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Auswahl der wissenschaftlichen Literatur zum Thema „Syndrome sein“
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Zeitschriftenartikel zum Thema "Syndrome sein"
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Imbert, B., und JL Debru. „Syndrome néphrotique et cancer du sein“. La Revue de Médecine Interne 15 (Januar 1994): 97s. http://dx.doi.org/10.1016/s0248-8663(05)82645-1.
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Llambrich, Claire, Marie-Christine Falcou, Yann de Rycke, Paul Cottu, Sylvie Carrié und Malika Medjbari. „Cancer du sein et syndrome mains-pieds“. Soins 57, Nr. 766 (Juni 2012): 25–28. http://dx.doi.org/10.1016/j.soin.2012.04.015.
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Aziza, Claude. „Antiquités parallèles (8)Le syndrome du sein droit“. Anabases, Nr. 27 (01.04.2018): 161–65. http://dx.doi.org/10.4000/anabases.7127.
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Guedin, P., J. Chasle, C. Blanc-Fournier und J. Lacroix. „Cancer du sein et chondrosarcome osseux : un nouveau syndrome ?“ Journal de Radiologie 87, Nr. 11 (November 2006): 1700–1704. http://dx.doi.org/10.1016/s0221-0363(06)74150-6.
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5
Pelissier, A., J. Dumesnil, R. Levy, C. Charron und R. Rouzier. „Syndrome du choc toxique staphylococcique après chirurgie du sein“. Journal de Gynécologie Obstétrique et Biologie de la Reproduction 43, Nr. 7 (September 2014): 526–29. http://dx.doi.org/10.1016/j.jgyn.2014.02.003.
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Sulkowski, Udo, und Rudolf Mennigen. „Das Low anterior Resection Syndrome (LARS)“. Zentralblatt für Chirurgie - Zeitschrift für Allgemeine, Viszeral-, Thorax- und Gefäßchirurgie 144, Nr. 04 (05.02.2019): 419–25. http://dx.doi.org/10.1055/a-0754-2482.
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Zusammenfassung Hintergrund Mit einem 5-Jahres-Überleben von mittlerweile 80% rückt die postoperative Lebensqualität nach onkologischer Rektumresektion zunehmend in den Fokus des Interesses. Das Low anterior Resection Syndrome (LARS) fasst die postoperative Morbidität infolge des operativen Eingriffes zusammen. Material und Methode Es wurde eine selektive Literaturrecherche durchgeführt, um das Bild des LARS näher zu definieren und Verständnis für seine Pathophysiologie, Diagnose, Therapie und Prophylaxe zu entwickeln. Ergebnisse LARS wird in bis zu 80% nach allen stomavermeidenden operativen Eingriffen beobachtet, die beim Rektumkarzinom durchgeführt werden. Die Kapazität des Rektumstumpfes wie auch die Verletzung nervaler Strukturen scheinen die wichtigsten pathogenetischen Faktoren zu sein, die zu einer signifikanten Einschränkung der Lebensqualität führen. Schlussfolgerungen Es existieren verschiedene therapeutische Ansätze, um die Konsequenzen des LARS beim einzelnen Patienten abzuschwächen. Nichtsdestotrotz wird in der Zukunft noch viel Arbeit notwendig sein, um nicht nur das Überleben, sondern auch die Lebensqualität nach einem Rektumkarzinom zu verbessern.
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Gschossmann, J. M. „Irritable Bowel Syndrome - eine Standortbestimmung“. Praxis 97, Nr. 9 (01.04.2008): 489–94. http://dx.doi.org/10.1024/1661-8157.97.9.489.
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Das Reizdarmsyndrom (Irritable Bowel Syndrome IBS) stellt durch seine hohe Prävalenz und seinen chronischen Krankheitsverlauf ein bedeutendes Krankheitsbild für den niedergelassenen Arzt dar. Gekennzeichnet ist das IBS vor allem durch chronisch rezidivierende Abdominalschmerzen und Stuhlgangsunregelmässigkeiten, ohne dass in der Routinediagnostik eine dafür erklärende Pathologie gefunden werden kann. Die Ursachen für die Entstehung eines IBS scheinen multifaktoriell und sowohl intrinsischer als auch extrinsischer Natur zu sein. Im Zentrum der pathophysiologischen Alterationen stehen Veränderungen der gastrointestinalen Motilität sowie der viszeralen Schmerzperzeption und -verarbeitung. Die therapeutischen Optionen sind bis dato immer noch primär symptomatischer Natur. Nicht zuletzt bedingt durch potentielle Nebenwirkungen kausal ansetzender Therapiestrategien sind diese aktuell noch deutlich limitiert.
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Djaroud, Z., K. Terki, F. Benlebna, B. Boumédiene Zellat und F. El Abed. „Lymphœdème et syndrome du bras douloureux après néo du sein opéré“. Douleurs : Evaluation - Diagnostic - Traitement 13 (November 2012): A78—A79. http://dx.doi.org/10.1016/j.douler.2012.08.215.
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Cohen-Haguenauer, Odile. „Prédisposition héréditaire au cancer du sein (1)“. médecine/sciences 35, Nr. 2 (Februar 2019): 138–51. http://dx.doi.org/10.1051/medsci/2019003.
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L’oncogénétique a pour objectif principal de caractériser une sous-population à haut risque de développement de cancers à un âge précoce afin de préconiser les recommandations pour un parcours optimisé de suivi et de soins. La consultation d’oncogénétique contribue à évaluer un risque individuel à partir d’une histoire familiale. Par une approche familiale de génétique formelle, il s’agit de repérer les familles avec une forte agrégation de cancers, éventuellement évocatrice d’un syndrome de prédisposition héréditaire. Cette démarche peut conduire à la proposition d’un test génétique constitutionnel à la recherche de mutations causales. Jusqu’à une période récente, la recherche de mutation constitutionnelle sur les gènes BRCA a abouti à l’identification d’une mutation délétère chez moins de 10 % des cas-index analysés. Il est donc important d’évaluer l’impact de nouveaux gènes dans le panorama actuel de la prédisposition héréditaire au cancer du sein et de l’ovaire.
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Schörling, A., und C. Trenkwalder. „Parkinson-Syndrome und Schlafprobleme“. Nervenheilkunde 27, Nr. 08 (2008): 733–37. http://dx.doi.org/10.1055/s-0038-1627136.
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ZusammenfassungMit dem Morbus Parkinson und anderen Parkinson-Syndromen gehen bis zu 90% Schlafstörungen einher, die krankheitsbedingt verursacht, aber auch durch die Therapie hervorgerufen sein können und noch immer wenig Beachtung finden. Eine bestehende REM-Schlaf-Verhaltensstörung (RBD) kann ein Vorbote für den Beginn einer neurodegenerativen Erkrankung darstellen. Eine Polysomnografie unterstützt die differenzialdiagnostische Abgrenzung.
Dissertationen zum Thema "Syndrome sein"
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Limpas, Yvon. „Le POEMS syndrome : entité particulière au sein des dyscrasies plasmocytaires“. Bordeaux 2, 1989. http://www.theses.fr/1989BOR25325.
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DI, MARCO JEAN-NOEL. „Le syndrome de kearns-sayre : situation actuelle au sein des mitochondriopathies“. Aix-Marseille 2, 1990. http://www.theses.fr/1990AIX20005.
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Bonnaud-Antignac, Angélique. „Etude des réactions psychologiques face au Syndrome Douloureux Post-Mastectomie : une approche intégrative“. Toulouse 2, 2000. http://www.theses.fr/2000TOU20054.
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Cette etude longitudinale, menee au centre regional de lutte contre le cancer de la gironde, a etudie les reactions cognitives et emotionnelles a la douleur postoperatoire de quatre-vingtdeux femmes traitees chirurgicalement pour un cancer du sein (tumorectomie ou mastectomie). Les resultats ont montre que la moitie des patientes presentaient un syndrome douloureux post-mastectomie a six mois postoperatoires et que les reactions cognitives et affectives a la douleur postoperatoire chronique etaient influencees par l'anxiete-trait et l'investissement corporel, deux caracteristiques psychologiques evaluees en preoperatoire, sans que l'intensite douloureuse ne soit un facteur determinant. De plus, les reactions a la douleur, percue dans sa dimension affective, seraient davantage dependantes des representations et du sens qui lui sont associes. Dans une dynamique integrative de la psychologie de la sante et de la psychologie clinique, l'etude des dimensions cognitivoaffectives des reactions a la douleur ont permis d'expliquer la fonction defensive temporaire de la douleur vis-a-vis de l'atteinte ou de la perte du sein par le processus d'arret cognitif. Ainsi, cette etude a souligne l'importance de considerer un phenomene subjectif en lien avec l'ensemble des facteurs medicaux, sociaux et psychologiques dans le but d'une meilleure comprehension et d'une meilleure prise en charge.
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Dury, Alain. „Étude de la compartimentalisation de sous-populations de la Fragile X Mental Retardation Protein au sein de la cellule“. Doctoral thesis, Université Laval, 2017. http://hdl.handle.net/20.500.11794/27704.
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Le syndrome du X fragile, première cause de retard mental héréditaire, est une maladie monogénique liée au chromosome X. Le syndrome affecte environ un homme sur 4000 et une femme sur 6000 dans la population générale. Il est causé par l'inactivation du gène Fragile Mental Retardation 1 (FMR1) entraînant l'absence de la Fragile X Mental Retardation Protein (FMRP). Celle-ci est une protéine de liaison à l'ARN ayant pour rôle présumé de coordonner le devenir et la traduction d'un grand nombre d'ARN messagers (ARNm). L'absence de FMRP provoquerait une dérégulation subtile du transport des ARNm, conduisant à une altération de la synthèse protéique locale nécessaire à la connexité synaptique, entraînant ainsi le retard mental. Il est accepté que la FMRP possède des signaux de localisation nucléaire et d'exportation cytoplasmique (Nuclear Localisation Signal et Nuclear Export Signal ; NLS et NES) permettant à la protéine de pénétrer dans le noyau et supposément d'en ressortir. Cependant, les anticorps disponibles dans le passé ne permettent pas d'étudier la localisation et le rôle de FMRP dans le noyau. Grâce à de nouveaux anticorps monospécifiques développés dans le laboratoire, nous avons pu étudier la compartimentalisation de sous-populations de la protéine FMRP. Je développerai donc ici brièvement le devenir de la FMRP cytoplasmique (cFMRP) dans les neurones, et je caractériserai la FMRP nucléaire (nFMRP), que de nombreux laboratoires ont recherché durant de nombreuses années, et qui serait constituée par des isoformes particulières de la protéine FMRP qui se localiseraient dans les corps de Cajal, structures décrites il y a plus d'un siècle par Santiago Ramon y Cajal. Les données présentées ici soulèvent le doute sur le modèle de trafic nucléo-cytoplasmique de la FMRP, suggéré sur la base de rares travaux. La découverte de la nFMRP pourrait avoir d'importantes implications dans le domaine du Syndrome du chromosome X Fragile en ouvrant un champ nouveau d'étude sur le rôle nucléaire de la FMRP dans les cellules, et donc sur les conséquences de son absence chez les patients.Fragile X syndrome, a monogenic disease linked to the chromosome X, is the first cause of inherited mental retardation. The syndrome affects about one out of 4000 man, and one out of 6000 woman. Fragile X is caused by the inactivation of the Fragile X Mental retardation (FMR1) gene, leading to the absence of its product, the Fragile X Mental Retardation Protein (FMRP). The absence of FMRP, an RNA binding protein, is believed to cause translation dysregulation and defects in mRNA transport essential for local protein synthesis and for synaptic development and maturation. It is accepted that FMRP possesses a nuclear localisation signal (NLS), and a nuclear export signal (NES), allowing the protein to enter the nucleus, and possibly to exit from it as well. However, available antibodies do not allow to study the nuclear localisation of FMRP. Thanks to a new generation of monospecific antibodies developed in our laboratory, we were able to study the cytoplasmic and the nuclear distribution of FMRP. I will therefore shortly develop the fate of cytoplasmic FMRP (cFMRP) in neurons, and I will characterise the nuclear FMRP (nFMRP) that has been sought after for many years. nFMRP consists in particular nuclear FMRP isoforms that localize to Cajal bodies, structures described more than a century ago by the famous neuroscientist Santiago Ramon y Cajal. Data presented here also raise doubts on the nucleocytoplasmic traficking model, which relies on very few evidence. The discovery of nFMRP could have great implication in the Fragile X domain, opening a whole new field of investigation on the role of FMRP in the cell nucleus, and therefore on the consequences of its absence in patients.
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Leman, Raphaël. „Développement d'outils biostatisques et bioinformatiques de prédiction et d'analyse des défauts de l'épissage : application aux gènes de prédisposition aux cancers du sein et de l'ovaire“. Thesis, Normandie, 2019. http://www.theses.fr/2019NORMC418/document.
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L’analyse des défauts d’épissage est particulièrement complexe. Outre la diversité des transcrits présents à l’état physiologique, les variations nucléotidiques peuvent induire des modifications hétéroclites de l’épissage. Ces variations, appelées variants splicéogéniques, et leur impact au niveau de l’épissage, sont à même de modifier plus ou moins sévèrement le phénotype de l’individu.Au cours de ce travail de thèse, nous nous sommes intéressés à trois grands aspects de l’étude des défauts de l’épissage : (i) la prédiction de ces défauts d’épissage, (ii) l’analyse des données de RNA-seq et (iii) le rôle de l’épissage dans l’interprétation de la pathogénicité d’un variant pour la prédisposition aux cancers du sein et de l’ovaire (syndrome HBOC).Nous avons optimisé les recommandations en vigueur pour identifier les variants splicéogéniques au sein des séquences consensus des sites d’épissage. Ce travail a conduit à la publication d’un nouvel outil SPiCE (Splicing Prediction in Consensus Elements), développé sur 395 variants. SPiCE a le potentiel d’être une aide à la décision pour guider les généticiens vers ces variants splicéogéniques, grâce à une exactitude de 94.4 %. Puis, nous avons comparé les outils de prédiction des points de branchement. Pour cela, une collection sans précédente de 120 variants avec leurs études ARN a été établi dans la région des points de branchements. Nous avons ainsi révélé que ces outils de prédictions sont aptes à prioriser les variants pour des études ARN dans ces régions jusque-là peu étudiées. Pour étendre les prédictions des variants splicéogéniques au-delà d’un motif spécifique, nous avons construit l’outil SPiP (Splicing Prediction Pipeline). SPiP utilise un ensemble d’outils pour prédire un défaut d’épissage quel que soit la position du variant. Ainsi, SPiP peut ainsi s’adresser à la diversité des défauts d’épissage avec une exactitude de 80.21 %, sur une collection de 2 784 variants.Les données issues du RNA-seq sont complexes à analyser, car il existe peu d’outils pour annoter finement les épissages alternatifs. Aussi nous avons publié l’outil SpliceLauncher. Cet outil permet de déterminer une grande diversité de jonctions d’épissage, indépendamment des systèmes RNA-seq utilisés. Cet outil renvoie aussi les résultats sous formes graphiques pour faciliter leur interprétation.Puis nous avons évalué le rôle de l’épissage alternative dans l’interprétation à usage clinique d’un variant. Le gène PALB2, impliqué dans le syndrome HBOC, a été utilisé comme modèle d’étude. Nous avons ainsi démontré que l’épissage alternatif de PALB2 est apte à remettre en cause la pathogénicité de certains variants. La collecte de données fonctionnelles et cliniques sont donc nécessaires pour conclure sur leur pathogénicité.Nos travaux illustrent ainsi l’importance de la caractérisation et de l’interprétation des modifications de l’épissage pour répondre aux défis présents et futurs du diagnostic moléculaire en génétiqueAnalysis of splicing defects is particularly complex. In addition to the diversity of physiological transcripts, nucleotidic variations can induce heterogeneous alteration of splicing. These variations, called spliceogenic variants, and their impact on splicing, can involve severe consequences on the individual phenotype.In this thesis work, we focused on three main aspects of the study of splicing defects: (i) the prediction of these splicing defects, (ii) the analysis of RNA-seq data and (iii) the role of splicing in interpreting the pathogenicity of a variant for the hereditary breast and ovarian cancers (HBOC syndrome).We optimized the current recommendations to identify spliceogenic variants within the consensus sequences of splicing sites. This work led to the publication of a new tool, SPiCE (Splicing Prediction in Consensus Elements), developed on 395 variants. SPiCE has the potential to be a decision support tool to guide geneticists towards these spliceogenic variants, with an accuracy of 94.4%. Then, we compared the tools dedicated to branch points prediction. For this purpose, an unprecedented collection of 120 variants with their RNA studies has been established in the branch point region. Thus, we revealed these prediction tools are able to prioritize variants for RNA studies in these hitherto poorly studied regions. To extend the predictions of spliceogenic variants beyond a specific motif, we built SPiP (Splicing Prediction Pipeline) tool. SPiP uses a set of tools to predict a splicing defect regardless of the variant position. Thus, SPiP can address the diversity of splicing defects with an accuracy of 80.21%, on a collection of 2,784 variants.The data from the RNA-seq are complex to analyze, as there are few tools to finely annotate alternative splices. Also we published SpliceLauncher tool. This tool allows to determine a wide variety of splicing junctions, independently of RNA-seq systems used. This tool also returns the results in graphical form to make interpretation user-friendly.Then we evaluated the role of alternative splicing in the clinical interpretation of a variant. The PALB2 gene, involved in HBOC syndrome, was used as a study model. Thus, we demonstrated that the alternative splicing of PALB2 is able of challenging the pathogenicity of certain variants. Collection of functional and clinical data is therefore necessary to conclude on their pathogenicity.Our work thus illustrates the importance of characterizing and interpreting splicing modifications to meet the current and future challenges of molecular diagnosis in human genetics
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Le, Gall Anne. „Variabilite antigenique et genomique du virus du syndrome dysgenesique et respiratoire porcin. Relations phylogenetiques au sein des arterivirus“. Rennes, Agrocampus Ouest, 1997. http://www.theses.fr/1997NSARB093.
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Le virus du syndrome dysgenesique respiratoire porcin (sdrp) est un virus a arn positif simple brin, appartenant a la famille des arteriviridae. La variabilite antigenique de ce virus a ete etudiee par la comparaison des profils epitopiques de 18 isolats viraux a l'aide d'un panel d'anticorps monoclonaux, obtenus au laboratoire ou genereusement offerts par des equipes etrangeres. Les hybridomes ont ete obtenus en testant differents protocoles de purification de virus, et en utilisant des modalites d'immunisation classiques ou visant a orienter la reponse immunitaire des souris. La variabilite genomique du virus a ete realisee par l'etude des sequences du gene de nucleoproteine (orf7) de 33 isolats viraux. L'analyse phylogenetique realisee a partir des profils epitopiques et des sequences de l'orf7 a revele l'existence de deux groupes tres differents du virus du sdrp, l'un d'origine europeenne et l'autre d'origine americaine. Les autres arterivirus, l'eav, le ldv et le shfv, forment des branches distinctes. Les relations entre arterivirus et l'origine du virus du sdrp sont discutees. Les profils epitopiques et les sequences de l'orf7 n'ont pas permis d'approfondir de relations geographiques ou chronologiques entre isolats d'un meme groupe. L'analyse des mutations au sein de l'orf7 a mis en evidence quatre regions bien conservees, probablement soumises a de fortes pressions de selection. L'etude des substitutions synonymes et non-synonymes dans l'orf7 n'a pas permis d'etablir un taux d'evolution net de ce virus evoluant apparemment plus par sa structure de quasi-espece que par l'accumulation de mutation au cours du temps. Un ou deux passages du virus in vivo ont affecte le profil epitopique au niveau d'un epitope de la proteine gp3, et n'ont induit que des mutations synonymes dans le gene de la nucleoproteine. Gp3 varierait pour echapper a la reaction immunitaire developpee par le porc contre le virus alors que la nucleoproteine serait beaucoup plus stable et soumise a des pressions de selection importante.
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DESHAYES, STEPHANE. „Le syndrome de de morsier kallmann ou dysplasie olfacto-genitale : revue de la litterature a propos de deux observations au sein de la meme fratrie“. Rennes 1, 1992. http://www.theses.fr/1992REN1M012.
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Couillault, Coline. „Hétérogénéité et mécanismes d’initiation de la réponse humorale dans les tumeurs du sein et de l’ovaire“. Thesis, Lyon, 2019. http://www.theses.fr/2019LYSE1051/document.
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Les lymphocytes B (LB) et les plasmocytes (PC) émergent comme des cellules importantes dans la surveillance immunitaire des tumeurs, même si leur rôle pro- ou anti-tumoral reste activement débattu. Nous avons émis l’hypothèse que cette dualité fonctionnelle de la réponse B pourrait être dictée par l'identité des sous-populations de LB infiltrant la tumeur et/ou par la nature des anticorps (Ac) qu’ils produisent. Dans ce contexte, nous avons montré que les tumeurs du sein et de l’ovaire sont souvent infiltrées par des LB mémoires et des PC exprimant/produisant principalement des IgG ou des IgA. Les IgA sont fortement enrichis dans les tumeurs mammaires in situ, plus précoces, et dans 15-20% des tumeurs invasives, suggérant un rôle différentiel des IgG et des IgA dans la progression tumorale. Les IgA, pouvant être monomériques ou dimériques dans les tumeurs, ciblent en général des antigènes (Ags) différents de ceux des IgG. Nous montrons de plus que les Ags ciblés par les IgA et les IgG sont souvent impliqués dans des fonctions de développement des tissus et d’interaction avec l’ADN, et sont parfois partagés entre patients et entre les types de tumeurs, suggérant leur importance dans la réponse anti-tumorale. En parallèle, grâce à l’étude des tumeurs de patientes souffrant d’un syndrome neurologique paranéoplasique, nous avons pu montrer que l’induction concomitante de PC à IgG et de LT CD8+ cytotoxiques dans la tumeur était liée à des amplifications et/ou des mutations dans les gènes des Ags tumoraux. Ces résultats mettent en évidence l’important des LB et des Ig dans la réponse anti-tumoral, et ouvre des pistes pour rechercher des cibles thérapeutiques en immunothérapieB and plasma cells are rising as crucial cells in the immune surveillance of tumors, even though their pro- or anti-tumor role is still debated. We argue that this dual functionality of B cells could depend on the identity of tumor-infiltrating B cell subsets and/or by the nature of the antibodies they produce. With that knowledge, we showed that breast and ovarian tumors are usually infiltrated by memory B cells and plasma cells that express and/or produce mainly IgG or IgA. This last class of Ig in highly enriched in in situ carcinomas of the breast, corresponding to earlier tumors, and in 15-20% of invasive tumors, suggesting a differential role of IgG and IgA in tumor progression. IgA, that can be monomeric or dimeric in tumors, often target antigens that differ from those targeted by IgG. We also show that antigens targeted by IgA and IgG in the tumor are often involved in functions related to the development of tissues and DNA interactions, and can be share amongst patients and between breast and ovarian tumors, suggesting their importance in the anti-tumor immune response. In parallel, using tumors from patients suffering from a paraneoplastic neurological syndrome, we established that the concomitant induction of IgG PC and CD8+ cytotoxic T cells in the tumor is associated wth amplifications and/or mutations in the genes of tumor antigens. These results highlight the importance of B cells and Ig in the anti-tumor immune response and give leads to look for new targets in immunotherapy
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Martin-Blondel, Guillaume. „Migration et pathogénicité des lymphocytes T CD8 au sein du système nerveux central“. Toulouse 3, 2014. http://www.theses.fr/2014TOU30255.
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Le système nerveux central (SNC) bénéficie localement d'un statut immunologique privilégié contrôlant activement les réponses immunitaires potentiellement délétères. Une réponse immunitaire peut toutefois s'y développer au cours de maladies infectieuses ou inflammatoires. Le syndrome inflammatoire de restauration immunitaire (SIRI) est une situation particulière dans laquelle les dommages tissulaires peuvent être dus à l'agent infectieux lui-même, à la réponse immunitaire qu'il a engendrée, ou aux deux. Notre premier objectif était de préciser le rôle des lymphocytes T CD8 (LTCD8), acteurs cruciaux de la réponse immunitaire adaptative, au cours des SIRI observés chez des patients infectés par le VIH ayant développé une leucoencéphalopathie multifocale progressive (LEMP). Nous montrons qu'au cours des LEMP-SIRI, les LTCD8 sont bénéfiques au contrôle de l'infection par le virus JC, au prix d'une destruction accrue des oligodendrocytes infectés. Ces résultats illustrent le rôle des LTCD8 dans la clairance d'un agent pathogène infectant le SNC mais aussi dans la genèse de dommages tissulaires collatéraux. Nous avons ensuite développé un modèle murin de SIRI affectant le SNC basé sur le transfert de LTCD8 naïfs réactifs vis-à-vis d'un néo-antigène présent dans le SNC de souris lymphopéniques. Nous montrons que la lymphopénie est nécessaire mais non suffisante au développement de dommages tissulaires du SNC induits par les LTCD8 qui dépendent d'une part de l'inhibition de mécanismes régulateurs, et d'autre part de l'existence au niveau du SNC de signaux de danger. Ces résultats soulignent les conditions nécessaires au développement du SIRI. Ce modèle murin permettra de tester des stratégies thérapeutiques permettant de moduler la restauration immunitaire pathologique dans le SIRI. Le développement de dommages tissulaires du SNC implique la migration des lymphocytes encéphalitogéniques à travers la barrière hémato-encéphalique. Les molécules d'adhésion impliquées dans la migration des LTCD8 vers le SNC sont mal connues. En utilisant un panel d'anticorps monoclonaux bloquants des molécules d'adhésion ou leurs ligands, nous montrons dans un modèle murin d'auto-immunité du SNC que la migration des LTCD8 cytotoxiques est dépendante de l'intégrine a4ß1. Nous suggérons par ailleurs que VCAM-1 n'est vraisemblablement pas l'unique ligand d'a4ß1, et que d'autres molécules pourraient participer à la migration des LTCD8 vers le SNC. L'identification de molécules additionnelles spécifiquement impliquées dans la migration de populations cellulaires encéphalitogéniques pourrait permettre de mieux préserver les mécanismes participant à l'immunosurveillance du SNC. In fine, notre travail contribue à accroitre les connaissances sur les mécanismes de migration et la pathogénicité des LTCD8 au niveau de SNC en s'appuyant sur des observations faites tant sur des modèles animaux d'inflammation neurologique que chez l'HommeThe central nervous system (CNS) is considered as a unique immune-privileged environment allowing a basal immune surveillance under physiological conditions, and restraining potentially deleterious inflammatory reactions in disease states. Nevertheless, an immune response may develop in the CNS during infectious or inflammatory diseases. The inflammatory immune reconstitution syndrome affecting the CNS (neuro-IRIS) is a particular setting in which tissue damage may be due to the infectious agent itself, the immune response it has generated, or both. CD8 T cells are key players of the adaptive immune response involved in the pathogenesis of infectious or inflammatory diseases of the CNS. Our first aim was to clarify the role of CD8 T cells in the pathophysiology of IRIS that occurred in HIV-infected patients developing progressive multifocal leukoencephalopathy (PML), a severe demyelinating disease due to reactivation of the JC polyomavirus. Analysis by histology, immunohistochemistry and confocal microscopy of PML-IRIS lesions shows the dominance of CD8 T cells, among which a cytotoxic subset engaged JC virus infected oligodendrocytes. During PML-IRIS, the CD8 T cell response is beneficial in controlling JC virus infection, at the cost of increased destruction of infected oligodendrocytes. These results illustrate the role of CD8 T cells in the clearance of a neurotropic pathogen, but also in the genesis of collateral tissue damage. We then developed a murine model of neuro-IRIS based on the transfer of naive CD8 T cells reactive to a neo-antigen selectively expressed in oligodendrocytes of lymphopenic mice. We show that lymphopenia is necessary but not sufficient to trigger CD8 T cell-mediated CNS tissue damage. Development of neuro-IRIS also requires the overcoming of regulatory mechanisms, and the presence of CNS danger signals. These findings underscore the conditions necessary for the development of CNS tissue damage in a setting of immune recovery. This mouse model will help to test therapeutic strategies relevant for HIV-infected patients suffering from neuro-IRIS, aiming to modulate the deleterious immune reconstitution, without dampening it. The development of CNS tissue damage implies the migration of encephalitogenic cells across the blood-brain barrier. Little is known about adhesion molecules involved in the migration of CD8 T cells to the CNS. Using a panel of monoclonal antibodies blocking adhesion molecules or their ligands, we show in a murine model of CNS autoimmunity that migration of CD8 T cells is dependent on the integrin a4ß1. We further suggest that VCAM-1 is probably not the only ligand for a4ß1, and that other molecules may be involved. The identification of additional molecules specifically implicated in the migration of encephalitogenic cell populations may raise the potential for selective control of their trafficking into the brain, preserving better preserve the immune surveillance of the CNS. Ultimately, our work based on observations of neurological inflammation in both animal models and Humans helps to increase the knowledge on the mechanisms of migration and pathogenicity of CD8 T cells in the CNS
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Fagherazzi, Guy. „Facteurs alimentaires, composantes du syndrome métabolique et risques de cancer du sein et de diabète de type II dans la cohorte E3N“. Phd thesis, Université Paris Sud - Paris XI, 2011. http://tel.archives-ouvertes.fr/tel-00718783.
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Le cancer du sein et le diabète de type II sont deux pathologies chroniques majeures chez la femme, qui sont suspectées de partager de nombreux facteurs de risque. Mais leurs étiologies demeurent encore partiellement inconnues,notamment en ce qui concerne certains facteurs alimentaires, ou encore certaines composantes du syndrome métabolique. Les données de la cohorte française E3Nont ainsi été utilisées pour évaluer les associations entre la consommation d'alcool, decafé, de viande, les apports en vitamine D et les risques de cancer du sein et dediabète de type II. De plus, s'il est avéré que le syndrome métabolique est associé àun sur-risque de diabète, des questions persistent quant à l'influence de certainescomposantes du syndrome métabolique, tels que le taux de cholestérol ou certainsfacteurs anthropométriques, sur le risque de cancer du sein. Dans l'évaluation desrisques respectifs de cancer du sein et de diabète de type II, nos travaux ont mis enévidence qu'une consommation élevée de café était associée à une diminution derisque de diabète de type II, qu'un taux sérique élevé de vitamine D, ou un apportélevé en vitamine D alimentaire parmi les femmes résidant dans les zones de forteexposition solaire, étaient associés à une diminution de risque de cancer du sein. Siune consommation nulle ou modérée d'alcool s'est avérée être associée à une absencede sur-risque de diabète de type II, la consommation d'alcool était quant à elleassociée à un sur-risque de cancer du sein. Nos résultats sont également en faveurd'une limitation de la consommation de viande préparée industriellement. Parailleurs, maintenir un indice de masse corporelle et un tour de hanche le plus faiblepossible, à l'aide d'un régime alimentaire équilibré et une activité physique régulière,permettrait également de réduire les risques de cancer du sein et de diabète detype II.
Bücher zum Thema "Syndrome sein"
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Brown, Phil. Toxic exposures: Contested illnesses and the environmental health movement. New York, NY: Columbia University Press, 2007.
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Irene, Diekmann, Schoeps Julius H. 1942- und Moses Mendelssohn-Zentrum für Europäisch-Jüdische Studien., Hrsg. Das Wilkomirski-Syndrom: Eingebildete Erinnerungen, oder, Von der Sehnsucht, Opfer zu sein. Zürich: Pendo, 2002.
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Brandl, Katrin. Hans-guck-in-die-Luft und Zappelphilipp in Musikschule und allgemein bildender Schule: Medizinische Grundlagen, heilpädagogische und soziale Aspekte des Aufmerksamkeitsdefizit/Hyperaktivititäts-Syndroms und seine Beeinflussbarkeit durch Musikerziehung. Fernwald: Musikverlag Muth, 2004.
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Brown, Phil. Toxic Exposures. Columbia University Press, 2007.
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Dionisi-Vici, Carlo, Diego Martinelli, Enrico Bertini und Claude Bachmann. HHH Syndrome. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0020.
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Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is an autosomal recessive disorder of the urea cycle characterized by impaired transport of ornithine across the inner mitochondrial membrane. As seen in other urea cycle defects, in the acute phase the disease is characterized by intermittent episodes of hyperammonemia accompanied by vomiting, lethargy, and coma, with or without signs of acute liver failure. The disease course is characterized by a pyramidal tract dysfunction associated with myoclonic seizures and cerebellar symptoms. Most patients reaching adulthood manifest variable degrees of cognitive impairment and abnormal behavior. Long-term treatment consists of a low-protein diet supplemented with citrulline, arginine, or ornithine. Protein restriction may be combined with sodium benzoate. If plasma creatine levels are low, creatine supplementation should be instituted. Acute treatment is similar to other urea cycle defects.
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Heidet, Laurence, Bertrand Knebelmann und Marie Claire Gubler. Alport syndrome. Herausgegeben von Neil Turner. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199592548.003.0322_update_001.
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This chapter describes the clinical features of Alport syndrome. The characteristic features of this familial condition are haematuria with progressive nephropathy and sensorineural hearing loss. Most cases are X-linked so this is typically seen in boys and young men, but female heterozygous (‘carriers’) of X-linked Alport syndrome are also at significant risk of renal disease in their lifetime. The average age of end-stage renal failure is in the third or fourth decade. Those with autosomal recessive disease (approximately 15%) show a similar phenotype. Hearing loss characteristically develops during teenage years or as a young adult, usually as proteinuria becomes prominent and renal function begins to be lost. Angiotensin-converting enzyme inhibitors may modify this classic description. Ocular abnormalities are less consistent and tend to occur later, often after end-stage renal failure. Retinal changes do not affect sight. Lenticonus can be treated by lens replacement. Other ocular abnormalities occur rarely. Aortic disease has been reported in occasional families.
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Rajakrishna, Premil, Stewart Cameron und Neil Turner. Nephrotic syndrome. Herausgegeben von Neil Turner. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199592548.003.0052.
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Nephrotic syndrome is the constellation of manifestations seen in patients with such severe proteinuria that serum albumin falls below normal levels. Its severity and the risk of complications are graded by the severity of the protein loss. The risks of some complications begin to rise at levels of proteinuria below those conventionally associated with nephrotic syndrome. The main manifestation, oedema, is characterized by avid sodium retention and managed by sodium restriction and diuretics. A pronounced thrombotic tendency is particularly apparent within the first 6 months of diagnosis and in patients with the most severe proteinuria. Venous thromboembolism may be a presenting feature. Prophylactic full anticoagulation may be considered for those at highest risk. Hyperlipidaemia is severe and justifies lipid-lowering therapy in patients with sustained nephrotic syndrome. There is a marked increased risk of bacterial infection, particularly from Streptococcus pneumoniae. The causes of nephrotic syndrome are diseases affecting the podocyte, either directly or through an effect on glomerular matrix (e.g. through scarring). Identification of a cause is important for management and often requires a renal biopsy.
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Pitt, Matthew. Nerve damage and entrapment syndromes. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780198754596.003.0005.
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In this chapter, the pathological classification of nerve damage using the Sunderland classification is described. The neurophysiological findings that allow distinction between neurapraxia, axonotmesis, and neurotmesis are highlighted. Nerve entrapment syndromes involving the upper and lower limb are discussed according to the nerve involved, with particular emphasis on those commonly seen in children. In the upper limb, median, ulnar, and radial nerve entrapments are described with particular emphasis on the carpal tunnel syndrome in mucopolysaccharidosis. Also mentioned here are the thoracic outlet syndrome and neuralgic amyotrophy. In the leg, femoral nerve and sciatic nerve syndromes are discussed with particular emphasis on the differing aetiologies of sciatic nerve palsy in children.
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Niaudet, Patrick, und Alain Meyrier. Idiopathic nephrotic syndrome. Herausgegeben von Neil Turner. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199592548.003.0054_update_001.
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Idiopathic nephrotic syndrome is defined by the combination of massive proteinuria, hypoalbuminaemia, hyperlipidaemia, and oedema, and of non-specific histological abnormalities of the glomeruli. Light microscopy may disclose minimal change disease, diffuse mesangial proliferation, or focal segmental glomerular sclerosis (FSGS). The two main causes of idiopathic nephrotic syndrome are characterized histologically. On electron microscopy the glomerular capillaries show a fusion of visceral epithelial cell (podocyte) foot processes and with the exception of some variants no significant deposits of immunoglobulins or complement by immunofluorescence. In a majority of children only minimal changes are seen on light microscopy. These children are referred to as having ‘minimal change disease’. In adults with idiopathic nephrotic syndrome, lesions of FSGS are more frequent.
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Yurdakul, Sebahattin, Emire Seyahi und Hasan Yazici. Behçet’s syndrome. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199642489.003.0135.
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Behçet's syndrome is a systemic inflammatory panvasculitis (affecting all sizes of vessels) of unknown aetiology. It is in vogue to include it among the systemic autoinflammatory conditions. Behçet's syndrome is more frequent along the ancient 'Silk Route' across Asia than it is in Western countries. The usual onset is the second or third decade, equally affecting either gender. However, young patients and male patients have more severe disease. Almost all patients have recurrent oral ulceration. Scar-forming genital ulcers, a variety of skin lesions including acneiform, erythema nodosum-like lesions, arthritis, potentially blinding panuveitis, thrombophlebitis, gastrointestinal disease, central nervous system (CNS) involvement, and life-threatening bleeding pulmonary artery aneurysms are seen. The pathergy phenomenon is a heightened tissue inflammatory response. The strongest genetic association is with HLA B51. There are immunological aberrations but not prominent enough to call it an autoimmune disease. Similarly, Behçet's syndrome does not fit easily into the broad concept of autoinflammatory diseases. The histopathology is also non-specific and the diagnosis is mainly clinical. Differentiation from Crohn's disease is very difficult. In more than one-half of the patients the disease burns out in time, thus only symptomatic therapy is indicated in some patients. However, eye involvement, pulmonary vascular disease, thrombophilic complications, CNS involvement, and gastrointestinal disease need prompt recognition and treatment. Brief courses of glucocorticosteroids along with immunosuppressives including the newer biologicals, interferon, and colchicine are commonly used. However, controlled clinical trials are not available for some of these medications especially when thrombophilia, CNS, and gastrointestinal disease are present.
Buchteile zum Thema "Syndrome sein"
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Wallhult, Elisabeth, Michelle Kenyon und Barry Quinn. „Early and Acute Complications and the Principles of HSCT Nursing Care“. In The European Blood and Marrow Transplantation Textbook for Nurses, 185–216. Cham: Springer International Publishing, 2023. http://dx.doi.org/10.1007/978-3-031-23394-4_10.
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AbstractHaematopoietic stem cell transplantation (HSCT) generally includes preparative or conditioning regimens containing combinations of chemotherapy and/or radiotherapy and sometimes immunotherapy. These regimens, as well as other treatments before and after HSCT such as immunosuppressive drugs to prevent graft-versus-host disease (GvHD) (see Chap. 11), may affect the patient’s organs and tissues and cause both early and long-term complications. In the evolving field of stem cell therapies, some complications that traditionally have been regarded as early complications are now, due to changes in preparative regimens and choice of stem cell source, sometimes seen later in the post-transplant outpatient setting. The complications covered in this chapter generally occur within 100 days post-HSCT and are thus classified as early complications. Two of the most common early complications are oral complications/mucositis and sepsis. Some other relatively rare complications are also covered here: haemorrhagic cystitis (HC), endothelial damage syndromes including engraftment syndrome (ES), idiopathic pneumonia syndrome (IPS), diffuse alveolar haemorrhage (DAH), thrombotic microangiopathy (TMA) and sinusoidal obstruction syndrome/veno-occlusive disease (SOS/VOD). For all complications, recommendations for prevention and principles for nursing care are presented since careful nursing monitoring and prompt intervention and care may have an impact on patients’ morbidity and mortality.
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Niklas, F. „Das BWS-Syndrom und seine physiotherapeutische Behandlung“. In Brustwirbelsäulenerkrankungen, Engpaßsyndrome, Chemonukleolyse, Evozierte Potentiale, 242–51. Berlin, Heidelberg: Springer Berlin Heidelberg, 1985. http://dx.doi.org/10.1007/978-3-642-70562-5_24.
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Shapiro, Daniel I., Huijun Li und Larry J. Seidman. „Attenuated Psychosis Syndromes Seen Through the Cultural Prism: Relevance, Terminology, and Book Structure“. In Handbook of Attenuated Psychosis Syndrome Across Cultures, 3–6. Cham: Springer International Publishing, 2019. http://dx.doi.org/10.1007/978-3-030-17336-4_1.
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Chavoin, J. P., L. Foucras, A. Chichery, B. Chaput, A. André und J. L. Grolleau. „Sein et syndrome de Poland“. In Chirurgie Plastique et Reconstructive du Sein, 67–73. Elsevier, 2012. http://dx.doi.org/10.1016/b978-2-294-71374-3.00009-x.
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Abou-Khalil, Bassel. „Select Epilepsy Syndromes Seen in Adulthood“. In Atlas of EEG, Seizure Semiology, and Management, herausgegeben von Karl E. Misulis, Hasan H. Sonmezturk, Kevin C. Ess und Bassel Abou-Khalil, 54–56. Oxford University Press, 2022. http://dx.doi.org/10.1093/med/9780197543023.003.0011.
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Select epilepsy syndromes can begin in childhood but are also seen in adulthood. Among these are the family of absence epilepsies, generalized tonic-clonic seizures, Lennox-Gastaut syndrome, and a host of focal epilepsy syndromes. This chapter discusses the clinical features of many of these epilepsy syndromes.
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Clark, Robin D., und Cynthia J. Curry. „Overgrowth“. In Genetic Consultations in the Newborn, herausgegeben von Robin D. Clark und Cynthia J. Curry, 17–24. Oxford University Press, 2019. http://dx.doi.org/10.1093/med/9780199990993.003.0003.
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This chapter reviews information on disorders that cause large birth weight, macrosomia, and/or segmental overgrowth. The most common of these conditions is seen in infants of diabetic mothers. Abnormal dosage of growth regulating genes make chromosomal microarray abnormalities a relatively common cause of overgrowth. Particularly notable is the distinctive Pallister Killian syndrome (12p tetrasomy). Other common overgrowth syndromes include Beckwith-Wiedemann syndrome, Sotos, Malan, and Weaver syndromes. The RASopathy syndromes including Noonan syndrome* and Costello syndrome are also often large at birth. Segmental overgrowth syndromes including Proteus and Klippel Trenaunay as well as PIK3CA related overgrowth (PROS) are discussed as well as their somatic mosaic origin in affected tissues. Clinical guidelines for evaluation and surveillance are outlined. The clinical case presentation features an infant with Sotos syndrome.
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„Seip syndrome“. In Dermatology Therapy, 527. Berlin, Heidelberg: Springer Berlin Heidelberg, 2004. http://dx.doi.org/10.1007/3-540-29668-9_2458.
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Gagliardi, Francesco. „A Cognitive Machine-Learning System to Discover Syndromes in Erythemato-Squamous Diseases“. In Advances in Healthcare Information Systems and Administration, 66–101. IGI Global, 2014. http://dx.doi.org/10.4018/978-1-4666-4619-3.ch005.
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A syndrome is a set of typical clinical features that appear together often enough to suggest they may represent a single, as yet unknown, disease. The discovery of syndromes and relative taxonomy formation is the critical early phase of the process of scientific discovery in the medical domain. The author proposes a machine learning system to discover syndromes (seen as prototypes of clinical cases) that is based on the Eleanor Rosch’s prototype theory on how the human mind categorizes and infers prototypes from observations. A comparison on a case study in erythemato-squamous diseases of the proposed system against three hierarchical clustering algorithms shows that the system obtains performances which are averagely better. The system implemented can be considered a “scientific discovery support system” because it can discover unknown syndromes to the advantage of research activities and syndromic surveillance.
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Rousset-Jablonski, C. „Contraception et prédispositions génétiques au risque de cancer du sein et/ou de l'ovaire (hors syndrome de Lynch)“. In La contraception en pratique, 168–73. Elsevier, 2024. http://dx.doi.org/10.1016/b978-2-294-78270-1.00033-8.
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Desai, Geetha, Santosh K. Chaturvedi und Dinesh Bhugra. „Cultural Spectrum of Chronic Pain and Somatization Syndromes“. In Overlapping Pain and Psychiatric Syndromes, herausgegeben von Geetha Desai, Santosh K. Chaturvedi und Dinesh Bhugra, 371–88. Oxford University Press, 2020. http://dx.doi.org/10.1093/med/9780190248253.003.0027.
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Chronic pain and somatization are common reasons for consultation in health settings, including psychiatric services, in India. These are often manifestations of underlying psychiatric illnesses such as depression, anxiety, and other stress-related disorders. Assessment of chronic pain and somatization is essential because it may be a means for the patient to communicate psychological distress, arising out of stress and conflicts within the environment. Sociocultural factors have an important role in the manifestations, help-seeking, and management of these chronic pain and somatizing syndromes. Some specific pain syndromes and somatizing syndromes are seen in India, including that syndrome, sinking heart syndrome, and a variety of somatic neuroses. The management of pain and somatizing syndromes requires a multidisciplinary approach, with an aim to reduce distress and enhance quality of life, in an ethical way.
Konferenzberichte zum Thema "Syndrome sein"
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Polychronidou, Eleftheria, Ilias Kalamaras, Kostantinos Votis und Dimitrios Tzovaras. „Towards visualizing primary Sjögren's Syndrome data from heterogeneous cohorts“. In SETN '18: 10th Hellenic Conference on Artificial Intelligence. New York, NY, USA: ACM, 2018. http://dx.doi.org/10.1145/3200947.3201040.
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Cracco, Luiz Augusto Fanhani, Marian Hanae Oda, Gustavo Koíti Kondo, Afonso Gomes de Oliveira, Augusto Luís Kienen, Laura Giacomini Sari, Felipe Carluccio Falavigna et al. „ANTI-GLOMERULAR BASEMENT MEMBRANE DISEASE (GOODPASTURE SYNDROME) COMMONLY REMEMBERED BUT RARELY SEEN“. In XL Congresso Brasileiro de Reumatologia. Sociedade Brasileiro de Reumatologia, 2023. http://dx.doi.org/10.47660/cbr.2023.1974.
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Admire, K. J., S. S. Aleem, A. N. Mahendra, S. Pourshahid, T. Uchel und M. R. Cossio. „Air Space Jam: Vanishing Lung Syndrome Seen in a Competitive Basketball Player“. In American Thoracic Society 2022 International Conference, May 13-18, 2022 - San Francisco, CA. American Thoracic Society, 2022. http://dx.doi.org/10.1164/ajrccm-conference.2022.205.1_meetingabstracts.a2048.
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Kokikian, Collette, Ann Ly und Lama Al-Khoury. „A rare case of Carotid Dissection seen in Vascular Eagle Syndrome (P3-5.024)“. In 2023 Annual Meeting Abstracts. Lippincott Williams & Wilkins, 2023. http://dx.doi.org/10.1212/wnl.0000000000203428.
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Li, Jianhua, Yueyang Teng, Shouliang Qi, Dayu Xiao, Lisheng Xu, Yan Kang und Jesse Li-Ling. „Pancreatic malformations as seen in congenital syndromes — Developmental perspective with an alternative view“. In 2016 IEEE International Conference on Information and Automation (ICIA). IEEE, 2016. http://dx.doi.org/10.1109/icinfa.2016.7831910.
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Diaz, C., C. Geli, C. Diaz-Torne, H. Corominas, M. Moreno, A. Rodriguez, JM Llobet und G. Vazquez. „FRI0230 Clinical presentation of 475 patients with primary sjÖgren’s syndrome who where seen by the rheumatologists“. In Annual European Congress of Rheumatology, Annals of the rheumatic diseases ARD July 2001. BMJ Publishing Group Ltd and European League Against Rheumatism, 2001. http://dx.doi.org/10.1136/annrheumdis-2001.323.
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Gurian, Jordana Gaudie, Maria Ondina Machado Diniz, Amanda Nascimento Bispo, Aline Boaventura Ferreira, Fernando Elias Borges und Ane Cristina Dunck. „Case report: stiff Person syndrome“. In XIV Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2023. http://dx.doi.org/10.5327/1516-3180.141s1.346.
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Introduction: The rigid person syndrome is rare, characterized by blockade of the GAD enzyme, responsible for inhibiting muscle contraction. Although it is not mandatory for the diagnosis, most patients are positive for Anti-GAD. Objectives: To report a case of rigid person syndrome seen at Hospital Geral de Goiânia. Methods: Information was obtained through clinical follow-up in a neurology ward and outpatient clinic. Results: Patient, female, 32 years old, complaining of paresthesia ascending to upper limbs, worsening over a period of six months with paresis with gait impairment, increased tone and muscle spasms. Patient with multiple consultations with a neurologist and psychiatrist, using polypharmacy. During hospitalization, the patient reported severe pain in the limbs. On examination, she had grade 3 strength and quadrisegmental hypertonia with intermittent periods of generalized spasm, exacerbated during periods of greater anxiety. Hypothesis of rigid person syndrome was raised and anti-GAD 1,680 results were obtained. The patient responded well with high doses of diazepam, baclofen and pregabalin. Conclusion: The case represents a definitive diagnosis of rigid person syndrome, a rare pathology that affects 1–2 patients per 1,000,000, mainly females. This study contributes to future research in this area since knowledge in this area is still scarce.
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Monteiro, Ana Karoline da Costa, Paulo Filho Soares Marcelino, Marcello Holanda de Andrade, Rairis Barbosa Nascimento, Marx Lincoln Lima de Barros Araújo und Samuel Pinheiro da Silva. „Fahr’s Syndrome: A Case Report“. In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.110.
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Context: Fahr’s syndrome is a clinical entity of primary or secondary causes characterized by neurological and/or psychiatric symptoms associated with abnormal calcifications in basal ganglia, cerebellum and cerebral cortex. Case report: G.M.A, female, 49 years-old, presented athetosis in the distal extremity of the right upper limb (RUL) in December 2020, without seeking for medical help. Known to be diabetic, hypertensive and with diastolic heart failure (HF), in February 2021 she presented decompensated HF associated with worsening of involuntary movements in the RUL. During investigation, abnormalities in serum levels of parathormone (PTH) and calcium were observed, in addition to bilateral calcifications in basal ganglia and thalamus in brain computed tomography (CT) without contrast. In March 2021, she was admitted to the University Hospital of the Federal University of Piauí, with maintenance of athetosis at the distal extremity of the RUL, in addition to oromandibular dyskinesia. Laboratory profile compatible with primary hypoparathyroidism and new brain CT without contrast with calcifications in basal ganglia and pulvinar of the thalamus, bilaterally, were confirmed. Intravenous calcium replacement and use of calcitriol were performed, with partial clinical improvement. Conclusions: Fahr’s syndrome is characterized by the presence of movement disorders (with highlights for parkinsonism and athetosis) and psychiatric symptoms (depression most commonly). Possible etiologies are primary (genetic) and secondary (mainly idiopathic or secondary hypoparathyroidism). Classic finding of symmetrical calcifications in base nuclei is seen on brain CT. Treatment is symptomatic and control of the underlying disease.
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Gupta, Swati, Saritha Shamsunder, Roli Purwar, Vidya Jha, A. K. Yadav, Sunita Malik, Rakesh Verma und S. P. Kataria. „Growing teratoma syndrome: A case report“. In 16th Annual International Conference RGCON. Thieme Medical and Scientific Publishers Private Ltd., 2016. http://dx.doi.org/10.1055/s-0039-1685323.
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Introduction: Growing teratoma syndrome (GTS) or chemotherapeutic retro conversion is an extremely rare phenomenon seen in about 1.9-7.6% of patients being treated for non-seminomatous testicular germ cell tumor. It is even more rarely reported in females with only sporadic cases reported so far. It was described by logothetis et al and is described as conversion of immature teratoma to mature one after chemotherapy and presents as growing and metastasizing mass. Case Report: We report a case of 10 year old girl who underwent conservative surgery for an adnexal mass reported as immature teratoma on histopathology. Following which she was given chemotherapy for rapidly developing ascites. After four cycles of chemotherapy, the pelvic mass increased in size with metastatic deposits around the liver. Re-laparotomy and removal of the ovarian mass and metastatic deposits was carried out in stages. The histopathology showed mature teratoma. Conclusion: GTS is an extremely rare occurrence and it is important for the clinicians to know it to avoid misdiagnosis. Moreover, being a chemo-resistant tumor, early diagnosis and surgery are curative.
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Paiva, Mateus Coelho, Ana Júlia Santana Dornelas, Anne Caroline Castro Pereira, Bruna Paiva de França, Camila Nakamura Perissê Pereira, Camila Taveira de Castro, Catherine Rezende Vitoi et al. „Complementary Exams for Dementia Diagnosis“. In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.269.
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Background: It is estimated that by 2050, over 130 million people will have dementia. These syndromes are neuropathologies that can be diagnosed with higher accuracy with a support of complementary exams. Objectives: Review literature about de importance of complementary exams for a better management of dementia syndromes. Methods: A search was carried out in the databases PubMed/MEDLINE, LILACS and Google Scholar using the DeCS descriptors: “dementia”, “mental status and dementia tests” and “diagnosis”. Nine articles, from 2005 to 2020, in English and Portuguese, were submitted to critical analysis. Results: A clinical evaluation, biomarkers and neuroimage techniques can improve diagnosis management of dementia syndromes. Changes in the early stages include memory loss. Therefore, Mini Mental State Exam can be used. The biomarkers include ß-amiloid and tau protein in the cerebrospinal fluid. Other exams can detect the lack of vitamin B12 and folate, hypothyroidism and infectious diseases. The computed tomography (CT) is fundamental to exclude secondary causes. In magnetic resonance the brain is seen atrophied. Conclusions: This review shows studies that indicate the relevance of complementary exams for the diagnosis of dementia. It could be seen that the association of molecular analysis and neuroimage can be benefic for a better diagnosis.
Berichte der Organisationen zum Thema "Syndrome sein"
1
Teja, Dr K. Pavana, Dr B. Indira und Dr Blessy Manohar. YOUNGS SYNDROME - A RARE INHERITED SYNDROME IN YOUNG MALE ADULTS. World Wide Journals, Februar 2023. http://dx.doi.org/10.36106/ijar/5408129.
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Youngs syndrome also known as azoospermia sinopulmonary infections,sinusitis -infertility syndrome and Barry - Perkins -Young syndrome is a rare, inherited syndrome commonly seen in middle aged men with chronic reccurent rhinosinusitis, bronchiectasis, infertility due to azoospermia. Diagnosis of youngs syndrome is based on the occurrence of early onset progression in adult life with the presence of clubbing, sinusitis, and cystic bronchiectasis1.Azoospermia is seen due to hypomotility and decreased sperm count.
2
Whitaker, Stephen. Rocky intertidal community monitoring at Channel Islands National Park: 2018–19 annual report. National Park Service, August 2023. http://dx.doi.org/10.36967/2299674.
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Channel Islands National Park includes the five northern islands off the coast of southern California (San Miguel, Santa Rosa, Santa Cruz, Anacapa, and Santa Barbara Islands) and the surrounding waters out one nautical mile. There are approximately 176 miles of coastline around the islands, about 80% of which is composed of rock. The diversity and undisturbed nature of the tidepools of this rocky coastline were recognized as special features of the islands in the enabling legislation. To conserve these communities unimpaired for future generations, the National Park Service has been monitoring the rocky intertidal communities at the islands since 1982. Sites were established between 1982 and 1998. Site selection considered visitation, accessibility, presence of representative organisms, wildlife disturbance, and safety. This report summarizes the 2018–2019 sampling year efforts (from November 2018 to April 2019) and findings of the Channel Islands National Park Rocky Intertidal Community Monitoring Program. Specific monitoring objectives are 1) to determine the long-term trends in percent cover of key sessile organisms in the rocky intertidal ecosystem, and 2) to determine population dynamics of black abalone (Haliotis cracherodii), owl limpets (Lottia gigantea), and ochre sea stars (Pisaster ochraceus). Objectives were met by monitoring percent cover of core species in target intertidal zones using photoplots and transects, and by measuring size frequency and abundance of black abalone, owl limpets, and sea stars using fixed plots or timed searches. Twelve key species or assemblages, as well as the substrate, tar, have been monitored twice per year at 21 sites on the five park islands as part of the rocky intertidal community monitoring program. Fixed photoplots were used to monitor the percent cover of thatched and acorn barnacles (Tetraclita rubescens, Balanus glandula/Chthamalus spp., respectively), mussels (Mytilus californianus), rockweeds (Silvetia compressa, and Pelvetiopsis californica (formerly Hesperophycus californicus), turfweed (Endocladia muricata), goose barnacles (Pollicipes polymerus) and tar. Point-intercept transects were used to determine the percent cover of surfgrass (Phyllospadix spp.). Information about size distribution (i.e., “size frequency” data) was collected for owl limpets in circular plots. Size distribution and relative abundance of black abalone and ochre sea stars were determined using timed searches. The maximum number of shorebirds and pinnipeds seen at one time were counted at each site. The number of concession boat visitors to the Anacapa tidepools was collected and reported. All sites were monitored in 2018–2019. This was the third year that we officially reduced our sampling interval from twice per year (spring and fall) to once in order to streamline the program and allow for the implementation of additional protocols. Weather conditions during the site visits were satisfactory, but high wind coupled with strong swell and surge limited or prevented the completion of some of the abalone and sea star searches. The percent cover for most key species or assemblages targeted in the photoplots was highly variable among sites. Mussel (Mytilus californianus) cover remained below average at Anacapa and Santa Barbara Islands. Record or near record low abundances for Mytilus were measured at Middle West Anacapa (Anacapa Island), Harris Point (San Miguel Island), Prisoner’s Harbor (Santa Cruz Island), and Sea Lion Rookery (Santa Barbara Island) sites. The only site that appeared to have above average Mytilus cover was Scorpion Rock on Santa Cruz Island. All other sites had mussel cover near or below the long-term mean. Qualitatively, Mytilus recruitment appeared low at most sites. Both rockweed species, Silvetia compressa and Pelvetiopsis californica (formerly Hesperophycus californicus), continued to decrease markedly in abundance this year at the majority of sites compared to combined averages for previous years. Fossil Reef and Northwest-Talcott on Santa Rosa Island, Sea Lion Rookery on Santa Barbara Island, and South Frenchy’s Cove on Anacapa Island were the only sites that supported Silvetia cover that was near the long-term mean. No sites exhibited above average cover of rockweed. Extremely high levels of recruitment for Silvetia and Pelvetiopsis were documented at many sites. Most sites exhibited marked declines in S. compressa abundances beginning in the early 2000s, with little recovery observed for the rockweed through this year. Barnacle (Chthamalus/Balanus spp.) cover fell below the long-term means at all islands except Anacapa, where barnacle cover was slightly above average. Endocladia muricata abundances remained comparable to the grand mean calculated for previous years at Santa Barbara, Santa Cruz, and Santa Rosa Islands, while cover of the alga decreased slightly below the long-term means at Anacapa and San Miguel Islands. Black abalone (Haliotis cracherodii) abundances at the islands remain less than one percent of 1985 population levels. Zero abalone were found throughout the entire site at Landing Cove on Santa Barbara Island and South Frenchy’s Cove on Anacapa Island. Above average abundances relative to the long-term mean generated from post-1995 data were observed at all but five sites. Juvenile black abalone were seen at all islands except Santa Barbara. Ochre sea star (Pisaster ochraceus) populations crashed in 2014 at all monitoring sites due to Sea Star Wasting Syndrome, an illness characterized by a suite of symptoms that generally result in death. The mortality event was widely considered to be the largest mortality event for marine diseases ever seen. Beginning in June 2013, the disease swiftly and significantly impacted P. ochraceus (among other species of sea stars) populations along the North American Pacific coast from Alaska to Baja California, Mexico. By the beginning of 2014, P. ochraceus abundances had declined by >95% at nearly all Channel Islands long-term intertidal monitoring sites, in addition to numerous other locations along the West Coast. At various times during the past decade, extremely high abundances (~ 500 P. ochraceus) have been observed at multiple sites, and most locations have supported >100 sea stars counted during 30-minute site-wide searches. This year, abundances ranged 0–13 individuals per site with all but one site having fewer than 10 P. ochraceus seen during routine searches. Insufficient numbers of sea stars were seen to accurately estimate the size structure of P. ochraceus populations. Only two juveniles (i.e., <50 mm) were observed at all sites combined. Giant owl limpet densities in 2018–2019 were comparable or slightly above the long-term mean at seven sites. Exceptionally high densities were measured at Northwest-Talcott on Santa Rosa Island, Otter Harbor on San Miguel Island, and Willows Anchorage on Santa Cruz Island. The sizes of L. gigantea this year varied among sites and islands. The smallest L. gigantea were observed at Otter Harbor followed closely by Willows Anchorage and Anacapa Middle West, and the largest were seen at Northwest-Talcott. Temporally, the mean sizes of L. gigantea in 2018–2019 decreased below the long-term mean at each island except Anacapa. Surfgrasses (Phyllospadix spp.) are typically monitored biannually at two sites each on Santa Cruz and Santa Rosa Islands. Beginning in 2015, all transects at each of the monitoring sites were only sampled once per year. At East Point on Santa Rosa Island, the conditions were not conducive to sampling the surfgrass transects, but qualitatively, percent cover of surfgrass appeared to be near 100% on all three transects. Relative to past years, cover of surfgrass increased above the long-term mean at Fraser Cove on Santa Cruz Island, fell slightly below the mean at Trailer on Santa Cruz Island, and remained approximately equivalent to the mean at the two Santa Rosa Island sites. Overall, the abundance and diversity of shorebirds in 2018–2019 at all sites appeared similar to observations made in recent years, with the exception of elevated numbers of brown pelicans (Pelecanus occidentalis) observed at East Point on Santa Rosa Island. Black oystercatchers (Haematopus bachmani) were the most ubiquitous shorebird seen at all sites. Black turnstones (Arenaria melanocephala) were not common relative to past years. Pinniped abundances remained comparable in 2018–2019 to historical counts for all three species that are commonly seen at the islands. Harbor seals (Phoca vitulina) were seen in the vicinity of eight sites this year. As in past years, harbor seals were most abundant at Otter Harbor and Harris Point on San Miguel Island. Elephant seals (Mirounga angustirostris) were seen at six sites during the year, where abundances ranged 1–5 individuals per location. California sea lions (Zalophus californianus) were common at Santa Barbara Island; 117 individuals were observed at Sea Lion Rookery. Sea lion abundances were higher than usual at Harris Point (N = 160) and Otter Harbor (N = 82) on San Miguel Island. Relative to past years, abundances this year were considered average at other locations.