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Sample records for jeune syndrome description

  1. Antenatal Diagnosis of Jeune Syndrome (Asphyxiating Thoracic Dysplasia) with Micromelia and Facial Dysmorphism on Second-Trimester Ultrasound

    International Nuclear Information System (INIS)

    Mistry, Kewal A.; Suthar, Pokhraj P.; Bhesania, Siddharth R.; Patel, Ankitkumar

    2015-01-01

    Jeune syndrome is a rare congenital malformation with a reported incidence of 1 in 100,000–130,000 live births. Thoracic hypoplasia is the most striking abnormality of this disorder. Here we report a case of Jeune syndrome with marked thoracic hypoplasia, micromelia and facial dysmorphism, which was diagnosed on a second-trimester antenatal real-time three-dimensional ultrasound. A 24-year-old primigravida came for routine anomaly scan at 19 weeks of gestation. Transabdominal grey scale and real time 3D ultrasound (US) was done with GE Logiq P5 with curvilinear array transducers (4C and 4D3C-L). US findings were consistent with the diagnosis of Jeune syndrome (Asphyxiating thoracic dysplasia). Jeune syndrome is an extremely rare congenital disorder with a spectrum of abnormalities of which thoracic hypoplasia is the most striking. It can be diagnosed on early antenatal US by its characteristic skeletal and morphological features which can guide further management of pregnancy in form of termination or preparation for surgical correction of the deformity

  2. Sternoplasty and rib distraction in neonatal Jeune syndrome.

    LENUS (Irish Health Repository)

    Conroy, Eimear

    2010-09-01

    A 12-week-old boy with Jeune syndrome (asphyxiating thoracic dystrophy) was referred to the orthopaedic unit with progressive respiratory failure, recurrent respiratory tract infections, and recurrent admissions to the intensive care unit for ventilatory support. His chest x-ray revealed a small and narrow thoracic cage with short broad ribs and abnormal costal cartilages. His chest expansion was impaired by the short, horizontally positioned ribs resulting in alveolar hypoventilation. Without surgical intervention to expand his thoracic cage, he would die of respiratory failure.

  3. Primary presentation of Jeune's syndrome as gastric motility disorder in an infant: A case report

    Directory of Open Access Journals (Sweden)

    Amit Katyan

    2018-01-01

    Full Text Available We report a case of a 4-week-old female neonate with Jeune's asphyxiating thoracic dystrophy (JATD and coexistent situs anomaly, primarily presenting as gastric motility disorder. The child presented with abdominal distension and nonbilious vomiting since birth with failure to thrive. However, skeletal survey revealed JATD. Upper gastrointestinal contrast study showed situs inversus with delayed gastric emptying. Pyloric biopsy and intraoperative antro-duodenal manometry confirmed association of gastric motility disorder. Awareness of the unusual possibility of primary presentation of Jeune syndrome as gastric motility disorder will improve the management approach in such infants.

  4. One-stage sequential bilateral thoracic expansion for asphyxiating thoracic dystrophy (Jeune syndrome).

    Science.gov (United States)

    Muthialu, Nagarajan; Mussa, Shafi; Owens, Catherine M; Bulstrode, Neil; Elliott, Martin J

    2014-10-01

    Jeune syndrome (asphyxiating thoracic dystrophy) is a rare disorder characterized by skeletal dysplasia, reduced diameter of the thoracic cage and extrathoracic organ involvement. Fatal, early respiratory insufficiency may occur. Two-stage lateral thoracic expansion has been reported, addressing each side sequentially over 3-12 months. While staged repair theoretically provides less invasive surgery in a small child with respiratory distress, we utilized a single stage, bilateral procedure aiming to rapidly maximize lung development. Combined bilateral surgery also offered the chance of rapid recovery, and reduced hospital stay. We present our early experience of this modification of existing surgical treatment for an extremely rare condition, thought to be generally fatal in early childhood. Nine children (6 males, 3 females; median age 30 months [3.5-75]) underwent thoracic expansion for Jeune syndrome in our centre. All patients required preoperative respiratory support (5 with tracheostomy, 8 requiring positive pressure ventilation regularly within each day/night cycle). Two children underwent sequential unilateral (2-month interval between stages) and 7 children bilateral thoracic expansion by means of staggered osteotomies of third to eighth ribs and plate fixation of fourth to fifth rib and sixth to seventh rib, leaving the remaining ribs floating. There was no operative mortality. There were 2 deaths within 3 months of surgery, due to pulmonary hypertension (1 following two-stage and 1 following single-stage thoracic expansion). At the median follow-up of 11 months (1-15), 3 children have been discharged home from their referring unit and 2 have significantly reduced respiratory support. One child remains on non-invasive ventilation and another is still ventilated with a high oxygen requirement. Jeune syndrome is a difficult condition to manage, but bilateral thoracic expansion offers an effective reduction in ventilator requirements in these children

  5. Short-Rib Polydactyly and Jeune Syndromes Are Caused by Mutations in WDR60

    Science.gov (United States)

    McInerney-Leo, Aideen M.; Schmidts, Miriam; Cortés, Claudio R.; Leo, Paul J.; Gener, Blanca; Courtney, Andrew D.; Gardiner, Brooke; Harris, Jessica A.; Lu, Yeping; Marshall, Mhairi; Scambler, Peter J.; Beales, Philip L.; Brown, Matthew A.; Zankl, Andreas; Mitchison, Hannah M.; Duncan, Emma L.; Wicking, Carol

    2013-01-01

    Short-rib polydactyly syndromes (SRPS I–V) are a group of lethal congenital disorders characterized by shortening of the ribs and long bones, polydactyly, and a range of extraskeletal phenotypes. A number of other disorders in this grouping, including Jeune and Ellis-van Creveld syndromes, have an overlapping but generally milder phenotype. Collectively, these short-rib dysplasias (with or without polydactyly) share a common underlying defect in primary cilium function and form a subset of the ciliopathy disease spectrum. By using whole-exome capture and massive parallel sequencing of DNA from an affected Australian individual with SRPS type III, we detected two novel heterozygous mutations in WDR60, a relatively uncharacterized gene. These mutations segregated appropriately in the unaffected parents and another affected family member, confirming compound heterozygosity, and both were predicted to have a damaging effect on the protein. Analysis of an additional 54 skeletal ciliopathy exomes identified compound heterozygous mutations in WDR60 in a Spanish individual with Jeune syndrome of relatively mild presentation. Of note, these two families share one novel WDR60 missense mutation, although haplotype analysis suggested no shared ancestry. We further show that WDR60 localizes at the base of the primary cilium in wild-type human chondrocytes, and analysis of fibroblasts from affected individuals revealed a defect in ciliogenesis and aberrant accumulation of the GLI2 transcription factor at the centrosome or basal body in the absence of an obvious axoneme. These findings show that WDR60 mutations can cause skeletal ciliopathies and suggest a role for WDR60 in ciliogenesis. PMID:23910462

  6. Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60.

    Science.gov (United States)

    McInerney-Leo, Aideen M; Schmidts, Miriam; Cortés, Claudio R; Leo, Paul J; Gener, Blanca; Courtney, Andrew D; Gardiner, Brooke; Harris, Jessica A; Lu, Yeping; Marshall, Mhairi; Scambler, Peter J; Beales, Philip L; Brown, Matthew A; Zankl, Andreas; Mitchison, Hannah M; Duncan, Emma L; Wicking, Carol

    2013-09-05

    Short-rib polydactyly syndromes (SRPS I-V) are a group of lethal congenital disorders characterized by shortening of the ribs and long bones, polydactyly, and a range of extraskeletal phenotypes. A number of other disorders in this grouping, including Jeune and Ellis-van Creveld syndromes, have an overlapping but generally milder phenotype. Collectively, these short-rib dysplasias (with or without polydactyly) share a common underlying defect in primary cilium function and form a subset of the ciliopathy disease spectrum. By using whole-exome capture and massive parallel sequencing of DNA from an affected Australian individual with SRPS type III, we detected two novel heterozygous mutations in WDR60, a relatively uncharacterized gene. These mutations segregated appropriately in the unaffected parents and another affected family member, confirming compound heterozygosity, and both were predicted to have a damaging effect on the protein. Analysis of an additional 54 skeletal ciliopathy exomes identified compound heterozygous mutations in WDR60 in a Spanish individual with Jeune syndrome of relatively mild presentation. Of note, these two families share one novel WDR60 missense mutation, although haplotype analysis suggested no shared ancestry. We further show that WDR60 localizes at the base of the primary cilium in wild-type human chondrocytes, and analysis of fibroblasts from affected individuals revealed a defect in ciliogenesis and aberrant accumulation of the GLI2 transcription factor at the centrosome or basal body in the absence of an obvious axoneme. These findings show that WDR60 mutations can cause skeletal ciliopathies and suggest a role for WDR60 in ciliogenesis. Copyright © 2013 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  7. Espaces socio-educatifs et regard des jeunes : pourquoi les jeunes ...

    African Journals Online (AJOL)

    Espaces socio-educatifs et regard des jeunes : pourquoi les jeunes se sentent-ils exclus des musees ? G. A. G. Gbaguidi, C.N. Codo. Abstract. Les musées constituent des espaces éducatifs par excellence qui favorisent l'adaptation des jeunes dans la vie sociale et donc facilite « l'établissement des liens sociaux » de part ...

  8. Espaces socio-educatifs et regard de jeunes : pourquoi les jeunes ...

    African Journals Online (AJOL)

    Espaces socio-educatifs et regard de jeunes : pourquoi les jeunes se sentent-ils exclus des musees ? G.A.G. Gbaguidi, C.N. Codo. Abstract. Les musées constituent des espaces éducatifs par excellence qui favorisent l'adaptation des jeunes dans la vie sociale et donc facilite « l'établissement des liens sociaux » de part la ...

  9. Cauli: a mouse strain with an Ift140 mutation that results in a skeletal ciliopathy modelling Jeune syndrome.

    Directory of Open Access Journals (Sweden)

    Kerry A Miller

    2013-08-01

    Full Text Available Cilia are architecturally complex organelles that protrude from the cell membrane and have signalling, sensory and motility functions that are central to normal tissue development and homeostasis. There are two broad categories of cilia; motile and non-motile, or primary, cilia. The central role of primary cilia in health and disease has become prominent in the past decade with the recognition of a number of human syndromes that result from defects in the formation or function of primary cilia. This rapidly growing class of conditions, now known as ciliopathies, impact the development of a diverse range of tissues including the neural axis, craniofacial structures, skeleton, kidneys, eyes and lungs. The broad impact of cilia dysfunction on development reflects the pivotal position of the primary cilia within a signalling nexus involving a growing number of growth factor systems including Hedgehog, Pdgf, Fgf, Hippo, Notch and both canonical Wnt and planar cell polarity. We have identified a novel ENU mutant allele of Ift140, which causes a mid-gestation embryonic lethal phenotype in homozygous mutant mice. Mutant embryos exhibit a range of phenotypes including exencephaly and spina bifida, craniofacial dysmorphism, digit anomalies, cardiac anomalies and somite patterning defects. A number of these phenotypes can be attributed to alterations in Hedgehog signalling, although additional signalling systems are also likely to be involved. We also report the identification of a homozygous recessive mutation in IFT140 in a Jeune syndrome patient. This ENU-induced Jeune syndrome model will be useful in delineating the origins of dysmorphology in human ciliopathies.

  10. Les lexiques des jeunes dans les discours écrits des blogs : pour une approche descriptive

    Directory of Open Access Journals (Sweden)

    Lorenz Paulina

    2014-07-01

    Full Text Available S’il ne faut pas confondre ce qui est appelé communément « langage SMS » et « langage des jeunes », nous avancerons toutefois que les pratiques langagières écrites des jeunes sur les supports modernes de communication, et notamment dans les blogs, présentent des particularités encore peu étudiées. Les traits observables les plus saillants sont ceux de la morphologie graphique, mais il n’en reste pas moins que certains jeunes utilisent des lexiques particuliers dans les blogs qui méritent une attention particulière. Nous nous proposons donc d’étudier les différents lexiques utilisés par des jeunes de 12 à 22 ans dans les blogs de la plateforme skyrock.com aux niveaux de sa diversité, de ses usages sémantiques variable d’un scripteur à l’autre pour un même mot, et de ses particularités morphosyntaxiques. En effet, nous observerons des lexiques divers allant des lexiques perçus comme relevant des cités à des lexiques perçus comme étant « branchés-jeunes », ou encore à des lexiques propres aux supports modernes de communication. Ainsi, nous analyserons des lexiques variés dans leurs usages écrits tels que bolos, bédave, gérer, ouf, tigen, ou encore des lexiques empruntés tels que mouv, full, etc., ainsi que des emplois particuliers de séquences autonomes comme lol. Quelques questions périphériques complèteront notre analyse telle que celles qui concerne l’influence des usages lexicaux entre pairs et le savoir partagé, la distinction de différentes communautés en fonction des lexiques utilisés, ou encore la variabilité des représentations graphiques d’un même mot.

  11. Jeunes agripreneurs : Élargir les possibilités pour les jeunes dans le ...

    International Development Research Centre (IDRC) Digital Library (Canada)

    activités agro-alimentaires en vue d'assurer la transformation agricole et l'emploi des jeunes en Afrique. Ce projet déterminera, élaborera et mettra à l'essai sur le terrain des modèles d'entreprise créatifs et audacieux pour aider les jeunes ...

  12. Jeunes, pauvreté et utilisation des TIC - nouvelles sphères ...

    International Development Research Centre (IDRC) Digital Library (Canada)

    Or, le pays affiche le quatrième plus haut taux de violence chez les jeunes dans le monde, et les homicides demeurent la principale cause de décès chez les jeunes adultes. Les jeunes des ... Digital Media. In Chile, a mobilized, invigorated civil society is using new digital technologies to transform political participation.

  13. Le parcours migratoire de jeunes ruraux du bled du kif

    Directory of Open Access Journals (Sweden)

    Khalid Mouna

    2015-06-01

    Full Text Available Cet article analyse le parcours migratoire des jeunes ruraux originaires des zones de production du cannabis, jeunes qui cherchent à briser les chaînes de soumission et d’humiliation vécues au quotidien. Pour les jeunes concernés par notre étude, la migration constitue un moyen de s’intégrer dans des réseaux transnationaux et ainsi d’entamer une carrière de beznass (commerçant du cannabis. Ce parcours « initiatique » permet à ces jeunes de revenir au bled avec de nouvelles idées, des moyens accrus, et de jouer un rôle actif dans l’économie locale – qui reste pour eux focalisée sur la production de cannabis, cette dernière restant néanmoins officiellement interdite.

  14. La situation des jeunes universitaires et scientifiques en Afrique ...

    International Development Research Centre (IDRC) Digital Library (Canada)

    analyseront la productivité et les incidences sur les citations de jeunes scientifiques; - feront un relevé de leurs perspectives de carrière; - examineront comment les organismes subventionnaires appuient les jeunes scientifiques. Ce travail permettra à l'équipe de recherche d'avoir un aperçu complet du système de ...

  15. Emploi et migration des jeunes en Afrique de l'Ouest | CRDI - Centre ...

    International Development Research Centre (IDRC) Digital Library (Canada)

    Emploi et migration des jeunes en Afrique de l'Ouest. Le projet vise à aider les pays d'Afrique de l'Ouest à se doter de politiques fondées sur une meilleure connaissance à la fois des raisons pour lesquelles les jeunes quittent les zones rurales, et des activités économiques qu'ils exercent en ville. Nombreux sont les jeunes ...

  16. Caractéristiques cliniques des jeunes déprimés en pédopsychiatrie

    Science.gov (United States)

    Breton, Jean-Jacques; Labelle, Réal; Huynh, Christophe; Berthiaume, Claude; St-Georges, Marie; Guilé, Jean-Marc

    2012-01-01

    Résumé Objectif Décrire le profil clinique de jeunes déprimés selon le groupe d’âge et le sexe. Méthodologie L’étude a été réalisée à l’aide d’une grille d’analyse sur 75 dossiers de jeunes de 6–17 ans enregistrés en pédopsychiatrie en 2002–2003 et présentant un diagnostic de trouble dépressif. Des statistiques descriptives et des tests d’association pour comparer les garçons 6–11 ans, les garçons 12–17 ans et les filles 12–17 ans ont été complétés. Résultats Un jeune sur deux à l’adolescence a doublé une année scolaire. Près de 60% des garçons de 6–11 ans déprimés sont dirigés en pédopsychiatrie pour des difficultés comportementales et 71% des garçons de ce groupe d’âge présentent un trouble dépressif en comorbidité avec un trouble du comportement perturbateur. Les filles et garçons à l’adolescence présentent en plus grande proportion une symptomatologie intériorisée. Les idées suicidaires sont cependant aussi présentes chez les enfants (71%) que chez les adolescents (72%) et les adolescentes (85%). Les problèmes parent-enfant se retrouvent chez la majorité des jeunes, particulièrement chez les adolescentes. Conclusion Il est tout aussi important d’évaluer la dépression et l’idéation suicidaire chez les jeunes garçons avec troubles de comportement que chez les adolescents et les adolescentes et la dimension familiale est importante à considérer dans l’évaluation et le traitement. PMID:22299011

  17. Des emplois décents pour les jeunes Péruviens | CRDI - Centre de ...

    International Development Research Centre (IDRC) Digital Library (Canada)

    27 avr. 2016 ... En Amérique latine, on a besoin de toute urgence de recherches rigoureuses et d'orientations en matière de politiques pour pouvoir s'attaquer aux défis associés à l'emploi chez les jeunes. Dans cette région, près de 9 millions de jeunes sont au chômage. En outre, deux jeunes travailleurs sur trois ...

  18. Les representations sociales des musees par les jeunes de la ...

    African Journals Online (AJOL)

    La participation culturelle des jeunes reste un élément fondamental de la vie sociale. Ainsi, les musées sont des institutions culturelles qui contribuent à cette perspective. Mais, il est à constater que les visites muséales sont presque absentes des activités culturelles des jeunes. Le présent article propose une analyse des ...

  19. L'emploi des jeunes en Afrique subsaharienne : bilan des lacunes ...

    International Development Research Centre (IDRC) Digital Library (Canada)

    13 janv. 2016 ... Ce document présente une vue d'ensemble du problème de l'emploi des jeunes en Afrique subsaharienne. Il offre un aperçu de la situation globale sur le plan économique et de l'emploi dans la région et fait le bilan de ce que l'on sait – et de ce qu'on ne sait pas – au sujet de l'emploi des jeunes. Il résume ...

  20. L'emploi des jeunes au coeur de la croissance | CRDI - Centre de ...

    International Development Research Centre (IDRC) Digital Library (Canada)

    12 mars 2015 ... La segmentation démographique est incontestable : alors que la population des pays industrialisés vieillit, celle des pays en développement est essentiellement jeune. En Afrique, par exemple, près de 70 % de la population est âgée de moins de 30 ans, et exploiter le potentiel que recèle cette jeune ...

  1. Rôle des jeunes dans le monde arabe et espoirs de changement ...

    International Development Research Centre (IDRC) Digital Library (Canada)

    Les jeunes Arabes (de 15 à 29 ans) représentent le plus vaste groupe d'âge de la population, mais ils sont mal organisés et manquent de structures pour soutenir des programmes et se regrouper en réseaux. Les regroupements de jeunes existants sont presque tous liés à des partis politiques ou au gouvernement et ...

  2. Réduire la violence chez les jeunes en Côte d'Ivoire

    International Development Research Centre (IDRC) Digital Library (Canada)

    Le parcours des jeunes vers la criminalité. La recherche a permis de déterminer plusieurs facteurs qui entraînent les jeunes vers la violence. La pauvreté grandissante, les conflits qui sévissent, l'inadéquation des logements et la planification urbaine chaotique font en sorte que les enfants les plus vulnérables de la Côte ...

  3. Intéresser les jeunes à la chose publique | CRDI - Centre de ...

    International Development Research Centre (IDRC) Digital Library (Canada)

    22 oct. 2010 ... Les gouvernements ont tout intérêt à faire appel à la solidarité naturelle des jeunes en les consultant et en les amenant à participer aux processus de prise ... Dans un pays comme dans l'autre, cependant, les jeunes votent peu, et ce, en dépit du vote obligatoire au Brésil (au risque d'être mis à l'amende) et ...

  4. Comportements Sexuels parmi les Adolescents et Jeunes

    African Journals Online (AJOL)

    AJRH Managing Editor

    Cette étude a comme objectif spécifique d'analyser les prévalences des comportements sexuels à risque et leurs facteurs sociaux dans les pays francophones d'Afrique subsaharienne parmi les adolescents et jeunes, en mettant en exergue les diversités entre pays. Les données utilisées sont celles des Enquêtes ...

  5. Contribution clinico-psychologique à l'étude de la schizophrénie des jeunes

    Directory of Open Access Journals (Sweden)

    M. Schachter

    1955-09-01

    Full Text Available Nous présentons l'observation clinique et psychologique d'un jeune homme atteint d'un syndrome schizophrénique; l'étude montre qu'à la puberté il présentait déjà une série de manifestations rentrant dans la sphère du comportement schizophréniforme. Alors, l'examen clinique laissait la porte ouverte à des interpretations libérales, quant à la validité du diagnostic; on aurait pu considérér alors le jeune pubertaire comme un caractériel ou comme un sujet plus ou moins original. Au test de Rorschach pratiqué à ce moment, l'ensemble des constatations faites démontrait l'existence indiscutable d'un attachement net avec l'ambiance. Par contre, à l'âge de 18 ans 9 mois, le tableau schizophrénique est cliniquement indiscutable. Au Rorschach on note des modifications três nombreuses, três significatives (surtout en ce qui concerne la dissolution et la disparition des facteurs de la syntonie. Cependant, le test ne présente pas les caractères considérés comme "spécifiques" de la schizophrénic C'est, par contre, dans le test projectif de van Lennep que la nature dissociative du tableaux clinique fut démontrée de façon claire et nette.

  6. Résoudre le problème de l'emploi des jeunes en Afrique | CRDI ...

    International Development Research Centre (IDRC) Digital Library (Canada)

    17 déc. 2015 ... L'emploi des jeunes est l'un des défis les plus pressants auxquels est confrontée l'Afrique subsaharienne. L'ONU estime que le groupe des jeunes de 15 à 24 ans augmentera d'environ six millions par année au cours de la prochaine décennie; d'ici 2050, l'âge médian sera à peine de 24 ans. La plupart ...

  7. Accroître l'inclusion financière pour les femmes et les jeunes ...

    International Development Research Centre (IDRC) Digital Library (Canada)

    Accroître l'inclusion financière pour les femmes et les jeunes vulnérables : Proyecto Capital. L'accès à des services financiers officiels peut aider les personnes les plus pauvres du monde à échapper à la pauvreté et à réduire leur vulnérabilité. Ce projet aidera à accroître la sécurité économique de femmes et de jeunes ...

  8. Créer des possibilités d'emploi pour les jeunes en Afrique de l'Est ...

    International Development Research Centre (IDRC) Digital Library (Canada)

    adéquation des besoins des employeurs du secteur privé avec les compétences offertes par les jeunes, et la facilitation de partenariats pour créer un système collaboratif et connecté qui met l'accent sur les besoins des jeunes.

  9. La situation des jeunes universitaires et scientifiques en Afrique ...

    International Development Research Centre (IDRC) Digital Library (Canada)

    ... les ressources (soutien financier), les mesures incitatives en matière de rendement de la recherche, la structure et la gouvernance du système de recherche et les questions de mobilité, dont l'exode des cerveaux. Les chercheurs : - analyseront la productivité et les incidences sur les citations de jeunes scientifiques;

  10. Les litiges fonciers et la marginalisation des jeunes stimulent le ...

    International Development Research Centre (IDRC) Digital Library (Canada)

    28 avr. 2016 ... Selon de nouvelles recherches, la violence chez les jeunes et les litiges fonciers, qui ont migré des communautés rurales aux quartiers pauvres des villes, sont les principaux vecteurs de violence et de criminalité en Côte d'Ivoire.

  11. S'attaquer au chômage chez les jeunes en Éthiopie grâce au ...

    International Development Research Centre (IDRC) Digital Library (Canada)

    Le chômage chez les jeunes constitue un problème de taille aussi bien pour les pays industrialisés que pour les pays en développement. L'Éthiopie ne fait pas exception. Quels sont les politiques et les programmes qui favorisent l'emploi des jeunes et quel rôle le secteur privé peut-il jouer à cet égard ? Le présent projet ...

  12. Le retour des jeunes diplômés en zone rurale au Maroc: Quelles interactions entre trajectoires individuelles et projets collectifs ?

    Directory of Open Access Journals (Sweden)

    Nabila Aroussi Bachari

    2015-06-01

    Full Text Available l y a, dans les zones rurales du Maroc, une présence de plus en plus affirmée de jeunes diplômés. Ces jeunes peuvent jouer un rôle important pour le développement de ces zones rurales, mais à condition de se construire un rôle économique et social, qui leur permette de fonder un projet de vie en zone rurale. L’étude porte sur 11 jeunes diplômés qui ont initié des projets collectifs en zone rurale dans la province de Séfrou, grâce à des financements publics. Nous étudions les interactions entre les trajectoires individuelles de ces jeunes diplômés et leur projet collectif. Ces jeunes ont étudié voire travaillé pendant un temps en ville avant d’initier un projet collectif en zone rurale, à la fois du fait des difficultés d’insertion en ville mais aussi pour contribuer au développement de leur douar d’origine. Les projets de ces jeunes peuvent être d’ordre purement économique (coopérative de séchage de prune par exemple ou bien d’animation rurale. Plusieurs des jeunes enquêtés sont actifs à la fois dans la sphère économique et dans l’animation rurale, et jugent ces deux acticités comme complémentaires et non en opposition. Ces projets collectifs offrent à leur tour des opportunités de « projets de vie » en zone rurale pour ces jeunes. Si la capacité de ces projets de générer un revenu stable est un critère fort pour que ces jeunes se construisent un tel projet de vie en zone rurale, le rôle d’animateur de développement rural est aussi un élément important. Ces différents projets ont obtenu des financements publics de différents types qui ont, dans deux des quatre cas étudiés, explicitement pris en compte la présence de jeunes diplômés dans les projets. Cependant, ces financements ont souvent été accordés dans le cadre de démarches ponctuelles, qui pourraient être menées de façon plus institutionnalisée.

  13. Mécanismes de gouvernance et justice inclusifs ciblant les jeunes ...

    International Development Research Centre (IDRC) Digital Library (Canada)

    engagement actif des jeunes dans la prévention de l'extrémisme violent dans deux États membres de l'Inter-Governmental Authority for Development (IGAD) : au Kenya et en Ouganda. L'impact global consisterait à créer une situation dans laquelle les ...

  14. Excision Les jeunes changent l'Afrique par les TIC

    International Development Research Centre (IDRC) Digital Library (Canada)

    Comité Inter-Africain sur les Pratiques Traditionnelles ayant effet sur la santé des ... Planche 7 - Perception genrée de la citoyenneté : les dire des femmes. 90 ...... dans le monde avec les migrations internationales, l'excision ne semble pas être ...... En utilisant les TIC pour exprimer leurs attentes et leurs besoins, les jeunes, ...

  15. Mobiliser les jeunes, enraciner la démocratie

    International Development Research Centre (IDRC) Digital Library (Canada)

    C'est là où la lutte en faveur de la démocratie prend sa source. Patrick Watson, auteur et homme de télévision canadien. Ricardo Funari / BrazilPhotos.com. LA RECHERCHE BIEN ... Mais ce n'est qu'un côté de la médaille, car il y a aussi beaucoup de .... Les jeunes associent violence et criminalité à une foule d'autres.

  16. Les projets des jeunes ruraux : des stratégies diversifiées pour accéder au foncier et obtenir l’appui de l’Etat

    Directory of Open Access Journals (Sweden)

    Zhour Bouzidi

    2015-06-01

    Full Text Available Les initiatives publiques au Maroc n’offrent que très peu d’appuis spécifiquement dédiés aux jeunes ruraux. Cependant, certains jeunes réussissent à bénéficier de financements publics, tels que l’Initiative Nationale pour le Développement Humain ou le pilier II du Plan Maroc Vert, pour réaliser leurs projets. L’objectif de cet article est de caractériser la diversité des stratégies mises en place par ces jeunes pour accéder à l’appui de l’État. Nous avons pris l’exemple de l’accès au foncier, qui constitue une des obstacles auxquels sont confrontés les jeunes ruraux. Nous avons identifié trois types de projets : i des projets sans accès au foncier ; ii des projets où les jeunes s’arrangent avec un propriétaire de terre pour accéder au foncier ; et iii des projets où les jeunes sécurisent un droit propre d’accès au foncier. Si l’accès sécurisé au foncier permet aux jeunes d’obtenir une marge de manoeuvre importante dans la conception de leurs projets, en revanche leur autonomie est réduite pour les projets avec un accès négocié à la terre. Ce faisant, les projets hors sol constituent une voie de contournement de la contrainte foncière, mais font face à un ensemble de problèmes spécifiques. Bien que l’appui de l’État ne soit accessible qu’à peu de jeunes, les projets analysés créent des opportunités d’emploi et permettent de renforcer l’attachement des jeunes au milieu rural. Enfin, cet article propose des pistes pour améliorer l’accès des jeunes aux ressources productives (terre, eau, capital et mettre en place un appui efficient et adapté à leurs ambitions et leurs projets.

  17. Regards critiques des jeunes Marocains sur leur place dans la vie politique nationale et les mobilités vers l’Europe

    Directory of Open Access Journals (Sweden)

    Zoubir Chattou

    2015-06-01

    Full Text Available L’objet de cet article est d’expliciter les aspirations politiques des jeunes au Maroc et leurs perceptions des mobilités transnationales. Rappelons que la thématique de la jeunesse a suscité un intérêt particulier ces dernières années au sein de ce Maroc en mouvement. En effet, le Pays connaît des changements profonds au niveau politique, économique, démographique et socioculturel qui ont incontestablement affecté les perceptions des jeunes selon la diversité de leurs profils. Ces changements touchent également les structures de pouvoir, les organisations de la société civile, les droits humains et l’évolution des rapports Nord/Sud. Il s’agit donc dans ce travail de saisir le regard critique des jeunes interviewés de l’ordre national et de ses articulations avec le niveau mondial. Ceci rend plus visible leur revendication d’une citoyenneté effective à la fois à l’échelle nationale et mondiale. Plusieurs focus groupes de jeunes (65 jeunes lycéens et du supérieur d’origines rurale et citadine ont été organisés dans le cadre de cette étude.

  18. Jeunes et stratégies de résilience à la violence et à la criminalité en ...

    International Development Research Centre (IDRC) Digital Library (Canada)

    L'objectif général de ce projet est de contribuer à rompre le cycle de production de violence et de criminalité chez les jeunes à travers une meilleure compréhension des facteurs et stratégies de résilience des jeunes et de leurs communautés contre ces violences en Afrique de l'Ouest et en particulier au Burkina Faso et au ...

  19. Sélection et utilisation de l'habitat par les jeunes stades de poissons d'eau courante : le modèle Ombre commun (Thymallus thymallus, L.

    Directory of Open Access Journals (Sweden)

    SEMPESKI P.

    1995-04-01

    Full Text Available L'Ombre commun a servi de modèle biologique dans le cadre de l'étude de la dynamique des changements d'habitats caractérisant les jeunes stades de poissons d'eau courante. Des campagnes d'observations directes, depuis la berge ou en plongée, de jour comme de nuit, associées à des descriptions de l'habitat physique et des prélèvements de poissons et de faune invertébrée benthique et dérivante, ont permis une analyse fine de la sélection et de l'utilisation de l'habitat par les jeunes stades d'ombre et de leur évolution à différentes échelles spatio-temporelles. Différents groupes fonctionnels ont pu être distingués parmi les stades larvaires et juvéniles, en fonction des microhabitats sélectionnés de jour (alimentation et de nuit (repos, et des différentes stratégies de sélection des proies.

  20. Participation des jeunes femmes à la vie politique en Tunisie ...

    International Development Research Centre (IDRC) Digital Library (Canada)

    Les chercheurs tenteront de comprendre en quoi le parcours personnel des jeunes femmes influe sur le passage d'une disposition envers l'engagement politique (habitus) à une participation active. Ils rendront compte de la façon dont l'âge, le sexe et le contexte sociopolitique général influent sur la participation politique ...

  1. Promouvoir l'entrepreneuriat inclusif des jeunes et des femmes ...

    International Development Research Centre (IDRC) Digital Library (Canada)

    Le projet vise à analyser la contribution réelle et potentielle de l'entrepreneuriat inclusif au bien-être des jeunes et des femmes en Côte d'Ivoire, au Burkina Faso et au Kenya. Après un état des lieux de la pratique de l'entrepreneuriat inclusif dans chacun des pays ciblés, l'équipe de recherche étudiera son incidence sur ...

  2. [Malformation syndromes in the spanish literature: The first descriptions].

    Science.gov (United States)

    García Nieto, V; Zafra Anta, M; Bassat, Q; de Arana Amurrio, J I; Fernández Menéndez, J M; Fernández Teijeiro, J J; Gorrotxategi Gorrotxategi, P J; Ponte Hernando, F

    2013-12-01

    Malformation or dysmorphic syndromes are conditions that are defined by the combination of a set of major and minor malformations that generally have a genetic origin. We investigated the early Spanish descriptions of a large number of sydromes. We started the study from the definition in a classic treatise on the subject. Among the 60 selected syndromes studied, at least two articles of each syndrome among those published in Spain and for the first time were listed in the Spanish Medical Index. For years prior to 1970, it expanded The search was expanded to PubMed, for the years before 1970. We collected 64 articles that referred to 58 syndromes. Four articles were written during the first half of the twentieth century. Almost half of the works (n=30) appeared in the 1970's. The papers were published in ten Spanish pediatric, nine Spanish non-pediatric, three pediatric non-Spanish and two non-Spanish non-pediatric Journals. The Journals with the most articles published were Anales de Pediatría y Revista Española de Pediatría. The hospitals where the articles originate more often were Hospital La Paz, Madrid and Hospital Clinic, Barcelona. The rest of the works were written in 30 pediatric hospitals and two more in non-Spanish hospitals. The number of authors increased with the passage of time. Although there were potential limitations, we have identified what may be the first descriptions of 58 syndromes, among the 60 chosen initially. Copyright © 2012 Asociación Española de Pediatría. Published by Elsevier Espana. All rights reserved.

  3. "Jeunes de cités": Délinquance, émeutes et radicalisation islamiste

    Directory of Open Access Journals (Sweden)

    Gérard Mauger

    Full Text Available Résumé Pour rendre compte sociologiquement de l'ancrage de la délinquance, des violences urbaines et de la radicalisation islamiste dans une fraction des jeunes de cités, on étudie d'abord la crise de reproduction des classes populaires associée aux transformations du marché du travail, du système scolaire, de l'espace résidentiel, de l'encadrement des jeunes de cités, puis, en resserrant la focale de l'observation, la sociogenèse de la culture de rue (des héritages du pauvre à l'échec scolaire, l'investissement dans la culture de rue et l'inemployabilité, pour se focaliser enfin sur le monde des bandes et le milieu de la délinquance professionnelle, les pratiques émeutières et le revival des pratiques religieuses.

  4. L’émoi des demoiselles en voyage. Du voyage dans quelques journaux intimes de jeunes filles du XIXe siècle

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    Martine Sonnet

    2012-06-01

    Full Text Available Le corpus de journaux intimes de jeunes filles du XIXe siècle constitué par Philippe Lejeune (Le moi des demoiselles : enquête sur le journal de jeune fille, 1993 se prête à une lecture  mettant en évidence la rupture provoquée par le voyage dans le terne ordinaire des jours de jeunes bourgeoises ou de jeunes aristocrates. Une trentaine de journaux évoquant des voyages dévoilent l’ambivalence des émotions que suscitent des déplacements, toujours accomplis sous bonne escorte, remplissant le plus souvent des fonctions combinées : touristiques, familiales, thérapeutiques, éducatives etc.. Joie et anxiété des préparatifs et du départ, craintes et désirs de rencontres dans la promiscuité des chemins de fer, excitation au passage des frontières et soulagement de rentrer chez soi saine et sauve : autant de sentiments confiés à leurs journaux par les jeunes diaristes voyageuses.Travelling Demoiselles’ Emotions : travel in girls’ diaries in the nineteenth centuryThe collection of nineteenth century’s girls’ private diaries studied by Philippe Lejeune (Le moi des demoiselles : enquête sur le journal de jeune fille, 1993 reveals the way travel interrupted the often dull routine of young bourgeois and aristocratic girls. About thirty diaries display the mixed feelings that travel generated for these girls who left home, most often with family members, to discover new places, attend family events, restore health, or acquire education, etc. This selection of texts highlights such topics as the pleasure and anxiety of leaving home, the fear and desire of railway travels’ unexpected encounters, the exhilaration in crossing borde.

  5. Préparer les jeunes à un emploi productif RWANDA

    International Development Research Centre (IDRC) Digital Library (Canada)

    exemple dans des marchés ou sur des chantiers de construction en qualité de journaliers. Dans les régions urbaines, plusieurs jeunes hommes conduisent des motos (taxis) ou vendent des cartes de téléphones portables prépayées dans la rue. Les filles qui n'ont fait que des études primaires ont encore moins de possi-.

  6. Syndrome de Gougerot-Sjögren primitif du sujet âgé ...

    African Journals Online (AJOL)

    Les objectifs de notre etude est d'etudier les caracteristiques cliniques et immunologiques du syndrome de Gougerot Sjogren primitif (SGSp) du sujet age et les comparer a une population temoin plus jeune. Nous avons analyse retrospectivement les dossiers de 60 patients atteints de SGSp consecutifs, suivis au service de ...

  7. Les jeunes s'engagent dans la lutte contre le sida | CRDI - Centre de ...

    International Development Research Centre (IDRC) Digital Library (Canada)

    14 janv. 2011 ... Les nouvelles technologies de l'information et de la communication (TIC) ... Ernesto Cabellos - Dans quel contexte social s'inscrit le projet Punto J ? .... Les jeunes apprennent ainsi à éviter de représenter les femmes comme ...

  8. Jeunes, pauvreté et utilisation des TIC - nouvelles sphères ...

    International Development Research Centre (IDRC) Digital Library (Canada)

    Les TIC peuvent englober les réseaux sociaux (comme Facebook et Twitter), les communautés virtuelles (comme Idealist et TakingITGlobal) et les plateformes de diffusion de contenu multimédia (comme YouTube, MySpace et Youth Media Exchange Project). Ce projet servira à documenter la manière dont les jeunes ...

  9. Participation des jeunes femmes à la vie politique au Malawi | CRDI ...

    International Development Research Centre (IDRC) Digital Library (Canada)

    Conscients de la corrélation entre la pauvreté, la vulnérabilité sociale et les inégalités entre les sexes, les chercheurs se demanderont dans quelle mesure la situation sociale, économique, culturelle et politique des femmes qui vivent en milieu rural au Malawi influe sur la participation, à la vie politique locale, des jeunes ...

  10. Syndrome de moelle bas attachée | Badaoui | Pan African Medical ...

    African Journals Online (AJOL)

    Le syndrome de la moelle bas attachée est une complication du dysraphisme spinal. Affection est souvent découverte chez l'enfant, peut être asymptomatique et rencontrée chez l'adulte. Nous rapportons le cas d'une jeune fille de 20 ans qui consultait pour une symptomatologie urinaire faite d'une dysurie et d'une ...

  11. Respect par les Canadiens de 10 à 17 ans des Directives canadiennes en matière de mouvement sur 24 heures pour les enfants et les jeunes

    Directory of Open Access Journals (Sweden)

    Ian Janssen

    2017-01-01

    Full Text Available Introduction : Le document Directives canadiennes en matière de mouvement sur 24 heures pour les enfants et les jeunes publié en 2016 contient des recommandations quant à l’activité physique quotidienne d’intensité moyenne à élevée, au temps de loisir passé devant un écran et au sommeil chez les jeunes de 5 à 17 ans. Cette étude a pour objectif d’estimer le pourcentage de Canadiens de 10 à 17 ans qui respectent ces recommandations. Méthodologie : Nous avons analysé un échantillon national représentatif de 22 115 jeunes. Les données sur le comportement actif ont été autodéclarées. Le respect des recommandations des Directives repose sur les éléments suivants : accumulation d’au moins 60 minutes par jour d’activité physique d’intensité moyenne à élevée, pas plus de 2 heures par jour de temps de loisir passé devant un écran et de 9 à 11 heures de sommeil continu par nuit pour les jeunes de 10 à 13 ans ou de 8 à 10 heures de sommeil continu par nuit pour les jeunes de 14 à 17 ans. Résultats : Seulement 3 % des jeunes de l’échantillon respectaient les trois recommandations clés. Vingt-cinq pour cent respectaient deux recommandations, 51 % en respectaient une et 21 % n’en respectaient aucune. La recommandation en matière de sommeil était la plus respectée par les enfants et les jeunes (66 %, suivie de celle en matière d’activité physique d’intensité moyenne à élevée (35 % et de celle relative au temps passé devant un écran (8 %. Conclusion : Une faible proportion (moins de 3 % de Canadiens de 10 à 17 ans respectent les trois principales recommandations des Directives canadiennes en matière de mouvement sur 24 heures pour les enfants et les jeunes.

  12. Vivre sa passion et gagner sa vie : jeunes artistes du sud-ouest de ...

    African Journals Online (AJOL)

    du sud-ouest de Madagascar sont bien en avance sur leur temps. Les jeunes artistes ..... et Damama, toutes deux des célébrités originaires de la partie nord de la .... la mise en relief de quelques touches personnelles, par rapport au texte et/.

  13. Former les jeunes chercheurs en vue d'influencer les politiques de ...

    International Development Research Centre (IDRC) Digital Library (Canada)

    2 mai 2016 ... Les conférences, les séances de tutorat et les stages financés par le CRDI en Asie, en Afrique et en Amérique latine renforcent les capacités des jeunes chercheurs en vue d'éclairer les politiques de télécommunications. Communications Policy Research South (CPRsouth) : les conférences présentent les ...

  14. Améliorer les politiques d'emploi des jeunes en Afrique francophone ...

    International Development Research Centre (IDRC) Digital Library (Canada)

    Centre de recherches pour le développement international Gouvernement du ... des bureaux de placement afin d'aider les jeunes à intégrer le marché du travail. ... Croissance inclusive : une expression à la mode ou une notion innovante ? ... Miser sur la recherche pour améliorer l'accès à la justice partout dans le monde.

  15. Stimuler les possibilités d'emploi pour les jeunes en Tanzanie ...

    International Development Research Centre (IDRC) Digital Library (Canada)

    17 déc. 2015 ... ... Résoudre le problème de l'emloi des jeunes en Afrique. Liens connexes : Youth Employment Promotion a Priority Agenda for Tanzania, The Guardian (en anglais); Report: National Stakeholders Consultative Workshop on Youth Employment (PDF, 1,74 Mo) (en anglais); Vidéo de l'atelier sur YouTube ...

  16. Evaluation of the reach and impact of the 100% Jeune youth social marketing program in Cameroon: findings from three cross-sectional surveys.

    Science.gov (United States)

    Plautz, Andrea; Meekers, Dominique

    2007-02-26

    The 100% Jeune youth social marketing program in Cameroon aims to address the high STI/HIV prevalence rates and the high levels of unwanted pregnancy. This study evaluates the 100% Jeune program, analyzing its reach and impact on condom use, level of sexual activity, and predictors of condom use. This analysis uses data from three waves of the Cameroon Adolescent Reproductive Health Survey, implemented at 18-month intervals between 2000 and 2003. The sample is restricted to unmarried youth aged 15-24; sample sizes are 1,956 youth in 2000, 3,237 in 2002, and 3,370 in 2003. Logistic regression analyses determine trends in reproductive health behavior and their predictors, as well as estimate the effect of program exposure on these variables. All regression analyses control for differences in sample characteristics. A comparison of trends over the 36-month study period shows that substantial positive changes occurred among youth. Results of dose response analyses indicate that some of these positive changes in condom use and predictors of use can be attributed to the 100% Jeune youth social marketing program. The program contributed to substantial increases in condom use, including consistent use with regular partners among youth of both sexes. Among males, it also contributed to consistent use with casual partners. While condom use increased with both regular and casual partners, levels of use are higher with the latter. Observed secular trends indicate that factors besides the 100% Jeune program also contributed to the observed improvements. Despite efforts to promote abstinence, the 100% Jeune program had no effect on levels of sexual activity or number of sexual partners. Likewise, there is no evidence that reproductive health programs for youth lead to increased sexual activity. Results show that 100% Jeune successfully used a variety of mass media and interpersonal communication channels to reach a high proportion of youth throughout the intervention period. In

  17. Evaluation of the reach and impact of the 100% Jeune youth social marketing program in Cameroon: findings from three cross-sectional surveys

    Directory of Open Access Journals (Sweden)

    Plautz Andrea

    2007-02-01

    Full Text Available Abstract Background The 100% Jeune youth social marketing program in Cameroon aims to address the high STI/HIV prevalence rates and the high levels of unwanted pregnancy. This study evaluates the 100% Jeune program, analyzing its reach and impact on condom use, level of sexual activity, and predictors of condom use. Methods This analysis uses data from three waves of the Cameroon Adolescent Reproductive Health Survey, implemented at 18-month intervals between 2000 and 2003. The sample is restricted to unmarried youth aged 15–24; sample sizes are 1,956 youth in 2000, 3,237 in 2002, and 3,370 in 2003. Logistic regression analyses determine trends in reproductive health behavior and their predictors, as well as estimate the effect of program exposure on these variables. All regression analyses control for differences in sample characteristics. Results A comparison of trends over the 36-month study period shows that substantial positive changes occurred among youth. Results of dose response analyses indicate that some of these positive changes in condom use and predictors of use can be attributed to the 100% Jeune youth social marketing program. The program contributed to substantial increases in condom use, including consistent use with regular partners among youth of both sexes. Among males, it also contributed to consistent use with casual partners. While condom use increased with both regular and casual partners, levels of use are higher with the latter. Observed secular trends indicate that factors besides the 100% Jeune program also contributed to the observed improvements. Despite efforts to promote abstinence, the 100% Jeune program had no effect on levels of sexual activity or number of sexual partners. Likewise, there is no evidence that reproductive health programs for youth lead to increased sexual activity. Conclusion Results show that 100% Jeune successfully used a variety of mass media and interpersonal communication channels to

  18. Mobiliser les jeunes, enraciner la démocratie | CRDI - Centre de ...

    International Development Research Centre (IDRC) Digital Library (Canada)

    13 déc. 2010 ... Les participants ont reconnu l'importance de l'obtention du tout premier emploi et se sont dits inquiets face au marché du travail qui rétrécit et aux préjugés contre les nouveaux travailleurs jeunes et inexpérimentés. La culture et les loisirs occupent une place importante dans leur vie, et ils en ont souligné le ...

  19. Lutter contre la radicalisation des jeunes en Tunisie au moyen de l ...

    International Development Research Centre (IDRC) Digital Library (Canada)

    Les chercheurs utiliseront une approche axée sur les études de cas et des méthodes mixtes pour étudier l'exclusion sociale, politique et culturelle des jeunes Tunisiens, ainsi que les éléments déclencheurs de leur engagement dans la radicalisation violente et l'extrémisme. Le projet mettra l'accent sur les zones urbaines ...

  20. La cuisine des jeunes : désordre alimentaire, identité générationnelle et ordre social

    Directory of Open Access Journals (Sweden)

    Isabelle Garabuau-Moussaoui

    2001-04-01

    Full Text Available En France, les jeunes sont perçus comme ayant une alimentation déséquilibrée, déstructurée, comparée à la norme. Cependant, ce rapport à l’alimentation n’est pas si simple. Lorsque l’on analyse non pas l’alimentation comme l’acte d’ingérer, mais la cuisine, comme un système de techniques, d’actions, de savoir-faire, de symboliques, de valeurs, de représentations, nous constatons que les jeunes ont en effet des pratiques culinaires en rupture avec les pratiques de leurs parents, mais que cela ...

  1. Réduire la violence chez les jeunes en Côte d'Ivoire | CRDI - Centre ...

    International Development Research Centre (IDRC) Digital Library (Canada)

    6 oct. 2016 ... Image. Une personne tient dans ses mains des cartouches de fusil. Nations Unies. HISTOIRE À SUCCÈS | VILLES SÛRES ET INCLUSIVES. Une recherche de l'Université Alassane Ouattara révèle comment les jeunes de la Côte d'Ivoire sont devenus victimes et auteurs de crimes violents et recommande ...

  2. Le savoir offre aux jeunes des milieux urbains d'autres possibilités ...

    International Development Research Centre (IDRC) Digital Library (Canada)

    8 août 2016 ... Un examen approfondi de la violence juvénile permet de dégager diverses solutions pour prévenir la criminalité, notamment des ressources de soutien en santé mentale, le renforcement de la confiance au sein de la collectivité, le maintien des jeunes à l'école et la création de possibilités d'emploi.

  3. Dissection aortique dans le syndrome de Marfan: à propos d'un cas ...

    African Journals Online (AJOL)

    Nous rapportons le cas d'un jeune homme de 30 ans chez qui nous avons fait le diagnostic de la dissection aortique dans le syndrome de Marfan. Il a pu bénéficier d'une intervention chirurgicale à coeur ouvert avec un remplacement de la valve aortique. A ce jour, 30ème mois après l'opération aucune complication n'est ...

  4. Accroître les possibilités pour les jeunes vulnérables : entendre leur ...

    International Development Research Centre (IDRC) Digital Library (Canada)

    Le but est de définir des solutions qui prennent en compte les motivations et les aspirations des jeunes NEET, tout en produisant des emplois. Espacio Pu¿blico au Chili sera l'institution coordonnatrice du projet. ... Institution. Espacio Público. Institution Country. Chile. Institution Website. http://www.espaciopublico.cl ...

  5. Santé des adolescents et des jeunes au Burkina Faso : état des ...

    African Journals Online (AJOL)

    Il s'est agi d'une étude évaluative ayant utilisé une revue documentaire associée à une interview des acteurs clés et un atelier de validation et d'identification des interventions pertinentes pour un plan stratégique national. La situation de la santé des adolescents et des jeunes est caractérisée par des grossesses précoces ...

  6. Améliorer les conditions de vie des jeunes et des femmes en ...

    International Development Research Centre (IDRC) Digital Library (Canada)

    Améliorer les conditions de vie des jeunes et des femmes en développant la petite entreprise : mesure de l'impact. Durant les années 2000, la croissance économique et l'augmentation des investissements sociaux ont réduit la pauvreté et offert aux populations de l'Amérique latine de multiples débouchés sur le marché du ...

  7. Améliorer les moyens de subsistance des jeunes en Côte d'Ivoire ...

    International Development Research Centre (IDRC) Digital Library (Canada)

    17 déc. 2015 ... Après plus d'une décennie de lutte politique et militaire, la création d'emplois, surtout en faveur des jeunes, figure au premier plan des préoccupations du gouvernement ivoirien. Un document d'orientation commandé par le Centre de recherches pour le développement international du Canada, organisme ...

  8. Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations

    Science.gov (United States)

    Perrault, Isabelle; Saunier, Sophie; Hanein, Sylvain; Filhol, Emilie; Bizet, Albane A.; Collins, Felicity; Salih, Mustafa A.M.; Gerber, Sylvie; Delphin, Nathalie; Bigot, Karine; Orssaud, Christophe; Silva, Eduardo; Baudouin, Véronique; Oud, Machteld M.; Shannon, Nora; Le Merrer, Martine; Roche, Olivier; Pietrement, Christine; Goumid, Jamal; Baumann, Clarisse; Bole-Feysot, Christine; Nitschke, Patrick; Zahrate, Mohammed; Beales, Philip; Arts, Heleen H.; Munnich, Arnold; Kaplan, Josseline; Antignac, Corinne; Cormier-Daire, Valérie; Rozet, Jean-Michel

    2012-01-01

    Mainzer-Saldino syndrome (MSS) is a rare disorder characterized by phalangeal cone-shaped epiphyses, chronic renal failure, and early-onset, severe retinal dystrophy. Through a combination of ciliome resequencing and Sanger sequencing, we identified IFT140 mutations in six MSS families and in a family with the clinically overlapping Jeune syndrome. IFT140 is one of the six currently known components of the intraflagellar transport complex A (IFT-A) that regulates retrograde protein transport in ciliated cells. Ciliary abundance and localization of anterograde IFTs were altered in fibroblasts of affected individuals, a result that supports the pivotal role of IFT140 in proper development and function of ciliated cells. PMID:22503633

  9. Prises de risques chez les jeunes de Bobo Dioulasso: une analyse des facteurs associés à la précocité et au multipartenariat sexuel

    Science.gov (United States)

    Adohinzin, Clétus Come; Meda, Nicolas; Belem, Adrien Marie Gaston; Ouédraogo, Georges Anicet; Sombie, Issiaka; Berthe, Abdramane; Fond-Harmant, Laurence

    2016-01-01

    Introduction Malgré les efforts d'éducation à la santé, les jeunes continuent d'adopter des comportements sexuels à risques, susceptibles d'avoir des répercussions importantes sur leur santé. Cette étude visait à analyser les facteurs associés à la précocité sexuelle et au multipartenariat chez les jeunes de 19-24 ans de Bobo-Dioulasso. Méthodes Il s'agit d'une étude quantitative et transversale. Les données d'enquête ont été recueillies en décembre 2014 à Bobo-Dioulasso (Burkina Faso), auprès de 573 jeunes de 15 à 24 ans. Ces enquêtés ont été sélectionnés par un sondage en grappes à deux degrés. Des facteurs à risques relatifs à la précocité sexuelle et au multipartenariat ont été analysés à l'aide du logiciel Stata IC 13. Le seuil de signification de Psexe, le niveau d'étude, et la situation économique des parents. Nos données avaient aussi montré que les rapports sexuels trop précoces étaient associés au multipartenariat sexuel (p<0,005). Conclusion Les actions visant à renforcer les capacités des jeunes à retarder les premiers rapports sexuels et à mieux évaluer les risques seront de toute importance. Les capacités des parents, des enseignants et des prestataires devraient être aussi renforcées pour l'amélioration de la qualité des relations entre eux et les jeunes. PMID:28292094

  10. Hypermobile Ehlers-Danlos syndrome (a.k.a. Ehlers-Danlos syndrome Type III and Ehlers-Danlos syndrome hypermobility type): Clinical description and natural history.

    Science.gov (United States)

    Tinkle, Brad; Castori, Marco; Berglund, Britta; Cohen, Helen; Grahame, Rodney; Kazkaz, Hanadi; Levy, Howard

    2017-03-01

    The hypermobile type of Ehlers-Danlos syndrome (hEDS) is likely the most common hereditary disorder of connective tissue. It has been described largely in those with musculoskeletal complaints including joint hypermobility, joint subluxations/dislocations, as well as skin and soft tissue manifestations. Many patients report activity-related pain and some go on to have daily pain. Two undifferentiated syndromes have been used to describe these manifestations-joint hypermobility syndrome and hEDS. Both are clinical diagnoses in the absence of other causation. Current medical literature further complicates differentiation and describes multiple associated symptoms and disorders. The current EDS nosology combines these two entities into the hypermobile type of EDS. Herein, we review and summarize the literature as a better clinical description of this type of connective tissue disorder. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

  11. Pour lire le résumé complet, Améliorer l'employabilité des jeunes en

    International Development Research Centre (IDRC) Digital Library (Canada)

    une préoccupation, il existe un besoin incontestable de renforcer les capacités .... ce sont principalement les taux de roulement élevés des jeunes plutôt que leur ... Le milieu des bailleurs de fonds a complété les efforts du gou- vernement au ...

  12. Emploi et migration des jeunes en Afrique de l'Est et du Sud | IDRC ...

    International Development Research Centre (IDRC) Digital Library (Canada)

    Ce projet d'une durée de deux ans proposera et amorcera des stratégies fondées sur les données probantes en vue de créer des occasions d'emploi décentes et de soutenir l'entrepreneuriat face à la croissance démographique des jeunes que connaît l'Afrique. Il se concentrera sur la manière dont la migration influe sur ...

  13. Violence chez les jeunes, maintien de l'ordre et accès à la justice en ...

    International Development Research Centre (IDRC) Digital Library (Canada)

    L'Amérique latine affiche des tendances alarmantes au chapitre des enlèvements, du narcotrafic, de la violence des gangs de rue, des homicides, de la brutalité policière et de la violence à l'égard des femmes. Nombre de ces crimes concernent des jeunes, soit comme auteurs, soit comme victimes. Au moyen d'études de ...

  14. Stratégie de survie et culture de jeunes dans les marchés urbains ...

    African Journals Online (AJOL)

    Cet article porte sur la vie quotidienne des adolescentes travailleuses dans les marchés urbains et péri-urbains de Dakar, capitale du Sénégal. Elle vise à approfondir la compréhension et la connaissance sur les stratégies de survie et la socialisation des jeunes dans les rues des villes sénégalaises et sur les logiques de ...

  15. Les expériences de victimisation, la santé mentale et le bien-être de jeunes trans au Québec

    Science.gov (United States)

    Raymond, Guillaume; Blais, Martin; Bergeron, Félix-Antoine; Hébert, Martine

    2016-01-01

    Résumé Les normes traditionnelles de genre prescrivent l’adéquation de l’expression de la masculinité et de la féminité au sexe anatomique de naissance. Les personnes qui présentent des variations dans l’expression de genre sont sujettes à diverses formes de réactions sociales suggérant la réprobation (des regards désapprobateurs aux violences physiques) susceptibles d’influencer négativement leur santé mentale. Trente-sept (37) jeunes se décrivant comme trans ou en questionnement sur leur identité de genre ont été recrutés dans le cadre de l’enquête sur les Parcours Amoureux des Jeunes de minorités sexuelles du Québec. Leurs expériences de victimisation parentale et de victimisation basée sur la non-conformité de genre ainsi que des indicateurs de santé mentale (détresse psychologique, estime de soi) ont été mesurés. Afin de comparer les expériences de victimisation et l’état de santé mentale des jeunes trans, ils ont été appariés à 37 garçons et 37 filles cisgenres sur la base de leurs caractéristiques sociodémographiques. Des analyses de prévalence et un modèle acheminatoire ont été réalisés. Les résultats mettent en évidence que les jeunes trans sont plus susceptibles de présenter des scores cliniques de détresse psychologique et de faible estime d’eux-mêmes que leurs pairs cisgenres. La violence verbale parentale et la victimisation basée sur la non-conformité de genre influencent négativement l’estime de soi, ce qui en retour augmente la probabilité de vivre de la détresse psychologique. Les résultats appuient l’importance des interventions de soutien à la diversité sexuelle et de genre. PMID:26966849

  16. Prise en charge de l’infection gonococcique chez les adultes et les jeunes

    Science.gov (United States)

    Pogany, Lisa; Romanowski, Barbara; Robinson, Joan; Gale-Rowe, Margaret; Latham-Carmanico, Cathy; Weir, Christine; Wong, Tom

    2015-01-01

    Résumé Objectif Présenter des recommandations sur la prise en charge de l’infection gonococcique chez les adultes et les jeunes. Qualité des données Les recommandations thérapeutiques des lignes directrices canadiennes sur les infections transmissibles sexuellement reposent sur une recherche documentaire de même que sur des catégories de recommandations et des niveaux de qualité de données déterminés par au moins 2 évaluateurs. Les recommandations ont été revues par des pairs et sont en instance d’approbation par le groupe de travail d’experts. Message principal Les nouvelles recommandations portant sur la prise en charge de l’infection gonococcique chez les adultes et les jeunes préconisent les cultures à titre d’outil diagnostique lorsqu’elles sont pratiques, le traitement par antibiothérapie combinée (ceftriaxone associée à l’azithromycine) et le signalement sans délai de tous les cas dont le traitement a échoué aux autorités de santé publique. Conclusion Si elles sont suivies, ces nouvelles recommandations pourraient réduire l’échec thérapeutique, contribuer à une surveillance plus étroite des tendances à la résistance de Neisseria gonorrhoeae aux antibiotiques et contribuer à prévenir la transmission de gonorrhée résistante à plusieurs médicaments.

  17. L’infarctus du myocarde du jeune adulte -Analyse rétrospective des cas colligés au CHU de Dakar

    Directory of Open Access Journals (Sweden)

    Nobila Valentin Yameogo

    2010-09-01

    Full Text Available Les données relatives à l’infarctus du myocarde chez le jeune adulte sont rares en Afrique noir. Nous rapportons une série rétrospective de 14 cas d’infarctus du myocarde chez l’adulte jeune noir africain. Pour analyser les caractéristiques épidémiologiques, cliniques, électriques, échographiques, biologiques, thérapeutiques et évolutives de l’infarctus aigu du myocarde chez le jeune adulte nous avons étudié de manière rétrospective les dossiers médicaux d’une série consécutive des patients admis entre Janvier 2003 et Décembre 2008 pour prise en charge d’infarctus aigu du myocarde. Quatre-vingt quatre (84 cas d’infarctus du myocarde ont été pris en charge durant la période d’étude ,14 patients (16,6% avaient un âge inférieur ou égal à 40 ans. L’âge moyen était de 34 +ou-5ans (extrêmes 27ans et 40 ans. Les facteurs de risque cardio-vasculaire étaient dominés par le sexe masculin (n=11, la dyslipidémie (n=7 et le tabagisme par cigarette (n=6. La contraception orale était absente chez le 1/3 des patients. Le délai moyen d’admission était tardif (15 plus ou moins 4 heures. L’IDM était antérieur dans la moitié des cas. L’acide acétylsalicylique, les inhibiteurs de l’enzyme de conversion Les bétabloquants et les statines étaient les médicaments les plus prescrits. La thrombolyse et l’angioplastie étaient respectivement réalisées chez 3 patients et 0 patient. 4 cas d’insuffisance cardiaque, 2 cas de bloc atrio-ventriculaire complet et 1 cas de décès étaient les principales complications. L’infarctus du myocarde concerne également le sujet jeune noir africain. Les facteurs de risque sont essentiellement représentés par le sexe, la dyslipidémie, le tabagisme et la contraception orale.

  18. New Jersey Center for Tourette Syndrome Sharing Repository: methods and sample description

    Directory of Open Access Journals (Sweden)

    King Robert A

    2008-11-01

    Full Text Available Abstract Background Tourette Syndrome is a neuropsychiatric disorder characterized by chronic motor and phonic tics. Affected individuals and their family members are at an increased risk for other neuropsychiatric conditions including obsessive-compulsive disorder and attention deficit hyperactivity disorder. While there is consistent evidence that genetic factors play a significant etiologic role, no replicable susceptibility alleles have thus far been identified. Description Here we discuss a sharing resource of clinical and genetic data, the New Jersey Center for Tourette Syndrome Sharing Repository, whose goal is to provide clinical data, DNA, and lymphoblastoid cell lines to qualified researchers. Conclusion Opening access to the data and patient material to the widest possible research community will hasten the identification of causal genetic factors and facilitate better understanding and treatment of this often impairing disorder.

  19. Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19

    Science.gov (United States)

    Bredrup, Cecilie; Saunier, Sophie; Oud, Machteld M.; Fiskerstrand, Torunn; Hoischen, Alexander; Brackman, Damien; Leh, Sabine M.; Midtbø, Marit; Filhol, Emilie; Bole-Feysot, Christine; Nitschké, Patrick; Gilissen, Christian; Haugen, Olav H.; Sanders, Jan-Stephan F.; Stolte-Dijkstra, Irene; Mans, Dorus A.; Steenbergen, Eric J.; Hamel, Ben C.J.; Matignon, Marie; Pfundt, Rolph; Jeanpierre, Cécile; Boman, Helge; Rødahl, Eyvind; Veltman, Joris A.; Knappskog, Per M.; Knoers, Nine V.A.M.; Roepman, Ronald; Arts, Heleen H.

    2011-01-01

    A subset of ciliopathies, including Sensenbrenner, Jeune, and short-rib polydactyly syndromes are characterized by skeletal anomalies accompanied by multiorgan defects such as chronic renal failure and retinitis pigmentosa. Through exome sequencing we identified compound heterozygous mutations in WDR19 in a Norwegian family with Sensenbrenner syndrome. In a Dutch family with the clinically overlapping Jeune syndrome, a homozygous missense mutation in the same gene was found. Both families displayed a nephronophthisis-like nephropathy. Independently, we also identified compound heterozygous WDR19 mutations by exome sequencing in a Moroccan family with isolated nephronophthisis. WDR19 encodes IFT144, a member of the intraflagellar transport (IFT) complex A that drives retrograde ciliary transport. We show that IFT144 is absent from the cilia of fibroblasts from one of the Sensenbrenner patients and that ciliary abundance and morphology is perturbed, demonstrating the ciliary pathogenesis. Our results suggest that isolated nephronophthisis, Jeune, and Sensenbrenner syndromes are clinically overlapping disorders that can result from a similar molecular cause. PMID:22019273

  20. Vulnérabilité des familles dirigées par une mère adolescente ou jeune adulte faisant l'objet d'une enquête menée par un service de protection de l'enfance au Canada

    Directory of Open Access Journals (Sweden)

    W. Hovdestad

    2015-01-01

    Full Text Available Introduction : Les familles avec une jeune mère sont associées à un risque accru de mauvais traitements envers les enfants et de problèmes sociaux et de santé. Méthodologie : Une analyse du chi carré effectuée sur des données combinées des services de protection de l'enfance issues de l'Étude canadienne sur l'incidence des signalements de cas de violence et de négligence envers les enfants (ECI-2003 et ECI-2008 a permis de comparer 284 mères adolescentes (18 ans et moins et 800 jeunes mères (19 à 21 ans et leurs familles à 5 752 familles avec une mère de 22 ans ou plus. Résultats : Vingt-six pour cent des jeunes mères avaient 18 ans ou moins. La plupart recevaient de l'aide sociale comme principale source de revenu (68 % des familles avec une mère adolescente et 57 % des familles avec une mère jeune adulte contre 36 % des familles avec une mère de 22 ans ou plus. Les mères adolescentes et les mères jeunes adultes étaient plus susceptibles d'avoir été placées dans leur enfance que les mères de 22 ans ou plus (31 % et 23 % contre 10 % et présentaient plus fréquemment des facteurs de risque tels que l'alcoolisme (25 % et 23 % contre 18 % ou un manque de soutien social (46 % et 41 % contre 37 %. Les pourvoyeurs secondaires de soins dans les familles avec de jeunes mères étaient aussi associés à un plus grand nombre de facteurs de risque. Les familles de mères adolescentes ou jeunes adultes couraient un risque plus élevé de décision de placement de l'enfant pendant l'enquête (29 % et 27 % contre 17 %. Les mères couraient toutes le même risque d'être victimes de violence familiale et de présenter des problèmes de santé mentale. Conclusion : Dans cet échantillon de familles à risque élevé, les risques étaient plus importants pour les familles avec de jeunes mères que pour les familles auxquelles on les avait comparées. Le jeune âge de la mère pourrait être un bon critère pour repérer les

  1. Entrée des jeunes dans l'arène politique au Brésil | CRDI - Centre ...

    International Development Research Centre (IDRC) Digital Library (Canada)

    18 oct. 2010 ... ... et qu'ont menée des chercheurs de l'Ibase, l'institut brésilien d'analyse sociale et économique. Ces chercheurs ont réalisé quelque 8 000 entrevues et organisé 40 groupes de discussion qui ont permis aux jeunes de s'exprimer avec franchise et grâce auxquels les constatations émanant de l'étude sont ...

  2. Analyse qualitative de l'intégration de l'éducation sexuelle des jeunes dans les médias audio-visuels à Kinshasa en République Démocratique du Congo.

    OpenAIRE

    Nsakala, Gabriel Vodiena; Coppieters, Yves; Kayembe, Patrick Kalambayi

    2014-01-01

    L'éducation sexuelle par les médias de masse contribue positivement à la prévention des infections sexuellement transmissibles (IST)/VIH et des grossesses précoces auprès des jeunes. L'objectifs de cette étude sont d'appréhender le niveau d'intégration de l'éducation sexuelle dans les émissions de santé à Kinshasa en République Démocratique du Congo et d'identifier les facteurs facilitant et limitant l'éducation sexuelle des jeunes dans les programmes audio-visuels congolais. Une triangulatio...

  3. Le mythe du jeune désœuvré: analyse des interventions DDR en Côte d’Ivoire

    NARCIS (Netherlands)

    Chelpi-den Hamer, M.

    2009-01-01

    Les processus de prévention et de résolution des conflits sont en grande partie basés sur l’idée qu’un changement positif peut être induit par des interventions ciblées et planifiées. Il faut pourtant éviter de surestimer l’impact de telles interventions. Cet article explore comment de jeunes civils

  4. Parent-reported health-related quality of life of children with Down syndrome: a descriptive study.

    Science.gov (United States)

    Shields, Nora; Leonard, Helen; Munteanu, Shannon; Bourke, Jennifer; Lim, Polly; Taylor, Nicholas F; Downs, Jenny

    2018-04-01

    To describe health-related quality of life of Australian children and adolescents with Down syndrome and compare it with norm-referenced data. A cross-sectional survey was conducted with parents of 75 children and adolescents (43 males, 32 females) with Down syndrome aged 5 to 18 years (mean age 13y 2mo, SD 4y 8mo). The proxy-report KIDSCREEN-27 questionnaire was administered and five dimensions of health-related quality of life were measured. Data were analysed descriptively and compared with normative data. Total group mean scores for psychological well-being, autonomy and parent relation, and school environment dimensions were within normal threshold values, whereas mean scores for physical well-being, and social support and peers dimensions, were poorer. For participants with Down syndrome aged 8 to 18 years, the difference with normative data for proxy-reported physical well-being, psychological well-being, and social support and peers dimensions favoured typically developing children. Adolescents (13-18y) with Down syndrome scored poorer on all dimensions than children (5-12y) with Down syndrome. Our findings assist a better understanding of the lived experiences of children and adolescents with Down syndrome, as perceived by their parents, and suggest aspects of health that could be influenced to optimize their quality of life. Proxy-reported psychological well-being and autonomy were within the normal range for children with Down syndrome. Physical well-being and social support scores were significantly lower than normative data. Proxy-reported scores for adolescents with Down syndrome were consistently poorer than for children with Down syndrome and the differences were clinically important. © 2018 Mac Keith Press.

  5. Ellis-Van Creveld syndrome

    Directory of Open Access Journals (Sweden)

    Le Merrer Martine

    2007-06-01

    Full Text Available Abstract Ellis-van Creveld syndrome (EVC is a chondral and ectodermal dysplasia characterized by short ribs, polydactyly, growth retardation, and ectodermal and heart defects. It is a rare disease with approximately 150 cases reported worldwide. The exact prevalence is unknown, but the syndrome seems more common among the Amish community. Prenatal abnormalities (that may be detected by ultrasound examination include narrow thorax, shortening of long bones, hexadactyly and cardiac defects. After birth, cardinal features are short stature, short ribs, polydactyly, and dysplastic fingernails and teeth. Heart defects, especially abnormalities of atrial septation, occur in about 60% of cases. Cognitive and motor development is normal. This rare condition is inherited as an autosomal recessive trait with variable expression. Mutations of the EVC1 and EVC2 genes, located in a head to head configuration on chromosome 4p16, have been identified as causative. EVC belongs to the short rib-polydactyly group (SRP and these SRPs, especially type III (Verma-Naumoff syndrome, are discussed in the prenatal differential diagnosis. Postnatally, the essential differential diagnoses include Jeune dystrophy, McKusick-Kaufman syndrome and Weyers syndrome. The management of EVC is multidisciplinary. Management during the neonatal period is mostly symptomatic, involving treatment of the respiratory distress due to narrow chest and heart failure. Orthopedic follow-up is required to manage the bones deformities. Professional dental care should be considered for management of the oral manifestations. Prognosis is linked to the respiratory difficulties in the first months of life due to thoracic narrowness and possible heart defects. Prognosis of the final body height is difficult to predict.

  6. Caractérisation de l'alimentation des jeunes enfants âgés de 6 à 36 ...

    African Journals Online (AJOL)

    Objectif: La période d'alimentation complémentaire est une période critique pour la croissance de l'enfant. Cette étude vise à décrire l'alimentation des jeunes enfants âgés de 6 à 36 mois en milieu rural et urbain du Sud-Bénin. Méthodologie et Résultats: Une enquête transversale a été menée sur 600 mères ayant des ...

  7. The impact on condom use of the "100% Jeune" social marketing program in Cameroon.

    Science.gov (United States)

    Meekers, Dominique; Agha, Sohail; Klein, Megan

    2005-06-01

    To measure the reach of the "100% Jeune" social marketing campaign and to assess its impact on condom use and on the predictors of condom use. The campaign aims to improve condom use through intensive youth-oriented mass media and interpersonal communications and widespread distribution of subsidized condoms. We analyzed data from the 2000 and 2002 waves of a reproductive health survey of youth aged 15-24 years, with sample sizes of 2097 and 3536, respectively. Exposure to campaign activities was high. During the course of the intervention, there were significant changes in perceived condom attributes and access, self-efficacy, and perceived social support. Consistent with these changes, the percentage of youth who used a condom in last sex with their regular partner increased from 32% to 45% for females (p < .05) and from 44% to 61% for males (p < .01). Additional analyses suggest that exposure to the "100% Jeune" campaign has contributed to these trends. The multi-faceted mass media and interpersonal communication campaign was effective for reaching youth. During the first 18 months of the campaign, significant changes occurred in perceived social support and condom use self-efficacy. Significant increases in levels of condom use also were achieved. However, the program was more effective among males than females. This indicates a need for more and possibly different campaign activities to focus specifically on risk perception and self-efficacy among females. The results also show that repeated program exposure is needed to achieve behavior change. Hence, future programs can enhance their effectiveness by using a mix of mass media and interpersonal communications to repeatedly expose youth to key campaign messages.

  8. Paramètres d’évaluation des programmes de prévention des blessures chez les jeunes travailleurs occupant des professions à haut risque : examen de la portée de la littérature

    Directory of Open Access Journals (Sweden)

    Jennifer Smith

    2018-01-01

    Full Text Available Introduction. Malgré la protection juridique dont les jeunes travailleurs au Canada font l’objet, les jeunes de 15 à 24 ans sont exposés à un risque élevé de blessures traumatiques au travail. Étant donné que de nombreuses initiatives de prévention des blessures ciblant les jeunes travailleurs existent, les défenseurs des droits des jeunes et les employeurs doivent relever le défi de choisir quels aspects de la prévention vont être les plus efficaces afin d’y consacrer leurs efforts. Une analyse de la littérature universitaire et de la littérature grise a été entreprise afin de compiler les paramètres (indicateurs évalués et méthodes de mesure couramment utilisés pour évaluer les programmes de prévention des blessures auprès des jeunes travailleurs. Les paramètres constituent des références de mesure permettant d’évaluer l’efficacité, le rendement, le progrès ou la qualité d’un projet, d’un procédé ou d’un produit. Méthodologie. Nous avons utilisé le modèle PICO pour définir les termes de recherche. Des recherches ont été effectuées dans Medline, PubMed, OVID, EMBASE, CCOHS, PsychINFO, CINAHL, NIOSHTIC, Google Scholar et dans la littérature grise afin de trouver des articles en anglais publiés entre 1975 et 2015. Deux lecteurs critiques indépendants ont examiné la liste des articles et ont classé les paramètres en trois catégories de prévention des blessures : l’éducation, l’environnement et l’application de règlements. Résultats. Sur les 174 articles ayant répondu aux critères d’inclusion, 21 décrivaient et évaluaient une intervention. Parmi ceux-ci, la moitié (n=11 étaient à caractère éducatif. Les paramètres couramment évalués étaient : les connaissances, les perceptions, les comportements ou les intentions autodéclarées, l’exposition aux dangers, les demandes d’indemnisation pour blessures et le taux d’accidents de travail. Une étude pr

  9. Visuo-spatial knowledge acquisition in individuals with Down syndrome: The role of descriptions and sketch maps.

    Science.gov (United States)

    Meneghetti, Chiara; Lanfranchi, Silvia; Carretti, Barbara; Toffalini, Enrico

    2017-04-01

    Few studies on individuals with Down syndrome (DS) have explored how they learn space. The present study examines space learning from verbal descriptions in individuals with DS, and explores the role of external cues (such as a sketch map). Twenty-eight individuals with DS and 28 matched typically-developing (TD) children listened to route or survey descriptions with or without seeing a corresponding sketch map (Description+Sketch Map [D+SM] and Description alone [D], respectively). After hearing each description, they performed tasks that involved recognizing, arranging sequentially, and locating landmarks. The results showed that individuals with DS performed less well in recognizing landmarks and arranging them sequentially. The D+SM condition produced general benefits in both groups' accuracy, though the improvement in locating landmarks was greater in the TD than in the DS group. In both groups, the D+SM condition prompted a better performance than the D condition when participants arranged landmarks sequentially after hearing a description from a route perspective, but not from a survey perspective. Overall, our results show that individuals with DS benefited when a spatial description was associated with a corresponding sketch map, albeit to a lesser degree than TD children. The findings are discussed in the light of the literature on DS and on spatial cognition in the TD domain. Copyright © 2017 Elsevier Ltd. All rights reserved.

  10. Production extensive de jeunes saumons atlantiques (Salmo salar L. d'un an dans l'étang du Boucheron (Corrèze

    Directory of Open Access Journals (Sweden)

    DUMAS J.

    1981-07-01

    Full Text Available Dans le cadre du plan de restauration du Saumon dans la Dordogne, un élevage extensif de tacons de repeuplement est expérimenté dans un étang de pénéplaine où des alevins de saumons ont été immergés. Pour une première année d'élevage, cette pièce d'eau a procuré 2 150 jeunes saumons d'un an d'une grande taille moyenne (13,1 cm pour 21,2 g. La proportion de saumoneaux (smolts y est très importante (80,3 %. La survie depuis la mise en charge est élevée (14,3 % comparée à celle observée dans les rivières à saumons. La densité du peuplement à la récolte est, par hectare, de 879 juvéniles pour un poids de 18,6 kg. Les nombreux plans d'eau sur le haut bassin de la Dordogne peuvent constituer à peu de frais un outil de production de jeunes saumons pour le repeuplement de cette rivière.

  11. Epilepsy in fragile-X-syndrome mimicking panayiotopoulos syndrome: Description of three patients.

    Science.gov (United States)

    Bonanni, Paolo; Casellato, Susanna; Fabbro, Franco; Negrin, Susanna

    2017-10-01

    Fragile-X-syndrome is the most common cause of inherited intellectual disability. Epilepsy is reported to occur in 10-20% of individuals with Fragile-X-syndrome. A frequent seizure/electroencephalogram (EEG) pattern resembles that of benign rolandic epilepsy. We describe the clinical features, EEG findings and evolution in three patients affected by Fragile-X-syndrome and epilepsy mimicking Panayiotopoulos syndrome. Age at seizure onset was between 4 and about 7 years. Seizures pattern comprised a constellation of autonomic symptoms with unilateral deviation of the eyes and ictal syncope. Duration of the seizures could be brief or lengthy. Interictal EEGs revealed functional multifocal abnormalities. The evolution was benign in all patients with seizures remission before the age of 14. This observation expands the spectrum of benign epileptic phenotypes present in Fragile-X-syndrome and may be quite helpful in guiding anticonvulsant management and counseling families as to expectations regarding seizure remission. © 2017 Wiley Periodicals, Inc.

  12. Enquêtes populationnelles sur la victimisation et la délinquance chez les jeunes dans les cantons de Vaud et Zurich : Les jeunes non-exclusivement hétérosexuel∙le∙s : populations davantage exposées ?

    OpenAIRE

    Lucia, S.; Stadelmann, S.; Amiguet, M.; Ribeaud, D.; Bize, R.

    2017-01-01

    Les personnes lesbiennes, gays, bisexuelles et transgenres (LGBT) sont nombreuses à être Les personnes lesbiennes, gays, bisexuelles et transgenres (LGBT) sont nombreuses à être confrontées à des violences psychologiques, verbales et/ou physiques. En effet, les jeunes faisantpartie de minorités sexuelles sont plus fréquemment victimisé·e·s à l’école que leurs pair·e·s. Ils·Elles sont par exemple plus nombreux·euses à avoir été victimes de vols ou à avoir eu leurs affaires cassées et sont é...

  13. Jeunes-Turcs et Hellénisme : de l’enthousiasme à la réalité The Young Turks and Hellenism: from enthusiasm to realism

    Directory of Open Access Journals (Sweden)

    Alkistis Sofou

    2012-05-01

    Full Text Available Relations, tensions, oppositions entre les Grecs et les Jeunes-Turcs, entre 1908 et 1914 : la révolution des Jeunes-Turcs a été un tournant dans l’histoire de l’hellénisme. Beaucoup de Rums, malgré quelques voix discordantes, crurent que le nouveau régime poserait les bases d’une collaboration des peuples de l’Empire qui tournerait à leur avantage. Le durcissement progressif de la politique des Jeunes-Turcs dissipa peu à peu ces illusions. Après les défaites et les guerres balkaniques, le gouvernement turc s’orienta vers une politique plus « nationale » : boycott des commerces chrétiens, installation des réfugiés ottomans des Balkans en région à fort pourcentage et chrétien et expulsion violente des Rums des côtes d’Asie Mineure avant même le déclenchement de la Première Guerre mondiale.Relations, tensions, conflicts between the Greek and the Young Turks from 1908 to 1914: the revolution of the Young Turks was a turning point in the history of hellenism. Many Rum, despite some dissenting voices, believed that the new regime would lay the groundwork for collaboration of the people of the Empire to their advantage. The progressive hardening of the Young Turks policy gradually dispelled such illusions. After defeats and the Balkan Wars, the Turkish government turned to a more nationalistic policy: boycotting businesses owned by Christian population and violently expulsion of the Rums from the Asia Minor coast, even before the outbreak of the First World War.

  14. Elevage et alimentation du cerf (Cervus Elaphus) : 2. Elevage des jeunes et production de viande

    OpenAIRE

    THERIEZ , M.

    1989-01-01

    La croissance des animaux, de la naissance à l’âge adulte, ainsi que les caractéristiques de la carcasse des cerfs sont présentées dans cet article. Le jeune faon qui pèse de 8 à 9 kg à la naissance, a une croissance rapide pendant la phase d’alimentation lactée. Cette croissance varie entre 250 et 450 g/j selon le niveau alimentaire de sa mère. Elle dépend également du sexe du faon (+ 20 à + 50 g/j pour les mâles par rapport aux femelles) et de son poids à la naissance (1 kg supplémentaire l...

  15. Récits d´insertion de jeunes et régimes de temporalité Time regimens and young people’s narratives about entering the working world

    Directory of Open Access Journals (Sweden)

    Claude Dubar

    2009-07-01

    Full Text Available Le texte revient sur l’analyse récemment republiée (Analyser les entretiens biographiques, Presses de Laval, 2004 d’un corpus d’entretiens de jeunes racontant leur insertion, en France, au début des années 90. Il ré-interroge ces entretiens sous l’angle des temporalités mises en œuvre dans les quatre types de discours qui sous-tendent ces récits. S’appuyant sur le concept de formes d’historicité issu de l’épistémologie de l’histoire (Kosselleck, Hartog..., il distingue quatre régimes de temporalités selon les relations des jeunes au passé, au présent et à l’avenir. Le régime utopique est de type eschatologique chez les jeunes qui dissocient totalement leur passé de galère et leur espoir de salut grâce à un Autrui puissant. Le régime passéiste est celui des récits de rêve de la petite entreprise indépendante, du métier ou de l’artisanat caractéristique du travail masculin d’hier. Le régime futuriste est celui des jeunes les plus favorisés énonçant un projet et les étapes de sa réalisation. Le régime présentiste est celui des jeunes femmes enfermées dans leurs rôles de salariées non qualifiées et sans carrière et de mères assujetties aux tâches domestiques.The authors return to their recently republished analysis of a body of interviews with young people talking about their professional insertion in France in the early 1990s  (Analyser les entretiens biographiques, Presses de Laval, 2004. They question those interviews afresh from the point of view of the temporalities that intervene in the four types of discourse underlying the narratives. Taking off from the concept of historic forms found in the epistemology of history (Kosselleck, Hartog.., they distinguish four regimens of temporality according to the way the young people relate to the past, the present and the future. The utopian regimen is eschatological for those who dissociate themselves totally from a past of suffering and

  16. Le néo-corporatisme réinterpellé : analyse comparée de deux politiques d'accès à l'emploi, l'apprentissage industriel en Belgique et le contrat de qualification "jeunes" en France

    OpenAIRE

    Levêque, Audrey

    2006-01-01

    L'étude comparative de l'apprentissage industriel en Belgique francophone et du contrat de qualification "jeunes" en France permet de réinterpeller le modèle néo-corporatiste d'Etat social. L'analyse de l'émergence et de la mise en oeuvre de ces deux politiques publiques d'accès à l'emploi pour les jeunes peu qualifiés permet de comprendre comment elles sont réappropriées par les acteurs de terrain et ce, plus particulièrement dans la branche de la métallurgie. Si ces politiques s'adressent t...

  17. [Description of the Parental Alienation Syndrome in a forensic sample].

    Science.gov (United States)

    Vilalta Suárez, Ramón J

    2011-11-01

    The aim of this paper was to assess the presence of the criteria for Parental Alienation Syndrome (PAS) in a sample of families in the process of divorce. Thirty nine records obtained from family cases evaluated by a forensic psychology service were analyzed. A checklist of criteria was made using the description of PAS, these criteria served to confirm their presence by assessing the three actors in the dynamics of the PAS: both parents and the child. The presence of these criteria was analyzed comparing the groups with and without interruption in the contacts. The results showed a strong correlation between the criteria defining the PAS. The presence of these criteria was much higher in the group with interrupted contacts versus the group with uninterrupted ones. However, taking into account the disorders that were computed in visiting parents, there were no differences between both groups. These results seem to confirm the presence of the criteria of PAS in families that are in a process of marriage breakdown with disruptions or conflicts in the visitation rights.

  18. Nailfold video capillaroscopy in Turner syndrome: a descriptive study

    OpenAIRE

    Coelho,Simone C. S.; Ramos,Andressa D.; Pinheiro,Virgínia S.; Solberg,Paulo F. C.; Faria,Janaina P. de; Naliato,Erika C. O.; Fernandes,Therezinha J.; Guimarães,Marília M.

    2007-01-01

    BACKGROUND: An increased prevalence of impaired glucose homeostasis is reported in Turner syndrome. Endothelial changes are described in patients with insulin resistance, which may be present in patients with Turner syndrome. Video capillaroscopy is a noninvasive examination that allows assessment of vascular patency. OBJECTIVE: To describe the nailfold morphology of capillaries in Turner syndrome using video capillaroscopy. METHODS: Subjects were studied in a temperature-controlled room, 20 ...

  19. Effets de l'exposition à un insecticide carbamate, le carbofuran, sur les performances de jeunes stades de brochet (Esox lucius L., 1758 : résultats préliminaires

    Directory of Open Access Journals (Sweden)

    AMBLARD G.

    1998-07-01

    Full Text Available Des lots de jeunes brochets au stade embryon libre, stabulés dans des béchers en verre, ont été exposés en conditions statiques à des solutions (0-250 µg.L-1 de carbofuran, un insecticide carbamate inhibiteur de l'activité de l'acétylcholinestérase (AchE. A partir de 10 µg.L-1, une inhibition significative de l'activité globale de l'AchE des embryons libres a été constatée. A partir de 50 µg.L-1, une diminution significative de la hauteur moyenne de fixation des embryons libres sur les parois des béchers a été observée. L'exposition au carbofuran n'a pas eu d'effet significatif sur le nombre de proies zooplanctoniques ingérées par les jeunes brochets parvenus au début de la phase larvaire ; une diminution de ce paramètre en fonction de concentrations croissantes de carbofuran a cependant été enregistrée. A 250 µg.L-1 , la résorption de la vésicule vitelline ne s'effectuant plus que très partiellement, les embryons libres exposés ne se sont pas transformés en larves. Cette étude montre que l'exposition à des concentrations sublétales de carbofuran est susceptible d'affecter le développement ontogénétique et les performances de jeunes stades de brochet. Un approfondissement de ces travaux est envisagé dans différentes directions.

  20. Descriptive epidemiology of Cornelia de Lange syndrome in Europe

    DEFF Research Database (Denmark)

    Barisic, Ingeborg; Tokic, Visnja; Loane, Maria

    2008-01-01

    Cornelia de Lange syndrome (CdLS) is a multiple congenital anomaly/mental retardation syndrome consisting of characteristic dysmorphic features, microcephaly, hypertrichosis, upper limb defects, growth retardation, developmental delay, and a variety of associated malformations. We present...

  1. Une genese du «parler de soi » du deja-la a l’evocation de l’absent dans l’activite dialogique du tout jeune enfant

    Directory of Open Access Journals (Sweden)

    Amina Bensalah

    2010-12-01

    Full Text Available

    L’analyse porte sur des productions langagières verbales et non-verbales les plus ordinaires entre des adultes et de très jeunes enfants âgés de moins de deux ans. En articulant les notions de l’évocation de l’absent et du déjà-là, notions qui mettent en avant le processus d’une «temporalité-spatialisée», je problématise la genèse d’un soi comme objet qui se donne à voir dans et par l’activité discursive. Mon hypothèse est que, s’agissant du tout jeune enfant qui ne peut donc s’auto-thématiser ni référer à lui-même de façon explicite, c’est bien dans l’évocation d’autrui et d’autres objets du monde qu’indirectement, il nous «parle» de lui. Trois éléments viennent étayer ma réfl exion pour répondre à la problématique posée : les notions de temporalité, de spatialité et d’affect. Elles sont clairement présentes dans les initiatives de demande, dans les mouvements des échanges et dans les séquences «pré-narratives» produites par l’enfant. Au vu des corpus, ces trois notions m’ont paru inséparables du lieu même où elles font ancrage, à savoir : l’interaction et le dialogue avec l’autre. L’approche adoptée dans l’analyse pour argumenter l’idée de l’expression d’un «parler de soi» chez le tout jeune enfant n’est pas tant, au sens strict, de type linguistique que de type pragmatique. Aussi, j’analyse les effets réciproques entre l’interaction et les échanges qui la modèlent.

  2. Descriptive epidemiology of metabolic syndrome among obese adolescent population.

    Science.gov (United States)

    Mahbuba, Sharmin; Mohsin, Fauzia; Rahat, Farhana; Nahar, Jebun; Begum, Tahmina; Nahar, Nazmun

    2018-05-01

    The study was done to assess the magnitude of problems of metabolic syndrome among obese adolescents. It was a cross-sectional study done from January 2013 to June 2014 in paediatric endocrine outpatient department in BIRDEM General Hospital, Dhaka, Bangladesh. Total 172 adolescents having exogenous obesity aged 10-18 years were included. Impaired fasting glucose (IFG), impaired glucose tolerance (IGT) and type 2 diabetes mellitus (DM) were defined as per WHO criteria.The adolescents having Body Mass Index (BMI) ≥95th centile were classified as obese.Waist circumference was measured at the level midway between the lower rib margin & the iliac crest, at the level of umbilicus with the person breathing out gently in centimeter. Hip circumference was measured at the maximum width over the buttocks at the level of the greater trochanters in centimeter. Among 172 obese adolescents, metabolic syndrome was found in 66 patients (38.4%). The commonest metabolic abnormality among those having metabolic syndrome was low HDL level (77.3%) followed by high triglyceride level(71.2%). Glucose intolerance (IFG and/or IGT) was found in 16.7%, Type 2 DM in 10.6%, systolic hypertension in 10.7% and diastolic hypertension in 12.1%. Triglyceride (p = 0.042) and Cholesterol level (p = 0.016) were significantly higher and HDL-cholesterol level (p = 0.000) was significantly lower among obese adolescents having metabolic syndrome. Less physical activity (p = 0.04) was significantly related to the development of metabolic syndrome. On logistic regression analysis male sex, family history of obesity and low HDL-cholesterol correlated to metabolic syndrome. The High rate of metabolic syndrome among obese adolescents is alarming. Copyright © 2018 Diabetes India. Published by Elsevier Ltd. All rights reserved.

  3. Genetics Home Reference: Turner syndrome

    Science.gov (United States)

    ... Email Facebook Twitter Home Health Conditions Turner syndrome Turner syndrome Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Turner syndrome is a chromosomal condition that affects development in ...

  4. Genetics Home Reference: Waardenburg syndrome

    Science.gov (United States)

    ... Email Facebook Twitter Home Health Conditions Waardenburg syndrome Waardenburg syndrome Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Waardenburg syndrome is a group of genetic conditions that can ...

  5. Genetics Home Reference: Usher syndrome

    Science.gov (United States)

    ... Email Facebook Twitter Home Health Conditions Usher syndrome Usher syndrome Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Usher syndrome is a condition characterized by partial or total ...

  6. Genetics Home Reference: Bartter syndrome

    Science.gov (United States)

    ... Email Facebook Twitter Home Health Conditions Bartter syndrome Bartter syndrome Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Bartter syndrome is a group of very similar kidney disorders ...

  7. Image de l'Afrique à travers les dessins d'actualité dans Jeune Afrique (2000-2010) : approche sémio-rhétorique

    OpenAIRE

    Kyalo , Nuru Koki

    2015-01-01

    A caricature is a drawing which belongs to the journalistic genre of comments functioning as a visual editorial. However, as a semiotic object, it has never received the analytical attention it deserves. The thesis that we are defending supports the idea that caricatures use a particular visual language distinct from other images to relay their message. To illustrate our thesis, we used caricatures published between 2000 and 2010 in the news magazine Jeune Afrique. We started from the hypothe...

  8. Dinamiche di scambio tra cinema e letteratura: i sottotitoli di Colette per Jeunes filles en uniforme

    Directory of Open Access Journals (Sweden)

    Paola Palma

    2012-07-01

    Full Text Available Nel 1932 Colette realizza i sottotitoli francesi del film tedesco Mädchen in Uniform (T. fr. : Jeunes filles en uniforme, 1931, diretto da Leontine Sagan e tratto da un testo teatrale di Christa Winsloe. La scrittrice viene interpellata dal distributore francese della pellicola, ma accetta il lavoro solo dopo avere visto il film, che analizza attentamente e giudica estremamente riuscito. Si ha la conferma dell’interesse della scrittrice per il mondo delle immagini in movimento, oltre allo stimolante intrecciarsi di alcuni elementi del plot, dei personaggi e dell’ambientazione del film con quelli dei volumi colettiani delle Claudine, con i quali Mädchen in Uniform condividerà anche una significativa e duratura diffusione e popolarità.Il contatto tra la letteratura e il cinema non si esaurisce quindi nella traduzione di un testo per il cinema da parte di una scrittrice, ma prosegue in più direzioni. Vi è anche l’aspetto pubblicitario (e meramente economico, di cui beneficiano e sono consapevoli entrambe le parti: lo stesso “personaggio” Colette si sovrappone all’immagine che si intende dare di Jeunes filles en uniforme. Il film, inoltre, è uno dei titoli fondamentali negli studi sulla storia del cinema gay e lesbico. In questo ambito, questa collaborazione è significativa in termini di ricezione di una pellicola a sfondo lesbico perché l’accostamento del nome di Colette ha senz’altro contribuito all’accoglienza del film in Francia.En 1932, Colette rédige les sous-titres français du film allemand Mädchen in Uniform (Jeunes filles en uniforme, 1931, adapté par l’Autrichienne Léontine Sagan d’une pièce de Christa Winsloe. L'écrivain est sollicitée par le distributeur français, mais elle n'accepte le travail qu'après avoir vu le film, qu'elle analyse attentivement et juge très réussi. On peut y voir la confirmation de son intérêt pour l'univers des images animées. Mais en outre, on relève de nombreux et

  9. Radiology of syndromes and metabolic disorders

    International Nuclear Information System (INIS)

    Taybi, H.; Lachman, R.

    1989-01-01

    The authors describe both the clinical and radiologic manifestations of 700 syndromes. They provide illustrations describing each syndrome and descriptions of those syndromes discovered since publication of a previous edition

  10. Les principes distributifs des mesures d’insertion des jeunes à l’épreuve du longitudinal Youth integration measures and their criteria tested by a longitudinal approach

    Directory of Open Access Journals (Sweden)

    Léa Lima

    2009-07-01

    Full Text Available La sélection des bénéficiaires des mesures d’action sociale relève d’un problème éthique qui fait l’objet d’une intense activité cognitive et normative de la part d’acteurs publics outillés par l’expertise. Or, l’examen historique des principes distributifs mobilisés dans les politiques d’insertion des jeunes donne à voir la reformulation des référentiels de l’action publique dans un cadre longitudinal ainsi que ses effets sur les présupposés éthiques des politiques. Le principe de discrimination positive consistant à redistribuer les chances d’insertion en faveur des jeunes les moins formés a été énoncé au sein d’une représentation instantanéiste de l’insertion des jeunes. Il perd de sa validité avec l’institutionnalisation des trajectoires. L’éthique de l’accompagnement du parcours qui devient dominante dans les années 1990 perd de vue les inégalités entre groupes de niveau de formation au profit d’une démarche d’organisation de carrières ascendantes permises par les mesures d’action sociale disponibles.Targeting social programs is an ethical problem for administrators. Therefore, they develop an intense cognitive and normative activity with the help of experts in economics. The history of how funds are allocated in support of youth integration policies shows the longitudinal reframing of public policy and its impact on ethical principles. The principle of affirmative action consisting in redistributing offers among less qualified youth has been formulated according to a static representation of youth integration. It loses its validity with the institutionalization of individual itineraries. The ethic of pathway support that became dominant in the 1990s lost sight of the inequality between groups levels of qualification no longer appeared relevant and gave way to the organization of upwardly mobile careers made possible by the social programs at hand.

  11. La précarité au Québec : un concept parmi d’autres pour parler des jeunes

    Directory of Open Access Journals (Sweden)

    Madeleine Gauthier

    2011-04-01

    Full Text Available Ce texte met en contexte l’usage du concept de précarité au Québec. Celui-ci a surtout été utilisé parmi beaucoup d’autres pour décrire la situation des jeunes au moment de la crise de l’emploi des décennies 1970 et 1980. Il a parfois contribué, par son attribution à l’ensemble des jeunes, à laisser les plus vulnérables dans l’ombre et à amplifier l’effet du travail atypique sur l’avenir de toute une génération. Un usage plus modéré du concept s’est imposé progressivement en présence de faits plus justement vérifiés. Sa force de persuasion a pu susciter des stratégies tant individuelles que collectives en faveur des jeunes. Ce retour dans le temps a permis de montrer que les jeunes sont sensibles à la conjoncture mais n’en restent pas pour autant les victimes. Est-ce à cause du type d’État (de Gøsta Esping-Anderson, évoqué par Mircea Vultur que le concept n’a eu qu’une importance relative au Québec ? La question se pose-t-elle dans une approche pragmatique du changement ?"Precariousness" in Québec: one of several concepts applied to young peopleThis paper examines the concept of "precariousness" in a Québec context. This concept was one of several used to describe the situation of young people during the employment crisis of the 1970s and 1980s. It was applied to young people as a whole and thus sometimes favoured a tendency to gloss over the highly vulnerable situations and to amplify the effect of non-standard employment on the future of an entire generation. More moderate use of the concept gradually prevailed with more accurate data. It was a persuasive concept that did bring about individual and collective strategies to help young people. This look backward in time shows that young people are sensitive to the economy and its performance. They are nonetheless not permanently victims of economic downturn. Is the type of welfare state (Esping-Anderson as argued by Vultur the reason why

  12. Genetics Home Reference: Coffin-Siris syndrome

    Science.gov (United States)

    ... Facebook Twitter Home Health Conditions Coffin-Siris syndrome Coffin-Siris syndrome Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Coffin-Siris syndrome is a condition that affects several body ...

  13. Genetics Home Reference: fragile X syndrome

    Science.gov (United States)

    ... Facebook Twitter Home Health Conditions Fragile X syndrome Fragile X syndrome Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Fragile X syndrome is a genetic condition that causes a ...

  14. Genetics Home Reference: Ehlers-Danlos syndrome

    Science.gov (United States)

    ... Facebook Twitter Home Health Conditions Ehlers-Danlos syndrome Ehlers-Danlos syndrome Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Ehlers-Danlos syndrome is a group of disorders that affect connective ...

  15. Sarcome à cellules claires du rein : À propos d’un cas chez un jeune de 17 ans

    Science.gov (United States)

    Mazdar, Adil; Sakel, Adil Ait; Essatara, Younes; Beddouche, Ali; Elsayegh, Hachem; Iken, Ali; Benslimane, Lounis; Nouini, Yassine

    2014-01-01

    Résumé Le sarcome à cellules claires du rein (SCCR) se voit très rarement chez les jeunes. Il est caractérisé par une évolution agressive marquée par un taux élevé de récidive et de mortalité. Nous rapportons le cas d’un SCCR chez un patient de 17 ans et nous discutons de son apport et de son intérêt médical en vue d’une bonne prise en charge thérapeutique. L’agressivité du SCCR et la prolifération de métastases surtout osseuses impliquent qu’il ne faut pas méconnaître ce diagnostic afin de mettre en place un traitement adapté. PMID:24940474

  16. Thoughts on the behavioural phenotypes in Prader-Willi syndrome and velo-cardio-facial syndrome: A novel approach

    NARCIS (Netherlands)

    Verhoeven, W.M.A.; Egger, J.I.M.; Tuinier, S.

    2007-01-01

    In both Prader-Willi syndrome (PWS) and 22q11 deletion syndrome [velo-cardio-facial syndrome (VCFS)], an increased risk for psychotic disorders is reported, which are as a rule not included in the behavioural phenotype of these two syndromes. For the description of a behavioural phenotype, the

  17. Genetics Home Reference: Smith-Lemli-Opitz syndrome

    Science.gov (United States)

    ... Twitter Home Health Conditions Smith-Lemli-Opitz syndrome Smith-Lemli-Opitz syndrome Printable PDF Open All Close ... Javascript to view the expand/collapse boxes. Description Smith-Lemli-Opitz syndrome is a developmental disorder that ...

  18. Genetics Home Reference: acral peeling skin syndrome

    Science.gov (United States)

    ... Home Health Conditions Acral peeling skin syndrome Acral peeling skin syndrome Printable PDF Open All Close All ... to view the expand/collapse boxes. Description Acral peeling skin syndrome is a skin disorder characterized by ...

  19. Genetics Home Reference: hyperparathyroidism-jaw tumor syndrome

    Science.gov (United States)

    ... Twitter Home Health Conditions Hyperparathyroidism-jaw tumor syndrome Hyperparathyroidism-jaw tumor syndrome Printable PDF Open All Close ... Javascript to view the expand/collapse boxes. Description Hyperparathyroidism-jaw tumor syndrome is a condition characterized by ...

  20. Genetics Home Reference: Pearson marrow-pancreas syndrome

    Science.gov (United States)

    ... Health Conditions Pearson marrow-pancreas syndrome Pearson marrow-pancreas syndrome Printable PDF Open All Close All Enable ... view the expand/collapse boxes. Description Pearson marrow-pancreas syndrome is a severe disorder that usually begins ...

  1. Severe hypertensive syndrome – descriptive study with adolescents attended at a maternity school

    Directory of Open Access Journals (Sweden)

    Andreia Gregório Lima

    2012-06-01

    Full Text Available This is an exploratory and descriptive study with the objective of analyzing the clinical and obstetric data related to the severe hypertensive disorders in adolescents assisted at a maternity school of Recife. The population was consisted of 186 pregnant adolescents with severe preeclampsia and/or eclampsia between 2003 and 2008. The age ranged between 15 and 19 years; they were black, single and had low education. Most of them were primiparas but the pregnancy recurrence was configured at 16% of cases. They did six or more prenatal consultations. The pregnancy progressed to term and the most frequent type of delivery was cesarean section. The comorbidities identified were changes in amniotic fluid volume, hemorrhages and infections. There were also identified cases of intrauterine growth retardation, prematurity, jaundice, hypoxia and low birth weight. It was concluded that teenage pregnancy associated with severe hypertensive syndrome is related to severe maternal, fetal and neonatal complications.

  2. Concomitant occurrence of cochleosaccular dysplasia and Down's syndrome.

    Science.gov (United States)

    Walby, A P; Schuknecht, H F

    1984-07-01

    Inherited cochleosaccular dysplasia occurred in a woman coincidentally with Down's syndrome. Study of the right temporal bone revealed abnormalities of the cochlea and saccule consistent with Scheibe 's original description. There was also a short cochlea and small lateral semicircular canal consistent with previous descriptions of Down's syndrome.

  3. Cases of Trichohepatoenteric Syndrome (Syndromic Diarrhea with Underlying Crohn’s Disease

    Directory of Open Access Journals (Sweden)

    Е. А. Roslavtseva

    2015-01-01

    Full Text Available Tricho-hepato-enteric syndrome (syndromic, phenotypic diarrhea, SD/THES is a rare inborn disease, which affects bowels. It is caused by the mutation of genes SKIV2L or TTC37. Manifestations include intrauterine hypotrophy, severe chronic diarrhea, which starts in infancy, characteristic facial features and hair growth abnormalities, immune disorders. There are data on two patients dealing with tricho-hepato-enteric syndrome with underlying Crohn’s disease. This is the first description of cases of aggravated tricho-hepatoenteric syndrome ever found in Russian medical literature. 

  4. Genetics Home Reference: SOX2 anophthalmia syndrome

    Science.gov (United States)

    ... Twitter Home Health Conditions SOX2 anophthalmia syndrome SOX2 anophthalmia syndrome Printable PDF Open All Close All Enable ... to view the expand/collapse boxes. Description SOX2 anophthalmia syndrome is a rare disorder characterized by abnormal ...

  5. Congenital Auricular Malformations: Description of Anomalies and Syndromes.

    Science.gov (United States)

    Bartel-Friedrich, Sylva

    2015-12-01

    Half of the malformations in the ear, nose, and throat region affect the ear. Malformations of the external ear (pinna or auricle with external auditory canal [EAC]) are collectively termed microtia. Microtia is a congenital anomaly that ranges in severity from mild structural abnormalities to complete absence of the external ear (anotia). Microtia occurs more frequently in males (∼2 or 3:1), is predominantly unilateral (∼70-90%), and more often involves the right ear (∼60%). The reported prevalence varies geographically from 0.83 to 17.4 per 10,000 births. Microtia may be genetic (with family history, spontaneous mutations) or acquired. Malformations of the external ear can also involve the middle ear and/or inner ear. Microtia may be an isolated birth defect, but associated anomalies or syndromes are described in 20 to 60% of cases, depending on study design. These generally fit within the oculo-auriculo-vertebral spectrum; defects are located most frequently in the facial skeleton, facial soft tissues, heart, and vertebral column, or comprise a syndrome (e.g., Treacher Collins syndrome). Diagnostic investigation of microtia includes clinical examination, audiologic testing, genetic analysis and, especially in higher grade malformations with EAC deformities, computed tomography (CT) or cone-beam CT for the planning of surgery and rehabilitation procedures, including implantation of hearing aids. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

  6. Development of a standardized job description for healthcare managers of metabolic syndrome management programs in Korean community health centers.

    Science.gov (United States)

    Lee, Youngjin; Choo, Jina; Cho, Jeonghyun; Kim, So-Nam; Lee, Hye-Eun; Yoon, Seok-Jun; Seomun, GyeongAe

    2014-03-01

    This study aimed to develop a job description for healthcare managers of metabolic syndrome management programs using task analysis. Exploratory research was performed by using the Developing a Curriculum method, the Intervention Wheel model, and focus group discussions. Subsequently, we conducted a survey of 215 healthcare workers from 25 community health centers to verify that the job description we created was accurate. We defined the role of healthcare managers. Next, we elucidated the tasks of healthcare managers and performed needs analysis to examine the frequency, importance, and difficulty of each of their duties. Finally, we verified that our job description was accurate. Based on the 8 duties, 30 tasks, and 44 task elements assigned to healthcare managers, we found that the healthcare managers functioned both as team coordinators responsible for providing multidisciplinary health services and nurse specialists providing health promotion services. In terms of importance and difficulty of tasks performed by the healthcare managers, which were measured using a determinant coefficient, the highest-ranked task was planning social marketing (15.4), while the lowest-ranked task was managing human resources (9.9). A job description for healthcare managers may provide basic data essential for the development of a job training program for healthcare managers working in community health promotion programs. Copyright © 2014. Published by Elsevier B.V.

  7. Genetics Home Reference: thiamine-responsive megaloblastic anemia syndrome

    Science.gov (United States)

    ... Thiamine-responsive megaloblastic anemia syndrome Thiamine-responsive megaloblastic anemia syndrome Printable PDF Open All Close All Enable ... the expand/collapse boxes. Description Thiamine-responsive megaloblastic anemia syndrome is a rare condition characterized by hearing ...

  8. Genetics Home Reference: type A insulin resistance syndrome

    Science.gov (United States)

    ... Conditions Type A insulin resistance syndrome Type A insulin resistance syndrome Printable PDF Open All Close All Enable ... view the expand/collapse boxes. Description Type A insulin resistance syndrome is a rare disorder characterized by severe ...

  9. First report of microcephaly-capillary malformations syndrome in ...

    African Journals Online (AJOL)

    Background: Microcephaly-capillary malformation (MIC-CAP) syndrome is a newly described autosomal recessive syndrome characterized by microcephaly, multiple cutaneous capillary malformations, intractable epilepsy and profound developmental delay. We present the first description of MIC-CAP syndrome in Russia.

  10. De la rage à l'enthousiasme : le parcours d'un jeune électeur saoudien

    Directory of Open Access Journals (Sweden)

    Pascal Ménoret

    2004-12-01

    Full Text Available Comment apprend-on le métier d'électeur dans une société autoritairement dépolitisée ? Cet entretien approfondi, réalisé avec un jeune électeur saoudien au lendemain de la victoire du courant religieux modéré aux élections municipale de février 2005 à Riyad, permet d'avancer quelques éléments de réponse. On verra ainsi que des dispositions politiques susceptibles d'être réinvesties dans l'activisme électoral ont pu être puisées par les plus fervents partisans du processus électoral dans les schèmes de pensée et d'acion propres aux groupes islamiques des écoles, aux cercles coraniques des mosquées et aux centres d'été du ministère des Affaires islamiques. L'activisme islamique n'est pas foncièrement incompatible avec un processus de démocratisation ; encore faut-il que la « rage » contractée au spectacle de la dictature et des injustices occidentales puisse se transformer en « enthousiasme » politique et électoral.

  11. Insights into thermoregulation: A clinico-radiological description of Shapiro syndrome.

    LENUS (Irish Health Repository)

    Pazderska, Agnieszka

    2013-06-15

    Shapiro syndrome is a rare entity, comprising a triad of recurrent hypothermia, hyperhidrosis and congenital agenesis of the corpus callosum. Fewer than 50 cases have been described, almost invariably in patients presenting in childhood or early adulthood. We present a case of an 80year old woman presenting with recurrent bouts of shivering, sweating and profound malaise, who sought medical attention because the frequency and severity of attacks worsened in her later years. MRI Brain demonstrated agenesis of the corpus callosum; a rigorous work-up excluded other causes for her symptomatology. The intricate interplay of neuronal networks involved in thermoregulation remains to be fully elucidated and as such, little is known about the pathophysiological mechanisms underlying the clinical manifestations of Shapiro syndrome. We present novel data from FDG-PET imaging of our patient, demonstrating hypermetabolism in a number of brainstem and cerebellar regions during the symptomatic phase. These findings imply that aberrant thermoregulation in Shapiro syndrome involves a number of structures remote from the callosal region. We also present neuropsychometric findings in our patient, of which there have been no reports to date. We postulate that the ageing brain may be more susceptible to the paroxysmal neurochemical fluxes implicated in the syndrome.

  12. [A phenotypic description of 26 patients with Ritscher-Schinzel syndrome (cranio-cerebello-cardiac dysplasia or 3C syndrome)].

    Science.gov (United States)

    Pira-Paredes, S M; Montoya-Villada, J H; Franco-Restrepo, J L; Moncada-Velez, M; Cornejo, J W

    2017-06-01

    Ritscher-Schinzel syndrome (also known as cranio-cerebello-cardiac dysplasia or 3C syndrome) is a rare genetic syndrome that is mainly characterised by the association of cardiac and craniofacial anomalies together with others affecting the posterior fossa. We report on 26 patients with Ritscher-Schinzel syndrome at a hospital in Medellin, in the Department of Antioquia, Colombia. Males account for 69% of this cohort. The mean age of the cohort was 30 months, and 42% were under the age of one year at the time of diagnosis. All of them presented ocular disorders, and megalocornea was the most frequent ocular manifestation (69%), whereas low-set ears (80.7%) and septal heart defects (68.7%) were the most common facial and cardiac malformations, respectively. The most frequent malformations of the posterior fossa were megacisterna magna (31.8%) and Dandy-Walker malformation (27%). 84% of the cases had delayed neurodevelopment or intellectual disability. Skeletal manifestations were frequent: the group consisting of camptodactyly, single palmar crease, overlapping fingers, vertical talus and nail hypoplasia were found in hands and feet in 96% of the cases. Ritscher-Schinzel syndrome is a heterogeneous syndrome from the genetic and clinical point of view. These results suggest that the skeletal and ocular abnormalities that were observed can facilitate the phenotypic diagnosis. However, it is necessary to conduct further studies that allow us to gain a deeper knowledge of its prevalence and help identify other genes involved in this syndrome.

  13. Bleeding diathesis in Noonan syndrome

    NARCIS (Netherlands)

    Staudt, Joost M.; van der Horst, Chantal M. A. M.; Peters, Marjolijn; Melis, Paris

    2005-01-01

    An 18-year-old girl with Noonan syndrome was operated on for prominent ears. Subcutaneous haematomas developed on both sides, and coagulation tests reported a bleeding diathesis. This is seldom mentioned in descriptions of the syndrome, but it has been shown that one-third of all patients with the

  14. Genetics Home Reference: Mayer-Rokitansky-Küster-Hauser syndrome

    Science.gov (United States)

    ... Home Health Conditions Mayer-Rokitansky-Küster-Hauser syndrome Mayer-Rokitansky-Küster-Hauser syndrome Printable PDF Open All ... Javascript to view the expand/collapse boxes. Description Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a disorder ...

  15. Eosinophilic Granulomatosis with Polyangiitis, formerly Churg-Strauss Syndrome (EGPA)

    Science.gov (United States)

    ... Strauss Syndrome (EGPA) Eosinophilic Granulomatosis with Polyangiitis, formerly Churg-Strauss Syndrome (EGPA) First Description Who gets EGPA (the “ ... granulomatosis with polyangiitis (EGP), formerly known as the Churg-Strauss Syndrome , is a systemic vasculitis. This disease was ...

  16. Genetics Home Reference: alpha thalassemia X-linked intellectual disability syndrome

    Science.gov (United States)

    ... Alpha thalassemia X-linked intellectual disability syndrome Alpha thalassemia X-linked intellectual disability syndrome Printable PDF Open ... to view the expand/collapse boxes. Description Alpha thalassemia X-linked intellectual disability syndrome is an inherited ...

  17. Bouveret's Syndrome: diagnostic considerations

    International Nuclear Information System (INIS)

    Cooper, S.G.; Sherman, S.B.; Steinhardt, J.E.; Wilson, J.M. Jr.; Richman, A.H.

    1987-01-01

    Bouveret's syndrome is a rare disease entity manifested by the formation of a cholecystoduodenal or choledochoduodenal fistula with passage of a gallstone into the duodenal bulb and subsequent obstruction of the gastric outlet. To date, no report of this entity using computed tomographic (CT) imaging is available. This article presents a case of Bouveret's syndrome with the classic findings on upper gastrointestinal (GI) tract series and a description of the CT manifestations. The literature is reviewed with discussion of the diagnostic approach to patients with Bouveret's syndrome

  18. Illustrer des données d’entretiens sur cartes sémantiques pour examiner le développement du vocabulaire de jeunes enfants

    Directory of Open Access Journals (Sweden)

    Catherine Turcotte

    2016-06-01

    Full Text Available Abstract Résumé L’évaluation du vocabulaire auprès de jeunes enfants est un défi puisque peu d’instruments tiennent compte des processus d’apprentissage du vocabulaire. S’appuyant sur les connaissances relatives au développement des champs lexicaux, cet article propose d’organiser et de présenter, sous forme de cartes sémantiques, des données recueillies à partir d’entretiens. Afin de présenter la contribution d’une telle démarche, deux de ces cartes sont exposées, illustrant le vocabulaire expressif de deux enfants de 4 et 6 ans interrogés à trois reprises, avant et après une activité portant sur les quatre saisons. Les avantages et les limites de cette démarche sont décrits et discutés, puisque cet article a comme visée de contribuer à la création de nouveaux instruments et de nouvelles méthodes, complémentaires aux instruments déjà existants afin d’évaluer le vocabulaire de jeunes enfants. Abstract The evaluation of young children’s vocabulary is a challenge because few instruments reflect the vocabulary learning process. Based on knowledge about the development of lexical fields, this article proposes to organize and present data collected from interviews with the help of semantic maps. In order to describe the contribution of such an approach, two of these semantic maps are exposed, showing the expressive vocabulary of two children of 4 and 6 years of age before and after a learning activity on the four seasons. The advantages and limits of this approach are described and discussed, since this article intends to contribute to the creation of new instruments and new methods, complementary to existing instruments assessing the vocabulary of young children.

  19. Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort.

    Science.gov (United States)

    Lavoine, N; Colas, C; Muleris, M; Bodo, S; Duval, A; Entz-Werle, N; Coulet, F; Cabaret, O; Andreiuolo, F; Charpy, C; Sebille, G; Wang, Q; Lejeune, S; Buisine, M P; Leroux, D; Couillault, G; Leverger, G; Fricker, J P; Guimbaud, R; Mathieu-Dramard, M; Jedraszak, G; Cohen-Hagenauer, O; Guerrini-Rousseau, L; Bourdeaut, F; Grill, J; Caron, O; Baert-Dusermont, S; Tinat, J; Bougeard, G; Frébourg, T; Brugières, L

    2015-11-01

    Constitutional mismatch repair deficiency (CMMRD) syndrome is a childhood cancer predisposition syndrome involving biallelic germline mutations of MMR genes, poorly recognised by clinicians so far. Retrospective review of all 31 patients with CMMRD diagnosed in French genetics laboratories in order to describe the characteristics, treatment and outcome of the malignancies and biological diagnostic data. 67 tumours were diagnosed in 31 patients, 25 (37%) Lynch syndrome-associated malignancies, 22 (33%) brain tumours, 17 (25%) haematological malignancies and 3 (5%) sarcomas. The median age of onset of the first tumour was 6.9 years (1.2-33.5). Overall, 22 patients died, 9 (41%) due to the primary tumour. Median survival after the diagnosis of the primary tumour was 27 months (0.26-213.2). Failure rate seemed to be higher than expected especially for T-cell non-Hodgkin's lymphoma (progression/relapse in 6/12 patients). A familial history of Lynch syndrome was identified in 6/23 families, and consanguinity in 9/23 families. PMS2 mutations (n=18) were more frequent than other mutations (MSH6 (n=6), MLH1 (n=4) and MSH2 (n=3)). In conclusion, this unselected series of patients confirms the extreme severity of this syndrome with a high mortality rate mostly related to multiple childhood cancers, and highlights the need for its early detection in order to adapt treatment and surveillance. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

  20. Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

    Science.gov (United States)

    Schmidts, Miriam; Arts, Heleen H; Bongers, Ernie M H F; Yap, Zhimin; Oud, Machteld M; Antony, Dinu; Duijkers, Lonneke; Emes, Richard D; Stalker, Jim; Yntema, Jan-Bart L; Plagnol, Vincent; Hoischen, Alexander; Gilissen, Christian; Forsythe, Elisabeth; Lausch, Ekkehart; Veltman, Joris A; Roeleveld, Nel; Superti-Furga, Andrea; Kutkowska-Kazmierczak, Anna; Kamsteeg, Erik-Jan; Elçioğlu, Nursel; van Maarle, Merel C; Graul-Neumann, Luitgard M; Devriendt, Koenraad; Smithson, Sarah F; Wellesley, Diana; Verbeek, Nienke E; Hennekam, Raoul C M; Kayserili, Hulya; Scambler, Peter J; Beales, Philip L; Knoers, Nine VAM; Roepman, Ronald; Mitchison, Hannah M

    2013-01-01

    Background Jeune asphyxiating thoracic dystrophy (JATD) is a rare, often lethal, recessively inherited chondrodysplasia characterised by shortened ribs and long bones, sometimes accompanied by polydactyly, and renal, liver and retinal disease. Mutations in intraflagellar transport (IFT) genes cause JATD, including the IFT dynein-2 motor subunit gene DYNC2H1. Genetic heterogeneity and the large DYNC2H1 gene size have hindered JATD genetic diagnosis. Aims and methods To determine the contribution to JATD we screened DYNC2H1 in 71 JATD patients JATD patients combining SNP mapping, Sanger sequencing and exome sequencing. Results and conclusions We detected 34 DYNC2H1 mutations in 29/71 (41%) patients from 19/57 families (33%), showing it as a major cause of JATD especially in Northern European patients. This included 13 early protein termination mutations (nonsense/frameshift, deletion, splice site) but no patients carried these in combination, suggesting the human phenotype is at least partly hypomorphic. In addition, 21 missense mutations were distributed across DYNC2H1 and these showed some clustering to functional domains, especially the ATP motor domain. DYNC2H1 patients largely lacked significant extra-skeletal involvement, demonstrating an important genotype–phenotype correlation in JATD. Significant variability exists in the course and severity of the thoracic phenotype, both between affected siblings with identical DYNC2H1 alleles and among individuals with different alleles, which suggests the DYNC2H1 phenotype might be subject to modifier alleles, non-genetic or epigenetic factors. Assessment of fibroblasts from patients showed accumulation of anterograde IFT proteins in the ciliary tips, confirming defects similar to patients with other retrograde IFT machinery mutations, which may be of undervalued potential for diagnostic purposes. PMID:23456818

  1. Influence des conditions d'engorgement du sol sur l'évolution de l'état hydrique de jeunes plants d'Epicéa (Picea abies L.)

    OpenAIRE

    Granier, André; Levy, G.

    1981-01-01

    De jeunes plants d’Epicéa ont été soumis à différents types d’engorgement : nappe en surface ou à différentes profondeurs, > (barbotage d’air ou renouvellement quotidien de l’eau) ou non. L’état hydrique des plants a été évalué au moyen de la pression de sève, soit en conditions de transpiration nulle (pression de base), soit lorsqu’il y a transpiration. Les principaux résultats sont les suivants : - la pression de base des plants (mesures nocturnes) diminue au cours des premiers jours ...

  2. An Individual with Gilles de la Tourette Syndrome and Smith-Magenis Microdeletion Syndrome: Is Chromosome 17p11.2 a Candidate Region for Tourette Syndrome Putative Susceptibility Genes?

    Science.gov (United States)

    Shelley, B. P.; Robertson, M. M.; Turk, J.

    2007-01-01

    This is the first published case description in the current literature of the association of definite Gilles de la Tourette syndrome (GTS) and the Smith-Magenis syndrome (SMS), both confirmed by DSM-IV-TR criteria and molecular cytogenetic analysis, respectively. The co-occurrence of GTS, SMS and their common behavioural/neuropsychiatric…

  3. Genetics Home Reference: MPV17-related hepatocerebral mitochondrial DNA depletion syndrome

    Science.gov (United States)

    ... DNA depletion syndrome MPV17-related hepatocerebral mitochondrial DNA depletion syndrome Printable PDF Open All Close All Enable ... collapse boxes. Description MPV17 -related hepatocerebral mitochondrial DNA depletion syndrome is an inherited disorder that can cause ...

  4. The Whiplash Shaken Infant Syndrome: Has Caffey's Syndrome Changed or Have We Changed His Syndrome?.

    Science.gov (United States)

    Lazoritz, Stephen; Baldwin, Sandra; Kini, Narendra

    1997-01-01

    This study examined recent literature describing the Shaken Infant Syndrome and compared it to John Caffey's original descriptions in 1946. Retrospective evaluation of 71 recent cases and 27 case examples offered by Caffey was also performed. Results indicated the recent cases more likely to involve impact trauma, male perpetrators, and admission…

  5. Burning mouth syndrome: Clinical description, pathophysiological approach, and a new therapeutic option.

    Science.gov (United States)

    Cárcamo Fonfría, A; Gómez-Vicente, L; Pedraza, M I; Cuadrado-Pérez, M L; Guerrero Peral, A L; Porta-Etessam, J

    2017-05-01

    Burning mouth syndrome is defined as scorching sensation in the mouth in the absence of any local lesions or systemic disease that would explain that complaint. The condition responds poorly to commonly used treatments and it may become very disabling. We prospectively analysed the clinical and demographic characteristics and response to treatment in 6 cases of burning mouth syndrome, diagnosed at 2 tertiary hospital headache units. Six female patients between the ages of 34 and 82 years reported symptoms compatible with burning mouth syndrome. In 5 of them, burning worsened at the end of the day; 4 reported symptom relief with tongue movements. Neurological examinations and laboratory findings were normal in all patients and their dental examinations revealed no buccal lesions. Each patient had previously received conventional treatments without amelioration. Pramipexol was initiated in doses between 0.36mg and 1.05mg per day, resulting in clear improvement of symptoms in all cases, a situation which continues after a 4-year follow up period. Burning mouth syndrome is a condition of unknown aetiology that shares certain clinical patterns and treatment responses with restless leg syndrome. Dopamine agonists should be regarded as first line treatment for this entity. Copyright © 2015 Sociedad Española de Neurología. Publicado por Elsevier España, S.L.U. All rights reserved.

  6. The definition of the Brugada syndrome.

    Science.gov (United States)

    Sieira, Juan; Brugada, Pedro

    2017-10-21

    Brugada syndrome (BS) is an inherited disease characterized by a coved-type ST-segment elevation in the right precordial leads and increased risk of sudden cardiac death (SCD), in the absence of structural abnormalities. The cornerstone of BS diagnosis and definition, is its characteristic ECG pattern that can be present spontaneously or unmasked by drugs. Brugada syndrome was first described 25 years ago; paradoxically, in an era of great technological development, a new syndrome was described with a technology developed almost a century before. Great scientific knowledge has been gathered since the description of the syndrome. The better understanding of its pathophysiology and genetic basis has led to several modifications in its definition. Despite these facts, the essential, the description of the specific ECG pattern has remained almost unchanged since the initial report. In this article, we present the definition of the BS, the rationale behind it and our thoughts about its future. Published on behalf of the European Society of Cardiology. All rights reserved. © The Author 2017. For permissions, please email: journals.permissions@oup.com.

  7. Liddle Syndrome: Review of the Literature and Description of a New Case

    Directory of Open Access Journals (Sweden)

    Martina Tetti

    2018-03-01

    Full Text Available Liddle syndrome is an inherited form of low-renin hypertension, transmitted with an autosomal dominant pattern. The molecular basis of Liddle syndrome resides in germline mutations of the SCNN1A, SCNN1B and SCNN1G genes, encoding the α, β, and γ-subunits of the epithelial Na+ channel (ENaC, respectively. To date, 31 different causative mutations have been reported in 72 families from four continents. The majority of the substitutions cause an increased expression of the channel at the distal nephron apical membrane, with subsequent enhanced renal sodium reabsorption. The most common clinical presentation of the disease is early onset hypertension, hypokalemia, metabolic alkalosis, suppressed plasma renin activity and low plasma aldosterone. Consequently, treatment of Liddle syndrome is based on the administration of ENaC blockers, amiloride and triamterene. Herein, we discuss the genetic basis, clinical presentation, diagnosis and treatment of Liddle syndrome. Finally, we report a new case in an Italian family, caused by a SCNN1B p.Pro618Leu substitution.

  8. Genetics Home Reference: fragile X-associated tremor/ataxia syndrome

    Science.gov (United States)

    ... Share: Email Facebook Twitter Home Health Conditions FXTAS Fragile X-associated tremor/ataxia syndrome Printable PDF Open All ... Javascript to view the expand/collapse boxes. Description Fragile X-associated tremor/ataxia syndrome ( FXTAS ) is characterized by ...

  9. Electrodiagnostic findings in a patient with Waardenburg syndrome.

    Science.gov (United States)

    Ahmed, Aiesha; Simmons, Zachary

    2009-09-01

    Waardenburg syndrome is associated with a variety of clinical features, which may include polyneuropathy. We describe a patient with Waardenburg syndrome type 2 and provide detailed electrodiagnostic findings, thus complementing the biopsy data and brief descriptions of nerve conduction studies found in the literature.

  10. Veulent-ils encore une carte de presse ? Les jeunes journalistes de Belgique francophone

    Directory of Open Access Journals (Sweden)

    Olivier Standaert

    2013-12-01

    Full Text Available Cet article questionne les formes identitaires développées par les jeunes journalistesbelges lorsque se pose à eux la question de la possession de la carte de presse. La méthodologie s’appuie sur une étude descriptive du profil professionnel des jeunes journalistes et sur des entretiens non directifs menés auprès de journalistes, encartés ou non, ayant moins de cinq ans d’ancienneté. Il apparaît qu’une part importante d’entre eux ne répond plus, et ce durant une période de plus en plus longue, aux critères stricts d’obtention de la carte de presse tels que définis par les autorités belges. La carte de presse est par conséquent souvent sollicitée après l’insertion effective sur le marché du travail. Ceci peut s’expliquer par la précarisation des conditions d’insertion dans le groupe professionnel des journalistes. La montée de la précarisation au sein des médias d’information générale est une des hypothèses explicatives du décalage fréquemment constaté entre les formes identitaires traditionnelles, attachées à la carte de presse, et celles des jeunes journalistes, dominées par la figure de l’individu précaire, flexible et substituable en dépit d’une vocation affichée. Les entretiens mettent cependant en évidence un discours ambivalent où une rhétorique d’indifférence, de questionnement, voire de rejet par rapport à tout document se donnant un pouvoir d’authentifier qui est journaliste et qui ne l’est pas, côtoie un discours de conciliation et d’adhésion, mettant en avant la force symbolique de cette carte et la forme d’aboutissement identitaire que sa délivrance continue d’incarner. Il est significatif de noter que les instances d’agréation adaptent leurs pratiques, plus que leurs discours, à ces nouvelles situations professionnelles et aux identités qui en découlent : la délivrance de la carte de presse se fait de plus en plus au cas par cas, et avec une certaine

  11. Metabolic syndrome in acute coronary syndrome

    International Nuclear Information System (INIS)

    Bhalli, M.A.; Aamir, M.; Mustafa, G.

    2011-01-01

    Objective: To determine the frequency of metabolic syndrome in male patients presenting with acute coronary syndrome Study design: A Descriptive study Place and duration of study: Armed Forces Institute of Cardiology and National Institute of Heart Diseases, Rawalpindi, from October 2007 to September 2008 Patients and Methods: Male patients with acute coronary syndrome (ACS) were included. Patients having angioplasty (PCI), coronary artery bypass surgery in the past and other co-morbid diseases were excluded. All patients were assessed for the presence of five components of metabolic syndrome including hypertension, HDL-Cholesterol and triglycerides, glucose intolerance and abdominal obesity. Systolic, diastolic blood pressures, waist circumference (WC) and body mass index (BMI) were measured. ECG, cardiac enzymes, fasting glucose and lipid profile were also done. Results: A total of 135 male patients of ACS were studied with a mean age of 54.26 +- 11 years. Metabolic syndrome (MS) was present in 55 (40.7%) patients. MS with all five components was documented in 4 (7.27%) while MS with four and three components was seen in 23 (41.81%) and 28 (50.90%) patients respectively. Only 24 (43.63%) patients with MS had diabetes mellitus, remaining 31(56.36%) were non diabetic. Frequencies of diabetes, hypertension and family history of CAD were significantly higher (p<0.05) in patients with metabolic syndrome as compared to patients with normal metabolic status. Conclusion: Metabolic syndrome is fairly common and important risk factor in patients of IHD. Other risk factors like smoking, dyslipidemia, hypertension and diabetes were also frequently found. Public awareness to control the risk factors can reduce the prevalence of CAD in our country. (author)

  12. Metabolic syndrome in acute coronary syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Bhalli, M A; Aamir, M; Mustafa, G [Combined Military Hospital, Abbottabad (Pakistan)

    2011-06-15

    Objective: To determine the frequency of metabolic syndrome in male patients presenting with acute coronary syndrome Study design: A Descriptive study Place and duration of study: Armed Forces Institute of Cardiology and National Institute of Heart Diseases, Rawalpindi, from October 2007 to September 2008 Patients and Methods: Male patients with acute coronary syndrome (ACS) were included. Patients having angioplasty (PCI), coronary artery bypass surgery in the past and other co-morbid diseases were excluded. All patients were assessed for the presence of five components of metabolic syndrome including hypertension, HDL-Cholesterol and triglycerides, glucose intolerance and abdominal obesity. Systolic, diastolic blood pressures, waist circumference (WC) and body mass index (BMI) were measured. ECG, cardiac enzymes, fasting glucose and lipid profile were also done. Results: A total of 135 male patients of ACS were studied with a mean age of 54.26 +- 11 years. Metabolic syndrome (MS) was present in 55 (40.7%) patients. MS with all five components was documented in 4 (7.27%) while MS with four and three components was seen in 23 (41.81%) and 28 (50.90%) patients respectively. Only 24 (43.63%) patients with MS had diabetes mellitus, remaining 31(56.36%) were non diabetic. Frequencies of diabetes, hypertension and family history of CAD were significantly higher (p<0.05) in patients with metabolic syndrome as compared to patients with normal metabolic status. Conclusion: Metabolic syndrome is fairly common and important risk factor in patients of IHD. Other risk factors like smoking, dyslipidemia, hypertension and diabetes were also frequently found. Public awareness to control the risk factors can reduce the prevalence of CAD in our country. (author)

  13. lutembacher's syndrome: a rare combination of congenital and ...

    African Journals Online (AJOL)

    FOBUR

    Lutembacher's syndrome is defined as the rare combination of congenital atrial septal defect and acquired ... atrial septal defect. The definition of Lutembacher's syndrome has undergone many changes. The earliest description in medical literature was found in a letter written ... atrial fibrillation with her chest x-ray showing.

  14. 3-M syndrome: description of six new patients with review of the literature.

    NARCIS (Netherlands)

    Wal, G. van der; Otten, B.J.; Brunner, H.G.; Burgt, C.J.A.M. van der

    2001-01-01

    3-M syndrome combines pre- and postnatal growth retardation and dysmorphic facial features with autosomal recessive inheritance. Six new patients with 3-M syndrome are described and compared with 28 cases from the literature. Our six patients have a growth pattern, which parallels that of

  15. 17q21.31 microdeletion syndrome: Description of a case further contributing to the delineation of Koolen-de Vries syndrome.

    Science.gov (United States)

    Bernardo, Pia; Madia, Francesca; Santulli, Lia; Del Gaudio, Luigi; Caccavale, Carmela; Zara, Federico; Traverso, Monica; Cirillo, Mario; Striano, Salvatore; Coppola, Antonietta

    2016-08-01

    The widespread use of Array Comparative Genomic Hybridization (aCGH) technology has enabled the identification of several syndromes associated with copy number variants (CNVs) including the 17q21.31 microdeletion. The 17q21.31 microdeletion syndrome, also known as Koolen-de Vries syndrome, was first described in 2006 in individuals with intellectual disabilities and organ abnormalities. We report the clinical, instrumental, cytogenetic and molecular investigations of a boy admitted for epilepsy and intellectual disabilities. We carried out detailed analysis of the clinical phenotype of this patient and investigated the genetic basis by using aCGH. We identified a de novo microdeletion on chromosome 17q21.31, compatible with Koolen-de Vries syndrome. Our case shares some of the typical characteristics of the syndrome already described by other authors: delayed psychomotor development, primarily affecting the expressive language, dysmorphic facial features, and epilepsy. However the clinical outcome was not severe as the intellectual disabilities were moderate with good adaptive and functional behaviour. Epilepsy was easily controlled by a single drug, and he never needed surgery for organ abnormalities. Copyright © 2016 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

  16. The search for pain relief in people with chronic fatigue syndrome: a descriptive study.

    Science.gov (United States)

    Marshall, Rebecca; Paul, Lorna; Wood, Les

    2011-07-01

    The purpose of this study was to investigate the use and perceived benefit of complimentary and alternative medicine (CAM) and physiotherapy treatments tried by people with chronic fatigue syndrome (CFS) to ease painful symptoms. This study used a descriptive, cross-sectional design. People with CFS who experienced pain were recruited to this study. Participants were asked during a semistructured interview about the treatments they had tried to relieve their pain. Each interview was conducted in the home of the participant. Fifty participants were recruited, of which, 10 participants were severely disabled by CFS. Eighteen participants were trying different forms of CAM treatment for pain relief at the time of assessment. Three participants were currently receiving physiotherapy. Throughout the duration of their illness 45 participants reported trying 19 different CAM treatments in the search for pain relief. Acupuncture was reported to provide the most pain relief (n=16). Twenty-seven participants reported a total of 16 different interventions prescribed by their physiotherapist. The results of this study suggest some physiotherapy and CAM treatments may help people manage painful CFS symptoms. Future research should be directed to evaluating the effectiveness of interventions such as acupuncture or gentle soft tissue therapies to reduce pain in people with CFS.

  17. Presenting Symptoms in Pediatric Restless Legs Syndrome Patients

    NARCIS (Netherlands)

    de Weerd, Al; Arico, Irene; Silvestri, Rosalia

    2013-01-01

    Objective: The diagnosis restless legs syndrome (RLS) in children depends on the history told by the child and his parents. The description of symptoms given by the child him or herself is most important. Additional criteria are, among others, the results of polysomnography (PSG). Description of the

  18. Case series

    African Journals Online (AJOL)

    abp

    11 déc. 2015 ... du manuscrit. Figures. Figure 1: Obésité et vergetures abdominales chez une jeune adolescente avec maladie de cushing. Figure 2: Retard staturo-pondéral et obésité chez une patiente avec maladie de Cushing. Figure 3: Signes cliniques retrouvés chez les adolescents avec un syndrome de Cushing.

  19. African Journal of Neurological Sciences - 2009 Vol. 28 No 1

    African Journals Online (AJOL)

    RESUME. Le kyste arachnoïdien extra-dural spinal est une affection rare. Sa pathogénie reste méconnue. Nous rapportons le cas d'une jeune fille de 12 ans, sans antécédents pathologiques, admise au service de neurochirurgie, hôpital militaire Avicenne, Marrakech, pour un syndrome de compression médullaire à.

  20. Burnout syndrome prevalence in physiotherapists.

    Science.gov (United States)

    González-Sánchez, Blanca; López-Arza, María Victoria González; Montanero-Fernández, Jesús; Varela-Donoso, Enrique; Rodríguez-Mansilla, Juan; Mingote-Adán, José Carlos

    2017-04-01

    To evaluate burnout syndrome in its three aspects, jointly as well as independently, in physiotherapists from the Extremadura region (Spain). Analytic descriptive epidemiological transversal trial in primary care and institutional practice, with physiotherapists practicing in Extremadura who met the inclusion criteria, after having signed an informed consent form. Emotional exhaustion, depersonalization and low professional accomplishment were the outcomes measured. Physiotherapists from Extremadura show a 65.23 point level of burnout syndrome, according to the Maslach Burnout Inventory questionnaire. Therefore, they are positioned in the middle of the rating scale for the syndrome, and very near to the high level at starting score of 66 points. Physiotherapists in Extremadura present moderate scores for the three dimensions of burnout syndrome, namely, emotional exhaustion, depersonalization and low professional accomplishment. For this reason, they are in the moderate level of the syndrome and very near to the high level, which starts at a score of 66 points. No relation between burnout syndrome and age has been found in our study.

  1. Metabolic syndrome in patients with ischemic heart disease

    International Nuclear Information System (INIS)

    Yasmin, S.; Naveed, T.; Shakoor, T.

    2008-01-01

    To determine the frequency of metabolic syndrome in patients with Ischemic Heart Disease (IHD). Cross-sectional, descriptive study. A total of 100 subjects with ischemic heart disease, fulfilling the inclusion criteria, were enrolled in the study. Demographic data (age and gender) and the 5 component conditions of the metabolic syndrome were noted. Subjects were physically assessed for the abdominal obesity, based on waist circumference. Fasting blood samples for glucose and lipid profile in first 24 hours after acute coronary insult were drawn and tested in central laboratory. Variables were processed for descriptive statistics. In this study population, 68% were male and 32% were female with mean age of 52 +-13.6 years in men and 56 +- 12.5 years in women. Frequency of metabolic syndrome was 32% in men and 28% in women. It increased with age. The highest rate of metabolic syndrome was in men diagnosed as STEMI (odds ratio: 3.39, 95% CI=1.36-8.41). Frequency of metabolic syndrome was high among the patients with IHD. It supports the potential for preventive efforts in persons with high-risk of IHD. (author)

  2. Les tumeurs neuro ectodermiques périphériques primitives de localisation thoracique (tumeur d'Askin) chez l'adulte jeune : à propos de deux observations, revue de la littérature

    OpenAIRE

    Brugger , Catherine

    2003-01-01

    Non disponible / Not available; La tumeur d'Askin appartient à la famille des tumeurs neuro ectodermiques périphériques primitives. De localisation thoracique, elle est décrite initialement chez l'enfant, sa survenue chez l'adulte jeune demeure exceptionnelle. Elle est définie comme une tumeur maligne à petites cellules rondes exprimant le gène MIC2 et présentant une translocation chromosomique t(11,22) spécifique. Ses aspects cliniques et radiologiques ne sont pas spécifiques. L'évolution à ...

  3. Genetics Home Reference: Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant

    Science.gov (United States)

    ... SBBYS variant Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant Printable PDF Open All Close All Enable ... collapse boxes. Description The Say-Barber-Biesecker-Young-Simpson (SBBYS) variant of Ohdo syndrome is a rare ...

  4. Pathogenesis and symptomatics of the acute radiation syndrome

    International Nuclear Information System (INIS)

    Fliedner, T.M.; Haen, M.; Carbonell, F.

    1980-01-01

    The pathogenesis and symptomatics of the acute radiation syndrome are discussed. Diagnosis and therapy would be impossible without detailed knowledge in these fields. The concept of acute radiation syndrome is explained, and a pathophysiological analysis of the various forms of radiation syndrome - haematological, intestinal and affecting the central nervous system is attempted. The developments in the diagnosis and therapy of acute radiation syndrome since its first description - 35 years ago - are reviewed. Today, whole-body doses of 100 rd and more can be treated by radiotherapy. (orig./MG) [de

  5. Acute compartment syndrome after muscle rupture in a non-athlete.

    OpenAIRE

    Thennavan, A S; Funk, L; Volans, A P

    1999-01-01

    Acute compartment syndrome after muscle rupture, although rare, is a limb threatening condition, which warrants emergency treatment. The case of acute compartment syndrome secondary to a gastrocnemius muscle tear of the right lower leg, in a non-athlete is reported. To our knowledge, this is the only description of acute compartment syndrome due to muscle rupture in a non-athlete.

  6. Exercise beliefs and behaviours of individuals with Joint Hypermobility syndrome/Ehlers-Danlos syndrome - hypermobility type.

    Science.gov (United States)

    Simmonds, Jane V; Herbland, Anthony; Hakim, Alan; Ninis, Nelly; Lever, William; Aziz, Qasim; Cairns, Mindy

    2017-11-10

    To explore exercise beliefs and behaviours of individuals with Joint Hypermobility syndrome/Ehlers-Danlos syndrome - hypermobility type and to explore patient experiences of physiotherapy. A cross sectional questionnaire survey design was used to collect quantitative and qualitative data from adult members of the Hypermobility Syndromes Association and Ehlers-Danlos Syndrome Support UK. Descriptive and inferential statistics were used to analyse the data. Qualitative data was analysed thematically. 946 questionnaires were returned and analysed. Participants who received exercise advice from a physiotherapist were 1.75 more likely to report high volumes of weekly exercise (odds ratio [OR] = 1.75, 95% confidence interval [CI] = 1.30-2.36, p Ehlers-Danlos syndrome - hypermobility type in this survey. Implications for rehabilitation Exercise is a cornerstone of treatment for Ehlers-Danlos syndrome/Ehlers-Danlos syndrome - hypermobility type. Pain, fatigue and fear of injury are frequently reported barriers to exercise. Advice from physiotherapists may significantly influence exercise behaviour. Physiotherapists with condition specific knowledge and good verbal and non-verbal communication facilitate a positive therapeutic experience.

  7. [Correlation of metabolic syndrome components in older Mexican women].

    Science.gov (United States)

    Ramírez-Arriola, Maria Cleofas; Mendoza-Romo, Margarita Paz; González-Rubio, Marco Vinicio; López-Esqueda, Francisco Javier; Mendoza-Romo, Miguel Angel; Velasco-Chávez, José Fernando

    2011-01-01

    In woman aged over 60 years, body changes occur and might cause insulin resistance and metabolic syndrome. To determine the relationship between the components of metabolic syndrome, insulin resistance and body mass index in women over 60 years, attended at the Geriatric Services in the Dr. Ignacio Morones Prieto Hospital in San Luis Potosi, Mexico. We performed an observational, descriptive and transversal study with non-probability sampling, selecting 61 women aged 60 years attended from 2006 to 2008, who have measured the body mass index (BMI), insulin resistance and homeostasis model (HOMA2), and identifying the components of metabolic syndrome according to the criteria of the World Health Organization. We used descriptive and inferential statistics with r Pearson and Chi Square. The mean age was 68 years. The average HOMA2 were 1.4 and 75 percentile 1.9. The prevalence of metabolic syndrome was present in 23%. The association test with a p metabolic syndrome dysglucemia and obesity, but not for other components of metabolic syndrome. The triglycerides level correlated with insulin resistance (r = 0.325, p = 0.011), insulin resistance with glucose (r = 0.535, p = 0.000) and insulin resistance with BMI (r = 0.282, p = 0.28). It is important to properly define the components for the presence of metabolic syndrome in older women due to not all who qualify as obese have metabolic syndrome, and neither all the metabolic syndrome are associated with insulin resistance. The single alteration of one of the components of metabolic syndrome is not sufficient to cause insulin resistance.

  8. Radiologic features of preteus syndrome: A case report

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Ok Hwa [Dept. of Radiology, Haeundae Paik Hospital, Inje University College of Medicine, Busan (Korea, Republic of)

    2014-04-15

    Proteus syndrome is a rare congenital hamartomatous condition that is characterized by a wide range of malformations with overgrowth of various tissues. The author reports the case of a Proteus syndrome in a 14-year-old girl who had the unique features of this syndrome including megaspondylodysplasia with resultant scoliosis, leg discrepancy, macrodactyly, clinodactyly, hyperostosis in external auditory meatus, asymmetric megalencephaly, splenomegaly, cystic lung changes, asymmetric soft tissue fat infiltrations and a long, asymmetric face, with descriptions of the radiological features.

  9. Le néo-corporatisme réinterpellé : analyse comparée de deux politiques d'accès à l'emploi, l'apprentissage industriel en Belgique et le contrat de qualification "jeunes" en France

    OpenAIRE

    Levêque, Audrey

    2006-01-01

    The comparative study of the "apprentissage industriel" in French speaking Belgium and of the "contrat de qualification jeunes" in France shows the maintenance of the neo corporatist model of social State. The analysis of the emergence and of the implementation of these two employment public policies for low qualified young permit to understand how they are appropriated on the ground, especially in the metallurgy sector. If these policies are intended for those low qualified young, the implem...

  10. Comment faire place à une multiplicité de petits récits dans la recherche sur les jeunes en situation de vulnérabilité?

    DEFF Research Database (Denmark)

    Lavaud, Manon Alice

    2017-01-01

    Comment enquêter sur les enfants et les adolescents en situation de vulnérabilité de manière à esquiver les représentations stéréotypées pour s'intéresser à la pluralité des cas individuels ? Le présent article tente de répondre à cette question en introduisant le concept de petits récits et la t...... une présentation du concept de petits récits et de la théorie du positionnement, et aux fins d'illustrer et de démontrer la pertinence et l'utilité de ces notions, un exemple d’analyse est proposé à partir du cas de « Lisa », une jeune adolescente placée en famille d’accueil....

  11. Invasive fungal infections in endogenous Cushing's syndrome

    Science.gov (United States)

    Scheffel, Rafael Selbach; Dora, José Miguel; Weinert, Letícia Schwerz; Aquino, Valério; Maia, Ana Luiza; Canani, Luis Henrique; Goldani, Luciano Z.

    2010-01-01

    Cushing's syndrome is a condition characterized by elevated cortisol levels that can result from either augmented endogenous production or exogenous administration of corticosteroids. The predisposition to fungal infections among patients with hypercortisolemia has been noted since Cushing's original description of the disease. We describe here a patient with endogenous Cushing's syndrome secondary to an adrenocortical carcinoma, who developed concomitant disseminated cryptococcosis and candidiasis in the course of his disease. PMID:24470886

  12. [The syndrome of Cotard: an overview].

    Science.gov (United States)

    Van den Eynde, F; Debruyne, H; Portzky, M; De Saedeleer, S; Audenaert, K

    2008-01-01

    There is increasing controversy about whether psychiatric illnesses should be divided into categories. One of the reasons is that such a categorial system, by its very nature, cannot provide a detailed description of specific psychopathological symptoms. A patient with Cotard's syndrome, for instance, is characterised by a nihilistic delusion relating to his own body and the syndrome does not fit into any one category. We report on a case of Cotard's syndrome encountered at our clinic. To provide an overview of the characteristics of Cotard's syndrome, including its history, phenomenology, pathogenesis and treatment. A Medline search was conducted for the period 1980-2006 using the search term 'Cotard$'. This resulted in 68 publications, of which 18 were not used. Cross-references were used as well. Cotard's syndrome cannot be fitted unambiguously into any one category of the current classification system. Current evidence regarding Cotard's syndrome is based mainly on case studies and therefore no clarity can be obtained about the various aspects of the syndrome, such as prevalence, pathogenesis, treatment.

  13. Stuttering Treatment for a School-Age Child with Down Syndrome: A Descriptive Case Report

    Science.gov (United States)

    Harasym, Jessica; Langevin, Marilyn

    2012-01-01

    Background: Little is known about optimal treatment approaches and stuttering treatment outcomes for children with Down syndrome. Aims and method: The purpose of this study was to investigate outcomes for a child with Down syndrome who received a combination of fluency shaping therapy and parent delivered contingencies for normally fluent speech,…

  14. [Constitutional mismatch repair deficiency syndrome

    NARCIS (Netherlands)

    Jongmans, M.C.J.; Gidding, C.E.M.; Loeffen, J.; Wesseling, P.; Mensenkamp, A.; Hoogerbrugge, N.

    2015-01-01

    BACKGROUND: Constitutional mismatch repair deficiency (CMMR-D) syndrome is characterised by a significantly increased risk for developing cancer in childhood. It arises when both parents have a mutation in the same mismatch repair gene and pass it on to their child. CASE DESCRIPTION: An 8-year-old

  15. [Evaluation of the primary caregiver syndrome when caring for elderly adults with immobility syndrome].

    Science.gov (United States)

    Morales-Cariño, Elizabeth María; Jiménez-Herrera, Blanca L; Serrano-Miranda, Tirzo A

    2012-01-01

    Caregiver syndrome may develop in caregivers of elderly adults. To evaluate the repercussions of the immobility syndrome present in elderly adults on their primary caregivers as well as to determine the clinical and socio-demographic characteristics of the elderly adult and caregiver. The study population included patients over 65 recruited in the Geriatric Rehabilitation Department, with the diagnosis of immobility syndrome and that required a primary caregiver. A questionnaire including socio-demographic variables was applied to all patients and caregivers, and the Zarit scale was also applied to caregivers in order to determine the presence of caregiver syndrome. Analysis was performed with descriptive statistical methods; Student's t test and Fisher's test were used for comparisons between strata. 75 patients and their caregivers were evaluated; patient average age was 75.9 years and 85.3% were female. 50.7% (38 cases) had mild immobility. The average caregiver's age was 50.6%, 70.7% were female and 57.3% were the patient's daughter. Caregiver syndrome was detected in 60% of them: 57.7% had mild symptoms and in 42.2%, symptoms were moderate to severe. No statistically significant association was established between the development of caregiver syndrome and the degree of patient immobility. Caregivers of patients with immobility syndrome are at high risk of developing caregiver syndrome, thus underscoring the need to include primary caregiver support programs.

  16. Etiology of the anterior ankle impingement syndrome: A descriptive anatomical study

    NARCIS (Netherlands)

    Tol, Johannes L.; van Dijk, C. Niek

    2004-01-01

    Background: In the anterior ankle impingement syndrome, recurrent traction to the anterior joint capsule is stated to be the cause of formation of talotibial osteophytes. This hypothesis involves the assumption that the osteophytes originate at the site where a capsular attachment is located. A soft

  17. Dysphagia in Rett Syndrome: A Descriptive Study.

    Science.gov (United States)

    Mezzedimi, Chiara; Livi, Walter; De Felice, Claudio; Cocca, Serena

    2017-09-01

    Rett syndrome (RS) is a neurodevelopmental disorder and the second major cause of mental retardation in females. The aim of this study was to evaluate swallowing problems of RS patients by endoscopic assessment and compile a list of suggestions for managing feeding and preventing complications. The sample consisted of 61 female patients (mean age = 13.6 years, range, 2-33 years) admitted to the Department of Neuropsychiatry, where they had previously been diagnosed with RS. Speech evaluation associated with observation during mealtimes was useful to formulate suggestions for caregivers. Progressive deterioration of feeding was commonly noted by caregivers. Fifty-four patients had a history of recurrent episodes of bronchitis. Oral apraxia, dyskinetic tongue movements, prolonged oral stage, and poor bolus formation were the most common findings in all patients. Dysphagia was primarily limited to oral preparatory phases, while the pharyngeal phase was normal in most patients. The high percentage of dysphagia suggests the need to accurately monitor the feeding capability of RS children. It is critical to correctly inform caregivers about safe swallowing procedures to reduce the incidence of fatal complications.

  18. Congenital malformations of hands and feet in Smith-Lemli-Opitz syndrome

    Directory of Open Access Journals (Sweden)

    N. A. Kovalenko-Klychkova

    2013-01-01

    Full Text Available Smith-Lemli-Opitz syndrome is rare genetic disorder with multiple limb malformations and neurological manifestation, caused by inborn defect of cholesterol metabolism. Congenital deformities of feet and hands are most common orthopedic symptoms in this syndrome. Description of a girl with Smith-Lemli-Opitz syndrome demonstrates specific features of this disorder and emphasize the importance of proper interpretation of orthopedic malformations for early diagnosis of genetic conditions.

  19. Marquage magnétique interne : essais de tolérance par de jeunes saumons atlantiques (Salmo salar L.

    Directory of Open Access Journals (Sweden)

    DUMAS J.

    1982-10-01

    Full Text Available Les effets de l'implantation d'une marque magnétique "Metalimphy" * de 20 x 1,5 mm dans la cavité abdominale de jeunes saumons d'élevage sont comparés à ceux d'un marquage classique par ablation de la nageoire adipeuse. Les essais sont effectués sur des tacons de deuxième été et des pré-saumoneaux d'un an dans deux piscicultures de Bretagne et des Pyrénées-Atlantiques. Quel que soit le mode d'insertion pratiqué (ventral ou latéral cette technique n'a aucun effet significatif sur la survie et la croissance des poissons, qu'ils soient tacons (observés sur 194 jours ou pré-saumoneaux (observés sur 56 jours. La cicatrisation est rapide et ce marquage n'entrave pas la smoltification. L'emploi d'une poudre antibiotique cicatrisante ne semble pas nécessaire en conditions normales de pisciculture. L'insertion par voie ventrale s'avère préférable à l'insertion latérale ; elle n'entraîne pas de pertes de marques et se révèle plus facile à pratiquer.

  20. Genes and Syndromic Hearing Loss.

    Science.gov (United States)

    Keats, Bronya J. B.

    2002-01-01

    This article provides a description of the human genome and patterns of inheritance and discusses genes that are associated with some of the syndromes for which hearing loss is a common finding, including: Waardenburg, Stickler, Jervell and Lange-Neilsen, Usher, Alport, mitochondrial encephalomyopathy, and sensorineural hearing loss. (Contains…

  1. Gorlin-Goltz Syndrome: case report and review of literature

    Directory of Open Access Journals (Sweden)

    Adrianne Rahde Bischoff

    2014-10-01

    Full Text Available Description of a case report of Gorlin-Goltz Syndrome diagnosed in a male newborn who presented increased head circumference and bifid ribs. Mother and grandmother presented typical physical findings of the syndrome, including palmar pits, odontogenic cysts, and history of multiple skin cancer resections. The diagnosis was based on clinical findings of three relatives. A literature review is also presented.

  2. Une approche générationnelle des jeunes militants frontistes Young activists in the French National Front : a generational approach

    Directory of Open Access Journals (Sweden)

    Magali Bouzama

    2009-06-01

    Full Text Available Cet article vise à saisir l’évolution des jeunes au Front national (FN à différentes périodes de l'histoire du parti et à éclairer ces engagements juvéniles en repérant des moments clés constitutif de générations précises de militants, qui présentent des propriétés sociales différentes selon le contexte social. On se propose de caractériser les trois grandes vagues d'adhésion repérées, à partir de l'évolution partisane du FN mais également au regard des événements sociaux plus larges. De ce travail on retient notamment une clé de compréhension de la scission et de la façon dont les jeunes se sont positionnés en faveur de l'un ou l'autre leader. Finalement, l'approche générationnelle ne peut être efficiente que si on lui adjoint une étude sur les trajectoires des individus et donc une lecture en termes de socialisation.This article applies a generational approach to study young people entering politics. It allows us to diffirentiate between the situation in the 19705 and today. During the 1970s, the young members of the FNJ (the French National Front Youth Section mainly came from the declining middle class (their sociological profile was that of a shop employee’s son. They belonged to the post-Mai 1968 generation and were influenced by anticommunism, very strong at that time. From the point of view of the parry, they were the first generation of a very small group of extreme-right wingers in France. Their work as militants was to establish the party. Most of the young people entering the FNJ in the 1980s aimed to combat the movement led by « SOS Racisme ». Skinheads and hooligans reappeared on the scene. The French National Front was represented in Parliament in 1986 and in the 1990s, its influence grew, its members belonged to the working classes but the chief was part of the upper class. By examining a few examples of family socialization, we try to understand how the identity of NF youth was built and

  3. The nasogastric tube syndrome in infants.

    Science.gov (United States)

    Harmon, Jeffrey; Balakrishnan, Karthik; de Alarcon, Alessandro; Hart, Catherine K

    2014-05-01

    This series of three patients is the first description of the presentation, clinical course, and endoscopic findings of nasogastric tube-related airway distress, or nasogastric tube syndrome, in infants. We identify key differences in disease features from those described in adults, based on our literature review. Specifically, infant nasogastric tube syndrome presented as significant respiratory distress and postcricoid inflammation without vocal fold immobility. Symptoms resolved more quickly (mean±SD, 2±1 days) than reported in adults. We suggest that nasogastric tube syndrome should be considered in infants with otherwise unexplained respiratory distress, even in the absence of impaired vocal fold mobility. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

  4. Cotard Syndrome without Depressive Symptoms in a Schizophrenic Patient.

    Science.gov (United States)

    Morgado, Pedro; Ribeiro, Ricardo; Cerqueira, João J

    2015-01-01

    Introduction. Cotard syndrome is a rare condition characterized by nihilistic delusions concerning body or life that can be found in several neuropsychiatry conditions. It is typically associated with depressive symptoms. Method. We present a case of Cotard syndrome without depressive symptoms in the context of known paranoid schizophrenia. A literature review of Cotard syndrome in schizophrenia was performed. Results. Although there are few descriptions of this syndrome in schizophrenia, patients usually present depressive mood and psychomotor retardation, features not seen in our patient. Loss of the sense of the inner self, present in schizophrenia, could explain patient's symptomatology but neurobiological bases of this syndrome remain unclear. Conclusion. Despite not being considered in actual classifications, Cotard syndrome is still relevant and psychiatric evaluation is critical to diagnosing and treating this condition in psychiatric patients.

  5. [The Coffin-Siris syndrome. Description of 4 patients and a literature review].

    Science.gov (United States)

    van Heyst, A F; Kollée, L A; Brunner, H G

    1993-02-01

    Four patients with Coffin-Siris syndrome are described. In addition a 30 cases are reviewed. The most frequent symptoms are dysmorphic features of the facies with sparse scalp hair, nail hypoplasia and mental retardation.

  6. Asherman syndrome in a Danish population

    DEFF Research Database (Denmark)

    Kjer, Jens J

    2014-01-01

    Intrauterine adhesions (Asherman syndrome) are rare and mainly seen after delivery or abortion in the presence of retained placental tissue. This descriptive study aimed to identify common risk factors for intrauterine adhesions. In a 10-year period 61 women were identified with intrauterine adhe...

  7. Cotard Syndrome without Depressive Symptoms in a Schizophrenic Patient

    Directory of Open Access Journals (Sweden)

    Pedro Morgado

    2015-01-01

    Full Text Available Introduction. Cotard syndrome is a rare condition characterized by nihilistic delusions concerning body or life that can be found in several neuropsychiatry conditions. It is typically associated with depressive symptoms. Method. We present a case of Cotard syndrome without depressive symptoms in the context of known paranoid schizophrenia. A literature review of Cotard syndrome in schizophrenia was performed. Results. Although there are few descriptions of this syndrome in schizophrenia, patients usually present depressive mood and psychomotor retardation, features not seen in our patient. Loss of the sense of the inner self, present in schizophrenia, could explain patient’s symptomatology but neurobiological bases of this syndrome remain unclear. Conclusion. Despite not being considered in actual classifications, Cotard syndrome is still relevant and psychiatric evaluation is critical to diagnosing and treating this condition in psychiatric patients.

  8. Prevalence of dry eye syndrome and Sjogren's syndrome in patients with rheumatoid arthritis.

    Science.gov (United States)

    Kosrirukvongs, Panida; Ngowyutagon, Panotsom; Pusuwan, Pawana; Koolvisoot, Ajchara; Nilganuwong, Surasak

    2012-04-01

    Rheumatoid arthritis has manifestations in various organs including ophthalmic involvement. The present study evaluates prevalence of dry eye and secondary Sjogren's syndrome using salivary scintigraphy which has not been used in previous reports. To evaluate the prevalence of secondary Sjogren's syndrome in patients with rheumatoid arthritis, including clinical characteristics and dry eye, compared with non-Sjogren's syndrome. Descriptive cross sectional study Sixty-one patients with rheumatoid arthritis were recruited at Siriraj Hospital during March 2009-September 2010 and filled in the questionnaires about dry eye for Ocular Surface Disease Index (OSDI) with a history taking of associated diseases, medications, duration of symptoms of dry eyes and dry mouth. The Schirmer I test without anesthesia, tear break-up time, rose bengal staining score, severity of keratitis and salivary scintigraphy were measured and analyzed. Prevalence of secondary Sjogren's syndrome and dry eye were 22.2% (95% CI 15.4 to 30.9) and 46.7% (95% CI 38.0 to 55.6), respectively. Dry eye interpreted from OSDI, Schirmer 1 test, tear break-up time and rose bengal staining was 16.4%, 46.7%, 82% and 3.3% respectively. Fifty-two percent of patients had a history of dry eye and dry mouth with mean duration 27.4 and 29.8 months, respectively. Superficial punctate keratitis and abnormal salivary scintigraphy were found in 58.2% and 77.8%. Duration of rheumatoid arthritis, erythrocyte sedimentation rate were not correlated with secondary Sjogren's syndrome. Dry eye from OSDI with secondary Sjogren's syndrome (33.3%) compared with non-Sjogren's syndrome (9.5%) was significant difference (p = 0.008). Adjusted odds ratio for secondary Sjogren's syndrome in OSDIL score > 25 was 13.8 (95% CI 2.6 to 73.8, p = 0.002) compared to OSDI score dry eye syndrome and secondary Sjogren's syndrome in rheumatoid arthritis was crucial for evaluation of their severity and proper management.

  9. Intraoperative navigation-guided resection of anomalous transverse processes in patients with Bertolotti's syndrome

    OpenAIRE

    Babu, Harish; Lagman, Carlito; Kim, Terrence T.; Grode, Marshall; Johnson, J. Patrick; Drazin, Doniel

    2017-01-01

    Background: Bertolotti's syndrome is characterized by enlargement of the transverse process at the most caudal lumbar vertebra with a pseudoarticulation between the transverse process and sacral ala. Here, we describe the use of intraoperative three-dimensional image-guided navigation in the resection of anomalous transverse processes in two patients with Bertolotti's syndrome. Case Descriptions: Two patients diagnosed with Bertolotti's syndrome who had undergone the above-mentioned procedure...

  10. Adult Reye-like syndrome associated with serologic evidence of acute parvovirus B19 infection

    Directory of Open Access Journals (Sweden)

    Paulo Sérgio Gonçalves da Costa

    Full Text Available Reye's syndrome is an infrequently diagnosed medical condition affecting mainly children. The etiology, epidemiology and natural history of Reye's syndrome have been cloudily written in footnotes of medical books and exotic papers since the initial description in early 1950s. We report here a case of adult Reye's syndrome associated with serologic evidence of parvovirus B19 infection.

  11. Molecular subtype classification of urothelial carcinoma in Lynch syndrome

    DEFF Research Database (Denmark)

    Therkildsen, Christina; Eriksson, Pontus; Höglund, Mattias

    2018-01-01

    Lynch syndrome confers an increased risk for urothelial carcinoma (UC). Molecular subtypes may be relevant to prognosis and therapeutic possibilities, but have to date not been defined in Lynch syndrome-associated urothelial cancer. We aimed to provide a molecular description of Lynch syndrome......-associated UC. Thus, Lynch syndrome-associated UC of the upper urinary tract and the urinary bladder were identified in the Danish hereditary non-polyposis colorectal cancer (HNPCC) register and were transcriptionally and immunohistochemically profiled and further related to data from 307 sporadic urothelial...... carcinomas. Whole genome mRNA expression profiles of 41 tumors and immunohistochemical stainings against FGFR3, KRT5, CCNB1, RB1, and CDKN2A (p16) of 37 tumors from Lynch syndrome patients were generated. Pathological data, microsatellite instability, anatomic location, and overall survival data was analyzed...

  12. Invasive fungal infections in endogenous Cushing’s syndrome

    Directory of Open Access Journals (Sweden)

    Rafael Selbach Scheffel

    2010-06-01

    Full Text Available Cushing’s syndrome is a condition characterized by elevated cortisol levels that can result from either augmented endogenous production or exogenous administration of corticosteroids. The predisposition to fungal infections among patients with hypercortisolemia has been noted since Cushing’s original description of the disease. We describe here a patient with endo-genous Cushing’s syndrome secondary to an adrenocortical carcinoma, who developed concomitant disseminated cryptococcosis and candidiasis in the course of his disease.

  13. Giant canine with dentine anomalies in oculo-facio-cardio-dental syndrome.

    Science.gov (United States)

    Larhant, Matthieu; Sourice, Sophie; Grimaud, Fanny; Cordoba, Luis; Leveau, Sophie; Huet, Pascal; Corre, Pierre; Khonsari, Roman Hossein

    2014-06-01

    Radiculomegaly affecting incisors, canines or premolars is a rare radiological finding (Maden et al., 2010) but is pathognomomic of a rare x-linked dominant syndrome called oculo-facio-cardio-dental syndrome (OFCDS). As this syndrome includes cardiac malformations and can lead to blindness due to congenital glaucoma, oral and maxillofacial surgeons should be aware of the somatic anomalies potentially associated with radiculomegaly. We report a typical case of OFCDS and provide the first description of the microscopic dental anomalies associated with this syndrome. Copyright © 2013 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

  14. Description of common musculoskeletal findings in Williams Syndrome and implications for therapies.

    Science.gov (United States)

    Copes, L E; Pober, B R; Terilli, C A

    2016-07-01

    Williams syndrome (WS), also referred to as Williams-Beuren syndrome (WBS), is a relatively rare genetic disorder affecting ∼1/10,000 persons. Since the disorder is caused by a micro-deletion of ∼1.5 Mb, it is not surprising that the manifestations of WS are extremely broad, involving most body systems. In this paper, we primarily focus on the musculoskeletal aspects of WS as these findings have not been the subject of a comprehensive review. We review the MSK features commonly seen in individuals with WS, along with related sensory and neurological issues interacting with and compounding underlying MSK abnormalities. We end by providing perspective, particularly from the vantage point of a physical therapist, on therapeutic interventions to address the most common MSK and related features seen in WS. Clin. Anat. 29:578-589, 2016. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  15. Syndrome of Churg Strauss

    International Nuclear Information System (INIS)

    Sanchez Morales, Edgar Alberto; Saavedra Rodriguez, Alfredo; Henao Riveros, Sandra

    2002-01-01

    The Churg-Strauss syndrome denominated allergic granulomatosis and angeitis is characterized by a systemic vasculitis of small glasses, extravascular granulomas and hypereosinophilia. Initially described by Jacob Churg and Lotte Strauss, two pathologists who in 1951 they published the description of 13 patient postmortem with tisular infiltration for eosinophils, necrotizant vasculitis and extravascular granulomas. The paper includes nomenclature, classification approaches, pathogenesis, pathology, and clinical aspects and diagnostic

  16. 22q11.2 deletion syndrome

    Science.gov (United States)

    McDonald-McGinn, Donna M.; Sullivan, Kathleen E.; Marino, Bruno; Philip, Nicole; Swillen, Ann; Vorstman, Jacob A. S.; Zackai, Elaine H.; Emanuel, Beverly S.; Vermeesch, Joris R.; Morrow, Bernice E.; Scambler, Peter J.; Bassett, Anne S.

    2016-01-01

    22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal microdeletion disorder, estimated to result mainly from de novo non-homologous meiotic recombination events occurring in approximately 1 in every 1,000 fetuses. The first description in the English language of the constellation of findings now known to be due to this chromosomal difference was made in the 1960s in children with DiGeorge syndrome, who presented with the clinical triad of immunodeficiency, hypoparathyroidism and congenital heart disease. The syndrome is now known to have a heterogeneous presentation that includes multiple additional congenital anomalies and later-onset conditions, such as palatal, gastrointestinal and renal abnormalities, autoimmune disease, variable cognitive delays, behavioural phenotypes and psychiatric illness — all far extending the original description of DiGeorge syndrome. Management requires a multidisciplinary approach involving paediatrics, general medicine, surgery, psychiatry, psychology, interventional therapies (physical, occupational, speech, language and behavioural) and genetic counselling. Although common, lack of recognition of the condition and/or lack of familiarity with genetic testing methods, together with the wide variability of clinical presentation, delays diagnosis. Early diagnosis, preferably prenatally or neonatally, could improve outcomes, thus stressing the importance of universal screening. Equally important, 22q11.2DS has become a model for understanding rare and frequent congenital anomalies, medical conditions, psychiatric and developmental disorders, and may provide a platform to better understand these disorders while affording opportunities for translational strategies across the lifespan for both patients with 22q11.2DS and those with these associated features in the general population. PMID:27189754

  17. Olfactory reference syndrome: issues for DSM-V.

    Science.gov (United States)

    Feusner, Jamie D; Phillips, Katharine A; Stein, Dan J

    2010-06-01

    The published literature on olfactory reference syndrome (ORS) spans more than a century and provides consistent descriptions of its clinical features. The core symptom is preoccupation with the belief that one emits a foul or offensive body odor, which is not perceived by others. This syndrome is associated with substantial distress and disability. DSM-IV and ICD-10 do not explicitly mention ORS, but note convictions about emitting a foul body odor in their description of delusional disorder, somatic type. However, the fact that such symptoms can be nondelusional poses a diagnostic conundrum. Indeed, DSM-IV also mentions fears about the offensiveness of one's body odor in the social phobia text (as a symptom of taijin kyofusho). There also seems to be phenomenological overlap with body dysmorphic disorder, obsessive-compulsive disorder, and hypochondriasis. This article provides a focused review of the literature to address issues for DSM-V, including whether ORS should continue to be mentioned as an example of another disorder or should be included as a separate diagnosis. We present a number of options and preliminary recommendations for consideration for DSM-V. Because research is still very limited, it is unclear how ORS should best be classified. Nonetheless, classifying ORS as a type of delusional disorder seems problematic. Given this syndrome's consistent clinical description across cultures for more than a century, substantial morbidity and a small but growing research literature, we make the preliminary recommendation that ORS be included in DSM-Vs Appendix of Criteria Sets Provided for Further Study, and we suggest diagnostic criteria. (c) 2010 Wiley-Liss, Inc.

  18. SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases.

    Science.gov (United States)

    Zarate, Yuri A; Bhoj, Elizabeth; Kaylor, Julie; Li, Dong; Tsurusaki, Yoshinori; Miyake, Noriko; Matsumoto, Naomichi; Phadke, Shubha; Escobar, Luis; Irani, Afifa; Hakonarson, Hakon; Schrier Vergano, Samantha A

    2016-08-01

    Coffin-Siris syndrome (CSS, MIM 135900), is a well-described, multiple congenital anomaly syndrome characterized by coarse facial features, hypertrichosis, sparse scalp hair, and hypo/aplastic digital nails and phalanges, typically of the 5th digits. Mutations in the BAF (SWI/SNF)-complex subunits (SMARCA4, SMARCE1, SMARCB1, SMARCA2, ARID1B, and ARID1A) have been shown to cause not only CSS, but also related disorders including Nicolaides-Baraitser (MIM 601358) syndrome and ARID1B-intellectual disability syndrome (MIM 614562). At least 200 individuals with CSS have been found to have a mutation in the BAF pathway. However, to date, only three individuals with CSS have been reported to have pathogenic variants in SMARCE1. We report here three additional individuals with clinical features consistent with CSS and alterations in SMARCE1, one of which is novel. The probands all exhibited dysmorphic facial features, moderate developmental and cognitive delay, poor growth, and hypoplastic digital nails/phalanges, including digits not typically affected in the other genes associated with CSS. Two of the three probands had a variety of different organ system anomalies, including cardiac disease, genitourinary abnormalities, feeding difficulties, and vision abnormalities. The 3rd proband has not had further investigative studies. Although an increasing number of individuals are being diagnosed with disorders in the BAF pathway, SMARCE1 is the least common of these genes. This report doubles the number of probands with these mutations, and allows for better phenotypic information of this rare syndrome. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  19. SMARCE1, a Rare Cause of Coffin–Siris Syndrome: Clinical Description of Three Additional Cases

    Science.gov (United States)

    Zarate, Yuri A.; Bhoj, Elizabeth; Kaylor, Julie; Li, Dong; Tsurusaki, Yoshinori; Miyake, Noriko; Matsumoto, Naomichi; Phadke, Shubha; Escobar, Luis; Irani, Afifa; Hakonarson, Hakon; Schrier Vergano, Samantha A.

    2018-01-01

    Coffin–Siris syndrome (CSS, MIM 135900), is a well-described, multiple congenital anomaly syndrome characterized by coarse facial features, hypertrichosis, sparse scalp hair, and hypo/aplastic digital nails and phalanges, typically of the 5th digits. Mutations in the BAF (SWI/SNF)-complex subunits (SMARCA4, SMARCE1, SMARCB1, SMARCA2, ARID1B, and ARID1A) have been shown to cause not only CSS, but also related disorders including Nicolaides–Baraitser (MIM 601358) syndrome and ARID1B-intellectual disability syndrome (MIM 614562).At least 200 individuals with CSS have been found to have a mutation in the BAF pathway. However, to date, only three individuals with CSS have been reported to have pathogenic variants in SMARCE1. We report here three additional individuals with clinical features consistent with CSS and alterations in SMARCE1, one of which is novel. The probands all exhibited dysmorphic facial features, moderate developmental and cognitive delay, poor growth, and hypoplastic digital nails/phalanges, including digits not typically affected in the other genes associated with CSS. Two of the three probands had a variety of different organ system anomalies, including cardiac disease, genitourinary abnormalities, feeding difficulties, and vision abnormalities. The 3rd proband has not had further investigative studies. Although an increasing number of individuals are being diagnosed with disorders in the BAF pathway, SMARCE1 is the least common of these genes. This report doubles the number of probands with these mutations, and allows for better phenotypic information of this rare syndrome. PMID:27264197

  20. Soft-tissue mineralization in Werner syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Leone, Antonio; Costantini, Alessandro Maria; Brigida, Raffaela; Antoniol, Onorina Monica; Bonomo, Lorenzo [Universita Cattolica School of Medicine, Department of Radiology, Rome (Italy); Antonelli-Incalzi, Raffaele [Universita Cattolica School of Medicine, Department of Geriatrics, Rome (Italy)

    2005-01-01

    Werner syndrome is a rare autosomal recessive disorder characterized by clinical signs of premature aging, short stature, scleroderma-like skin changes, endocrine abnormalities, cataracts, and an increased incidence of malignancies. We report on a 48-year-old woman with Werner syndrome associated with intracranial meningiomas who had extensive musculoskeletal manifestations including osteoporosis of the extremities, extensive tendinopathy about the ankles, osteomyelitis of the phalanges of the first left toe, abundant soft-tissue calcification, and two dense ossified soft-tissue masses, with cortical bone and trabeculae arising from the posterosuperior aspect of the calcanei and extending into Kager fat pads. A review of previous descriptions of the radiological abnormalities of Werner syndrome indicates that the presence of soft-tissue calcifications has either not been noted or been mentioned only briefly. Moreover, there is no mention of bony masses associated with Werner syndrome in the world literature, and this would appear to be the first report of this kind. (orig.)

  1. Posterior urethral valves and Down syndrome

    African Journals Online (AJOL)

    J. Lazarus

    2015 Pan African Urological Surgeons' Association. Production and hosting by Elsevier B.V. All rights reserved. Introduction. The first description of Down syndrome (DS) was in 1866 by the. British physician Dr. John Langdon Down [1]. Despite this long his- tory, the association of DS with congenital anomalies of the kidney.

  2. Aggressive fibromatosis of the neck in a patient with Gardner's syndrome

    International Nuclear Information System (INIS)

    Rai, A.T.; Nguyen, T.P.; Hogg, J.P.; Gabriele, F.J.

    2001-01-01

    We report a patient with Gardner's syndrome who, in addition to a total colectomy, had multiple excisions of desmoid tumors in both thighs. He presented with left-sided neck swelling and pain. MRI was highly suggestive of desmoid tumors in multiple neck muscles. To our knowledge this is the first description of diffuse fibromatosis of the neck in association with Gardner's syndrome. (orig.)

  3. A study on phenomenology of Dhat syndrome in men in a general medical setting.

    Science.gov (United States)

    Prakash, Sathya; Sharan, Pratap; Sood, Mamta

    2016-01-01

    "Dhat syndrome" is believed to be a culture-bound syndrome of the Indian subcontinent. Although many studies have been performed, many have methodological limitations and there is a lack of agreement in many areas. The aim is to study the phenomenology of "Dhat syndrome" in men and to explore the possibility of subtypes within this entity. It is a cross-sectional descriptive study conducted at a sex and marriage counseling clinic of a tertiary care teaching hospital in Northern India. An operational definition and assessment instrument for "Dhat syndrome" was developed after taking all concerned stakeholders into account and review of literature. It was applied on 100 patients along with socio-demographic profile, Hamilton Depression Rating Scale, Hamilton Anxiety Rating Scale, Mini International Neuropsychiatric Interview, and Postgraduate Institute Neuroticism Scale. For statistical analysis, descriptive statistics, group comparisons, and Pearson's product moment correlations were carried out. Factor analysis and cluster analysis were done to determine the factor structure and subtypes of "Dhat syndrome." A diagnostic and assessment instrument for "Dhat syndrome" has been developed and the phenomenology in 100 patients has been described. Both the health beliefs scale and associated symptoms scale demonstrated a three-factor structure. The patients with "Dhat syndrome" could be categorized into three clusters based on severity. There appears to be a significant agreement among various stakeholders on the phenomenology of "Dhat syndrome" although some differences exist. "Dhat syndrome" could be subtyped into three clusters based on severity.

  4. Camus's L'étranger and the first description of a man with Asperger's Syndrome

    Directory of Open Access Journals (Sweden)

    Shuster S

    2018-04-01

    Full Text Available Sam Shuster Department of Dermatology, University of Newcastle, Newcastle upon Tyne, UKAbstract: The continued discussion about the meaning of Camus’s famous novel, L’étranger, provoked a re-reading, and this, in turn, led to its clinical analysis and further investigation. The book rests entirely on the thoughts, words and actions of its central character, Meursault, and these were found to show impairment of social relationships, communication and interaction, with other traits diagnostic of the Asperger’s subgroup of the autism spectrum disorder. It was then found that Camus had based Meursault on his close friend Galindo, and a search was therefore made for evidence of Galindo’s character; this revealed him to be an intelligent but odd person, who exhibited the characteristic impairment of social and personal behavior of Asperger’s syndrome. Thus, Camus had recognized and understood his friend’s strange behavior before Asperger’s syndrome had been defined; his use of it for the creation of Meursault is therefore the first published account of a man with this disorder. Many of the interpretations and ideas developed from Meursault’s words, thoughts and actions must now be reconsidered, as they are a misreading of the words and behavior of a man with Asperger’s syndrome. The outcome of this clinical examination of L’étranger is unique; it shows that a precise account of a person with a neurobehavioral disorder was made by a novelist before the disorder had been clinically defined.Keywords: Asperger’s syndrome, Camus, Meursault, L’étranger

  5. Delineating the Profile of Autism Spectrum Disorder Characteristics in Cornelia de Lange and Fragile X Syndromes

    Science.gov (United States)

    Moss, Joanna; Oliver, Chris; Nelson, Lisa; Richards, Caroline; Hall, Scott

    2013-01-01

    An atypical presentation of autism spectrum disorder is noted in Cornelia de Lange and Fragile X syndromes, but there are few detailed empirical descriptions. Participants in this study were individuals with Cornelia de Lange syndrome (n = 130, M age = 17.19), Fragile X syndrome (n = 182, M age = 16.94), and autism spectrum disorder (n = 142, M…

  6. Bladder Pain Syndrome International Consultation on Incontinence

    DEFF Research Database (Denmark)

    Hanno, P.; Lin, A.; Nordling, J.

    2010-01-01

    Aims of Study: The Bladder Pain Syndrome Committee of the International Consultation on Incontinence was assigned the task by the consultation of reviewing the syndrome, formerly known as interstitial cystitis, in a comprehensive fashion. This included the topics of definition, nomenclature......, taxonomy, epidemiology, etiology, pathology, diagnosis, symptom scales, outcome assessment, principles of management, specific therapies, and future directions in research. Study Design, Materials, Methods: The emphasis was on new information developed since the last consultation 4 years previously. Where...... possible, existing evidence was assessed and a level of recommendation was developed according to the Oxford system of classification. Results: The consultation decided to refer to the condition as "bladder pain syndrome" (BPS) because the designation is more descriptive of the clinical condition...

  7. Author Details

    African Journals Online (AJOL)

    Codo, C.N.. Vol 18, No 1 (2016) - Articles Espaces socio-educatifs et regard des jeunes : pourquoi les jeunes se sentent-ils exclus des musees ? Abstract · Vol 18, No 2 (2016): Series A - Articles Espaces socio-educatifs et regard de jeunes : pourquoi les jeunes se sentent-ils exclus des musees ? Abstract · Vol 19, No 1 ...

  8. MRI characterization of the glenohumeral joint in Apert syndrome

    Energy Technology Data Exchange (ETDEWEB)

    McHugh, Tami [University of Illinois-Chicago, Department of Radiology, Chicago, IL (United States); Wyers, Mary [Children' s Memorial Hospital, Department of Medical Imaging, Children' s Plaza, Box 9, Chicago, IL (United States); King, Erik [Children' s Memorial Hospital, Orthopaedic Surgery, Chicago, IL (United States)

    2007-06-15

    The features of craniosynostosis, facial dysmorphism, and distal extremity syndactyly in Apert syndrome are well known. However, there have been limited descriptions of the associated glenohumeral joint findings. We report the radiographic and MRI abnormalities of the glenohumeral joints in a 10-month-old girl with Apert syndrome. The MRI findings in the girl support the hypothesis that the pathogenesis of Apert syndrome is caused by defective cartilage segmentation with premature and abnormal ossification of a cartilage bar within a joint space. The resultant shoulder joint deformity is related to glenoid hypoplasia and growth arrest of the medial aspect of the humeral head. (orig.)

  9. Occupational therapy in patients after the brain injury with neglect syndrome

    OpenAIRE

    Říhová, Petra

    2015-01-01

    OF BACHELOR THESIS Title of bachelor thesis: Occupational therapy in patients after the brain injury with neglect syndrome This bachelor thesis is focused on summarizing the knowledge of the neglect syndrome, very interesting phenomenon accompanying brain injury. Thesis provides information about prevalence, etiopathogenesis, classification, clinical presentation and course of the disease. Special attention is devoted to diagnostic and therapeutic procedures and description of occupational th...

  10. Down Syndrome: General Information. Fact Sheet Number 4 = El Sindrome de Down: Informacion General. Fact Sheet Number 15.

    Science.gov (United States)

    Interstate Research Associates, McLean, VA.

    This fact sheet on Down Syndrome is offered in both English and Spanish. First it provides a definition and description of this syndrome, noting its etiology in a chromosomal abnormality. Incidence figures are then given. Typical characteristics of people with Down Syndrome are listed. Commonly associated health-related problems are noted,…

  11. Acute respiratory distress syndrome

    OpenAIRE

    Confalonieri, Marco; Salton, Francesco; Fabiano, Francesco

    2017-01-01

    Since its first description, the acute respiratory distress syndrome (ARDS) has been acknowledged to be a major clinical problem in respiratory medicine. From July 2015 to July 2016 almost 300 indexed articles were published on ARDS. This review summarises only eight of them as an arbitrary overview of clinical relevance: definition and epidemiology, risk factors, prevention and treatment. A strict application of definition criteria is crucial, but the diverse resource-setting scenarios foste...

  12. Burnout Syndrome in Pediatric Practice

    OpenAIRE

    Al-Youbi, Reem A.; Jan, Mohammed M.

    2013-01-01

    Objectives: Burnout is a common work-related syndrome consisting of emotional exhaustion, depersonalization and diminished feelings of personal accomplishment. Burnout influences the performance and efficiency of the healthcare professionals and therefore the quality of the care provided. This study aims to assess the burnout rates and potential determinants in pediatrics.Methods: A cross-sectional, descriptive study involving physicians practicing pediatrics in the Jeddah area of Saudi Arabi...

  13. Genetics of syndromic and non-syndromic mitral valve prolapse.

    Science.gov (United States)

    Le Tourneau, Thierry; Mérot, Jean; Rimbert, Antoine; Le Scouarnec, Solena; Probst, Vincent; Le Marec, Hervé; Levine, Robert A; Schott, Jean-Jacques

    2018-01-19

    Mitral valve prolapse (MVP) is a common condition that affects 2%-3% of the general population. MVP is thought to include syndromic forms such as Marfan syndrome and non-syndromic MVP, which is the most frequent form. Myxomatous degeneration and fibroelastic deficiency (FED) are regarded as two different forms of non-syndromic MVP. While FED is still considered a degenerative disease associated with ageing, frequent familial clustering has been demonstrated for myxomatous MVP. Familial and genetic studies led to the recognition of reduced penetrance and large phenotypic variability, and to the identification of prodromal or atypical forms as a part of the complex spectrum of the disease. Whereas autosomal dominant mode is the common inheritance pattern, an X linked form of non-syndromic MVP was recognised initially, related to Filamin-A gene, encoding for a cytoskeleton protein involved in mechanotransduction. This identification allowed a comprehensive description of a new subtype of MVP with a unique association of leaflet prolapse and paradoxical restricted motion in diastole. In autosomal dominant forms, three loci have been mapped to chromosomes 16p11-p12, 11p15.4 and 13q31-32. Although deciphering the underlying genetic defects is still a work in progress, DCHS1 mutations have been identified (11p15.4) in typical myxomatous disease, highlighting new molecular pathways and pathophysiological mechanisms leading to the development of MVP. Finally, a large international genome-wide association study demonstrated the implication of frequent variants in MVP development and opened new directions for future research. Hence, this review focuses on phenotypic, genetic and pathophysiological aspects of MVP. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  14. [Network clusters of symptoms as elementary syndromes of psychopathology: implications for clinical practice].

    Science.gov (United States)

    Goekoop, R; Goekoop, J G

    2016-01-01

    In a recent publication we reported the existence of around 11 (to 15) 'elementary syndromes' that may combine in various ways, rather like 'building blocks', to explain the wide range of psychiatric symptoms. 'Bridge symptoms' seem to be responsible both for combining large sets of symptoms into elementary syndromes and for combining the various elementary syndromes to form one globally connected network structure. To discuss the implication of these findings for clinical practice. We performed a network analysis of symptom scores. Elementary syndromes provide a massive simplification of the description of psychiatric disease. Instead of the more than 300 categories in DSM-5, we now need to consider only a handful of elementary syndromes and personality domains. This modular representation of psychiatric illnesses allows us to make a complete, systematic and efficient assessment of patients and a systematic review of treatment options. Clinicians, patients, managerial staff and insurance companies can verify whether symptom reduction is taking place in the most important domains of psychopathology. Unlike classic multidimensional methods of disease description, network models of psychopathology can be used to explain comorbidity patterns, predict the clinical course of psychopathology and to designate primary targets for therapeutic interventions. A network view on psychopathology could significantly improve everyday clinical practice.

  15. Pfeiffer syndrome type 2: case report

    Directory of Open Access Journals (Sweden)

    Maria Kiyoko Oyamada

    Full Text Available OBJECTIVE: To report on a case of Pfeiffer Syndrome, with a discussion of the diagnostic characteristics and features of disease types and the differential diagnosis. DESCRIPTION: The authors describe a newborn with cloverleaf skull, extreme bilateral exorbitism and choanal atresia, partial syndactyly of the second and third toes and broad medially-deviated big toes. The case reported was Pfeiffer Syndrome type 2, which usually has a poor prognosis. COMMENTS: Pfeiffer Syndrome is a clinically variable disorder and consists of an autosomal dominantly-inherited osteochondrodysplasia with craniosynostosis. It has been divided into three types. Type 1 is commonly associated with normal intelligence and generally good outcome. Types 2 and 3 generally have severe neurological compromise, poor prognosis, early death and sporadic occurrence. Potential for prolonged useful survival outcome can be achieved in some cases with early aggressive medical and surgical management according to recent literature.

  16. Studies of malformation syndromes in man XXXX: multiple congenital anomalies/mental retardation syndrome or variant familial developmental pattern; differential diagnosis and description of the McDonough syndrome (with XXY son from XY/XXY father).

    Science.gov (United States)

    Neuhäuser, G; Opitz, J M

    1975-11-13

    The McDonough syndrome is a "new" MCA/MR syndrome which was found in 3 children (1 girl, 2 boys) of non-consanguineous parents. The affected children were mentally retarded (IQ 47--67) and had congenital heart defect, sternal deformity, kyphosis and craniofacila anomalies (anteverted auricles, upward slanted palpebral fissures, squint); cryptorchidism was present in the 2 boys. In addition a possible VFDP is postulated as the explanation for similar features in affected and unaffected siblings and parents. However, the McDonough syndrome may be an autosomal recessive trait with minor manifestations in heterozygotes. The klinefelter syndrome in one affected boy and a 46,XY/47,XXY chromosome constitution in the father was a coincidental finding.

  17. Maltraitance envers les enfants déclarée par les jeunes eux-mêmes à l'occasion d'enquêtes représentatives de la population : revue systématique

    Directory of Open Access Journals (Sweden)

    Jessica Laurin

    2018-01-01

    Full Text Available Introduction : Cette revue systématique a permis de recenser des enquêtes sur les jeunes représentatives de la population et comportant des questions sur la maltraitance envers les enfants déclarée par ces derniers. Nous avons également examiné la qualité des données et les questions d’ordre éthique pertinentes pour la collecte de données sur la maltraitance. Méthodologie : Nous avons effectué une recherche dans diverses bases de données en ligne pour sélectionner les articles publiés entre janvier 2000 et mars 2016 qui contenaient des données représentatives de la population mesurant la maltraitance envers les enfants. Les critères d’inclusion ont été établis a priori et deux examinateurs ont évalué indépendamment l'un de l'autre les articles pour s’assurer que les critères étaient respectés et pour vérifier l’exactitude des données extraites. Résultats : Au total, 73 articles portant sur 71 enquêtes ont répondu aux critères d’inclusion. Nous avons relevé diverses stratégies visant à assurer l’exactitude des renseignements et à atténuer la détresse des participants à l’enquête. Conclusion : L'ampleur des efforts déployés pour mesurer la prévalence de la maltraitance envers les enfants est le reflet de l'importance accordée à cette dernière à l'échelle de la planète. Malgré des connaissances incomplètes en matière de pratiques exemplaires liées à l’éthique et de qualité des données, il est possible de recueillir efficacement auprès des jeunes eux-mêmes des données sur la maltraitance dont ils font l'objet.

  18. Camus's L'étranger and the first description of a man with Asperger's syndrome.

    Science.gov (United States)

    Shuster, Sam

    2018-01-01

    The continued discussion about the meaning of Camus's famous novel, L'étranger , provoked a re-reading, and this, in turn, led to its clinical analysis and further investigation. The book rests entirely on the thoughts, words and actions of its central character, Meursault, and these were found to show impairment of social relationships, communication and interaction, with other traits diagnostic of the Asperger's subgroup of the autism spectrum disorder. It was then found that Camus had based Meursault on his close friend Galindo, and a search was therefore made for evidence of Galindo's character; this revealed him to be an intelligent but odd person, who exhibited the characteristic impairment of social and personal behavior of Asperger's syndrome. Thus, Camus had recognized and understood his friend's strange behavior before Asperger's syndrome had been defined; his use of it for the creation of Meursault is therefore the first published account of a man with this disorder. Many of the interpretations and ideas developed from Meursault's words, thoughts and actions must now be reconsidered, as they are a misreading of the words and behavior of a man with Asperger's syndrome. The outcome of this clinical examination of L'étranger is unique; it shows that a precise account of a person with a neurobehavioral disorder was made by a novelist before the disorder had been clinically defined.

  19. Hyperfunctioning metastatic follicular thyroid carcinoma in Pendred's syndrome

    International Nuclear Information System (INIS)

    Abs, R.; Verhelst, J.; Schoofs, E.; De Somer, E.

    1991-01-01

    A 66-year-old woman with Pendred's syndrome underwent a partial thyroidectomy when she was 17 years old. At the age of 52 years, she had a second thyroid operation because of hyperthyroidism due to a toxic multinodular goiter with a mediastinal extension consisting of several separate nodules. Five years later a hyperfunctioning metastatic follicular carcinoma was diagnosed histologically. After treatment with radioactive iodine, the patient was well. To the authors' knowledge, this is the first description of a metastatic follicular thyroid carcinoma in Pendred's syndrome and the first report of hyperthyroidism occurring after malignant degeneration of a dyshormonogenetic goiter

  20. Developing syndrome definitions based on consensus and current use

    Science.gov (United States)

    Dowling, John N; Baer, Atar; Buckeridge, David L; Cochrane, Dennis; Conway, Michael A; Elkin, Peter; Espino, Jeremy; Gunn, Julia E; Hales, Craig M; Hutwagner, Lori; Keller, Mikaela; Larson, Catherine; Noe, Rebecca; Okhmatovskaia, Anya; Olson, Karen; Paladini, Marc; Scholer, Matthew; Sniegoski, Carol; Thompson, David; Lober, Bill

    2010-01-01

    Objective Standardized surveillance syndromes do not exist but would facilitate sharing data among surveillance systems and comparing the accuracy of existing systems. The objective of this study was to create reference syndrome definitions from a consensus of investigators who currently have or are building syndromic surveillance systems. Design Clinical condition–syndrome pairs were catalogued for 10 surveillance systems across the United States and the representatives of these systems were brought together for a workshop to discuss consensus syndrome definitions. Results Consensus syndrome definitions were generated for the four syndromes monitored by the majority of the 10 participating surveillance systems: Respiratory, gastrointestinal, constitutional, and influenza-like illness (ILI). An important element in coming to consensus quickly was the development of a sensitive and specific definition for respiratory and gastrointestinal syndromes. After the workshop, the definitions were refined and supplemented with keywords and regular expressions, the keywords were mapped to standard vocabularies, and a web ontology language (OWL) ontology was created. Limitations The consensus definitions have not yet been validated through implementation. Conclusion The consensus definitions provide an explicit description of the current state-of-the-art syndromes used in automated surveillance, which can subsequently be systematically evaluated against real data to improve the definitions. The method for creating consensus definitions could be applied to other domains that have diverse existing definitions. PMID:20819870

  1. Growing skull hemangioma: first and unique description in a patient with Klippel-Trénaunay-Weber syndrome.

    Science.gov (United States)

    van der Loo, Lars E; Beckervordersandforth, Jan; Colon, Albert J; Schijns, Olaf E M G

    2017-02-01

    We present the first and unique case of a rapid-growing skull hemangioma in a patient with Klippel-Trénaunay-Weber syndrome. This case report provides evidence that not all rapid-growing, osteolytic skull lesions need to have a malignant character but certainly need a histopathological verification. This material offers insight into the list of rare pathological diagnoses in an infrequent syndrome.

  2. Preventing the aortic complications of Marfan syndrome: a case-example of translational genomic medicine

    Science.gov (United States)

    Li-Wan-Po, Alain; Loeys, Bart; Farndon, Peter; Latham, David; Bradley, Caroline

    2011-01-01

    The translational path from pharmacological insight to effective therapy can be a long one. We aim to describe the management of Marfan syndrome as a case-example of how pharmacological and genomic insights can contribute to improved therapy. We undertook a literature search for studies of Marfan syndrome, to identify milestones in description, understanding and therapy of the syndrome. From the studies retrieved we then weaved an evidence-based description of progress. Marfan syndrome shows considerable heterogeneity in clinical presentation. It relies on defined clinical criteria with confirmation based on FBN1 mutation testing. Surgical advances have prolonged life in Marfan syndrome. First-line prophylaxis of complications with β-adrenoceptor blockers became established on the basis that reduction of aortic pressure and heart rate would help. Over-activity of proteinases, first suggested in 1980, has since been confirmed by evidence of over-expression of matrix metalloproteinases (MMP), notably MMP-2 and MMP-9. The search for MMP inhibitors led to the evaluation of doxycycline, and both animal studies and small trials, provided early evidence that this widely used antimicrobial agent was useful. Identification of the importance of TGF-β led to evaluation of angiotensin II type I receptor (AT1R) blockers with highly promising results. Combination prophylactic therapy would appear rational. Pharmacological and genomic research has provided good evidence that therapy with losartan and doxycycline would prevent the aortic complications of Marfan syndrome. If on-going well designed trials confirm their efficacy, the outlook for Marfan syndrome patients would be improved considerably. PMID:21276043

  3. The acute radiation syndrome in the 137Cs Brazilian accident, 1987

    International Nuclear Information System (INIS)

    Valverde, N.J.; Cordeiro, J.M.; Oliveira, A.R.; Brandao Mello, C.E.

    1989-01-01

    Eight patients with the most severe degreed of bone marrow impairment are studied. Case descriptions are limited to manifestations and complications related to the 'Acute Radiation Syndrome' (ARS). Medical facilities, exams and therapeutic management are discussed. (MAC) [pt

  4. Bartsocas-papas syndrome: unusual findings in the first reported egyptian family.

    Science.gov (United States)

    Abdalla, E M; Morsy, H

    2011-01-01

    Bartsocas-Papas syndrome (BPS) is an autosomal recessive syndrome with severe craniofacial, limb, and genital abnormalities. As of 2011, 24 published cases and families were registered in the Orphanet Report Series. Compared to other disorders characterized by pterygia, the condition is usually more severe and often lethal: most affected patients die in utero or shortly after birth. We report the first Egyptian family with Bartsocas-Papas syndrome comprising three cases; our proband who was a female infant with severe craniofacial and limb anomalies typical of Bartsocas-Papas syndrome, a similarly affected female fetus which died in utero at the 7th gestational month, and a 16-year-old mentally retarded uncle who presented with some of the typical features of Bartsocas-Papas syndrome, including syndactyly, thumb hypoplasia, and microphthalmia. This male patient actually did not present with pterygia, however, we find his clinical description noteworthy.

  5. Munchausen Syndrome and the Wide Spectrum of Factitious Disorders.

    Science.gov (United States)

    Tatu, Laurent; Aybek, Selma; Bogousslavsky, Julien

    2018-01-01

    Since its initial description in 1851, Munchausen syndrome has been widely used interchangeably with factitious disorder. Nevertheless, this syndrome is only one form of factitious disorder that is both severe and chronic. The syndrome was named after Karl Friedrich Hieronymus, Baron von Münchhausen (1720-1797), a German nobleman who became famous as a narrator of false and exaggerated exploits. His name was progressively corrupted to Munchausen. Factitious disorders and Munchausen syndrome remain a great diagnosis challenge for physicians. All medical specialities are concerned by these disorders. The diagnosis process involves a first step to exclude an unusual presentation of a common medical condition. The second step consists of excluding somatoform disorders and malingering. Unfortunately, the boundaries between factitious disorder, somatization, and malingering are often unclear. In 1977, the term "Munchausen's syndrome by proxy" was coined to define a situation where a person produces false symptoms in another one, especially a child. This term was extended to similar interactions between human and pets. Because varied conditions have been included in the definition of this syndrome, there is ongoing debate about alternative names. © 2018 S. Karger AG, Basel.

  6. Burnout syndrome in first to sixth-year medical students at a private university in the north of Mexico: descriptive cross-sectional study.

    Science.gov (United States)

    Asencio-López, Laura; Almaraz-Celis, Guillermo Daniel; Carrillo Maciel, Vicente; Huerta Valenzuela, Paola; Silva Goytia, Luis; Muñoz Torres, Marcos; Monroy Caballero, Fernando; Regalado Tapia, Joel; Dipp Martin, Kerigma; López Miranda, Dinorah; Medina Lavenant, Clyvia; Pizarro Rodríguez, Karen; Santiago Martínez, Cesar; Saucedo Aparicio, Alma Geovanna; Flores Lepe, Rodolfo

    2016-04-25

    Burnout syndrome is a three-dimensional clinical syndrome caused by stress at work. It is frequent in professions which require direct contact with people. In Mexico, the presence of Burnout Syndrome in doctors and medical students, is characterized as a threat to their health, quality of life and professional performance. To evaluate the prevalence of burnout syndrome in students of years 1 through 6 of medical school at a private university in northern Mexico. Cross-sectional study in the Escuela de Medicina Campus Laguna de la Universidad Autónoma de Durango. The one-dimensional scale of Burnout Student (EUBE) and the Maslach Burnout Inventory (MBI) were applied to the participants. SPSS 19 was used to analyze the data. Of the 344 students, 255 participated; 153 from years 1 to 3 (group 1); and 72 from years 4 to 6 (group 2). We found that 94.1% of the students of group 1 had mild burnout syndrome, and 2.8% had moderate burnout syndrome. In Group 2, 27.8% had moderate burnout syndrome, and 8.3% had severe burnout syndrome. The prevalence of severe burnout syndrome was higher in group 2 than in group 1 (p=0.02). Burnout syndrome affects medical students across all stages of their studies, and develops in a progressive way. In our study, external factors have no influence on the development of burnout syndrome.

  7. Pain control methods in use and perceived effectiveness by patients with Ehlers-Danlos syndrome: a descriptive study.

    Science.gov (United States)

    Arthur, Karen; Caldwell, Karen; Forehand, Samantha; Davis, Keith

    2016-01-01

    The purpose of this study was to assess the pain control methods in use by patients who have Ehlers-Danlos Syndrome (EDS), a group of connective tissue disorders, and their perceived effectiveness. This descriptive study involved 1179 adults diagnosed with EDS who completed an anonymous on-line survey. The survey consisted of demographics information, the Patient Reported Outcomes Measurement Information System (PROMIS) Pain-Behavior, PROMIS Pain-Interference, and Neuro QOL Satisfaction with Social Roles and Activities scales, as well as a modified version of the Pain Management Strategies Survey. Respondents reported having to seek out confirmation of their EDS diagnosis with multiple healthcare providers, which implies the difficulty many people with EDS face when trying to gain access to appropriate treatment. Patients with EDS experience higher levels of pain interference and lower satisfaction with social roles and activities compared to national norms. Among the treatment modalities in this study, those perceived as most helpful for acute pain control were opioids, surgical interventions, splints and braces, avoidance of potentially dangerous activities and heat therapy. Chronic pain treatments rated as most helpful were opioids, splints or braces and surgical interventions. For methods used for both acute and chronic pain, those perceived as most helpful were opioids, massage therapies, splints or braces, heat therapy and avoiding potentially dangerous activities. EDS is a complex, multi-systemic condition that can be difficult to diagnose and poses challenges for healthcare practitioners who engage with EDS patients in holistic care. Improved healthcare provider knowledge of EDS is needed, and additional research on the co-occurring diagnoses with EDS may assist in comprehensive pain management for EDS patients. Ehlers-Danlos Syndrome (EDS) is a group of connective tissue disorders associated with defective production of collagen, which can dramatically

  8. INHERITED PATHOLOGY OF β2-LAMININ (PIERSON SYNDROME: CLINICAL AND GENETIC ASPECTS

    Directory of Open Access Journals (Sweden)

    M.Yu. Kagan

    2010-01-01

    Full Text Available For the last decade a great successes were attained in the study of molecular bases of glomerular diseases. It was certain that the most frequent reasons of congenital and infantile nephrotic syndrome are mutations in the genes of NPHS1, NPHS2, and WT1. Nevertheless, until now, a number of patients, having combination of early nephrotic syndrome with inherent pathology of other organs, which etiology remains un known. These cases continue to be intensively probed. One of the most important recent achievements in understanding of molecular mechanisms of early nephrotic syndrome is the discovery of mutations of gene of LAMB2, encoding β2 laminin, as the cause of Pearson syndrome (OMIM#609049. In this article the author presents the basic genetic and clinical descriptions of this recently identified pathology. Key words: Pearson syndrome, congenital nephrotic syndrome, β2 laminin, malformation of organ of vision. (Pediatric Pharmacology. – 2010; 7(3:114-117

  9. Cohort description

    DEFF Research Database (Denmark)

    Dantoft, Thomas Meinertz; Ebstrup, Jeanette Frost; Linneberg, Allan

    2017-01-01

    -76 years from the general population examined from 2011 to 2015. The survey comprises screening questionnaires for five types of FSS, ie, fibromyalgia, whiplash-associated disorder, multiple chemical sensitivity, irritable bowel syndrome, and chronic fatigue syndrome, and for the unifying diagnostic......The Danish study of Functional Disorders (DanFunD) cohort was initiated to outline the epidemiology of functional somatic syndromes (FSS) and is the first larger coordinated epidemiological study focusing exclusively on FSS. FSS are prevalent in all medical settings and can be defined as syndromes...... category of bodily distress syndrome. Additional data included a telephone-based diagnostic interview assessment for FSS, questionnaires on physical and mental health, personality traits, lifestyle, use of health care services and social factors, and a physical examination with measures...

  10. A closer look at the history and genetics of Tourette syndrome

    OpenAIRE

    Díaz-Anzaldúa, Adriana; Rouleau, Guy A.

    2008-01-01

    Tourette syndrome (TS) was named after Georges Albert Edouard Brutus Gilles de la Tourette, who made its first formal description at the end of the 19th century. Nevertheless, some evidence indicates the disorder may have been recognised at least two thousand years ago. Tic like behaviours were recorded by Aretaeus of Cappadocia and several centuries later by Sprenger and Kraemer, followed by other descriptions. The English writer Samuel Johnson, author of the first English Language Dictionar...

  11. Caracterisation sociodemographique, clinique et criminologique d?une population de 210 meurtriers

    OpenAIRE

    2009-01-01

    Resume Cet article, de nature essentiellement descriptive, interroge les caracteristiques sociodemographiques, cliniques et criminologiques d?une population de 210 meurtriers examines par deux experts psychiatres angevins pendant une periode de 30 ans. Les meurtriers de notre serie sont majoritairement des hommes (73 %) d?age jeune, 33 ans en moyenne, sans emploi (51 %), vivant seuls au moment des faits (49 %). Ils ont des antecedents psychiatriques dans deux tiers des cas et des a...

  12. Du vinyle à YouTube : les habitudes de consommation et de recherche de musique des jeunes adultes québécois

    Directory of Open Access Journals (Sweden)

    Ariane Legault-Venne

    2017-02-01

    Full Text Available Il existe peu d’études récentes sur les habitudes de consommation et le comportement dans la recherche d’information musicale au Québec et au Canada. Pourtant, les études réalisées sur le sujet dans d’autres pays suggèrent que l’évolution rapide des technologies a entraîné des changements importants dans les habitudes et comportements des amateurs de musique. Il est essentiel d’avoir une bonne connaissance de ces pratiques pour concevoir des systèmes de repérage et d’exploration de la musique qui répondent aux besoins réels de leurs utilisateurs. Cet article présente les résultats d’une enquête menée auprès de 278 personnes âgées de 18 à 35 ans habitant au Québec. Les objectifs de l’enquête étaient de mieux connaître les habitudes d’achat et d’écoute de musique des jeunes adultes québécois ainsi que la façon dont ils s’y prennent pour découvrir de nouveaux artistes et de nouvelles musiques. Les résultats révèlent que les services d’écoute de musique en continu et les sites de partage de vidéos étaient utilisés par 78% des répondants. Malgré la popularité croissante de ces services, les jeunes québécois n’ont pas totalement délaissé certaines pratiques plus traditionnelles. Ils continuent de valoriser les recommandations musicales de leurs proches, d’écouter de la musique sur CD et d’acheter des fichiers musicaux, même si ces pratiques sont de moins en moins fréquentes. Very few recent studies have focused on Quebeckers’ and Canadians’ consumption and information-seeking behaviour of music for leisure. However, studies conducted in other countries suggest that the rapid evolution of technologies has resulted in important changes in practices. It is essential to gain a better knowledge of these new practices to design music information retrieval and exploration systems that meet the real needs of users. This article presents the results of a survey of 278 younger

  13. Collateral abdominal circulation in patient with Leriche's syndrome diagnosed with 64-row multislice computed tomography (MSCT)

    International Nuclear Information System (INIS)

    Staskiewicz, G.; Drop, A.

    2008-01-01

    Leriche's syndrome results from slowly developing occlusion of the abdominal aorta. It affects mainly middle-aged males. The blood flow distal to the occlusion site is secured by collateral circulation. Signs of Leriche's syndrome include claudication, gluteal pain and impotence. The paper presents a patient with Leriche's syndrome, in whom a detailed visualization of collateral circulation was obtained with multislice computed tomography angiography. Patient underwent surgical recanalization of the aorta with an excellent result. To our knowledge, the presented case is the first description of collateral circulation in Leriche's syndrome obtained with 64-row computed tomography. (author)

  14. Scleroderma of geriatric age and scleroderma-like paraneoplastic syndrome – description of two cases

    Directory of Open Access Journals (Sweden)

    Magdalena Marek

    2016-06-01

    Full Text Available Systemic sclerosis (Ssc is an autoimmune connective tissue disease of unknown origin, characterized by progressive fibrosis of the skin and internal organs. Immune reactions taking part in Ssc pathogenesis may contribute to cancer development; therefore patients with risk factors for this disease require observation for a neoplastic process. On the other hand, symptoms of Ssc may be a mask of various cancers. Differentiating between the idiopathic form of Ssc and scleroderma-like paraneoplastic syndrome often causes a lot of difficulties. The article presents two cases of Ssc at the beginning of the disease after 60 years of age. The first case was diagnosed as Ssc, whereas in the second case the defined diagnosis was scleroderma-like syndrome in the course of colorectal cancer. This paper presents an analysis of differential diagnostic procedures which were performed and led to the final diagnosis, mentions types of cancers co-occurring with Ssc and suggests a screening scheme for cancer development in patients with a diagnosis of Ssc.

  15. Agir de manière appropriée: la participation des jeunes à l'aménagement

    Directory of Open Access Journals (Sweden)

    Juan Torres

    2009-06-01

    Full Text Available La réflexion sur l’éthique et la participation des jeunes et des enfants à l’aménagement comporte au moins deux dimensions : d’une part, les justifications d’une telle participation ; d’autre part, les problèmes que la pratique participative fait émerger et face auxquels les cadres de référence conventionnels (non participatifs ne sont pas toujours utiles. Le présent article aborde ces deux dimensions et explore leurs liens à la lumière de trois méthodes distinctes en matière de théorie morale, soit l’éthique déontologique, l’éthique conséquentialiste et l’éthique de la vertu. Sur la base d’une expérience participative d’aménagement inscrite dans le programme Grandir en Ville de l’UNESCO, certaines contradictions entre les principes d’une pratique participative avec des enfants et la manière dont les problèmes éthiques sont parfois gérés sont mises en évidence. Two dimensions can be considered in a reflection on the ethics of participatory design and planning with children and youth: on the one hand, the justifications of participation; on the other hand, the issues that participatory practice may raise and that may come out of traditional (non participatory frames of reference. This paper explores the relationship between these two dimensions in the light of three distinct methodological approaches in moral theory: deontological ethics, utilitarian ethics and virtue ethics. Drawing on the experience of a UNESCO-Growing Up in Cities project, the paper stresses some contradictions between the principles of participatory practice and how the ethical issues are sometimes managed.

  16. Imaging biomarkers in Parkinson?s disease and Parkinsonian syndromes: current and emerging concepts

    OpenAIRE

    Saeed, Usman; Compagnone, Jordana; Aviv, Richard I.; Strafella, Antonio P.; Black, Sandra E.; Lang, Anthony E.; Masellis, Mario

    2017-01-01

    Two centuries ago in 1817, James Parkinson provided the first medical description of Parkinson?s disease, later refined by Jean-Martin Charcot in the mid-to-late 19th century to include the atypical parkinsonian variants (also termed, Parkinson-plus syndromes). Today, Parkinson?s disease represents the second most common neurodegenerative disorder with an estimated global prevalence of over 10 million. Conversely, atypical parkinsonian syndromes encompass a group of relatively heterogeneous d...

  17. Upper urinary tract carcinoma in Lynch syndrome cases.

    Science.gov (United States)

    Crockett, David G; Wagner, David G; Holmäng, Sten; Johansson, Sonny L; Lynch, Henry T

    2011-05-01

    Patients with Lynch syndrome are much more likely to have generally rare upper urinary tract urothelial carcinoma but not bladder urothelial carcinoma. While the risk has been quantified, to our knowledge there is no description of how this population of patients with Lynch syndrome and upper urinary tract cancer differs from the general population with upper urinary tract cancer. We obtained retrospective data on a cohort of patients with Lynch syndrome from the Hereditary Cancer Center in Omaha, Nebraska and compared the data to those on a control general population from western Sweden. These data were supplemented by a new survey about exposure to known risk factors. Of the patients with Lynch syndrome 91% had mutations in MSH2 rather than in MSH1 and 79% showed upper tract urothelial carcinoma a mean of 15.85 years after prior Lynch syndrome-type cancer. Median age at diagnosis was 62 years vs 70 in the general population (p Lynch syndrome 51% had urothelial carcinoma in the ureter while it occurred in the renal pelvis in 65% of the general population (p = 0.0013). Similar numbers of high grade tumors were found in the Lynch syndrome and general populations (88% and 74%, respectively, p = 0.1108). Upper urinary tract tumors develop at a younger age and are more likely to be in the ureter with an almost equal gender ratio in patients with Lynch syndrome. It has high grade potential similar to that in the general population. Copyright © 2011 American Urological Association Education and Research, Inc. Published by Elsevier Inc. All rights reserved.

  18. Cerebellar Ataxia with Bilateral Vestibulopathy: Description of a Syndrome and Its Characteristic Clinical Sign

    Science.gov (United States)

    Migliaccio, Americo A.; Halmagyi, G. Michael; McGarvie, Leigh A.; Cremer, Phillip D.

    2004-01-01

    We report four patients with the syndrome of cerebellar ataxia with bilateral vestibulopathy (CABV) and, using search coil oculography, we validate its characteristic clinical sign, namely impairment of the visually enhanced vestibulo-ocular reflex (VVOR) or doll's head reflex. In our four patients, CABV began in the sixth decade of life; they are…

  19. [Clinical case of management of a patient with Guillain-Barre syndrome].

    Science.gov (United States)

    Popov, A V; Babak, C I; Murashko, N K

    2012-01-01

    Syndrome of Giyena-Barre can arise up in any age, in different regions, for men more frequent, than for women. There are descriptions of clinical supervisions of syndrome in domestic literature, combining with the defeat of the nervous system as a result of different pathogens which are procatarxiss in the start of mechanisms of immune attack on the albumens of mielina. However this disease continues to remain one of most heavy, requiring neyroreanimacionnykh measures, that causes the necessity of development of new methods of treatment in same queue.

  20. What are patients with Rett syndrome interested in?

    Science.gov (United States)

    Hirano, Daisuke; Taniguchi, Takamichi

    2018-02-01

    [Purpose] Rett syndrome is a severe neurodevelopmental disease; individuals typically have no verbal skills or purposeful hand movements. In clinical settings, knowledge of their interests would be helpful for therapy. Therefore, we investigated the interests of Rett syndrome patients. [Subjects and Methods] In 2016, we sent a questionnaire regarding the interests of individuals with Rett syndrome to 1,016 directors of schools for special needs education and 204 directors of rehabilitation departments (130 facilities for persons with severe motor and intellectual disabilities, 73 wards for patients with severe motor and intellectual disabilities, and the National Hospital Organization and National Center Hospital, and the National Center of Neurology and Psychiatry) in Japan. We used descriptive statistics and content analysis to examine the answers to the questionnaires. [Results] Information was acquired from 216 individuals (3-53 years old) with Rett syndrome. 92.9% of the individuals were reported to have some interests (e.g., in people, music, things to see, animation, or books). [Conclusion] Individuals with Rett syndrome were observed to be interested in various things despite their having severe motor and intellectual disabilities. These findings suggest that family members and care staff might facilitate various changes or developments of these individuals and discover their hidden strengths by focusing on their interests.

  1. Primary diagnosis of Wolfram syndrome in an adult patient--case report and description of a novel pathogenic mutation.

    Science.gov (United States)

    Waschbisch, Anne; Volbers, Bastian; Struffert, Tobias; Hoyer, Juliane; Schwab, Stefan; Bardutzky, Juergen

    2011-01-15

    Wolfram syndrome is a rare, autosomal recessive, neurodegenerative disorder presenting with the main clinical symptoms of childhood-onset diabetes mellitus, optic atrophy, diabetes insipidus and deafness (DIDMOAD). Later stages of the disease are dominated by neurological complications and death occurs early in life with a median life expectancy of 30 years. Here we present a 44 year old patient who presented to our hospital with central respiratory failure, cognitive impairment, ataxia and parkinsonism and was first diagnosed with Wolfram syndrome. DNA sequence analysis revealed a novel pathogenic mutation within the WFS1 gene. Advanced clinical and imaging studies performed in this patient highlight the neurodegenerative process in Wolfram syndrome and expand our knowledge on the mutational spectrum of the disease. Copyright © 2010 Elsevier B.V. All rights reserved.

  2. A Description of Skeletal Manifestation in Adult Case of Morquio Syndrome: Radiographic and MRI Appearance

    Directory of Open Access Journals (Sweden)

    Annalisa Di Cesare

    2012-01-01

    Full Text Available We report on a rare case of Morquio syndrome, an autosomal recessive mucopolysaccharidosis including type IVA, a deficiency of N-acetylgalctosamine-6-sulfatase and type IVB a deficiency of β-galactosidase. A 43-year-old female patient affected by IVB Morquio syndrome underwent instrumental investigation. Conventional plain films of the entire spine, pelvis, chest and knees together with magnetic resonance imaging of the entire column, hip, knees, and ankles demonstrated the characteristics of skeletal changes of this disease. The main abnormalities were platyspondily and hypoplasia of the odontoid process, genua valga deformity and severe multiple degenerative changes of the hips, knees, and ankle joints. Radiographs and above all magnetic resonance imaging are crucial to provide substantial information about the gravity, evolution of the skeletal and joints changes, and the rehabilitation strategies to be followed.

  3. Traditional Chinese Medicine Syndromes for Essential Hypertension: A Literature Analysis of 13,272 Patients

    Directory of Open Access Journals (Sweden)

    Jie Wang

    2014-01-01

    Full Text Available Background. To simplify traditional Chinese medicine syndrome differentiation and allow researchers to master syndrome differentiation for hypertension, this paper retrospectively studied the literature and analyzed syndrome elements corresponding to hypertension syndromes. Methods. Six databases including PubMed, EMBASE, Chinese Bio-Medical Literature Database, Chinese National Knowledge Infrastructure, Chinese Scientific Journal Database, and Wan-fang Data were searched from 1/January/2003 to 30/October/2013. We included all clinical literature testing hypertension syndromes and retrospectively studied the hypertension literature published from 2003 to 2013. Descriptive statistics calculated frequencies and percentages. Results. 13,272 patients with essential hypertension were included. Clinical features of hypertension could be attributed to 11 kinds of syndrome factors. Among them, seven syndrome factors were excess, while four syndrome factors were deficient. Syndrome targets were mainly in the liver and related to the kidney and spleen. There were 33 combination syndromes. Frequency of single-factor syndromes was 31.77% and frequency of two-factor syndromes was 62.26%. Conclusions. Excess syndrome factors of hypertension patients include yang hyperactivity, blood stasis, phlegm turbidity, internal dampness, and internal fire. Deficient syndrome factors of hypertension patients are yin deficiency and yang deficiency. Yin deficiency with yang hyperactivity, phlegm-dampness retention, and deficiency of both yin and yang were the three most common syndromes in clinical combination.

  4. SIG POSTER

    International Development Research Centre (IDRC) Digital Library (Canada)

    Cibler les sources de sous-emploi. Constituer une base de données probantes pour établir des mesures qui s'attaquent au chômage croissant parmi les diplômés. Évaluer l' impact des programmes existants de formation pour les jeunes. Supprimer les obstacles qui freinent l'essor des jeunes femmes. Les jeunes.

  5. Stylocarotid syndrome: A case report

    Directory of Open Access Journals (Sweden)

    Petrović Branko

    2008-01-01

    Full Text Available INTRODUCTION The American otolaryngologist Eagle was the first to describe styloid syndrome in 1937 and the syndrome was named after him (Eagle's syndrome. The original description of two separate syndromes is connected with his name: classical syndrome, which almost constantly occurs after tonsillectomy and carotid artery syndrome, which occurs without tonsillectomy and also in cases when stylohyoid complex compresses the carotid segments and perivascular sympathetic fibers. In the following years, two more syndromes were defined: stylohyoid and pseudostylohyoid, which according to their manifestations, correspond to the genuine classical form. CASE OUTLINE A 40-year old male is presented, with a history of 3-year duration of pains in the upper part of the left side of the neck, in the left eye and its surroundings. Pain occurrences were not regular. Throbbing pains were most often provoked by sudden head movements and neck compression. He was healthy until the onset of these problems. The findings of all examinations were normal. The applied prophylactic therapy, typical for cluster headache, was without any effect. On 64-MSCT (multislice computed tomography, the neck arteries did not show any intraluminal pathology. The styloid processes were of normal length. On the left side, the styloid process tip pressed the internal carotid artery disturbing its longitudinal axis. CONCLUSION In our presentation, the defined lengths of the styloid processes were normal. The medial angulation of the left styloid process was more expressed reaching 63.5 degrees (the right side angulation was normal. Persistent and throbbing pain in the region of the left eye with backward projection suggested compression on the internal carotid artery. Pains were most frequently provoked by head turning and neck compression. 64-MSCT diagnostics enabled us to determine the characteristics of styloid processes and their relation to the internal carotid artery. Improvement

  6. [Occupational carpal tunnel syndrome: 27 cases].

    Science.gov (United States)

    Slimane, Neila Ben; Elleuch, Mohamed; Gharbi, Ezzedine; Babay, Habib; Hamdoun, Moncef

    2010-09-01

    Carpal tunnel syndrome is the most frequent of tunnel syndromes in the field of the professional sphere. It is related to repetitive movements of flexion-extension of the wrist and fingers or to a support on the heel of the hands. To determine the posts in a risk and to specify the modalities of guaranteed reimbursement of professional carpal tunnel syndrome. A retrospective and descriptive study of 27 medical files of employees indemnified for professional carpal tunnel syndrome registered in the medical control services of the social security office in charge of medical insurance of Tunis and Sousse during a period of 10 years (1995-2004). There were 24 women and 3 men with the average age of 40 years all occupying posts in a risk. Their average time of service is 15 years. Tow-thirds of them work in the clothing and textile industry. The attack is bilateral in 13 cases. Nightly acroparaesthesia rules the clinical rate (44.44% of cases). Motor disorders are noted in the quarter of cases. The electromyogram had confirmed diagnosis in all of cases. The previous state study put in evidence the antecedent of carpal tunnel syndrome in 5 cases and diabetes in one case. Twenty-one patients had profit of permanent partial incapacity with a rate varying from 3 to 25%. Five had got a transfer of working place and one stayed in the same post with a half-time work. The professional origin of carpal tunnel syndrome must be called up in front of an activity in a risk. The reparation is done according to picture 82 of occupational diseases.

  7. Locked-in: the syndrome as depicted in literature.

    Science.gov (United States)

    Haan, Joost

    2013-01-01

    Protagonists who are locked-in can be found throughout fiction, probably because being locked-in serves as a strong philosophical metaphor for human existence. In this chapter, three protagonists who are locked-in due to physical/medical reasons will be described. The fictitious stories of Noirtier from The Count of Monte Cristo by Alexandre Dumas and that of Madame Raquin from Thérèse Raquin by Émile Zola are followed by the real-life story of Jean-Dominique Bauby's The Diving Bell and the Butterfly. Dumas' Noirtier is considered the first description of the locked-in syndrome in literature, and Madame Raquin appears to be locked-in also, but her description leaves many questions. Bauby's autopathography is chosen from many several similar discourses as it contains cross-references to Noirtier, Dumas' prototype of the syndrome, but also because it is of high literary value. The similarities and remarkable differences between these three case reports of this existentialistically important state of being will be highlighted, with an emphasis on the focus of their narratives. © 2013 Elsevier B.V. All rights reserved.

  8. Famous people with Gilles de la Tourette syndrome?

    Science.gov (United States)

    Monaco, Francesco; Servo, Serena; Cavanna, Andrea Eugenio

    2009-12-01

    Virtually no neurologist nor psychiatrist today can be unaware of the diagnosis of Gilles de la Tourette syndrome (GTS). Although the eponymous description by Dr. Georges Gilles de la Tourette was published in 1885, familiarity with this syndrome has been achieved only recently. In this article, the two most renown accounts of exceptional individuals retrospectively diagnosed with GTS are critically analyzed: British lexicographer Samuel Johnson and Austrian musician Wolfgang Amadeus Mozart. In both cases, clinical descriptions have been retrieved from written documents predating Gilles de la Tourette's original publication. The case for Samuel Johnson having GTS is strong, mainly based on Boswell's extensive biographical account. Johnson was reported to have a great range of tics and compulsions, including involuntary utterances, repetitive ejaculations, and echo-phenomena. On the other hand, there is circumstantial evidence that Mozart may have had hyperactivity, restlessness, sudden impulses, odd motor behaviors, echo/palilalia, love of nonsense words, and scatology, the latter being documented in autograph letters ("coprographia"). However, the evidence supporting the core features of GTS, i.e., motor and vocal tics, is rather inconsistent. Thus, GTS seems to be an implausible diagnosis in Mozart's medical history and completely unrelated to his undisputed musical genius.

  9. An autoimmune myositis-overlap syndrome associated with autoantibodies to nuclear pore complexes: description and long-term follow-up of the anti-Nup syndrome.

    Science.gov (United States)

    Senécal, Jean-Luc; Isabelle, Catherine; Fritzler, Marvin J; Targoff, Ira N; Goldstein, Rose; Gagné, Michel; Raynauld, Jean-Pierre; Joyal, France; Troyanov, Yves; Dabauvalle, Marie-Christine

    2014-11-01

    Autoimmune myositis encompasses various myositis-overlap syndromes, each being identified by the presence of serum marker autoantibodies. We describe a novel myositis-overlap syndrome in 4 patients characterized by the presence of a unique immunologic marker, autoantibodies to nuclear pore complexes. The clinical phenotype was characterized by prominent myositis in association with erosive, anti-CCP, and rheumatoid factor-positive arthritis, trigeminal neuralgia, mild interstitial lung disease, Raynaud phenomenon, and weight loss. The myositis was typically chronic, relapsing, and refractory to corticosteroids alone, but remitted with the addition of a second immunomodulating drug. There was no clinical or laboratory evidence for liver disease. The prognosis was good with 100% long-term survival (mean follow-up 19.5 yr).By indirect immunofluorescence on HEp-2 cells, sera from all 4 patients displayed a high titer of antinuclear autoantibodies (ANA) with a distinct punctate peripheral (rim) fluorescent pattern of the nuclear envelope characteristic of nuclear pore complexes. Reactivity with nuclear pore complexes was confirmed by immunoelectron microscopy. In a cohort of 100 French Canadian patients with autoimmune myositis, the nuclear pore complex fluorescent ANA pattern was restricted to these 4 patients (4%). It was not observed in sera from 393 adult patients with systemic sclerosis (n = 112), mixed connective tissue disease (n = 35), systemic lupus (n = 94), rheumatoid arthritis (n = 45), or other rheumatic diseases (n = 107), nor was it observed in 62 normal adults.Autoantibodies to nuclear pore complexes were predominantly of IgG isotype. No other IgG autoantibody markers for defined connective tissue diseases or overlap syndromes were present, indicating a selective and highly focused immune response. In 3 patients, anti-nuclear pore complex autoantibody titers varied in parallel with myositis activity, suggesting a pathogenic link to

  10. A subtype based analysis of urological chronic pelvic pain syndrome in men.

    Science.gov (United States)

    Davis, Seth N P; Binik, Yitzchak M; Amsel, Rhonda; Carrier, Serge

    2013-07-01

    The current conceptualization of urological chronic pelvic pain syndrome in men recognizes a wide variety of pain, psychosocial, sexual and urological symptoms and markers that may contribute to decreased quality of life. Unfortunately, this syndrome is difficult to clearly define and treat due to heterogeneous symptom profiles. We systematically describe these heterogeneous symptoms and investigated whether they could be subtyped into distinct syndromes. A total of 171 men diagnosed with urological chronic pelvic pain syndrome completed validated questionnaires, a structured genital pain interview, digital pain threshold testing and urological assessment. Pain interview results are systematically presented as descriptive information. We used k-means cluster analysis to define subtypes. Seven homogenous, distinct clusters were defined, each with a remarkably different symptom presentation. These clusters were described and related to previous hypotheses of urological chronic pelvic pain syndrome etiology. These clusters may represent distinct subtypes of urological chronic pelvic pain syndrome that can be used to guide treatment more effectively. Defining subtypes may also improve our understanding of the underlying mechanisms of urological chronic pelvic pain syndrome. Copyright © 2013 American Urological Association Education and Research, Inc. Published by Elsevier Inc. All rights reserved.

  11. A study on the carotid artery ultrasonography for the metabolic syndrome

    International Nuclear Information System (INIS)

    Kong, Hye Jung; Cho, Pyong Kon; Kang, Young Han

    2013-01-01

    The primary goal of this study was to ascertain the primary factors to the affect for the carotid artery intima-media thickness (IMT), the prevalence of metabolic syndrome and other risks can possibly influence the carotid artery IMT. All patients data (total specimens: 289, male: 197, female: 92) including the carotid artery ultrasonography examination. The all data were analyzed by the use of SPSS software, version 21.0 (SPSS, Chicago, IL USA), with the descriptive statistics method. The Results of this study was found to be highly increased in the males than the females. The prevalence of metabolic syndrome in all of the participants was 30.5 percentages. The carotid artery IMT in the subjects with metabolic syndrome was significantly high in both genders, compared to the rest, who were without metabolic syndrome. The Pearsons correlation coefficient of metabolic syndrome and CIMT was 0.378(p<0.01). In conclusions, the present study also supports the association between the carotid artery IMT and the metabolic syndromes with cardiovascular risk factors. Usage of B-mode ultrasonography to measure the carotid artery IMT was found to be highly effective in the current analysis

  12. A study on the carotid artery ultrasonography for the metabolic syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Kong, Hye Jung; Cho, Pyong Kon [Dept. of Radiological Science, Catholic University of Daegu, Daegu (Korea, Republic of); Kang, Young Han [Dept. of Radiology, Catholic University Hospital of Daegu, Daegu (Korea, Republic of)

    2013-09-15

    The primary goal of this study was to ascertain the primary factors to the affect for the carotid artery intima-media thickness (IMT), the prevalence of metabolic syndrome and other risks can possibly influence the carotid artery IMT. All patients data (total specimens: 289, male: 197, female: 92) including the carotid artery ultrasonography examination. The all data were analyzed by the use of SPSS software, version 21.0 (SPSS, Chicago, IL USA), with the descriptive statistics method. The Results of this study was found to be highly increased in the males than the females. The prevalence of metabolic syndrome in all of the participants was 30.5 percentages. The carotid artery IMT in the subjects with metabolic syndrome was significantly high in both genders, compared to the rest, who were without metabolic syndrome. The Pearsons correlation coefficient of metabolic syndrome and CIMT was 0.378(p<0.01). In conclusions, the present study also supports the association between the carotid artery IMT and the metabolic syndromes with cardiovascular risk factors. Usage of B-mode ultrasonography to measure the carotid artery IMT was found to be highly effective in the current analysis.

  13. Coronary Angiography Findings and Its Determinants in Patients Presenting With Acute Coronary Syndrome: A Descriptive Analysis from Asian Population.

    Science.gov (United States)

    Chourasiya, M; Satheesh, S; Selvaraj, R; Jayaraman, B; Pillai, A A

    2017-10-01

    The aim was to study the angiographic profile in patients presented as acute coronary syndrome and its relation with risk factors and comparison between genders. This prospective observational study was performed on total 352 patients of acute coronary syndrome were analyzed for various risk factors, angiographic pattern in Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Puducherry, South India from January 2015 to July 2016. Mean age of presentation was 52.62±11.63 years. Male were 271(77.0%) and female were 81(23.0%). Majority of patients were STEMI (67.6%) followed by UA (24.4%) and NSTEMI (8%). Smoker was 117(33.3%) patients. Hypertensive were 124(35.2%) of patients and 149(42.3%) were diabetics. Family history of CAD was positive in 45(12.8%). On angiographic evaluation left main reference diameter was lower in females (4.02±0.72) than males (4.07±0.82). LAD was most commonly involved followed by RCA and LCX among all three group of acute coronary syndrome. Left main was least involved (8.3%). In STEMI SVD (40.3%) was most common presentation, after that DVD was seen in 22.3%, TVD in 10.5%, non-obstructive coronary was seen in 16% of patients and normal coronary was seen in 11% of patients. In UA 28%, 22.8%, 13.2%, 15.8%, 20.2% was seen in SVD, DVD, TVD, non-obstructive and normal coronary respectively. Long length coronary lesions (>20mm) were seen in majority in all type of acute coronary syndrome. Coronary lesion length was not associated with presentation acute coronary syndrome and genders. Male were most commonly presented as acute coronary syndrome. STEMI was most common presentation. Diabetic was most prevalent risk factor. SVD was most common angiographic pattern and LAD was most common involved arteries.

  14. Prevalence of depressive symptoms in metabolic syndrome

    Directory of Open Access Journals (Sweden)

    Sonia María López C

    2008-06-01

    Full Text Available Depression has been related with alterations of glucose metabolism, hypertension, hypercholesterolemia, adiposity and dislipidemias, which constitute the metabolic syndrome (m s. Objective: to determine the frequency of depressive symptoms in patients with m s. Material and methods: an observational, descriptive, transverse study was carried out in 101 patients with m s(69 women and 32 men. The Beck inventory for depression was applied. Vasodilatation in the brachial artery and the thickness of the carotid intimae-media were evaluated by means of ultrasonographic measurement. Abdominal perimeter, trygliceridemia, cholesterolemia and insulin resistance were calculated. The statistic treatment was performed by means of descriptive and inferential through mean, standard deviation, and correlation proofs. Insulin resistance was calculated by the h o m a method. Results:prevalence of depressive symptoms: 46.34% between patients with m s (correlation of 0.42 significative at p = 0.05. A higher number of components of the syndrome correlates with higher severity of the depression. Depressive symptoms were associated to a higher insulin resistance, low levels of c- h d l, hypertension and carotid atherosclerosis. Conclusion: depression has a high prevalence in the m s and its associates with a higher number of metabolic and vascular disturbances

  15. Syndrome of Churg Strauss; Sindrome de Churg Strauss

    Energy Technology Data Exchange (ETDEWEB)

    Sanchez Morales, Edgar Alberto; Saavedra Rodriguez, Alfredo; Henao Riveros, Sandra

    2002-09-01

    The Churg-Strauss syndrome denominated allergic granulomatosis and angeitis is characterized by a systemic vasculitis of small glasses, extravascular granulomas and hypereosinophilia. Initially described by Jacob Churg and Lotte Strauss, two pathologists who in 1951 they published the description of 13 patient postmortem with tisular infiltration for eosinophils, necrotizant vasculitis and extravascular granulomas. The paper includes nomenclature, classification approaches, pathogenesis, pathology, and clinical aspects and diagnostic.

  16. Prevalence of metabolic syndrome among Filipino-Americans: a cross-sectional study.

    Science.gov (United States)

    Dalusung-Angosta, Alona; Gutierrez, Antonio

    2013-11-01

    The aims of this study are a) to examine the prevalence of metabolic syndrome among Filipino-Americans, b) to compare the rate of metabolic syndrome between Filipino men and women, and c) to examine the prevalence of central adiposity. Filipino-Americans are the second largest Asian subgroup in the United States and their leading cause of death is coronary heart disease (CHD). This study utilized a descriptive correlational, cross-sectional design that included a convenience sample of 300 Filipino-Americans residing in Southern Nevada. Survey questionnaires were used to collect the sample's demographic data and presence of CHD risk factors. Waist circumference measurements were used to examine central adiposity. Metabolic syndrome and central adiposity are highly prevalent among Filipino-Americans residing in Southern Nevada. More men than women had the syndrome, but the rate of central adiposity was significantly higher in women than in men. Intensive lifestyle modifications and treatment are indicated to decrease the prevalence of metabolic syndrome and the risk of heart disease in this group. Published by Elsevier Inc.

  17. Quality of life and cochlear implantation in Usher syndrome type I.

    NARCIS (Netherlands)

    Damen, G.W.J.A.; Pennings, R.J.E.; Snik, A.F.M.; Mylanus, E.A.M.

    2006-01-01

    OBJECTIVES: The objectives of this descriptive, retrospective study were to evaluate quality of life, hearing, and vision in patients with Usher syndrome type I with and without cochlear implant. METHODS: Quality of life (QoL) of 14 patients with Usher type I (USH1) with a cochlear implant (CI)

  18. Experience of the diagnosis and observation of a child with wolf-hirschhorn syndrome

    Directory of Open Access Journals (Sweden)

    L.V. Besh

    2017-02-01

    Full Text Available Modern data about the causes, course peculiarities, principles of diagnosis and symptomatic treatment of Wolf-Hirshhorn syndrome are given in the article. The description of own clinical case is presented. In most cases, there are multiple developmental abnormalities, in particular heart and kidney defects. External symptoms include: the unusual structure of the skull (“ancient warrior’s helmet”, straight bridge of the nose, moderately severe microcephaly, hypertelorism, small mouth with drooping corners, abnormal auricle’s forms, also cleft lip and cleft palate, eyeballs anomalies, hypospadias, feet deformity. Hemangiomas of the skin are often presented, they are usually flat, small and located on the face. Muscle hypotonia, significantly reduced reaction to external stimuli are revealed during the examination. The diagnosis is based on clinical changes and is confirmed by the DNA research. Deletion of the short arm of chromosome 4 is detected in approximately 80 % of probands. The description of own clinical observation of a child with Wolf-Hirshhorn syndrome, confirmed at the age of 3 months, is presented. Despite the early detection of the syndrome and prescribed appropriate therapy, the disease has a poor prognosis.

  19. Promouvoir des politiques et approches inclusives pour résoudre le ...

    International Development Research Centre (IDRC) Digital Library (Canada)

    En se concentrant sur la violence criminelle et des gangs à Cape Town, l'étude fera la lumière sur l'ampleur de la participation des jeunes à ces réseaux de violence, selon les perspectives des jeunes hommes et des jeunes femmes. Le projet examinera comment les réseaux sociaux et économiques se forment et peuvent ...

  20. Cotard Syndrome.

    Science.gov (United States)

    Dieguez, Sebastian

    2018-01-01

    Cotard's syndrome is often described as the delusional belief that one is dead or non-existent. However, Jules Cotard's initial description (1880) of the "delusion of negations" was much richer and also involved delusions and claims of immortality and enormity, feelings of damnation, and illusions of bodily dissolution and transformation. Alternatively conceived as an extreme case of depression, hypochondria, or psychosis, the condition is considered rare and remains poorly understood. Cotard himself provided a taxonomy and several explanations for the condition, focusing on its distinction from classical persecutory delusions and suggesting that it could be a kind of reversed grandiosity. He proposed a psychosensory basis in the dissolution of mental imagery, which he then extended to a more general psychomotor impairment of volition. Other early authors highlighted a disorder of the bodily self, and more recent theories postulated an impairment of right hemispheric functions, leading to perceptual and somatosensory feelings of unreality, which coupled with reasoning impairments and an internalized attributional style led in turn to beliefs of non-existence. However, despite its striking presentation and its relevance to our understanding of self-awareness, Cotard's syndrome remains an elusive condition, rarely reported and poorly researched. © 2018 S. Karger AG, Basel.

  1. Molecular subtype classification of urothelial carcinoma in Lynch syndrome.

    Science.gov (United States)

    Therkildsen, Christina; Eriksson, Pontus; Höglund, Mattias; Jönsson, Mats; Sjödahl, Gottfrid; Nilbert, Mef; Liedberg, Fredrik

    2018-05-23

    Lynch syndrome confers an increased risk for urothelial carcinoma (UC). Molecular subtypes may be relevant to prognosis and therapeutic possibilities, but have to date not been defined in Lynch syndrome-associated urothelial cancer. We aimed to provide a molecular description of Lynch syndrome-associated UC. Thus, Lynch syndrome-associated UC of the upper urinary tract and the urinary bladder were identified in the Danish hereditary non-polyposis colorectal cancer (HNPCC) register and were transcriptionally and immunohistochemically profiled and further related to data from 307 sporadic urothelial carcinomas. Whole genome mRNA expression profiles of 41 tumors and immunohistochemical stainings against FGFR3, KRT5, CCNB1, RB1, and CDKN2A (p16) of 37 tumors from Lynch syndrome patients were generated. Pathological data, microsatellite instability, anatomic location, and overall survival data was analyzed and compared with sporadic bladder cancer. The 41 Lynch syndrome-associated UC developed at a mean age of 61 years with 59% women. mRNA expression profiling and immunostaining classified the majority of the Lynch syndrome-associated UC as Urothelial-like tumors with only 20% being Genomically Unstable, Basal/SCC-like or other subtypes. The subtypes were associated with stage, grade, and microsatellite instability. Comparison to larger data sets revealed that Lynch syndrome-associated UC share molecular similarities with sporadic UC. In conclusion, transcriptomic and immunohistochemical profiling identifies a predominance of the Urothelial-like molecular subtype in Lynch syndrome and reveals that the molecular subtypes of sporadic bladder cancer are relevant also within this hereditary, mismatch-repair defective subset. This article is protected by copyright. All rights reserved. Molecular Oncology (2018) © 2018 The Authors. Published by FEBS Press and John Wiley & Sons Ltd.

  2. Waardenburg syndrome type 3 (Klein-Waardenburg syndrome) segregating with a heterozygous deletion in the paired box domain of PAX3: a simple variant or a true syndrome?

    Science.gov (United States)

    Tekin, M; Bodurtha, J N; Nance, W E; Pandya, A

    2001-10-01

    Klein-Waardenburg syndrome or Waardenburg syndrome type 3 (WS-III; MIM 148820) is characterized by the presence of musculoskeletal abnormalities in association with clinical features of Waardenburg syndrome type 1 (WS-I). Since the description of the first patient in 1947 (D. Klein, Arch Klaus Stift Vererb Forsch 1947: 22: 336-342), a few cases have been reported. Only occasional families have demonstrated autosomal-dominant inheritance of WS-III. In a previous report, a missense mutation in the paired domain of the PAX3 gene has been described in a family with dominant segregation of WS-III. In this report, we present a second family (mother and son) with typical clinical findings of WS-III segregating with a heterozygous 13-bp deletion in the paired domain of the PAX3 gene. Although homozygosity or compound heterozygosity has also been documented in patients with severe limb involvement, a consistent genotype-phenotype correlation for limb abnormalities associated with heterozygous PAX3 mutations has not previously been apparent. Heterozygous mutations could either reflect a unique dominant-negative effect or possibly the contribution of other unlinked genetic modifiers in determining the phenotype.

  3. Familial occurrence of cerebral gigantism, Sotos' syndrome.

    Science.gov (United States)

    Hansen, F J; Friis, B

    1976-05-01

    Since the original description of cerebral gigantism, about 85 cases have been reported. Four papers comment on familial occurrence but never in parents and their children. This paper describes the syndrome in a mother and her child, which, together with facts pointing towards prenatal etiology, such as excessive birthweight, striking mutual resemblance and abnormal dermatoglyphics, points to a genetic defect. Previous endocrine studies are enlarged by the findings of normal serum somatomedin and serum prolactin.

  4. Application of the transtheoretical model: exercise behavior in Korean adults with metabolic syndrome.

    Science.gov (United States)

    Kim, Chun-Ja; Kim, Bom-Taeck; Chae, Sun-Mi

    2010-01-01

    Although regular exercise has been recommended to reduce the risk of cardiovascular disease (CVD) among people with metabolic syndrome, little information is available about psychobehavioral strategies in this population. The purpose of this study was to identify the stages, processes of change, decisional balance, and self-efficacy of exercise behavior and to determine the significant predictors explaining regular exercise behavior in adults with metabolic syndrome. This descriptive, cross-sectional survey design enrolled a convenience sample of 210 people with metabolic syndrome at a university hospital in South Korea. Descriptive statistics were used to analyze demographic characteristics, metabolic syndrome risk factors, and transtheoretical model-related variables. A multivariate logistic regression analysis was used to determine the most important predictors of regular exercise stages. Action and maintenance stages comprised 51.9% of regular exercise stages, whereas 48.1% of non-regular exercise stages were precontemplation, contemplation, and preparation stages. Adults with regular exercise stages displayed increased high-density lipoprotein cholesterol level, were more likely to use consciousness raising, self-reevaluation, and self-liberation strategies, and were less likely to evaluate the merits/disadvantages of exercise, compared with those in non-regular exercise stages. In this study of regular exercise behavior and transtheoretical model-related variables, consciousness raising, self-reevaluation, and self-liberation were associated with a positive effect on regular exercise behavior in adults with metabolic syndrome. Our findings could be used to develop strategies and interventions to maintain regular exercise behavior directed at Korean adults with metabolic syndrome to reduce CVD risk. Further prospective intervention studies are needed to investigate the effect of regular exercise program on the prevention and/or reduction of CVD risk among this

  5. Kidney involvement in MELAS syndrome: Description of 2 cases.

    Science.gov (United States)

    Alcubilla-Prats, Pau; Solé, Manel; Botey, Albert; Grau, Josep Maria; Garrabou, Glòria; Poch, Esteban

    2017-04-21

    MELAS syndrome -myopathy, encephalopathy, lactic acidosis and stroke-like episodes- is a maternally-inherited mitochondrial cytopathy related to several mitochondrial DNA mutations, with the A3243G mutation in tRNA Leu gene being the most frequent of them. Apart from its typical symptomatology, patients usually exhibit a maternally-inherited history of neurosensory deafness and insulin-dependent type 2 diabetes mellitus (T2DM). Recent studies have shown that few patients carrying a A3243G mutation also suffer from renal dysfunction, usually in form of focal segmental glomerulosclerosis (FSGS). In this study we examine kidney involvement in 2 unrelated patients with a A3243G mutation by genetic testing. Both have a maternally-inherited neurosensory deafness and insulin-dependent T2DM. A renal biopsy was performed in both patients. One patient developed nephrotic proteinuria and renal insufficiency, with FSGS findings being observed in the kidney biopsy, whereas the other suffered from mild proteinuria and renal insufficiency, with non-specific glomerular changes. The presence of FSGS or other kidney involvement accompanied by hereditary neurosensory deafness and T2DM could be suggestive of a A3243G tRNA Leu mutation and should prompt a genetic testing and an evaluation of potential extrarenal involvement. Copyright © 2017 Elsevier España, S.L.U. All rights reserved.

  6. Modifiable Lifestyle Behaviors Are Associated With Metabolic Syndrome in a Taiwanese Population.

    Science.gov (United States)

    Lin, Kuei-Man; Chiou, Jeng-Yuan; Ko, Shu-Hua; Tan, Jung-Ying; Huang, Chien-Ning; Liao, Wen-Chun

    2015-11-01

    To explore associations between metabolic syndrome and modifiable lifestyle behaviors among the adult population in Taiwan. This cross-sectional study analyzed data from a nationally representative sample that participated in the 2005-2008 Nutrition and Health Survey in Taiwan. The sample (2,337 participants older than 19 years) provided data on demographic characteristics, modifiable lifestyle behaviors, anthropometric measurements, and blood chemistry panel. These data were analyzed by descriptive statistics, univariate logistic regression, and multivariate logistic regression to determine factors associated with metabolic syndrome. Metabolic syndrome had a prevalence of 25.2%, and this prevalence increased with age. In univariate regression analysis, metabolic syndrome was associated with age, living with family members, educational level, and modifiable lifestyle behaviors (smoking, drinking, betel quid chewing, and physical activity). Individuals with a smoking history and currently chewing betel quid had the highest risk for metabolic syndrome. The risk for metabolic syndrome might be reduced by public health campaigns to encourage people to quit smoking cigarettes and chewing betel quid. Implementing more modifiable lifestyle behaviors in daily life will decrease metabolic syndrome in Taiwan. Considering that betel quid chewing and tobacco smoking interact to adversely affect metabolic syndrome risk, public health campaigns against both behaviors seem to be a cost-effective and efficient health promotion strategy to reduce the prevalence rate of metabolic syndrome. © 2015 Sigma Theta Tau International.

  7. Micrococcus sedentarius bacteraemia presenting with haemophagocytic syndrome in previously healthy boy.

    Science.gov (United States)

    Kuskonmaz, Baris; Kara, Ates; Ozen, Maide; Cengiz, A Bülent; Ozen, Metehan; Seçmeer, Gülten; Gürgey, Aytemiz

    2006-01-01

    Haemophagocytic syndromes are the clinical manifestation of an increased macrophagic activity with haemophagocytosis. Infection-associated HS was originally described by Risdall in 1979, in viral disease. Since the initial description HS has also been documented in patients with bacterial, parasitic or fungal infections. We describe a case of Micrococcus sedentarius bacteraemia in a previously healthy 10-y-old boy with haemophagocytic syndrome. Species of micrococci are generally considered as non-pathogenic commensals that colonize the skin, mucosae and oropharynx. We report the first case of Microccoccus sedentarius bacteraemia in an immunocompetent host and first case of HS associated with Micrococcus species.

  8. Hyperfunctioning metastatic follicular thyroid carcinoma in Pendred's syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Abs, R.; Verhelst, J.; Schoofs, E.; De Somer, E. (University Hospital, Antwerp (Belgium))

    1991-04-15

    A 66-year-old woman with Pendred's syndrome underwent a partial thyroidectomy when she was 17 years old. At the age of 52 years, she had a second thyroid operation because of hyperthyroidism due to a toxic multinodular goiter with a mediastinal extension consisting of several separate nodules. Five years later a hyperfunctioning metastatic follicular carcinoma was diagnosed histologically. After treatment with radioactive iodine, the patient was well. To the authors' knowledge, this is the first description of a metastatic follicular thyroid carcinoma in Pendred's syndrome and the first report of hyperthyroidism occurring after malignant degeneration of a dyshormonogenetic goiter.

  9. Simultaneous Combined Myositis, Inflammatory Polyneuropathy, and Overlap Myasthenic Syndrome

    Directory of Open Access Journals (Sweden)

    Stéphane Mathis

    2016-01-01

    Full Text Available Immune-mediated neuromuscular disorders include pathologies of the peripheral nervous system, neuromuscular junction, and muscles. If overlap syndromes (or the association of almost two autoimmune disorders are recognized, the simultaneous occurrence of several autoimmune neuromuscular disorders is rare. We describe two patients presenting the simultaneous occurrence of inflammatory neuropathy, myositis, and myasthenia gravis (with positive acetylcholine receptor antibodies. For each patient, we carried out a pathological analysis (nerve and muscle and an electrophysiological study (and follow-up. To our knowledge, this is the first description of such a triple immune-mediated neuromuscular syndrome. We compared our observations with a few other cases of simultaneous diagnosis of two inflammatory neuromuscular disorders.

  10. SIG POSTER

    International Development Research Centre (IDRC) Digital Library (Canada)

    des jeunes. Tanzaniens sont sans emploi. 7 enfants sur 10qui entament leur. 3e année du primaire ne savent pas lire le swahili, la langue nationale. Seul 1 enfant sur 5 arrive à faire des mathématiques de base. Les jeunes citadins sont presque 5 fois plus susceptibles de détenir un diplôme universitaire que les jeunes.

  11. Culture-bound syndromes in Hispanic primary care patients.

    Science.gov (United States)

    Bayles, Bryan P; Katerndahl, David A

    2009-01-01

    We sought to document Hispanic primary care patients' knowledge and experience of five culture-bound syndromes (CBS), as well as the basic socio-cultural correlates of these disorders. A convenience sample of 100 adult Hispanic patients presenting in an urban South Texas primary care clinic was recruited to complete a brief cross-sectional survey, presented in an oral format. Interviews sought information concerning five culture-bound syndromes--susto, empacho, nervios, mal de ojo, and ataques de nervios. Additional demographic, socio-economic, and acculturation data was collected. Descriptive and bivariate statistics (chi square, Fisher's) were used to assess relationships among variables and experience with each CBS. A multivariate logistic analysis was conducted to determine the possible contributions of age, gender, acculturation, and education to the personal experience of a culture-bound syndrome. Results indicate that 77% of respondents had knowledge of all five syndromes, with 42% reporting having personally experienced at least one CBS. Nervios was the most commonly suffered disorder, being reported by 30 respondents. This was followed, in declining order ofprevalence, by susto, mal de ojo, empacho, and ataques de nervios. Multivariate logistic regression analysis found that higher education beyond high school was associated with a slightly decreased likelihood of reporting having suffered from any culture-bound syndrome. While co-occurrence among these disorders occurred, the patterns of predictors suggest that the co-occurrence is not a reflection of mislabeling of one common syndrome. Knowledge of and experience with culture-bound syndromes is common among Hispanic primary care patients in South Texas. Healthcare providers ought to consider discussing these illnesses in a non-judgmental manner with patients who present with symptoms that are consistent with these syndromes. Future studies, with larger sample sizes, are warranted to elucidate the nature

  12. La culture numérique des jeunes professeurs des écoles peut-elle permettre de réduire l’écart entre natifs et immigrants du numérique?

    Directory of Open Access Journals (Sweden)

    Françoise Poyet

    2014-01-01

    Full Text Available Le décalage entre les pratiques numériques des élè- ves et celles de leurs professeurs est important et semble s’accentuer : les pratiques des jeunes ten- dent à être ludiques et communicationnelles, tandis que celles des enseignants reposent sur des com- pétences globales techniques (Baron et Bruillard, 2001. Nos résultats tendent à montrer qu’en Fran- ce de futurs professeurs des écoles ont, à l’instar de leurs futurs élèves, des pratiques personnelles construites à partir de connaissances primaires liées à leur adaptation à un environnement riche en tech- nologies numériques dans l’enfance. Mais à la dif- férence de leurs élèves, nous verrons que ces futurs professeurs ont également développé d’autres for- mes de pratiques et une culture numérique faisant appel à des connaissances secondaires.

  13. Prevalence of dry eye syndrome in residents of surgical specialties.

    Science.gov (United States)

    Castellanos-González, José Alberto; Torres-Martínez, Verónica; Martínez-Ruiz, Adriana; Fuentes-Orozco, Clotilde; Rendón-Félix, Jorge; Irusteta-Jiménez, Leire; Márquez-Valdez, Aída Rebeca; Cortés-Lares, José Antonio; González-Ojeda, Alejandro

    2016-07-16

    The aim of this study was to determine the prevalence and severity of dry eye syndrome in a group of Mexican residents of different surgical specialties. A cross-sectional descriptive study where the residents were studied using the Ocular Surface Disease Index, together with diagnostic tests for dry eye syndrome, such as tear breakup time, Oxford Schema, Schirmer's test I, and meibomian gland dysfunction testing. Statistical analyses were performed by Pearson's chi-squared test for categorical variables and student's t-test for quantitative variables. Any P value eyes); 90 (73 %) were male and 33 (27 %) were female. The mean age was 27.8 ± 2.1 years. A higher number of residents with dry eye syndrome was found in the cardiothoracic surgery (75 %) and otorhinolaryngology (71 %) specialties; 70 % of them reported ocular symptoms, with teardrop quality involvement in >50 % of them. We found a prevalence of 56 % for mild-to-moderate/severe stages of the condition. Their presence in the operating room predisposes surgical residents to dry eye syndrome because of environmental conditions.

  14. Adams Oliver syndrome: Description of a new phenotype with cerebellar abnormalities in a family

    International Nuclear Information System (INIS)

    D’Amico, Alessandra; Melis, Daniela; D’Arco, Felice; Di Paolo, Nilde; Carotenuto, Barbara; D’Anna, Gennaro; Russo, Carmela; Boemio, Pasquale; Brunetti, Arturo

    2013-01-01

    To describe cerebellar abnormalities in a family composed by a father and two affected sibs with Adams Oliver syndrome (AOS) (OMIM 100300). Brain MRI and MR angiography were performed at 1.5T. The siblings presented cerebellar cortex dysplasia characterized by the presence of cysts. Abnormalities of CNS are an unusual manifestation of AOS. To our knowledge, this is the first report of cerebellar cortical dysplasia in a family with AOS

  15. Comprendre l'expérience de lecteurs désengagés lors d'un projet de cercle de lecture au sein d'une équipe de hockey de jeunes garçons au Canada

    Directory of Open Access Journals (Sweden)

    Jolicoeur Manon

    2015-01-01

    Full Text Available Cette recherche collaborative réunissant un entraineur de hockey et une chercheuse vise à décrire l'impact de l'expérimentation d'un dispositif de cercle de lecture auprès d'une équipe de jeunes garçons francophones de 9 et 10 ans du Nouveau-Brunswick (Canada. L'étude se penche particulièrement sur le vécu de trois lecteurs désengagés participant au projet. L'analyse qualitative des données recueillies par entrevues, questionnaires et observations démontre que la motivation a été soutenue et généralisée durant toute la tenue du cercle de lecture et que les lecteurs désengagés ont évolué vers l'engagement.

  16. Prevalence of metabolic syndrome in scholars from Bucaramanga, Colombia: a population-based study

    Directory of Open Access Journals (Sweden)

    Camacho Paul A

    2009-04-01

    Full Text Available Abstract Background Obesity and metabolic syndrome are strongly associated with type 2 diabetes mellitus and cardiovascular diseases, thus the increasing trend in their prevalence among children and adolescents from developing countries requires a further understanding of their epidemiology and determinants. Methods and design A cross-sectional study was designed to determine the prevalence of metabolic syndrome among 6–10 year-old children from Bucaramanga, Colombia. A two-stage random-cluster (neighborhoods, houses sampling process was performed based on local city maps and local statistics. The study involves a domiciliary survey; including a comprehensive socio-demographic, nutritional and physical activity characterization of the children that participated in the study, followed by a complete clinical examination; including blood pressure, anthropometry, lipid profile determination, fasting glucose and insulin levels. The prevalence of metabolic syndrome will be determined using definitions and specific percentile cut-off points for this population. Finally, the association between components of metabolic syndrome and higher degrees of insulin resistance will be analyzed through a multivariable logistic regression model. This study protocol was designed in compliance with the Helsinki declaration and approved by the local ethics board. Consent was obtained from the children and their parents/guardians. Discussion A complete description of the environmental and non-environmental factors underlying the burden of metabolic syndrome in children from a developing country like Colombia will provide policy makers, health care providers and educators from similar settings with an opportunity to guide primary and secondary preventive initiatives at both individual and community levels. Moreover, this description may give an insight into the pathophysiological mechanisms mediating the development of cardio-metabolic diseases early in life.

  17. History of Nephrotic Syndrome and Evolution of its Treatment

    Directory of Open Access Journals (Sweden)

    Abhijeet ePal

    2016-05-01

    Full Text Available The recognition, evaluation, and early treatment of nephrotic syndrome in infants and children originates from physicians dating back to Hippocrates. It took nearly another thousand years before the condition was described for its massive edema requiring treatment with herbs and other remedies. A rich history of observations and interpretations followed over the course of centuries until the recognition of the combination of clinical findings of foamy urine, swelling of the body, and measurements of urinary protein and blood analyses showed the phenotypic characteristics of the syndrome that were eventually linked to the early anatomic descriptions from first kidney autopsies and then renal biopsy analyses. Coincident with these findings were a series of treatment modalities involving the use of natural compounds to a host of immunosuppressive agents that are applied today. With the advent of molecular and precision medicine, the field is poised to make major advances in our understanding and effective treatment of nephrotic syndrome and prevent its long-term sequelae.

  18. Wernicke–Korsakoff syndrome

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    Yu. P. Sivolap

    2014-01-01

    Full Text Available Wernicke’s encephalopathy and Korsakoff’s psychosis are the acute and chronic phases of Wernicke–Korsakov syndrome, a neurodegenerative process that is caused by thiamine deficiency and predominantly develops in persons with severe alcohol problems. In accordance with classical descriptions, Wernicke’s encephalopathy is manifested by a triad of the following major symptoms: ophthalmoplegia (or nystagmus, ataxia, and clouding of consciousness. The predominance of the subtle forms of Wernicke’s encephalopathy, which hinders its timely recognition and treatment, presents a serious problem. When left untreated, Wernicke’s encephalopathy is characterized by a high risk for a fatal outcomeand transition from acute reversible disorders to chronic irreversible cerebral structural changes associated with the occurrence of memory consolidation. The main manifestation of Korsakoff’s syndrome is the absence of or significant reduction in the ability to store new information with the relative preservation of other psychic functions. Effective care for patients with Wernicke’s encephalopathy and prevention of Korsakoff’s psychosis require that high-dose thiamine should be administered parenterally in good time. Alpha-lipoic acid along with thiamine is used in the treatment of polyneuropathy accompanied by Wernicke–Korsakoff syndrome. Untreated Wernicke’s encephalopathy is considered to lead to Korsakoff’s psychosis in above 80% of cases and to death in almost 15–20%. There is complete recovery from Korsakoff’s psychosis in approximately 20% of cases; with the lapse of time there may be a significant recovery of cognitive functions in 25% of cases.

  19. [Burnout syndrome in elderly care takers working in social care homes].

    Science.gov (United States)

    González-Losa, María Del Refugio; Vázquez-García, Carlos; Esperón, Ramón

    2013-01-01

    To identify the presence and characteristics of Burnout syndrome in subjects dedicated to the care of older adults in homes for seniors. A descriptive study was done, 46 workers of 10 homes in Mérida, Yucatán, were included. Subjects older than 18 years and who have direct interaction with adults were included. To evaluate the presence of Burnout syndrome the Spanish version of the Maslach Burnout Inventory was used. Sixty-five percent of the population studied was female and 35% male, the average age was 38 years, with a range of 19-60 years. 87% of the studied population had some level of Burnout syndrome. In 60% of homes all the workers were affected. Regard gender 90% of the women has some grade of Burnout syndrome and 81% of males. Respect areas affected, 30% had emotional exhaustion, 46% depersonalization and 95% lack of realization. According the number of affected areas 45% were affected in one area, 30% in two and 25% in three, the latter representing 22% of the study population. There is a high frequency of Burnout syndrome among subjects who are dedicated to caring for the elderly. Personal accomplishment was the most affected area. Subjects with lowest salary present higher frequency of Burnout syndrome.

  20. Résultats de recherche | Page 41 | CRDI - Centre de recherches ...

    International Development Research Centre (IDRC) Digital Library (Canada)

    Le CRDI et Fundación Capital lance un outil numérique pour autonomiser la jeunesse colombienne. En Colombie 4,5 des 13 millions de jeunes ne travaillent pas et ne vont pas à l'école. Les jeunes représentent plus de la moitié des Colombiens sans emploi déclarés et la plupart des jeunes qui travaillent ont un emploi ...

  1. Longterm visual prognosis in Usher syndrome types 1 and 2.

    Science.gov (United States)

    Sadeghi, André M; Eriksson, Kristina; Kimberling, William J; Sjöström, Anders; Möller, Claes

    2006-08-01

    To estimate the age at diagnosis of retinitis pigmentosa and to determine visual acuity deterioration, visual field impairment and the frequency of cataracts in Usher syndrome types 1 and 2. We carried out a retrospective study of 328 affected subjects with Usher syndrome types 1 and 2. Study subjects were divided into seven different age groups by decade. Data were analysed using descriptive statistics, general linear model anova and survival analysis. Retinitis pigmentosa was diagnosed significantly earlier in subjects with Usher syndrome type 1 than in those with type 2. Visual acuity was significantly more impaired in affected subjects with Usher syndrome type 1 than in those with type 2 from 50 years of age onwards. Survival analysis revealed a significant difference in visual field loss (type 2 subjects tending to be more impaired, while comparison indicated no significant differences between the groups in any of the other visual field categories. Cataract was found to be generally more common in Usher syndrome type 1 than type 2. Progressive loss of visual acuity and visual field begins to be substantial between the second and third decades of life in both Usher types. The rate of degeneration varies between individuals in both groups. The data are useful for the counselling of affected subjects with Usher syndrome types 1 and 2.

  2. Natural history of the classical form of primary growth hormone (GH) resistance (Laron syndrome).

    Science.gov (United States)

    Laron, Z

    1999-04-01

    A description of the clinical, biochemical and endocrinological features of the classical form of the syndrome of primary growth hormone (GH) resistance (Laron syndrome) is presented including the progressive changes during follow-up from infancy into adulthood. The main diagnostic features are: severe growth retardation, acromicria, small gonads and genitalia, and obesity. Serum GH levels are elevated and insulin-like growth factor-I (IGF-I) values are low and do not rise upon stimulation by exogenous hGH. The pathogenesis of this syndrome is due to various molecular defects from exon deletion to nonsense, frameshift, splice and missense mutations in the GH receptor (GH-R) gene or in its post-receptor pathways.

  3. Chronic pain in hypermobility syndrome and Ehlers-Danlos syndrome (hypermobility type): it is a challenge.

    Science.gov (United States)

    Scheper, Mark C; de Vries, Janneke E; Verbunt, Jeanine; Engelbert, Raoul Hh

    2015-01-01

    Generalized joint hypermobility (GJH) is highly prevalent among patients diagnosed with chronic pain. When GJH is accompanied by pain in ≥4 joints over a period ≥3 months in the absence of other conditions that cause chronic pain, the hypermobility syndrome (HMS) may be diagnosed. In addition, GJH is also a clinical sign that is frequently present in hereditary diseases of the connective tissue, such as the Marfan syndrome, osteogenesis imperfecta, and the Ehlers-Danlos syndrome. However, within the Ehlers-Danlos spectrum, a similar subcategory of patients having similar clinical features as HMS but lacking a specific genetic profile was identified: Ehlers-Danlos syndrome hypermobility type (EDS-HT). Researchers and clinicians have struggled for decades with the highly diverse clinical presentation within the HMS and EDS-HT phenotypes (Challenge 1) and the lack of understanding of the pathological mechanisms that underlie the development of pain and its persistence (Challenge 2). In addition, within the HMS/EDS-HT phenotype, there is a high prevalence of psychosocial factors, which again presents a difficult issue that needs to be addressed (Challenge 3). Despite recent scientific advances, many obstacles for clinical care and research still remain. To gain further insight into the phenotype of HMS/EDS-HT and its mechanisms, clearer descriptions of these populations should be made available. Future research and clinical care should revise and create consensus on the diagnostic criteria for HMS/EDS-HT (Solution 1), account for clinical heterogeneity by the classification of subtypes within the HMS/EDS-HT spectrum (Solution 2), and create a clinical core set (Solution 3).

  4. STATUS GIZI DAN STATUS IODIUM PADA BALITA DENGAN SUSPECT DOWN SYNDROME

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    Hastin Dyah K.

    2012-10-01

    Full Text Available Background: Nutritional status is one of the factor that determines the human resources and quality of life. Toddlers are one of vulnerable groups for nutritional problems. One of the nutrition problem in Indonesia is Iodine deficiency disorder. Clinical manifestations are not only endemic goiter and cretins, but also abortion, stillbirth, and congenital abnormalities. Congenital abnormalities are commonly found in areas ofendemic iodine deficiency disorder such as Down Syndrome. Objectives: This study aims to determine the iodine nutrition status of children under jive with Down Syndrome Suspect in endemic areas ofiodine deficiency disorder. Method: This research is descriptive study with cross sectional design. The study was conducted in Magelang district, which is endemic iodine deficiency disorder. Total sample of30 under jive years old with Down Syndrome Suspect. Result: The result showed that the nutritional status of respondents based on the weight/age index was 50% had good nutritional status. According to height/age index as much as 70% are short and very short. Based on weight/height index was 73,3% with normal nutritional status. At least 33% of children with Down Syndrome Suspect accompanied hypothyroidism.  Keywords: Suspect Down Syndrome, Nutritional Status, Iodine Status

  5. The Educational and Psychological Interventions for Children and Adolescents with Marfan Syndrome.

    Science.gov (United States)

    Stebbins, Molly S.; McIntosh, David E.

    Marfan's syndrome is an autosomal dominant chromosomal disorder of connective tissue which may cause major abnormalities in the musculoskeletal, ocular (pertaining to the eye), and cardiovascular systems of the body. A description of this disorder is presented in this paper. It affects approximately .03 to .05% of the population; approximately…

  6. Craniofacial abnormalities among patients with Edwards Syndrome

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    Rafael Fabiano M. Rosa

    2013-09-01

    Full Text Available OBJECTIVE To determine the frequency and types of craniofacial abnormalities observed in patients with trisomy 18 or Edwards syndrome (ES. METHODS This descriptive and retrospective study of a case series included all patients diagnosed with ES in a Clinical Genetics Service of a reference hospital in Southern Brazil from 1975 to 2008. The results of the karyotypic analysis, along with clinical data, were collected from medical records. RESULTS: The sample consisted of 50 patients, of which 66% were female. The median age at first evaluation was 14 days. Regarding the karyotypes, full trisomy of chromosome 18 was the main alteration (90%. Mosaicism was observed in 10%. The main craniofacial abnormalities were: microretrognathia (76%, abnormalities of the ear helix/dysplastic ears (70%, prominent occiput (52%, posteriorly rotated (46% and low set ears (44%, and short palpebral fissures/blepharophimosis (46%. Other uncommon - but relevant - abnormalities included: microtia (18%, orofacial clefts (12%, preauricular tags (10%, facial palsy (4%, encephalocele (4%, absence of external auditory canal (2% and asymmetric face (2%. One patient had an initial suspicion of oculo-auriculo-vertebral spectrum (OAVS or Goldenhar syndrome. CONCLUSIONS: Despite the literature description of a characteristic clinical presentation for ES, craniofacial alterations may be variable among these patients. The OAVS findings in this sample are noteworthy. The association of ES with OAVS has been reported once in the literature.

  7. Children with Down Syndrome: Life Stories of Parents

    Directory of Open Access Journals (Sweden)

    Maritza Esquivel-Herrera

    2015-01-01

    Full Text Available This paper is based on the premise that early stimulation is the appropriate program to start the integral care and education of newborns with Down Syndrome, with the primary objective being to optimize their cognitive, physical and socio-emotional capabilities. For this purpose, a naturalist paradigm and a descriptive case type approach were used, mainly with qualitative data related to the life stories of parents with Down Syndrome children. Parents (9 mothers and one father participated voluntarily in the research project. One of the instruments used was the compilation of life histories, which were collected though interviews to parents and were systematized in the form of chronicles.  Another instrument was phrases or sentences to fill in the blanks, which were used to know the deepest impressions experienced by parents before and after the birth of their Down Syndrome child.  This paper is intended to provide support to those who experience daily situations similar to the ones mentioned here and, particularly to impact on the time management in the integral development of children with this condition.

  8. Weight loss experiences of obese perimenopausal women with metabolic syndrome.

    Science.gov (United States)

    Su, Mei-Chen; Lin, Hung-Ru; Chu, Nain-Feng; Huang, Chih-Hsung; Tsao, Lee-Ing

    2015-07-01

    To develop a descriptive theory for the weight loss experiences of obese perimenopausal women with metabolic syndrome. Obesity and metabolic syndrome both pose a threat to the health of perimenopausal women; therefore, understanding perimenopausal women's subjective feelings and experiences is beneficial to establishing effective prevention strategies. However, studies have rarely explored these relevant experiences. A qualitative study using the grounded theory method to establish a descriptive theory. Eighteen obese perimenopausal women with metabolic syndrome aged 45-60 years participated in comprehensive interviews. 'Crossing the gaps to making life modifications' was the core category, and 'the awareness of weight gain and health alarm' was the antecedent condition. In the weight loss experience, the following three interaction categories were identified: (1) 'experiencing bad feelings,' (2) 'encountering obstacles' and (3) 'making efforts to transition to a new life.' Some women adhered to new life habits through perceiving social support and by using self-incentives. Finally, women enjoyed and mastered self-monitoring of their health in their new life, and practiced new changes as part of their life. However, some participants felt that making changes to their life was too time-consuming. Therefore, these women chose to live with their abnormal health without making changes. Obese perimenopausal women with metabolic syndrome experienced various gaps in their weight loss process. Although they struggled with many obstacles, these women were able to learn from their experiences and face their health challenges. These findings can guide healthcare professionals to provide appropriate interventions to understand the hidden health problems of this particular group of women. Healthcare professionals should develop a set of plans by which women receive a complete weight loss program and support from professionals and family. © 2015 John Wiley & Sons Ltd.

  9. Advances in the Behavior Analytic Treatment of Trichotillomania and Tourette's Syndrome

    Science.gov (United States)

    Himle, Michael B.; Flessner, Christopher A.; Woods, Douglas W.

    2004-01-01

    Tourette's Syndrome (TS) and Trichotillomania (TTM) are both subsumed under a larger category of repetitive behavior disorders. The purpose of this paper is to provide an overview of the most recent behavioral research on TS and TTM. A description of both disorders is provided along with the most recent research on their etiology and maintenance.…

  10. Cerebellar Cognitive Affective Syndrome Presented as Severe Borderline Personality Disorder

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    Danilo Pesic

    2014-01-01

    Full Text Available An increasing number of findings confirm the significance of cerebellum in affecting regulation and early learning. Most consistent findings refer to association of congenital vermis anomalies with deficits in nonmotor functions of cerebellum. In this paper we presented a young woman who was treated since sixteen years of age for polysubstance abuse, affective instability, and self-harming who was later diagnosed with borderline personality disorder. Since the neurological and neuropsychological reports pointed to signs of cerebellar dysfunction and dysexecutive syndrome, we performed magnetic resonance imaging of brain which demonstrated partially developed vermis and rhombencephalosynapsis. These findings match the description of cerebellar cognitive affective syndrome and show an overlap with clinical manifestations of borderline personality disorder.

  11. Greater trochanter pain syndrome: A descriptive MR imaging study

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    Klontzas, Michail E., E-mail: miklontzas@gmail.com; Karantanas, Apostolos H., E-mail: akarantanas@gmail.com

    2014-10-15

    Objective: Greater trochanter pain syndrome (GTPS) is a diverse clinical entity caused by a variety of underlying conditions. We sought to explore the impact of (1) hip morphology, namely the center-edge angle (CEa) and femoral neck-shaft (NSa) angle, (2) hip abductor tendon degeneration, (3) the dimensions of peritrochanteric edema and (4) bursitis, on the presence of GTPS, using MR imaging. Materials and methods: The presence of pain was prospectively assessed blindly by the senior author. CEa and NSa were blindly measured in 174 hip MR examinations, after completion of the clinical evaluation by another evaluator. The existence and dimensions of T2 hyperintensity of the peritrochanteric soft tissues, the existence and dimensions of bursae, as well as degeneration and tearing of gluteus tendons were also recorded. Results: Out of 174 examinations, 91 displayed peritrochanteric edema (group A) and 34 bursitis, all with peritrochanteric edema (group B). A number of 78 patients from both A and B groups, showed gluteus medius tendon degeneration and one tendon tear. CEa of groups A and B were 6° higher than those of normals (group C, P = 0.0038). The mean age of normals was 16.6 years less than in group A and 19.8 years less than in group B (P < 0.0001). Bursitis was associated with pain with a negative predictive value of 97% (P = 0.0003). Conclusion: Acetabular morphology is associated with GTPS and the absence of bursitis was proved to be clinically relevant. Peritrochanteric edema alone was not associated with local pain.

  12. Greater trochanter pain syndrome: A descriptive MR imaging study

    International Nuclear Information System (INIS)

    Klontzas, Michail E.; Karantanas, Apostolos H.

    2014-01-01

    Objective: Greater trochanter pain syndrome (GTPS) is a diverse clinical entity caused by a variety of underlying conditions. We sought to explore the impact of (1) hip morphology, namely the center-edge angle (CEa) and femoral neck-shaft (NSa) angle, (2) hip abductor tendon degeneration, (3) the dimensions of peritrochanteric edema and (4) bursitis, on the presence of GTPS, using MR imaging. Materials and methods: The presence of pain was prospectively assessed blindly by the senior author. CEa and NSa were blindly measured in 174 hip MR examinations, after completion of the clinical evaluation by another evaluator. The existence and dimensions of T2 hyperintensity of the peritrochanteric soft tissues, the existence and dimensions of bursae, as well as degeneration and tearing of gluteus tendons were also recorded. Results: Out of 174 examinations, 91 displayed peritrochanteric edema (group A) and 34 bursitis, all with peritrochanteric edema (group B). A number of 78 patients from both A and B groups, showed gluteus medius tendon degeneration and one tendon tear. CEa of groups A and B were 6° higher than those of normals (group C, P = 0.0038). The mean age of normals was 16.6 years less than in group A and 19.8 years less than in group B (P < 0.0001). Bursitis was associated with pain with a negative predictive value of 97% (P = 0.0003). Conclusion: Acetabular morphology is associated with GTPS and the absence of bursitis was proved to be clinically relevant. Peritrochanteric edema alone was not associated with local pain

  13. Preliminary evaluation of child self-rating using the Child Tourette Syndrome Impairment Scale.

    Science.gov (United States)

    Cloes, Kelly Isaacs; Barfell, Kara S Francis; Horn, Paul S; Wu, Steve W; Jacobson, Sarah E; Hart, Kathleen J; Gilbert, Donald L

    2017-03-01

    To evaluate and compare how children with Tourette syndrome and parents rate tic and non-tic behavioral related impairment in home, school, and social domains; to compare these with clinician tic ratings; and to identify factors that may predict greater impairment. In a sample of 85 Tourette syndrome and 92 healthy control families, the Child Tourette Syndrome Impairment Scale, designed for parent-report and which includes 37 items rated for tic and non-tic impairment, was administered to parents and, with the referent modified, to children ages 9 to 17 years. Tic severity was rated using the Yale Global Tic Severity Scale (YGTSS). Analyses utilized descriptive and multivariate statistics. Tourette syndrome children's and parents' impairment ratings were higher than HC (ptic impairment ratings correlated with YGTSS (r=0.36 to 0.37; ptic and all 37 non-tic impairment items. For 29 items, children self-rated impairment higher for tics than non-tics. Diagnoses of attention-deficit-hyperactivity disorder and obsessive-compulsive disorder had larger effects on parent impairment ratings. The Child Tourette Syndrome Impairment Scale appears informative for child self-rating in Tourette syndrome. © 2016 Mac Keith Press.

  14. Two French-Speaking Cases of Foreign Accent Syndrome: An Acoustic-Phonetic Analysis

    Science.gov (United States)

    Roy, Johanna-Pascale; Macoir, Joel; Martel-Sauvageau, Vincent; Boudreault, Carol-Ann

    2012-01-01

    Foreign accent syndrome (FAS) is an acquired neurologic disorder in which an individual suddenly and unintentionally speaks with an accent which is perceived as being different from his/her usual accent. This study presents an acoustic-phonetic description of two Quebec French-speaking cases. The first speaker presents a perceived accent shift to…

  15. Burnout syndrome in pediatric practice.

    Science.gov (United States)

    Al-Youbi, Reem A; Jan, Mohammed M

    2013-07-01

    Burnout is a common work-related syndrome consisting of emotional exhaustion, depersonalization and diminished feelings of personal accomplishment. Burnout influences the performance and efficiency of the healthcare professionals and therefore the quality of the care provided. This study aims to assess the burnout rates and potential determinants in pediatrics. A cross-sectional, descriptive study involving physicians practicing pediatrics in the Jeddah area of Saudi Arabia was conducted utilizing the Maslach Burnout Inventory in addition to questions regarding work-related and lifestyle-related factors. One hundred and thirty pediatricians (55% females) were included with age ranging between 25 and 45 years (mean: 30). Most (46%) were consultants and 54% practiced in a university based setting. Burnout scores were abnormal in 107 (82%) and in 45 (34%) the syndrome was severe. Males were more likely to reach a severe burnout category compared to females (40% vs. 31%; p=0.012). Academic pediatricians working in a university setting were much more likely to experience severe burnout compared to their counterparts working in other hospitals (50% vs. 19%; p=0.0005). Consultants were also more likely to experience severe burnout compared to residents and assistants (46% vs. 27%; p=0.03). At least one third of practicing pediatricians suffer from burnout syndrome. Specific strategies should be developed and implemented to limit and prevent professional burnout.

  16. Burnout Syndrome in Pediatric Practice

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    Reem A. Al-Youbi

    2013-07-01

    Full Text Available Objectives: Burnout is a common work-related syndrome consisting of emotional exhaustion, depersonalization and diminished feelings of personal accomplishment. Burnout influences the performance and efficiency of the healthcare professionals and therefore the quality of the care provided. This study aims to assess the burnout rates and potential determinants in pediatrics.Methods: A cross-sectional, descriptive study involving physicians practicing pediatrics in the Jeddah area of Saudi Arabia was conducted utilizing the Maslach Burnout Inventory in addition to questions regarding work-related and lifestyle-related factors.Results: One hundred and thirty pediatricians (55% females were included with age ranging between 25 and 45 years (mean: 30. Most (46% were consultants and 54% practiced in a university based setting. Burnout scores were abnormal in 107 (82% and in 45 (34% the syndrome was severe. Males were more likely to reach a severe burnout category compared to females (40% vs. 31%; p=0.012. Academic pediatricians working in a university setting were much more likely to experience severe burnout compared to their counterparts working in other hospitals (50% vs. 19%; p=0.0005. Consultants were also more likely to experience severe burnout compared to residents and assistants (46% vs. 27%; p=0.03.Conclusion: At least one third of practicing pediatricians suffer from burnout syndrome. Specific strategies should be developed and implemented to limit and prevent professional burnout.

  17. PECULIARITIES OF THE NURSING PROCESS IN INFANTS WITH DOWN’S SYNDROME

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    N. B. Merzlova

    2012-01-01

    Full Text Available Nursing process arrangement for infants with Down’s syndrome requires nonroutine solutions when nurse’s professional capacity criterion is her psychological and pedagogical preparation, personality traits favoring the real communication with children and parents, vision of the future and a desire to find a way out of the impasse. Nursing process for infants with Down’s syndrome is put into effect in an extreme stress situation with a time limit on making a decision about whether to take a child in a family or to give it up, while it is also important that the nursing process as a method of consequent systematic professional nursing in corpore. A description of all stages of the nursing process for infants with Down’s syndrome is given, a map of each nursing process stage is made, a typology of psychological adaptation of mothers having given birth to children with perinatal pathology is given, recommendations on psychological aid for mothers of the infants with Down’s syndrome on the basis of the 4 aforementioned types of adaptation to an existing situation are structured.

  18. Understanding Bartter syndrome and Gitelman syndrome.

    Science.gov (United States)

    Fremont, Oliver T; Chan, James C M

    2012-02-01

    We aim to review the clinical features of two renal tubular disorders characterized by sodium and potassium wasting: Bartter syndrome and Gitelman syndrome. Selected key references concerning these syndromes were analyzed, together with a PubMed search of the literature from 2000 to 2011. The clinical features common to both conditions and those which are distinct to each syndrome were presented. The new findings on the genetics of the five types of Bartter syndrome and the discrete mutations in Gitelman syndrome were reviewed, together with the diagnostic workup and treatment for each condition. Patients with Bartter syndrome types 1, 2 and 4 present at a younger age than classic Bartter syndrome type 3. They present with symptoms, often quite severe in the neonatal period. Patients with classic Bartter syndrome type 3 present later in life and may be sporadically asymptomatic or mildly symptomatic. The severe, steady-state hypokalemia in Bartter syndrome and Gitelman syndrome may abruptly become life-threatening under certain aggravating conditions. Clinicians need to be cognizant of such renal tubular disorders, and promptly treat at-risk patients.

  19. Ulerythema ophryogenes, a rarely reported cutaneous manifestation of noonan syndrome: case report and review of the literature.

    Science.gov (United States)

    Li, Kayi; Ann Thomas, Mary; Haber, Richard M

    2013-01-01

    Ulerythema ophryogenes (also known as keratosis pilaris atrophicans faciei) is a rarely reported cutaneous manifestation of Noonan syndrome. Recognizing ulerythema ophryogenes as a cutaneous association in Noonan syndrome may aid in the diagnosis of this relatively common genetic condition. We present a case of a patient with Noonan syndrome and ulerythema ophryogenes associated with a SOS1 mutation and review the literature on this association. To the best of our knowledge, this is the second case of Noonan syndrome proven to be due to an SOS1 mutation in which ulerythema ophryogenes was clinically recognized and specifically diagnosed. The presence of ulerythema ophryogenes in a patient with Noonan syndrome increases the likelihood of a SOS1 mutation. Further reports by dermatologists and medical geneticists documenting ulerythema ophryogenes and not just descriptions of sparse or absent eyebrows will help support this genotype-phenotype correlation.

  20. A case of Balint syndrome: the importance of a specific neuropsychological appraisal in the clinical diagnosis of visuospatial disorders

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    Giuseppe Caravaglios

    2015-11-01

    Full Text Available Balint syndrome is characterized by a severe disturbance of visual spatial analysis including impaired oculomotor behaviour, optic ataxia, and simultanagnosia. The complete syndrome is relatively rare, and partial syndromes have been reported more frequently. The present study aims to describe a case of Balint syndrome who displayed all the three main neuropsychological features as a consequence of infarction in the watershed between the anterior and posterior cerebral artery territories. In this case report three days post stroke the clinical assessment showed a severe impairment in several visual spatial tasks (e.g. reading, writing, description of a visual scene, voluntary gaze-shift. Twelve weeks post-stroke the clinical assessment showed a significant improvement in reading, writing, as well as in verbal delayed recall processes, but only a mild improvement in visual spatial tasks like the description of a complex visual scene was registered. Balint’s syndrome is rare and is not easy to assess with standard clinical tools. The classical neurological examination evaluates in detail the senses, motility, balance, and to some extent language, but, sometimes, it is much less concerned with cognitive functions. The case discussed here is a good example of the need to emphasize that an acutely ill patient should also be accurately evaluated for the presence of cognitive and behavioural disturbances.

  1. Gender inequality in acute coronary syndrome patients at Omdurman Teaching Hospital, Sudan.

    Science.gov (United States)

    Mirghani, Hyder O; Elnour, Mohammed A; Taha, Akasha M; Elbadawi, Abdulateef S

    2016-01-01

    Gender differences among patients with the acute coronary syndrome is still being debated, no research has been done on gender inequality among coronary syndrome patients in Sudan. To study gender differences in presentation, management, and outcomes of acute coronary syndrome in Sudan. This cross-sectional descriptive longitudinal study was conducted in Omdurman Teaching Hospital between July 2014 and August 2015. Patients were invited to sign a written informed consent form, were interviewed and examined by a physician, and then followed during their hospital stay. Information collected includes coronary risk factors, vital signs, echocardiography findings, arrhythmias, heart failure, cardiogenic shock, and death. The Ethical Committee of Omdurman Teaching Hospital approved the research. A total of 197 consecutive acute coronary syndrome patients were included, 43.1% were females. A significant statistical difference was evident between males and females regarding the type of acute coronary syndrome, its presentation, and time of presentation to the hospital, smoking, and receipt of thrombolysis (P 0.05). Women were less likely to receive thrombolytic therapy, present with chest pain, and diagnosed with ST-segment elevation myocardial infarction. No gender differences were found in acute coronary syndrome risk factors apart from smoking, which was more common in males, and there were no differences between males and females as regards in-hospital complications.

  2. Ostentation et refus du travail chez Veblen : le cas des jeunes chômeurs et de la spécificité militaire

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    Sébastien Schehr

    2007-10-01

    Full Text Available Cette contribution entend interroger la notion de « refus du travail » chez Veblen, notamment dans son rapport à l’ostentation et à la symbolique des places. Elle comportera deux parties : la première où sera exposée et revisitée la thèse de Veblen sur la fonction du refus du travail comme signe distinctif de la classe de loisir ; la deuxième où nous confronterons l’héritage de Veblen à des phénomènes sociaux contemporains. À cette fin, nous nous appuierons sur le rapport au travail des jeunes chômeurs et, dans une moindre mesure, sur celui des militaires, pour montrer que le refus du travail reste un principe opératoire de différenciation des groupes sociaux.This article intends to evaluate the notion of “work refusal” which can be found within Veblen’s work about conspicuous consumption and the symbolic of places. This article is divided in two parts. First, we will expose and revise Veblen’s thesis about the function of “work refusal” as a distinctive mark of the Leisure Class. Secondly, we will confront Veblen’s heritage to contemporary social phenomenon. For that reason, we will study the cases of the relationship of employed youth to work and the military. We will show that the refusal work stays a main principle of differentiation within social groups.

  3. Kabuki syndrome in a girl with mosaic 45,X/47,XXX and aortic coarctation.

    Science.gov (United States)

    Chen, Chih-Ping; Lin, Shuan-Pei; Tsai, Fuu-Jen; Chern, Schu-Rern; Wang, Wayseen

    2008-06-01

    To describe the clinical findings of a patient with mosaic 45,X/47,XXX and aortic coarctation. Descriptive case study. Tertiary medical center. A 6-year-old girl with stigmata of Turner syndrome, aortic coarctation, patent ductus arteriosus, and a peculiar facial appearance. None. Cytogenetic analysis. The patient manifested a characteristic Kabuki syndrome facial appearance with long palpebral fissures, everted lateral third of lower eyelids, arched eyebrows, a depressed nasal tip, large dysplastic ears and epicanthic folds. She had undergone cardiac surgery for treatment of aortic coarctation and patent ductus arteriosus. Cytogenetic analysis of the blood lymphocytes revealed a karyotype of mos 45,X,9ph [35 cells]/47,XXX,9ph [5 cells]. This is the first report of mosaic 45,X/47,XXX associated with Kabuki syndrome. We emphasize that Kabuki syndrome, a peculiar facial appearance and aortic coarctation, should be considered in girls with sex chromosome abnormalities.

  4. Prenatal and Postnatal Sonographic Confirmation of Congenital Absence of the Ductus Venosus in a Child with Noonan Syndrome

    Directory of Open Access Journals (Sweden)

    Christopher L. Newman

    2017-01-01

    Full Text Available The ductus venosus serves as an important vascular pathway for intrauterine circulation. This case presents a description of an absent ductus venosus in a female patient with Noonan syndrome, including both prenatal and postnatal imaging of the anomaly. In the setting of the anomalous vascular connection, the umbilical vein courses inferiorly to the iliac vein in parallel configuration with the umbilical artery. This finding was suspected based on prenatal imaging and the case was brought to attention when placement of an umbilical catheter was thought to be malpositioned given its appearance on radiography. Ultrasound imaging confirmed the anomalous course. This is in keeping with prior descriptions in the literature of an association between Noonan syndrome and aberrant umbilical venous drainage. This case illustrates the need for awareness of this condition by the radiologist, allowing for identification on radiographs and the recommendation for further confirmatory imaging. Further, the case illustrates the value of paying particular attention to the fetal course of the umbilical vessels in patients with suspected Noonan syndrome, as this population is particularly at risk for anomalous vasculature.

  5. Prévalence du syndrome métabolique et de ses facteurs de risque chez les enfants et les adolescents canadiens : Enquête canadienne sur les mesures de la santé, cycle 1 (2007-2009 et cycle 2 (2009-2011

    Directory of Open Access Journals (Sweden)

    M. MacPherson

    2016-01-01

    Full Text Available Introduction : Nous avons étudié la prévalence du syndrome métabolique (SMet et de ses facteurs de risque ainsi que l'influence du statut socioéconomique chez les enfants et les adolescents canadiens. Méthodologie : Nous avons inclus dans notre étude les 1228 répondants de l'Enquête canadienne sur les mesures de la santé, cycle 1 (2007-2009 et cycle 2 (2009-2011, âgés de 10 à 18 ans et ayant fourni un échantillon de sang à jeun. Nous avons utilisé les définitions consensuelles du SMet proposées par la Fédération internationale du diabète (FID pour les enfants et adolescents (10 à 15 ans et pour les adultes (16 ans et plus. Nous avons mesuré la prévalence du SMet et de ses facteurs de risque ainsi que les différences en fonction du statut socioéconomique au moyen de tests du x2. Résultats : La prévalence du SMet était de 2,1 %. Le tiers (37,7 % des répondants présentaient au moins un facteur de risque, les plus répandus étant l'obésité abdominale (21,6 %, un faible taux de C-HDL (19,1 % et un taux de triglycérides élevé (7,9 %. Cette combinaison d'obésité abdominale, de faible taux de C-HDL et de taux élevé de triglycérides correspondait à 61,5 % des cas de SMet. Les participants des ménages de la tranche supérieure de revenu et bénéficiant d'un niveau de scolarité élevé présentaient la plus faible prévalence d'un ou de plusieurs facteurs de risque du SMet, d'obésité abdominale et de faible taux de C-HDL. Conclusion :La prévalence du SMet (2,1 % s'est révélée inférieure à celle mesurée auparavant pour le Canada (3,5 % et les États-Unis (4,2 % à 9,2 %, sans doute en raison de l'application stricte des critères de la FID pour l'étude du SMet. Le tiers des enfants et des adolescents canadiens présentaient au moins un facteur de risque de SMet. Comme le risque de SMet augmente avec l'âge, ces estimations de la prévalence, couplées à une prévalence nationale de l'obésité d

  6. Refeeding syndrome or refeeding hypophosphatemia: a systematic review of cases.

    Science.gov (United States)

    Skipper, Annalynn

    2012-02-01

    Nutrition support clinicians refer to the abnormalities in laboratory data and changes in clinical signs and symptoms that follow refeeding of starved or malnourished patients as refeeding syndrome. Theoretical descriptions of refeeding syndrome include a complex and extensive list of changes, such as hypophosphatemia, hypomagnesemia, hypokalemia, hyponatremia, hypocalcemia, hyperglycemia, and vitamin deficiency--all of which are accompanied by clinical signs and symptoms. In practice, clinicians see asymptomatic refeeding hypophosphatemia more often than a full-blown syndrome with multiple laboratory and clinical abnormalities. Confusion results because there is no widely accepted or uniformly applied set of defining characteristics for diagnosing refeeding syndrome. To gain insight into the clinical characteristics of refeeding syndrome described in the literature, a systematic review of reported cases and case series was conducted. Since 2000, 20 authors described 27 cases that contained sufficient data for review. Hypophosphatemia occurred in 26 patients (96%). While 19 patients (71%) experienced at least 1 other laboratory abnormality, only 14 (51%) exhibited a consistent pattern of abnormally low phosphorus and magnesium levels. Seven patients had hypocalcemia (26%), and hyponatremia was reported in 3 patients (11%). There were no reports of hyperglycemia. Mean data reported in case series containing data from 63 patients showed that hypophosphatemia was a consistent finding but that other abnormalities were not consistently identified. Findings suggest that refeeding hypophosphatemia is not accompanied by a consistent pattern of biochemical or clinical abnormalities among case reports or case series of patients reported to have refeeding syndrome.

  7. Brief Report: Major Depressive Disorder with Psychotic Features in Williams Syndrome--A Case Series

    Science.gov (United States)

    Valdes, Francisca; Keary, Christopher J.; Mullett, Jennifer E.; Palumbo, Michelle L.; Waxler, Jessica L.; Pober, Barbara R.; McDougle, Christopher J.

    2018-01-01

    Descriptions of individuals with Williams syndrome (WS) and co-morbid major depressive disorder (MDD) with psychotic features have not appeared in the literature. In addition to reviewing previous reports of psychotic symptoms in persons with WS, this paper introduces clinical histories and therapeutic management strategies for three previously…

  8. Down syndrome screening methods in Iranian pregnant women

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    Azizeh Farshbaf Khalili

    2012-08-01

    Full Text Available Introduction: Down syndrome is one of the most prevalent genetic diseases. Screening methods for this syndrome are easy and safe and are recommended to all pregnant wom-en particularly mothers over 35 years of age. This study aimed to review the status of Down syndrome screening and related factors in Iranian pregnant women. Methods: This descriptive analytical study was carried out in 2011. It included 400 women who were randomly selected from those referring to Alzahra Hospital (Tabriz, Iran during their third trimester of pregnancy. Data was collected through a question-naire whose reliability and validity have been approved. The data was analyzed by chi-square test in SPSS13. Results: The results showed that while 28 and 26 women imple-mented screening tests during the first and second trimesters, respectively, only 5 sub-jects benefited from both (integrated test. Chi-square test showed significant correla-tions between the implementation of screening methods and age, education level, in-come, and the location of prenatal care (p < 0.05. Conclusion: The findings of the present study showed women to poorly implement Down syndrome screening methods. Therefore, the necessity of providing appropriate educational programs for health staff and mothers seems undeniable. Moreover, paying attention to the related factors such as income, educational level, and adequate training of mothers during pregnancy is essential.

  9. Causes of death in Prader-Willi syndrome: Prader-Willi Syndrome Association (USA) 40-year mortality survey.

    Science.gov (United States)

    Butler, Merlin G; Manzardo, Ann M; Heinemann, Janalee; Loker, Carolyn; Loker, James

    2017-06-01

    Prader-Willi syndrome (PWS) is a rare, complex, neurodevelopmental genetic disorder that is associated with hyperphagia and morbid obesity in humans and leads to a shortened life expectancy. This report summarizes the primary causes of death and evaluates mortality trends in a large cohort of individuals with PWS. The US Prader-Willi Syndrome Association (PWSA (USA)) syndrome-specific database of death reports was collected through a cursory bereavement program for PWSA (USA) families using a brief survey created in 1999. Causes of death were descriptively characterized and statistically examined using Cox proportional hazards. A total of 486 deaths were reported (263 males, 217 females, 6 unknown) between 1973 and 2015, with mean age of 29.5 ± 16 years (2 months-67 years); 70% occurred in adulthood. Respiratory failure was the most common cause, accounting for 31% of all deaths. Males were at increased risk for presumed hyperphagia-related accidents/injuries and cardiopulmonary factors compared to females. PWS maternal disomy 15 genetic subtype showed an increased risk of death from cardiopulmonary factors compared to the deletion subtype. These findings highlight the heightened vulnerability to obesity and hyperphagia-related mortality in PWS. Future research is needed to address critical vulnerabilities such as gender and genetic subtype in the cause of death in PWS.Genet Med advance online publication 17 November 2016.

  10. Descriptive Research

    DEFF Research Database (Denmark)

    Wigram, Anthony Lewis

    2003-01-01

    Descriptive research is described by Lathom-Radocy and Radocy (1995) to include Survey research, ex post facto research, case studies and developmental studies. Descriptive research also includes a review of the literature in order to provide both quantitative and qualitative evidence of the effect...... starts will allow effect size calculations to be made in order to evaluate effect over time. Given the difficulties in undertaking controlled experimental studies in the creative arts therapies, descriptive research methods offer a way of quantifying effect through descriptive statistical analysis...

  11. [Maxillofacial and dental abnormalities in some multiple abnormality syndromes. "Cri du chat" syndrome, Wilms' tumor-aniridia syndrome; Sotos syndrome; Goldenhar syndrome].

    Science.gov (United States)

    Berio, A; Trucchi, R; Meliota, M

    1992-05-01

    The paper describes the maxillo-facial and dental anomalies observed in some chromosome and non-chromosome poly-malformative syndromes ("Cri du chat" syndrome; Wilms' tumour; Sotos' syndrome; Goldenhar's syndrome). The Authors emphasise the possibility of diagnosing these multiple deformity syndromes from maxillo-facial alterations in early infancy; anomalous tooth position and structure cal also be successfully treated immediately after the first appearance of teeth. This is a particularly promising field of pediatrics and preventive pediatric medicine.

  12. Work-related upper limb “overuse” syndromes

    DEFF Research Database (Denmark)

    Jepsen, Jørgen Riis

    2016-01-01

    to abnormalities in the nervous system or muscles. The general opinion gradually changed and a dysfunction of the central nervous system, a “neurosis” was assumed, because no underlying lesion of the nervous system could be identified and many patients appeared to be mentally ill. This narrative review discusses...... the symptoms and findings in the physical examination reported in the first historical descriptions and interpretations at that time. There is evidence for an involvement of the peripheral nerves in the pathogenesis of these syndromes although this was not demonstrated by systematical neurological examinations...

  13. Allgrove (Triple A Syndrome: A Case Report from the Kashmir Valley

    Directory of Open Access Journals (Sweden)

    Raiz Ahmad Misgar

    2015-12-01

    Full Text Available Allgrove (Triple A syndrome is a rare autosomal recessive disorder characterized by cardinal features of adrenal insufficiency due to adrenocorticotropic hormone (ACTH resistance, achalasia, and alacrimia. It is frequently associated with neurological manifestations like polyneuropathy. Since its first description by Allgrove in 1978, approximately 100 cases have been reported in the literature. Here we report an 18-year-old boy diagnosed as having Allgrove syndrome, with ACTH resistant adrenal insufficiency, achalasia, alacrimia, and severe motor polyneuropathy. Alacrimia was the earliest feature evident at the age of 8 years. He presented with achalasia and adrenal insufficiency at 12 and 18 years respectively and developed neurological symptoms in the form of severe muscle wasting at the age of 15 years. Patients with Allgrove syndrome usually manifest adrenal insufficiency and achalasia during first decade of life. Our patient manifested adrenal insufficiency and achalasia in the second decade and manifested neurological dysfunction before adrenal dysfunction.

  14. Relationship between type of work and metabolic syndrome among the National

    Directory of Open Access Journals (Sweden)

    Paul Alfaro Fernández

    2017-03-01

    Full Text Available Objective: To determine the relationship between public employees’ type of work and the development of metabolic syndrome. Materials and methods: Descriptive cross-sectional observational study. The sample consisted of employees of the National Electoral Board (JNE, Lima office, who underwent their 2013 occupational medical evaluation and were assessed according to the Adult Treatment Panel III (ATP - III criteria, as amended in 2005. Data collection was obtained from the employees’ occupational medical records. Results: Three hundred twenty-two (322 employees were evaluated. The metabolic syndrome prevalence was 2.17%. The administrative sector was affected in 2.28% (p = 1.0 compared to the non-administrative sector which showed no cases. The highest prevalence of metabolic syndrome was found in 30 - 39 years old employees (3.7% (p=0.495. The study showed statistical significance in relation to male gender (p= 0.019. Conclusions: In administrative employees of the JNE, there was no relationship between the

  15. Holiday heart syndrome revisited after 34 years.

    Science.gov (United States)

    Tonelo, David; Providência, Rui; Gonçalves, Lino

    2013-08-01

    The cardiovascular effects of alcohol are well known. However, most research has focused on the beneficial effects (the "French paradox") of moderate consumption or the harmful consequences, such as dilated cardiomyopathy, associated with heavy consumption over an extended period. An association between the ingestion of acute alcohol and onset of cardiac arrhythmias was first reported in the early 70's. In 1978, Philip Ettinger described "Holiday heart syndrome" (HHS) for the first time, as the occurrence, in healthy people without heart disease known to cause arrhythmia, of an acute cardiac rhythm disturbance, most frequently atrial fibrillation, after binge drinking. The name is derived from the fact that episodes were initially observed more frequently after weekends or public holidays. Since the original description of HHS, 34 years have passed and new research in this field has increased the volume of knowledge related to this syndrome. Throughout this paper the authors will comprehensively review most of the available data concerning HHS and highlight the questions that remain unresolved.

  16. History and First Descriptions of Autism: Asperger Versus Kanner Revisited.

    Science.gov (United States)

    Chown, Nick; Hughes, Liz

    2016-06-01

    When reading Michael Fitzgerald's chapter entitled 'Autism: Asperger's Syndrome-History and First Descriptions' in 'Asperger's Disorder' edited by Rausch, Johnson and Casanova, a while ago, one of us was struck by his contention that Kanner was guilty of plagiarism as well as non-attribution of Asperger's 1938 paper 'Das psychisch abnorme kind' (Fitzgerald in Asperger's disorder. Informa Healthcare, New York, 2008) published in a Vienna weekly. Steve Silberman has discovered evidence that Kanner rescued Asperger's chief diagnostician from the Nazis in 1944 so must have been aware of Asperger's work and conclusions. Fitzgerald was on the right track but it appears that Kanner may have plagiarised Asperger's ideas rather than his 1938 paper.

  17. Marfan syndrome masked by Down syndrome?

    NARCIS (Netherlands)

    Vis, J.C.; Engelen, K. van; Timmermans, J.; Hamel, B.C.J.; Mulder, B.J.

    2009-01-01

    Down syndrome is the most common chromosomal abnormality. A simultaneous occurrence with Marfan syndrome is extremely rare. We present a case of a 28-year-old female with Down syndrome and a mutation in the fibrillin-1 gene. The patient showed strikingly few manifestations of Marfan syndrome.

  18. Editorial: X-chromosome-linked Kallmann's syndrome: Pathology at the molecular level

    Energy Technology Data Exchange (ETDEWEB)

    Prager, D.; Braunstein, G.D. (Cedars-Sinai Medical Center, Los Angeles, CA (United States))

    1993-04-01

    Kallmann's syndrome or olfactogenital dysplasia refers to a disorder characterized by hypogonadotropic hypogonadism and anosmia or hyposmia which can occur sporadically or in a familial setting. Originally described in 1856, the first familial cases were reported by Kallmann et al., in 1944. Based on segregation analysis of multiple families, three modes of transmission have been documented: X-linked, autosomal dominant with variable penetrance, and autosomal recessive. Kallmann's syndrome occurs in less than 1 in 10,000 male births, with a 5-fold excess of affected males to females, suggesting that the X-linked form is the most frequent. By genetic linkage analysis the X-linked form of Kallmann's syndrome was localized to Xp22.3. This was confirmed by the description of patients with contiguous gene syndromes due to deletions of various portions of the distal short arm of the X-chromosome. Such patients present with complex phenotypes characterized by a combination of Kallmann's syndrome with X-linked icthyosis due to steroid sulfatase deficiency, chondrodysplasia punctata, short stature, and mental retardation. DNA analysis has identified and mapped the genes responsible for these disorders. 10 refs., 1 fig., 1 tab.

  19. Graphic Description: The Mystery of Ibn Khafaja\\'s Success in Description

    Directory of Open Access Journals (Sweden)

    جواد رنجبر

    2009-12-01

    Full Text Available Graphic Description:   The Mystery of Ibn Khafaja's Success in Description    Ali Bagher Taheriniya *  Javad Ranjbar **      Abstract Ibn Khafaja is one of the poets and men of letters in Spain. He is titled to Sanobari of Spain. He is one of the masters of description. Hence, the analysis of successful techniques he has used in the descriptive art could illuminate the way for others. Al-Taswir al-harfi (graphic description is a term which denotes the highest and most detailed poems. On this basis, the best descriptive poem is one which is closer to a painting. He has used some elements called conforming elements of description which contain: imagination, feeling, faculty, and dialogue as well as three other elements: to be inborn in description, enchanting nature and convenient life. This article is going to give an analysis of the reasons for Ibn Khafaja’s success in description and portrait making.   Key words: Ibn Khafaja, poetry, description, portrait   * Associate Professor, Bu Ali Sina University of Hamadan E-mail: bTaheriniya@yahoo.com  ** M.A. in Arabic Language and Literature

  20. Employing Picture Description to Assess the Students' Descriptive Paragraph Writing

    Directory of Open Access Journals (Sweden)

    Ida Ayu Mega Cahyani

    2018-03-01

    Full Text Available Writing is considered as an important skill in learning process which is needed to be mastered by the students. However, in teaching learning process at schools or universities, the assessment of writing skill is not becoming the focus of learning process and the assessment is administered inappropriately. In this present study, the researcher undertook the study which dealt with assessing descriptive paragraph writing ability of the students through picture description by employing an ex post facto as the research design. The present study was intended to answer the research problem dealing with the extent of the students’ achievement of descriptive paragraph writing ability which is assessed through picture description. The samples under the study were 40 students determined by means of random sampling technique with lottery system. The data were collected through administering picture description as the research instrument. The obtained data were analyzed by using norm-reference measure of five standard values. The results of the data analysis showed that there were 67.50% samples of the study were successful in writing descriptive paragraph, while there were 32.50% samples were unsuccessful in writing descriptive paragraph which was assessed by administering picture description test

  1. Gender inequality in acute coronary syndrome patients at Omdurman Teaching Hospital, Sudan

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    Hyder O Mirghani

    2016-01-01

    Full Text Available Background: Gender differences among patients with the acute coronary syndrome is still being debated, no research has been done on gender inequality among coronary syndrome patients in Sudan. Objectives: To study gender differences in presentation, management, and outcomes of acute coronary syndrome in Sudan. Subjects and Methods: This cross-sectional descriptive longitudinal study was conducted in Omdurman Teaching Hospital between July 2014 and August 2015. Patients were invited to sign a written informed consent form, were interviewed and examined by a physician, and then followed during their hospital stay. Information collected includes coronary risk factors, vital signs, echocardiography findings, arrhythmias, heart failure, cardiogenic shock, and death. The Ethical Committee of Omdurman Teaching Hospital approved the research. Results: A total of 197 consecutive acute coronary syndrome patients were included, 43.1% were females. A significant statistical difference was evident between males and females regarding the type of acute coronary syndrome, its presentation, and time of presentation to the hospital, smoking, and receipt of thrombolysis (P 0.05. Conclusion: Women were less likely to receive thrombolytic therapy, present with chest pain, and diagnosed with ST-segment elevation myocardial infarction. No gender differences were found in acute coronary syndrome risk factors apart from smoking, which was more common in males, and there were no differences between males and females as regards in-hospital complications.

  2. Metabolic syndrome in mental health and addiction treatment: a quantitative study.

    Science.gov (United States)

    Flynn, M; Houtjes, W; Merks, A; van Mierlo, A; van de Wetering, B

    2015-02-01

    Patients with mental illnesses have been found to shorter life expectancy due to an increased risk of heart disease. Some medication used to treat mental illnesses have been linked to weight gain and other physical change that make patients susceptible to heart disease. In order to reduce this risk it is important that health professionals regularly measure and monitor signs of these physical changes. This research has found that measuring both waist circumference and blood pressure of patients is a safe and reliable way to way to monitor patients. To identify if combined blood pressure and waist circumference measurements are reliable predictor of metabolic syndrome, a descriptive correlational design was used to examine the sensitivity and specificity of screening techniques used to detect metabolic syndrome. Data were collected regarding waist circumference, body mass index, blood pressure, fasting blood glucose, triglycerides and high-density lipoproteins. Blood pressure and waist circumference measurements demonstrated high significance, sensitivity and specificity as screening instruments for metabolic syndrome. Combined waist circumference and blood pressure measurements may be clinically useful for a quick and reliable detection of metabolic syndrome in patients with addiction and comorbid mental health problems. © 2014 John Wiley & Sons Ltd.

  3. Spatial analysis of homicides in South East Brazil: An assessment of differential risk between men, women, and the youth / Analyse des homicides dans la région du Sud-Est du Brésil : une évaluation des risques différentiels chez les hommes, les femmes et les jeunes

    Directory of Open Access Journals (Sweden)

    Diniz Alves Alexandre Magno

    2012-10-01

    Full Text Available Cette étude se base sur une perspective géographique et analyse l’évolution dans l’espace et dans le temps des taux moyens de morts par homicide dans la région du Sud-Est du Brésil, entre 2001 et 2008, chez les hommes, les femmes, les jeunes entre 15 et 29 ans, et l’ensemble de la population. Les résultats mettent en évidence que ce phénomène touche de manière asymétrique les jeunes hommes, tandis que chez les femmes les taux moyens sont les plus bas. L’analyse dans l’espace a souligné qu’il existe des zones avec des taux d’homicide élevés et stabilisés dans le temps, comme les régions métropolitaines de Rio de Janeiro et Vitória. En revanche, l’étude a montré qu’entre les régions métropolitaines de Belo Horizonte (RMBH, Campinas et San Paolo, les dynamiques sont différentes. This study is based on a geographical perspective and explores the spatial and temporal evolution of average homicide rates in Southeast Brazil, between 2001 and 2008 for different subpopulations (male, female, youth, and total population. Results show that this phenomenon affects asymmetrically young males, while women have the lowest average rates. Spatial analysis pinpoints consolidated areas with high homicide rates, such as the metropolitan areas of Rio de Janeiro and Vitoria. On the other hand, different dynamics can be observed among the metropolitan areas of Belo Horizonte (BHMA, Campinas and Sao Paulo.

  4. The developmental trajectory of disruptive behavior in Down syndrome, fragile X syndrome, Prader-Willi syndrome and Williams syndrome.

    Science.gov (United States)

    Rice, Lauren J; Gray, Kylie M; Howlin, Patricia; Taffe, John; Tonge, Bruce J; Einfeld, Stewart L

    2015-06-01

    The aim of this study was to investigate the developmental trajectories of verbal aggression, physical aggression, and temper tantrums in four genetic syndrome groups. Participants were part of the Australian Child to Adult Development Study (ACAD), which collected information from a cohort of individuals with an intellectual disability at five time points over 18 years. Data were examined from a total of 248 people with one of the four following syndromes: Down syndrome, Fragile X syndrome, Prader-Willi syndrome, or Williams syndrome. Changes in behaviors were measured using validated items from the Developmental Behavior Checklist (DBC). The results indicate that, while verbal aggression shows no evidence of diminishing with age, physical aggression, and temper tantrums decline with age before 19 years for people with Down syndrome, Fragile X syndrome, and William syndrome; and after 19 years for people with Prader-Willi syndrome. These findings offer a somewhat more optimistic outlook for people with an intellectual disability than has previously been suggested. Research is needed to investigate the mechanisms predisposing people with PWS to persistence of temper tantrums and physical aggression into adulthood. © 2015 Wiley Periodicals, Inc.

  5. Hamartomatous polyposis syndromes

    DEFF Research Database (Denmark)

    Jelsig, Anne Marie; Qvist, Niels; Brusgaard, Klaus

    2014-01-01

    Hamartomatous Polyposis Syndromes (HPS) are genetic syndromes, which include Peutz-Jeghers syndrome, Juvenile polyposis syndrome, PTEN hamartoma tumour syndrome (Cowden Syndrom, Bannayan-Riley-Ruvalcaba and Proteus Syndrome) as well as hereditary mixed polyposis syndrome. Other syndromes such as ......Hamartomatous Polyposis Syndromes (HPS) are genetic syndromes, which include Peutz-Jeghers syndrome, Juvenile polyposis syndrome, PTEN hamartoma tumour syndrome (Cowden Syndrom, Bannayan-Riley-Ruvalcaba and Proteus Syndrome) as well as hereditary mixed polyposis syndrome. Other syndromes...

  6. Cogan's syndrome: present and future directions.

    LENUS (Irish Health Repository)

    Murphy, Grainne

    2009-08-01

    Cogan\\'s syndrome, typified by the combination of interstitial keratitis and immune-mediated sensorineural hearing loss, is a rare condition, and commonly associated with a diagnostic delay. Using a standard search protocol, we review the literature to date, focusing on a number of key areas pertaining to diagnosis, presentation and treatment. Using a case illustration of atypical disease which led to fulminant aortic regurgitation, we highlight the need for continued and collaborative research in order to identify negative prognostic factors and thus tailor therapeutic regimens. Atypical Cogan\\'s syndrome is more commonly associated with systemic manifestations than typical disease, and may be refractory to immunosuppressive treatment. We discuss the application of laboratory (e.g antibodies targeting inner ear antigens) and radiological (PET-CT) aids to disease confirmation and detection of sub-clinical vascular inflammation. As illustrated by the included case description, some patients remain refractory to intense immunosuppression and delineation of adverse prognostic factors which may direct treatment, perhaps including the use of PET-CT, will contribute in the future to improving patient outcomes.

  7. Alterations of the skull Usher's syndrome

    International Nuclear Information System (INIS)

    Popsavov, P.; Medzhidieva, D.; Zahov, Vl.; Tonchev, Z.

    2004-01-01

    Usher's syndrome is relatively often met. It is cited that it comprehends 2/3 of the recessive hereditary diseases in otology. Sensorineural hearing loss, vestibular dysfunction and hemeralopia are not so rarely met in our country, but their connection to this syndrome are scarcely cited in the newer specialized literature. In it we didn't find description of the characteristic, as we consider them, osteolytic focuses in the flat bones. The cases presented by us were monitored clinically and roentrgenographically for long years. Periodically were performed roentgenograms, CT and MRI of the skull, where the changes are most often met. We analyzed the imaging information that was found in our patients and compared it with the citations in world literature, which are not too many. It is analysed the course of the clinical signs and the algorithm of the imaging techniques to be evaluated the progress of the disease and the results of the applied therapy. We consider that the diagnostic and differential-diagnostic analysis of the cases will be helpful for the popularisation and the more precise diagnose of this serious disease

  8. Tetrabenazine-induced oculogyric crisis – a rare complication in the treatment of Gilles de la Tourette syndrome

    Directory of Open Access Journals (Sweden)

    Janik P

    2016-02-01

    Full Text Available Piotr Janik,1 Monika Figura1,2 1Department of Neurology, Anna Gostynska Wolski Hospital, 2Department of Neurology, Faculty of Health Sciences, Medical University of Warsaw, Warsaw, Poland Abstract: Tetrabenazine is used in the treatment of chorea, tardive dyskinesia, tics, and dystonia. It rarely causes acute eyeball dystonia and the description of this complication in Gilles de la Tourette syndrome is limited. We provide a description of an acute oculogyric crisis caused by tetrabenazine in a patient with severe tics. The patient had never developed acute dystonic reactions, although he was previously exposed to numerous dopamine receptor-blocking agents. After 8 days of therapy with tetrabenazine at a dose of 62.5 mg daily, the patient developed involuntary movement of the eyeballs. Withdrawal of tetrabenazine caused resolution of all symptoms after a week. The purpose of this description is to draw attention to the potential of tetrabenazine to induce acute oculogyric crisis as well as the difficulty of differentiating drug-induced dystonia from dystonic tics in patients with Gilles de la Tourette syndrome. Keywords: acute dyskinesia, dystonic tics, eyeball dystonia, drug-induced dystonia, tic disorder, tetrabenazine-induced side effects

  9. Obesity and metabolic syndrome in COPD: Is exercise the answer?

    Science.gov (United States)

    James, Benjamin D; Jones, Amy V; Trethewey, Ruth E; Evans, Rachael A

    2018-05-01

    Approximately half of all patients with chronic obstructive pulmonary disease (COPD) attending pulmonary rehabilitation (PR) programmes are overweight or obese which negatively impacts upon dyspnoea and exercise tolerance particularly when walking. Within the obese population (without COPD), the observed heterogeneity in prognosis is in part explained by the variability in the risk of developing cardiovascular disease or diabetes (cardiometabolic risk) leading to the description of metabolic syndrome. In obesity alone, high-intensity aerobic training can support healthy weight loss and improve the constituent components of metabolic syndrome. Those with COPD, obesity and/or metabolic syndrome undergoing PR appear to do as well in traditional outcomes as their normal-weight metabolically healthy peers in terms of improvement of symptoms, health-related quality of life and exercise performance, and should therefore not be excluded. To broaden the benefit of PR, for this complex population, we should learn from the extensive literature examining the effects of exercise in obesity and metabolic syndrome discussed in this review and optimize the exercise strategy to improve these co-morbid conditions. Standard PR outcomes could be expanded to include cardiometabolic risk reduction to lower future morbidity and mortality; to this end exercise may well be the answer.

  10. Cugini's syndrome: its clinical history and diagnosis

    Directory of Open Access Journals (Sweden)

    Laura Gasbarrone

    2013-09-01

    Full Text Available INTRODUCTION: This article deals with the description and diagnosis of a new nosographic syndrome, which received the eponym of "Cugini's syndrome" by the name of the Author who discovered its clinical picture. This syndrome is characterized by the binomial: "minimal target organ damage associated to monitoring prehypertension". CLINICAL HISTORY AND DIAGNOSIS: Between the years 1997 and 2002, the Author published a series of investigations regarding some office normotensives who inexplicably showed incipient signs of target organ damage (TOD. Investigated via ambulatory (A blood (B pressure (P monitoring (M, these subjects were surprisingly found not to be hypertensive. Neverthless, the office normotensives with TOD exibited the daily mean level of their systolic (S and diastolic (D BP (DML SBP/DBP significantly more elevated as compared to true normotensives. Because of these ABPM findings, the Author realized that the investigated subjects were false normotensives whose TOD was associated with a monitoring prehypertension (ABPM-diagnosable prehypertension alias monitoring prehypertension alias masked prehypertension. The year after the last Cugini's investigation, the INC-7 Reports introduced the term: "prehypertension" in its classification of arterial hypertension, as an office sphygmomanometric condition in between office normotension and office hypertension. The ABPM cut-off upper limits for a differential diagnosis between monitoring normotension, prehypertension and hypertension are reported, as calculated by the Author in its collection of ABPMs. The eponym of "Cugini's syndrome" was assigned in 2007 and confirmed in 2009. CONCLUSIVE REMARKS: The monitoring prehypertension is a further condition of discrepancy between office sphygmomanometry and ABPM, as per a masked prehypertension, whose diagnosis has to be immediately diagnosed, for preventing the onset of a TOD. There are reported the present investigations dealing with the possible

  11. BURNOUT SYNDROME IN SCHOOL PRINCIPAL. AN EXPLORATORY STUDY FROM A ONE-DIMENSIONAL APPROACH

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    Arturo Barraza Macías

    2010-10-01

    Full Text Available This research aims to: a Specify the descriptive profile Burnout Syndrome who have primary school principal, b Establish the extent to which demographic variables influence the level of burnout syndrome reported by primary school principal, and c determine the relationship between the level of job satisfaction and burnout syndrome reported by primary school principal. The theoretical construction of the research object was based on the approach conceptual one-dimensional and the interactive model explanatory. To achieve the stated objectives,  was performed a study exploratory, correlational, cross and not experimental. For the collection of information was applied Shirom Melamed Burnout Measure of a population of 24 directors of elementary education in the of seven and eight school zones located in the city of Surango. The main results are: 1 .- that primary school managers surveyed present a mild level of burnout, 2 .- that the sociodemographic variables studied did not influence the level and 3 .- the variable job satisfaction have a significant negative correlation with level of burnout syndrome.

  12. Psychosocial factors and prevalence of burnout syndrome among nursing workers in intensive care units.

    Science.gov (United States)

    da Silva, Jorge Luiz Lima; Soares, Rafael da Silva; Costa, Felipe dos Santos; Ramos, Danusa de Souza; Lima, Fabiano Bittencourt; Teixeira, Liliane Reis

    2015-01-01

    To evaluate the prevalence of burnout syndrome among nursing workers in intensive care units and establish associations with psychosocial factors. This descriptive study evaluated 130 professionals, including nurses, nursing technicians, and nursing assistants, who performed their activities in intensive care and coronary care units in 2 large hospitals in the city of Rio de Janeiro, Brazil. Data were collected in 2011 using a self-reported questionnaire. The Maslach Burnout Inventory was used to evaluate the burnout syndrome dimensions, and the Self Reporting Questionnaire was used to evaluate common mental disorders. The prevalence of burnout syndrome was 55.3% (n = 72). In the quadrants of the demand-control model, low-strain workers exhibited a prevalence of 64.5% of suspected cases of burnout, whereas high-strain workers exhibited a prevalence of 72.5% of suspected cases (p = 0.006). The prevalence of suspected cases of common mental disorders was 27.7%; of these, 80.6% were associated with burnout syndrome (stress levels - active work (OR = 0.26; 95%CI = 0.09 - 0.69) and passive work (OR = 0.22; 95%CI = 0.07 - 0.63) - were protective factors for burnout syndrome. Psychosocial factors were associated with the development of burnout syndrome in this group. These results underscore the need for the development of further studies aimed at intervention and the prevention of the syndrome.

  13. Distinguishing Features and Similarities Between Descriptive Phenomenological and Qualitative Description Research.

    Science.gov (United States)

    Willis, Danny G; Sullivan-Bolyai, Susan; Knafl, Kathleen; Cohen, Marlene Z

    2016-09-01

    Scholars who research phenomena of concern to the discipline of nursing are challenged with making wise choices about different qualitative research approaches. Ultimately, they want to choose an approach that is best suited to answer their research questions. Such choices are predicated on having made distinctions between qualitative methodology, methods, and analytic frames. In this article, we distinguish two qualitative research approaches widely used for descriptive studies: descriptive phenomenological and qualitative description. Providing a clear basis that highlights the distinguishing features and similarities between descriptive phenomenological and qualitative description research will help students and researchers make more informed choices in deciding upon the most appropriate methodology in qualitative research. We orient the reader to distinguishing features and similarities associated with each approach and the kinds of research questions descriptive phenomenological and qualitative description research address. © The Author(s) 2016.

  14. The clinical picture of the Borjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations.

    NARCIS (Netherlands)

    Turner, G.; Lower, K.M.; White, S.M.; Delatycki, M.B.; Lampe, A.K.; Wright, M.; Smith, J.C.; Kerr, B.A.; Schelley, S.; Hoyme, H.E.; Vries, L.B.A. de; Kleefstra, T.; Grompe, M.; Cox, B.; Gecz, J.; Partington, M.

    2004-01-01

    The usual description of the Borjeson-Forssman-Lehmann syndrome (BFLS) is that of a rare, X-linked, partially dominant condition with severe intellectual disability, epilepsy, microcephaly, coarse facial features, long ears, short stature, obesity, gynecomastia, tapering fingers, and shortened toes.

  15. Longitudinal ophthalmic findings in a child with Helsmoortel-Van der Aa Syndrome

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    Michael J. Gale

    2018-06-01

    Full Text Available Purpose: We present the first detailed ophthalmic description of a child with Helsmoortel-Van der Aa Syndrome (HVDAS, including longitudinal follow-up and analysis. Observations: After extensive workup, a young child with poor visual behavior, hypotonic cerebral palsy, intellectual disability, and global developmental delay was found to have a heterozygous de novo mutation in the ADNP gene and diagnosed with HVDAS. Ophthalmic findings were remarkable for progressive nystagmus, macular pigment mottling, mild foveal hypoplasia with abnormal macular laminations, persistent rod dysfunction with electronegative waveform, and progressive cone degeneration. Conclusions and importance: Patients with HVDAS are known to have abnormal visual behavior due to refractive or cortical impairment. However, we present the first description, to our knowledge, of an association with retinal mal-development and degeneration. Thus, patients with HVDAS should be referred for ophthalmic genetics evaluation, and HVDAS should be on the differential diagnosis for young children with global developmental delay who present with nystagmus, rod and cone dysfunction with electronegative waveform, and relative lack of severe structural degeneration on optical coherence tomography. Keywords: Helsmoortel-Van der Aa Syndrome, HVDAS, Activity-dependent neuroprotective protein, ADNP, Nystagmus, Retinal degeneration, Electronegative waveform, Optical coherence tomography

  16. Quality of life of parents with Down syndrome children

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    Leandro Loureiro Buzatto

    2008-09-01

    Full Text Available Objectives: The purpose of this study was to investigate the social and demographic features and quality of life of parents that have children with Down syndrome, and to verify the influence that the care of these children has on the quality of life of their parents. Methods: This was an investigative and descriptive study that included a sample of 30 parents that have children with Down syndrome who were registered in the APAE Sao Paulo and APAE Barueri. A questionnaire elaborated by the authors and the Quality of Life Scale (WHOQOL-BREF questionnaire were applied. Rresults: In the sample of 30 parents of children with Down syndrome, 80% were female. The age ranged from 28 to 49 years, mean of 37 years. The quality of life was described as “good” by 60% of the sample. The following WOHQOL-BREF scores were found: social (80.72; physical (73.36; environmental (69.74; and psychological (60.28. There were 12 responses about the influence of the care of Down syndrome children on quality of life, of which 58.3% reported major involvement with the education and care of the children, which resulted in satisfaction. Cconclusion: The psychological domain had the lowest score in the quality of life evaluation, suggesting that parents need to be offered psychological support.

  17. Seckel syndrome: an overdiagnosed syndrome.

    OpenAIRE

    Thompson, E; Pembrey, M

    1985-01-01

    Five children in whom a diagnosis of Seckel syndrome had previously been made were re-examined in the genetic unit. One child had classical Seckel syndrome, a sib pair had the features of the syndrome with less severe short stature, and in two children the diagnosis was not confirmed. Seckel syndrome is only one of a group of low birth weight microcephalic dwarfism and careful attention should be paid to fulfillment of the major criteria defined by Seckel before the diagnosis is made. There r...

  18. Rare Complications of Cervical Spine Surgery: Horner's Syndrome.

    Science.gov (United States)

    Traynelis, Vincent C; Malone, Hani R; Smith, Zachary A; Hsu, Wellington K; Kanter, Adam S; Qureshi, Sheeraz A; Cho, Samuel K; Baird, Evan O; Isaacs, Robert E; Rahman, Ra'Kerry K; Polevaya, Galina; Smith, Justin S; Shaffrey, Christopher; Tortolani, P Justin; Stroh, D Alex; Arnold, Paul M; Fehlings, Michael G; Mroz, Thomas E; Riew, K Daniel

    2017-04-01

    A multicenter retrospective case series. Horner's syndrome is a known complication of anterior cervical spinal surgery, but it is rarely encountered in clinical practice. To better understand the incidence, risks, and neurologic outcomes associated with Horner's syndrome, a multicenter study was performed to review a large collective experience with this rare complication. We conducted a retrospective multicenter case series study involving 21 high-volume surgical centers from the AOSpine North America Clinical Research Network. Medical records for 17 625 patients who received subaxial cervical spine surgery from 2005 to 2011 were reviewed to identify occurrence of 21 predefined treatment complications. Descriptive statistics were provided for baseline patient characteristics. Paired t test was used to analyze changes in clinical outcomes at follow-up compared to preoperative status. In total, 8887 patients who underwent anterior cervical spine surgery at the participating institutions were screened. Postoperative Horner's syndrome was identified in 5 (0.06%) patients. All patients experienced the complication following anterior cervical discectomy and fusion. The sympathetic trunk appeared to be more vulnerable when operating on midcervical levels (C5, C6), and most patients experienced at least a partial recovery without further treatment. This collective experience suggests that Horner's syndrome is an exceedingly rare complication following anterior cervical spine surgery. Injury to the sympathetic trunk may be limited by maintaining a midline surgical trajectory when possible, and performing careful dissection and retraction of the longus colli muscle when lateral exposure is necessary, especially at caudal cervical levels.

  19. Nurses and burnout syndrome

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    Zarema Obradović

    2013-04-01

    Full Text Available Introduction: The work of nurses is human. They help people in protection against diseases. Nurses are the largest group of health workers and all problems that appear in the health system are first recognized among them. Burnout syndrome appears among nurses very frequently. We present the leading factors for burnout among nurses in RMC „Dr Safet Mujic“ in Mostar, Bosnia and Herzegovina.Methods: It is a cross sectional descriptive study. We used an anonymous questionnaire with 20 questions. Our sample was random with 30% of all nurses which were working in this Medical Center in January-February 2012.Results: In our study 77.9% nurses work in the hospital. 52% have over 16 years of work experience. 34.6% of examinees are satisfi ed with interpersonal relationships, 31.7 % are satisfi ed with relationships with the superior. Motivation for work have 51% of examinees, a big number comes unwilling on work.For 83.7% overtime work is the reason for dissatisfaction 71.2% examinees think that they can't make progress on work. A high percentage of examinees doesn't think about problems related to work outside working hours, a good sleep have 38.5% and 56.7% wakes up tired. Many of examinees are not satisfiedwith workplace, and 58.7% would like to change it.Conclusion: Nurses employed in RMC „Dr Safet Mujic“ Mostar are exposed to many factors during work which can cause the burnout syndrome. It is necessary to expand the study on a larger group of nurses and to implement the measures for reducing risks of burnout syndrome.

  20. Morell Mackenzie's Contribution to the Description of Spasmodic Dysphonia.

    Science.gov (United States)

    Lorch, Marjorie Perlman; Whurr, Renata

    2016-12-01

    Since the middle of the 20th century, most discussions of spasmodic dysphonia (SD) reference a paper by Ludwig Traube published in1871 as the first historical citation, crediting him with priority for this clinical syndrome. However, our recent research has determined that the original observation by Traube was published in 1864 and does not in fact describe what is currently recognized as SD. It appears that many clinics throughout Europe and North America were investigating and publishing observations on a range of voice disorders. The wider context of work on laryngeal disorders in the 1860s-1870s is considered. One of Traube's contemporaries, Morell Mackenzie, made significant contributions to the understanding of laryngeal movement disorder and its consequences for the voice. These will be examined to gain a clearer focus on the characterization of this disorder. The clinical descriptions published by Morrell Mackenzie in the 1860s provide details that conform quite closely to our current-day understanding of SD. The citation of Traube's "hysterical" patient links to mid 20th-century views of the functional nature of SD and the utility of psychiatric treatment. The description presented by Mackenzie is consistent with current views of SD as a movement disorder. © The Author(s) 2016.

  1. [A postpartum woman with toxic shock syndrome: group A streptococcal infection, a much feared postpartum complication.

    NARCIS (Netherlands)

    Abbink, K.; Kortekaas, J.C.; Buise, M.P.; Dokter, J.; Kuppens, S.M.; Hasaart, T.H.M.

    2016-01-01

    BACKGROUND: The development of toxic shock syndrome (TSS) after an invasive group A streptococcal (GAS) infection in the postpartum period is a much feared complication. The mortality rate of TSS with necrotizing fasciitis is 30 to 50%. CASE DESCRIPTION: We present the case of a woman with atypical

  2. Superior Mesenteric Artery Syndrome or Wilkie Syndrome

    International Nuclear Information System (INIS)

    Castano Llano, Rodrigo; Chams Anturi, Abraham; Arango Vargas, Paula

    2009-01-01

    We described three cases of superior mesenteric artery (SMA) syndrome, also known as Wilkie's syndrome, chronic duodenal ileus, or cast syndrome. This syndrome occurs when the third portion of the duodenum is compressed between the SMA and the aorta. The major risk factors for development of SMA syndrome are rapid weight loss and surgical correction of spinal deformities. The clinical presentation of SMA syndrome is variable and nonspecific, including nausea, vomiting, abdominal pain, and weight loss. The diagnosis is based on endoscopic, radiographic and tomographic findings of duodenal compression by the SMA. The treatment of SMA syndrome is aimed at the precipitating factor, which usually is related to weight loss. Therefore, conservative therapy with nutritional supplementation is the initial approach, and surgery is reserved for those who do not respond to nutritional therapy.

  3. Impact of Chromosome 4p- Syndrome on Communication and Expressive Language Skills: A Preliminary Investigation

    Science.gov (United States)

    Marshall, Althea T.

    2010-01-01

    Purpose: The purpose of this investigation was to examine the impact of Chromosome 4p- syndrome on the communication and expressive language phenotype of a large cross-cultural population of children, adolescents, and adults. Method: A large-scale survey study was conducted and a descriptive research design was used to analyze quantitative and…

  4. Educating Children with Down Syndrome in Lebanon: An Exploratory Study of Urban Mothers' Perspective

    Science.gov (United States)

    Hatoum, Rima J.

    2010-01-01

    In view of the fact that Lebanon does not currently have a special education infrastructure, the purpose of this exploratory qualitative study was to understand the phenomenon of educating children with Down syndrome (DS) in Lebanon in terms of the meanings mothers ascribe to it and their description of their experience. The intent was to develop…

  5. A descriptive retrospective study on children with newly diagnosed nephrotic syndrome presented to Tripoli Children Hospital during the period between Jan. to Dec. 2014

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    Naziha Ramadan Rhuma

    2016-10-01

    Full Text Available Introduction: Nephrotic syndrome is a clinical picture characterized by severe proteinuria, hypoalbuminemia, edema and hypercholesterolemia. A retrospective study was carried out in order to describe disease pattern in newly diagnosed nephrotic syndrome of children admitted to Tripoli children hospital during the year 2014. Methods: The medical data of 56 patients aged between 1 year and 11 years diagnosed with idiopathic nephrotic syndrome were analysed using SPSS software. The data included gender differences, sensitivity to steroid therapy, relapses during six months of follow up and the effect of variable factors such as family history, hypertension, hematuria, serum urea on the degree of relapse. Results: Out of 56 patients with newly diagnosed nephrotic syndrome (NS, 60.7% were boys and 39.3% were girls, with a mean age 4.2±2.2 years. Age  was related significantly to the response to steroid therapy, where 79.5% of patients aged between 2-8 years (group 1 had steroid sensitive nephrotic syndrome (SSNS compared with only 41.7% of patients aged less than 2 years or more than 8 years (group 2  (P<0.001.  Although girls relapsed more than boys (70.5% versus 57.1% during six months of therapy, this difference was not statistically significant. Similarly, no other factors measured such as family history of NS, hypertension, hematuria, serum complement and urea had any effect on the percentage of relapse in patients with newly diagnosed NS.  Conclusion: NS is one of the commonest reasons for admission to nephrology ward. It is more common in boys than girls. The age at presentation related significantly to the response to steroidal therapy. Regarding relapses, girls seems to relapse more frequent than boys and relapses was seen more in age group 1 than group 2, however, these differences were not significant. Other factors studied seems to have no effect on the relapse rate of children with newly diagnosed NS. Key-words:  Idiopathic

  6. Beals Syndrome

    Science.gov (United States)

    ... the syndrome. How does Beals syndrome compare with Marfan syndrome? People with Beals syndrome have many of the ... bone) and aortic enlargement problems as people with Marfan syndrome, and treatments for these problems are the same. ...

  7. Prader Willi Syndrome: A Family's Experience

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    Emma Walker

    2006-01-01

    Full Text Available Genetic research has offered, and continues to offer, a medical explanation of chromosomal disorders such as Down Syndrome and Asberger Syndrome and more recently the rare chromosomal disorder Prader Willi Syndrome. This research gives a pathogenic explanation of disorders which includes historical background, genetic defects and clinical features. This study set out to offer an insight into the effects of PWS on the child and his/her family. It also aimed to highlight what support systems are in place in the Co. Louth area of Ireland for individuals with PWS. Unfortunately, PWS is not curable at this time. Between 1995-2003 there were 39 diagnosed cases of PWS in Ireland, an average of 4.3 per year. On average there are four infants or children diagnosed in Ireland with PWS per year (Turner, 2004, National Centre for Medical Genetics. This study is an exploratory and descriptive case study. This case study drew on multiple sources of evidence to construct a valid and unique illustration of PWS. The primary source of data was derived from in-depth interviews with the parents of a 3-year-old girl who has PWS. She was diagnosed during the third week of life. The evidence of this study suggests that non-specialist medical staff are not generally familiar with PWS. Training in relation to diagnostic criteria for chromosomal disorders would be extremely beneficial to them and to familes that are affected by the syndrome. This study highlights the need for parents to be their own child's advocate in obtaining desired support services for their area. Support services in the North East region have been greatly increased due to the setting up of the North Eastern Health Board (now known as Health Service Executive, North East Region Early Intervention Services (EIS in 2000.

  8. Scene perception in posterior cortical atrophy: categorization, description and fixation patterns.

    Science.gov (United States)

    Shakespeare, Timothy J; Yong, Keir X X; Frost, Chris; Kim, Lois G; Warrington, Elizabeth K; Crutch, Sebastian J

    2013-01-01

    Partial or complete Balint's syndrome is a core feature of the clinico-radiological syndrome of posterior cortical atrophy (PCA), in which individuals experience a progressive deterioration of cortical vision. Although multi-object arrays are frequently used to detect simultanagnosia in the clinical assessment and diagnosis of PCA, to date there have been no group studies of scene perception in patients with the syndrome. The current study involved three linked experiments conducted in PCA patients and healthy controls. Experiment 1 evaluated the accuracy and latency of complex scene perception relative to individual faces and objects (color and grayscale) using a categorization paradigm. PCA patients were both less accurate (faces < scenes < objects) and slower (scenes < objects < faces) than controls on all categories, with performance strongly associated with their level of basic visual processing impairment; patients also showed a small advantage for color over grayscale stimuli. Experiment 2 involved free description of real world scenes. PCA patients generated fewer features and more misperceptions than controls, though perceptual errors were always consistent with the patient's global understanding of the scene (whether correct or not). Experiment 3 used eye tracking measures to compare patient and control eye movements over initial and subsequent fixations of scenes. Patients' fixation patterns were significantly different to those of young and age-matched controls, with comparable group differences for both initial and subsequent fixations. Overall, these findings describe the variability in everyday scene perception exhibited by individuals with PCA, and indicate the importance of exposure duration in the perception of complex scenes.

  9. Scene perception in Posterior Cortical Atrophy: categorisation, description and fixation patterns

    Directory of Open Access Journals (Sweden)

    Timothy J Shakespeare

    2013-10-01

    Full Text Available Partial or complete Balint’s syndrome is a core feature of the clinico-radiological syndrome of posterior cortical atrophy (PCA, in which individuals experience a progressive deterioration of cortical vision. Although multi-object arrays are frequently used to detect simultanagnosia in the clinical assessment and diagnosis of PCA, to date there have been no group studies of scene perception in patients with the syndrome. The current study involved three linked experiments conducted in PCA patients and healthy controls. Experiment 1 evaluated the accuracy and latency of complex scene perception relative to individual faces and objects (colour and greyscale using a categorisation paradigm. PCA patients were both less accurate (facesdescription of real world scenes. PCA patients generated fewer features and more misperceptions than controls, though perceptual errors were always consistent with the patient’s global understanding of the scene (whether correct or not. Experiment 3 used eye tracking measures to compare patient and control eye movements over initial and subsequent fixations of scenes. Patients’ fixation patterns were significantly different to those of young and age-matched controls, with comparable group differences for both initial and subsequent fixations. Overall, these findings describe the variability in everyday scene perception exhibited by individuals with PCA, and indicate the importance of exposure duration in the perception of complex scenes.

  10. Redefining Borderline Syndromes as Posttraumatic and Rediscovering Emotional Containment as a First Stage in Treatment

    Science.gov (United States)

    Goodwin, Jean M.

    2005-01-01

    This brief review traces the evolution of clinical understanding about borderline syndromes during the last three decades of the 20th century. The focus shifted from descriptive phenomenology in the 1970s to documenting linkages with childhood trauma in the 1980s. In the 1990s, effective and teachable techniques for emotional containment in these…

  11. Burnout syndrome among undergraduate nursing students at a public university.

    Science.gov (United States)

    Tomaschewski-Barlem, Jamila Geri; Lunardi, Valéria Lerch; Lunardi, Guilherme Lerch; Barlem, Edison Luiz Devos; da Silveira, Rosemary Silva; Vidal, Danielle Adriane Silveira

    2014-01-01

    to investigate the burnout syndrome and its relationship with demographic and academic variables among undergraduate nursing students at a public university in Southern Brazil. a quantitative study with 168 students, by applying an adaptation of the Maslach Burnout Inventory - Student Survey, validated for this study. We used descriptive and variance analysis of the data analysis. we found that students do not have the burnout syndrome, manifesting high average scores in Emotional Exhaustion, low in Disbelief and high in Professional Effectiveness; that younger students who perform leisure activities have greater Professional Effectiveness, unlike students in early grades with no extracurricular activities; combining work and studies negatively influenced only the Professional Effectiveness factor, while the intention of giving up influenced negatively Disbelief and Professional Effectiveness factors. the situations that lead students to Emotional Exhaustion need to be recognized, considering the specificity of their study environments.

  12. Threatening auditory hallucinations and Cotard syndrome in Parkinson disease.

    Science.gov (United States)

    Factor, Stewart A; Molho, Eric S

    2004-01-01

    Psychotic symptoms are commonly reported in patients with Parkinson disease (PD). In particular, patients experience nonthreatening visual hallucinations that can occur with insight (so called hallucinosis) or without. Auditory hallucinations are uncommon, and schizophrenialike symptoms such as pejorative and threatening auditory hallucinations and delusions that are persecutory, referential, somatic, religious, or grandiose have rarely been reported. The authors present 2 PD patients who experienced threatening auditory hallucinations, without visual hallucinations, and schizophrenialike delusions with detailed description of the clinical phenomenology including 1 patient with Cotard syndrome.

  13. Chronic pain in hypermobility syndrome and Ehlers–Danlos syndrome (hypermobility type: it is a challenge

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    Scheper MC

    2015-08-01

    Full Text Available Mark C Scheper,1,2 Janneke E de Vries,1–3 Jeanine Verbunt,3,4 Raoul HH Engelbert1,2 1School of Physiotherapy, Amsterdam University of Applied Sciences, Amsterdam, 2Department of Rehabilitation, Academic Medical Center, University of Amsterdam, Amsterdam, 3Department of Rehabilitation Medicine, CAPHRI School for Public Health and Primary Care, Maastricht University, Maastricht; 4Adelante, Center of expertise in Rehabilitation and Audiology, Hoensbroek, the Netherlands Abstract: Generalized joint hypermobility (GJH is highly prevalent among patients diagnosed with chronic pain. When GJH is accompanied by pain in ≥4 joints over a period ≥3 months in the absence of other conditions that cause chronic pain, the hypermobility syndrome (HMS may be diagnosed. In addition, GJH is also a clinical sign that is frequently present in hereditary diseases of the connective tissue, such as the Marfan syndrome, osteogenesis imperfecta, and the Ehlers–Danlos syndrome. However, within the Ehlers–Danlos spectrum, a similar subcategory of patients having similar clinical features as HMS but lacking a specific genetic profile was identified: Ehlers–Danlos syndrome hypermobility type (EDS-HT. Researchers and clinicians have struggled for decades with the highly diverse clinical presentation within the HMS and EDS-HT phenotypes (Challenge 1 and the lack of understanding of the pathological mechanisms that underlie the development of pain and its persistence (Challenge 2. In addition, within the HMS/EDS-HT phenotype, there is a high prevalence of psychosocial factors, which again presents a difficult issue that needs to be addressed (Challenge 3. Despite recent scientific advances, many obstacles for clinical care and research still remain. To gain further insight into the phenotype of HMS/EDS-HT and its mechanisms, clearer descriptions of these populations should be made available. Future research and clinical care should revise and create consensus on the

  14. Antiphospholipid Syndrome: primary or secondary to Systemic Lupus Erythematosus? Description of a clinical case of avitaminosis D in premenopausal woman with pseudo-Cushing syndrome

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    Mauro Turrin

    2014-06-01

    Full Text Available Low vitamin D levels have been described in obese individuals and in some autoimmune diseases, such as Systemic Lupus Erythematosus (SLE and primary antiphospholipid syndrome (pAPS. In particular, more than 50% of premenopausal women with pAPS have hypovitaminosis D. In this issue we report a case of an obese, premenopausal, and hypertensive woman with pseudo-Cushing syndrome, affected by deep venous thrombosis associated with pulmonary embolism after rib fracture who presented hypovitaminosis D. 7 years before, diagnosis of pAPS had been made after the detection of thrombocytopenia (present at a young age and arterial ischemia of a lower limb. For seven years she was treated with acetylsalicylic acid without complications. We found positive anti-dsDNA antibodies, a triple antiphospholipid antibodies (aPL positivity and levels of vitamin D < 4 µg/l. The case report arises some questions: is vitamin D deficiency due to obesity or APS? Is the positivity of anti-dsDNA indicative of progression to SLE? Is preventive therapy with hydroxychloroquine indicated? Does the high-risk aPL profile justify a high-intensity and life-long anticoagulation regimen?http://dx.doi.org/10.7175/cmi.v8i2.912

  15. Maternal and paternal pragmatic speech directed to young children with Down syndrome and typical development.

    Science.gov (United States)

    de Falco, Simona; Venuti, Paola; Esposito, Gianluca; Bornstein, Marc H

    2011-02-01

    The aim of this study was to compare functional features of maternal and paternal speech directed to children with Down syndrome and developmental age-matched typically developing children. Altogether 88 parents (44 mothers and 44 fathers) and their 44 young children (22 children with Down syndrome and 22 typically developing children) participated. Parents' speech directed to children was obtained through observation of naturalistic parent-child dyadic interactions. Verbatim transcripts of maternal and paternal language were categorized in terms of the primary function of each speech unit. Parents (both mothers and fathers) of children with Down syndrome used more affect-salient speech compared to parents of typically developing children. Although parents used the same amounts of information-salient speech, parents of children with Down syndrome used more direct statements and asked fewer questions than did parents of typically developing children. Concerning parent gender, in both groups mothers used more language than fathers and specifically more descriptions. These findings held controlling for child age and MLU and family SES. This study highlights strengths and weaknesses of parental communication to children with Down syndrome and helps to identify areas of potential improvement through intervention. Copyright © 2010 Elsevier Inc. All rights reserved.

  16. Holiday Heart Syndrome Revisited after 34 Years

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    Tonelo, David [Faculty of Medicine, University of Coimbra, Coimbra (Portugal); Providência, Rui, E-mail: rui-providencia@yahoo.com; Gonçalves, Lino [Faculty of Medicine, University of Coimbra, Coimbra (Portugal); Coimbras Hospital Centre and University, Coimbra (Portugal)

    2013-01-01

    The cardiovascular effects of alcohol are well known. However, most research has focused on the beneficial effects (the 'French paradox') of moderate consumption or the harmful consequences, such as dilated cardiomyopathy, associated with heavy consumption over an extended period. An association between the ingestion of acute alcohol and onset of cardiac arrhythmias was first reported in the early 70's. In 1978, Philip Ettinger described 'Holiday heart syndrome' (HHS) for the first time, as the occurrence, in healthy people without heart disease known to cause arrhythmia, of an acute cardiac rhythm disturbance, most frequently atrial fibrillation, after binge drinking. The name is derived from the fact that episodes were initially observed more frequently after weekends or public holidays. Since the original description of HHS, 34 years have passed and new research in this field has increased the volume of knowledge related to this syndrome. Throughout this paper the authors will comprehensively review most of the available data concerning HHS and highlight the questions that remain unresolved.

  17. Holiday Heart Syndrome Revisited after 34 Years

    International Nuclear Information System (INIS)

    Tonelo, David; Providência, Rui; Gonçalves, Lino

    2013-01-01

    The cardiovascular effects of alcohol are well known. However, most research has focused on the beneficial effects (the 'French paradox') of moderate consumption or the harmful consequences, such as dilated cardiomyopathy, associated with heavy consumption over an extended period. An association between the ingestion of acute alcohol and onset of cardiac arrhythmias was first reported in the early 70's. In 1978, Philip Ettinger described 'Holiday heart syndrome' (HHS) for the first time, as the occurrence, in healthy people without heart disease known to cause arrhythmia, of an acute cardiac rhythm disturbance, most frequently atrial fibrillation, after binge drinking. The name is derived from the fact that episodes were initially observed more frequently after weekends or public holidays. Since the original description of HHS, 34 years have passed and new research in this field has increased the volume of knowledge related to this syndrome. Throughout this paper the authors will comprehensively review most of the available data concerning HHS and highlight the questions that remain unresolved

  18. Laron syndrome (primary growth hormone resistance or insensitivity): the personal experience 1958-2003.

    Science.gov (United States)

    Laron, Zvi

    2004-03-01

    Clinical and laboratory investigations starting in 1958 of a group of dwarfed children resembling isolated GH deficiency but who had very high serum levels of GH led to the description of the syndrome of primary GH resistance or insensitivity (Laron syndrome) and subsequently to the discovery of its molecular defects residing in the GH receptor and leading to an inability of IGF-I generation. With the biosynthesis of IGF-I in 1986, therapeutic trials started. Continuously more and more patients are being diagnosed in many parts of the world with a variety of molecular defects. This syndrome proved to be a unique model that enables the study of the consequences of GH receptor defects, the physiopathology of GH-IGF-I disruption, and comparison of the GH-independent IGF-I effects. This review presents the personal experience gained from the study follow-up and treatment of the 60 patients followed up for many years in the Israeli cohort.

  19. Serotonin syndrome

    Science.gov (United States)

    Hyperserotonemia; Serotonergic syndrome; Serotonin toxicity; SSRI - serotonin syndrome; MAO - serotonin syndrome ... brain area. For example, you can develop this syndrome if you take migraine medicines called triptans together ...

  20. 17q12 microdeletion syndrome: three patients illustrating the phenotypic spectrum.

    Science.gov (United States)

    Dixit, Abhijit; Patel, Chirag; Harrison, Rachel; Jarvis, Joanna; Hulton, Sally; Smith, Nigel; Yates, Katherine; Silcock, Lee; McMullan, Dominic J; Suri, Mohnish

    2012-09-01

    Deletions of 17q12 are associated with renal cysts and maturity onset diabetes of the young, and have also been identified in women with reproductive tract anomalies due to Mullerian aplasia. Although initially identified in patients with normal cognitive ability, some patients with this recurrent microdeletion syndrome have learning problems. We identified a 17q12 microdeletion in three patients with renal cystic disease by array comparative genomic hybridization and the phenotypic spectrum of the 17q12 microdeletion syndrome is illustrated by the description of these patients. Of two patients who are old enough to be assessed, one has significant speech delay, autism spectrum disorder, and mild learning difficulty, while the other patient has only mild speech delay. This highlights the variability of cognitive involvement in this condition. The third patient presented with Alagille syndrome-like features in the neonatal period. All three patients had transient hypercalcemia in the neonatal period, a finding that has not previously been described in this condition. Moreover, two patients have mild or no dysmorphism, while one displays striking facial dysmorphism in addition to minor congenital anomalies. We suggest that while patients with 17q12 microdeletion syndrome can present with type 2 diabetes or renal cysts without any dysmorphic features, a subgroup may have dysmorphic features or present with neonatal cholestasis. Transient neonatal hypercalcemia may be a feature of this microdeletion syndrome. Copyright © 2012 Wiley Periodicals, Inc.

  1. Relato de caso: anestesia em paciente portador de distrofia torácica asfixiante: Síndrome de Jeune

    Directory of Open Access Journals (Sweden)

    Deise Saletti

    2012-06-01

    Full Text Available JUSTIFICATIVA E OBJETIVOS: Síndrome de Jeune, ou Distrofia Torácica Asfixiante, é uma doença autossômica recessiva. Esta síndrome é caracterizada por uma displasia óssea com variadas anormalidades: torácica, pancreática, cardíaca, hepática, renal e da retina. A idade em que o quadro clínico dos pacientes se apresenta está correlacionada com a gravidade da doença. Esses pacientes apresentam policondrodistrofia com costelas largas, curtas, horizontais e junções costocondrais irregulares levando a uma caixa torácica rígida e reduzida com grau de injúria respiratória variado. RELATO DO CASO: Paciente do sexo masculino, 4 meses, 7 kg, portador de Distrofia Torácica Asfixiante. Apresentava-se intubado e com caixa torácica reduzida. Ecocardiograma: hipertensão pulmonar leve. Tomografia de tórax: hipoplasia pulmonar. Submetido à toracoplastia bilateral e toracotomia sob anestesia geral. Manutenção da anestesia: infusão contínua de sufentanil e sevoflurano. Parâmetros ventilatórios: ventilação mecânica ciclada à pressão. Com a abertura do tórax, houve melhora dos parâmetros ventilatórios e, após o posicionamento da prótese torácica, observou-se limitação ventilatória. Decidiu-se pela diminuição da prótese torácica com consequente melhora da ventilação. CONCLUSÕES: É imprescindível o diagnóstico de todas as anormalidades presentes para o correto manejo anestésico. Foi necessária observação para adequar ventilação pré- e pós-toracotomia/toracoplastia e para manter o paciente hemodinamicamente estável. A forma mais adequada para ventilação mecânica é a ciclada à pressão para vencer a barreira mecânica. No intraoperatório, é desejável manter o pico de pressão inspiratória o mais baixo possível para minimizar o risco de barotrauma, de impedimento do retorno venoso e diminuição do débito cardíaco.

  2. [Association Budd Chiari syndrome, antiphospholipid syndrome and Grave's disease].

    Science.gov (United States)

    Mouelhi, Leila; Chaieb, Mouna; Debbeche, Radhouane; Salem, Mohamed; Sfar, Imene; Trabelsi, Sinda; Gorgi, Yosr; Najjar, Taoufik

    2009-02-01

    Antiphospholipid syndrome is revealed by Budd Chiari syndrome in 5% of the cases. Antiphospholipid syndrome is characterized by venous or arterial thrombosis, foetal loss and positivity of antiphospholipid antibodies, namely lupus anticoagulant, anticardiolipin antibodies and anti-beta2-glycoprotein I. Anticardiolipin antibodies was reported in auto-immune thyroid disorders, particularly in Grave's disease. Antiphospholipid syndrome associated to Grave's disease was reported in only three cases. To describe a case report of association of Grave's disease and antiphospholipid syndrome. We report the first case of Grave's disease associated with antiphospholipid syndrome, revealed by Budd Chiari syndrome. Our observation is particular by the fact that it is about a patient presenting a Grave's disease associated with antiphospholipid syndrome revealed by Budd Chiari syndrome. This triple association has never been reported in literature. Although association between antiphospholipid syndrome and Grave's disease was previously described, further studies evaluating the coexistence of these two affections in the same patient would be useful.

  3. Duane Syndrome

    Science.gov (United States)

    ... Frequently Asked Questions Español Condiciones Chinese Conditions Duane Syndrome En Español Read in Chinese What is Duane Syndrome? Duane syndrome, also called Duane retraction syndrome (DRS), ...

  4. [Schedule for evaluation of the deficit syndrome in schizophrenia: Schedule for Deficit Syndrome (SDS) (Kirkpatrick et al.). Importance pertinence of the SDS. Introduction of the French version].

    Science.gov (United States)

    Ribeyre, J M; Dollfus, S; Lesieur, P; Ménard, J F; Petit, M

    1994-01-01

    The negative symptoms of schizophrenia have generated a great interest leading some authors (Crow, Andreasen, Kay) to delineate schizophrenic subtypes based on their presence or absence. Carpenter et al. have recently proposed another subtype, the deficit syndrome, based on Kraepelin's clinical description. This differs from other proposed negative subtypes and refers to the presence or absence of prominent, enduring and primary negative symptoms. Primary negative symptoms have to be due to psychophrenia itself, in other words, independent of factors such as depression, anxiety, akinesia... Kirkpatrick et al. have proposed the Schedule for the Deficit Syndrome (SDS) to reliably identify this deficit syndrome. Some studies using this instrument have supported the validity of the deficit syndrome concept. Particularly, deficit patients have clinical, neuropsychological, neurological, eye-tracking and brain imaging impairments compared to nondeficit patients. We realized a french translation of SDS and used it to study a biological index (plasma homovanillic acid, pHVA) among deficit and nondeficit schizophrenic patients. Our data suggest a specific biochemical basis for the deficit syndrome, ie, significant lower mean pHVA levels with a lack of diurnal variation for deficit patients. The french version of SDS was validated by Kirkpatrick after english back translation. We present here our psychometric data regarding reliability (assessed by weighted and unweighted kappa coefficients) and cohesiveness of the construct (assessed by rank-order correlations of each negative symptoms with the other five, using Spearman's rho). These data are quite significant and in agreement with the SDS authors.

  5. Geomyces destructans sp. nov. associated with bat white-nose syndrome

    Science.gov (United States)

    Gargas, Andrea; Trest, M.T.; Christensen, M.; Volk, T.J.; Blehert, David S.

    2009-01-01

    We describe and illustrate the new species Geomyces destructans. Bats infected with this fungus present with powdery conidia and hyphae on their muzzles, wing membranes, and/or pinnae, leading to description of the accompanying disease as white-nose syndrome, a cause of widespread mortality among hibernating bats in the northeastern US. Based on rRNA gene sequence (ITS and SSU) characters the fungus is placed in the genus Geomyces, yet its distinctive asymmetrically curved conidia are unlike those of any described Geomyces species.

  6. [Asperger's syndrome, little teachers: special skills].

    Science.gov (United States)

    Etchepareborda, M C; Díaz-Lucero, A; Pascuale, M J; Abad-Mas, L; Ruiz-Andrés, R

    2007-03-02

    Asperger's syndrome (AS) is characterised by its effects on reciprocal social interaction, verbal and non-verbal communication, difficulty in accepting changes, inflexible thinking and reduced fields of interest, but also by the presentation of special skills. On the occasion of the centenary of the birth of Hans Asperger, we briefly review the history of this researcher and offer a short description of the clinical features of the condition, including social interaction, communication, limited concerns and interests, routines and inflexibility, which are key points when it comes to reaching a diagnosis. Later, we also focus on Savant syndrome, which is a very common subgroup within AS and which is characterised by the patient's outstanding ability is certain special skills, such as hypermnesia, hyperlexia and hypercalculia, in mental feats concerning the perpetual calendar and in several branches of the arts, such as drawing, painting, sculpture and music. We discuss several famous cases of savants and explain some of the theories about its pathophysiology. Having special skills is a distinguishing mark of AS and identifying and facilitating them would provide us with a potential tool with which to accomplish suitable job opportunities.

  7. Adult-onset opsoclonus-myoclonus-ataxia syndrome as a manifestation of brazilian lyme disease-like syndrome: a case report and review of literature

    Directory of Open Access Journals (Sweden)

    Angelina Maria Martins Lino

    2014-03-01

    Full Text Available Described in 1962, the opsoclonus-myoclonus-ataxia syndrome (OMAS is a rare, neurologically debilitating disorder with distinct characteristics that may begin in childhood or adult life. Although many cases remain without etiological diagnosis, others are related to neoplasms and infectious diseases. We report a 41-year-old previously healthy male with an 8-day history of headache, vertigo, nausea, vomiting, and nystagmus. After a normal brain computed tomography and lymphocytic pleocytosis in cerebral spinal fluid (CSF, intravenous acyclovir therapy was initiated in the emergency room. On the third day of hospitalization, the diagnosis of OMAS was made based on the presence of chaotic and irregular eye movements, dysarthric speech, gait instability, generalized tremor, and myoclonic jerks. In the face of his neurological worsening, ampicillin followed by nonspecific immunotherapy (methylprednisolone and intravenous immunoglobulin was prescribed, with mild clinical improvement. After a thorough laboratory workup, the definite diagnosis of neuroborreliosis was established and ceftriaxone (4 g/daily/3wks and doxycycline (200 mg/day/2 mo was administered. Toward the end of the ceftriaxone regimen, the neurologic signs substantially improved. We believe this to be the first case description of OMAS as clinical presentation of Brazilian Lyme disease-like syndrome (Baggio-Yoshinari syndrome.

  8. Wells syndrome and its relationship to Churg-Strauss syndrome.

    Science.gov (United States)

    Ratzinger, Gudrun; Zankl, Julia; Zelger, Bernhard

    2013-08-01

      Wells syndrome has been described as an inflammatory disorder based on typical clinical appearance combined with the histopathological presence of eosinophilic infiltrates and flame figures in the absence of vasculitis. Churg-Strauss syndrome, on the other hand, is primarily a diffuse, necrotizing vasculitis but is also typically displaying eosinophils and flame figures. Despite several parallels, the present understanding of these two diseases excludes any pathogenetic relationship.   We describe the clinical course and histopathological appearance of three patients who had initially been diagnosed with Wells syndrome that developed into Churg-Strauss syndrome during the course of their disease.   The clinical presentation of all three patients led to the diagnosis of Wells syndrome by independent specialists. Histopathology showed an eosinophilic infiltrate and flame figures next to features of leukocytoclastic vasculitis. Detailed examination revealed asthma bronchiale and additional symptoms indicating Churg-Strauss syndrome. The initial diagnosis of Wells syndrome had to be revised to Churg-Strauss syndrome.   We conclude that Wells syndrome could be the starting point of a pathogenetic process that might reach its maximum in Churg-Strauss syndrome. As a clinical consequence, patients with Wells syndrome should be evaluated and followed for Churg-Strauss syndrome. © 2013 The International Society of Dermatology.

  9. Neuro-behavioral profile and brain imaging study of the 22q13.3 deletion syndrome in childhood

    International Nuclear Information System (INIS)

    Philippe, A.; Malan, V.; De Blois, M.C.; Colleaux, L.; Munnich, A.; Philippe, A.; De Blois, M.C.; Colleaux, L.; Munnich, A.; Boddaert, N.; Vaivre-Douret, L.; Robel, L.; Golse, B.; Vaivre-Douret, L.; Vaivre-Douret, L.; Danon-Boileau, L.; Heron, D.

    2008-01-01

    The 22q13.3 deletion syndrome (Online Mendelian Inheritance in Man No. 606232) is a neuro-developmental disorder that includes hypotonia, severely impaired development of speech and language, autistic-like behavior, and minor dysmorphic features. Although the number of reported cases is increasing, the 22q13.3 deletion remains under-diagnosed because of failure in recognizing the clinical phenotype and detecting the 22qter deletion by routine chromosome analyses. Our goal is to contribute to the description of the neuro-behavioral phenotype and brain abnormalities of this micro-deletional syndrome. We assessed neuro-motor, sensory, language, communication, and social development and performed cerebral MRI and study of regional cerebral blood flow measured by positron emission tomography in 8 children carrying the 22q13.3 deletion. Despite variability in expression and severity, the children shared a common developmental profile characterized by hypotonia, sleep disorders, and poor response to their environment in early infancy; expressive language deficit contrasting with emergence of social reciprocity from ages similar to 3 to 5 years; sensory processing dysfunction; and neuro-motor disorders. Brain MRI findings were normal or showed a thin or morphologically atypical corpus callosum. Positron emission tomography study detected a localized dysfunction of the left temporal polar lobe and amygdala hypoperfusion. The developmental course of the 22q13.3 deletion syndrome belongs to pervasive developmental disorders but is distinct from autism. An improved description of the natural history of this syndrome should help in recognizing this largely under-diagnosed condition. (authors)

  10. Neuro-behavioral profile and brain imaging study of the 22q13.3 deletion syndrome in childhood

    Energy Technology Data Exchange (ETDEWEB)

    Philippe, A; Malan, V; De Blois, M C; Colleaux, L; Munnich, A [Hop Necker Enfants Malad, Assistance Publ Hop Paris, Natl Inst Hlth and Med Res, Paris (France); Philippe, A; De Blois, M C; Colleaux, L; Munnich, A [HopNecker Enfants Malad, Assistance Publ Hop Paris, Dept Genet, Paris (France); Boddaert, N [Natl Inst Hlth and Med Res, Mixed Unit Res 0205, Orsay (France); Vaivre-Douret, L; Robel, L; Golse, B [Hop Necker Enfants Malad, Assistance Publ Hop Paris, Dept Psychiat, Paris (France); Vaivre-Douret, L [Univ Paris 10, Mixed Unit Res S0669, Univ Paris 05, Univ Paris 11, Paris 10 (France); Vaivre-Douret, L [Assistance Publ Hop Paris, Dept Obstet et Gynaecol, Paris (France); Danon-Boileau, L [Natl Ctr Sci Res, Mixed Unit Res 7114, Paris (France); Heron, D [Hop La Pitie Salpetriere, Assistance Publ HopParis, Dept Genet, Paris (France)

    2008-07-01

    The 22q13.3 deletion syndrome (Online Mendelian Inheritance in Man No. 606232) is a neuro-developmental disorder that includes hypotonia, severely impaired development of speech and language, autistic-like behavior, and minor dysmorphic features. Although the number of reported cases is increasing, the 22q13.3 deletion remains under-diagnosed because of failure in recognizing the clinical phenotype and detecting the 22qter deletion by routine chromosome analyses. Our goal is to contribute to the description of the neuro-behavioral phenotype and brain abnormalities of this micro-deletional syndrome. We assessed neuro-motor, sensory, language, communication, and social development and performed cerebral MRI and study of regional cerebral blood flow measured by positron emission tomography in 8 children carrying the 22q13.3 deletion. Despite variability in expression and severity, the children shared a common developmental profile characterized by hypotonia, sleep disorders, and poor response to their environment in early infancy; expressive language deficit contrasting with emergence of social reciprocity from ages similar to 3 to 5 years; sensory processing dysfunction; and neuro-motor disorders. Brain MRI findings were normal or showed a thin or morphologically atypical corpus callosum. Positron emission tomography study detected a localized dysfunction of the left temporal polar lobe and amygdala hypoperfusion. The developmental course of the 22q13.3 deletion syndrome belongs to pervasive developmental disorders but is distinct from autism. An improved description of the natural history of this syndrome should help in recognizing this largely under-diagnosed condition. (authors)

  11. Goldenhar Syndrome in Association with Duane Syndrome

    Directory of Open Access Journals (Sweden)

    U D Shrestha

    2012-03-01

    Full Text Available Goldenhar syndrome (GHS is also known as Oculo-Auriculo-Vertebral (OAV syndrome or Branchial arch syndrome. Duane retraction syndrome (DRS is a congenital disorder of ocular motility characterized by limited abduction, adduction or both. It is unilateral in 80% of cases. The important and interesting part of this eight months old child is presence of GHS with DRS. She has bilateral invol-vement, which is seen in only 5-8% of GHS, as compared to high incidence of unilateral involve-ment. This child also had refractive error of + 6.00/ - 1.5 * 180. At four year of age her vision with glass was 6/9. Children with GHS and DRS should have early eye examination done to treat the problem of refractive error. Keywords: Duane retraction syndrome; goldenhar syndrome, refractive error.

  12. Magnetic resonance imaging of the liver in postpartum stable women with HELLP syndrome

    International Nuclear Information System (INIS)

    Carvalho, Ana Rita Marinho Ribeiro; Amorim, Melania Maria Ramos de; Katz, Leila; Souza, Alex Sandro Rolland de; Santos, Aleksana Regina Viana Dutra; Lima, Ana Luiza Medeiros Vasconcelos de

    2008-01-01

    Objectives: To describe magnetic resonance (MR) findings in the liver of stable patients with HELLP syndrome in the puerperium. Methods: A descriptive study was carried out from August 2005 to July 2006, involving a series of 40 postpartum patients admitted to an obstetric intensive therapy unit in IMIP (Instituto Materno Infantil Prof. Fernando Figueira) with diagnosis of HELLP syndrome (complete and partial). Complete HELLP syndrome was defined when all laboratory parameters were present and incomplete when one or more but not all laboratory findings were present. All patients had stable clinical conditions and were evaluated with magnetic resonance of the liver and the main findings were recorded. Results. Average maternal age was 26.8 ± 6.4 years and gestational age at delivery was 34 ± 26.8 weeks. The MR imaging was performed between eight and 96 hours after diagnosis of HELLP syndrome (56 ± 31h). The most frequent findings were ascitis in 20% (n = 8), pleural effusion in 17.5% and hepatic steatosis in 7.5%. The periportal intensity signal was normal in all cases. Cases of liver infarction and sub-capsular or parenchymatous hematoma were not observed. Conclusion: Findings of magnetic resonance imaging of the liver in stable HELLP syndrome postpartum patients were few and unspecific. Severe liver injuries such as parenchymatous or sub-capsular hematoma, entailing life risk were not found. Results do not corroborate the use of magnetic resonance as routine examination for stable patients with HELLP syndrome. (author)

  13. The Prevalence of Job Stress and its Relationship with Burnout Syndrome among the Academic Members of Lorestan University of Medical Sciences.

    Science.gov (United States)

    Nazari, Hedayat; Jariani, Mojgan; Beiranvand, Shorangiz; Saki, Mandana; Aghajeri, Nasrin; Ebrahimzadeh, Farzad

    2016-03-01

    Burnout syndrome is one of the consequences and the results of occupational or job stress emerged in the form of emotional exhaustion feeling, depersonalization and decrement personal accomplishment. The aim of this study was to determine the occupational stress and its relationship with burnout syndrome in the academic members of Lorestan University of Medical Sciences. This descriptive cross-sectional survey was conducted on 111 of the faculty members via multistage sampling. Data were collected by the questionnaire of Maslach Burnout Inventory (MBI), and Osipow Occupational Stress Inventory (OSI- R). Data were analyzed by using descriptive statistics as well as analytical statistics such as chi square, Kruskal-Wallis, Mann Whitney tests and Pearson correlation coefficient. The results showed that the most of the participants had a low level of burnout three dimensions including emotional burnout (72.1%), depersonalization (81.1%), and the decrement of personal accomplishment (56.8%). Moreover 79.3% of samples had a low occupational stress, but there was a meaningful relationship between occupational stress and dimensions of burnout syndrome with an exception for the intensity of decrement of personal accomplishment. Academic members were in an appropriate condition concerning burnout syndrome and occupational stress. However by applying some strategies to decrease stress and determining stress resources, we can improve their psychological health of academic members.

  14. The Prevalence of Job Stress and its Relationship with Burnout Syndrome among the Academic Members of Lorestan University of Medical Sciences

    Science.gov (United States)

    Nazari, Hedayat; Jariani, Mojgan; Beiranvand, Shorangiz; Saki, Mandana; Aghajeri, Nasrin; Ebrahimzadeh, Farzad

    2016-01-01

    Introduction: Burnout syndrome is one of the consequences and the results of occupational or job stress emerged in the form of emotional exhaustion feeling, depersonalization and decrement personal accomplishment. The aim of this study was to determine the occupational stress and its relationship with burnout syndrome in the academic members of Lorestan University of Medical Sciences. Methods: This descriptive cross-sectional survey was conducted on 111 of the faculty members via multistage sampling. Data were collected by the questionnaire of Maslach Burnout Inventory (MBI), and Osipow Occupational Stress Inventory (OSI- R). Data were analyzed by using descriptive statistics as well as analytical statistics such as chi square, Kruskal-Wallis, Mann Whitney tests and Pearson correlation coefficient. Results: The results showed that the most of the participants had a low level of burnout three dimensions including emotional burnout (72.1%), depersonalization (81.1%), and the decrement of personal accomplishment (56.8%). Moreover 79.3% of samples had a low occupational stress, but there was a meaningful relationship between occupational stress and dimensions of burnout syndrome with an exception for the intensity of decrement of personal accomplishment. Conclusion: Academic members were in an appropriate condition concerning burnout syndrome and occupational stress. However by applying some strategies to decrease stress and determining stress resources, we can improve their psychological health of academic members. PMID:26989668

  15. The Prevalence of Job Stress and its Relationship with Burnout Syndrome among the Academic Members of Lorestan University of Medical Sciences

    Directory of Open Access Journals (Sweden)

    Hedayat Nazari

    2016-03-01

    Full Text Available Introduction: Burnout syndrome is one of the consequences and the results of occupational or job stress emerged in the form of emotional exhaustion feeling, depersonalization and decrement personal accomplishment. The aim of this study was to determine the occupational stress and its relationship with burnout syndrome in the academic members of Lorestan University of Medical Sciences. Methods: This descriptive cross-sectional survey was conducted on 111 of the faculty members via multistage sampling. Data were collected by the questionnaire of Maslach Burnout Inventory (MBI, and Osipow Occupational Stress Inventory (OSI- R. Data were analyzed by using descriptive statistics as well as analytical statistics such as chi square, Kruskal-Wallis, Mann Whitney tests and Pearson correlation coefficient. Results: The results showed that the most of the participants had a low level of burnout three dimensions including emotional burnout (72.1%, depersonalization (81.1%, and the decrement of personal accomplishment (56.8%. Moreover 79.3% of samples had a low occupational stress, but there was a meaningful relationship between occupational stress and dimensions of burnout syndrome with an exception for the intensity of decrement of personal accomplishment. Conclusion: Academic members were in an appropriate condition concerning burnout syndrome and occupational stress. However by applying some strategies to decrease stress and determining stress resources, we can improve their psychological health of academic members.

  16. Fanconi syndrome

    Science.gov (United States)

    De Toni-Fanconi syndrome ... Fanconi syndrome can be caused by faulty genes, or it may result later in life due to kidney damage. Sometimes the cause of Fanconi syndrome is unknown. Common causes of Fanconi syndrome in ...

  17. Quality of life, general health status and related factors in women of polycystic ovary syndrome in Yazd (IRAN 2014

    Directory of Open Access Journals (Sweden)

    Farzaneh Ebrahimi

    2016-07-01

    Full Text Available polycystic ovary syndrome leads to augmentation of behavioral disorders among women and the affects their quality of life. The present study is being carried out in order to assess the quality of life and the level of general health in women suffering polycystic ovary syndrome in Baghayipour Treatment Center customers in the city of Yazd in IRAN 2013-14 and its relevant factors. This descriptive-analytical study has been done in a cross-sectional method during nine months on seventy three women who were suffering polycystic ovary syndrome through convenience sampling technique. For data collection PCOSQ and GHQ-28 surveys are used. Factors to enter the study involve the age range of 15-49, affliction with PCO, satisfaction of taking part in a study and the factors for leaving it including being affected with galactorrhoea (i.e. automatic lactation from breasts, thyroid problems, Cushing syndrome or the consumers of corticosteroid drugs. The data were analyzed by means of SPSS software and the descriptive statistics tests and regression. The results of descriptive statistics tests indicated that the average age of 26.28± 5.59 years, body mass index (BMI of 28.09 ± 5.06, %5.5 of the participants are illiterate, %17.8 of them are people with less than high school diploma, %24.7 have high school diploma degree, and %52.1 of them have university degrees. The average score for the quality of life among women was 111.36 ± 21.39 as well. The greatest factor influencing the quality of life according to the achieved score in these patients were menstruation problems, hirsutism, emotional problems, weight, and finally infertility respectively. By means of regression test there was a meaningful statistical correlation with significance level value of (p<0.05 between the quality of life with BMI, number of pregnancy, intervals between menstruation cycles, and the extent of satisfaction with body image. Polycystic ovary syndrome has a negative impact on

  18. OCULO-CEREBRO-RENAL SYNDROME (LOWE'S SYNDROME)

    Institute of Scientific and Technical Information of China (English)

    无

    1991-01-01

    Oculo-cerebro-renal syndrome (Lowe's syndrome) is characterized by mental and motor retardation, cataract, glaucoma and renal abnormalities. It is an X-linked recessive metabolic disease. Two brothers suffering from Lowe's syndrome are reported. Their mother with lenticular opacities and peculiar facial appearance is in concordance with the obligate carrier. The ocular changes and heridity are discussed.

  19. Neurofibromatosis-Noonan syndrome or LEOPARD Syndrome? A clinical dilemma.

    Directory of Open Access Journals (Sweden)

    Tullu M

    2000-04-01

    Full Text Available Neurofibromatosis (NF, Noonan syndrome (NS, and LEOPARD syndrome are all autosomal dominant conditions, each being a distinct clinical entity by itself. Rarely, one encounters cases with features of NF and NS and is termed as the ′Neurofibromatosis-Noonan syndrome′ (NF-NS. The authors report a clinical dilemma with major clinical features of the NF-NS syndrome and LEOPARD syndrome co-existing in the same patient. Also, features of Noonan syndrome and LEOPARD syndrome are compared with the case reported.

  20. The Basic Nature of Ethical Problems Experienced by Persons with Acquired Immunodeficiency Syndrome: Implications for Nursing Ethics Education and Practice.

    Science.gov (United States)

    Cameron, Miriam E.; And Others

    1993-01-01

    Twenty-five persons with acquired immunodeficiency syndrome (AIDS) described and validated 100 ethical problems that are experienced by people with AIDS from 3 levels of ethical inquiry: descriptive ethics, normative ethics, and metaethics. Findings suggest strategies for improving nursing ethics education. (JOW)

  1. Hippotherapy and respiratory muscle strength in children and adolescents with Down syndrome

    Directory of Open Access Journals (Sweden)

    Valéria Sovat de Freitas Costa

    Full Text Available Introduction Individuals with Down syndrome may have decreased respiratory muscle strength due to hypotonia, a common characteristic in this population. Objective To analyze the effects of a hippotherapy program on respiratory muscle strength in individuals with Down syndrome. Materials and methods The study included 41 subjects, 20 of which were in the hippotherapy practicing group (PG and 21 of which were in the non-practicing group (NPG. Study subjects were of both sexes, aged 7-13 years, and all diagnosed with Down syndrome. A manovacuometer was used to measure respiratory muscle strength, following the protocol proposed by Black and Hyatt (23. Statistical analysis was performed by means of descriptive distribution. After verifying normality and homoscedasticity of the variables, the Mann-Whitney test was used to determine differences between the means of the two groups (PG and NPG, and the Spearman’s rank correlation coefficient test was used to view possible relationships with age and time practicing hippotherapy. Significance was set at p < 0.05. Results and discussion Individuals who practiced hippotherapy showed improvements in both inspiratory and expiratory respiratory muscle strength, although no significant difference was demonstrated. Conclusion This study demonstrates that hippotherapy benefits respiratory muscle strength in individuals with Down syndrome, and that the youngest subjects had the best results.

  2. [Burnout syndrome in teachers from two universities in Popayán, Colombia].

    Science.gov (United States)

    Correa-Correa, Zamanda; Muñoz-Zambrano, Isabel; Chaparro, Andrés F

    2010-08-01

    Evaluating professional exhaustion or burnout syndrome: background, syndrome and consequences amongst half-time and full-time staff working in two private universities in the city of Popayán during 2008. The study population included 44 male and female participants aged 20 to 40 who were evaluated by using a brief burnout questionnaire (BBQ). This questionnaire had been validated for Latin-American and for teachers. It was not exclusively focused on the structure of the syndrome itself but rather included background elements and consequences. The study was quantitative and cross-sectional, having a deductive hypothetical methodological focus. Descriptive statistics and the Chi-square test were used for data analysis, accepting pteachers had developed negative attitudes and were insensitive to those receiving their services) and 15.9 % and 9.1 % frequencies for high physical and social consequences, respectively. Bivariate analysis revealed significant association of several factors. The results indicated low burnout syndrome frequency in this population. However, factors which were highly associated with physical and social consequences were: being male, aged 20 to 40, having a marital relationship with a habitual partner, working full-time, working at home and spending more than 75 % of the working day interacting with the beneficiaries of the services being provided.

  3. Écrits sur le corps : Genre, colonialisme et espace public dans l’affaire Maria Hertogh (1950. Master 2 d’histoire contemporaine, EHESS, (dir. Laura L. Downs, 2010

    Directory of Open Access Journals (Sweden)

    Christina Wu

    2011-10-01

    Full Text Available Le 3 août 1950, la colonie de Singapour s'éveille sous une avalanche de reportages relatant le mariage discret d'une jeune néerlandaise de 13 ans avec un musulman malais de 22 ans. L'opinion publique est scandalisée par le jeune âge de la mariée. Maria Hertogh, la jeune fille en question, est déjà en fait sous le feu des projecteurs depuis que sa famille catholique hollandaise et sa mère adoptive musulmane malaise se disputent son droit de garde. Cette nouvelle avive donc les tensions déjà ex...

  4. Burnout syndrome among undergraduate nursing students at a public university

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    Jamila Geri Tomaschewski-Barlem

    2014-12-01

    Full Text Available OBJECTIVE: to investigate the burnout syndrome and its relationship with demographic and academic variables among undergraduate nursing students at a public university in Southern Brazil.METHOD: a quantitative study with 168 students, by applying an adaptation of the Maslach Burnout Inventory - Student Survey, validated for this study. We used descriptive and variance analysis of the data analysis.RESULTS: we found that students do not have the burnout syndrome, manifesting high average scores in Emotional Exhaustion, low in Disbelief and high in Professional Effectiveness; that younger students who perform leisure activities have greater Professional Effectiveness, unlike students in early grades with no extracurricular activities; combining work and studies negatively influenced only the Professional Effectiveness factor, while the intention of giving up influenced negatively Disbelief and Professional Effectiveness factors.CONCLUSION: the situations that lead students to Emotional Exhaustion need to be recognized, considering the specificity of their study environments.

  5. 1C-INDUCED ATRIAL FLUTTER IN A PATIENT WITH WPW SYNDROME: CASE REPORT AND REVIEW

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    R. R. Mamatkazina

    2015-12-01

    Full Text Available The clinical case of a rare proarrhythmic effect of antiarrhythmic drugs with a poor prognosis (medication-induced atrial flutter in a patient with "malignant" Kent’s bundle is presented. Radiofrequency ablation (RFA is the most justified treatment method in patients with WPW-syndrome and "malignant" Kent’s bundle. RFA in descripted case has been postponed due to technical reasons. While waiting for RFA and after consideration of the potential risks and benefits the decision to use antiarrhythmic drugs to block the additional bundle was made. Paroxysm of broad-complex tachycardia developed on the third day of the treatment. It was regarded as a paroxysm of atrial fibrillation/flutter in the patient with WPW syndrome induced by taking antiarrhythmic drugs class 1C (allapinine. Review of the literature on the atrial fibrillation induced by antiarrhythmic of 1C class, and association of atrial fibrillation with WPW-syndrome is presented.

  6. 1C-INDUCED ATRIAL FLUTTER IN A PATIENT WITH WPW SYNDROME: CASE REPORT AND REVIEW

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    R. R. Mamatkazina

    2012-01-01

    Full Text Available The clinical case of a rare proarrhythmic effect of antiarrhythmic drugs with a poor prognosis (medication-induced atrial flutter in a patient with "malignant" Kent’s bundle is presented. Radiofrequency ablation (RFA is the most justified treatment method in patients with WPW-syndrome and "malignant" Kent’s bundle. RFA in descripted case has been postponed due to technical reasons. While waiting for RFA and after consideration of the potential risks and benefits the decision to use antiarrhythmic drugs to block the additional bundle was made. Paroxysm of broad-complex tachycardia developed on the third day of the treatment. It was regarded as a paroxysm of atrial fibrillation/flutter in the patient with WPW syndrome induced by taking antiarrhythmic drugs class 1C (allapinine. Review of the literature on the atrial fibrillation induced by antiarrhythmic of 1C class, and association of atrial fibrillation with WPW-syndrome is presented.

  7. LEOPARD syndrome is not linked to the Marfan syndrome and the Watson syndrome loci

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    Rass-Rothchild, A.: Abeliovitch, D.; Kornstein, A. [Tel Aviv Univ. (Israel)]|[Hebrew Univ., Jerusalem (Israel)

    1994-09-01

    The acronym LEOPARD stands for a syndromic association of Lentigines, Eletrocardiographic changes, Ocular hypertelorism, Pulmonic stenosis, Abnormal genitalia, Retardation of growth and sensorineural Deafness. Inheritance is autosomal dominant with high penetrance and variable expressivity. In 1990 Torok et al. reported on the association of LEOPARD and Marfan syndrome. In addition a clinical similarity (cardiac and cutaneous involvement) exists with the Watson syndrome (neurofibromatosis and pulmonic stenosis) which is linked to the marker D17S33 on chromosome 17. We studied possible linkage of LEOPARD syndrome to the Marfan syndrome locus on chromosome 15 (D15S1, MF13, and (TAAAA)n repeats) and to the NF-1 locus on chromosome 17 in a family with 9 cases of LEOPARD syndrome. Close linkage between LEOPARD syndrome and both the Marfan locus on chromosome 15 and the NF-1 locus on chromosome 17 was excluded (lod score <-2.0 through {theta} = 0.1).

  8. Metabolic Syndrome. Diagnosis in women of five doctor's office. North Area. November 2007-2008.

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    Yaneisy Triana Toledo

    2011-11-01

    Full Text Available The morbility for Metabolic-Syndrome in five doctor's office of the north health area in the municipality Accomplished a descriptive transverse cut investigation in 151 adult women's probabilistic sign to characterize itself Sancti - Spíritus, among 1ro of Noviembre of the 2007 and the November 30 the 2008. Morbility, the antecedent factors personnels of risk and of chronic illnesses were variables gone into no transmissible, they gathered data in a fill-out form, statistical analysis included percentages calculation, parameters esteem and tests them of proportions difference (x2. The main things aftermaths were Metabolic Syndrome prevalence of 33,3 % In the patients with metabolic syndrome the risk factor of chronic illnesses no transmissible that predominate was in order not to accomplish physical activity (96,1 %, her hiperlipidemia (27,3 %, as well as the obesity (24,4 % in this entity's bearers. The antecedent pathological personals for chronic illnesses no transmissible registered hypertension went with 64,7 %.

  9. The potential of heliox as a therapy for acute respiratory distress syndrome in adults and children: a descriptive review

    NARCIS (Netherlands)

    Beurskens, Charlotte J. P.; Wösten-van Asperen, Roelie M.; Preckel, Benedikt; Juffermans, Nicole P.

    2015-01-01

    In neonatal respiratory distress syndrome (RDS) and acute RDS (ARDS) mechanical ventilation is often necessary to manage hypoxia, whilst protecting the lungs through lower volume ventilation and permissive hypercapnia. Mechanical ventilation can, however, induce or aggravate the lung injury caused

  10. Nephrogenic diabetes insipidus in a patient with L1 syndrome: a new report of a contiguous gene deletion syndrome including L1CAM and AVPR2.

    Science.gov (United States)

    Knops, Noël B B; Bos, Krista K; Kerstjens, Mieke; van Dael, Karin; Vos, Yvonne J

    2008-07-15

    We report on an infant boy with congenital hydrocephalus due to L1 syndrome and polyuria due to diabetes insipidus. We initially believed his excessive urine loss was from central diabetes insipidus and that the cerebral malformation caused a secondary insufficient pituitary vasopressin release. However, he failed to respond to treatment with a vasopressin analogue, which pointed to nephrogenic diabetes insipidus (NDI). L1 syndrome and X-linked NDI are distinct clinical disorders caused by mutations in the L1CAM and AVPR2 genes, respectively, located in adjacent positions in Xq28. In this boy we found a deletion of 61,577 basepairs encompassing the entire L1CAM and AVPR2 genes and extending into intron 7 of the ARHGAP4 gene. To our knowledge this is the first description of a patient with a deletion of these three genes. He is the second patient to be described with L1 syndrome and NDI. During follow-up he manifested complications from the hydrocephalus and NDI including global developmental delay and growth failure with low IGF-1 and hypothyroidism. 2008 Wiley-Liss, Inc.

  11. Nailfold video capillaroscopy in Turner syndrome: a descriptive study Videocapilaroscopia na síndrome de Turner: estudo descritivo

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    Simone C. S. Coelho

    2007-12-01

    Full Text Available BACKGROUND: An increased prevalence of impaired glucose homeostasis is reported in Turner syndrome. Endothelial changes are described in patients with insulin resistance, which may be present in patients with Turner syndrome. Video capillaroscopy is a noninvasive examination that allows assessment of vascular patency. OBJECTIVE: To describe the nailfold morphology of capillaries in Turner syndrome using video capillaroscopy. METHODS: Subjects were studied in a temperature-controlled room, 20 days after no nailfold manipulations. The capillaries were visualized by microscope connected to a television and computer and were studied and classified according to these patterns: loop distribution, papilla, avascular fields, edema, form, capillary limbs, flow and hemorrhagic extravasation. RESULTS: Fifty patients aged between 6-37 years with Turner syndrome were studied. Eighteen (36% patients had normal capillaroscopy with hairpin pattern in loop distribution and no avascular fields. The papilla was ratified in 13 (26% and enlarged in four (8%. Edema occurred in 22 (44% cases. There were three (6% macrocapillaries and three (6% were branched. Tortuosity was present in five (10% patients. Hemorrhagic extravasation occurred in one (2% case. Flow was fast in seven (14%, granulous in five (10% and slow in six (12%. CONCLUSION: There was a high prevalence of nailfold capillaroscopy changes in Turner syndrome and the most prevalent alterations found were edema and ratified papilla.CONTEXTO: Estudos evidenciam distúrbios no metabolismo da glicose na síndrome de Turner. As alterações no endotélio estão descritas em pacientes com resistência insulínica, que pode ocorrer em pacientes com síndrome de Turner, e o estudo dos capilares pela videocapilaroscopia é um exame não-invasivo que permite avaliação da permeabilidade vascular. OBJETIVO: Descrever a morfologia dos capilares na síndrome de Turner usando a videocapilaroscopia. MÉTODO: As pacientes

  12. Risk Factors for the Development of Postembolization Syndrome after Transarterial Chemoembolization for Hepatocellular Carcinoma Treatment

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    Mariana Lima

    2018-01-01

    Full Text Available Introduction: Hepatic transarterial chemoembolization is a widely used technique for the treatment of hepatocellular carcinoma. The most common complication of this procedure is postembolization syndrome. The main objective of this study was to assess risk factors for the development of postembolization syndrome. Material and Methods: Single-centre retrospective analysis of 563 hepatic transarterial chemoembolization procedures from January 1st, 2014 – December 31st, 2015. Hepatic transarterial chemoembolization was performed with ½ - 2 vials of 100 - 300 μm microspheres loaded with doxorubicin. Patients who experienced postembolization syndrome were identified based on prolongation of hospitalization due to pain, fever, nausea and/or vomiting. A control group with the patients who did not have postembolization syndrome was randomly created (three controls for one case. Descriptive analysis and multivariate logistic regression were performed. Results: The overall prevalence of postembolization syndrome was 6.2%. Hepatic transarterial chemoembolization with doxorubicin dosage above 75 mg (more than one vial, the size of the largest nodule and female gender had statistically significant relation with development of postembolization syndrome (p = 0.030, p = 0.046 and p = 0.037, respectively. Discussion: Doxorrubicin dosage above 75 mg is associated with a higher risk of postembolization syndrome. This result can be helpful for decision-making in clinical practice, whenever it is possible to avoid a higher dose without compromising the efficacy of the treatment. The size of the largest nodule and female gender also constitute risk factors for postembolization syndrome. The other variables studied were not related to the development of postembolization syndrome. Conclusion: The dose of doxorrubicin, the size of the largest nodule treated and female gender are potential risk factors for the development of postembolization syndrome after hepatic

  13. Quality Of Life And Prevalence Of Burnout Syndrome In Higher Education Teachers

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    Maria de Lourdes Campos

    2017-09-01

    Full Text Available Introduction: Burnout Syndrome, in the twenty-first century, appears among the most common mental disorder among teachers resulting from the interaction between  individual aspects and the working environment, interpreted as a response to chronic job stress.  Objective: To evaluate the prevalence of burnout syndrome and quality of life of higher education teachers in the city of Cajazeiras, Paraíba, Brazil.  Method: This is a descriptive cross-sectional study performed with 174 teachers from institutions of higher education.  Results: The burnout syndrome was observed in only 3.4% of teachers. However, the recorded data require a closer look at the health of the teachers investigated, since a considerable part of them are in the score limit for disease development. Regarding the quality of life of teachers who presented the manifestations of the syndrome, the physical and psychological domains were shown to be the worst for most subjects.  Conclusion: There are teachers in higher education, executing their  profession, affected by burnout syndrome, suggesting a  relationship between this psychosocial phenomenon and the labor context, permeating  the three dimensions proposed by Maslach and Leiter: emotional exhaustion, depersonalization and the lack of personal fulfillment.   DOI: https://doi.org/10.3823/2512

  14. Metabolic syndrome and polycystic ovary syndrome: an intriguing overlapping.

    Science.gov (United States)

    Caserta, Donatella; Adducchio, Gloria; Picchia, Simona; Ralli, Eleonora; Matteucci, Eleonora; Moscarini, Massimo

    2014-06-01

    Metabolic syndrome is an increasing pathology in adults and in children, due to a parallel rise of obesity. Sedentary lifestyle, food habits, cultural influences and also a genetic predisposition can cause dyslipidemia, hypertension, abdominal obesity and insulin resistance which are the two main features of metabolic syndrome. Polycystic ovary syndrome (PCOS) is a condition directly associated with obesity, insulin resistance (HOMA index) and metabolic syndrome, and it is very interesting for its relationship and overlap with the metabolic syndrome. The relationship between the two syndromes is mutual: PCOS women have a higher prevalence of metabolic syndrome and also women with metabolic syndrome commonly present the reproductive/endocrine trait of PCOS. Prevention and treatment of metabolic syndrome and PCOS are similar for various aspects. It is necessary to treat excess adiposity and insulin resistance, with the overall goals of preventing cardiovascular disease and type 2 diabetes and improving reproductive failure in young women with PCOS. First of all, lifestyle changes, then pharmacological therapy, bariatric surgery and laparoscopic ovarian surgery represent the pillars for PCOS treatment.

  15. Barber-Say syndrome and Ablepharon-Macrostomia syndrome: An overview

    NARCIS (Netherlands)

    de Maria, Beatrice; Mazzanti, Laura; Roche, Nathalie; Hennekam, Raoul C.

    2016-01-01

    Barber-Say syndrome (BSS) and Ablepharon-Macrostomia syndrome (AMS) are congenital malformation syndromes caused by heterozygous mutations in TWIST2. Here we provide a critical review of all patients published with these syndromes. We excluded several earlier reports due to misdiagnosis or

  16. Autosomal dominant syndrome resembling Coffin-Siris syndrome.

    Science.gov (United States)

    Flynn, Maureen A; Milunsky, Jeff M

    2006-06-15

    Coffin-Siris syndrome is a multiple congenital anomaly/mental retardation syndrome with phenotypic variability [OMIM 135900]. The diagnosis is based solely on clinical findings, as there is currently no molecular, biochemical, or cytogenetic analysis available to confirm a diagnosis. Although typically described as an autosomal recessive disorder, autosomal dominant inheritance has also been infrequently reported. We describe a mother and her two daughters who all have features that resemble Coffin-Siris syndrome. However, this is not a completely convincing diagnosis given that hypertelorism is not a feature of Coffin-Siris syndrome and the family is relatively mildly affected. Yet, this family provides further evidence of an autosomal dominant mode of inheritance for a likely variant of Coffin-Siris syndrome (at least in some families). In addition, Sibling 1 had premature thelarche. She is the second reported individual within the spectrum of Coffin-Siris syndrome to have premature thelarche, indicating that it may be a rare clinical feature. Copyright 2006 Wiley-Liss, Inc.

  17. Presence of metabolic syndrome in football linemen.

    Science.gov (United States)

    Buell, Jackie L; Calland, Doug; Hanks, Fiona; Johnston, Bruce; Pester, Benjamin; Sweeney, Robert; Thorne, Robert

    2008-01-01

    Metabolic syndrome is a clustering of symptoms associated with abdominal obesity that demonstrates a high risk for cardiovascular disease and type II diabetes mellitus. To evaluate football linemen in National Collegiate Athletic Association Divisions I, II, and III schools for the presence of metabolic syndrome according to the American Heart Association/National Heart, Lung, and Blood Institute criteria as well as to document other related biomarkers. Cross-sectional descriptive study. Three university locations on the first full day of football camp in early morning. Of 76 football linemen, 70 were able to provide blood samples. Height, mass, blood pressure, upper-body skinfolds, and waist circumference were measured at various stations. Two small venous samples of blood were collected and analyzed in a hospital laboratory for fasting insulin, glucose, high-density lipoprotein, total cholesterol, triglycerides, C-reactive protein, and glycosylated hemoglobin. The last station was a verbal family history for cardiovascular disease and diabetes; also, athletes filled out a nutrition attitudes questionnaire. Of the 70 athletes, 34 were identified as having metabolic syndrome according to measures of blood pressure, waist circumference, fasting glucose, high-density lipoprotein, and triglycerides. The mean total cholesterol-to-high-density lipoprotein cholesterol ratio for the group was 4.95, with 32 participants displaying values higher than 5.0. Twelve volunteers had total cholesterol levels greater than 200 mmol/L, 15 had high levels of C-reactive protein, and 9 had slightly elevated levels of glycosylated hemoglobin. Although athletes might be assumed to be protected from risks of cardiovascular disease, we found a high incidence of metabolic syndrome and other associated adverse biomarkers for heart disease in collegiate football linemen. Early screening, awareness, and intervention may have favorable effects on the overall health outcomes of football linemen.

  18. West syndrome in a patient with Schinzel-Giedion syndrome.

    Science.gov (United States)

    Miyake, Fuyu; Kuroda, Yukiko; Naruto, Takuya; Ohashi, Ikuko; Takano, Kyoko; Kurosawa, Kenji

    2015-06-01

    Schinzel-Giedion syndrome is a rare recognizable malformation syndrome defined by characteristic facial features, profound developmental delay, severe growth failure, and multiple congenital anomalies. The causative gene of Schinzel-Giedion syndrome, SETBP1, has been identified, but limited cases have been confirmed by molecular analysis. We present a 9-month-old girl affected by West syndrome with Schinzel-Giedion syndrome. Congenital severe hydronephrosis, typical facial features, and multiple anomalies suggested a clinical diagnosis of Schinzel-Giedion syndrome. Hypsarrhythmia occurred at 7 months of age and was temporarily controlled by adrenocorticotropic hormone (ACTH) therapy during 5 weeks. SETBP1 mutational analysis showed the presence of a recurrent mutation, p.Ile871Thr. The implications in management of Schinzel-Giedion syndrome are discussed. © The Author(s) 2014.

  19. A personal 35 year perspective on Gilles de la Tourette syndrome: prevalence, phenomenology, comorbidities, and coexistent psychopathologies.

    Science.gov (United States)

    Robertson, Mary M

    2015-01-01

    This Series is a personal narrative of my experience with patients with Gilles de la Tourette syndrome and covers its definition and history since the first description in 1825. Controversy entered the prevalence debate early. Although originally considered very rare, in the 1980s, Tourette's syndrome was reported to be common. However, Tourette's syndrome has been shown to occur at a prevalence of about 0·85% to 1%. Tourette's syndrome is more common in the male population, more prominent during childhood, and usually improves, but does not disappear with age. Tourette's syndrome is considered less common in people of sub-Saharan black African, African-American, and American Hispanic ethnic origin. The phenomenology is similar worldwide, indicating a biological basis. The hallmark characteristics are multiple motor and one or more vocal/phonic tics. Other associated features include premonitory urges, a waxing and waning course, and to a much lesser degree, coprolalia. Comorbid disorders are common and are suggested to include obsessive-compulsive disorder and behaviours, attention deficit hyperactivity disorder, and autistic spectrum disorder. Coexistent psychopathologies are suggested to include depression and conduct and personality disorders. Importantly, I argue that Tourette's syndrome is not a unitary condition. Finally, I offer suggestions for future research. Copyright © 2015 Elsevier Ltd. All rights reserved.

  20. Did René Descartes Have Exploding Head Syndrome?

    Science.gov (United States)

    Otaiku, Abidemi Idowu

    2018-04-15

    René Descartes (1596-1650), "the Father of Modern Philosophy" and advocate of mind-body dualism, had three successive dreams on November 10, 1619 that changed the trajectory of his life and the trajectory of human thought. Descartes' influential dreams have been of interest to a number of commentators including the famous neurologist and psychoanalyst Sigmund Freud. Descartes' second dream in particular, in which he heard a loud noise in his head before seeing a bright flash of light upon awakening, has been discussed extensively. Commentators have employed psychoanalytic and medical explanations to account for Descartes' unusual nocturnal experience. In this tradition, I propose that Descartes' second dream was not a dream at all; rather, it was an episode of exploding head syndrome; a benign and relatively common parasomnia. I further suggest that Adrien Baillet's account of Descartes' experience constitutes the earliest description of exploding head syndrome, predating the account described by Silas Weir Mitchell in 1876 by nearly 200 years. © 2018 American Academy of Sleep Medicine.

  1. Management of Severely Atrophic Maxilla in Ectrodactyly Ectodermal Dysplasia-cleft Syndrome.

    Science.gov (United States)

    Rachmiel, Adi; Turgeman, Shahar; Emodi, Omri; Aizenbud, Dror; Shilo, Dekel

    2018-02-01

    Ectrodactyly ectodermal dysplasia-cleft syndrome is a rare genetic syndrome with an incidence of 1/90,000 live births, characterized by cleft lip and palate, severely hypoplastic maxilla, and hypodontia. Patients diagnosed with ectrodactyly ectodermal dysplasia-cleft syndrome suffer from a severely hypoplastic maxilla that is highly difficult to treat using traditional orthognathic methods. In this study, we propose using distraction osteogenesis to achieve a major advancement while maintaining good stability and minimal relapse. To our knowledge, this is the first description of patients with this syndrome treated using distraction osteogenesis. Five patients diagnosed with ectrodactyly ectodermal dysplasia-cleft syndrome were included in the study. All patients had been operated on according to the well-established protocol of cleft lip and palate reconstruction before maxillary distraction osteogenesis. Hard and soft-tissue changes were evaluated by cone beam computed tomography and lateral cephalograms before distraction osteogenesis (T1), at the postdistraction point (T2) and after 1 year of follow-up (T3). Examination revealed marked maxillary advancement in all our patients with a significant mean difference in hard tissue parameters (condylion to A point = 18 mm; nasion-sella line to A point = 15.2 degrees) and a notable improvement in facial convexity (20.9 degrees). One year follow-up measurements demonstrated mild relapse rates of 6% in the horizontal plane. We conclude that despite the challenging anatomic and physiological features of ectrodactyly ectodermal dysplasia-cleft patients, by enhancing current surgical techniques, there is promising potential for improved patient outcomes, achieving normognathic facial appearance with implant supported rehabilitation.

  2. Résultats de recherche | Page 34 | CRDI - Centre de recherches ...

    International Development Research Centre (IDRC) Digital Library (Canada)

    Ouest. L'objectif général de ce projet est de contribuer à rompre le cycle de production de violence et de criminalité chez les jeunes à travers une meilleure compréhension des facteurs et stratégies de résilience des jeunes et de leurs ...

  3. The Eosinophil Count Tends to Be Negatively Associated with Levels of Serum Glucose in Patients with Adrenal Cushing Syndrome

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    Younghak Lee

    2017-09-01

    Full Text Available BackgroundCushing syndrome is characterized by glucose intolerance, cardiovascular disease, and an enhanced systemic inflammatory response caused by chronic exposure to excess cortisol. Eosinopenia is frequently observed in patients with adrenal Cushing syndrome, but the relationship between the eosinophil count in peripheral blood and indicators of glucose level in patients with adrenal Cushing syndrome has not been determined.MethodsA retrospective study was undertaken of the clinical and laboratory findings of 40 patients diagnosed with adrenal Cushing syndrome at Chungnam National University Hospital from January 2006 to December 2016. Clinical characteristics, complete blood cell counts with white blood cell differential, measures of their endocrine function, description of imaging studies, and pathologic findings were obtained from their medical records.ResultsEosinophil composition and count were restored by surgical treatment of all of the patients with adrenal Cushing disease. The eosinophil count was inversely correlated with serum and urine cortisol, glycated hemoglobin, and inflammatory markers in the patients with adrenal Cushing syndrome.ConclusionSmaller eosinophil populations in patients with adrenal Cushing syndrome tend to be correlated with higher levels of blood sugar and glycated hemoglobin. This study suggests that peripheral blood eosinophil composition or count may be associated with serum glucose levels in patients with adrenal Cushing syndrome.

  4. The Eosinophil Count Tends to Be Negatively Associated with Levels of Serum Glucose in Patients with Adrenal Cushing Syndrome.

    Science.gov (United States)

    Lee, Younghak; Yi, Hyon Seung; Kim, Hae Ri; Joung, Kyong Hye; Kang, Yea Eun; Lee, Ju Hee; Kim, Koon Soon; Kim, Hyun Jin; Ku, Bon Jeong; Shong, Minho

    2017-09-01

    Cushing syndrome is characterized by glucose intolerance, cardiovascular disease, and an enhanced systemic inflammatory response caused by chronic exposure to excess cortisol. Eosinopenia is frequently observed in patients with adrenal Cushing syndrome, but the relationship between the eosinophil count in peripheral blood and indicators of glucose level in patients with adrenal Cushing syndrome has not been determined. A retrospective study was undertaken of the clinical and laboratory findings of 40 patients diagnosed with adrenal Cushing syndrome at Chungnam National University Hospital from January 2006 to December 2016. Clinical characteristics, complete blood cell counts with white blood cell differential, measures of their endocrine function, description of imaging studies, and pathologic findings were obtained from their medical records. Eosinophil composition and count were restored by surgical treatment of all of the patients with adrenal Cushing disease. The eosinophil count was inversely correlated with serum and urine cortisol, glycated hemoglobin, and inflammatory markers in the patients with adrenal Cushing syndrome. Smaller eosinophil populations in patients with adrenal Cushing syndrome tend to be correlated with higher levels of blood sugar and glycated hemoglobin. This study suggests that peripheral blood eosinophil composition or count may be associated with serum glucose levels in patients with adrenal Cushing syndrome. Copyright © 2017 Korean Endocrine Society

  5. Cushing syndrome

    Science.gov (United States)

    Hypercortisolism; Cortisol excess; Glucocorticoid excess - Cushing syndrome ... The most common cause of Cushing syndrome is taking too much ... Cushing syndrome . Prednisone, dexamethasone, and prednisolone ...

  6. Working experiences of nurses during the Middle East respiratory syndrome outbreak.

    Science.gov (United States)

    Kang, Hee Sun; Son, Ye Dong; Chae, Sun-Mi; Corte, Colleen

    2018-05-30

    To explore working experiences of nurses during Middle East respiratory syndrome outbreak. Since the first case of Middle East respiratory syndrome was reported on May 20, 2015 in South Korea, 186 people, including health care workers, were infected, and 36 died. A qualitative descriptive study. Seven focus groups and 3 individual in-depth interviews were conducted from August to December 2015. Content analysis was used. The following 4 major themes emerged: "experiencing burnout owing to the heavy workload," "relying on personal protective equipment for safety," "being busy with catching up with the new guidelines related to Middle East respiratory syndrome," and "caring for suspected or infected patients with caution." Participants experienced burnout because of the high volume of work and expressed safety concerns about being infected. Unclear and frequently changing guidelines were 1 of the common causes of confusion. Participants expressed that they need to be supported while caring for suspected or infected patients. This study showed that creating a supportive and safe work environment is essential by ensuring adequate nurse staffing, supplying best-quality personal protective equipment, and improving communication to provide the quality of care during infection outbreak. © 2018 John Wiley & Sons Australia, Ltd.

  7. [BURNOUT SYNDROME AND STRESS OF NURSING STAFF IN A OURENSE HOSPITAL].

    Science.gov (United States)

    Soto-Rodríguez, Anxela; Pérez-Fernandez, Ma Reyes

    2015-02-01

    Set up the stress prevalence and burnout syndrome in different units of nursing staff of the Complexo Hospitalario Universitario de Ourense (CHUOU) and analyse which factors cause it. It has been designed a transversal, descriptive study by performing three assessment instruments: questionnaire of social-demographic variables; Maslach Burnout Inventory (MBI), and Nursing Stress Scale (NSS), to a 117 nursing staff of CHUOU as population. The average age was 39.23 years old and 83.8% were women. The average scoring in the emotional exhaustion dimension was 24.44, in the component of depersonalization was 7.58, and in the personal accomplishment was 34.50. Moreover, 89.7% suffer stress related with work environment. The average score in the dimension of emotional exhaustion was 24.44, the depersonalization of 7.58 and the personal accomplishment of 34.50. The 89.7% suffered from work-related stress. Nursing staff present high burnout syndrome and stress. It has been observed a higher vulnerability to the syndrome from subjects with temporary contract and rotary shift. There has been statistically significant differences in young nursing staff and less career seniority, whom present hiqher stress levels.

  8. Frequency of metabolic syndrome in type-2 diabetes mellitus

    International Nuclear Information System (INIS)

    Kiani, I.G.; Khan, A.N.; Yasir, S.; Baluch, U.T.

    2016-01-01

    Background: Metabolic syndrome (MetS) is a cluster of coronary risk factors such as diabetes and pre-diabetes, abdominal obesity, high triglyceride (TG), low high density lipoprotein cholesterol (HDL-c) levels and high blood pressure (BP). It is estimated that around a quarter of the world adult population have MetS and they are twice as likely to die from it and three times as likely to have a coronary event or stroke compared with people without the syndrome. Methods: This observational descriptive study was conducted at the Department of General Medicine, Federal Government Polyclinic Islamabad. All type-2 diabetics presenting in the outpatient and inpatient department during 11 months between the ages of 30-80 were enrolled. They were interviewed, blood pressure, waist circumference, fasting blood glucose, and lipid profiles were checked. Results: Of the 300 patients 165 (55 percentage) were females and 135 (45 percentage) were males with mean age 52.47±11.24 years. The mean duration of Diabetes Mellitus was 7.38±3.85 years. Metabolic Syndrome was present in 83 percentage of the study population, 129 (43 percentage) were male and 171 (57 percentage) were female. The p-value was statistically significant on comparing the presence of the Metabolic Syndrome with waist circumference, serum triglyceride levels, and blood pressure as it was <0.05. The most commonly occurring finding was a decreased HDL-cholesterol in both genders. Conclusions: The MetS was present in 83 percentage of the diabetic population, mostly in females with decreased HDL-cholesterol being the most common in both genders. (author)

  9. Rare Complications of Cervical Spine Surgery: Horner’s Syndrome

    Science.gov (United States)

    Malone, Hani R.; Smith, Zachary A.; Hsu, Wellington K.; Kanter, Adam S.; Qureshi, Sheeraz A.; Cho, Samuel K.; Baird, Evan O.; Isaacs, Robert E.; Rahman, Ra’Kerry K.; Polevaya, Galina; Smith, Justin S.; Shaffrey, Christopher; Tortolani, P. Justin; Stroh, D. Alex; Arnold, Paul M.; Fehlings, Michael G.; Mroz, Thomas E.; Riew, K. Daniel

    2017-01-01

    Study Design: A multicenter retrospective case series. Objective: Horner’s syndrome is a known complication of anterior cervical spinal surgery, but it is rarely encountered in clinical practice. To better understand the incidence, risks, and neurologic outcomes associated with Horner’s syndrome, a multicenter study was performed to review a large collective experience with this rare complication. Methods: We conducted a retrospective multicenter case series study involving 21 high-volume surgical centers from the AOSpine North America Clinical Research Network. Medical records for 17 625 patients who received subaxial cervical spine surgery from 2005 to 2011 were reviewed to identify occurrence of 21 predefined treatment complications. Descriptive statistics were provided for baseline patient characteristics. Paired t test was used to analyze changes in clinical outcomes at follow-up compared to preoperative status. Results: In total, 8887 patients who underwent anterior cervical spine surgery at the participating institutions were screened. Postoperative Horner’s syndrome was identified in 5 (0.06%) patients. All patients experienced the complication following anterior cervical discectomy and fusion. The sympathetic trunk appeared to be more vulnerable when operating on midcervical levels (C5, C6), and most patients experienced at least a partial recovery without further treatment. Conclusions: This collective experience suggests that Horner’s syndrome is an exceedingly rare complication following anterior cervical spine surgery. Injury to the sympathetic trunk may be limited by maintaining a midline surgical trajectory when possible, and performing careful dissection and retraction of the longus colli muscle when lateral exposure is necessary, especially at caudal cervical levels. PMID:28451480

  10. Isotope techniques in studies of selenium deficiency and toxicity syndromes in farm animals

    International Nuclear Information System (INIS)

    Giese, W.W.

    1984-01-01

    In a brief review of the Se deficiency syndrome in ruminants, studies using non-isotopic methods are applied to an introductory description of the disease. They include methods currently applied for determining Se deficiency status in feed and in ruminant animals. Detection of potential white muscle disease in lambs and calves is discussed. The application of 75 Se in studies on absorption, tissue distribution and excretion under feeding regimes with different Se levels and partly with addition of SO 4 ions or vitamin E is reviewed. In vitro studies with 75 Se include a description of the 75 Se uptake test with red blood cells, the metabolism of selenite, selenate and selenomethionine in rumen microorganisms, and the distribution of 75 Se in cow's and goat's milk. Methods of Se supplementation in Se-deficient areas are summarized and tests with 75 Se-labelled ruminal pellets in sheep and cattle are described. The Se toxicity syndrome is surveyed with respect to causative agents, symptomatology and gross pathology. Special reference is made to the blind staggers and the alkali disease types of selenosis. Isotope techniques are found to be less frequently applied in studies on Se toxicity than in Se deficiency studies. (author)

  11. Russell-Silver syndrome

    Science.gov (United States)

    Silver-Russell syndrome; Silver syndrome; RSS; Russell-Silver syndrome ... One in 10 children with this syndrome has a problem involving chromosome 7. In other people with the syndrome, it may affect chromosome 11. Most of the time, it ...

  12. [Cockett's syndrome, May-Thurner syndrome, or iliac vein compression syndrome].

    Science.gov (United States)

    Gil Martín, A R; Carreras Aja, M; Arrieta Ardieta, I; Labayen Azparren, I

    2014-01-01

    Iliac vein compression syndrome (also known as May-Thurner syndrome or Cockett's syndrome) is a rare clinical entity in which the left common iliac vein is compressed when it passes between the right common iliac artery and the spine. The sustained compression and trauma caused by the pulsatile force of the artery on the vein damage the intima and lead to the formation of membranes or bands in the vascular lumen that hinder or obstruct the flow of blood in the vein, favoring thrombus formation. The current treatment strategy of choice is endovascular vein patch angioplasty and stenting with the aim of improving the caliber of the lumen and enabling normal venous drainage. We present two cases of May-Thurner syndrome and review the clinical and CT findings. Copyright © 2011 SERAM. Published by Elsevier Espana. All rights reserved.

  13. LEOPARD syndrome

    Science.gov (United States)

    Multiple lentigines syndrome; Noonan syndrome with multiple lentigines ... Genetics Home Reference -- ghr.nlm.nih.gov/condition/noonan-syndrome-with-multiple-lentigines National Organization for Rare Disorders -- ...

  14. Description of surface systems. Preliminary site description. Forsmark area Version 1.2

    Energy Technology Data Exchange (ETDEWEB)

    Lindborg, Tobias [ed.

    2005-06-01

    Swedish Nuclear Fuel and Waste Management Co (SKB) started site investigations for a deep repository for spent nuclear fuel in 2002 at two different sites in Sweden, Forsmark and Oskarshamn. The investigations should provide necessary information for a license application aimed at starting underground exploration. For this reason, ecosystem data need to be interpreted and assessed into site descriptive models, which in turn are used for safety assessment studies and for environmental impact assessment. Descriptions of the surface system are also needed for further planning of the site investigations. This report describes the surface ecosystems of the Forsmark site (e.g. hydrology, Quaternary deposits, chemistry, vegetation, animals and the human land use). The ecosystem description is an integration of the site and its regional setting, covering the current state of the biosphere as well as the ongoing natural processes affecting the longterm development. Improving the descriptions is important during both the initial and the complete site investigation phase. Before starting of the initial phase in Forsmark, version 0 of the site descriptive model was developed. The results of the initial site investigation phase is compiled into a preliminary site description of Forsmark (version 1.2) in June 2005. This report provides the major input and background to the biosphere description, in the 1.2 version of the Forsmark site description. The basis for this interim version is quality-assured field data from the Forsmark sub area and regional area, available in the SKB SICADA, and GIS data bases as of July 31th 2004 as well as version 1.1 of the Site Descriptive Model. To achieve an ecosystem site description there is a need to develop discipline-specific models by interpreting and analysing primary data. The different discipline-specific models are then integrated into a system describing interactions and flows and stocks of matter between and within functional units in

  15. Description of surface systems. Preliminary site description. Forsmark area Version 1.2

    International Nuclear Information System (INIS)

    Lindborg, Tobias

    2005-06-01

    Swedish Nuclear Fuel and Waste Management Co (SKB) started site investigations for a deep repository for spent nuclear fuel in 2002 at two different sites in Sweden, Forsmark and Oskarshamn. The investigations should provide necessary information for a license application aimed at starting underground exploration. For this reason, ecosystem data need to be interpreted and assessed into site descriptive models, which in turn are used for safety assessment studies and for environmental impact assessment. Descriptions of the surface system are also needed for further planning of the site investigations. This report describes the surface ecosystems of the Forsmark site (e.g. hydrology, Quaternary deposits, chemistry, vegetation, animals and the human land use). The ecosystem description is an integration of the site and its regional setting, covering the current state of the biosphere as well as the ongoing natural processes affecting the longterm development. Improving the descriptions is important during both the initial and the complete site investigation phase. Before starting of the initial phase in Forsmark, version 0 of the site descriptive model was developed. The results of the initial site investigation phase is compiled into a preliminary site description of Forsmark (version 1.2) in June 2005. This report provides the major input and background to the biosphere description, in the 1.2 version of the Forsmark site description. The basis for this interim version is quality-assured field data from the Forsmark sub area and regional area, available in the SKB SICADA, and GIS data bases as of July 31th 2004 as well as version 1.1 of the Site Descriptive Model. To achieve an ecosystem site description there is a need to develop discipline-specific models by interpreting and analysing primary data. The different discipline-specific models are then integrated into a system describing interactions and flows and stocks of matter between and within functional units in

  16. [Analysis of Possible Sociodemographic and Occupational Risk Factors and the Prevalence of Professional Exhaustion Syndrome (Burnout) in Mexican Dentists].

    Science.gov (United States)

    Castañeda Aguilera, Enrique; García de Alba García, Javier E

    2013-06-01

    To determine the prevalence of professional exhaustion syndrome (burnout) in dentists and to analyze possible sociodemographic and occupational risk factors . An observational, descriptive and cross-sectional survey of 203 dental staff of the Metropolitan Zone of Guadalajara, Mexico, from the Mexican Social Security Institute, University of Guadalajara, and those in private practice. A self-reported identification form and the Maslach Burnout Inventory-Human Services Survey were used to gather data. Descriptive statistics and inferential analyzes were performed using SPSS 15.0 support and EpiInfo V6.1. There was an 88.3% response. Professional exhaustion syndrome (burnout) was detected in 52.2% of them. Significant differences were obtained depending on the employment contract. A negative correlation was observed between the subscales emotional exhaustion and depersonalization, and a positive one between the lack of personal accomplishment at work. Professional exhaustion syndrome (burnout) is common (52.2%) for dentists, their possible risk factors: working in a public institution, being male, over 40 years, without a regular partner, and with more than 15 years with a partner, not having children, being a specialist with 10 years or more in an institution and the current job, morning shift, permanent recruitment, and having another job. The involvement of emotional exhaustion behaves like the syndrome. Average levels of the subscales are generally near normal. A negative correlation was found between the subscales emotional exhaustion and depersonalization, and positive between the lack of personal fulfillment at work with the presence of the syndrome. This leads us to consider the need for preventive measures in the workplace and personnel, as well as intervention programs at an individual, social or organizational level to reduce the prevalence found. Copyright © 2013 Asociación Colombiana de Psiquiatría. Publicado por Elsevier España. All rights reserved.

  17. Dravets syndrom

    DEFF Research Database (Denmark)

    Hansen, Lars Kjaersgård; Rasmussen, Niels Henrik; Ousager, Lilian Bomme

    2010-01-01

    Dravet syndrome is an epileptic syndrome of infancy and early childhood. Most cases of Dravet syndrome seem to be due to a genetic defect causing the sodium channel to malfunction. We describe the main features of the syndrome. This epilepsy is medically intractable, but we call attention...... to the fact that some medications are of benefit and some could exacerbate the condition. Early recognition of the syndrome including by genetic testing could possibly improve outcome and reduce the need for other specialized investigations. Udgivelsesdato: 2010-Feb-22...

  18. Résultats de recherche | Page 24 | CRDI - Centre de recherches ...

    International Development Research Centre (IDRC) Digital Library (Canada)

    Les rôles sexospécifiques et la violence en milieu urbain au Pakistan. Les jeunes hommes sont les agents et les victimes de violence urbaine les plus visibles et les mieux étudiés. Les jeunes femmes, pour leur part, sont les plus invisibles, et demeurent relativement peu étudiées.

  19. Résultats de recherche | Page 35 | CRDI - Centre de recherches ...

    International Development Research Centre (IDRC) Digital Library (Canada)

    L'objectif général de ce projet est de contribuer à rompre le cycle de production de violence et de criminalité chez les jeunes à travers une meilleure compréhension des facteurs et stratégies de résilience des jeunes et de leurs communautés contr. Projet.

  20. Résultats de recherche | Page 12 | CRDI - Centre de recherches ...

    International Development Research Centre (IDRC) Digital Library (Canada)

    Recherche sur les stratégies de prévention du VIH chez les adolescents. En Afrique, le VIH a des répercussions dévastatrices sur les jeunes. À l'échelle mondiale, les jeunes de 15 à 24 ans représentent près du tiers des nouvelles infections. Projet.

  1. Hardware description languages

    Science.gov (United States)

    Tucker, Jerry H.

    1994-01-01

    Hardware description languages are special purpose programming languages. They are primarily used to specify the behavior of digital systems and are rapidly replacing traditional digital system design techniques. This is because they allow the designer to concentrate on how the system should operate rather than on implementation details. Hardware description languages allow a digital system to be described with a wide range of abstraction, and they support top down design techniques. A key feature of any hardware description language environment is its ability to simulate the modeled system. The two most important hardware description languages are Verilog and VHDL. Verilog has been the dominant language for the design of application specific integrated circuits (ASIC's). However, VHDL is rapidly gaining in popularity.

  2. Hereditary familial polyposis and Gardner's syndrome: contribution of the odonto-stomatology examination in its diagnosis and a case description.

    Science.gov (United States)

    Chimenos-Küstner, Eduardo; Pascual, Montserrat; Blanco, Ignacio; Finestres, Fernando

    2005-01-01

    Familial Adenomatous Polyposis (FAP) and its phenotype variant, Gardner's syndrome, constitute a rare autosomal dominant inherited disorder. They are characterised by the development, generally during the second and third decades of life, of multiple adenomatous polyps in the colon and rectum. These polyps have a high risk of subsequently becoming malignant, which normally occurs in the third and fourth decades of life. The phenotypical features of FAP can be very variable. As well as colorectal polyps, these individuals can present with extra-colonic symptoms, among which are particularly: gastro-duodenal polyps, dermoid and epidermoid cysts, desmoid tumours, congenital hypertrophy of the retinal pigment epithelium, disorders of the maxillary and skeletal bones and dental anomalies. In this paper the most important aspects of this syndrome are reviewed, showing an example based on a well documented clinical case. The importance of odonto-stomatological examinations should be pointed out, among others, as a means of reaching a presumptive diagnosis, whose confirmation is vital to the patient.

  3. A Chinese patient with pusher syndrome and unilateral spatial neglect syndrome.

    Science.gov (United States)

    Chen, Xiao-Wei; Lin, Cheng-He; Zheng, Hua; Lin, Zhen-Lan

    2014-07-01

    To observe clinical manifestations, behavioral characteristics, and effects of rehabilitation on a patient with pusher syndrome and unilateral spatial neglect caused by right thalamic hemorrhage. Assessment of pusher syndrome was made by the Scale for Contraversive pushing (SCP), and unilateral spatial neglect syndrome was diagnosed using line cancellation, letter and star cancellation, line bisection tests and copy and continuation of graphic sequence test. Behavioral therapy, occupational therapy, reading training and traditional Chinese medicine methods were adopted for treatment of pusher syndrome and unilateral spatial neglect. The patient showed typical pusher syndrome and unilateral spatial neglect symptoms. The pusher syndrome and unilateral spatial neglect symptoms were significantly improved following rehabilitation treatments. Pusher syndrome and unilateral spatial neglect syndrome occurred simultaneously after right thalamic hemorrhage. Early rehabilitation therapy can reduce the symptoms of pusher syndrome and unilateral spatial neglect syndrome and improve motor function.

  4. Aarskog syndrome

    Science.gov (United States)

    Aarskog disease; Aarskog-Scott syndrome; AAS; Faciodigitogenital syndrome; Gaciogenital dysplasia ... Aarskog syndrome is a genetic disorder that is linked to the X chromosome. It affects mainly males, but females ...

  5. Modern principles of prevention of anophthalmic syndrome: formation of the locomotor stump, the types of orbital implants

    Directory of Open Access Journals (Sweden)

    I. V. Zapuskalov

    2017-01-01

    Full Text Available This article analyzes the current state of the problem of the correction of anophthalmic syndrome. Evaluated various methods of formation of the locomotor stump after removal of the eyeball, gave a detailed description of different types of materials for the fabrication of orbital implant, as well as reflect the basic principles of prevention of complications.

  6. Ectrodactyly-ectodermal dysplasia clefting syndrome (EEC syndrome).

    Science.gov (United States)

    Koul, Monika; Dwivedi, Rahul; Upadhyay, Vinod

    2014-01-01

    Ectrodactyly-ectodermal dysplasia- clefting syndrome (also k/a. split hand- split foot malformation /split hand-split foot ectodermal dysplasia- cleft syndrome/ectodermal dysplasia cleft lip/cleft palate syndrome) a rare form of ectodermal dysplasia, is an autosomal dominant disorder inherited as a genetic trait and characterized by a triad of (i) ectrodactyly, (ii) ectodermal dysplasia and, (iii) & facial clefts.

  7. Ectrodactyly-ectodermal dysplasia clefting syndrome (EEC syndrome)

    OpenAIRE

    Koul, Monika; Dwivedi, Rahul; Upadhyay, Vinod

    2014-01-01

    Ectrodactyly-ectodermal dysplasia- clefting syndrome (also k/a. split hand- split foot malformation /split hand-split foot ectodermal dysplasia- cleft syndrome/ectodermal dysplasia cleft lip/cleft palate syndrome) a rare form of ectodermal dysplasia, is an autosomal dominant disorder inherited as a genetic trait and characterized by a triad of (i) ectrodactyly, (ii) ectodermal dysplasia and, (iii) & facial clefts.

  8. A Comprehensive Review of Tourette Syndrome and Complementary Alternative Medicine.

    Science.gov (United States)

    Kumar, Ashutosh; Duda, L; Mainali, G; Asghar, S; Byler, D

    2018-01-01

    Tourette syndrome (TS) is a neuropsychiatric condition defined by both motor and phonic tics over a period of at least 1 year with the onset before 18 years of age. The purpose of this article is to review the use of complementary alternative medicine (CAM) in children and adults with Tourette syndrome with emphasis on recent research. Most patients do not tell their physician about the use of CAM unless if specifically asked. Of the studies reviewed, description of the treatment and the frequency of use were most often reported. Few studies examine the role or effectiveness of CAM in the treatment of TS specifically. Practitioners should be aware of current research regarding various CAM modalities used for TS patients, including efficacy, potential adverse effects, and interactions with medications. Robust data about the use of CAM, efficacy, and potential side effects is lacking and requires further research to clarify optimal use.

  9. Burnout syndrome in teachers of a professional institution in Mexico

    Directory of Open Access Journals (Sweden)

    Alma Lilia Sapién Aguilar

    2015-03-01

    Full Text Available Burnout syndrome, or burning for work syndrome, is a long-term effect of chronic stress and occurs in jobs that have direct contact with people. The aim was to determine the existence of Burnout in professors of the Faculty of Accounting and Administration (FCA of the Autonomous University of Chihuahua (UACH and its relation with emotional factors such as depression, anxiety and insomnia, job satisfaction, and socio-demographic and labor indicators. The research design had a quantitative approach in a descriptive and applied form with a bibliographic support, and a tool according to Maslach Burnout Inventory (MBI was used, and also the General Health Questionnaire of Goldberg. The most significant results underline that as well as in Maslach and Jackson studies, the emotional exhaustion affects women more than men. However, the findings in this study provide evidence of certain emotional factors related to the occurrence of emotional maladjustment and Burnout, which should be considered in future research on labor stress in professors.

  10. Clinical features, diagnostic criteria, and management of Coffin-Siris syndrome.

    Science.gov (United States)

    Vergano, Samantha S; Deardorff, Matthew A

    2014-09-01

    Coffin-Siris syndrome (OMIM#135900) is a multiple congenital anomaly syndrome classically characterized by hypo- or aplasia of the fifth digit nails or phalanges, as well as coarse facial features, sparse scalp hair, and moderate to severe cognitive and/or developmental delay. The recent identification of molecular etiologies has served to effectively characterize a large set of patients who have been described with Coffin-Siris between the time of its initial description and the present. However, despite recent advances, a number of patients who traditionally fit the diagnosis have yet to have identified causes. This could be due to patients who lie outside the defined phenotype, or alternatively, to additional as yet unidentified genes which may play roles. Here we outline the range of clinical features described in the broader diagnostic category, review the continuing phenotypic challenges and note those subsets of patients for whom molecular causes have yet to be clarified. Finally, we discuss recommendations for clinical management of these individuals. © 2014 Wiley Periodicals, Inc.

  11. Xeroderma pigmentosum-Cockayne syndrome complex.

    Science.gov (United States)

    Natale, Valerie; Raquer, Hayley

    2017-04-04

    Xeroderma pigmentosum-Cockayne syndrome complex is a very rare multisystem degenerative disorder (Orpha: 220295; OMIM: 278730, 278760, 278780, 610651). Published information on XP-CS is mostly scattered throughout the literature. We compiled statistics related to symptom prevalence in XP-CS and have written a clinical description of the syndrome. We also drew on clinical practices used in XP and in Cockayne syndrome without XP to aid management of XP-CS.Extensive searches of the literature identified 43 XP-CS patients. The diagnosis had been confirmed with molecular or biochemical methods in 42 of them. Clinical features of each patient were summarized in spreadsheets and summary statistics were generated from this data. XP patients are classified into complementation groups according to the gene that is mutated. There are four groups in XP-CS, and classification was available for 42 patients. Twenty-one were in the XP-G complementation group, 13 in XP-D, 5 in XP-B, and 3 in XP-F. Overall, the clinical features of XP-CS are very similar to those of CS without XP, with the exception of skin cancers in XP-CS. However, one intriguing finding was that cancer incidence was lower in XP-CS compared to XP alone or XP-neurological disorder. The cancer rate in XP-CS was higher than in CS without XP, an unsurprising finding. There is preliminary evidence for the existence of severity groups in XP-CS, as is the case in CS.Although health problems in XP-CS vary both in severity and in when they the first occur, there was overall homogeneity between all complementation groups and putative severity groups. Severely affected patients met fewer milestones and died at younger ages compared to more mildly affected patients.

  12. Cushing's Syndrome

    OpenAIRE

    宗, 友厚; 伊藤, 勇; 諏訪, 哲也; 武田, 純; MUNE, Tomoatsu

    2003-01-01

    Sixteen cases of verified Cushing's syndrome, and twelve cases of probable Cushing's syndrome were reviewed and data on them were compared with various reports on Cushing's syndrome in the literature.

  13. Prenatal diagnosis and prognosis of triple X syndrome: 47, XXX.

    Science.gov (United States)

    Ben Hamouda, H; Mkacher, N; Elghezal, H; Bannour, H; Kamoun, M; Soua, H; Saad, A; Souissi, M M; Sfar, M T

    2009-11-01

    Triple X syndrome is a relatively common sex chromosomal abnormality occurring in 0,1% of live-born female infants. Most of these infants have a normal phenotype and only a few cases with 47, XXX karyotype have congenital malformations. We report three cases of triple X syndrome that were diagnosed prenatally by genetic amniocentesis for advanced maternal age and have been observed from birth to age of 3 to 12 years. A description of their growth and development is presented. The birth weight was normal in all patients and one of them had facial dysmorphism with right microphtalmia and auricular septal defect. During the first 2 years of life, the neuromotor development of these infants was not distinguishable from chromosomally normal children. By 3 years of age, two patients have a moderate developmental delay in speech and language. One girl 12-year-old had normal schooling. The diagnosis of the triple X syndrome can be never made because clinical demonstrations are not rather important to arouse the demand of a karyotype. Prenatal diagnosis is often made in front of the advanced maternal age. Expectant parents must be counseled as to the significance of this 47, XXX karyotype and prognostic information must be given.

  14. Nance-Horan syndrome-The oral perspective on a rare disease.

    Science.gov (United States)

    Gjørup, Hans; Haubek, Dorte; Jacobsen, Pernille; Ostergaard, John R

    2017-01-01

    The present study describes seven patients with Nance-Horan syndrome, all referred to a specialized oral care unit in the Central Denmark Region. A literature search on "Nance Horan Syndrome" resulted in 53 publications among which 29 reported on dental findings. Findings reported in these papers have been systematized to obtain an overview of the reported findings and the terminology on dental morphology. All seven patients included in the present study showed deviations of crown morphology on incisors and/or molars. The only consistent and very clear dental aberration was alterations in the tooth morphology that is screwdriver-shaped incisors and bud molars being most pronounced in the permanent dentition, but were also present in the primary dentition. In addition, three patients had supernumerary teeth, and three had dental agenesis. In conclusion, a dental examination as a part of the diagnostic process may reveal distinct characteristics of the dental morphology, which could be of diagnostic value and facilitate an early diagnosis. In the description of molar morphology in NHS patients, it is recommended to use the term "bud molar." The combination of congenital cataract, screwdriwer-shaped incisors and bud-shaped molars is a strong clinical indication of Nance-Horan syndrome. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  15. Burnout syndrome among undergraduate nursing students at a public university1

    Science.gov (United States)

    Tomaschewski-Barlem, Jamila Geri; Lunardi, Valéria Lerch; Lunardi, Guilherme Lerch; Barlem, Edison Luiz Devos; da Silveira, Rosemary Silva; Vidal, Danielle Adriane Silveira

    2014-01-01

    OBJECTIVE: to investigate the burnout syndrome and its relationship with demographic and academic variables among undergraduate nursing students at a public university in Southern Brazil. METHOD: a quantitative study with 168 students, by applying an adaptation of the Maslach Burnout Inventory - Student Survey, validated for this study. We used descriptive and variance analysis of the data analysis. RESULTS: we found that students do not have the burnout syndrome, manifesting high average scores in Emotional Exhaustion, low in Disbelief and high in Professional Effectiveness; that younger students who perform leisure activities have greater Professional Effectiveness, unlike students in early grades with no extracurricular activities; combining work and studies negatively influenced only the Professional Effectiveness factor, while the intention of giving up influenced negatively Disbelief and Professional Effectiveness factors. CONCLUSION: the situations that lead students to Emotional Exhaustion need to be recognized, considering the specificity of their study environments. PMID:25591087

  16. Clinicoroentgenological semiotics of chondroectodermal dysplasia (Ellis-van Creveld syndrome)

    International Nuclear Information System (INIS)

    Prokopenko, O.P.

    1989-01-01

    The paper is devoted to the description of a rare hereditary systemic skeletal disease-chondroectodermal dysplasia (CED). The clinical symptoms of CED are divided into 4 grupus. On the basis of 2 cases, symptoms of the affection of the locomotor system in patients with Ellis-van-Creveld syndrome are analyzed. An X-ray picture of hand and foot lesions is characterized not only by change in the shape, size, number and synostosis of some bones but also by marked reorganization of osseous tissue in the epimetaphysial regions. X-ray examination was shown to be the chief method for investigation of the osseous system

  17. Diagnosis and Management of Budd Chiari Syndrome: An Update

    International Nuclear Information System (INIS)

    Copelan, Alexander; Remer, Erick M.; Sands, Mark; Nghiem, Hanh; Kapoor, Baljendra

    2015-01-01

    Imaging plays a crucial role in the early detection and assessment of the extent of disease in Budd Chiari syndrome (BCS). Early diagnosis and intervention to mitigate hepatic congestion is vital to restoring hepatic function and alleviating portal hypertension. Interventional radiology serves a key role in the management of these patients. The interventionist should be knowledgeable of the clinical presentation as well as key imaging findings, which often dictate the approach to treatment. This article concisely reviews the etiology, pathophysiology, and clinical presentation of BCS and provides a detailed description of imaging and treatment options, particularly interventional management

  18. Diagnosis and Management of Budd Chiari Syndrome: An Update

    Energy Technology Data Exchange (ETDEWEB)

    Copelan, Alexander, E-mail: alexander.copelan@beaumont.edu [William Beaumont Hospital, Diagnostic Radiology Department (United States); Remer, Erick M., E-mail: remere1@ccf.org; Sands, Mark, E-mail: sandsm@ccf.org [Cleveland Clinic, Imaging Institute (United States); Nghiem, Hanh, E-mail: HNghiem@beaumont.edu [William Beaumont Hospital, Diagnostic Radiology Department (United States); Kapoor, Baljendra, E-mail: kapoorb@ccf.org [Cleveland Clinic, Imaging Institute (United States)

    2015-02-15

    Imaging plays a crucial role in the early detection and assessment of the extent of disease in Budd Chiari syndrome (BCS). Early diagnosis and intervention to mitigate hepatic congestion is vital to restoring hepatic function and alleviating portal hypertension. Interventional radiology serves a key role in the management of these patients. The interventionist should be knowledgeable of the clinical presentation as well as key imaging findings, which often dictate the approach to treatment. This article concisely reviews the etiology, pathophysiology, and clinical presentation of BCS and provides a detailed description of imaging and treatment options, particularly interventional management.

  19. Müllerian agenesis with hypohidrotic ectodermal dysplasia syndrome.

    Science.gov (United States)

    Whaley, Katie; Winter, Jordan; Eyster, Kathleen M; Hansen, Keith A

    2012-04-01

    To describe the association of müllerian agenesis with hypohidrotic ectodermal dysplasia. Case report. University medical center. A 17-year-old woman with hypohidrotic ectodermal dysplasia referred for evaluation of primary amenorrhea. History, physical examination, and ultrasound. Physical findings of these two syndromes. Physical examination and ultrasound demonstrated müllerian agenesis with findings of hypohidrotic ectodermal dysplasia. This is the first description of the association of müllerian agenesis with ectodermal dysplasia. This rare case might provide further insight into the development of the uterus and the ectoderm as well as its derivatives. Copyright © 2012 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  20. Polycystic ovary syndrome and metabolic syndrome.

    Science.gov (United States)

    Ali, Aus Tariq

    2015-08-01

    Polycystic ovary syndrome (PCOS) is a heterogeneous disorder, where the main clinical features include menstrual irregularities, sub-fertility, hyperandrogenism, and hirsutism. The prevalence of PCOS depends on ethnicity, environmental and genetic factors, as well as the criteria used to define it. On the other hand, metabolic syndrome is a constellation of metabolic disorders which include mainly abdominal obesity, insulin resistance, impaired glucose metabolism, hypertension and dyslipidaemia. These associated disorders directly increase the risk of Type 2 diabetes mellitus (DMT2), coronary heart disease (CHD), cardiovascular diseases (CVD) and endometrial cancer. Many patients with PCOS have features of metabolic syndrome such as visceral obesity, hyperinsulinaemia and insulin resistance. These place patients with PCOS under high risk of developing cardiovascular disease (CVD), Type 2 diabetes (DMT2) and gynecological cancer, in particular, endometrial cancer. Metabolic syndrome is also increased in infertile women with PCOS. The aim of this review is to provide clear and up to date information about PCOS and its relationship with metabolic syndrome, and the possible interaction between different metabolic disorders.

  1. Résultats de recherche | Page 19 | CRDI - Centre de recherches ...

    International Development Research Centre (IDRC) Digital Library (Canada)

    Punto J : portail d'information sur la santé et le VIH/sida par et pour les jeunes - phase II. Le projet Punto J, financé par le CRDI (no 103077), constitue une approche novatrice pour ce qui est de contrer la progression rapide du VIH/sida chez les jeunes en Amérique latine. Projet ...

  2. 2405-IJBCS-Article-Bessokon Denis Assi

    African Journals Online (AJOL)

    hp

    vraisemblablement une attitude agressive des femelles vis-à-vis des jeunes car, ce sont les femelles en pré- émergence (pré-ponte, incubante et sub-adulte) connues pour être agressives ou "tueuses" de jeunes qui présentent significativement la manifestation de ce comportement. Par contre, l'activité de « tissage » (TIS).

  3. Tourette syndrome

    Science.gov (United States)

    Gilles de la Tourette syndrome; Tic disorders - Tourette syndrome ... Tourette syndrome is named for Georges Gilles de la Tourette, who first described this disorder in 1885. The disorder is likely passed down through families. ...

  4. Turner syndrome: From birth to adulthood.

    Science.gov (United States)

    Ríos Orbañanos, Isabel; Vela Desojo, Amaia; Martinez-Indart, Lorea; Grau Bolado, Gema; Rodriguez Estevez, Amaya; Rica Echevarria, Itxaso

    2015-12-01

    Turner syndrome is characterized by a great variability of clinical manifestations caused by a total or partial loss of X-chromosome. A retrospective, descriptive study of the diagnosis, course, and current status of patients with Turner syndrome followed up at our section over the past 40 years, based on review of medical records supplemented with a telephone survey. Forty-five female patients with a current mean age of 22.95years (range 2-38) and a mean age at diagnosis of 4.71 were included. Sixty-three percent of them showed a mosaic karyotype. Short stature was the most common reason for consultation (54%), with increased prenatal diagnosis in most recent cases. Seventy-two percent have been treated with growth hormone, together with oxandrolone in 26%. Final stature was short in 69% of patients. Gonadal failure was found in 66%; most of whom received replacement therapy. Three patients achieved pregnancy by oocyte donation. The 31 adult patients are mainly monitored by the endocrinology (37.5%) and/or gynecology (34.4%) departments. As regards psychosocial aspects, 22% required support during school, and 80% completed middle to high level education. Two patients died, one due to dissecting aortic aneurysm and the other one, who had multiple pathological conditions, from respiratory failure. Short stature is the main cause of diagnosis in patients with Turner syndrome; most cases show genetic mosaicism. The most common clinical manifestations include short stature and gonadal failure. Eighty percent of patients complete middle or high education. In adulthood, follow-up is irregular, sometimes scarce, and clearly improvable. Copyright © 2015 SEEN. Published by Elsevier España, S.L.U. All rights reserved.

  5. Exogenous Cushing syndrome

    Science.gov (United States)

    Cushing syndrome - corticosteroid induced; Corticosteroid-induced Cushing syndrome; Iatrogenic Cushing syndrome ... Cushing syndrome is a disorder that occurs when your body has a higher than normal level of the hormone ...

  6. Descriptive study of cleft lip and palate related to individual, systemic and social factors

    Directory of Open Access Journals (Sweden)

    Thiago Machado Ardenghi

    2008-01-01

    Full Text Available Objectives: Verify the types of fissures that most affect patients under 12 years of age, at the Facial Deformity Rehabilitation Center in São Paulo, and evaluate individual, systemic and social factors.Methods: A sample of 100 children and adolescents with cleft lip and palate were selected with the purpose of collecting data as regards sex, race, type of fissure and side affected, syndromes, sequences and associated malformations, presence of family history of fissure, and age of parents at the time of the child’s conception. The patients’ parents answered a previously validated questionnaire with closed questions to provide data as regards the socio-economic factor. All the information was stored in a database and submitted to descriptive statistical analysis. Results: 61% of population sample was of the male gender and 92% was of the white race. The incisive trans-foramen fissure was prevalent (62% and the unilateral fissures were most frequent (65.8%, and the left side was the most affected (44.3%. As regards systemic factors, 22% of the patients had syndromes or sequences; the most frequently associated syndrome was the Pierre Robin. Among the malformation associated with cleft lip and palate fissures, congenital heart diseases were prevalent (37.9%. Family recurrence of fissures was shown in only 23% of cases. The family nuclei were composed of married parents (84%, who had higher education (47% and worked full time (81%. Conclusion: There was greater frequency of the incisive trans-foramen fissure and greater occurrence in the male gender. Congenital heart diseases and the Pierre Robin sequence were the syndromes most frequently associated with cleft lip and palate. There was no family tendency towards cleft lip and palate fissures, and the majority of families were in a good socio-economic and educational condition.

  7. Description of surface systems. Preliminary site description Simpevarp sub area - Version 1.2

    Energy Technology Data Exchange (ETDEWEB)

    Lindborg, Tobias [ed.

    2005-03-01

    Swedish Nuclear Fuel and Waste Management Co is currently conducting site characterisation in the Simpevarp area. The area is divided into two subareas, the Simpevarp and the Laxemar subarea. The two subareas are surrounded by a common regional model area, the Simpevarp area. This report describes both the regional area and the subareas. This report is an interim version (model version 1.2) of the description of the surface systems at the Simpevarp area, and should be seen as a background report to the site description of the Simpevarp area, version 1.2, SKB-R--05-08. The basis for this description is quality-assured field data available in the SKB SICADA and GIS databases, together with generic data from the literature. The Surface system, here defined as everything above the bedrock, comprises a number of separate disciplines (e.g. hydrology, geology, topography, oceanography and ecology). Each discipline has developed descriptions and models for a number of properties that together represent the site description. The current methodology for developing the surface system description and the integration to ecosystem models is documented in a methodology strategy report SKB-R--03-06. The procedures and guidelines given in that report were followed in this report. Compared with version 1.1 of the surface system description SKB-R--04-25, this report presents considerable additional features, especially in the ecosystem description (Chapter 4) and in the description of the surface hydrology (Section 3.4). A first attempt has also been made to connect the flow of matter (carbon) between the different ecosystems into an overall ecosystem model at a landscape level. A summarised version of this report is also presented in SKB-R--05-08 together with geological-, hydrogeological-, transport properties-, thermal properties-, rock mechanics- and hydrogeochemical descriptions.

  8. Description of surface systems. Preliminary site description Simpevarp sub area - Version 1.2

    International Nuclear Information System (INIS)

    Lindborg, Tobias

    2005-03-01

    Swedish Nuclear Fuel and Waste Management Co is currently conducting site characterisation in the Simpevarp area. The area is divided into two subareas, the Simpevarp and the Laxemar subarea. The two subareas are surrounded by a common regional model area, the Simpevarp area. This report describes both the regional area and the subareas. This report is an interim version (model version 1.2) of the description of the surface systems at the Simpevarp area, and should be seen as a background report to the site description of the Simpevarp area, version 1.2, SKB-R--05-08. The basis for this description is quality-assured field data available in the SKB SICADA and GIS databases, together with generic data from the literature. The Surface system, here defined as everything above the bedrock, comprises a number of separate disciplines (e.g. hydrology, geology, topography, oceanography and ecology). Each discipline has developed descriptions and models for a number of properties that together represent the site description. The current methodology for developing the surface system description and the integration to ecosystem models is documented in a methodology strategy report SKB-R--03-06. The procedures and guidelines given in that report were followed in this report. Compared with version 1.1 of the surface system description SKB-R--04-25, this report presents considerable additional features, especially in the ecosystem description (Chapter 4) and in the description of the surface hydrology (Section 3.4). A first attempt has also been made to connect the flow of matter (carbon) between the different ecosystems into an overall ecosystem model at a landscape level. A summarised version of this report is also presented in SKB-R--05-08 together with geological-, hydrogeological-, transport properties-, thermal properties-, rock mechanics- and hydrogeochemical descriptions

  9. Insomnia is a frequent finding in adults with Asperger syndrome

    Directory of Open Access Journals (Sweden)

    von Wendt Lennart

    2003-10-01

    Full Text Available Abstract Background Asperger syndrome (AS is a neurodevelopmental disorder belonging to autism spectrum disorders with prevalence rate of 0,35% in school-age children. It has been most extensively studied in childhood while there is scarcity of reports concerning adulthood of AS subjects despite the lifelong nature of this syndrome. In children with Asperger syndrome the initiation and continuity of sleep is disturbed because of the neuropsychiatric deficits inherent of AS. It is probable that sleep difficulties are present in adulthood as well. Our hypothesis was that adults with AS suffer from difficulty in initiating and maintaining sleep and nonrestorative sleep (insomnia. Methods 20 AS without medication were compared with 10 healthy controls devoid of neuropsychiatric anamnesis. Clinical examination, blood test battery and head MRI excluded confounding somatic illnesses. Structured psychiatric interview for axis-I and axis-II disorders were given to both groups as well as Beck Depression Inventory and Wechsler adult intelligence scale, revised version. Sleep quality was assessed with sleep questionnaire, sleep diary during 6 consecutive days and description of possible sleep problems by the participants own words was requested. Results compared with controls and with normative values of good sleep, AS adults had frequent insomnia. In sleep questionnaire 90% (18/20, in sleep diary 75% (15/20 and in free description 85% (17/20 displayed insomnia. There was a substantial psychiatric comorbidity with only 4 AS subject devoid of other axis-I or axis-II disorders besides AS. Also these persons displayed insomnia. It can be noted that the distribution of psychiatric diagnoses in AS subjects was virtually similar to that found among patient with chronic insomnia. Conclusions the neuropsychiatric deficits inherent of AS predispose both to insomnia and to anxiety and mood disorders. Therefore a careful assessment of sleep quality should be an

  10. Targets to treat metabolic syndrome in polycystic ovary syndrome.

    Science.gov (United States)

    Mahalingaiah, Shruthi; Diamanti-Kandarakis, Evanthia

    2015-01-01

    Metabolic syndrome is comprised of a combination of the following states: increased insulin resistance, dyslipidemia, cardiovascular disease, and increased abdominal obesity. Women with polycystic ovary syndrome (PCOS) have an increased risk of developing metabolic syndrome over the course of their lives. Metabolic syndrome increases risk of major cardiovascular events, morbidity, quality of life, and overall health care costs. Though metabolic syndrome in women with PCOS is an area of great concern, there is no effective individual medical therapeutic to adequately treat this issue. This article will review key aspects of metabolic syndrome in PCOS. We will discuss classic and novel therapeutics to address metabolic syndrome in women with PCOS. We will conclude with the importance of developing strategic interventions to increase the compliance to lifestyle and dietary modification, in addition to appreciation of the emerging pharmaceutical therapeutics available. Innovation in lifestyle modification, including diet, exercise, with and without dedicated stress reduction techniques is the future in treatment of metabolic syndrome in PCOS. Application of novel interventions, such as group medical care, may improve future adherence to lifestyle modification recommendations, in addition to or in combination with pharmaceutical therapeutics.

  11. Targets to treat metabolic syndrome in polycystic ovary syndrome

    Science.gov (United States)

    Mahalingaiah, Shruthi; Diamanti-Kandarakis, Evanthia

    2016-01-01

    Introduction Metabolic syndrome is comprised of a combination of the following states: increased insulin resistance, dyslipidemia, cardiovascular disease, and increased abdominal obesity. Women with polycystic ovary syndrome (PCOS) have an increased risk of developing metabolic syndrome over the course of their lives. Metabolic syndrome increases risk of major cardiovascular events, morbidity, quality of life, and overall health care costs. Though metabolic syndrome in women with PCOS is an area of great concern, there is no effective individual medical therapeutic to adequately treat this issue. Areas Covered This article will review key aspects of metabolic syndrome in PCOS. We will discuss classic and novel therapeutics to address metabolic syndrome in women with PCOS. We will conclude with the importance of developing strategic interventions to increase the compliance to lifestyle and dietary modification, in addition to appreciation of the emerging pharmaceutical therapeutics available. Expert Opinion Innovation in lifestyle modification, including diet, exercise, with and without dedicated stress reduction techniques is the future in treatment of metabolic syndrome in PCOS. Application of novel interventions, such as group medical care, may improve future adherence to lifestyle modification recommendations, in addition to or in combination with pharmaceutical therapeutics. PMID:26488852

  12. Concurrent Van der Woude syndrome and Turner syndrome: A case report.

    Science.gov (United States)

    Los, Evan; Baines, Hayley; Guttmann-Bauman, Ines

    2017-01-01

    Most cases of Van der Woude syndrome are caused by a mutation to interferon regulatory factor 6 on chromosome 1. Turner syndrome is caused by complete or partial absence of the second sex chromosome in girls. We describe a unique case of the two syndromes occurring concurrently though apparently independently in a girl with Van der Woude syndrome diagnosed at birth and Turner syndrome at 14 years 9 months. Short stature was initially misattributed to Van der Woude syndrome and pituitary insufficiency associated with clefts before correctly diagnosing Turner syndrome. We discuss the prevalence of delayed diagnosis of Turner syndrome, the rarity of reports of concurrent autosomal chromosome mutation and sex chromosome deletion, as well as the need to consider the diagnosis of Turner syndrome in all girls with short stature regardless of prior medical history.

  13. Milk-alkali syndrome

    Science.gov (United States)

    Calcium-alkali syndrome; Cope syndrome; Burnett syndrome; Hypercalcemia; Calcium metabolism disorder ... Milk-alkali syndrome is almost always caused by taking too many calcium supplements, usually in the form of calcium carbonate. Calcium ...

  14. Marfan Syndrome

    Science.gov (United States)

    Marfan syndrome is a disorder that affects connective tissue. Connective tissues are proteins that support skin, bones, blood vessels, ... A problem with the fibrillin gene causes Marfan syndrome. Marfan syndrome can be mild to severe, and ...

  15. Waardenburg Syndrome: description of two novel mutations in the PAX3 gene, one of which incompletely penetrant

    Directory of Open Access Journals (Sweden)

    Eliete Pardono

    2006-01-01

    Full Text Available We describe two different novel mutations in the PAX3 gene, detected in two families with cases of Waardenburg syndrome type I (WSI. The missense mutation detected in one family involved a single substitution in exon 2 (c.142 G > T and was present both in the affected individual and in his clinically normal father. The mutation found in the second family consisted of a deletion of 13 bases, c.764-776del(TTACCCTGACATT, in exon 5.

  16. Guidelines for Description

    NARCIS (Netherlands)

    Links, P.; Horsman, Peter; Kühnel, Karsten; Priddy, M.; Reijnhoudt, Linda; Merenmies, Mark

    2013-01-01

    The Guidelines follow the conceptual metadata model (deliverable 17.2). They include guidelines for description of collection-holding institutions, document collections, organisations, personalities, events, camps and ghettos. As much as possible the guidelines comply with the descriptive standards

  17. Brief Report: Repetitive Behaviour Profiles in Williams Syndrome: Cross Syndrome Comparisons with Prader-Willi and Down Syndromes

    Science.gov (United States)

    Royston, R.; Oliver, C.; Moss, J.; Adams, D.; Berg, K.; Burbidge, C.; Howlin, P.; Nelson, L.; Stinton, C.; Waite, J.

    2018-01-01

    This study describes the profile of repetitive behaviour in individuals with Williams syndrome, utilising cross-syndrome comparisons with people with Prader-Willi and Down syndromes. The Repetitive Behaviour Questionnaire was administered to caregivers of adults with Williams (n = 96), Prader-Willi (n = 103) and Down (n = 78) syndromes. There were…

  18. [Cotard's syndrome: Case report and a brief review of literature].

    Science.gov (United States)

    Moschopoulos, N P; Kaprinis, S; Nimatoudis, J

    2016-01-01

    The term "Cotard's syndrome" is used to describe a number of clinical features, mostly hypochondriac and nihilistic delusions, the most characteristic of which are the ideas "I am dead" and "my internal organs do not exist". Besides, anxious and depressed mood, delusions of damnation, possession and immortality, suicidal and self-mutilating behavior are included. The first description of the syndrome was made in 1880 by Cotard, who presented the case of a female patient in a lecture. He originally named it "hypochondriac delusion", and some years later "delusion of negations", while it was named "Cotard delusion" after his death. In international literature, the terms "nihilistic delusion" and "Cotard's syndrome" prevailed over "delusion of negations" and "Cotard delusion". In the present study we report the case of a 59 year-old woman, who was admitted to our department after a suicide attempt, and who showed symptoms of Cotard's syndrome for about two years, namely depressed mood, hypochondriac and nihilistic delusions, delusions of immortality and damnation, suicidal ideation, severe psychomotor retardation, diminished motivation and tendency to stay in bed. She never took the medication she was prescribed, and at times she refused to eat. During her hospitalization, there was performed a full blood panel and medical imaging, that showed chronic ischemic infarctions, periventricular leukoencephalopathy and diffuse cerebral atrophy in MRI. All the other test results were normal. She was administered treatment with haloperidol, mirtazapine and venlafaxine. Gradually, her psychomotor ability, motivation and mood improved, she didn't express suicidal ideation, her delusions were less intense and she was able to question them, but they weren't eliminated. She was discharged in improved condition, after 44 days. Cotard's syndrome isn't mentioned in the current classification systems (ICD-10, DSM-5). In literature though, it has been divided into three types, according

  19. Loeys-Dietz Syndrome

    Science.gov (United States)

    ... to the signs and symptoms of Loeys-Dietz syndrome. Marfan syndrome is different from Loeys-Dietz syndrome in that the gene mutation which causes Marfan syndrome is in fibrillin-1 (FBN-1), a protein ...

  20. Management of Severely Atrophic Maxilla in Ectrodactyly Ectodermal Dysplasia-cleft Syndrome

    Science.gov (United States)

    Rachmiel, Adi; Emodi, Omri; Aizenbud, Dror; Shilo, Dekel

    2018-01-01

    Background: Ectrodactyly ectodermal dysplasia-cleft syndrome is a rare genetic syndrome with an incidence of 1/90,000 live births, characterized by cleft lip and palate, severely hypoplastic maxilla, and hypodontia. Patients diagnosed with ectrodactyly ectodermal dysplasia-cleft syndrome suffer from a severely hypoplastic maxilla that is highly difficult to treat using traditional orthognathic methods. In this study, we propose using distraction osteogenesis to achieve a major advancement while maintaining good stability and minimal relapse. To our knowledge, this is the first description of patients with this syndrome treated using distraction osteogenesis. Methods: Five patients diagnosed with ectrodactyly ectodermal dysplasia-cleft syndrome were included in the study. All patients had been operated on according to the well-established protocol of cleft lip and palate reconstruction before maxillary distraction osteogenesis. Hard and soft-tissue changes were evaluated by cone beam computed tomography and lateral cephalograms before distraction osteogenesis (T1), at the postdistraction point (T2) and after 1 year of follow-up (T3). Results: Examination revealed marked maxillary advancement in all our patients with a significant mean difference in hard tissue parameters (condylion to A point = 18 mm; nasion-sella line to A point = 15.2 degrees) and a notable improvement in facial convexity (20.9 degrees). One year follow-up measurements demonstrated mild relapse rates of 6% in the horizontal plane. Conclusions: We conclude that despite the challenging anatomic and physiological features of ectrodactyly ectodermal dysplasia-cleft patients, by enhancing current surgical techniques, there is promising potential for improved patient outcomes, achieving normognathic facial appearance with implant supported rehabilitation. PMID:29616174

  1. Prevalence of Risk Factors for the Metabolic Syndrome in the Middle Income Caribbean Nation of St. Lucia

    Science.gov (United States)

    Cherry, Colleen O'Brien; Serieux, Elizabeth; Didier, Martin; Nuttal, Mary Elizabeth; Schuster, Richard J.

    2014-01-01

    The objective of this research was to measure the presence of metabolic syndrome risk factors in a sample population in the middle income Caribbean nation of St. Lucia and to identify the demographic and behavioral factors of metabolic syndrome among the study participants. Interviews and anthropometric measures were conducted with 499 St. Lucians of ages 18–99. Descriptive statistics were used for the analysis. Fifty-six percent of females and 18 percent of males had a waist size equal to or above the indicator for the metabolic syndrome. Behavioral risk factors such as sedentary lifestyle, smoking, and alcohol consumption varied by gender. Thirty-six percent of women and 22% of men reported a sedentary lifestyle and 43% of women and 65% of men reported any alcohol consumption. More research should be done to determine the cultural norms and gender differences associated with modifiable risk behaviors in St. Lucia. PMID:25309758

  2. Descriptive statistics.

    Science.gov (United States)

    Nick, Todd G

    2007-01-01

    Statistics is defined by the Medical Subject Headings (MeSH) thesaurus as the science and art of collecting, summarizing, and analyzing data that are subject to random variation. The two broad categories of summarizing and analyzing data are referred to as descriptive and inferential statistics. This chapter considers the science and art of summarizing data where descriptive statistics and graphics are used to display data. In this chapter, we discuss the fundamentals of descriptive statistics, including describing qualitative and quantitative variables. For describing quantitative variables, measures of location and spread, for example the standard deviation, are presented along with graphical presentations. We also discuss distributions of statistics, for example the variance, as well as the use of transformations. The concepts in this chapter are useful for uncovering patterns within the data and for effectively presenting the results of a project.

  3. Pre-Menstrual Syndrome in Women with Down Syndrome

    Science.gov (United States)

    Mason, Linda; Cunningham, Cliff

    2009-01-01

    Background: Prevalence of pre-menstrual syndrome (PMS) may be higher in women with Down syndrome due to syndrome specific characteristics in biochemistry, psychopathology and lifestyle. Recognition of PMS may be difficult for women with intellectual disabilities and their carers. Method: A daily diary, used to diagnose PMS with typical women, was…

  4. Williams syndrome

    Science.gov (United States)

    Williams-Beuren syndrome ... Williams syndrome is caused by not having a copy of several genes. It may be passed down in families. ... history of the condition. However, people with Williams syndrome have a 50% chance of passing the disorder ...

  5. Major sickle cell syndromes in children in Kenitra, Morocco

    Directory of Open Access Journals (Sweden)

    Khalid Hafiani

    2017-11-01

    Full Text Available Objective: To highlight the epidemiological characteristics and plot the current mapping of the sickle cell syndromes in children under 15 years old. Methods: A descriptive study was conducted on children with sickle cell disease over a period of 4 years (from January 2011 to December 2015 at the Pediatric Department at El Idrissi Regional Hospital Center in Kenitra, Morocco. Results: The mean age of patients was (8.56 ± 3.97 years and the age group 6–15 years was the most affected. The male gender was the most dominant with 60.94% of cases versus 30.06% for females. The homozygous form SS was the most frequently identified (81.25% of cases while the heterozygous form SC was rarely detected (2.08%. Conclusions: Sickle cell anemia remains a reality in Morocco and may not be perfectly understood yet by health professionals. A screening policy and a sustainable management program can prevent hemoglobinopathies in the studied region. An action plan must be implemented at national level to improve the quality of management of main sickle cell syndromes.

  6. Coexistence of Reverse Capgras Syndrome, Subjective Double and Cotard Syndrome

    Directory of Open Access Journals (Sweden)

    Azadeh Mashayekhi

    2016-01-01

    Full Text Available Misidentification syndrome is a condition in which the person thinks that familiar persons have been replaced with other one. Coexistence of some types of this syndrome has been reported with other psychiatric syndromes. In this report, we present a 47-year-old married man with coexistence of reverse Capgras and subjective double syndromes with Cotard syndrome. There is no previous report of coexistence of these three forms of delusions in a single case.

  7. Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome).

    Science.gov (United States)

    Bresler, Scott C; Padwa, Bonnie L; Granter, Scott R

    2016-06-01

    Nevoid basal cell carcinoma syndrome, or basal cell nevus syndrome (Gorlin syndrome), is a rare autosomal dominantly inherited disorder that is characterized by development of basal cell carcinomas from a young age. Other distinguishing clinical features are seen in a majority of patients, and include keratocystic odontogenic tumors (formerly odontogenic keratocysts) as well as dyskeratotic palmar and plantar pitting. A range of skeletal and other developmental abnormalities are also often seen. The disorder is caused by defects in hedgehog signaling which result in constitutive pathway activity and tumor cell proliferation. As sporadic basal cell carcinomas also commonly harbor hedgehog pathway aberrations, therapeutic agents targeting key signaling constituents have been developed and tested against advanced sporadically occurring tumors or syndromic disease, leading in 2013 to FDA approval of the first hedgehog pathway-targeted small molecule, vismodegib. The elucidation of the molecular pathogenesis of nevoid basal cell carcinoma syndrome has resulted in further understanding of the most common human malignancy.

  8. Aicardi Syndrome

    Science.gov (United States)

    ... from Aicardi-Goutieres syndrome, which is an inherited encephalopathy that affects newborn infants.) × Definition Aicardi syndrome is a rare genetic ... from Aicardi-Goutieres syndrome, which is an inherited encephalopathy that affects newborn infants.) View Full Definition Treatment There is no ...

  9. [Metabolic syndrome in adults from 20 to 40 years old in a rural Mexican community].

    Science.gov (United States)

    Echavarría-Pinto, Mauro; Hernández-Lomelí, Adrián; Alcocer-Gamba, Marco Antonio; Morales-Flores, Héctor; Vázquez-Mellado, Alberto

    2006-01-01

    Metabolic syndrome is the main health problem in Mexico. Its two principal complications (ischemic cardiopathy and type-2 diabetes) are the two main causes of death in Mexico since 2000. To describe the prevalence of the metabolic syndrome in adults from 20 to 40 years old in a Mexican rural community (Senegal de Palomas, San Juan del Río, Querétaro) using the National Cholesterol Education Program (NCEP III) definition. A descriptive study with a random sample was carried out. We present a univariate analysis with a 95% confidence interval. 73 cases were studied. The prevalence of the metabolic syndrome was 45.2% slightly higher in men (48.4%) than in women (42.8%). The prevalence of hypertension was 27.3%. The prevalence of obesity was 26.1% using the definition of the WHO and this prevalence rises up to 49.4% using the definition of the Mexican Official Norm. 90.5% of women and 93.5% of men had low HDLc. The prevalence of metabolic syndrome in adults from 20 to 40 years old in this Mexican rural community is much higher than the national mean for the same age cohort. The results show the necessity to increase the research of our rural communities in order to identify the possible causes to this problem and to create therapeutic programs for patients with metabolic syndrome.

  10. Depressive syndromes among female caregivers of schizophrenic patients in prof. dr. m. ildrem mental hospital medan

    Science.gov (United States)

    Handi, A.; Husada, M. S.; Gultom, D. P.

    2018-03-01

    Caring for schizophrenic patients can lead to emotional distress. It remains unclear about the level of depressive syndromes among female caregivers of schizophrenic patients. To determine the level of depression among female caregivers of schizophrenic patients. This is a descriptive study with a cross-sectional approach to describe the level of depression of female caregivers in Prof. dr. M. Ildrem Mental Hospital Medan, using HADS instruments. Most age group of caregivers is from age 51-60 years that is 48.15%, caregiver’s work status mostly not works (62.96%), marital status of caregiver mostly is married (59.26%), kinship with most patients are a biological mother (57.41%). Most patient age group is from age below 30 years (50%), work status of most patients is not working (81.48%), marital status of most caregiver is married (83.33%). Mostly of the depressive syndrome is mild depression (42.59%). Mostly of the depressive syndrome is from mild depression.

  11. [Arterial hypertension and sleep apnea hypopnea syndrome in primary care].

    Science.gov (United States)

    Bayó Llibre, J; Riel Cabrera, R; Mellado Breña, E; Filomena Paci, J; Priego Artero, M; García Alfaro, F J; Grau Granero, J M; Vázquez González, D; López Solana, J; Fernández San Martín, M I

    2015-01-01

    Sleep apnea hypopnea syndrome (SAHS) is frequent in hypertensive patients and plays a role in a greater incidence of cardiovascular morbidity-mortality. This study aims to know the clinical profile of hypertensive patients with SAHS compared to hypertensive patients without SAHS to know which variables should be used to orient their screening from primary care. An observational, descriptive, retrospective study of cases (hypertensive patients with SAHS) and controls (hypertensive patients without) was performed in an urban health care center. Based on a computerized registry of the site, patients diagnosed of SAHS and hypertension over 30 years of age were selected. For each case, one control case of hypertensive patients without SAHS paired by age and gender was randomly obtained. A total of 64 cases and 64 controls were selected. Standing out in the bivariate analysis were greater BMI (34.3±12.8 vs. 28.6±3.6), predominance of obesity (70.3 vs. 35.9%), metabolic syndrome (77.3 vs. 42.2%), consumption of psychopharmaceuticals (19.7 vs. 7.8%) and anithypertensive drugs (26.5 vs. 14.0%), ischemic heart disease (20.3 vs. 9.4%) in the case group versus control group (P<.05 for all the variables). The multivariate analysis showed that only the presence of metabolic syndrome was related with the presence of SAHS in hypertensive patients (OR 4.65; 95% CI: 2.03-10.64; P<.001). Screening for SAHS should be performed in hypertensive patients seen in primary care if they have metabolic syndrome criteria. Copyright © 2014 SEHLELHA. Published by Elsevier Espana. All rights reserved.

  12. LANGUE(S ÉPHÉMÈRE(S : PARLERS JEUNES, SMS ET VERLAN, UN TOURBILLON LINGUISTIQUE RÉINVENTANT LE LANGAGE STANDARD ET LA NORME ? / EPHEMERAL LANGUAGE(S: YOUNG DIALECTS, SMS AND VERLAN. A LINGUISTIC WHIRLPOOL REINVENTING STANDARD LANGUAGE AND NORM? / LIMBA/LIMBILE EFEMERE: DIALECTELE NOI, SMS ŞI VERLAN, UN VÂRTEJ LINGVISTIC CARE REINVENTEAZĂ LIMBAJUL STANDARD ŞI NORMA?

    Directory of Open Access Journals (Sweden)

    Loredana Trovato

    2013-11-01

    Full Text Available Cet article veut réfléchir sur l’idée d’éphémère en tant « qu’apanage de notre modernité » dans les formes de communication actuelles, telles que les parlers jeunes, le SMS et le verlan (en particulier, le verlan utilisé dans les chansons rap et slam. Si Thierry Bulot met en évidence le fait que la langue – en tant que norme – n’évolue plus, elle continue cependant de changer, de se métamorphoser en un organisme ductile, versatile et façonnable selon les exigences de la société contemporaine. Car, comme l’indiquait Vivienne Méla il y a vingt ans désormais, ces langues sont le véritable « miroir » des individus qui les parlent, les vivent, les « habitent ». Et pourtant, elles sont éphémères parce qu’elles refusent la norme, mais aussi parce que la norme les refuse. Nos exemples chercheront à illustrer tous les niveaux de description linguistique, afin de montrer que ces langues sont comme une sorte de tourbillon linguistique bouleversant le français standard et même si elles restent dans le domaine de l’éphémère, elles ne perdent pas leur valeur et leur importance pour le développement dynamique des sociétés. Il s’ensuit qu’il est possible d’attribuer une connotation positive à l’éphémère comme une nouvelle dimension linguistique dans les mouvements évolutifs de la société complexe.

  13. Gross and fine motor skills of children with Hurler syndrome (MPS-IH) post umbilical cord blood transplantation: a case series report.

    Science.gov (United States)

    Dusing, Stacey C; Rosenberg, Angela; Hiemenz, Jennifer R; Piner, Shelley; Escolar, Maria

    2005-01-01

    Recent advancements in medical treatment of Hurler syndrome have resulted in longer life expectancies and a greater need for therapeutic services. The purpose of this case series is to provide recommendations for assessing children with Hurler syndrome after umbilical cord blood transplant (UCBT). CLINICAL DESCRIPTIONS: Two children with Hurler syndrome were seen for longitudinal assessments following an UCBT for Hurler syndrome. The raw scores and percentage of fine and gross motor items each child completed on the Motor Scale of the Bayley Scales of Infant Development II (BSID-II) were reviewed. Both children gained new motor skills with each successive motor assessment. Both children were able to complete a higher percentage of fine motor skills than gross motor skills in the most advanced item set assessed. The children presented in these two case reports both had better fine motor skills than gross motor skills, which inflated their standard scores on the BSID-II. Clinicians assessing children with Hurler syndrome should use standardized assessments that allow for differentiation of fine and gross motor skills to prevent this situation.

  14. A modified van der Pol equation with delay in a description of the heart action

    Directory of Open Access Journals (Sweden)

    Zduniak Beata

    2014-12-01

    Full Text Available In this paper, a modified van der Pol equation is considered as a description of the heart action. This model has a number of interesting properties allowing reconstruction of phenomena observed in physiological experiments as well as in Holter electrocardiographic recordings. Our aim is to study periodic solutions of the modified van der Pol equation and take into consideration the influence of feedback and delay which occur in the normal heart action mode as well as in pathological modes. Usage of certain values for feedback and delay parameters allows simulating the heart action when an accessory conducting pathway is present (Wolff-Parkinson-White syndrome.

  15. Fournier gangrene associated with hyper IgE syndrome (Job syndrome).

    Science.gov (United States)

    Hori, Junichi; Yamaguchi, Satoshi; Watanabe, Masaki; Osanai, Hiroaki; Hori, Masako

    2008-04-01

    We report a case of a 32-year-old man with hyper IgE syndrome (Job syndrome) who developed Fournier gangrene due to infectious multiple atheromas of the scrotal skin that progressed to the right groin and thigh. The patient required surgical debridement and subsequent skin grafting. This is a rare case of Fournier gangrene associated with hyper IgE syndrome (Job syndrome). When a patient without diabetes mellitus has repeated infections and atopic-like dermatitis, Job syndrome should be considered.

  16. Down Syndrome

    Science.gov (United States)

    ... Down syndrome increases as a woman gets older. Down syndrome cannot be cured. Early treatment programs can help improve skills. They may include ... occupational, and/or educational therapy. With support and treatment, many ... Down syndrome live happy, productive lives. NIH: National Institute of ...

  17. Meilleures perspectives d'emploi dans le Mékong | IDRC ...

    International Development Research Centre (IDRC) Digital Library (Canada)

    Ce projet traitera des effets de la croissance économique rapide dans la région du bassin du Mékong sur les emplois pour les jeunes. Les chercheurs analyseront le marché du travail de six pays, en se concentrant sur les caractéristiques et les politiques qui entravent ou favorisent la création d'emplois pour les jeunes.

  18. Publications | Page 86 | CRDI - Centre de recherches pour le ...

    International Development Research Centre (IDRC) Digital Library (Canada)

    La recherche sur la criminalité chez les jeunes fait ressortir la nécessité d'investir dans le capital social. Une étude novatrice réalisée par des chercheurs du Canada, du Salvador et du Nicaragua fournit des indices sur la manière de prévenir la criminalité chez les jeunes. Richard Maclure, de la.

  19. Publications | Page 87 | CRDI - Centre de recherches pour le ...

    International Development Research Centre (IDRC) Digital Library (Canada)

    La recherche sur la criminalité chez les jeunes fait ressortir la nécessité d'investir dans le capital social. Une étude novatrice réalisée par des chercheurs du Canada, du Salvador et du Nicaragua fournit des indices sur la manière de prévenir la criminalité chez les jeunes. Richard Maclure, de la.

  20. Résultats de recherche | Page 4 | CRDI - Centre de recherches pour ...

    International Development Research Centre (IDRC) Digital Library (Canada)

    Le chômage persistant chez les jeunes qui vivent dans des collectivités à faible revenu (on les appelle aussi " jeunes à risque ") est relié en partie au mauvais fonctionnement du marché du travail dans les pays en développement. Projet. -. Bourse de recherche postdoctorale sur l'Amérique centrale et les Caraïbes au ...

  1. Role of community pharmacists in the prevention and management of the metabolic syndrome in Kuwait.

    Science.gov (United States)

    Katoue, Maram G; Awad, Abdelmoneim I; Kombian, Samuel B

    2013-02-01

    The metabolic syndrome is a cluster of cardiovascular risk factors and its prevalence is alarmingly high in Kuwait, affecting nearly one third of the adult population. There is lack of information about the role of community pharmacists in the care of patients with the metabolic syndrome. To assess the awareness and opinions of community pharmacists about the metabolic syndrome and identify the services they provide for identification, management and monitoring of patients with the metabolic syndrome. Community pharmacies in Kuwait. A descriptive, cross-sectional study was performed on a randomly selected sample of 225 community pharmacists. Data were collected via face-to-face structured interview of the pharmacists using a pre-tested questionnaire. Pharmacists' knowledge and views on the metabolic syndrome, monitoring services provided, self-reported practices and perceived effectiveness of the various management interventions for the metabolic syndrome. The response rate was 97.8 %. Nine pharmacists claimed to know about the metabolic syndrome, but only one pharmacist could identify the condition correctly. After being given a definition of the metabolic syndrome, 67.7 % of respondents strongly agreed that its prevalence was rising in Kuwait. Nearly two thirds of respondents reported providing height and weight measurement service while 82.7 and 59.5 % of pharmacies provided blood pressure and blood glucose measurements, respectively. Waist circumference and lipid profile measurements were the least provided services (1.8 %). Respondents claimed to be involved in counseling patients on lifestyle modifications including increased exercise (98.1 %) and weight reduction through diet (96.9 %). Most pharmacists were involved in encouraging patients' adherence with prescribed treatments (98.6 %) and perceived these as the most effective intervention for the management of the metabolic syndrome (95.0 %). Respondents were less involved in monitoring patients' response

  2. Passages de frontières. Le voyage de la jeune mariée dans la haute noblesse des temps modernes (XVe-XVIIIe siècle

    Directory of Open Access Journals (Sweden)

    Christiane Coester

    2012-06-01

    Full Text Available Même si l’historiographie française a surtout retenu le voyage des infantes espagnoles vers le royaume de France et celui de Marie-Antoinette en 1770, les voyages nuptiaux vers la résidence du futur(e époux (se étaient en usage dans toute l’Europe du XVe au XVIIIe siècle. S’il n’existe à priori qu’un seul texte normatif (De institutione vivendi écrit par Diomeda Carafa en 1476, bien d’autres sources permettent d’étudier ces voyages sans retour (correspondances, récits de voyage, journaux et brochures, comptes princiers, etc.. Après avoir présenté une typologie de ces voyages nuptiaux, l’article se focalise sur le voyage le plus classique, celui qui conduit, à travers toute une série d’étapes codifiées, une jeune femme de la demeure parentale à celle de son époux. L’un des moments les plus importants de ce périple est sans nul doute le passage de la frontière car il s’accompagne de nombreuses représentations des différences culturelles réelles ou supposées tout en coïncidant avec le passage du statut de fille à celui d’épouse. À son arrivée à la cour de son époux, la fiancée se doit d’adopter les codes vestimentaires et les coiffures qui y sont à la mode, à la fois pour manifester sa volonté d’insertion mais aussi pour plaire à son mari. Les exemples de voyages nuptiaux étudiés à travers toute l’Europe manifestent finalement de nombreux points communs. Ce processus de transformation individuelle s’insère dans un autre plus vaste d’échange entre deux cours. Il ne s’agit pas seulement d’un déplacement dans l’espace mais aussi d’un changement de cadres des référents culturels (langue, mode, alimentation etc. souvent douloureux pour la jeune femme même s’il existe un certain nombre de cas d’intégration réussie, comme Anne d’Este ou encore Anne d’Autriche.While French historians have tended to focus on the nuptial trips of the Spanish infantes to the

  3. TAFRO Syndrome.

    Science.gov (United States)

    Igawa, Takuro; Sato, Yasuharu

    2018-02-01

    TAFRO syndrome is a newly recognized variant of idiopathic multicentric Castleman disease (iMCD) that involves a constellation of syndromes: thrombocytopenia (T), anasarca (A), fever (F), reticulin fibrosis (R), and organomegaly (O). Thrombocytopenia and severe anasarca accompanied by relatively low serum immunoglobulin levels are characteristic clinical findings of TAFRO syndrome that are not present in iMCD-not otherwise specified (iMCD-NOS). Lymph node biopsy is recommended to exclude other diseases and to diagnose TAFRO syndrome, which reveals characteristic histopathological findings similar to hyaline vascular-type CD. TAFRO syndrome follows a more aggressive course, compared with iMCD-NOS, and there is no standard treatment. Copyright © 2017 Elsevier Inc. All rights reserved.

  4. [Prevalence of burnout syndrome in health professionals of an onco-hematological pediatric hospital].

    Science.gov (United States)

    Zanatta, Aline Bedin; Lucca, Sergio Roberto de

    2015-04-01

    To identify the prevalence of Burnout Syndrome in medical professionals, nurses and nursing technicians working in an Onco-Hematological Pediatric Hospital in São Paulo. An exploratory, descriptive study with cross-sectional design and quantitative approach, with a sample of 188 health professionals. Data were collected using two self-report instruments: the Maslach Burnout Inventory (MBI-HSS) which is a biosocial data form, and a non-participant observation guide. High depersonalization for nurses (29.8%), low job performance for physicians (27.8%), and of nursing technicians (25.5%). High scores were identified in at least two domains of Burnout in 19.2% of nurses, 16.8% of nursing technicians, and 16.6% of doctors. Health professionals are highly vulnerable to each of the dimensions of Burnout syndrome - namely emotional exhaustion, alienation, and low job performance/satisfaction- in the hospital work.

  5. Development and characteristics of children with Usher syndrome and CHARGE syndrome.

    Science.gov (United States)

    Dammeyer, Jesper

    2012-09-01

    Individuals with Usher syndrome or CHARGE syndrome are faced with a number of difficulties concerning hearing, vision, balance, and language development. The aim of the study is to describe the developmental characteristics of children with Usher syndrome and CHARGE syndrome, respectively. Data about the developmental characteristics of 26 children with Usher syndrome and 17 children with CHARGE syndrome was obtained. Associations between deafblindness (dual sensory loss), motor development (age of walking), language abilities, and intellectual outcome of these children were explored for each group independently. Both groups of children face a number of difficulties associated with vision, hearing, language, balance and intellectual outcome. Intellectual disability and/or language delay was found among 42% of the children with Usher syndrome and among 82% of the children with CHARGE syndrome. Intellectual disability was associated with language delay and age of walking for both groups. Even though Usher and CHARGE are two different genetic syndromes, both groups are challenged with a number of similar developmental delays. Clinicians need to be aware of several developmental issues in order to offer adequate support to children with Usher or CHARGE syndrome. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

  6. A descriptive social and health profile of a community sample of adults and adolescents with Asperger syndrome

    Directory of Open Access Journals (Sweden)

    Tantam Digby

    2010-11-01

    Full Text Available Abstract Background Little is known about the health and social profile of adolescents and adults with Asperger syndrome (AS living in the community. We conducted a study to describe the living, employment and psycho-social situation of a community sample of forty two adults and adolescents with AS, and to describe these indivdiuals' experiences of accessing health services and taking medication. Findings Most respondents (including those over eighteen years of age lived at home with their parents. Most had trouble reading and responding to other people's feelings, and coping with unexpected changes. Difficulties with life skills, such as cleaning, washing and hygiene were prevalent. The majority of respondents were socially isolated and a large minority had been sexually or financially exploited. Almost all respondents had been bullied. Mental health problems such as anxiety or depression were common. 30% of respondents said that they regularly became violent and hit other people and 15% had attempted suicide. More positively, the majority of respondents felt that they could access health services if they had a health problem. Conclusions The results of this study suggest a relatively poor social and health profile for many people with Asperger syndrome living in the community, with high levels of social problems and social exclusion, and difficulties managing day to day tasks such as washing and cleaning; these findings support the results of other studies that have examined psycho-social functioning in this group.

  7. Pregnancy outcome in joint hypermobility syndrome and Ehlers-Danlos syndrome.

    Science.gov (United States)

    Sundelin, Heléne E K; Stephansson, Olof; Johansson, Kari; Ludvigsson, Jonas F

    2017-01-01

    An increased risk of preterm birth in women with joint hypermobility syndrome or Ehlers-Danlos syndrome is suspected. In this nationwide cohort study from 1997 through 2011, women with either joint hypermobility syndrome or Ehlers-Danlos syndrome or both disorders were identified through the Swedish Patient Register, and linked to the Medical Birth Register. Thereby, 314 singleton births to women with joint hypermobility syndrome/Ehlers-Danlos syndrome before delivery were identified. These births were compared with 1 247 864 singleton births to women without a diagnosis of joint hypermobility syndrome/Ehlers-Danlos syndrome. We used logistic regression, adjusted for maternal age, smoking, parity, and year of birth, to calculate adjusted odds ratios for adverse pregnancy outcomes. Maternal joint hypermobility syndrome/Ehlers-Danlos syndrome was not associated with any of our outcomes: preterm birth (adjusted odds ratio = 0.6, 95% confidence interval 0.3-1.2), preterm premature rupture of membranes (adjusted odds ratio = 0.8; 95% confidence interval 0.3-2.2), cesarean section (adjusted odds ratio = 0.9, 95% confidence interval 0.7-1.2), stillbirth (adjusted odds ratio = 1.1, 95% confidence interval 0.2-7.9), low Apgar score (adjusted odds ratio = 1.6, 95% confidence interval 0.7-3.6), small for gestational age (adjusted odds ratio = 0.9, 95% confidence interval 0.4-1.8) or large for gestational age (adjusted odds ratio = 1.2, 95% confidence interval 0.6-2.1). Examining only women with Ehlers-Danlos syndrome (n = 62), we found a higher risk of induction of labor (adjusted odds ratio = 2.6; 95% confidence interval 1.4-4.6) and amniotomy (adjusted odds ratio = 3.8; 95% confidence interval 2.0-7.1). No excess risks for adverse pregnancy outcome were seen in joint hypermobility syndrome. Women with joint hypermobility syndrome/Ehlers-Danlos syndrome do not seem to be at increased risk of adverse pregnancy outcome. © 2016 Nordic Federation of

  8. Descriptive set theory

    CERN Document Server

    Moschovakis, YN

    1987-01-01

    Now available in paperback, this monograph is a self-contained exposition of the main results and methods of descriptive set theory. It develops all the necessary background material from logic and recursion theory, and treats both classical descriptive set theory and the effective theory developed by logicians.

  9. Wolf-Hirschhorn (4p-) syndrome with West syndrome.

    Science.gov (United States)

    Motoi, Hirotaka; Okanishi, Tohru; Kanai, Sotaro; Yokota, Takuya; Yamazoe, Tomohiro; Nishimura, Mitsuyo; Fujimoto, Ayataka; Yamamoto, Takamichi; Enoki, Hideo

    2016-01-01

    Wolf-Hirschhorn syndrome (WHS) is a chromosome disorder (4p-syndrome) which is characterized by craniofacial features and epileptic seizures. Here, we report a case of WHS with West syndrome, in whom the seizures were refractory to several antiepileptic drugs but were responsive to the addition of lamotrigine. The patient had epileptic spasms at age seven months. The interictal electroencephalogram was hypsarrhythmic. After adding lamotrigine, seizures decreased remarkably, and spasms disappeared. We have identified and described the very rare case of a girl with WHS who also developed West syndrome. In this case, adding lamotrigine to her medications effectively treated the spasms.

  10. Rowell syndrome

    Directory of Open Access Journals (Sweden)

    Ramesh Y Bhat

    2014-01-01

    Full Text Available Rowell syndrome is a rare disease consisting of erythema multiforme-like lesions associated with lupus erythematosus. The syndrome occurs mostly in middle-aged women. The authors describe the syndrome in a 15-year-old boy who responded well to systemic steroids and hydroxychloroquine.

  11. [Poland's syndrome].

    Science.gov (United States)

    Slezak, R; Sasiadek, M

    2000-08-01

    Poland's syndrome consists of the variable clinical features, but always includes unilateral aplasia of the chest wall muscles and ipsilateral anomalies of upper extremity. The incidence of Poland's syndrome, reported by different authors ranges from 1:10,000 to 1:100,000 and is observed more frequently in males than in females with the right side of the body affected more often than the left. The etiology of this syndrome is still discussed. However most of described cases were sporadic, rare familial incidence of Poland's syndrome were also presented. Therefore different etiologic factors of the Poland's syndrome are taken into account: genetic, vascular compromise during early stages of embriogenesis but also teratogenic effect of environmental xenobiotics (e.g. cigarette smoking by pregnant women). The authors present also the case of 20-years old man with inherited bilateral syndactyly with the right side aplasia of major pectoralis muscle and face asymmetry. The familial history was negative in respect to the features, associated with Poland's syndrome.

  12. Joint attention in Down syndrome: A meta-analysis.

    Science.gov (United States)

    Hahn, Laura J; Loveall, Susan J; Savoy, Madison T; Neumann, Allie M; Ikuta, Toshikazu

    2018-07-01

    Some studies have indicated that joint attention may be a relative strength in Down syndrome (DS), but other studies have not. To conduct a meta-analysis of joint attention in DS to more conclusively determine if this is a relative strength or weakness when compared to children with typical development (TD), developmental disabilities (DD), and autism spectrum disorder (ASD). Journal articles published before September 13, 2016, were identified by using the search terms "Down syndrome" and "joint attention" or "coordinating attention". Identified studies were reviewed and coded for inclusion criteria, descriptive information, and outcome variables. Eleven studies (553 participants) met inclusion criteria. Children with DS showed similar joint attention as TD children and higher joint attention than children with DD and ASD. Meta-regression revealed a significant association between age and joint attention effect sizes in the DS vs. TD contrast. Joint attention appears to not be a weakness for children with DS, but may be commensurate with developmental level. Joint attention may be a relative strength in comparison to other skills associated with the DS behavioral phenotype. Early interventions for children with DS may benefit from leveraging joint attention skills. Copyright © 2018 Elsevier Ltd. All rights reserved.

  13. Burnout Syndrome and Self-Efficacy Beliefs in Professors

    Directory of Open Access Journals (Sweden)

    Arlington Antonio García Padilla

    2017-10-01

    Full Text Available The presence of the Burnout syndrome in professors may be regarded as a deterioration of their mental health with negative impacts on their job performance. It is known that teachers develop different activities in the areas of teaching, outreach and research. This study aims to analyze the relationship between the Burnout syndrome and self-efficacy beliefs and the academic performance in professors of the psychology and dentistry programs at a private university in the city of Barranquilla. This study is empirical and analytical with a descriptive-correlational design. The study population consisted of 93 teachers of the psychology and dentistry programs. To choose the sample, a non-probabilistic sample was used according to the inclusion and exclusion criteria that allowed selecting a total of 36 teachers who met the criteria for the study. The instruments that were used in this study was the Maslach Burnout Inventory (MBI, 1981 adapted by Seisdedos (1997, and the Teachers’ Self-Efficacy Beliefs of Tschannen-Moran and Woolfolk (2001 adapted by Covarrubias and Mendoza (2016. According to the results, it was observed that there is no significant relationship between Burnout, Self-efficacy Belief and the academic performance.

  14. [Gardner syndrome--parent alienation syndrome (PAS). Diagnosis or family reality?].

    Science.gov (United States)

    Namysłowska, Irena; Heitzman, Janusz; Siewierska, Anna

    2009-01-01

    The authors present characteristics of Parental Alienation Syndrome (PAS) proposed by Gardner as well as data, which may help to differentiate that syndrome with real psychological, physical and sexual abuse. The consequences of Gardner Syndrome for legal decisions in the court cases of child custody and the critique of this syndrome in forensic and psychiatric literature are also discussed, and several questions posed. Authors propose to treat Gardner Syndrome not as as a child disorder but as a specific, dynamic family situation, which occurs sometimes, during divorce and fight about child custody.

  15. Prognosis, with evaluation of general biochemistry, of liver disease in lymphoedema cholestasis syndrome 1 (LCS1/Aagenaes syndrome).

    Science.gov (United States)

    Drivdal, Monica; Trydal, Torleif; Hagve, Tor-Arne; Bergstad, Ingunn; Aagenaes, Oystein

    2006-04-01

    To investigate the prognosis of liver disease in Aagenaes syndrome (lymphoedema cholestasis syndrome 1 (LCS1)), which is an autosomal recessive inherited syndrome consisting of neonatal cholestasis with intermittent cholestatic episodes in childhood into adulthood and development of lymphoedema. Forty Norwegian patients are known to have this condition, 25 of whom are alive. A clinical description of the liver disease is supplied with a case-control study. In this paper we review the course of the liver disease in the Norwegian cohort of patients and present results from a case-control study in the patients above 10 years of age. The case-control study was performed on 15 patients without clinical cholestasis (itching and sometimes jaundice) at the time of the study. An evaluation of 11 patients above 15 years of age without chronic biochemical cholestasis (increased alkaline phosphatase (ALP), gamma-glutamyl transferase (GGT) and/or serum bile acids) was also carried out. For each patient one randomly identified control person was included (15 in one study, 11 in the other). Cirrhosis with either transplantation or death in infancy or early childhood occurred in six patients; slowly developing cirrhosis occurred in three patients. Two patients may be in the process of developing cirrhosis. Significantly increased ALP and GGT levels were found in patients with normal liver biochemistry in the preceding years when compared with the case control group. Additionally, albumin was found to be lower in older patients. Compared with that for other types of hereditary neonatal cholestasis, patients with LCS1 have a relatively good prognosis. More than 50% can expect a normal life span.

  16. Burning Mouth Syndrome and "Burning Mouth Syndrome".

    Science.gov (United States)

    Rifkind, Jacob Bernard

    2016-03-01

    Burning mouth syndrome is distressing to both the patient and practitioner unable to determine the cause of the patient's symptoms. Burning mouth syndrome is a diagnosis of exclusion, which is used only after nutritional deficiencies, mucosal disease, fungal infections, hormonal disturbances and contact stomatitis have been ruled out. This article will explore the many causes and treatment of patients who present with a chief complaint of "my mouth burns," including symptomatic treatment for those with burning mouth syndrome.

  17. Marfan Syndrome (For Teens)

    Science.gov (United States)

    ... genetic disorder called Marfan syndrome. What Is Marfan Syndrome? Marfan syndrome is named after Antoine Marfan, the French ... immediately. What's Life Like for Teens With Marfan Syndrome? Marfan syndrome affects people differently, so life is not ...

  18. Learning about Marfan Syndrome

    Science.gov (United States)

    ... Additional Resources for Marfan Syndrome What is Marfan syndrome? Marfan syndrome is one of the most common inherited ... FAQ Top of page Additional Resources For Marfan Syndrome Marfan syndrome [nlm.nih.gov] From Medline Plus Marfan ...

  19. Divorce in families of children with Down Syndrome or Rett Syndrome.

    Science.gov (United States)

    Lederman, Vivian Renne Gerber; Alves, Bianca dos Santos; Negrão, Juliana; Maria, Juliana Negrão; Schwartzman, José Salomão; D'Antino, Maria Eloisa Famá; Brunoni, Decio

    2015-05-01

    This study evaluates the impact in the stability and management of the marriage of parents of a child with Down or Rett Syndrome. Morbidity of the syndromes and the marital status of the couples before and after the birth of the affected children were considered variables. The divorce rate in families with Down syndrome was 10%, similar to the Brazilian rate population. In Rett Syndrome, the divorce rate was significantly higher, 23.5%. The higher morbidity of Rett Syndrome, and the moment of diagnosis could be relevant factors for the increased divorce rate related to this syndrome.

  20. The sick-building syndrome; Das Sick-Building-Syndrom

    Energy Technology Data Exchange (ETDEWEB)

    Henne, A.; Neumann, H.F.; Winneke, G.

    1992-12-31

    The sick-building syndrome is characterized by the presence of general, non-specific symptoms (e.g., headache, tiredness, respiratory problems, eye trouble, vertigo, nausea, unspecific hypersensitivity) in association with a particular indoor ambience. It is clearly distinguishable from `building-related illness`, referring to a well-defined clinical syndrome due to staying in a building and for which a cause can, in general, be established. Disorders in the case of the sick-building syndrome are manifold and confirmed objectifiable results are hardly available so far. Yet there are some organ-related methods for the confirmation of findings concerning, for instance, the eyes, the skin and the area of the nose. The causes of the incidence of sick-building syndrome are more or less unclear. It is a multifactorial phenomenon involving physical, biological, chemical, individual-specific and psychological factors. Buildings where sick-building syndrome occurs typically exhibit certain properties. The European Community has already made proposals for the investigation of incriminated buildings. A systematic survey by questionnaire together with individual interviews plays an import part towards clarifying the syndrome. (orig./UWA) [Deutsch] Das Sick-Building-Syndrom beschreibt das Vorhandensein von allgemeinen, nicht spezifischen Symptomen (z.B. Kopfschmerzen, Muedigkeit, Atembeschwerden, Augenreizungen, Schwindelgefuehl, Uebelkeit, unspezifische Ueberempfindlichkeit), assoziiert mit einer besonderen Innenraumumgebung. Deutlich hiervon abzugrenzen ist die ``Building related illness``, bei der ein klinisch definiertes Krankheitsbild vorliegt, das durch den Aufenthalt im Gebaeude verursacht wird und fuer das im allgemeinen eine Ursache ermittelt werden kann. Das Beschwerdebild beim Sick-Building-Syndrom ist vielfaeltig, und gesicherte, objektivierbare Befunde liegen hierzu bisher kaum vor. Dennoch gibt es einige organbezogenen Methoden zur Befundabsicherung, z.B. fuer das

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