Lower limbs: eutrophic, bilateral FMG 4/5 distal and proximal with positive Mingazini; atypical gait with evidenced weakness in heel, toe and tandem gait; Bilateral dysdiadochokinesia with eumetric, slowed indexindex; ROT 4+/4+ in the right side with positive Hoffman and Babinski signs. MRI Brain (17/09/2020): extensive area of hypersignal on T2 and FLAIR (T2- weighted-Fluid-Attenuated Inversion Recovery) involving the periventricular white matter in all lobes without atrophic or expansive effect; Case 03: woman, 45 years old, started behavioral arrest epileptic seizures at the age of thirty-two, progressing to focal dysperceptive seizures with progression to bilateral tonic clonic seizures after eight months and multiple episodes of anterograde amnesia, presenting forgetfulness related to everyday work activities (exchanged worksheets , payments, calculation errors and budgets); associated with the condition presented migraine without chronic aura and RMSD. Genetic Test (04/06/2017): Heterozygous alteration in exon 8 of the NOTHC – 3 gene. Discussion: CADASIL presents a rare cause of cognitive decline and is often overlooked in diagnosis, except in cases of high clinical suspicion in a familial course. Access to imaging tests becomes fundamental for the diagnostic segment and the primordial genetic test for etiological elucidation and family planning, in the report described the family presentation with the same course of satellite symptoms (migraine without aura, and RMSD) associated with cognitive alteration with anticipation of age of onset are hallmarks of clinical thinking. Cases described in the literature show that the clinical symptomatology is not necessarily related to the level of brain injury observed in the imaging exam, which could be explained by personal factors and which exon is affected. The NOTCH-3 gene has 24 exons, in which the literature reports exon 4 as the most common mutation, followed by 3, 5 and 6, mainly in the Caucasian population. In an Asian population, the most affected exon is 4 and 11, which is also found in Italian descendants. The mutation in exon 8, described in the clinical case, is found in a population of Portuguese origin, being the second most common mutation in this nationality, behind the mutation in exon 4. Brain MRI studies have tried to elucidate the most affected brain regions, aiming to trace a line of evolution. Involvement of the temporal lobe, external capsule and corpus callosum are described as probable markers of CADASIL, and can be used as an aid in the diagnosis due to its specificity of 86% and sensitivity of 89%. Studies also show that the frontoparietal area has frequent findings of hyperintensity (100%), followed by the temporal lobe (83%), less frequently affecting the brainstem, occipital lobe and cerebellum. Despite the great advances in the specialized literature, the causes of the important cognitive dysfunction presented in the course of the evolution of CADASIL remain unclear. However, studies have suggested that the process of cognitive decline is more related to the loss of cortico-subcortical connections than to brain atrophy itself, with these disconnections resulting from repeated transient ischemic accidents. Science has been looking for ways to change the prognosis of CADASIL, recent studies in gene therapy and neurogenetics show the importance of thinking about this pathology as a genetic disease of great importance to change the prognosis of this pathology.