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Sample records for sordera neurosensorial severo-profunda

  1. Sorderas neurosensoriales no sindrómicas: Análisis de la herencia en 10 familias

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    Ibis Menéndez

    1998-06-01

    Full Text Available Se reportan los árboles genealógicos de 10 probandos afectados con sorderas neurosensoriales no sindrómicas de aparición familiar. El análisis genético practicado permitió reconocer la clara segregación de un único gen de sordera en 7 familias (3 autosómicas recesivas, 2 autosómicas dominantes, 1 ligada al cromosoma X, 1 con herencia mitocondrial. En las 3 familias restantes resultó difícil el análisis y se propuso la herencia recesiva como la más probable, sobre la base, fundamentalmente, de las características de la pérdida auditiva (congénita, bilateral, severa o profunda. En general las sorderas autosómicas recesivas fueron las más frecuentes. Se corrobora que estos estudios suelen ser complicados por la gran heterogeneidad que pueden presentar a todos los niveles las sorderas neurosensoriales no sindrómicas.The pedigress of 10 examiness affected with non syndrome neurosensorial deafness of familial appearance were erported. The genetical analysis made allowed to recognize the clear segregation of a sale gene of deafness in 7 families (3 recessive autosomal, 2 dominant autosomal, 1 linked to cromosome X, and 1 with mitochondrial heredity. In the other 3 hamilies the analysis was difficult and the recessive heredity was suggested as the most probable, based mainly on the characteristics of auditive loss (congenital, bilateral, severe or deep. In general, the recessive autosomal deafness was the most common. It was corroborated that these studies are usually complicated due to the great heterogeneity that the non syndromic neurosensorial deafness may present at all levels.

  2. Las sorderas hereditarias: Algunos apuntes necesarios

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    Ibis Menéndez Alejo

    1995-12-01

    Full Text Available Las sorderas congénitas severas tienen una incidencia de 4 a 8 por 1 000 nacidos vivos. El 50 % de éstas son por causas genéticas. La genética molecular abre un camino nuevo para la interpretación, diagnóstico y prevención de las sorderas hereditarias. La localización de genes en sorderas hereditarias no sindrómicas, está muy relacionada con los avances tecnológicos que se han producido, pero depende en particular, de la identificación de familias numerosas cuyos miembros estén debidamente estudiados desde el punto de vista clínico, audiológico y genético. Para ello resulta imprescindible que el audiólogo posea conocimientos básicos de genética, el genetista conocimientos básicos de dicha especialidad y el médico de la familia esté advertido del papel crucial que desempeña la genética en estos cuadros.

  3. Hipoacusia neurosensorial infantil

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    Santos Santos, Saturnino

    2004-01-01

    En nuestro medio existe un déficit de información acerca de la importancia de los factores de riesgo implicados en la aparición de hipoacusia neurosensorial infantil y de las etiologías encontradas. Se estudió retrospectivamente una población de 2.656 niños enviados a nuestro centro para valoración auditiva por presentar factores de riesgo. 481 niños fueron diagnosticados de hipoacusia neurosensorial uni o bilateral de cualquier grado. La edad media al diagnóstico de hipoacusia neurosensorial...

  4. Genio y Drama: La Sordera de Beethoven

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    Jorge García Gómez

    2003-08-01

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    Su infancia fue pobre y sometida a los castigos de su padre, quien durante largas horas lo hacía trabajar ante un pequeño clavicémbalo.

    En los años de su sordera profunda no podía tocar ya ningún instrumento y si lo hacía era en forma automática, sin la expresión y brillantez de sus bellos tiempos.

    Ludwig van BeethovenMis inclinaciones desde hace varios años por los problemas de la audición, me han estimulado para aprovechar este momento tan solemne y significativo, con el objeto de disertar y hacer un ensayo biográfico sobre uno de los grandes genios de todos los tiempos y por el cual los otólogos hemos sentido siempre especial admiración.

    He escogido para este trabajo hacer unas consideraciones sobre la sordera de Ludwig van Beethoven, quien desde muy joven perdió su audición y a pesar de esta invalidez dejó una obra artística impresionante para el mundo que no ha podido ser superada. El tema sólo lo analizaremos desde el punto de vista auditivo.

    La historia tiene el recuento de pacientes sordos ilustres como Goya, prodigioso genio de la pintura española; Juan Jacobo Rousseau, Ronsard, para citar sólo algunos. Pero entre todos ellos se destaca este luminoso genio musical.

    Quiero con este ensayo hacer un análisis de su patología ótica y neurológica y explicar cómo fue posible que él compusiera tan brillantes obras a pesar de su pérdida auditiva. Su historia clínica ha sido estudiada por internistas y psiquiatras y poco se ha escrito sobre su patología ótica que hoy podemos entender mejor a la luz de los conocimientos de la fisiología audiológica y de los progresos en el tratamiento quirúrgico de la sordera. Nuestra hipótesis de diagnóstico etiológico está basada en el análisis de su biografía, de sus cartas, de su obra y de su historia clínica. Un hecho indiscutible es el que la determinación exacta del tipo de sordera que presentó Beethoven sólo sería posible con un

  5. Expresión fenotípica de una sordera familiar con deleción del gen POU3F4

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    Ibis Menéndez

    1999-12-01

    Full Text Available Se presenta una familia cubana con 5 miembros afectados por una hipoacusia bilateral, congénita, severa, mixta con componente neurosensorial predominante y sin alteraciones morfológicas de oído interno. El patrón de transmisión era compatible con la herencia recesiva ligada al cromosoma X. Los estudios moleculares detectaron una deleción en la región Xq21.1 que implica el gen POU3F4, responsable de la sordera de tipo DFN3. Se hacen comentarios sobre la evidente variabilidad clínica de las sorderas tipo DFN3.A Cuban five-member family affected by a severe congenital bilateral mixed deafness with predominant sensorineural component and without morphological changes in the internal hearing is presented in this study. The transmission pattern was compatible with X-linked recessive heritage. The molecular studies detected a deletion of Xq 21 region involving POU3F4 gene which is responsible for DFN3-type deafness. Comments are made on the obvious clinical variability of DFN3-type deafness.

  6. Sordera, tragedia y muerte de Ludwig van Beethoven

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    Darío Morón Díaz

    2008-07-01

    Full Text Available

    La sordera de Ludwig van Beethoven fue atribuida a distintas enfermedades: a una neuritis
    acústica debido a la fiebre tifoidea, a la sífilis, a la hepatitis, a una colitis, al reumatismo, a abscesos,
    a una criopatia debida al frío y a la osificación del tejido cartilaginoso que conduce al oído ínterno,
    también mencionaron la sarcoidosis.
    Dos hechos fueron fundamentales para desechar tales especulaciones: el primero, la decisión del
    joven Ferdinand Hiller, que el 27 de marzo de 1827 cortó un mechón de cabello del cadáver de Ludwig
    van Beethoven. El segundo, el avance científico de la medicina moderna. Ambos acontecimientos han
    permitido profundizar con certeza en la etiología u origen de la sordera de Beethoven y la variada síntomatología que sufrió el genio musical.

    Esbozo biográfico
    EL 16 de diciembre de 1770, en Bonn, nació Ludwig van Beethoven, hijo de Johann Beethoven y
    Maria Magdalena Keverich; el matrimonio tuvo siete hijos, cuatro fallecieron siendo niños y tres sobrevivieron: Ludwig, Kaspar Antón Karl y Nicolás Johann.
    El padre de Beethoven fue dipsómano, debido a los excesos alcohólicos y en medio de los escándalos el
    padre agredía al niño. Deambulaba entre la Iglesia y la taberna. María Magdalena por el contrario era tierna y afectuosa con su hijo, situación que por contraste servía de refugio a Ludwig.

  7. Hipoacusia neurosensorial en un síndrome de Noonan y secuencia Poland Neurosensory hypoacusis in a Noonan's syndrome and Poland's sequence

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    Julianis Loraine Quintero Noa

    2010-09-01

    Full Text Available Se calcula que el 50 % de los casos de sordera profunda en la infancia puede ser de origen genético. Se presenta el caso de un niño de 9 años, atendido en los Servicios de Otorrinolaringología y Genética del Hospital Pediátrico Docente «William Soler», por presentar hipoacusia neurosensorial grave unilateral y displasia congénita de Mondini en el oído izquierdo, del lado contrario a la hipoplasia del músculo pectoral mayor, lo cual coincide con un síndrome de Noonan y secuencia de Poland, que resulta de especial interés. Se constató la hipoacusia con audiometría tonal y potencial evocado auditivo de tallo cerebral. En la tomografía del oído se observó una hipoplasia coclear con agenesia de la espira apical. Se destacan las manifestaciones clínicas y la importancia del estudio otológico e imaginólogico en el diagnóstico de la pérdida auditiva.It is estimated that the 50% of cases of deep deafness during childhood may be or genetic origin. This is the case of a child aged 9 seen in Otorhinolaryngology and Genetics Services of the "Wiliam Soler" Teaching Children Hospital due to a unilateral severe neurosensory hypoacusis and Mondini's congenital dysplasia in left ear contralateral to the major pectoral muscle hypoplasia, an interesting situation. Hypoacusis was confirmed using tone audiometry and auditory evoked potential of brain stem. Ear tomography demonstrated a cochlear hypoplasia with agenesis of apical spiral. The clinical manifestations and the significance of the ontological and imaging study in diagnosis of auditory loss are emphasized.

  8. [Electrophysical effects in combined treatment of neurosensory hypoacusis].

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    Morenko, V M; Enin, I P

    2002-01-01

    The authors consider different methods of electrobiophysical impacts on the body in the treatment of neurosensory hypoacusis: laser beam, laser puncture, electrostimulation, magnetotherapy, magnetolasertherapy, electrophoresis, etc. These methods find more and more intensive application in modern medicine. Further success of physiotherapy for neurosensory hypoacusis depends on adequate knowledge about mechanisms of action of each physical method used and introduction of novel techniques.

  9. Sordera por traumatismo acústico y accidentes auditivos en la Industria

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    Jorge García Gómez

    1979-10-01

    Full Text Available

    SUMARIO Y CONCLUSIONES

    1. La sordera ocupacional debe ser motivo de preocupación en medicina industrial, por cuanto constituye grave problema para los obreros que trabajan en ambiente de intensidades superiores a 90 decibeles. Consideramos de capital importancia iniciar urgente campaña para el estudio preventivo y profilaxis del ruido.

    2. Los efectos que produce el ruído sobre la audición están ampliamente demostrados y, de acuerdo con la experiencia, su incidencia es cada día más frecuente en nuestro medio,
    donde un alto porcentaje del personal obrero trabaja en ambientes sin ninguna protección y con grave peligro para su función auditiva.

    3. La sordera ocupacional presenta características muy definidas, pero sólo un estudio otológico completo y la colaboración entre el otólogo, el ingeniero técnico en acústica y el
    médico industrial permiten definir la conducta por seguir, su profilaxis y su tratamiento.

    4. Las alteraciones orgánicas producidas en el oído por el trauma acústico son permanentes e irreversibles. Las estructuras del órgano de Corti una vez lesionadas no pueden ser
    reemplazadas.

    5. Sugerimos la creación del Comité Nacional de Conservación de la Audición con un programa que incluya:
    a Formación de personal especializado.
    b Estudio, reducción y control del ruído en la industria.
    c Creación de la ficha audiológica obligatoria de ingreso para el personal obrero.
    d Control periódico, protección del personal y adaptación de protectores acústicos.
    el Establecimiento de normas mínimas acústicas en la construcción de las fábricas.

    6. Las tablas de indemnización laboral por sordera deben ser modificadas, adoptando un sistema práctico, conforme con la legislación establecidaen otros países.

  10. Comportamiento de la hipoacusia neurosensorial en niños

    OpenAIRE

    Álvarez Amador, Héctor Eduardo; Vega Ulloa, Nuris; Castillo Toledo, Luis; Santana Álvarez, Jorge; Betancourt Camargo, María de los Ángeles; Miranda Ramos, María de los Ángeles

    2011-01-01

    Fundamento: la hipoacusia neurosensorial en el niño produce graves consecuencias en la adquisición del lenguaje, atributo importante para un aprendizaje y desempeño social adecuados. Objetivo: estudiar el comportamiento de la hipoacusia neurosensorial en niños en la provincia de Camagüey. Método: se realizó un estudio descriptivo sobre el comportamiento de la hipoacusia neurosensorial en niños de la provincia de Camagüey en el período comprendido de enero de 2007 a diciembre de 2009. El unive...

  11. Surdez: da suspeita ao encaminhamento Sordera: de la sospecha al encaminamiento Deafness: from suspicion to referral for intervention

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    Angélica Bronzatto P. Silva

    2012-06-01

    Full Text Available OBJETIVO: Investigar a vivência das mães entre a suspeita, o diagnóstico de surdez e o encaminhamento para habilitação, bem como a percepção delas a respeito da forma como foi dado e explicado o diagnóstico. MÉTODOS: Estudo qualitativo com dez mães ouvintes com filhos surdos que frequentavam atendimento especializado em Centro de Estudos e Pesquisas em Reabilitação, no estado de São Paulo, há pelo menos dois anos. Realizou-se entrevista semiestruturada com as mães e foi feita análise da fala das participantes, buscando compreender o sentido que as mães deram à sua comunicação. RESULTADOS: Apesar do diagnóstico de seis crianças ter sido feito antes de um ano de idade e, considerando-se os múltiplos sentimentos das mães frente à surdez de seus filhos, observou-se que, em alguns casos, o diagnóstico poderia ter ocorrido antes se a fala das mães fosse valorizada. Percebeu-se dificuldade de "escuta" dos profissionais da saúde em relação às dúvidas, queixas e questionamentos das mães. Constatou-se que, em alguns casos, mesmo quando ocorreu a triagem auditiva neonatal ou o diagnóstico oportuno, retardou-se o atendimento à criança porque não foram feitos encaminhamentos adequados para locais que trabalham na área da surdez. No momento do diagnóstico, a forma como foi comunicada a surdez à família necessitaria levar em consideração as condições sociais, culturais e emocionais das mães. CONCLUSÕES: Ressalta-se a importância da qualificação e atenção dos profissionais de saúde, para possibilitar o diagnóstico precoce, o apoio aos pais e o encaminhamento e seguimento adequados para os casos de surdez.OBJETIVO: Investigar la vivencia de las madres entre la sospecha, el diagnóstico de sordera y el encaminamiento para habilitación, así como la percepción de ellas respecto a la forma como se dio y explicó el diagnóstico. MÉTODOS: Estudio cualitativo con diez madres oyentes con hijos sordos que

  12. Risk factors of neurosensory disturbance following orthognathic surgery.

    Science.gov (United States)

    Alolayan, Albraa Badr; Leung, Yiu Yan

    2014-01-01

    To report the incidence of objective and subjective neurosensory disturbance (NSD) after orthognathic surgery in a major orthognathic centre in Hong Kong, and to investigate the risk factors that contributed to the incidence of NSD after orthognathic surgery. A retrospective cross-sectional study on NSD after orthognathic surgery in a local major orthognathic centre. Patients who had bimaxillary orthognathic surgery reviewed at post-operative 6 months, 12 months or 24 months were recruited to undergo neurosensory tests with subjective and 3 objective assessments. Possible risk factors of NSD including subjects' age and gender, surgical procedures and surgeons' experience were analyzed. 238 patients with 476 sides were recruited. The incidences of subjective NSD after maxillary procedures were 16.2%, 13% and 9.8% at post-operative 6 months, 12 months and 24 months, respectively; the incidences of subjective NSD after mandibular procedures were 35.4%, 36.6% and 34.6% at post-operative 6 months, 12 months and 24 months, respectively. Increased age was found to be a significant risk factor of NSD after orthognathic surgery at short term (at 6 months and 12 months) but not at 24 months. SSO has a significantly higher risk of NSD when compared to VSSO. SSO in combination with anterior mandibular surgery has a higher risk of NSD when compared to VSSO in combination with anterior mandibular surgery or anterior mandibular surgery alone. Gender of patients and surgeons' experience were not found to be risk factors of NSD after orthognathic surgery. The incidence of NSD after maxillary and mandibular orthognathic procedures at post-operative 6 months, 12 months and 24 months was reported. Increased age was identified as a risk factor of short term post-operative NSD but not in long term (24 months or more). Specific mandibular procedures were related to higher incidence of NSD after orthognathic surgery.

  13. Risk factors of neurosensory disturbance following orthognathic surgery.

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    Albraa Badr Alolayan

    Full Text Available OBJECTIVES: To report the incidence of objective and subjective neurosensory disturbance (NSD after orthognathic surgery in a major orthognathic centre in Hong Kong, and to investigate the risk factors that contributed to the incidence of NSD after orthognathic surgery. MATERIALS AND METHODS: A retrospective cross-sectional study on NSD after orthognathic surgery in a local major orthognathic centre. Patients who had bimaxillary orthognathic surgery reviewed at post-operative 6 months, 12 months or 24 months were recruited to undergo neurosensory tests with subjective and 3 objective assessments. Possible risk factors of NSD including subjects' age and gender, surgical procedures and surgeons' experience were analyzed. RESULTS: 238 patients with 476 sides were recruited. The incidences of subjective NSD after maxillary procedures were 16.2%, 13% and 9.8% at post-operative 6 months, 12 months and 24 months, respectively; the incidences of subjective NSD after mandibular procedures were 35.4%, 36.6% and 34.6% at post-operative 6 months, 12 months and 24 months, respectively. Increased age was found to be a significant risk factor of NSD after orthognathic surgery at short term (at 6 months and 12 months but not at 24 months. SSO has a significantly higher risk of NSD when compared to VSSO. SSO in combination with anterior mandibular surgery has a higher risk of NSD when compared to VSSO in combination with anterior mandibular surgery or anterior mandibular surgery alone. Gender of patients and surgeons' experience were not found to be risk factors of NSD after orthognathic surgery. CONCLUSION: The incidence of NSD after maxillary and mandibular orthognathic procedures at post-operative 6 months, 12 months and 24 months was reported. Increased age was identified as a risk factor of short term post-operative NSD but not in long term (24 months or more. Specific mandibular procedures were related to higher incidence of NSD after orthognathic surgery.

  14. Body schema building during childhood and adolescence: a neurosensory approach.

    Science.gov (United States)

    Assaiante, C; Barlaam, F; Cignetti, F; Vaugoyeau, M

    2014-01-01

    In order to perceive and act in its environment, the individual's body and its interactions with the sensory and social environment are represented in the brain. This internal representation of the moving body segments is labeled the body schema. Throughout life, body schema develops based on the sensory information used by the moving body and by its interactions with the environment including other people. Internal representations including body schema and representations of the outside world develop with learning and actions throughout ontogenesis and are constantly updated based on different sensory inputs. The aim of this review is to present some concepts and experimental data about body schema, internal representations and updating process during childhood and adolescence, as obtained using a neurosensory approach. From our developmental studies, it was possible to explore the slow maturation of the sensorimotor representations by examining the anticipatory control. By manipulating proprioceptive and visual information, which are at the heart of the construction of body schema, we wished to highlight notable differences between adolescents and young adults on both a postural and perceptual level, which confirms the late maturation of multisensory integration for central motor control. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

  15. La anamnesis y el examen físico en el estudio genético clínico de las sorderas hereditarias

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    Estela Morales Peralta

    2004-06-01

    Full Text Available Los avances científicos ocurridos en los últimos años ponen a disposición de la medicina, de adelantos tecnológicos que han hecho que algunos planteen que el método clínico está en peligro. En este trabajo se hace un análisis sobre la utilidad del interrogatorio y el examen físico como herramientas útiles para el genetista clínico en el estudio de las sorderas hereditarias.The scientific advances occurred in the last years put at the disposal of medicine technological advances that have made some think that the clinical method is in danger. An analysis is made on the usefulness of the questionnaire and the physical examination as appropriate tools for the clinical geneticist in the study of hereditary deafness.

  16. Passing otoacustic emissions as a complementar method in the topodiagnosis of the neurosensories hearing loss

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    Franceschi, Cacineli Marion de

    2010-03-01

    Full Text Available Introduction: To evaluate the otoacustic emissions (EOAETs in patients with neurosensory hearing loss do not belong to the clinical routine. However it would obtain valuables information concerning the topodiagnosis. Objective: To identify signs of retro cochlear alteration in individuals with neurosensory dysacusis diagnosis. Method: A transversal, observational, quantitative and, prospective study. Were analyzed 34 patients' records of users of the Speech Therapy Attendance Service. In the study were included individuals with neurosensory hearing loss of moderate to deep degree. An evaluation of Passing Otoacustic Emissions (EOAETs was performed in all the individuals of the sample. Those that do not presented EOAETs had the external and middle ear' condition evaluates through meatoscopy and tympanometry to eliminate ears with sings of conductive alteration. Results: Before that the exclusion criteria were applied, they have remained 13 individuals, totalizing 26 ears: four with hearing loss of moderate degree (15%, four with moderately severe degree (15%, two with severe degree (8%, 15 with deep degree (58% and, one with deafness (4%. The tympanometric curves found were 22 (85% Type A and, four (15% Type C. It was verified the presence of EOAETs in only two ears (8% of a same individual. Conclusion: It was verified the predominance of the EOAETs absence in individuals with neurosensory hearing loss of moderate to deep degree. In one case the EOAETs were registered, that suggest retrocochlear alteration. Raising suspicion of retrocochlear alterations.

  17. Applied neuroanatomy elective to reinforce and promote engagement with neurosensory pathways using interactive and artistic activities.

    Science.gov (United States)

    Dao, Vinh; Yeh, Pon-Hsiu; Vogel, Kristine S; Moore, Charleen M

    2015-01-01

    One in six Americans is currently affected by neurologic disease. As the United States population ages, the number of neurologic complaints is expected to increase. Thus, there is a pressing need for more neurologists as well as more neurology training in other specialties. Often interest in neurology begins during medical school, so improving education in medical neural courses is a critical step toward producing more neurologists and better neurology training in other specialists. To this end, a novel applied neuroanatomy elective was designed at the University of Texas Health Science Center at San Antonio (UTHSCSA) to complement the traditional first-year medical neuroscience course and promote engagement and deep learning of the material with a focus on neurosensory pathways. The elective covered four neurosensory modalities (proprioception/balance, vision, auditory, and taste/olfaction) over four sessions, each with a short classroom component and a much longer activity component. At each session, students reviewed the neurosensory pathways through structured presentations and then applied them to preplanned interactive activities, many of which allowed students to utilize their artistic talents. Students were required to complete subjective pre-course and post-course surveys and reflections. The survey results and positive student comments suggest that the elective was a valuable tool when used in parallel with the traditional medical neuroscience course in promoting engagement and reinforcement of the neurosensory material. © 2014 American Association of Anatomists.

  18. [Cerebral hemodynamics in patients with neurosensory hearing loss before and after magnetotherapy].

    Science.gov (United States)

    Morenko, V M; Enin, I P

    2001-01-01

    Magnetotherapy effects on cerebral hemodynamics were studied using rheoencephalography (REG). When the treatment results and changes in cerebral hemodynamics were compared it was evident that normalization or improvement of vascular status in vertebrobasilar and carotid territories registered at REG results in better hearing. This confirms the role of vascular factor in pathogenesis of neurosensory hypoacusis of different etiology and effectiveness of magnetotherapy in such patients.

  19. Neurosensory sequelae assessed by thermal and vibrotactile perception thresholds after local cold injury.

    Science.gov (United States)

    Carlsson, Daniel; Burström, Lage; Lilliesköld, Victoria Heldestad; Nilsson, Tohr; Nordh, Erik; Wahlström, Jens

    2014-01-01

    Local freezing cold injuries are common in the north and sequelae to cold injury can persist many years. Quantitative sensory testing (QST) can be used to assess neurosensory symptoms but has previously not been used on cold injury patients. To evaluate neurosensory sequelae after local freezing cold injury by thermal and vibrotactile perception thresholds and by symptom descriptions. Fifteen patients with a local freezing cold injury in the hands or feet, acquired during military training, were studied with QST by assessment of vibrotactile (VPT), warmth (WPT) and cold (CPT) perception thresholds 4 months post-injury. In addition, a follow-up questionnaire, focusing on neurovascular symptoms, was completed 4 months and 4 years post-injury. QST demonstrated abnormal findings in one or both affected hands for VPT in 6 patients, for WPT in 4 patients and for CPT in 1 patient. In the feet, QST was abnormal for VPT in one or both affected feet in 8 patients, for WPT in 6 patients and for CPT in 4 patients. Freezing cold injury related symptoms, e.g. pain/discomfort when exposed to cold, cold sensation and white fingers were common at 4 months and persisted 4 years after the initial injury. Neurosensory sequelae after local freezing cold injury, in terms of abnormal thermal and/or vibration perception thresholds, may last at least 4 months after the initial injury. Symptoms such as pain/discomfort at cold exposure, cold sensations and white fingers may persist at least 4 years after the initial injury.

  20. ¿Deficiencia, discapacidad o identidad cultural?: interpretación de la sordera y respuestas en el sistema educativo en España

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    María López-González

    2013-12-01

    Full Text Available En España, en los últimos años, se han experimentado múltiples cambios en la prevención y la atención de las personas con discapacidad, en particular en lo que se refiere a las personas sordas. La interpretación de la sordera no sólo como deficiencia auditiva, sino como una diferencia comunicativa, está llevando a la disposición de contextos educativos con carácter bilingüe y bicultural. Esta nueva perspectiva conceptual y la consecuente orientación de las prácticas escolares tienen un impacto positivo en los campos de la salud, la educación y el ámbito social, fomentando el desarrollo tanto del alumnado sordo, como del alumnado oyente. En este artículo se expone la situación del contexto español en este campo, y ha servido de base para la realización de un proyecto transnacional europeo.

  1. The prognostic value of histopathology on lingual nerve neurosensory recovery after micro-neurosurgery

    DEFF Research Database (Denmark)

    Hørberg, Mette; Reibel, Jesper; Kragelund, Camilla

    2016-01-01

    OBJECTIVE: Micro-neurosurgical repair is considered in permanent nerve damage but the outcome is unpredictable. We examined if histopathologic parameters of traumatic neuromas have a prognostic value for recovery in relation to lingual nerve micro-neurosurgery. MATERIALS AND METHODS: Retrospective...... case study on neurosensory recovery after micro-neurosurgery. Outcome variables were as follows: pain perception, two-point discrimination, and sum score of perception, before and 12 months after micro-neurosurgery. Predictive histopathology variables included size, nerve tissue, and inflammation...

  2. A mitochondrial tRNA(His) gene mutation causing pigmentary retinopathy and neurosensorial deafness.

    Science.gov (United States)

    Crimi, M; Galbiati, S; Perini, M P; Bordoni, A; Malferrari, G; Sciacco, M; Biunno, I; Strazzer, S; Moggio, M; Bresolin, N; Comi, G P

    2003-04-08

    We have identified a heteroplasmic G to A mutation at position 12,183 of the mitochondrial transfer RNA Histidine (tRNA(His)) gene in three related patients. These phenotypes varied according to mutation heteroplasmy: one had severe pigmentary retinopathy, neurosensorial deafness, testicular dysfunction, muscle hypotrophy, and ataxia; the other two had only retinal and inner ear involvement. The mutation is in a highly conserved region of the T(psi)C stem of the tRNA(His) gene and may alter secondary structure formation. This is the first described pathogenic, maternally inherited mutation of the mitochondrial tRNA(His) gene.

  3. Resolution of neurosensory deficit after mandibular orthognathic surgery: A prospective longitudinal study.

    Science.gov (United States)

    Alolayan, Albraa Badr; Leung, Yiu Yan

    2017-05-01

    To investigate the longitudinal resolution of neurosensory deficit (NSD) and the possible risk factors that might contribute to NSD following mandibular orthognathic procedures. A prospective longitudinal observational study on patients who had mandibular orthognathic procedures was performed. Standardized neurosensory assessments were performed. The 2 years longitudinal resolution and risk factors of NSD including patients' age and gender, specific mandibular procedures and surgeons' experience were analyzed. 66 patients (44 females) with 132 sides of mandibular procedures were enrolled in the study. Surgical procedures included mandibular ramus surgery, anterior mandibular surgery, or the combination of the two. The overall occurrences of subjective NSD improved from 78.8% at postoperative 2 weeks to 13.8% at post-operative 2 years. Combinations of ramus surgery and anterior mandibular surgery increased the risk of NSD at the first three post-operative months (p orthognathic surgery. The occurrence of NSD after mandibular orthognathic procedures reduced progressively within the post-operative 2 years. Combination of mandibular ramus surgery and anterior mandibular surgery increased the risk of NSD in the early post-operative period. Copyright © 2017 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

  4. Neurosensory and vascular function after 14 months of military training comprising cold winter conditions.

    Science.gov (United States)

    Carlsson, Daniel; Pettersson, Hans; Burström, Lage; Nilsson, Tohr; Wahlström, Jens

    2016-01-01

    This study aimed to examine the effects of 14 months of military training comprising cold winter conditions on neurosensory and vascular function in the hands and feet. Military conscripts (N=54) were assessed with quantitative sensory testing comprising touch, temperature, and vibration perception thresholds and finger systolic blood pressure (FSBP) after local cooling and a questionnaire on neurosensory and vascular symptoms at both baseline and follow-up. Ambient air temperature was recorded with body worn temperature loggers. The subjects showed reduced sensitivity to perception of touch, warmth, cold and vibrations in both the hands and feet except from vibrotactile perception in digit two of the right hand (right dig 2). Cold sensations, white fingers, and pain/discomfort when exposed to cold as well as pain increased in both prevalence and severity. There were no statistically significant changes in FSBP after local cooling. Fourteen months of winter military training comprising cold winter conditions reduced sensation from touch, warmth, cold, and vibrotactile stimulus in both hands and feet and increased the severity and prevalence of symptoms and pain. The vascular function in the hands, measured by FSBP after local cooling, was not affected.

  5. Ozonoterapia y laserpuntura en el tratamiento de la sordera súbita Ozone therapy and the laser puncture in the treatment of sudden deafness

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    Victoriano Machín González

    2004-12-01

    Full Text Available Uno de los cuadros clínicos de instalación más impresionante que obligan al especialista en Otorrinolaringología a actuar bajo criterios de protocolo clínico y de tratamiento, es la aparición de una hipoacusia neurosensorial de instalación rápidamente progresiva. Causas vasculares, virales e inmunológicas, por sí solas o de manera interactiva, han sido señaladas como responsables de los trastornos que se originan, los cuales confluyen en la pérdida de la audición. Por todas estas razones, nos dimos a la tarea de evaluar los resultados obtenidos tras aplicar la combinación de dos métodos de tratamiento, los cuales, de acuerdo con la información de que se dispone, pueden ser efectivos en la atención de esta patología. Resultado significativo del protocolo de tratamiento fue una tasa de recuperación del 88 % de los pacientes tratadosOne of the most impressive installation clinical pictures that obliges the Otorhinolaryngology specialist to act under the criteria of clinical protocol and treatment is the appearance of a rapidly progressive installation neurosensorial hypoacusia. Vascular, viral and immunological causes by themselves, or in an interactive manner, have been considered responsible for the disorders that are originated and that lead to a clinical picture of auditive loss. For all these reasons, we decided to evaluate the results obtained after applying the combination of two treatment methods, which, according to the available information, may be effective in the attention of this pathology. A significant result of the treatment protocol was the recovery rate of 88 % of the treated patients

  6. Continued expression of GATA3 is necessary for cochlear neurosensory development.

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    Jeremy S Duncan

    Full Text Available Hair cells of the developing mammalian inner ear are progressively defined through cell fate restriction. This process culminates in the expression of the bHLH transcription factor Atoh1, which is necessary for differentiation of hair cells, but not for their specification. Loss of several genes will disrupt ear morphogenesis or arrest of neurosensory epithelia development. We previously showed in null mutants that the loss of the transcription factor, Gata3, results specifically in the loss of all cochlear neurosensory development. Temporal expression of Gata3 is broad from the otic placode stage through the postnatal ear. It therefore remains unclear at which stage in development Gata3 exerts its effect. To better understand the stage specific effects of Gata3, we investigated the role of Gata3 in cochlear neurosensory specification and differentiation utilizing a LoxP targeted Gata3 line and two Cre lines. Foxg1(Cre∶Gata3(f/f mice show recombination of Gata3 around E8.5 but continue to develop a cochlear duct without differentiated hair cells and spiral ganglion neurons. qRT-PCR data show that Atoh1 was down-regulated but not absent in the duct whereas other hair cell specific genes such as Pou4f3 were completely absent. In addition, while Sox2 levels were lower in the Foxg1(Cre:Gata3(f/f cochlea, Eya1 levels remained normal. We conclude that Eya1 is unable to fully upregulate Atoh1 or Pou4f3, and drive differentiation of hair cells without Gata3. Pax2-Cre∶Gata3(f/f mice show a delayed recombination of Gata3 in the ear relative to Foxg1(Cre:Gata3(f/f . These mice exhibited a cochlear duct containing patches of partially differentiated hair cells and developed only few and incorrectly projecting spiral ganglion neurons. Our conditional deletion studies reveal a major role of Gata3 in the signaling of prosensory genes and in the differentiation of cochlear neurosenory cells. We suggest that Gata3 may act in combination with Eya1, Six1, and

  7. [Management of sudden neurosensory hearing loss in a Primary Care Centre].

    Science.gov (United States)

    Muñoz-Proto, F; Carnevale, C; Bejarano-Panadés, N; Ferrán-de la Cierva, L; Mas-Mercant, S; Sarría-Echegaray, P

    2014-04-01

    Sudden hearing loss is a rapid loss of neurosensory hearing that may occur within hours or days in an apparently healthy patient. Its origins are variable and multifactorial. Most patients do not recover hearing if not treated, and some even develop cophosis (deafness) in the affected ear. It is an otological emergency, as early therapeutic management offers a better hearing prognosis. As there is limited knowledge on this condition, it may be underdiagnosed in Primary Health Care Centers. It should be suspected in patients with abrupt hearing loss or tinnitus. Sophisticated instruments are not required for its diagnosis, just a detailed history, basic otoscopy, and proper interpretation of the hearing test. In this way, an accurate diagnosis is achieved in most cases, which is confirmed by audiometry. Copyright © 2012 Sociedad Española de Médicos de Atención Primaria (SEMERGEN). Publicado por Elsevier España. All rights reserved.

  8. Neurosensory analysis of tooth sensitivity during at-home dental bleaching: a randomized clinical trial

    Science.gov (United States)

    Briso, André Luiz Fraga; Rahal, Vanessa; de Azevedo, Fernanda Almeida; Gallinari, Marjorie de Oliveira; Gonçalves, Rafael Simões; dos Santos, Paulo Henrique; Cintra, Luciano Tavares Angelo

    2018-01-01

    Abstract Objective The objective of this study was to evaluate dental sensitivity using visual analogue scale, a Computerized Visual Analogue Scale (CoVAS) and a neurosensory analyzer (TSA II) during at-home bleaching with 10% carbamide peroxide, with and without potassium oxalate. Materials and Methods Power Bleaching 10% containing potassium oxalate was used on one maxillary hemi-arch of the 25 volunteers, and Opalescence 10% was used on the opposite hemi-arch. Bleaching agents were used daily for 3 weeks. Analysis was performed before treatment, 24 hours later, 7, 14, and 21 days after the start of the treatment, and 7 days after its conclusion. The spontaneous tooth sensitivity was evaluated using the visual analogue scale and the sensitivity caused by a continuous 0°C stimulus was analyzed using CoVAS. The cold sensation threshold was also analyzed using the TSA II. The temperatures obtained were statistically analyzed using ANOVA and Tukey's test (α=5%). Results The data obtained with the other methods were also analyzed. 24 hours, 7 and 14 days before the beginning of the treatment, over 20% of the teeth presented spontaneous sensitivity, the normal condition was restored after the end of the treatment. Regarding the cold sensation temperatures, both products sensitized the teeth (p0.05). In addition, when they were compared using CoVAS, Power Bleaching caused the highest levels of sensitivity in all study periods, with the exception of the 14th day of treatment. Conclusion We concluded that the bleaching treatment sensitized the teeth and the product with potassium oxalate was not able to modulate tooth sensitivity. PMID:29742258

  9. Inferior Alveolar Nerve Lateralization and Transposition for Dental Implant Placement. Part II: a Systematic Review of Neurosensory Complications

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    Boris Abayev

    2015-03-01

    Full Text Available Objectives: This article, the second in a two-part series, continues the discussion of inferior alveolar nerve lateralization/transposition for dental implant placement. The aim of this article is to review the scientific literature and clinical reports in order to analyse the neurosensory complications, risks and disadvantages of lateralization/transposition of the inferior alveolar nerve followed by implant placement in an edentulous atrophic posterior mandible. Material and Methods: A comprehensive review of the current literature was conducted according to the PRISMA guidelines by accessing the NCBI PubMed and PMC databases, as well as academic sites and books. The articles were searched from January 1997 to July 2014. Articles in English language, which included adult patients between 18 - 80 years of age who had minimal residual bone above the mandibular canal and had undergone inferior alveolar nerve (IAN repositioning, with minimum 6 months of follow-up, were included. Results: A total of 21 studies were included in this review. Ten were related to IAN transposition, 7 to IAN lateralization and 4 to both transposition and lateralization. The IAN neurosensory disturbance function was present in most patients (99.47% [376/378] for 1 to 6 months. In total, 0.53% (2/378 of procedures the disturbances were permanent. Conclusions: Inferior alveolar nerve repositioning is related to initial transient change in sensation in the majority of cases. The most popular causes of nerve damage are spatula-caused traction in the mucoperiosteal flap, pressure due to severe inflammation or retention of fluid around the nerve and subsequent development of transient ischemia, and mandibular body fracture.

  10. Evaluation of the treatment modalities for neurosensory disturbances of the inferior alveolar nerve following retromolar bone harvesting for bone augmentation.

    Science.gov (United States)

    Nogami, Shinnosuke; Yamauchi, Kensuke; Shiiba, Shunji; Kataoka, Yoshihiro; Hirayama, Bunichi; Takahashi, Tetsu

    2015-03-01

    The purpose of this study was to evaluate the treatment modalities for neurosensory disturbances (NSDs) of the inferior alveolar nerve occurring after retromolar bone harvesting for bone augmentation procedures before implant placement. One hundred four patients, of which 49 and 55 exhibited vertical or horizontal alveolar ridge defects in the mandible and maxilla, respectively, were enrolled. Nineteen patients underwent block bone grafting, 38 underwent guided bone generation or autogenous bone grafting combined with titanium mesh reconstruction, and 47 underwent sinus floor augmentation. Using a visual analog scale, we examined subjective symptoms and discomfort related to sensory alteration within the area of the NSDs in these patients. NSDs were clinically investigated using a two-point discrimination test with blunt-tipped calipers. In addition, neurometry was used for evaluation of trigeminal nerve injury. We tested three treatment modalities for NSDs: follow-up observation (no treatment), medication, and stellate ganglion block (SGB). A week after surgery, 26 patients (25.0%) experienced NSDs. Five patients received no treatment, 10 patients received medication, and 11 patients received SGB. Three months after surgery, patients in the medication and SGB group achieved complete recovery. Current perception threshold values recovered to near-baseline values at 3 months: recovery was much earlier in this group than in the other two groups. SGB can accelerate recovery from NSDs. Our results justify SGB as a reasonable treatment modality for NSDs occurring after the harvesting of retromolar bone grafts. Wiley Periodicals, Inc.

  11. Tbx1 and Jag1 act in concert to modulate the fate of neurosensory cells of the mouse otic vesicle

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    Stephania Macchiarulo

    2017-10-01

    Full Text Available The domain within the otic vesicle (OV known as the neurosensory domain (NSD, contains cells that will give rise to the hair and support cells of the otic sensory organs, as well as the neurons that form the cochleovestibular ganglion (CVG. The molecular dynamics that occur at the NSD boundary relative to adjacent OV cells is not well defined. The Tbx1 transcription factor gene expression pattern is complementary to the NSD, and inactivation results in expansion of the NSD and expression of the Notch ligand, Jag1 mapping, in part of the NSD. To shed light on the role of Jag1 in NSD development, as well as to test whether Tbx1 and Jag1 might genetically interact to regulate this process, we inactivated Jag1 within the Tbx1 expression domain using a knock-in Tbx1Cre allele. We observed an enlarged neurogenic domain marked by a synergistic increase in expression of NeuroD and other proneural transcription factor genes in double Tbx1 and Jag1 conditional loss-of-function embryos. We noted that neuroblasts preferentially expanded across the medial-lateral axis and that an increase in cell proliferation could not account for this expansion, suggesting that there was a change in cell fate. We also found that inactivation of Jag1 with Tbx1Cre resulted in failed development of the cristae and semicircular canals, as well as notably fewer hair cells in the ventral epithelium of the inner ear rudiment when inactivated on a Tbx1 null background, compared to Tbx1Cre/− mutant embryos. We propose that loss of expression of Tbx1 and Jag1 within the Tbx1 expression domain tips the balance of cell fates in the NSD, resulting in an overproduction of neuroblasts at the expense of non-neural cells within the OV.

  12. Synchrotron microtomography of a Nothosaurus marchicus skull informs on nothosaurian physiology and neurosensory adaptations in early Sauropterygia.

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    Dennis F A E Voeten

    brain shape and accessory organs were achieved through heterochronic development of the cranium, particularly the braincase. In summary, the cranium of Nothosaurus marchicus reflects important physiological and neurosensory adaptations that enabled the group's explosive invasion of shallow marine habitats in the late Early Triassic.

  13. Non-invasive neurosensory testing used to diagnose and confirm successful surgical management of lower extremity deep distal posterior compartment syndrome

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    Guyton Gregory P

    2009-05-01

    Full Text Available Abstract Background Chronic exertional compartment syndrome (CECS is characterized by elevated pressures within a closed space of an extremity muscular compartment, causing pain and/or disability by impairing the neuromuscular function of the involved compartment. The diagnosis of CECS is primarily made on careful history and physical exam. The gold standard test to confirm the diagnosis of CECS is invasive intra-compartmental pressure measurements. Sensory nerve function is often diminished during symptomatic periods of CECS. Sensory nerve function can be documented with the use of non-painful, non-invasive neurosensory testing. Methods Non-painful neurosensory testing of the myelinated large sensory nerve fibers of the lower extremity were obtained with the Pressure Specified Sensory Device™ in a 25 year old male with history and invasive compartment pressures consistent with CECS both before and after running on a tread mill. After the patient's first operation to release the deep distal posterior compartment, the patient failed to improve. Repeat sensory testing revealed continued change in his function with exercise. He was returned to the operating room where a repeat procedure revealed that the deep posterior compartment was not completely released due to an unusual anatomic variant, and therefore complete release was accomplished. Results The patient's symptoms numbness in the plantar foot and pain in the distal calf improved after this procedure and his repeat sensory testing performed before and after running on the treadmill documented this improvement. Conclusion This case report illustrates the principal that non-invasive neurosensory testing can detect reversible changes in sensory nerve function after a provocative test and may be a helpful non-invasive technique to managing difficult cases of persistent lower extremity symptoms after failed decompressive fasciotomies for CECS. It can easily be performed before and after

  14. Análisis Molecular de las Mutaciones 2299delG y C759F en Individuos Colombianos con Retinitis Pigmentosa e Hipoacusia Neurosensorial

    OpenAIRE

    López, Greizy; Gelvez, Nancy Yaneth; Urrego, Luisa Fernanda; Florez, Silvia; Medina, David; Rodríguez, Vicente; Tamayo, Marta Lucía

    2014-01-01

    Objetivo: Determinar la presencia de las mutaciones 2299delG y C759F en 37 individuos colombianos no relacionados con asociación de RP e hipoacusia neurosensorial. Materiales y métodos: análisis de secuencia directa del exón 13 del gen USH2A en todos los individuos seleccionados para el estudio. Resultados: la mutación 2299delG fue observada únicamente en individuos con Síndrome de Usher tipo II, mientras que la mutación C759F, no fue observada en ninguno de los individuos del estudio. Obj...

  15. Low-level laser therapy for treatment of neurosensory disorders after orthognathic surgery: A systematic review of randomized clinical trials.

    Science.gov (United States)

    Bittencourt, M-A-V; Paranhos, L-R; Martins-Filho, P-R-S

    2017-11-01

    Low-level laser has been widely used in Dentistry and many studies have focused on its application in oral surgeries. This study was conducted with the aim of searching for scientific evidence concerning the effectiveness of laser to reduce pain or paresthesia related to orthognathic surgery. An electronic search was performed in PubMed, Scopus, Science Direct, LILACS, SciELO, CENTRAL, Google Scholar, OpenGrey, and ClinicalTrials.gov, up to November 2016, with no restrictions on language or year of publication. Additionally, a hand search of the reference list of the selected studies was carried out. The PICOS strategy was used to define the eligibility criteria and only randomized clinical trials were selected. Out of 1,257 identified citations, three papers fulfilled the criteria and were included in the systematic review. The risk of bias was assessed according to the Cochrane Guidelines for Clinical Trials and results were exposed based on a descriptive analysis. One study showed that laser therapy was effective to reduce postoperative pain 24 hours (P=0.007) and 72 hours (P=0.007) after surgery. Other study revealed the positive effect of laser to improve neurosensory recovery 60 days after surgery, evaluated also by the two-point discrimination (P=0.005) and sensory (P=0.008) tests. The third study reported an improvement for general sensibility of 68.75% for laser group, compared with 21.43% for placebo (P=0.0095), six months after surgery. Individual studies suggested a positive effect of low-level laser therapy on reduction of postoperative pain and acceleration of improvement of paresthesia related to orthognathic surgery. However, due to the insufficient number and heterogeneity of studies, a meta-analysis evaluating the outcomes of interest was not performed, and a pragmatic recommendation about the use of laser therapy is not possible. This systematic review was conducted according to the statements of PRISMA and was registered at PROSPERO under the

  16. Stellate Ganglion Block, Compared With Xenon Light Irradiation, Is a More Effective Treatment of Neurosensory Deficits Resulting From Orthognathic Surgery, as Measured by Current Perception Threshold.

    Science.gov (United States)

    Nogami, Kentaro; Taniguchi, Shogo

    2015-07-01

    The aim of this study was to evaluate the relative effectiveness of stellate ganglion blockade (SGB) versus xenon light irradiation (XLI) for the treatment of neurosensory deficits resulting from orthognathic surgery as determined by a comparison of prospective measurements of electrical current perception thresholds (CPTs) and ranged CPTs (R-CPTs). CPT and R-CPT in the mental foramen area were measured during electrical stimulation at 98 different sites on the body in patients who had undergone orthognathic surgery. After surgery, patients were assigned to the SGB group or the XLI group. CPT and R-CPT of the 2 groups were measured at stimulation frequencies of 2,000, 250, and 5 Hz before surgery, 1 week after surgery, and after 10 treatment sessions. Furthermore, the influence of surgical factors, such as genioplasty and a surgically exposed inferior alveolar nerve (IAN), was examined in the 2 groups. Patients' CPT and R-CPT values indicated a considerable amount of sensory disturbance in most cases after surgery. The change in magnitude of all CPT and R-CPT values for the SGB group decreased considerably compared with that for the XLI group after treatment. There was no correlation between CPT or R-CPT values and surgical factors (eg, genioplasty and exposure of the IAN). SGB of the IAN could be an effective method for treating neurosensory deficits after orthognathic surgery on the IAN. Copyright © 2015 American Association of Oral and Maxillofacial Surgeons. Published by Elsevier Inc. All rights reserved.

  17. Partial lateralization of the nasopalatine nerve at the incisive foramen for ridge augmentation in the anterior maxilla prior to placement of dental implants: a retrospective case series evaluating self-reported data and neurosensory testing.

    Science.gov (United States)

    Urban, Istvan; Jovanovic, Sascha A; Buser, Daniel; Bornstein, Michael M

    2015-01-01

    The objective of this study was to assess implant therapy after a staged guided bone regeneration procedure in the anterior maxilla by lateralization of the nasopalatine nerve and vessel bundle. Neurosensory function following augmentative procedures and implant placement, assessed using a standardized questionnaire and clinical examination, were the primary outcome variables measured. This retrospective study included patients with a bone defect in the anterior maxilla in need of horizontal and/or vertical ridge augmentation prior to dental implant placement. The surgical sites were allowed to heal for at least 6 months before placement of dental implants. All patients received fixed implant-supported restorations and entered into a tightly scheduled maintenance program. In addition to the maintenance program, patients were recalled for a clinical examination and to fill out a questionnaire to assess any changes in the neurosensory function of the nasopalatine nerve at least 6 months after function. Twenty patients were included in the study from February 2001 to December 2010. They received a total of 51 implants after augmentation of the alveolar crest and lateralization of the nasopalatine nerve. The follow-up examination for questionnaire and neurosensory assessment was scheduled after a mean period of 4.18 years of function. None of the patients examined reported any pain, they did not have less or an altered sensation, and they did not experience a "foreign body" feeling in the area of surgery. Overall, 6 patients out of 20 (30%) showed palatal sensibility alterations of the soft tissues in the region of the maxillary canines and incisors resulting in a risk for a neurosensory change of 0.45 mucosal teeth regions per patient after ridge augmentation with lateralization of the nasopalatine nerve. Regeneration of bone defects in the anterior maxilla by horizontal and/or vertical ridge augmentation and lateralization of the nasopalatine nerve prior to dental

  18. Propuesta didáctica para desarrollar psicomotricidad en niñas y niños con IMOC Mediante estimulación neurosensorial con música

    OpenAIRE

    Henao Fernández, Gabriel

    2010-01-01

    Esta propuesta didáctica para la educación musical de población con insuficiencia motora de origen cerebral, está diseñada para el desarrollo de psicomotricidad, a partir de actividades de estimulación neurosensorial con música e instrumentos musicales, argumentada desde el punto de vista de la neurobiología. This didáctic proposal for the musical education of motoric insufficiency from cerebral order population is designed to develop psychomotor activity, departuring from activities ...

  19. Australasian randomised trial to evaluate the role of maternal intramuscular dexamethasone versus betamethasone prior to preterm birth to increase survival free of childhood neurosensory disability (A*STEROID): study protocol

    Science.gov (United States)

    2013-01-01

    Background Both dexamethasone and betamethasone, given to women at risk of preterm birth, substantially improve short-term neonatal health, increase the chance of the baby being discharged home alive, and reduce childhood neurosensory disability, remaining safe into adulthood. However, it is unclear which corticosteroid is of greater benefit to mother and child. This study aims to determine whether giving dexamethasone to women at risk of preterm birth at less than 34 weeks’ gestation increases the chance of their children surviving free of neurosensory disability at two years’ corrected age, compared with betamethasone. Methods/Design Design randomised, multicentre, placebo controlled trial. Inclusion criteria women at risk of preterm birth at less than 34 weeks’ gestation with a singleton or twin pregnancy and no contraindications to the use of antenatal corticosteroids and who give informed consent. Trial entry & randomisation at telephone randomisation eligible women will be randomly allocated to either the dexamethasone group or the betamethasone group, allocated a study number and corresponding treatment pack. Study groups women in the dexamethasone group will be administered two syringes of 12 mg dexamethasone (dexamethasone sodium phosphate) and women in the betamethasone group will be administered two syringes of 11.4 mg betamethasone (Celestone Chronodose). Both study groups consist of intramuscular treatments 24 hours apart. Primary study outcome death or any neurosensory disability measured in children at two years’ corrected age. Sample size a sample size of 1449 children is required to detect either a decrease in death or any neurosensory disability from 27.0% to 20.1% with dexamethasone compared with betamethasone, or an increase from 27.0% to 34.5% (two-sided alpha 0.05, 80% power, 5% loss to follow up, design effect 1.2). Discussion This study will provide high-level evidence of direct relevance for clinical practice. If one drug clearly

  20. Estudios citogenéticos y moleculares en una población sorda institucionalizada con síndrome de Waardenburg en Colombia

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    N. Y. Gelvez

    2001-07-01

    Full Text Available El Síndrome de Waardenburg (WS es un desorden autosómico dominante caracterizado por sordera neurosensorial y anormalidades pigmentarias en la piel y faneras. Es clínica y genéticamente heterogéneo y ha sido dividido en 4 subtipos. Según la presencia o ausencia de distopia cantorum (desplazamiento lateral del canto interno de los ojos, se subdividen en WS 1 (gen PAX 3 y WS 2 (gen MITF, respectivamente.

  1. Unusual magnetic resonance findings in two children with sudden sensorineural hearing loss Achados incomuns nas ressonâncias magnéticas de duas crianças com perda auditiva neuro-sensorial súbita

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    Emerson L. Gasparetto

    2005-12-01

    Full Text Available OBJECTIVE: To describe the MRI findings of two pediatric patients with sudden sensorineural hearing loss (SSHL. CASE REPORTS: Two male patients (two-year and three-months-old, and one year and four-months-old presented with sudden dumbness. Physical and neurological examinations were unremarkable besides bilateral hypoacusia. All the laboratory investigation was negative, and brain stem auditory evoked potentials showed deep bilateral deafness in both cases. MRI studies revealed normal inner ears and multifocal white matter areas of slight low signal on T1-weighted images and high signal on FLAIR images. The follow-up MRI studies and neurological examinations did not demonstrate alterations in the previous findings. CONCLUSION: Pediatric patients with SSHL may present cerebral white matter signal abnormalities at the MRI as the only finding. Further studies with larger casuistics need to be conducted to elucidate these findings.OBJETIVO: Descrever os achados de ressonância magnética (RM em dois pacientes pediátricos com perda auditiva neuro-sensorial súbita (PANS. RELATO DOS CASOS: Dois pacientes masculinos (dois anos e três meses e um ano e quarto meses de idade apresentaram-se com surdez súbita. Os exames físico e neurológico foram normais, à exceção da hipoacusia. Toda a investigação laboratorial foi normal, e os potenciais auditivos evocados do tronco cerebral demonstraram surdez profunda bilateral. Os exames de RM evidenciaram estruturas normais dos ouvidos internos e áreas multifocais de discreto hipossinal em T1 e hipersinal em FLAIR na substância branca dos hemisférios cerebrais. As RMs e os exames neurológicos de controle não demonstraram alterações nos achados prévios. CONCLUSÃO: Pacientes pediátricos com PANS podem apresentar à RM alterações de sinal na substância branca dos hemisférios cerebrais como único achado. Estudos futuros com casuísticas maiores deverão ser conduzidos para a elucidação destes

  2. Neurosensory changes of palatal mucousa following Le Fort I osteotomy

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    Bijan Movahedian Attar

    2009-09-01

    Full Text Available

    • BACKGROUND: This study evaluated the sensation of palatal ucosa before and after Le Fort I osteotomy and compared it based on whether greater palatine nerve has been dissected or not.
    • METHODS: Sixteen patients were studied within one week before  urgery and then one week, 6 weeks, 3 months and 6 months after surgery. Four tests including sharp-blunt discrimination, cold perception, pin prick sensation and electrical stimulation were performed.
    • RESULTS: Mean values of electrical stimulation were significantly higher 6 months after surgery (p < 0.05, on the other hand mean values of pin-prick sensation were significantly lower (p < 0.05. All patients regardless of the condition of greater palatine nerve were responsive to cold perception and sharp-blunt discrimination 6 months after surgery.
    • CONCLUSIONS: Following Le Fort I osteotomy, palatal  esponsiveness to electrical stimulation decreases and mechanical hyper sensitization occurs. Dissection of greater palatine nerve was shown to have no effect on the results.
    • KEYWORDS: Lefort I Osteotomy, Palatal Mocousa, Nerve Recovery.

  3. Neurosensory Symptom Complexes after Acute Mild Traumatic Brain Injury.

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    Michael E Hoffer

    Full Text Available Mild Traumatic Brain Injury (mTBI is a prominent public health issue. To date, subjective symptom complaints primarily dictate diagnostic and treatment approaches. As such, the description and qualification of these symptoms in the mTBI patient population is of great value. This manuscript describes the symptoms of mTBI patients as compared to controls in a larger study designed to examine the use of vestibular testing to diagnose mTBI. Five symptom clusters were identified: Post-Traumatic Headache/Migraine, Nausea, Emotional/Affective, Fatigue/Malaise, and Dizziness/Mild Cognitive Impairment. Our analysis indicates that individuals with mTBI have headache, dizziness, and cognitive dysfunction far out of proportion to those without mTBI. In addition, sleep disorders and emotional issues were significantly more common amongst mTBI patients than non-injured individuals. A simple set of questions inquiring about dizziness, headache, and cognitive issues may provide diagnostic accuracy. The consideration of other symptoms may be critical for providing prognostic value and treatment for best short-term outcomes or prevention of long-term complications.

  4. [Research progress of conscious pain and neurosensory abnormalities in dry eye disease].

    Science.gov (United States)

    Lin, X; Liu, Z L; Wu, J L; Liu, Z G

    2018-02-11

    Dry eye is one of the most common ocular problems in ophthalmology clinic. With the change of social environment and people's life style, the prevalence of dry eye disease is increasing. Currently, the diagnosis criteria for dry eye is controversial, diagnosis of dry eye mainly rely on the comprehensive assessment of symptoms and the presence of associated ocular surface signs. However, previous studies have shown a poor correlation between dry eye symptoms and objective clinical signs in patients. Recent studies have found that neuropathic pain plays an important role in the occurrence of discordance between symptoms and signs in dry eye disease. The purpose of this paper is to present the conception of pain, the distribution and function of sensory nerves in ocular surface, the prevalence and mechanism of neuropathic pain and analgesic treatment in dry eye disease. (Chin J Ophthalmol, 2018, 54: 144-148) .

  5. Electrophysiological properties of neurosensory progenitors derived from human embryonic stem cells

    Directory of Open Access Journals (Sweden)

    Karina Needham

    2014-01-01

    Full Text Available In severe cases of sensorineural hearing loss where the numbers of auditory neurons are significantly depleted, stem cell-derived neurons may provide a potential source of replacement cells. The success of such a therapy relies upon producing a population of functional neurons from stem cells, to enable precise encoding of sound information to the brainstem. Using our established differentiation assay to produce sensory neurons from human stem cells, patch-clamp recordings indicated that all neurons examined generated action potentials and displayed both transient sodium and sustained potassium currents. Stem cell-derived neurons reliably entrained to stimuli up to 20 pulses per second (pps, with 50% entrainment at 50 pps. A comparison with cultured primary auditory neurons indicated similar firing precision during low-frequency stimuli, but significant differences after 50 pps due to differences in action potential latency and width. The firing properties of stem cell-derived neurons were also considered relative to time in culture (31–56 days and revealed no change in resting membrane potential, threshold or firing latency over time. Thus, while stem cell-derived neurons did not entrain to high frequency stimulation as effectively as mammalian auditory neurons, their electrical phenotype was stable in culture and consistent with that reported for embryonic auditory neurons.

  6. Return-to-Duty Toolkit: Assessments and Tasks for Determining Military Functional Performance Following Neurosensory Injury

    Science.gov (United States)

    2017-09-29

    needed: • Clipboard • Pencils • Stopwatch • Blue painters tape • Administration manual and score sheet • Opal or NexGen inertial sensor...coordinate lists  Pencil  Stopwatch  Opal or NexGen inertial sensor, MobilityLab ( Opal ) software, and wireless data collection port with computer, Opal ...hand held controller. www.apdm.com/mobility The Opal system, which is used to quantify participant position changes, velocity and acceleration

  7. Incomplete and delayed Sox2 deletion defines residual ear neurosensory development and maintenance

    Czech Academy of Sciences Publication Activity Database

    Dvořáková, Martina; Jahan, I.; Mácová, Iva; Chumak, Tetyana; Bohuslavová, Romana; Syka, Josef; Fritzsch, B.; Pavlínková, Gabriela

    2016-01-01

    Roč. 6, Dec 5 (2016), č. článku 38253. ISSN 2045-2322 R&D Projects: GA ČR(CZ) GA13-07996S; GA MŠk(CZ) ED1.1.00/02.0109 Institutional research plan: CEZ:AV0Z50520701 Institutional support: RVO:86652036 ; RVO:68378041 Keywords : inner ear * neurons * hair cells Subject RIV: EB - Genetics ; Molecular Biology; FH - Neurology (UEM-P) Impact factor: 4.259, year: 2016

  8. Applied Neuroanatomy Elective to Reinforce and Promote Engagement with Neurosensory Pathways Using Interactive and Artistic Activities

    Science.gov (United States)

    Dao, Vinh; Yeh, Pon-Hsiu; Vogel, Kristine S.; Moore, Charleen M.

    2015-01-01

    One in six Americans is currently affected by neurologic disease. As the United States population ages, the number of neurologic complaints is expected to increase. Thus, there is a pressing need for more neurologists as well as more neurology training in other specialties. Often interest in neurology begins during medical school, so improving…

  9. Neurosensory changes in a human model of endothelin-1 induced pain: a behavioral study

    NARCIS (Netherlands)

    Hans, Guy; Deseure, Kristof; Robert, Dominique; de Hert, Stefan

    2007-01-01

    Although pain is a frequent feature in patients with cancer, its etiology is still poorly understood. In recent years, endothelin-1 (ET-1) has become a major target molecule in the etiology of cancer pain. In this randomised, double-blind study the effects of intradermal injection of ET-1 on

  10. Learning disabilities among extremely preterm children without neurosensory impairment: Comorbidity, neuropsychological profiles and scholastic outcomes.

    Science.gov (United States)

    Johnson, Samantha; Strauss, Victoria; Gilmore, Camilla; Jaekel, Julia; Marlow, Neil; Wolke, Dieter

    2016-12-01

    Children born extremely preterm are at high risk for intellectual disability, learning disabilities, executive dysfunction and special educational needs, but little is understood about the comorbidity of intellectual and learning disabilities in this population. This study explored comorbidity in intellectual disability (ID) and learning disabilities (LD) in children born extremely preterm (EP; disabilities. LD were associated with a 3 times increased risk for SEN. However, EP children with ID alone had poorer neuropsychological abilities and curriculum-based attainment than children with no disabilities, yet there was no increase in SEN provision among this group. EP children are at high risk for comorbid intellectual and learning disabilities. Education professionals should be aware of the complex nature of EP children's difficulties and the need for multi-domain assessments to guide intervention. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  11. Síndrome de Alport autosómico recesivo.: A propósito de un caso

    Directory of Open Access Journals (Sweden)

    Carlos Enrique Tapia Zerpa

    2008-01-01

    Full Text Available Mujer, de 14 años de edad procedente de San Martín (Perú, ingresó al hospital con historia de tres meses de disnea, palidez e hiporexia, y disminución del volumen urinario en el último mes. Dos semanas antes de su ingreso presentó cefalea global, diplopía y náuseas y vómitos. Acudió al hospital de su localidad donde le indicaron tratamiento con ampicilina y gentamicina, por sospecha de pielonefritis aguda; al no observar mejoría fue trasladada a nuestro hospital. No había antecedentes personales ni familiares de importancia, salvo que los padres eran consanguíneos. Al examen se encontró palidez, opacidades bilaterales en el cristalino, hipoacusia bilateral y flapping. Los exámenes de laboratorio mostraron anemia y retención nitrogenada (urea 233 mg/dL y creatinina 15 mg/dL. El examen de orina mostró alteraciones tubulares, proteinuria y hematuria. La ecografía renal mostró riñones pequeños. El examen ocular reveló catarata nuclear polar posterior en ojo derecho y catarata total en el ojo izquierdo y la audiometría, sordera neurosensorial bilateral. (Rev Med Hered 2008;19:25-28.

  12. Brain injury in very preterm children and neurosensory and cognitive disabilities during childhood: the EPIPAGE cohort study.

    Directory of Open Access Journals (Sweden)

    Stéphane Marret

    Full Text Available OBJECTIVE: To investigate the association of motor and cognitive/learning deficiencies and overall disabilities in very preterm (VPT children and their relations to gestational age (GA and brain lesions. DESIGN SETTING AND PARTICIPANTS: EPIPAGE is a longitudinal population-based cohort study of children born before 33 weeks' gestation (WG in 9 French regions in 1997-1998. Cumulating data from all follow up stages, neurodevelopmental outcomes were available for 90% of the 2480 VPT survivors at 8 years. Main outcomes were association of motor and cognitive deficiencies and existence of at least one deficiency (motor, cognitive, behavioral/psychiatric, epileptic, visual, and/or hearing deficiencies in three GA groups (24-26, 27-28, and 29-32WG and four groups of brain lesions (none, minor, moderate, or severe. RESULTS: VPT had high rates of motor (14% and cognitive (31% deficiencies. Only 6% had an isolated motor deficiency, 23% an isolated cognitive one and 8% both types. This rate reached 20% among extremely preterm. Psychiatric disorders and epilepsy were observed in 6% and 2% of children, respectively. The risks of at least one severe or moderate deficiency were 11 and 29%. These risks increased as GA decreased; only 36% of children born extremely preterm had no reported deficiency. Among children with major white matter injury (WMI, deficiency rates reached 71% at 24-26WG, 88% at 27-28WG, and 80% at 29-32WG; more than 40% had associated motor and cognitive deficiencies. By contrast, isolated cognitive deficiency was the most frequent problem among children without major lesions. CONCLUSIONS: In VPT, the lower the GA, the higher the neurodisability rate. Cerebral palsy is common. Impaired cognitive development is more frequent. Its occurrence in case without WMI or early motor disorders makes long-term follow up necessary. The strong association between motor impairments, when they exist, and later cognitive dysfunction supports the hypothesis of a common origin of these difficulties.

  13. La enseñanza en el campo de la sordera. Reflexiones desde la teoría del acontecimiento didáctico/The teaching in the deafness field. Some reflections coming from the theory of didatic event reflections

    Directory of Open Access Journals (Sweden)

    Luis E. Behares

    2006-01-01

    Full Text Available En este trabajo reflexiono acerca de las controversias de los fracasos didácticos en el área de la educación de los sordos. Los enfoques en esta área han oscilado, desde el siglo XVIII, entre dos polos: por una parte pretendían constituirse en un ámbito exclusivo de transmisión de saber y, por otra, en una didáctica reconstructiva de lengua. Al primer polo tendieron, sin lograrlo plenamente, el manualismo del siglo XVIII y la educación bilingüe de fines del siglo XX; al segundo ha tendido, también sin lograrlo, el oralismo que se extendió por el siglo XX. Se han estudiado en detalle esas tendencias. En cuanto a los fracasos o imposibilidades de ambas se ha escrito muy poco. En el marco de referencia teórico de la Línea de estudio de lo didáctico como acontecimiento discursivo e intersubjetividad (EDADI, que llevamos adelante en la Universidad de la República (Montevideo, Uruguay, indagamos algunas de estas cuestiones didácticas en el área de la educación de los sordos. In this paper I discuss certain controversial topics regarding didactic failures in the area of deaf education. The approaches in this area have alternated, since the XVIIIth century, between two tendencies: knowledge transmission device and language reconstruction didactics. The XVIIIth century Manualism and the late XXth century Bilingual Education of the Deaf represent the first approach which has not fulfilled expectations. The second approach is found in the equally unsuccessful Oralism, widely used in the XXth century. These tendencies have already been analysed in detail, but little has been written about their shortcomings. In the framework of the Program for the study of didactics as a discursive event and intersubjectivity (EDADI, developed at the Universidad de la República (Montevideo, Uruguay, we investigate some didactic issues underlying the controversies and failures in deaf education.

  14. Terapia celular dirigida contra la sordera: estudio de la capacidad de transdiferenciación de células madre mesenquimales humanas y de fibroblastos hacia células sensoriales del oído interno

    OpenAIRE

    Feijoo-Redondo, Ana

    2014-01-01

    La pérdida de audición es la discapacidad sensorial más común en el ser humano. En los mamíferos, las células ciliadas (CC) del oído interno y las neuronas sensoriales auditivas (NSA) no se regeneran espontáneamente y su degeneración puede provocar una pérdida de audición permanente. En la actualidad se analizan diferentes posibilidades para evitar la pérdida de las células sensoriales del oído o conseguir una regeneración funcional del tejido mediante, por ejemplo, la terapia celular. Para l...

  15. Behavioral and neurosensory responses of the boll weevil,Anthonomus grandis Boh. (Coleoptera: Curculionidae), to fluorinated analogs of aldehyde components of its pheromone.

    Science.gov (United States)

    Dickens, J C; Prestwich, G D; Sun, W C

    1991-06-01

    Competitive field tests with α-fluorinated analogs of compounds III and IV (III-α-F and IV-α-F, respectively) of the boll weevil,Anthonomus grandis Boh., aggregation pheromone showed these compounds, when combined with the other pheromone components [(±)-I and II], to be as attractive as grandlure [(+)-I, II, and III+IV]. Dose-response curves constructed from electroantennograms of male boll weevils to serial stimulus loads of III, IV, III-α-F, IV-α-F, and the corresponding acyl fluorinated analogs (III-acyl-F and IV-acyl-F) showed the α-fiuorinated analogs to be as active as the pheromone components (threshold=0.1 μg), while the acyl fluorinated analogs had a 10-100 x higher threshold (=1-10 μg). Single-neuron recordings showed that IV neurons and II neurons (Dickens, 1990) responded to IV-α-F and III-α-F, respectively, while IV-acyl-F and III-acyl-F were inactive. Since a previous study showed compounds I, II, and IV to be essential for behavioral responses in the field, it seems likely that the activity of the α-fluorinated analogs observed here is due to the stimulation of IV neurons by IV-α-F as indicated in single neuron recordings.

  16. An?lisis Molecular de las Mutaciones 2299delG y C759F en Individuos Colombianos con Retinitis Pigmentosa e Hipoacusia Neurosensorial

    OpenAIRE

    L?pez, Greizy; Gelvez, Nancy Yaneth; Urrego, Luisa Fernanda; Florez, Silvia; Medina, David; Rodr?guez, Vicente; Tamayo, Marta Luc?a

    2014-01-01

    Objective: To determine the presence of 2299delG and C759F mutations in 37 non-related subjects from Colom?bia suffering from RP and sensorineural deafness. Materials and methods:Exon 13 of USH2A gene was directly sequenced in all subjects selected for the study. Results: In this work, the 2299delG mutation was only observed in subjects suffering from Usher syndrome type II while the C759F mutation was not detected in any subject.

  17. Evaluación auditiva neurosensorial en un grupo de prematuros del programa madre conguro Sensorineural auditory evaluation in a group of preterm neonates from the "Kangaroo mother" program

    Directory of Open Access Journals (Sweden)

    Gabriel Hernández

    1997-01-01

    Full Text Available Entre agosto de 1989 y diciembre de 1991 se buscó asociación entre algunos factores de riesgo comunes a los prematuros con peso menor de 1.500 g al nacer y el hecho de presentar disminución de la agudeza auditiva, medida con los potenciales evocados del tallo cerebral a los 4 meses y luego entre los 8 y los 14 meses. Los factores de riesgo tenidos en cuenta en 133 prematuros del ";Programa madre canguro"; del Instituto de los Seguros Sociales, en Medellín, fueron: Peso inferior a 1.500 g, hiperbilirrubinemia superior a 10 mg/ml, sufrimiento fetal, membranas hialinas, uso de aminoglicósidos, hipoglucemia, hemorragia del tercer trimestre e hipertensión arterial materna. Se halló pérdida de la agudeza auditiva en la evaluación inicial en 54 nifíos (40.6% mientras en la final sólo la presentaban 10 (7.5%; no pudo detectarse asociación entre los factores de riesgo y la disminución de la agudeza auditiva en la evaluación inicial ni en la final. La mejoría de resultados de agudeza auditiva entre las pruebas iniciales y las finales puede explicarse, entre otras razones, por la maduración cerebral del prematuro. Se debe investigar más la razón de los déficits finales y, ojalá, establecer programas de seguimiento con pruebas auditivas en este grupo de niños en riesgo. A study was carried out to investigate the association between risk factors commonly found in preterm neonates with very low birth-weight (Iess than 1.500 g and decreased auditory acuteness; the latter was measured according to brain stem evoked potentiaJs (BERA test In 133 preterm neonates belonging to the "Kangaroo mother program", in 'Medellín,Colombla. The following risk factors we~ evaluated: Hyperbilirrubinemia, hyaline membrane, birth weight lower than 1.500g, fetal distress, hypoglycemia, use of aminoglycosldes, thlrd trimester hemorrhage, and maternal high blood presssure. Abnormal results in BERA test were found in 54 cases (40.6% at 4 months and in only 10 (7.5% in the final evaluation performed between 8 and 14 months of age. No association was found between risk factors and decreased auditory acuteness; the shift from abnormal to normal auditory acuteness can be explained by brain maturation factors In the preterm infant. Causes for final deficits remain to be investigated; follow-up programs including auditory tests in this group of children at risk should be established.

  18. Epidemiología de la pérdida auditiva neurosensorial pre-lingual en un centro de atención a niños de Bogotá, Colombia entre 1997 y 2008

    OpenAIRE

    Claudia Talero-Gutiérrez; Liliana Romero; Irma Carvajalino; Milciades Ibáñez

    2011-01-01

    Introduction: Hearing loss is a frequent problem in childhood with an incidence of about one case per 1000 births. Control of deafness should be aimed at prevention and early diagnosis in efforts to provide appropriate treatment and stimulate adequate communication in children affected. The objective of this study was to determine the prevalence of different etiologies among deaf children with a diagnosis of prelingual sensorineural hearing loss referred to the Fundación CINDA in Bogotá, Colo...

  19. A YAC contig and an EST map in the pericentromeric region of chromosome 13 surrounding the loci for neurosensory nonsyndromic deafness (DFNB1 and DFNA3) and Limb-Girdle muscular dystrophy type 2C (LGMD2C)

    Energy Technology Data Exchange (ETDEWEB)

    Guilford, P.; Crozet, F.; Blanchard, S. [Institut Pasteur, Paris (France)] [and others

    1995-09-01

    Two forms of inherited childhood nonsyndromic deafness (DFNB1 and DFNA3) and a Duchenne-like form of progressive muscular dystrophy (LGMD2C) have been mapped to the pericentromeric region of chromosome 13. To clone the genes responsible for these diseases we constructed a yeast artificial chromosome (YAC) contig spanning an 8-cM region between the polymorphic markers D13S221. The contig comprises 24 sequence-tagged sites, among which 15 were newly obtained. This contig allowed us to order the polymorphic markers centromere- D13S175-D13S141-D13S143-D13S115-AFM128yc1-D13S292-D13S283-AFM323vh5-D13S221-telomere. Eight expressed sequence tags, previously assigned to 13q11-q12 (D13S182E, D13S183E, D13S502E, D13S504E, D13S505E, D13S837E, TUBA2, ATP1AL1), were localized on the YAC contig. YAC screening of a cDNA library derived from mouse cochlea allowed us to identify an {alpha}-tubulin gene (TUBA2) that was subsequently precisely mapped within the candidate region. 36 refs., 2 figs., 2 tabs.

  20. Factores nutricionales que modulan la progresión de la pérdida auditiva asociada al envejecimiento en el ratón: ácido fólico y ácidos grasos omega-3

    OpenAIRE

    Martínez-Vega, Raquel

    2015-01-01

    La pérdida auditiva puede deberse a factores ambientales, genéticos o a una combinación de ambos. En contraste con la sordera congénita, no se conocen apenas los factores genéticos que contribuyen a la sordera por envejecimiento o presbiacusia, derivándose la mayor parte de la información disponible de los estudios realizados en modelos animales. El descenso en la funcionalidad del organismo como consecuencia del envejecimiento está asociado con la aparición de enfermedades crónicas, que ...

  1. Mouse muscle LC-MSMS upon weightlessness

    Data.gov (United States)

    National Aeronautics and Space Administration — Upon weightlessness and microgravity deleterious effects on the neurosensory and neurovestibular systems haematological changes and deconditioning of musculoskeletal...

  2. Evaluación de la hiperbilirrubinemia como factor de riesgo de hipoacusia neurosensorial en el programa de screening universal de hipoacusia infantil del Complejo Hospitalario Universitario Universitario Insular Materno Infantil de Gran Canaria ente los años 2007 al 2011

    OpenAIRE

    Corujo Santana, Cándido

    2014-01-01

    Programa de doctorado: Avances en Traumatología, Medicina del Deporte y Cuidados de Heridas. [ES] La bilirrubina es un pigmento altamente tóxico para los sitemas biológicos, especialmente para el sistema nervioso. El Joint Committee on Infant Heraing, en 1994, establece la lista de patologías en las que la incidencia de hipoacusia es mayor que las de la población general. En España, la CODEPEH ha confeccionado una lista de indicadores de riesgo (actualizada en 2010) que, cuando estén prese...

  3. Avaliação do vocabulário de crianças surdas inseridas no contexto educacional da pré-escola do Instituto Nacional de Educação de Surdos

    Directory of Open Access Journals (Sweden)

    John Van Borsel

    2017-01-01

    Full Text Available A capacidade de se comunicar usando a linguagem verbal é um dos aspectos que distinguem os seres humanos dos demais seres viventes. A presente pesquisa tem como objetivo avaliar o vocabulário expressivo de alunos surdos, matriculados na educação infantil, usuários da Língua Brasileira de Sinais (Libras, analisando em quais campos conceituais os educandos apresentam maior domínio de nomeação e identificam os processos por eles utilizados. A pesquisa utilizada para a realização deste trabalho foi um estudo transversal descritivo. A amostra foi composta por 17 alunos, matriculados na pré-escola do Serviço de Educação Infantil, do Instituto Nacional de Educação de Surdos - MEC localizado à Rua das Laranjeiras, 232, no bairro de Laranjeiras, Rio de Janeiro, com diagnóstico de surdez neurossensorial severo- profunda, divididos em dois grupos com idades entre 5 e 9 anos e 11 meses, de ambos os sexos. Como língua de instrução foi usada a Libras, razão pela qual o intérprete permaneceu junto ao pesquisador durante o processo de aplicação do teste. Não participaram da pesquisa alunos matriculados na pré-escola há menos de 1 ano e aqueles que apresentaram outras deficiências associadas à surdez. Foi utilizado o Teste de Linguagem Infantil ABFW - Vocabulário. As respostas foram classificadas em: designação do vocábulo usual (DVU, não designação (ND e processos de substituição (PS, de acordo com a proposta da autora da prova. Os resultados mostram que ambos os grupos pesquisados (de 5 e 6 anos apresentaram desempenho inferior no que se refere a DVU e mais processos de substituição. Já com relação aos processos de ND, não foram observadas diferenças. O baixo desempenho do grupo pesquisado pode ser explicado pelo fato de a maioria das crianças ser oriunda de famílias ouvintes que desconhecem ou pouco usam a Libras como língua de instrução, comprometendo etapas cruciais para que a criança adquira conceitos e

  4. Azelaic Acid Topical Formulations: Differentiation of 15% Gel and 15% Foam.

    Science.gov (United States)

    Del Rosso, James Q

    2017-03-01

    In this article, the author reviews topical formulations of azelaic acid used to treat papulopustular rosacea. Emphasis is placed on differences in vehicle technology and potential clinical impact of the possibility for neurosensory cutaneous tolerability reactions.

  5. Infantile Refsum's disease: biochemical findings suggesting multiple peroxisomal dysfunction

    NARCIS (Netherlands)

    Poll-The, B. T.; Saudubray, J. M.; Ogier, H.; Schutgens, R. B.; Wanders, R. J.; Schrakamp, G.; van den Bosch, H.; Trijbels, J. M.; Poulos, A.; Moser, H. W.

    1986-01-01

    Infantile Refsum's disease was diagnosed in three male patients, presenting with facial dysmorphia, retinitis pigmentosa, neurosensory hearing loss, hepatomegaly, osteopenia and delayed growth and psychomotor development. An elevated plasma phytanic acid concentration and a deficient phytanic acid

  6. Is 2 mm a safe distance from the inferior alveolar canal to avoid ...

    African Journals Online (AJOL)

    2015-10-30

    Oct 30, 2015 ... surgery, endodontic treatment, local anesthetic injection, ... KEYWORDS: Dental implants, inferior alveolar nerve injury, neurosensory complication. Department .... hemorrhage into the canal or contamination of drilling debris ...

  7. Is 2 mm a safe distance from the inferior alveolar canal to avoid ...

    African Journals Online (AJOL)

    . Conclusion: When 2 mm is considered as a safety distance, the distance of the implants to the IAC did not yield any statistical difference regarding postoperative neurosensory complications. Keywords: Dental implants, inferior alveolar nerve ...

  8. El silencio como metáfora. Una aproximación a la Comunidad Sorda y a su sentimiento identitario.

    Directory of Open Access Journals (Sweden)

    Dolors Rodríguez Martín

    2013-06-01

    Full Text Available El colectivo de personas sordas puede ser conceptualizado desde dos perspectivas dicotómicas. Por un lado la perspectiva biomédica, que entenderá la sordera como un déficit, una patología; y por otro la sociocultural, que la entenderá como una particularidad haciendo que se perciba e interprete el mundo a partir del rasgo visual. Es a partir de esta segunda perspectiva desde donde se conceptualiza la Identidad y Comunidad Sorda, siendo la Lengua de signos su rasgo identitario primordial.

  9. Definición de Subtipos del Síndrome de Usher en Población Colombiana

    OpenAIRE

    Greizy López Leal; Nancy Gelvez Moyano; Marta L. Tamayo

    2010-01-01

    Resumen

    Introducción. El Síndrome de Usher (USH), de herencia autosómica recesiva, se caracteriza por sordera congénita sensorial, Retinitis Pigmentosa y disfunción vestibular. Se conocen 3 tipos clínicos y 12 subtipos genéticos. En Colombia no se conocen las frecuencias de los subtipos genéticos ni las mutaciones más frecuentes.

    Objetivo. El objetivo de este trabajo fue definir el subtipo...

  10. Detector de sonidos familiares mediante teléfonos móviles en entornos adversos

    OpenAIRE

    Homobono Rubio, Jorge

    2014-01-01

    Los smartphones o “teléfonos inteligentes” han irrumpido en los últimos años, de manera que han cambiado completamente el uso que se les había dado hasta ahora a los teléfonos móviles. Estos nuevos terminales tienen potentes hardware gestionados por novedosos Sistemas Operativos, como Android, que han permitido la inclusión de aplicaciones capaces de realizar multitud de tareas. Por otra parte, las ayudas técnicas a la sordera han evolucionado mucho desde la llegada de la era digital. Aunq...

  11. HACIA UNA POLÍTICA EDUCATIVA PARA LA ENSEÑANZA Y EL APRENDIZAJE DE LA LENGUA ESCRITA EN SORDOS

    OpenAIRE

    Morales, Ana María

    2002-01-01

    Este trabajo tiene como finalidad generar un constructo teórico coherente que permita el diseño de una política para la enseñanza y el aprendizaje de la lengua escrita en sordos en función de la planificación lingüística. Por ello, se propone como objetivo general: determinar los criterios básicos que debe contemplar una política educativa para sordos. Como objetivos específicos: precisar las vinculaciones existentes entre alfabetización, bilingüismo, biculturalismo, educación y sordera; anal...

  12. SISTEMA EMBEBIDO DE UN AUDÍFONO INTELIGENTE PARA PERSONAS CON DISCAPACIDAD AUDITIVA A TRAVÉS DE SENSORES NEUROLÓGICOS

    Directory of Open Access Journals (Sweden)

    Andrés Díaz

    2015-12-01

    Full Text Available El presente artículo describe el diseño e implementación de un sistema embebido para personas con discapacidad auditiva leve mediante el uso de un casco sensorial EPOC EMOTIV para el control de un arreglo de micrófonos, mejorando la calidad auditiva y comprensión al estar presente a varias fuente de sonido o personas. El principal objetivo es determinar un dispositivo que mejore la calidad de vida de personas con niveles bajos de sordera haciendo uso de tecnologías de última generación.

  13. La percepción sobre la inclusión del alumnado con discapacidad auditiva en la Educación Secundaria, Educación Superior y enseñanzas de régimen especial en Gran Canaria

    OpenAIRE

    Mesa Suárez, José Luis

    2014-01-01

    Programa de doctorado: Formación del Profesorado. [ES] El objetivo principal de esta tesis doctoral es aportar resultados que permitan un mejor conocimiento de la situación de los estudiantes con discapacidad auditiva en la Educación Secundaria Obligatoria, Ciclos Formativos, Estudios Universitarios y Enseñanzas de Régimen Especial en Gran Canaria. Teniendo en cuenta el incremento de estudiantes con sordera o hipoacusia, que esperan ingresar en estas enseñanzas, se plantea la necesidad de ...

  14. Narrativas acerca de la relación de parejas en cuatro sordos de la ciudad de Barrancabermeja

    OpenAIRE

    Calzada Solano, Devy Paola; Carmona Castilla, Carolina

    2016-01-01

    Esta investigación tuvo como objetivo analizar las narrativas personales construidas frente a la vivencia de la relación de pareja en dos hombres y dos mujeres, adultos jóvenes en condición de sordera, residentes en la ciudad de Barrancabermeja. Se trató de una investigación cualitativa y un diseño narrativo, en la que se recogió la información a través de una entrevista semi-estructurada, aplicada en dos sesiones. Los hallazgos indicaron que una relación de pareja representa l...

  15. Nerve injury caused by mandibular block analgesia

    DEFF Research Database (Denmark)

    Hillerup, S; Jensen, Rigmor H

    2006-01-01

    Fifty-four injection injuries in 52 patients were caused by mandibular block analgesia affecting the lingual nerve (n=42) and/or the inferior alveolar nerve (n=12). All patients were examined with a standardized test of neurosensory functions. The perception of the following stimuli was assessed......: feather light touch, pinprick, sharp/dull discrimination, warm, cold, point location, brush stroke direction, 2-point discrimination and pain perception. Gustation was tested for recognition of sweet, salt, sour and bitter. Mandibular block analgesia causes lingual nerve injury more frequently than...... inferior alveolar nerve injury. All grades of loss of neurosensory and gustatory functions were found, and a range of persisting neurogenic malfunctions was reported. Subjective complaints and neurosensory function tests indicate that lingual nerve lesions are more incapacitating than inferior alveolar...

  16. Las enfermedades de Ludwing Van Beethoven

    Directory of Open Access Journals (Sweden)

    Osvaldo Llanos López

    2007-08-01

    Full Text Available La extraordinaria genialidad y productividad musical de Beethoven no fue disminuida por la influencia de sus múltiples dolencias, sino que por el contrario, en períodos críticos, esta se vio incluso exacerbada. A la sordera, su enfermedad más conocida, pero de causa todavía no precisada, se agregaron otras enfermedades, algunas demostradas en la autopsia, como la cirrosis hepática, la nefropatía, la pancreatitis crónica y otros síndromes sin etiología demostrada, como sus alteraciones gastrointestinales, bronquiales, articulares y oculares. Estas enfermedades, que mortificaron seriamente su vida, pero que no frenaron su creatividad, no pudieron ser controladas por los mejores médicos de la época, con los limitados tratamientos disponibles. Los estudios y especulaciones acerca de su historia médica son abundantes en la literatura y no logran establecer tampoco una patología sistémica que explique al menos la mayoría de sus síndromes. El conocimiento más preciso apunta a que su sordera era de causa mixta, que su cirrosis hepática fue provocada por exceso de alcohol y que la causa de su muerte fue una insuficiencia hepática.

  17. Surdez e preconceito: a norma da fala e o mito da leitura da palavra falada

    Directory of Open Access Journals (Sweden)

    Sílvia Andreis Witkoski

    2009-01-01

    Full Text Available Hablar sobre sordera y prejuicio es narrar una de las interfaces del ser sordo. En medio al inmenso abanico que lo envuelve, el artículo trae para la discusión la norma del habla y el mito de la lectura de la palabra hablada, por considerar que ambos legitiman una serie de prácticas orales, afectando peyorativamente la construcción de la identidad del ser sordo y su derecho a una comunicación y formación significativa. En nombre de una seudo integración entre sordos y oyentes, se disfrazan los prejuicios en relación a la sordera y a los sordos, al implícitamente no aceptar su diferencia lingüística, de percepción del mundo y de su forma de ser. Esta discusión es construida esencialmente a partir del recate de muchas vivencias de los propios sordos, con el intuito de mostrar sus matices, descubriendo algunos de los discursos que legitiman esos prejuicios, buscando descubrir las implicaciones dolorosas que generan en la vida de los sordos.

  18. Sarcoid granuloma of the choroid.

    Science.gov (United States)

    Marcus, D F; Bovino, J A; Burton, T C

    1982-12-01

    Two patients were found to have macular choroidal granulomas associated with systemic sarcoidosis. This unusual fundus picture was documented by serial fundus photography and fluorescein angiography. Both patients had a similar clinical picture of decreased vision, chorioretinal granulomas, and overlying neurosensory detachments. Staining of the inflammatory mass with fluorescein and leakage of dye into the neurosensory space was typical. Lymph node biopsies were performed to substantiate the diagnosis. Both patients responded promptly to systemic corticosteroid therapy with dramatic improvement in visual acuity and resolution of the choroidal lesions.

  19. Disease: H00928 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available lous skin lesions and neurosensory deafness. Nonsense mutations in CD151, an essential protein for the proper assembly of the basemen...ntial for the correct assembly of human basement membranes in kidney and skin. ... JOURNAL ... Blood 104:2217-23 (2004) DOI:10.1182/blood-2004-04-1512 ...

  20. Iatrogenic injury to the inferior alveolar nerve

    DEFF Research Database (Denmark)

    Hillerup, Søren

    2008-01-01

    The purpose of this prospective, non-randomised, descriptive study is to characterise the neurosensory deficit and associated neurogenic discomfort in 52 patients with iatrogenic injury to the inferior alveolar nerve (IAN). All patients were examined and followed up according to a protocol...

  1. Trigeminal nerve injury associated with injection of local anesthetics

    DEFF Research Database (Denmark)

    Hillerup, Søren; Jensen, Rigmor H.; Ersbøll, Bjarne Kjær

    2011-01-01

    Background. The authors used comprehensive national registry and clinical data to conduct a study of adverse drug reactions (ADRs), in particular neurosensory disturbance (NSD), associated with local anesthetics used in dentistry. Methods. The study included data sets of annual sales of local...

  2. Psychiatric Symptoms in Alpha-Mannosidosis

    Science.gov (United States)

    Malm, D.; Pantel, J.; Linaker, O. M.

    2005-01-01

    Alpha-mannosidosis is characterized by mild to moderate intellectual disability (ID), moderate to severe neurosensory hearing loss, frequent infections, psychomotor disturbances and skeletal dysmorphism. For the first time, a panel of nine alpha-mannosidosis patients with psychiatric symptoms is presented. The clinical picture has several…

  3. Middle-School-Age Outcomes in Children with Very Low Birthweight.

    Science.gov (United States)

    Taylor, H. Gerry; Klein, Nancy; Minich, Nori M.; Hack, Maureen

    2000-01-01

    Compared outcomes of middle-school-age children born at very low (less than 750-g) or low birthweights (750 to 1,499-g) and full-term. Found that the very-low-weight group fared less well at school age than the low weight and term groups on cognitive functioning, achievement, behavior, and academic performance. Those without neurosensory disorders…

  4. Aneurisma de aorta abdominal y fistula aorto-cava

    Directory of Open Access Journals (Sweden)

    Juan Jose Gonzalez Soler

    2012-03-01

    Full Text Available Paciente de 67 años de edad que acude al servicio de urgencias por dolor dorsolumbar intenso de 4 horas de evolu-ción. Se trata de un paciente con hipoacusia neurosensorial severa que dificulta la anamnesis. Se desconocen factores de riesgo cardiovascular por no constar seguimiento médico habitual.

  5. Trigeminal nerve injury associated with injection of local anesthetics: needle lesion or neurotoxicity?

    DEFF Research Database (Denmark)

    Hillerup, Søren; Jensen, Rigmor H; Ersbøll, Bjarne Kjær

    2011-01-01

    BACKGROUND: The authors used comprehensive national registry and clinical data to conduct a study of adverse drug reactions (ADRs), in particular neurosensory disturbance (NSD), associated with local anesthetics used in dentistry METHODS: The study included data sets of annual sales of local anes...

  6. The vasopressin precursor is not processed in the hypothalamus of Wolfram syndrome patients with diabetes insipidus: evidence for the involvement of PC2 and 7B2

    NARCIS (Netherlands)

    Gabreëls, B. A.; Swaab, D. F.; de Kleijn, D. P.; Dean, A.; Seidah, N. G.; van de Loo, J. W.; van de Ven, W. J.; Martens, G. J.; van Leeuwen, F. W.

    1998-01-01

    Wolfram syndrome (WS) is characterized by optic atrophy, insulin-dependent diabetes mellitus, vasopressin (VP)-sensitive diabetes insipidus, and neurosensory hearing loss. Here we report a disturbance in VP precursor processing in the supraoptic and paraventricular nuclei of WS patients. In these

  7. AVANCES EN REGENERACIÓN AUDITIVA. ESTADO ACTUAL Y PERSPECTIVAS FUTURAS

    OpenAIRE

    Dr. Juan Cristóbal Maass, PhD; Dra. Francisca Hanuch; Dra. Macarena Ormazábal

    2016-01-01

    La sordera es uno de los defectos congénitos más frecuentes en el mundo y puede llegar a alcanzar hasta un 50% en los adultos mayores de 70 años. La mayor parte de la pérdida de audición se produce por daño en las células ciliadas (CC), que son las encargadas de transformar las ondas acústicas mecánicas en señales electroquímicas que se dirigen al área auditiva de la corteza cerebral. Estas células ubicadas en el órgano de Corti (OC) no tienen capacidad regenerativa, por lo que al verse sever...

  8. LA ATENCIÓN ODONTOLÓGICA DEL PACIENTE CON DEFICIENCIA AUDITIVA

    Directory of Open Access Journals (Sweden)

    Alejandro Joaquín Encina Tutuy

    2012-07-01

    Full Text Available La sordera acarrea consecuencias personales y sociales, como ser, dificultades y/o conflictos a la hora de recibir atención de salud. La comunicación juega un rol importante en la relación entre el paciente y el profesional. Si bien las manifestaciones bucales que se reportan son similares a las de los individuos normales, el odontólogo debe conocer y poseer las estrategias y herramientas necesarias para la atención y alcanzar con éxito los objetivos propuestos de tratamiento. El objetivo de este artículo de revisión es poner de relieve ciertas consideraciones a tener en cuenta al momento de atender un paciente con deficiencias auditivas.

  9. LA ATENCIÓN ODONTOLÓGICA DEL PACIENTE CON DEFICIENCIA AUDITIVA

    Directory of Open Access Journals (Sweden)

    Alejandro Joaquín Encina Tutuy

    2012-12-01

    Full Text Available La sordera acarrea consecuencias personales y sociales, como ser, dificultades y/o conflictos a la hora de recibir atención de salud. La comunicación juega un rol importante en la relación entre el paciente y el profesional. Si bien las manifestaciones bucales que se reportan son similares a las de los individuos normales, el odontólogo debe conocer y poseer las estrategias y herramientas necesarias para la atención y alcanzar con éxito los objetivos propuestos de tratamiento. El objetivo de este artículo de revisión es poner de relieve ciertas consideraciones a tener en cuenta al momento de atender un paciente con deficiencias auditivas.

  10. Vascular patterns in the heads of crocodilians: blood vessels and sites of thermal exchange.

    Science.gov (United States)

    Porter, William Ruger; Sedlmayr, Jayc C; Witmer, Lawrence M

    2016-12-01

    Extant crocodilians are a highly apomorphic archosaur clade that is ectothermic, yet often achieve large body sizes that can be subject to higher heat loads. Therefore, the anatomical and physiological roles that blood vessels play in crocodilian thermoregulation need further investigation to better understand how crocodilians establish and maintain cephalic temperatures and regulate neurosensory tissue temperatures during basking and normal activities. The cephalic vascular anatomy of extant crocodilians, particularly American alligator (Alligator mississippiensis) was investigated using a differential-contrast, dual-vascular injection technique and high resolution X-ray micro-computed tomography (μCT). Blood vessels were digitally isolated to create representations of vascular pathways. The specimens were then dissected to confirm CT results. Sites of thermal exchange, consisting of the oral, nasal, and orbital regions, were given special attention due to their role in evaporative cooling and cephalic thermoregulation in other diapsids. Blood vessels to and from sites of thermal exchange were studied to detect conserved vascular patterns and to assess their ability to deliver cooled blood to neurosensory tissues. Within the orbital region, both the arteries and veins demonstrated consistent branching patterns, with the supraorbital, infraorbital, and ophthalmotemporal vessels supplying and draining the orbit. The venous drainage of the orbital region showed connections to the dural sinuses via the orbital veins and cavernous sinus. The palatal region demonstrated a vast plexus that comprised both arteries and veins. The most direct route of venous drainage of the palatal plexus was through the palatomaxillary veins, essentially bypassing neurosensory tissues. Anastomotic connections with the nasal region, however, may provide an alternative route for palatal venous blood to reach neurosensory tissues. The nasal region in crocodilians is probably the most

  11. Bilateral foveal retinoschisis accompanying unilateral peripheral retinoschisis

    Directory of Open Access Journals (Sweden)

    Nilufer Kocak

    2014-01-01

    Full Text Available X-linked juvenile retinoschisis is a rare hereditary retinal disease characterized by a tangential splitting of the neurosensory retina which may cause early-onset visual impairment. Existence of the retinal neurosensory layer splitting on cross-sectional images of optical coherance tomography (OCT and the absence of leakage on fluorescein angiography (FA help confirming the diagnosis. Such diagnostic tests are also helpful in determining the management of the disease. However, most of the retinoschisis cavities remain stable and rarely extend to the posterior pole, many authors suggest laser prophylaxis to avoid the potential risk of retinal detachment due to holes in the outer retinal layer. Herein, we report a case with bilateral foveal retinoschisis accompanying unilateral peripheral retinoschisis who was evaluated with detailed ophthalmologic examination. Visual acuity, fundoscopy, OCT, and FA remained stable in the second year of follow-up after prophylactic argon laser treatment.

  12. Anisometropic amblyopia in a case of type 2 Waardenburg syndrome

    Science.gov (United States)

    Akal, Ali; Göncü, Tugba; Boyaci, Nurefsan; Yılmaz, Ömer Faruk

    2013-01-01

    This study presents a case of an 8-year-old boy with iris heterochromia and anisometropic amblyopia who was diagnosed with Waardenburg syndrome (WS) type 2. An ophthalmic examination revealed iris heterochromia and anisometropic amblyopia in our patient. In the systemic examination, a white forelock and vitiligo on the arms and body were observed and neurosensory hearing loss was revealed, for which the patient used hearing aids. Identification and typing of patients with WS is crucial to address neurosensory hearing loss, glaucoma and fundus changes. While it might be challenging to communicate with a patient with speech and hearing problems, visual acuity should be examined carefully and probable amblyopia should be identified. Anterior segment changes and signs of glaucoma should also be evaluated in detail. PMID:24351514

  13. Anisometropic amblyopia in a case of type 2 Waardenburg syndrome.

    Science.gov (United States)

    Akal, Ali; Göncü, Tugba; Boyaci, Nurefsan; Yılmaz, Ömer Faruk

    2013-12-18

    This study presents a case of an 8-year-old boy with iris heterochromia and anisometropic amblyopia who was diagnosed with Waardenburg syndrome (WS) type 2. An ophthalmic examination revealed iris heterochromia and anisometropic amblyopia in our patient. In the systemic examination, a white forelock and vitiligo on the arms and body were observed and neurosensory hearing loss was revealed, for which the patient used hearing aids. Identification and typing of patients with WS is crucial to address neurosensory hearing loss, glaucoma and fundus changes. While it might be challenging to communicate with a patient with speech and hearing problems, visual acuity should be examined carefully and probable amblyopia should be identified. Anterior segment changes and signs of glaucoma should also be evaluated in detail.

  14. Ontogenetic Shape Change in the Chicken Brain: Implications for Paleontology

    OpenAIRE

    Kawabe, Soichiro; Matsuda, Seiji; Tsunekawa, Naoki; Endo, Hideki

    2015-01-01

    Paleontologists have investigated brain morphology of extinct birds with little information on post-hatching changes in avian brain morphology. Without the knowledge of ontogenesis, assessing brain morphology in fossil taxa could lead to misinterpretation of the phylogeny or neurosensory development of extinct species. Hence, it is imperative to determine how avian brain morphology changes during post-hatching growth. In this study, chicken brain shape was compared at various developmental st...

  15. Large-spot subthreshold transpupillary thermotherapy for chronic serous macular detachment

    Directory of Open Access Journals (Sweden)

    Giuseppe Lo Giudice

    2011-03-01

    Full Text Available Giuseppe Lo Giudice1, Valentina de Belvis2, Marco Tavolato1, Alessandro Galan11San Paolo Ophthalmic Center, San Antonio Hospital, Padova, Italy; 2Paediatric Low Vision Center, Paediatric Rare Eye Disease Center, Department of Paediatrics, University of Padova, ItalyPurpose: To report the effect of subthreshold transpupillary thermotherapy (TTT in treating serous detachment of the neurosensory retina secondary to chronic central serous chorioretinopathy (CCSC.Methods: Seven eyes from five patients with CCSC, persistent serous detachment of the neurosensory retina and a clinical course of between 12 and 60 months were treated. All eyes received large-spot TTT guided by indocyanine green angiography (ICGA. Subthreshold TTT was performed using an 810 nm diode laser with a spot size of 3.0 mm (power was set at 350 mW. Treatment was applied for 60 seconds to the areas of choroidal hyperfluorescence on ICGA.Results: The mean number of TTT sessions was 1.4 ± 0.5. All eyes were followed up for at least 6 months (mean 9.6 ± 3.2 standard deviation; range 6–12 months. The mean logarithm of the minimum angle of resolution best-corrected visual acuity was significantly better compared with baseline. All TTT-treated eyes had stable or improved vision (P < 0.001. Mean optical coherence tomography (OCT central foveal thickness was significantly lower in all patients (P < 0.001 compared with pretreatment OCT, with a reduction in subretinal fluid and resolution of serous detachment associated with anatomical fovea restoration. No patient had any treatment-related side effects.Conclusion: Modified subthreshold TTT appears to have a beneficial effect in treating patients with CCSC and persistent neurosensory detachment. The encouraging results and lack of visually significant complications suggest that further investigation is warranted.Keywords: central serous chorioretinopathy, indocyanine green angiography, neurosensory detachment, transpupillary

  16. Síndrome de Woodhouse Sakati

    Directory of Open Access Journals (Sweden)

    Franklin Aranda

    2008-12-01

    Full Text Available Presentamos un caso de síndrome de Woodhouse Sakati, en una paciente de 11 años de edad, quien presentó alopecia congénita, hipoacusia neurosensorial bilateral, diabetes mellitus insulino dependiente, hipogonadismo primario, retardo del desarrollo psicomotor, comunicación interventricular y disminución de somatomedina C (IGF1. La evolución y el tratamiento de soporte fueron satisfactorios.

  17. Pain responses in Nepalese porters.

    Science.gov (United States)

    Clark, W C; Clark, S B

    1980-07-18

    When tested by the method of limits, Nepalese had much higher pain thresholds to electrical stimulation than Occidentals did. Discriminability was the same for both groups, however, indicating that there were no neurosensory differences. Nepalese had higher (stoical) criteria for reporting pain but were not less sensitive to noxious stimulation. The battery of sensory measurement procedures described may be applied to any modality and are particularly applicable to difficult field conditions.

  18. Fundus autofluorescence in the diagnosis and monitoring of acute retinal necrosis

    OpenAIRE

    Ward, Tyson SJ; Reddy, Ashvini K

    2015-01-01

    Background Acute retinal necrosis (ARN), a vision threatening viral retinitis, is often diagnosed and treated based on clinical findings. These clinical features have been well characterized by various imaging modalities, but not using fundus autofluorescence (FAF), a noninvasive method of evaluating the neurosensory retina and retinal pigment epithelium (RPE) based on the detection of endogenous fluorophores. Findings A patient diagnosed with ARN was followed over a 10-month period to identi...

  19. Should we definitively abandon prophylaxis for patent ductus arteriosus in preterm new-borns?

    OpenAIRE

    Fanos,Vassilios; Pusceddu,Michele; Dessì,Angelica; Marcialis,Maria Antonietta

    2011-01-01

    Although the prophylactic administration of indomethacin in extremely low-birth weight infants reduces the frequency of patent ductus arteriosus and severe intraventricular hemorrhage, it does not appear to provide any long-term benefit in terms of survival without neurosensory and cognitive outcomes. Considering the increased drug-induced reduction in renal, intestinal, and cerebral blood flow, the use of prophylaxis cannot be routinely recommended in preterm neonates. However, a better unde...

  20. Developments in Science and Technology

    Science.gov (United States)

    1984-01-01

    ophthalmology, neurosensory re- search and instrumentation development, cardiovascular systems, patient monitor- ing, therapy and rehabilitation , clinical...session on scenarios. Although scenarios are widely used The term scenario originated in drama but now in analyses, technical evaluations, and wargames and...Wilkinson and D. W. Rabenhorst-High Speed tration Produced during Photoradiation Therapy Us- Imaging Television System, No. 4,453,182 ing a CW

  1. Device for fluorescent control and photodynamic therapy of age-related macula degeneration

    Science.gov (United States)

    Loschenov, Victor B.; Meerovich, Gennadii A.; Budzinskaya, M. V.; Ermakova, N. A.; Shevchik, S. A.; Kharnas, Sergey S.

    2004-07-01

    Age-related macula degeneration (AMD) is a wide spread disease the appearance of which leads to poor eyesight and blindness. A method of treatment is not determined until today. Traditional methods, such as laser coagulation and surgical operations are rather traumatic for eye and often bring to complications. That's why recently a photodynamic method of AMD treatment is studied. Based on photodynamic occlusion of choroidal neovascularization (CNV) with minimal injury to overlying neurosensory retina what increases the efficiency.

  2. Gross and Fine Dissection of Inner Ear Sensory Epithelia in Adult Zebrafish (Danio rerio)

    OpenAIRE

    Liang, Jin; Burgess, Shawn M.

    2009-01-01

    Neurosensory epithelia in the inner ear are the crucial structures for hearing and balance functions. Therefore, it is important to understand the cellular and molecular features of the epithelia, which are mainly composed of two types of cells: hair cells (HCs) and supporting cells (SCs). Here we choose to study the inner ear sensory epithelia in adult zebrafish not only because the epithelial structures are highly conserved in all vertebrates studied, but also because the adult zebrafish is...

  3. Evaluation of a Modified High-Definition Electrode Montage for Transcranial Alternating Current Stimulation (tACS) of Pre-Central Areas

    DEFF Research Database (Denmark)

    Heise, Kirstin Friederike; Kortzorg, Nick; Saturnino, Guilherme Bicalho

    2016-01-01

    Objective: To evaluate a modified electrode montage with respect to its effect on tACS-dependent modulation of corticospinal excitability and discomfort caused by neurosensory side effects accompanying stimulation. Methods: In a double-blind cross-over design, the classical electrode montage for ....... Conclusions: In comparison to the classic montage, the M1 centre-ring montage enables a more focal stimulation of the target area and, at the same time, significantly reduces neurosensory side effects, essential for placebo-controlled study designs.......Objective: To evaluate a modified electrode montage with respect to its effect on tACS-dependent modulation of corticospinal excitability and discomfort caused by neurosensory side effects accompanying stimulation. Methods: In a double-blind cross-over design, the classical electrode montage...... for primary motor cortex (M1) stimulation (two patch electrodes over M1 and contralateral supraorbital area) was compared with an M1 centre-ring montage. Corticospinal excitability was evaluated before, during, immediately after and 15 minutes after tACS (10 min., 20 Hz vs. 30 s low-frequency transcranial...

  4. 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.

  5. Validation of an MRI Brain Injury and Growth Scoring System in Very Preterm Infants Scanned at 29- to 35-Week Postmenstrual Age.

    Science.gov (United States)

    George, J M; Fiori, S; Fripp, J; Pannek, K; Bursle, J; Moldrich, R X; Guzzetta, A; Coulthard, A; Ware, R S; Rose, S E; Colditz, P B; Boyd, R N

    2017-07-01

    The diagnostic and prognostic potential of brain MR imaging before term-equivalent age is limited until valid MR imaging scoring systems are available. This study aimed to validate an MR imaging scoring system of brain injury and impaired growth for use at 29 to 35 weeks postmenstrual age in infants born at Toddler Development, 3rd ed. (Bayley III), and the Neuro-Sensory Motor Developmental Assessment. Early MR imaging global, WM, and deep gray matter scores were negatively associated with Bayley III motor (regression coefficient for global score β = -1.31; 95% CI, -2.39 to -0.23; P = .02), cognitive (β = -1.52; 95% CI, -2.39 to -0.65; P < .01) and the Neuro-Sensory Motor Developmental Assessment outcomes (β = -1.73; 95% CI, -3.19 to -0.28; P = .02). Early MR imaging cerebellar scores were negatively associated with the Neuro-Sensory Motor Developmental Assessment (β = -5.99; 95% CI, -11.82 to -0.16; P = .04). Results were reconfirmed at term-equivalent-age MR imaging. This clinically accessible MR imaging scoring system is valid for use at 29 to 35 weeks postmenstrual age in infants born very preterm. It enables identification of infants at risk of adverse outcomes before the current standard of term-equivalent age. © 2017 by American Journal of Neuroradiology.

  6. Hand-arm vibration and the risk of vascular and neurological diseases-A systematic review and meta-analysis.

    Directory of Open Access Journals (Sweden)

    Tohr Nilsson

    Full Text Available Increased occurrence of Raynaud's phenomenon, neurosensory injury and carpal tunnel syndrome has been reported for more than 100 years in association with work with vibrating machines. The current risk prediction modelling (ISO-5349 for "Raynaud's phenomenon" is based on a few studies published 70 to 40 years ago. There are no corresponding risk prediction models for neurosensory injury or carpal tunnel syndrome, nor any systematic reviews comprising a statistical synthesis (meta-analysis of the evidence.Our aim was to provide a systematic review of the literature on the association between Raynaud's phenomenon, neurosensory injuries and carpal tunnel syndrome and hand-arm vibration (HAV exposure. Moreover the aim was to estimate the magnitude of such an association using meta-analysis.This systematic review covers the scientific literature up to January 2016. The databases used for the literature search were PubMed and Science Direct. We found a total of 4,335 abstracts, which were read and whose validity was assessed according to pre-established criteria. 294 articles were examined in their entirety to determine whether each article met the inclusion criteria. The possible risk of bias was assessed for each article. 52 articles finally met the pre-established criteria for inclusion in the systematic review.The results show that workers who are exposed to HAV have an increased risk of vascular and neurological diseases compared to non-vibration exposed groups. The crude estimate of the risk increase is approximately 4-5 fold. The estimated effect size (odds ratio is 6.9 for the studies of Raynaud's phenomenon when including only the studies judged to have a low risk of bias. The corresponding risk of neurosensory injury is 7.4 and the equivalent of carpal tunnel syndrome is 2.9.At equal exposures, neurosensory injury occurs with a 3-time factor shorter latency than Raynaud's phenomenon. Which is why preventive measures should address this

  7. Los aportes de la tecnología informática a la educación especial. El caso de la escuela Nº 9 Keoken de Río Turbio

    Directory of Open Access Journals (Sweden)

    Mariana Laura Alaniz

    2014-06-01

    Full Text Available Esta investigación da cuenta de los factores que facilitan o dificultan el aprendizaje con Tecnología Informática en una escuela de Educación Especial, considerando el abordaje de las necesidades educativas de un grupo de alumnos con: ceguera, disminución visual, sordera e hipoacusia. Se exponen, además, los conflictos que se presentan en este proceso y una forma de afrontar este recorte de la realidad mediante la elaboración de un plan estratégico. Nos interesa conocer los aportes de la tecnología informática que permitan la integración global de las personas, con la finalidad de posibilitar un mayor desarrollo de su capacidades intelectuales y tratar de concientizar a los profesionales del campo educativo sobre la necesidad e importancia de introducir la informática en su tarea docente, desde un enfoque inclusivo e integrador, buscando un camino hacia una mayor autonomía del individuo, no sólo como una herramienta útil, sino porque permite la construcción de los conocimientos y puesta en práctica de los valores involucrados en el proceso.

  8. SINDROME KID: ABORDAJE INTERDISCIPLINARIO

    Directory of Open Access Journals (Sweden)

    Carla De Negri

    Full Text Available Se presenta el caso clínico, de una niña de 2 años de edad, nacida en el Centro Hospitalario Pereira Rossell, portadora del Síndrome KID. Se trata de una displasia congénita ectodérmica caracterizada por la asociación de queratitis, ictiosis y sordera. Es producida por un desorden autosómico dominante, esporádico. Algunos autores lo refieren asociado a la presencia de alteraciones estructurales de órganos dentarios, del tipo hipoplasia e hipomineralización del esmalte y también a gingivitis y candidiasis a nivel de la mucosa bucal. La intervención oportuna del odontopediatra, integrando el equipo de salud, brinda un aporte importante, en la búsqueda de estrategias terapéuticas adecuadas al paciente y al contexto asistencial. El abordaje de tratamiento en pacientes portadores del Síndrome KID debe ser multidisciplinario, requiriendo en niños, la integración de un equipo de salud con pediatra, dermatólogo, oftalmólogo, otorrinolaringólogo y odontopediatra

  9. La experiencia visual de los sordos. Consideraciones políticas, lingüísticas y epistemológicas

    Directory of Open Access Journals (Sweden)

    Leonardo Peluso

    2015-12-01

    Full Text Available Resumen Este trabajo pretende deconstruir la concepción, largamente extendida del carácter visual de los sordos. Esta concepción supone, en general, una banalización de las relaciones que los sordos establecen con el mundo circundante y se nutre de una perspectiva discapacitológica de la sordera. En el caso de la educación, esta banalización llevaría a la idea de que el carácter visual de los sordos puede y debe ser construido pedagógicamente. Nosotros mostraremos que la relación de los sordos con lo visual cobra particular sentido cuando pensamos que la lengua del grupo discurre por el canal visual y que eso confiere particularidades a su experiencia lingüística y discursiva. Los sordos organizan el mundo lingüístico y enunciativo en el plano visual y, desde esa perspectiva, se puede considerar que el carácter visual de los sordos no les es externo, sino constitutivo de su subjetividad y de la forma en que organizan la realidad.

  10. Síndrome branquio-oto-renal: A propósito de una familia Branchio-oto-renal síndrome: Apropos of a family

    Directory of Open Access Journals (Sweden)

    Gretsy Arcas Ermeso

    2005-06-01

    Full Text Available El síndrome branquio-oto-renal es un trastorno que se transmite con un patrón autosómico dominante caracterizado por lesiones producidas por un trastorno embriológico branquial (fístulas o quistes branquiales, alteraciones del oído (hoyuelos o fositas preauriculares, apéndices, hipoplasias de pabellones auriculares y sordera, así como diversos tipos de displasia renal que pueden ir desde duplicaciones, desplazamientos e hipoplasias, hasta la agenesia renal y otras malformaciones mayores. Se presenta una familia integrada por un padre y dos hijos de ambos sexos y de diferentes matrimonios, en la cual se constató la presencia de este síndrome poco frecuenteThe branchio-oto-renal syndrome is a disorder that is transmitted with a dominant autosomic pattern characterized y lesions produced by a branchial embriological disorder (fistulas or branchial cysts, alterations of the ear (preauricular small pits or fossae, appendices, hypoplasias of auricular pavilions and deafness, as well as diverse types of renal dysplasia that may go from duplications and displacements to renal agenesia and other major malformations. A family composed of a father and two children of both sexes from different marriages, in which the presence of this uncommon syndrome was confirmed, is presented

  11. Aspectos del lenguaje en la enfermedad de Gilles de la Tourette: revisión sistemática de la literatura

    Directory of Open Access Journals (Sweden)

    Maritza Lorena Arroyo Riascos

    2011-12-01

    Full Text Available Se ha visto que el Síndrome de Gilles de la Tourette (SGT tiene un componente lingüístico importante y que algunos autores han estudiado. El presente artículo busca encontrar la evidencia existente en esta relación. El SGT se produce por una alteración en la neurotransmisión de dopamina en los circuitos frontales y subcorticales y una de sus manifestaciones son los tics vocales simples y complejos. Como el síntoma más llamativo de la enfermedad es la coprolalia, se ha estudiado desde varios puntos de vista, encontrándose que no está presente en todos los pacientes con SGT, que no se correlaciona con la severidad de la enfermedad y que el aspecto cultural influye en la expresión de este síntoma. Se han reportado casos de coprolalia mental y coprolalia en pacientes con sordera congénita. Los tics motores complejos pueden estar asociados con ansiedad severa correlacionándose con fallas en los procesos de inhibición. Otra alteración que se ha encontrado en pacientes con SGT es la disfluencia, la cual es diferente de la tartamudez clásica. A nivel del lenguaje en el SGT se han observado una serie de conocimientos rápidos que incluyen el procesamiento cognitivo de las formas de lenguaje gobernadas por reglas.

  12. LA EXPERIENCIA DE UNA CLASE INTEGRADA MEDIANTE RESOLUCIÓN DE PROBLEMAS

    Directory of Open Access Journals (Sweden)

    Fernanda Ortiz Rivera

    2014-05-01

    Full Text Available Es una experiencia en la Institución educativa Tomas Cipriano de Mosquera con estudiantes del ciclo noveno en una clase de ciencias naturales sobre el sentido de la audición, teniendo en cuenta integrar la biología  y la física  mediante el tema del órgano de la audición con el tema del sonido, en el marco de un enfoque didáctico por resolución de problemas, en el cual la pregunta problema central que se generó a los estudiantes, producto de consultar sus intereses, fue: ¿por qué se produce la sordera? Esta pregunta se realizó al comienzo y al final de la clase, mostrando de esta manera al final buenos resultados de aprendizaje en los estudiantes, ya que fueron construyendo  nociones, ideas y conceptos necesarios sobre el sonido con sus propiedades y cualidades; y la audición con las funciones y partes del oído, para poder resolver la pregunta central gracias a una secuencia didáctica de clase que construimos cuidadosamente en el que incluía experimentos, lecturas, explicaciones, materiales didácticos, entre otros, siendo así una clase muy activa y participativa, ya que el estudiante siempre fue el que llevo el papel principal de la clase.

  13. ANO IMPERFORADO Y CATARATA CONGÉNITA EN EL SÍNDROME DE JOHNSON-MCMILLIN HALLAZGOS NO REPORTADOS O ADQUIRIDOS

    Directory of Open Access Journals (Sweden)

    Francisco Cammarata-Scalisi

    2013-08-01

    Full Text Available Johnson et al. en 1983, describieron 16 casos en una familia que presentó alopecia, anosmia o hiposmia, sordera de conducción, microtia y/o atresia de conducto auditivo externo e hipogonadismo hipogonadrotófico, que mostraba un patrón de herencia autosómico dominante, con expresividad variable. Otras manifestaciones menos constantes incluyeron asimetría facial, retardo mental, cardiopatía congénita, paladar hendido y estenosis de coanas. Aparte de estos casos, solo siete pacientes con el síndrome de Johnson-McMillin han sido reportados hasta el momento. La patogénesis de esta entidad es incierta y el diagnóstico diferencial es amplio. Se describe un nuevo caso en una lactante femenina de ocho meses en el cual la alopecia universal, la microcefalia, la parálisis facial, el paladar blando hendido y las alteraciones a nivel de pabellones auriculares fueron significativos para establecer el diagnósticoLa paciente también presentó otros signos clínicos no asociados al síndrome, como el ano imperforado y la catarata congénita bilateral.

  14. Detección de un caso síndrome de Pallister-Killian diagnosticado por citogenética convencional

    Directory of Open Access Journals (Sweden)

    Carolina Isaza de Lourido

    Full Text Available El síndrome de Pallister-Killian es producido por una tetrasomía del brazo corto del cromosoma 12 en algunas células del cuerpo, debido a la presencia de un isocromosoma (12p, mientras que el resto de las células tienen un complemento cromosómico normal, fenómeno al cual se le denomina mosaicismo cromosómico. Se considera de ocurrencia esporádica, con muy bajo riesgo de recurrencia, y afecta igualmente a hombres y mujeres. El síndrome de Pallister-Killian o tetrasomía 12p en mosaico, tiene un fenotipo amplio y no específico, que se caracteriza con mayor frecuencia por hipotonía, retardo mental severo, sordera y convulsiones, que pueden empeorar con la edad. Se reporta el caso de un niño diagnosticado con síndrome de Pallister-Killian en Colombia, y este reporte hace referencia a las dificultades para realizar el diagnóstico de la anomalía cromosómica, ya que no se sospecha el síndrome y el cariotipo convencional puede dar resultado negativo.

  15. ANO IMPERFORADO Y CATARATA CONGÉNITA EN EL SÍNDROME DE JOHNSON-MCMILLIN HALLAZGOS NO REPORTADOS O ADQUIRIDOS

    Directory of Open Access Journals (Sweden)

    Francisco Cammarata-Scalisi

    2012-01-01

    Full Text Available Johnson et al. en 1983, describieron 16 casos en una familia que presentó alopecia, anosmia o hiposmia, sordera de conducción, microtia y/o atresia de conducto auditivo externo e hipogonadismo hipogonadrotófico, que mostraba un patrón de herencia autosómico dominante, con expresividad variable. Otras manifestaciones menos constantes incluyeron asimetría facial, retardo mental, cardiopatía congénita, paladar hendido y estenosis de coanas. Aparte de estos casos, solo siete pacientes con el síndrome de Johnson-McMillin han sido reportados hasta el momento. La patogénesis de esta entidad es incierta y el diagnóstico diferencial es amplio. Se describe un nuevo caso en una lactante femenina de ocho meses en el cual la alopecia universal, la microcefalia, la parálisis facial, el paladar blando hendido y las alteraciones a nivel de pabellones auriculares fueron significativos para establecer el diagnósticoLa paciente también presentó otros signos clínicos no asociados al síndrome, como el ano imperforado y la catarata congénita bilateral.

  16. What are we telling the parents of extremely preterm babies?

    Science.gov (United States)

    Boland, Rosemarie Anne; Davis, Peter Graham; Dawson, Jennifer Anne; Doyle, Lex William

    2016-06-01

    Parent counselling and decision-making regarding the management of preterm labour and birth are influenced by information provided by healthcare professionals regarding potential infant outcomes. The aim of this study was to determine whether perinatal healthcare providers had accurate perceptions of survival and major neurosensory disability rates of very preterm infants born in non-tertiary hospitals ('outborn') and tertiary perinatal centres ('inborn'). A web-based survey was distributed to midwives, nurses, obstetricians and neonatologists working in non-tertiary and tertiary maternity hospitals, and the perinatal/neonatal emergency transport services in Victoria, Australia. Estimates of survival rates at 24 and 28-weeks' gestation were compared with actual survival rates of a population-based cohort of 24 and 28-weeks' gestation infants, born free of lethal anomalies in Victoria in 2001-2009. Estimates of major neurosensory disability rates in 24 and 28-week survivors were compared with actual disability rates in 24 and 28-week children born in Victoria averaged over three eras: 1991-1992, 1997 and 2005. Response rates varied as follows: 83% of non-tertiary midwives, 4% of obstetricians, 55% of tertiary centre staff and 68% of transport team staff responded (total of 30%). Overall, respondents underestimated survival and overestimated major neurosensory disability rates in both outborn and inborn 24 and 28-week infants. Outborn infants were perceived to have much worse prospects for survival and for survival with major disability compared with inborn peers. Many clinicians overestimated rates of adverse outcomes. These clinicians may be misinforming parents about their child's potential for a favourable outcome. © 2016 The Royal Australian and New Zealand College of Obstetricians and Gynaecologists.

  17. Outcome at 2 Years after Dextrose Gel Treatment for Neonatal Hypoglycemia: Follow-Up of a Randomized Trial.

    Science.gov (United States)

    Harris, Deborah L; Alsweiler, Jane M; Ansell, Judith M; Gamble, Gregory D; Thompson, Benjamin; Wouldes, Trecia A; Yu, Tzu-Ying; Harding, Jane E

    2016-03-01

    To determine neurodevelopmental outcome at 2 years' corrected age in children randomized to treatment with dextrose gel or placebo for hypoglycemia soon after birth (The Sugar Babies Study). This was a follow-up study of 184 children with hypoglycemia (dextrose (90/118, 76%) or placebo gel (94/119, 79%). Assessments were performed at Kahikatea House, Hamilton, New Zealand, and included neurologic function and general health (pediatrician assessed), cognitive, language, behavior, and motor skills (Bayley Scales of Infant and Toddler Development, Third Edition), executive function (clinical assessment and Behaviour Rating Inventory of Executive Function-Preschool Edition), and vision (clinical examination and global motion perception). Coprimary outcomes were neurosensory impairment (cognitive, language or motor score below -1 SD or cerebral palsy or blind or deaf) and processing difficulty (executive function or global motion perception worse than 1.5 SD from the mean). Statistical tests were two sided with 5% significance level. Mean (± SD) birth weight was 3093 ± 803 g and mean gestation was 37.7 ± 1.6 weeks. Sixty-six children (36%) had neurosensory impairment (1 severe, 6 moderate, 59 mild) with similar rates in both groups (dextrose 38% vs placebo 34%, relative risk 1.11, 95% CI 0.75-1.63). Processing difficulty also was similar between groups (dextrose 10% vs placebo 18%, relative risk 0.52, 95% CI 0.23-1.15). Dextrose gel is safe for the treatment of neonatal hypoglycemia, but neurosensory impairment is common among these children. Australian New Zealand Clinical Trials Registry: ACTRN 12608000623392. Copyright © 2016 Elsevier Inc. All rights reserved.

  18. Outcome at two years after dextrose gel treatment for neonatal hypoglycemia; Follow up of a randomized trial

    Science.gov (United States)

    Harris, Deborah L; Alsweiler, Jane M; Ansell, Judith M; Gamble, Greg D; Thompson, Ben; Wouldes, Trecia A; Yu, Tzu-Ying; Harding, Jane E

    2015-01-01

    Objective To determine neurodevelopmental outcome at two years’ corrected age in children randomized to treatment with dextrose gel or placebo for hypoglycemia soon after birth (The Sugar Babies Study). Study design This was a follow-up study of 184 children who had been hypoglycemic (dextrose (90/118, 76%) or placebo gel (94/119, 79%). Assessments were performed at Kahikatea House, Hamilton, New Zealand, and included neurological function and general health (Pediatrician assessed), cognitive, language, behaviour and motor skills (Bayley-III), executive function (clinical assessment and BRIEF-P), and vision (clinical examination and global motion perception). Co-primary outcomes were neurosensory impairment (cognitive, language or motor score below −1 SD or cerebral palsy or blind or deaf) and processing difficulty (executive function or global motion perception worse than 1.5 SD from the mean). Statistical tests were two sided with 5% significance level. Results Mean (±SD) birth weight was 3093 ± 803 g and mean gestation was 37.7 ±1.6 weeks. Sixty-six children (36%) had neurosensory impairment (1 severe, 6 moderate, 59 mild) with similar rates in both groups (dextrose 38% vs. placebo 34%, RR 1.11, 95% CI 0.75–1.63). Processing difficulty was also similar between groups (dextrose 10% vs. placebo 18%, RR 0.52, 95% CI 0.23–1.15). Conclusions Dextrose gel is safe for treatment of neonatal hypoglycemia, but neurosensory impairment is common amongst these children. PMID:26613985

  19. Retinal, visual, and refractive development in retinopathy of prematurity

    Science.gov (United States)

    Moskowitz, Anne; Hansen, Ronald M; Fulton, Anne B

    2016-01-01

    The pivotal role of the neurosensory retina in retinopathy of prematurity (ROP) disease processes has been amply demonstrated in rat models. We have hypothesized that analogous cellular processes are operative in human ROP and have evaluated these presumptions in a series on non-invasive investigations of the photoreceptor and post-receptor peripheral and central retina in infants and children. Key results are slowed kinetics of phototransduction and deficits in photoreceptor sensitivity that persist years after ROP has completely resolved based on clinical criteria. On the other hand, deficits in post-receptor sensitivity are present in infancy regardless of the severity of the ROP but are not present in older children if the ROP was so mild that it never required treatment and resolved without a clinical trace. Accompanying the persistent deficits in photoreceptor sensitivity, there is increased receptive field size and thickening of the post-receptor retinal laminae in the peripheral retina of ROP subjects. In the late maturing central retina, which mediates visual acuity, attenuation of multifocal electroretinogram activity in the post-receptor retina led us to the discovery of a shallow foveal pit and significant thickening of the post-receptor retinal laminae in the macular region; this is most likely due to failure of the normal centrifugal movement of the post-receptor cells during foveal development. As for refractive development, myopia, at times high, is more common in ROP subjects than in control subjects, in accord with refractive findings in other populations of former preterms. This information about the neurosensory retina enhances understanding of vision in patients with a history of ROP, and taken as a whole, raises the possibility that the neurosensory retina is a target for therapeutic intervention. PMID:28539805

  20. Piezosurgery for Sagittal Split Osteotomy: Procedure Duration and Postoperative Sensory Perturbation.

    Science.gov (United States)

    Köhnke, Robert; Kolk, Andreas; Kluwe, Lan; Ploder, Oliver

    2017-09-01

    To evaluate piezosurgery for bilateral sagittal split osteotomy (BSSO) for its duration and inferior alveolar nerve (IAN) perturbation. In this prospective randomized study, the authors evaluated 100 BSSO procedures in 50 patients. Piezoelectric (group I) and conventional (group II) osteotomies were carried out on each side of the mandible of a patient by 2 specialists. The surgeons had at least 1 year of experience using piezosurgery. The period from incision to complete splitting of the mandibular bone was recorded (ie, procedure duration). The intraoperative status (visibility and relocation) of the IAN also was recorded. The neurosensory function of the IAN was measured by the 2-point discrimination threshold and static light touch methods before surgery and postoperatively (1, 3, and 6 weeks and 6 and 12 months). Parameters were compared between the test groups by the paired t, nonparametric Wilcoxon, or χ 2 test. Intergroup comparison showed the mean duration of osteotomy was significantly shorter for group I (17 ± 6 vs 25 ± 9 minutes; P < .001). The rate of intraoperative exposures of the IAN was slightly lower for group I (68%) compared with group II (81%). However, the difference was not relevant. Neurosensory disturbance and recovery of the IAN did not differ between groups. Piezoelectric osteotomy requires considerably less time than conventional mechanical approaches, but shows no advantage in preventing neurosensory perturbation. Copyright © 2017 American Association of Oral and Maxillofacial Surgeons. Published by Elsevier Inc. All rights reserved.

  1. Profile of Patients of the Auditory Health of the State of Santa Catarina Served at HU-UFSC

    Directory of Open Access Journals (Sweden)

    Dimatos, Oscar Cardoso

    2011-01-01

    Full Text Available Introduction: Hearing is one of the essential functions for the development of language and its deficiency may lead to several consequences. Objective: To describe the profile of patients of the Hearing Health Program of the State of Santa Catarina attended at the College Hospital of the Federal University of Santa Catarina. Method:We performed a retrospective study with the patients with hearing aid indication attended in the years 2007 and 2008. They were divided into 2 groups: children ( 18 years. We assessed the following: age, sex, loss type and degree, duration, co-morbidity and probable etiology. Results: 304 reports were reviewed, 10.2% of the children group and 80.8% of the adult group. In the children group, the mean age was of 7.7±5,4 years, with 58.06% boys and 41.94% girls, and in the adult group the mean age was of 61±16 years, with 52.38% women and 47.62% men. The neurosensorial hearing loss was found more frequently in both groups. In the children group, the severe degree loss was more frequent, and in the adult group, the moderate and moderate to severe degrees were more frequent. The main etiologies were genetic/unknown causes in the children group and presbycusis in the adults group. Conclusion:In the children group, most was formed by boys with neurosensorial loss of light and severe degrees, duration > 1 year and without co-morbidities. In the adult group, most was formed by women with neurosensorial loss of moderate and moderate-severe degrees, duration > 5 year and with co-morbidities.

  2. Management of fractures of the mandibular body and symphysis.

    Science.gov (United States)

    Goodday, Reginald H B

    2013-11-01

    Mandibular fracture, specifically in the symphysis and body regions combined, is the most common facial fracture requiring hospitalization in North America. The primary treatment objective is to restore form and function by achieving anatomic reduction and placing fixation that eliminates mobility of the bone fragments. Several treatment options and surgical techniques are available for performing closed or open reduction. Special considerations are necessary when treating pediatric patients and fractures of the edentulous mandible. Complications relating to the tooth and denture-bearing regions of the mandible include infection, nonunion, and neurosensory changes. Copyright © 2013 Elsevier Inc. All rights reserved.

  3. Should we definitively abandon prophylaxis for patent ductus arteriosus in preterm new-borns?

    Directory of Open Access Journals (Sweden)

    Vassilios Fanos

    2011-01-01

    Full Text Available Although the prophylactic administration of indomethacin in extremely low-birth weight infants reduces the frequency of patent ductus arteriosus and severe intraventricular hemorrhage, it does not appear to provide any long-term benefit in terms of survival without neurosensory and cognitive outcomes. Considering the increased drug-induced reduction in renal, intestinal, and cerebral blood flow, the use of prophylaxis cannot be routinely recommended in preterm neonates. However, a better understanding of the genetic background of each infant may allow for individualized prophylaxis using NSAIDs and metabolomics.

  4. Lingual nerve injury II. Observations on sensory recovery after micro-neurosurgical reconstruction

    DEFF Research Database (Denmark)

    Hillerup, S; Stoltze, Kaj

    2007-01-01

    /dull discrimination, warm, cold, location of touch, and brush stroke direction, pain perception and two-point discrimination. The rate of recovery was highest during the first 6 months. Females were more often affected than males, but recovery was not influenced by gender. The distribution of neurogenic discomfort......The aim of this study was to report on neurosensory recovery after micro-surgical lingual nerve repair, and to evaluate the effect on recovery of age, delay in repair and gender of the patient. Seventy-four patients entered the study. The micro-surgical repair performed was direct nerve suture (n...

  5. Perfil epidemiológico de la hipoacusia en un personal de ala rotatoria de la compañía Guaymaral (Policía Nacional De Colombia)

    OpenAIRE

    Vásquez Quintero, Rafael

    2013-01-01

    La hipoacusia neurosensorial es la pérdida de la audición producida por la lesión de elementos neurosensoriales cocleares o del nervio coclear debida a medios físicos o de otra naturaleza dentro de los cuales principalmente se encuentra el ruido. Una décima parte de las hipoacusias están relacionadas con la exposición al ruido laboral, sin embargo existen otros factores que se deben tener en cuenta como la exposición a ruido fuera del trabajo En este estudio descriptivo obse...

  6. Diabetes mellitus, diabetes insipidus, optic atrophy, and deafness: A case of Wolfram (DIDMOAD) syndrome.

    Science.gov (United States)

    Maleki, Nasrollah; Bashardoust, Bahman; Zakeri, Anahita; Salehifar, Azita; Tavosi, Zahra

    2015-01-01

    To report a case of Wolfram syndrome (WS) characterized by diabetes mellitus, diabetes insipidus, progressive optic atrophy, and deafness. A 19-year-old female patient, a known case of diabetes mellitus type I from six years before, presented with progressive vision loss since four years earlier. On fundoscopic examination, she had bilateral optic atrophy without diabetic retinopathy. The patient also had diabetes insipidus, neurosensory deafness, and neurogenic bladder. WS should be considered a differential diagnosis in patients with diabetes mellitus who present with optic atrophy, and it is necessary to perform a hearing test as well as collecting 24-h urine output.

  7. Perfil de la exposición ocupacional a ruido en procesos de producción de cemento en Colombia (2010 - 2015)

    OpenAIRE

    Rojas Hernández, Juan Esteban; Herrera B., Diego

    2015-01-01

    La exposición a ruido se considera uno de los principales factores de riesgo involucrados en la génesis de hipoacusia neurosensorial, produciendo deterioro en la calidad de vida de la población trabajadora y pérdidas económicas en las empresas. Se considera que los sectores económicos más expuestos a este factor de riesgo son la industria manufacturera, la construcción, las refinerías de petróleo y las centrales hidroeléctricas. El presente estudio de corte transversal pretende establecer ...

  8. Aproximación a un modelo de costo eficacia de protectores auditivos en el ambiente laboral

    OpenAIRE

    Ivonne Valero-Pacheco; Martha Isabel Riaño-Casallas; Frady Rodríguez-Páez

    2014-01-01

    Introducción: La escasa información disponible en relación con modelos de evaluación de costo efectividad de la protección auditiva, para la prevención de la hipoacusia neurosensorial inducida por el ruido laboral en Colombia, así como la confiabilidad de la información del nivel de atenuación de ruido que es suministrada por los fabricantes de elementos de protección auditiva, justificaron el desarrollo de esta investigación. Objetivos: Proponer un modelo de evaluación de costo eficacia de p...

  9. Visual acuity and full-field electroretinography in patients with Usher's syndrome

    OpenAIRE

    Mendieta, Luana; Berezovsky, Adriana; Salomão, Solange Rios; Sacai, Paula Yuri; Pereira, Josenilson Martins; Fantini, Sérgio Costa

    2005-01-01

    A síndrome de Usher (SU) é doença autossômica recessiva caracterizada por perda auditiva neuro-sensorial acompanhada de retinose pigmentária (RP). OBJETIVO: Analisar a eletrorretinografia de campo total (ERG) e a acuidade visual (AV) em pacientes com síndrome de Usher tipos I e II. MÉTODOS: Foram estudadas as respostas da eletrorretinografia de campo total e a acuidade visual de 22 pacientes (idade média = 26,8±16,8 anos). Destes, 17 tinham síndrome de Usher tipo I e 5 tinham síndrome ...

  10. Usher syndrome : molecular analysis of USH2 genes and development of a next-generation sequencing platform

    OpenAIRE

    García-García, Gema

    2013-01-01

    El síndrome de Usher (USH) es una enfermedad hereditaria autosómica recesiva, caracterizada por la asociación de hipoacusia neurosensorial, retinosis pigmentaria y, en ocasiones, alteración de la función vestibular. Clínicamente, el USH se puede clasificar en tres tipos (USH1, USH2 y USH3), principalmente en base a la gravedad y progresión de la hipoacusia y presencia o no de disfunción vestibular. El USH es heterogéneo tanto a nivel clínico como genético y, hasta la fecha, se han descrito 11...

  11. Acuidade visual e eletrorretinografia de campo total em pacientes com síndrome de Usher

    OpenAIRE

    Mendieta,Luana; Berezovsky,Adriana; Salomão,Solange Rios; Sacai,Paula Yuri; Pereira,Josenilson Martins; Fantini,Sérgio Costa

    2005-01-01

    A síndrome de Usher (SU) é doença autossômica recessiva caracterizada por perda auditiva neuro-sensorial acompanhada de retinose pigmentária (RP). OBJETIVO: Analisar a eletrorretinografia de campo total (ERG) e a acuidade visual (AV) em pacientes com síndrome de Usher tipos I e II. MÉTODOS: Foram estudadas as respostas da eletrorretinografia de campo total e a acuidade visual de 22 pacientes (idade média = 26,8±16,8 anos). Destes, 17 tinham síndrome de Usher tipo I e 5 tinham síndrome ...

  12. Aspectos médicos, genéticos y psicosociales del síndrome Usher

    OpenAIRE

    Dyce Gordon, Elisa; Mapolón Arcendor, Yolanda; Santana Álvarez, Jorge

    2011-01-01

    Fundamento: el síndrome Usher es una enfermedad genética, que se caracteriza por hipoacusia neurosensorial progresiva bilateral congénita, pérdida de visión debida a la retinosis pigmentaria y en ocasiones presenta también trastornos vestibulares. Objetivo: describir los principales aspectos médicos, genéticos y psicosociales presentes en los pacientes con síndrome Usher. Método: se realizó un estudio descriptivo transversal en 14 pacientes con diagnóstico de síndrome Usher atendidos en el Ce...

  13. Fibromyalgia syndrome: considerations for dental hygienists.

    Science.gov (United States)

    Walters, Amber; Tolle, Susan L; McCombs, Gayle M

    2015-04-01

    Fibromyalgia syndrome (FMS) is a neurosensory disorder characterized by widespread musculoskeletal pain. Typically persistent fatigue, depression, limb stiffness, non-refreshing sleep and cognitive deficiencies are also experienced. Oral symptoms and pain are common, requiring adaptations in patient management strategies and treatment interventions. Appropriate dental hygiene care of patients suffering with this disorder is contingent upon an understanding of disease epidemiology, pathophysiology, clinical characteristics, oral signs and symptoms, as well as treatment approaches. With this information dental hygienists will be better prepared to provide appropriate and effective treatment to patients with FMS. Copyright © 2015 The American Dental Hygienists’ Association.

  14. Visual memory and learning in extremely low-birth-weight/extremely preterm adolescents compared with controls: a geographic study.

    Science.gov (United States)

    Molloy, Carly S; Wilson-Ching, Michelle; Doyle, Lex W; Anderson, Vicki A; Anderson, Peter J

    2014-04-01

    Contemporary data on visual memory and learning in survivors born extremely preterm (EP; Visual learning and memory data were available for 221 (74.2%) EP/ELBW subjects and 159 (60.7%) controls. EP/ELBW adolescents exhibited significantly poorer performance across visual memory and learning variables compared with controls. Visual learning and delayed visual memory were particularly problematic and remained so after controlling for visual-motor integration and visual perception and excluding adolescents with neurosensory disability, and/or IQ visual memory and learning outcomes compared with controls, which cannot be entirely explained by poor visual perceptual or visual constructional skills or intellectual impairment.

  15. Desprendimiento de retina

    Directory of Open Access Journals (Sweden)

    L. Jaime Claramunt, Dr.

    2010-11-01

    Full Text Available El desprendimiento de retina (DR consiste en la separación entre la retina neurosensorial y el epitelio pigmentario subyacente. Su forma más frecuente es el DR regmatógeno, causado por una rotura en la retina. Se manifiesta generalmente como un defecto en el campo visual o mala visión. Si se pesquisa y trata oportunamente tiene buenas posibilidades de éxito. No obstante, sigue siendo una causa importante de mala visión y ceguera, por lo que su prevención tiene un rol fundamental.

  16. Fundus autofluorescence in patients with central serous chorioretinopathy

    OpenAIRE

    Santana Alas, Eva R; Arencibia González, Danaides B; Gonzales Díaz, Rafael; Garcés Fernández, Ailén; Lapido Polanco, Suzel; Velázquez Villares, Yolanda

    2010-01-01

    OBJETIVO: Describir las características de la autofluorescencia de fondo en pacientes con coriorretinopatía serosa central y determinar su relación con las alteraciones funcionales y anatómicas de la región macular. MÉTODOS: Estudio descriptivo, transversal en 21 ojos (21 pacientes) con coriorretinopatia serosa central en diferentes estadios evolutivos. Se identificó el patrón de autofluorescencia en el área de desprendimiento neurosensorial, se usó el angiógrafo retinal de Heidelberg a 30°. ...

  17. Síndrome de Waardenburg: las discapacidades y el aspecto físico, su vinculación con el rendimiento académico y las relaciones sociales

    OpenAIRE

    Castro Pérez, Fidel; Sanabria Negrín, José Guillermo; Torres Capote, Marisela; Iviricu Tielves, Rolando Jesús; González Serrano, Heidy

    2012-01-01

    Introducción: el síndrome de Waardenburg es una entidad infrecuente, que cursa con cierto grado de discapacidad cuando aparece la hipoacusia neurosensorial y la discapacidad visual; se ha detectado en el municipio Sandino en Pinar del Río, una familia con 26 individuos vivos portadores del síndrome de Waardenburg. Objetivo: determinar la posible relación de estas discapacidades con el rendimiento académico y las relaciones sociales en estas personas. Material y método: se realizó un estudio d...

  18. Desprendimiento de retina

    OpenAIRE

    L. Jaime Claramunt, Dr.

    2010-01-01

    El desprendimiento de retina (DR) consiste en la separación entre la retina neurosensorial y el epitelio pigmentario subyacente. Su forma más frecuente es el DR regmatógeno, causado por una rotura en la retina. Se manifiesta generalmente como un defecto en el campo visual o mala visión. Si se pesquisa y trata oportunamente tiene buenas posibilidades de éxito. No obstante, sigue siendo una causa importante de mala visión y ceguera, por lo que su prevención tiene un rol fundamental.

  19. Optical coherence tomography of the preterm eye: from retinopathy of prematurity to brain development

    Science.gov (United States)

    Rothman, Adam L; Mangalesh, Shwetha; Chen, Xi; Toth, Cynthia A

    2016-01-01

    Preterm infants with retinopathy of prematurity are at increased risk of poor neurodevelopmental outcomes. Because the neurosensory retina is an extension of the central nervous system, anatomic abnormalities in the anterior visual pathway often relate to system and central nervous system health. We describe optical coherence tomography as a powerful imaging modality that has recently been adapted to the infant population and provides noninvasive, high-resolution, cross-sectional imaging of the infant eye at the bedside. Optical coherence tomography has increased understanding of normal eye development and has identified several potential biomarkers of brain abnormalities and poorer neurodevelopment. PMID:28539807

  20. Comportamiento de la consanguinidad y síndrome Usher en pacientes de la provincia Holguín

    OpenAIRE

    Santana Hernández, Elayne Esther; Tamayo Chang, Víctor Jesús; Lantigua Cruz, Paulina Araceli; Rabilero Bauza, Magalis; Argüelles González, Ivis

    2016-01-01

    Introducción: el síndrome Usher es una enfermedad genética que sigue un patrón de herencia autosómico recesivo por lo que los matrimonios consanguíneos constituyen un alto riesgo de ser portadores heterocigóticos de mutaciones. Esta enfermedad representa la segunda causa de discapacidad visual y auditiva en todas las regiones del mundo. Esta expresa una significativa heterogeneidad clínica y genética. Se caracteriza por hipoacusia neurosensorial bilateral de moderada a profunda, retinosis pig...

  1. Estrategia comunitaria de prevención primaria y diagnóstico precoz del síndrome Usher en la provincia Holguín

    OpenAIRE

    Santana Hernández, Elayne Esther; Lantigua Cruz, Paulina Araceli; Silva Velazco, Edilio; Godoy Matos, Karelia; Leyva Tamayo, Miquel; Feria Rodríguez, Maritza

    2017-01-01

    Introducción: el síndrome Usher es una enfermedad determinada genéticamente, con una gran heterogeneidad clínica y genética, está caracterizada por hipoacusia neurosensorial de moderada a severa, retinosis pigmentaria progresiva y puede acompañarse de alteraciones en la función vestibular. Por su alta prevalencia en Holguín y su significativa discapacidad visual y auditiva, se hace necesario un instrumento preventivo y de diagnóstico. Objetivos: proponer una estrategia comunitaria de prevenci...

  2. Síndrome de Usher asociado a miastenia gravis y esquizofrenia

    OpenAIRE

    Santisteban Aguilera, Francisca; Gómez Álvarez, Francisco; Freyre Luque, Rásife; Gorguet Pi, Iliana; Moreno López, Lissett

    2009-01-01

    Se presenta el caso de un paciente atendido en el Hospital Provincial “Saturnino Lora” y el Centro de Retinosis Pigmentaria de Santiago de Cuba con características audiológicas, propias de una hipoacusia neurosensorial moderada, afecciones oftalmológicas, cansancio generalizado, disfagia, ptosis palpebral bilateral asimétrica con predominio en el lado izquierdo, afectación del oblicuo, del recto interno y ausencia del reflejo nauseoso, además de ideas delirantes y alucinaciones. Las alteracio...

  3. Endodontic periapical lesion-induced mental nerve paresthesia

    Science.gov (United States)

    Shadmehr, Elham; Shekarchizade, Neda

    2015-01-01

    Paresthesia is a burning or prickling sensation or partial numbness, resulting from neural injury. The symptoms can vary from mild neurosensory dysfunction to total loss of sensation in the innervated area. Only a few cases have described apical periodontitis to be the etiological factor of impaired sensation in the area innervated by the inferior alveolar and mental nerves. The aim of the present paper is to report a case of periapical lesion-induced paresthesia in the innervation area of the mental nerve, which was successfully treated with endodontic retreatment. PMID:25878687

  4. Usher syndrome clinical characterization. Holguin province

    OpenAIRE

    Santana Hernández, Elayne Esther; Lantigua Cruz, Paulina Araceli

    2016-01-01

    Fundamento: El síndrome de Usher es una enfermedad determinada genéticamente, con una gran heterogeneidad clínica y genética; está caracterizada por hipoacusia neurosensorial de moderada a severa, retinosis pigmentaria progresiva y puede acompañarse de alteración vestibular. Por la alta prevalencia de esta enfermedad en la provincia de Holguín, se considera necesario este estudio. Objetivo: Caracterizar clínicamente todos los enfermos con diagnóstico clínico de síndrome de Usher en la provinc...

  5. Effect of high-intensity irradiation from dental photopolymerization on the isolated and superfused vertebrate retina.

    Science.gov (United States)

    Rassaei, Mohammad; Thelen, Martin; Abumuaileq, Ramzi; Hescheler, Jürgen; Lüke, Matthias; Schneider, Toni

    2013-03-01

    Light or electromagnetic radiation may damage the neurosensory retina during irradiation of photopolymerizing resinous materials. Direct and indirect effects of irradiation emitted from polymerisation curing light may represent a severe risk factor for the eyes and the skin of the lamp operators, as well as for the patient's oral mucosa. Bovine superfused retinas were used to record their light-evoked electroretinogram (ERG) as ex vivo ERGs. Both the a- and the b-waves were used as indicators for retinal damage on the functional level. The isolated retinas were routinely superfused with a standard nutrient solution under normoglycemic conditions (5 mM D-glucose). The change in the a- and b-wave amplitude and implicit time, caused by low and high intensity irradiation, was calculated and followed over time. From the results, it can be deduced that the irradiation from LED high-power lamps affects severely the normal physiological function of the bovine retina. Irradiations of 1,200 lx irreversibly damaged the physiological response. In part, this may be reversible at lower intensities, but curing without using the appropriate filter will bleach the retinal rhodopsin to a large extent within 20 to 40 s of standard application times. Constant exposure to intense ambient irradiation affects phototransduction (a-wave) as well as transretinal signalling. The proper use of the UV- and blue-light filtering device is highly recommended, and may prevent acute and long lasting damage of the neurosensory retina.

  6. ACUTE EXUDATIVE PARANEOPLASTIC POLYMORPHOUS VITELLIFORM MACULOPATHY DURING VEMURAFENIB AND PEMBROLIZUMAB TREATMENT FOR METASTATIC MELANOMA.

    Science.gov (United States)

    Sandhu, Harpal S; Kolomeyer, Anton M; Lau, Marisa K; Shields, Carol L; Schuchter, Lynn M; Nichols, Charles W; Aleman, Tomas S

    2017-06-13

    To describe a patient with BRAF mutation-positive cutaneous melanoma who developed acute exudative polymorphous vitelliform maculopathy during vemurafenib and pembrolizumab treatment for metastatic melanoma. Retrospective case report documented with wide-field fundus imaging, spectral domain optical coherence tomography, and fundus autofluorescence imaging. A 55-year-old woman with bilateral ductal breast carcinoma and BRAF mutation-positive metastatic cutaneous melanoma complained of bilateral blurred vision within 5 days of starting vemurafenib (BRAF inhibitor). She had been on pembrolizumab (program death receptor antibody) and intermittently on dabrafenib (BRAF inhibitor) and trametinib (MEK inhibitor), and had a normal ophthalmologic examination. On presentation three weeks after the introduction of vemurafenib, her visual acuity had declined to 20/40 in both eyes. Her examination showed diffuse elevation of the fovea with multifocal yellow-white, crescent-shaped subretinal deposits within the macula of both eyes and bilateral neurosensory retinal detachments by spectral domain optical coherence tomography. Discontinuation of vemurafenib and introduction of difluprednate and dorzolamide led to a gradual resolution (over four months) of the neurosensory detachments with recovery of vision. This case report suggests that acute exudative polymorphous vitelliform maculopathy may be directly associated with the use of BRAF inhibitors as treatment for metastatic cutaneous melanoma, or indirectly by triggering autoimmune-paraneoplastic processes. Future identification of similar associations is required to unequivocally link vemurafenib and/or pembrolizumab to acute exudative polymorphous vitelliform maculopathy in metastatic melanoma.

  7. [Hearing loss and idoneity--the segnalation of noise-induced hearing loss hearing Loss].

    Science.gov (United States)

    Albera, Roberto; Dagna, Federico; Cassandro, Claudia; Canale, Andrea

    2011-01-01

    Work idoneity in hearing loss must be related to working ability and evolution risks. Working ability is referred to the difficulties found in speech comprehension and in signals perception. As regards hearing loss evolution it is necessary to define if the subject is affected by conductive or neurosensorial hearing loss. In conductive hearing loss it is necessary to evaluate entity and frequential distribution of the deficit. In neurosensorial hearing loss it is necessary to distinguish between noise-induced hearing loss and extraprofessional hearing loss. In noise-induced hearing loss the evolution risk is high if the noise exposure is less than 10-15 years or the actual noise exposure is louder than the former. In case of extraprofessional hearing loss the evolution risk is higher in presbycusis, endolymphatic hydrops and toxic hearing loss. The necessity to report the presence on professionale noise-induced hearing loss arises if audiometric threshold is more than 25 dB at 0.5-1-2-3-4 kHz and if it is verified the professional origine of hearing loss.

  8. ADVANCES WITH NEONATAL AERODIGESTIVE SCIENCE IN THE PURSUIT OF SAFE SWALLOWING IN INFANTS: INVITED REVIEW

    Science.gov (United States)

    Jadcherla, Sudarshan R.

    2017-01-01

    Feeding, swallowing and airway protection are three distinct entities. Feeding involves a process of sequential, neurosensory and neuromotor interactions of reflexes and behaviors facilitating ingestion. Swallowing involves anterograde bolus movement during oral-, pharyngeal- and esophageal phases of peristalsis into stomach. During these events, coordination with airway protection is vital for homeostasis in clearing any material away from airway vicinity. Neurological-airway-digestive inter-relationships are critical to the continuum of successful feeding patterns during infancy, either in health or disease. Neonatal feeding difficulties encompass a heterogeneous group of neurological, pulmonary and aerodigestive disorders that present with multiple signs posing as clinical conundrums. Significant research breakthroughs permitted understanding of vagal neural pathways and functional aerodigestive connectivity involved in regulating swallowing and aerodigestive functions either directly or indirectly by influencing the supra-nuclear regulatory centers and peripheral effector organs. These neurosensory and neuromotor pathways are influenced by pathologies during perinatal events, prematurity, inflammatory states and coexisting medical and surgical conditions. Approaches to clarify pathophysiologic mapping of aerodigestive interactions, as well as translating these discoveries into the development of personalized and simplified feeding strategies to advance child health are discussed in this review article. PMID:28044203

  9. Multiple extrafoveal macular holes following internal limiting membrane peeling

    Directory of Open Access Journals (Sweden)

    Hussain N

    2018-05-01

    Full Text Available Nazimul Hussain, Sandip Mitra Department of Ophthalmology, Al Zahra Hospital, Sharjah, United Arab Emirates Objective: Internal limiting membrane (ILM peeling has been the standard of treatment for macular holes. Besides, causing retinal nerve fiber layer surface abnormality, postoperative extrafoveal multiple retinal holes is a rare phenomenon following ILM peeling. We report an unusual complication of eight extrafoveal macular holes occurring following ILM peeling.Case presentation: A 60-year-old male presented with complaints of decreased and distorted vision in the right eye. He was diagnosed as having epiretinal membrane with lamellar macular hole. He underwent 23G pars plana vitrectomy, brilliant blue assisted ILM peeling and fluid gas exchange. Intraoperatively, ILM was found to be adherent to the underlying neurosensory retina. One month after cataract surgery, he underwent YAG capsulotomy in the right eye. He complained of visual distortion. His fundus evaluation in the right eye showed multiple (eight extrafoveal retinal holes temporal to the macula clustered together.Conclusion: This case demonstrated that peeling of ILM, especially when it is adherent to the underlying neurosensory retina, may cause unwanted mechanical trauma to the inner retina. Glial apoptosis and neuronal degeneration may presumably play a role in delayed appearance of multiple (eight extrafoveal macular holes, which has not been reported earlier. Keywords: internal limiting membrane, lamellar macular hole, full thickness macular holes, epiretinal membrane

  10. Acúfeno unilateral: Presentación de un caso UNILATERAL ACOUSMA. A CASE REPORT

    Directory of Open Access Journals (Sweden)

    Eulalia Alfonso Muñoz

    2004-06-01

    Full Text Available El estudio detallado de los pacientes con acúfeno unilateral es de gran importancia, sobre todo cuando se trata de pacientes en la cuarta década de su vida, sin patología auditiva demostrable e hipoacusia neurosensorial asimétrica. Es indispensable en estos casos descartar el origen coclear o no del daño auditivo, y la tomografía axial computadorizada comparativa de peñascos o en su defecto, los rayos X mastoides en diferentes vistas, nos definirán si existen tumoraciones o anomalías vasculares.The thorough study of the patients with unilateral acousma is very important, mainly when patients are in the fourth decade of life, without demonstrable auditive pathology and asymmetric neurosensorial hypoacusia. It is indispensable in these cases to discard the cochlear origin or not of the auditive damage. The computerized axial tomography of the petrous portions of the temporal bone, or the mastoideal X- rays in different views, will define if there are vascular tumours or abnormalities.

  11. Síndrome de Wildervanck (Síndrome cérvico-óculo-acústica Wildervanck syndrome

    Directory of Open Access Journals (Sweden)

    João Luís Curvacho Capella

    2008-08-01

    Full Text Available O artigo relata o caso clínico de uma criança do sexo feminino, cinco anos de idade que apresenta a rara síndrome de Wilderwanck que consiste da síndrome de Klippel-Feil associada à síndrome de Duane e deficiência auditiva. O exame revelou alterações marcadas da coluna cervical, limitação bilateral da abdução, limitação da adução do olho direito associada à enoftalmia, diminuição da fenda palpebral, anisotropia em A, esotropia nas lateroversões e hipoacusia auditiva neurosensorial bilateral. Nossa paciente revelou a associação de síndrome de Klippel-Feil do tipo II com síndrome de Duane bilateral.This article reports a case of a female five years old child with rare syndrome of Wilderwanck wich consists in a association of KlippelFeil syndrome and Duane syndrome and auditive hypoacusia. Ocular examination reveals alterations of cervical column, bilateral abduction limitations, aduction limitation of right eye associated with enophthalmos, palpebral fissure decrease, anisotropia in A, lateroversions esotropia and bilateral neurosensorial auditive hypoacusia. Our patient reveal an association of Klippel-Feil Syndrome type II with bilateral Duane Syndrome.

  12. Síndrome de Usher asociado a miastenia gravis y esquizofrenia Syndrome of Usher associated to miastenia gravis and schizophrenia

    Directory of Open Access Journals (Sweden)

    Francisca Santisteban Aguilera

    2009-04-01

    Full Text Available Se presenta el caso de un paciente atendido en el Hospital Provincial “Saturnino Lora” y el Centro de Retinosis Pigmentaria de Santiago de Cuba con características audiológicas, propias de una hipoacusia neurosensorial moderada, afecciones oftalmológicas, cansancio generalizado, disfagia, ptosis palpebral bilateral asimétrica con predominio en el lado izquierdo, afectación del oblicuo, del recto interno y ausencia del reflejo nauseoso, además de ideas delirantes y alucinaciones. Las alteraciones clínicas presentes en este enfermo hacen sospechar la asociación de un síndrome de Usher, con miastenia gravis y una esquizofrenia.The case of a patient attended at "Saturnino Lora" Provincial Hospital and at the Pigmentary Retinosis Center in Santiago de Cuba with audiology characteristics, moderate neurosensorial hypoacusia, ophthalmologic affections, generalized fatigue, dysphagia, asymmetric bilateral palpebral ptosis with prevalence in the left side, affection of the oblique muscle and of the internal rectum muscle and absence of the gag reflex, besides delusion and hallucinations is presented. The clinical changes in this patient make the suspect of an association of the Usher`s syndrome, with miastenia gravis and a schizophrenia.

  13. Recent Advancements in the Regeneration of Auditory Hair Cells and Hearing Restoration

    Directory of Open Access Journals (Sweden)

    Rahul Mittal

    2017-07-01

    Full Text Available Neurosensory responses of hearing and balance are mediated by receptors in specialized neuroepithelial sensory cells. Any disruption of the biochemical and molecular pathways that facilitate these responses can result in severe deficits, including hearing loss and vestibular dysfunction. Hearing is affected by both environmental and genetic factors, with impairment of auditory function being the most common neurosensory disorder affecting 1 in 500 newborns, as well as having an impact on the majority of elderly population. Damage to auditory sensory cells is not reversible, and if sufficient damage and cell death have taken place, the resultant deficit may lead to permanent deafness. Cochlear implants are considered to be one of the most successful and consistent treatments for deaf patients, but only offer limited recovery at the expense of loss of residual hearing. Recently there has been an increased interest in the auditory research community to explore the regeneration of mammalian auditory hair cells and restoration of their function. In this review article, we examine a variety of recent therapies, including genetic, stem cell and molecular therapies as well as discussing progress being made in genome editing strategies as applied to the restoration of hearing function.

  14. The role of intraoperative positioning of the inferior alveolar nerve on postoperative paresthesia after bilateral sagittal split osteotomy of the mandible: prospective clinical study.

    Science.gov (United States)

    Hanzelka, T; Foltán, R; Pavlíková, G; Horká, E; Sedý, J

    2011-09-01

    Bilateral sagittal split osteotomy (BSSO) aims to correct congenital or acquired mandibular abnormities. Temporary or permanent neurosensory disturbance is the most frequent complication of BSSO. To evaluate the influence of IAN handling during osteotomy, the authors undertook a prospective study in 290 patients who underwent BSSO. The occurrence and duration of paresthesia was evaluated 4 weeks, 3 months, 6 months, and 1 year after surgery. Paresthesia developed immediately after surgery in almost half of the patients. Most cases of paresthesia resolved within 1 year after surgery. A significantly higher prevalence of paresthesia was observed on the left side. The authors found a correlation between the type of IAN position between the left and right side. The type of split (and IAN exposure) did not have a significant effect on the occurrence or duration of neurosensory disturbance of the IAN. The authors did not find a correlation between the occurrence and duration of paresthesia and the direction of BSSO. Mandibular hypoplasia or mandibular progenia did not represent a predisposition for the development of paresthesia. In the development of IAN paresthesia, the type of IAN exposure and the split is less important than the side on which the split is carried out. Copyright © 2011 International Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.

  15. Multiple extrafoveal macular holes following internal limiting membrane peeling.

    Science.gov (United States)

    Hussain, Nazimul; Mitra, Sandip

    2018-01-01

    Internal limiting membrane (ILM) peeling has been the standard of treatment for macular holes. Besides, causing retinal nerve fiber layer surface abnormality, postoperative extrafoveal multiple retinal holes is a rare phenomenon following ILM peeling. We report an unusual complication of eight extrafoveal macular holes occurring following ILM peeling. A 60-year-old male presented with complaints of decreased and distorted vision in the right eye. He was diagnosed as having epiretinal membrane with lamellar macular hole. He underwent 23G pars plana vitrectomy, brilliant blue assisted ILM peeling and fluid gas exchange. Intraoperatively, ILM was found to be adherent to the underlying neurosensory retina. One month after cataract surgery, he underwent YAG capsulotomy in the right eye. He complained of visual distortion. His fundus evaluation in the right eye showed multiple (eight) extrafoveal retinal holes temporal to the macula clustered together. This case demonstrated that peeling of ILM, especially when it is adherent to the underlying neurosensory retina, may cause unwanted mechanical trauma to the inner retina. Glial apoptosis and neuronal degeneration may presumably play a role in delayed appearance of multiple (eight) extrafoveal macular holes, which has not been reported earlier.

  16. Definición de Subtipos del Síndrome de Usher en Población Colombiana

    Directory of Open Access Journals (Sweden)

    Greizy López Leal

    2010-12-01

    Full Text Available

    Resumen

    Introducción. El Síndrome de Usher (USH, de herencia autosómica recesiva, se caracteriza por sordera congénita sensorial, Retinitis Pigmentosa y disfunción vestibular. Se conocen 3 tipos clínicos y 12 subtipos genéticos. En Colombia no se conocen las frecuencias de los subtipos genéticos ni las mutaciones más frecuentes.

    Objetivo. El objetivo de este trabajo fue definir el subtipo genético en 72 individuos con USH e identificar las mutaciones causantes de la enfermedad.

    Métodos. Se identificaron 72 individuos con USH de diferentes ciudades del país. Se realizó análisis de haplotipos para los 12 loci asociados a USH hasta el momento y análisis mutacional de los exones con mayor frecuencia de mutaciones reportadas en los genes USH.

    Resultados. Se logró definir el subtipo genético en 23 individuos y se identificó la mutación causal en 14. Se identifi caron dos mutaciones en el gen MYO7A, la p.R634X y la p.R1986X; y tres en el gen USH2A, la c.2299delG, la p.R334W, y la g.G129T.

    Conclusión. Se logró identificar el subtipo genético en el 31.9% y la mutación causal en el 19.4% de la población.

    Palabras clave: Síndrome de Usher, Retinitis Pigmentosa, Sordera, Hipoacusia Sensorial.

    Usher Syndrome Subtypes Definition in Colombian Population 

    Abstract

    Introduction. Usher Syndrome (USH, is an autosomal recessive disorder characterized by the association of sensorineural hearing loss, retinitis pigmentosa (RP and variable vestibular areflexia. Three clinical types and 12 genetic subtypes have been described. In Colombia, frequencies of genetic subtypes and more frequent mutations are unknown.

    Objective. The aim of this work was to defi ne the genetic subtype in Colombian population with USH.

    Methods. 72

  17. Uso de sugamadex em doença de Strumpell-Lorrain: relato de dois casos Uso de sugamadex en enfermedad de Strumpell-Lorrain: relato de dos casos Use of sugammadex in Strumpell-Lorrain disease: a report of two cases

    Directory of Open Access Journals (Sweden)

    José Antonio Franco-Hernández

    2013-02-01

    Full Text Available CONTEÚDO: A doença de Strumpell-Lorrain, ou paraparesia espástica familiar (PEF, é uma doença hereditária neurológica rara, caracterizada principalmente por graus variáveis de rigidez e enfraquecimento dos músculos, com comprometimento cognitivo, surdez e ataxia nos casos mais graves. Descrevemos os casos de duas irmãs com PEF, agendadas para colecistectomia e colectomia subtotal, respectivamente. Também descrevemos o manejo anestésico em ambos os casos e revisamos a literatura sobre essa doença em relação à anestesia.CONTENIDO: La enfermedad de Strumpell-Lorrain, o paraparesia espástica familiar (PEF, es una enfermedad hereditaria neurológica rara, caracterizada principalmente por grados variables de rigidez y debilitamiento de los músculos, con el compromiso cognitivo, la sordera y la ataxia en los casos más graves. Describimos aquí dos casos de dos hermanas con PEF, citadas para colecistectomía y colectomía subtotal respectivamente. Describimos también el manejo anestésico en ambos casos y revisamos la literatura sobre esa enfermedad con relación a la anestesia.CONTENT: Strumpell-Lorrain disease - or familial spastic paraplegia (FSP - is a rare hereditary neurological disorder, mainly characterized by variable degrees of stiffness and weakening of the muscles, with cognitive impairment, deafness, and ataxia in the more severe cases. We describe two female siblings with FSP programmed for cholecystectomy and subtotal colectomy, respectively, and also how we dealt with the anesthetic management in both cases and review the literature on this disease in relation to anesthesia.

  18. Hearing aids and services for developing countries

    Directory of Open Access Journals (Sweden)

    2001-08-01

    Full Text Available De los 250 millones de personas que, según estimaciones, tienen pérdida de la audición y podrían beneficiarse del uso de un audífono, dos terceras partes viven en países en desarrollo. No obstante esta necesidad perentoria, de los audífonos que se fabrican en el mundo, solamente alrededor de uno de cada ocho termina siendo enviado a un país en desarrollo. Y de los audífonos que sí van a parar a países del tercer mundo, la mayoría son demasiado caros para el consumidor ordinario, ya que su costo varía de US$ 200 a más de US$ 500. Por añadidura, los países en desarrollo tienen gran escasez de servicios para la colocación adecuada de estos dispositivos y muy pocas personas adiestradas en cómo hacerlo. En vista de la situación, la Organización Mundial de la Salud acaba de emitir directrices para países en desarrollo sobre el uso de audífonos y aparatos afines. Estas nuevas directrices detallan los requisitos para la fabricación de audífonos baratos y de buena calidad y para la provisión de servicios en esos países. La intención es que estos requisitos ayuden a las fabricantes a hacer audífonos a precios bajos y en grandes cantidades con las tecnologías que hay actualmente, procurando reducir su precio a US$ 10 ó US$ 20 por aparato. Los niños con sordera moderada o grave en el oído menos afectado deben recibir atención prioritaria, según las nuevas directrices.

  19. LENGUAJE Y EDUCACIÓN EN NIÑOS SORDOS: ENCUENTROS Y DESENCUENTROS

    Directory of Open Access Journals (Sweden)

    Carolina Becerra Sepúlveda

    2008-01-01

    Full Text Available La problemática de la sordera y desarrollo lingüístico constituye un tema preocupante para la Educación Especial. Se reconoce que en la actualidad la educación del niño sordo es precaria. Tanto a nivel Nacional como Internacional se conoce poco acerca del tema y no existe amplio consenso respecto de los métodos de enseñanza más idóneos. Diversos estudios (Stokoe, 1960; Liddell & Johnson, 1989; Wilcox, 2000 han demostrado que la Lengua de Señas es uno de los medios de comunicación utilizados por las personas sordas y ha sido catalogada como un lenguaje equiparable al oral. Sin embargo, esta idea ha sido foco de controversias que no favorecen el consenso e incorporación sistemática de algún método de enseñanza basado en una adecuada valoración de esta lengua. Considerando los postulados provenientes de esta discusión, cabe preguntarse cuál es el rol de la Lengua de Señas como herramienta de acceso a la Educación de niños sordos. El presente documento tiene por objeto presentar un somero análisis crítico de las distintas metodologías de estudio del lenguaje de señas y sus implicancias en la Educación Especial.

  20. EDUCANDO LA SEXUALIDAD DE LAS PERSONAS SORDAS

    Directory of Open Access Journals (Sweden)

    Jixy Martínez Galiano

    2014-06-01

    Full Text Available La presente investigación responde a la necesidad de continuar trabajando en función de educar la sexualidad de la población en general, y en especial, de las personas que presentan algún tipo de necesidad educativa especial, y fundamentalmente, a los que la presencia de factores discapacitantes le impiden recibir la información con una claridad que les permita ser responsables ante sus actos en todos los sentidos de la vida. La existencia de personas con sordera es un motivo importante para que especialistas de diversas ramas profundicen en las vías más efectivas para llevarles la información más acabada acerca de la educación de la sexualidad, por lo que se proponen una serie de talleres relacionados con diversos elementos que permitan una mejor comprensión de las principales problemáticas que están relacionadas con la posible adquisición de enfermedades que pueden ser evitadas a partir de su conocimiento y de las mejores maneras de prácticas de sexo seguro que promueva felicidad y responsabilidad. La valoración de los talleres en lengua de señas cubanas posibilitó comprobar que las temáticas propuestas son efectivas y los resultados alcanzados demuestran las posibilidades de esta población de apropiarse adecuadamente de las formas más adecuadas de comportarse en la vida sexual.

  1. Amyotrophic lateral sclerosis positive for mutation in the CYTB gene and negative for SOD1 and ATXN2

    Directory of Open Access Journals (Sweden)

    Iván Cervantes-Aragón

    2017-04-01

    Full Text Available Señor editor, se examinó a una mujer de 28 años, originaria de Miahuatlán de Porfirio Díaz Oaxaca, México, remitida para descartar esclerosis lateral amiotrófica (ELA y miopatía mitocondrial por la unidad de rehabilitación básica. La paciente presentaba disfagia, debilidad muscular, calambres, fatiga e intolerancia al ejercicio, síntomas progresivos desde hace 2 años. Los familiares que la acompañaban refirieron que en ocasiones presentaba llanto sin causa alguna, así como odinofagia al pasar líquidos y comida sólida desde los 13 años, lo que había progresado a disfagia. A la paciente se le detectó sordera sensorial derecha a los tres años de edad y diabetes mellitus un año atrás, la cual se manejó con metformina 500mg cada 8 horas. No se le documentó historia de crisis convulsiva o actividad epiléptica hasta la fecha. A la exploración física no se encontró oftalmoplejía externa ni ptosis palpebral, pero sí hiperreflexia de miembros pélvicos y atrofia de los músculos de miembros torácicos muy marcada en las eminencias tenar e hipotenar. En la tomografía de cráneo contrastada no se encontraron infartos fantasmas, conocidos como stroke-like, pero la resonancia magnética simple de la columna vertebral mostró atrofia de las astas anteriores. En la historia familiar no se encontró ningún otro miembro afectado.

  2. Introducing complementary foods in the first year of life

    Directory of Open Access Journals (Sweden)

    Francesco Tandoi

    2017-12-01

    Full Text Available Introduction of solid foods is a fundamental step in the development of an individual. There are many implications that weaning contains not only on a nutritional plan, but also on the contingent and long-term health of an individual. Over time this nutritional passage has evolved through the acquisition of new knowledge about maturation of anatomical and neurosensory structures involved in all the phases of such a complex process. The understanding of a maturing taste of infant and cultural changes is another key to understand the evolution of introduction of solid foods in infants. What is contained in this text encapsulates thus the evolutionary path of weaning in recent years, showing current trends in the light of cultural changes and new scientific acquisitions.

  3. [The role of lactate acidosis in the development and treatment of various neurologic syndromes in children and adolescents].

    Science.gov (United States)

    Arveladze, G A; Geladze, N M; Sanikidze, T B; Khachapuridze, N S; Bakhtadze, S Z

    2015-02-01

    The aim of the study was to detect the role of lactate acidosis, also to find the share of mitochondrial insufficiency in development of various neurologic syndromes in children and adolescents. The detection of cellular energetic metabolism and acid based imbalance is also important for finding the specific method of management. We have studied 200 patients with various degree of neurodevelopment delay with epilepsy and epileptic syndromes, headache, vertigo, early strokes, floppy infant syndrome, atrophy of ophthalmic nerve, cataracta, neurosensory deafness, systemic myopathy, cerebral palsy. In 27% of cases with various ages we have detected lactate acidosis and increase level of pyruvate. Mitochondrial insufficiency was seen in 8% of cases which gives us opportunity to find the specific method of treatment in this group of patients. Each patient with neurological symptoms requires correction of parameters of energetic and oxidative metabolism.

  4. Síndrome de Waardenburg. Variabilidad en una familia en Sandino, Pinar del Río, Cuba Waardenburg syndrome: variability in a Sandino family

    Directory of Open Access Journals (Sweden)

    Fidel Castro Pérez

    2011-06-01

    Full Text Available El síndrome de Waardenburg es una enfermedad infrecuente, autosómica y dominante que cursa con cierto grado de discapacidad cuando aparece la hipoacusia neurosensorial, sin embargo, se ha detectado en Sandino, Pinar del Río, Cuba, una familia con 26 individuos vivos portadores del síndrome. Se describe por primera vez el estudio general de la familia desde el primer portador, y se demuestra la variabilidad individual en los portadores.Waardenburg Syndrome (WS is a non-frequent autosomal dominant disease, showing a certain degree of disability when neurosensitive hypoacusia appears; however, in Sandino, Pinar de Río, Cuba a family, from whom 26 alive relatives show WS. The general study of this family from the first ill relative, and the individual variability is showed.

  5. Anatomical Position of Mental foramen: a Review

    Directory of Open Access Journals (Sweden)

    Vinit Aher

    2012-01-01

    Full Text Available Mental foramen is a key factor in many of the surgical as well as clinical procedures in routine clinical practice. The variations of mental foramen with respect to position, size and number dose significantly alter the clinical implications of various intraoral treatments. The accurate knowledge of the mental nerve and its position helps the clinician for delivering local anesthesia effectively also placement of implants and dentures intraorally to replace missing teeth is important in prosthetic point of view. While doing the surgical procedures in this region the position of mental nerve and its foramen is of importance to avoid intraoperative neurovascular damage and to avoid postoperative neurosensory disturbances. The ethnic and racial variations are seen in the position of mental foramen, although a gender variation in same population has not been seen. Thus the knowledge of the position of mental nerve is important for day to day clinical practice of dentistry.

  6. [Novel current and future therapy options for treatment of dry eye disease].

    Science.gov (United States)

    Messmer, E M

    2018-02-01

    Dry eye disease was redefined by the dry eye workshop (DEWS II) in May 2017. According to the new definition "dry eye is a multifactorial disease of the ocular surface characterized by a loss of homeostasis of the tear film and accompanied by ocular symptoms". The current definition encompasses etiological factors, such as instability and hyperosmolarity of the tear film, ocular surface inflammation and damage as well as a new aspect compared to the former definition, neurosensory abnormalities. Recent and future therapeutic options for dry eye focus on treatment of the aforementioned pathogenetic events. New tear substitutes, medications and devices to stimulate tear production, innovative anti-inflammatory treatment, medications to influence corneal innervation and new methods for treatment of Meibomian gland dysfunction are already available or will be available in the near future.

  7. Molecular studies of a novel mutation in MYO7A gene in Usher Syndrome type I

    OpenAIRE

    Jorge, André Filipe Santos

    2016-01-01

    Trabalho de revisão do 6º ano médico com vista à atribuição do grau de mestre (área científica de genética) no âmbito do ciclo de estudos de Mestrado Integrado em Medicina. Introdução: O Síndrome de Usher (USH) é uma doença autossómica recessiva caracterizada por um quadro de défice auditivo neurosensorial e retinite pigmentar, associado ou não a disfunção vestibular. USH é dividido em três tipos, sendo o USH tipo I o mais grave, caraterizado por surdez grave a profunda bilateral congénita...

  8. Frecuencia de mutaciones en el gen de la usherina (USH2A) en 26 individuos colombianos con síndrome de Usher, tipo II

    OpenAIRE

    López, Greizy; Gelvez, Nancy Yaneth; Tamayo, Martalucía

    2011-01-01

    Introducción. El síndrome de Usher se caracteriza por hipoacusia neurosensorial congénita, retinitis pigmentaria y disfunción vestibular. Es la causa más frecuente de sordo-ceguera en el mundo. Se divide en tres tipos clínicos y doce subtipos genéticos. El tipo II es la forma más común y cerca de 80 % de los casos corresponden al subtipo 2 del síndrome de Usher. Objetivo. Establecer la frecuencia de mutaciones en la isoforma corta del gen USH2A en individuos colombianos con síndrome de Usher,...

  9. Frecuencia de mutaciones en el gen de la usherina (USH2A) en 26 individuos colombianos con síndrome de Usher, tipo II

    OpenAIRE

    Greizy López; Nancy Yaneth Gelvez; Martalucía Tamayo

    2011-01-01

    Introducción. El síndrome de Usher se caracteriza por hipoacusia neurosensorial congénita, retinitis pigmentaria y disfunción vestibular. Es la causa más frecuente de sordo-ceguera en el mundo. Se divide en tres tipos clínicos y doce subtipos genéticos. El tipo II es la forma más común y cerca de 80 % de los casos corresponden al subtipo 2 del síndrome de Usher. Objetivo. Establecer la frecuencia de mutaciones en la isoforma corta del gen USH2A en individuos colombianos con síndrome de Ush...

  10. Caracterización molecular de pacientes con síndrome de usher mediante secuenciación Sanger de nueva generación : análisis de expresión de variantes USH1

    OpenAIRE

    Aparisi Navarro, María José

    2015-01-01

    El síndrome de Usher (USH) es una enfermedad hereditaria autosómica recesiva, caracterizada por la asociación de hipoacusia neurosensorial, retinosis pigmentaria (RP), y en algunas ocasiones, disfunción vestibular. Se considera la forma más común de sordo-ceguera de origen genético, siendo responsable de más del 50% de los individuos sordo-ciegos. Su rango de prevalencia varía entre 3,2-6,2/100000 nacidos vivos. En base a la edad de inicio, gravedad y progresión de los síntomas, el USH pue...

  11. Cough in idiopathic pulmonary fibrosis

    Directory of Open Access Journals (Sweden)

    Mirjam J.G. van Manen

    2016-09-01

    Full Text Available Many patients with idiopathic pulmonary fibrosis (IPF complain of chronic refractory cough. Chronic cough is a distressing and disabling symptom with a major impact on quality of life. During recent years, progress has been made in gaining insight into the pathogenesis of cough in IPF, which is most probably “multifactorial” and influenced by mechanical, biochemical and neurosensory changes, with an important role for comorbidities as well. Clinical trials of cough treatment in IPF are emerging, and cough is increasingly included as a secondary end-point in trials assessing new compounds for IPF. It is important that such studies include adequate end-points to assess cough both objectively and subjectively. This article summarises the latest insights into chronic cough in IPF. It describes the different theories regarding the pathophysiology of cough, reviews the different methods to assess cough and deals with recent and future developments in the treatment of cough in IPF.

  12. Comparative clinical study of the effect of LLLT in the immediate and late treatments of hypoesthesia due to surgical procedures

    Science.gov (United States)

    Ladalardo, Thereza C.; Brugnera, Aldo, Jr.; Pinheiro, Antonio L. B.; Castanho Garrini, Ana E.; Bologna, Elisangela D.; Takamoto, Marcia; Siqueira, Jose T.; Dias, Pedro; Campos, Roberto A. d. C.

    2002-06-01

    We evaluated the effect of LLLT in 68 patients who presented hypoesthesia due to odontological surgery procedures: dental implant surgeries (N=51); extraction of impacted lower third molars (N=10); endodontics in lower first molars (N=7). Lesions treated within 30 days after the nerve injury had occurred were part of the immediate group, and lesions with more than 30 days from the occurrence of the injury were part of the late group. Treatments were carried out with an infrared diode laser of 40 mW-830nm, continuous wave emission, spot size 3 mm2, and a total dosage of 18 joules per session in a contact mode of application, 20 sessions altogether. The efficacy of laser therapy in peripheral nerve regeneration is also related to the degree of the peripheral nerve lesion, and not only to the lesion duration. LLLT resulted in neurosensory functional improvement in both immediate and late treatments of hypoesthesia.

  13. Converging clinical and engineering research on neurorehabilitation

    CERN Document Server

    Torricelli, Diego; Pajaro, Marta

    2013-01-01

    Restoring human motor and cognitive function has been a fascinating research area during the last century. Interfacing the human nervous system with electro-mechanical rehabilitation machines is facing its crucial passage from research to clinical practice, enhancing the potentiality of therapists, clinicians and researchers to rehabilitate, diagnose and generate knowledge. The 2012 International Conference on Neurorehabilitation (ICNR2012, www.icnr2012.org) brings together researchers and students from the fields of Clinical Rehabilitation, Applied Neurophysiology and Biomedical Engineering, covering a wide range of research topics:   · Clinical Impact of Technology · Brain-Computer Interface in Rehabilitation · Neuromotor & Neurosensory modeling and processing · Biomechanics in Rehabilitation · Neural Prostheses in Rehabilitation · Neuro-Robotics in Rehabilitation · Neuromodulation   This Proceedings book includes general contributions from oral and poster sessions, as well as from special sess...

  14. Fundus Autofluorescence in Multiple Evanescent White Dot Syndrome

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    Fernando Marcondes Penha

    2011-01-01

    Full Text Available A patient complained of photopsia and vision loss in the left eye for two days, with visual acuity of 20/32. Right eye was normal. Funduscopy revealed foveal granularity and gray-white lesions in the posterior pole, mainly temporal to the fovea. The lesions (dots and spots, along with a few other areas surrounding them, showed hyperautofluorescence on autofluorescence imaging. Fluorescein angiogram (FA depicted some early hyperfluorescent dots with late staining. Indocyanine green angiogram (ICGA showed hypofluorescent lesions in a greater number compared with funduscopy, autofluorescence, and FA. Thirty days later, BCVA was 20/20 in both eyes and the complimentary exams were almost normal, despite an ICGA that showed few small hypofluorescent lesions. This case supports the hypothesis that the choroidal involvement occurs primarily in MEWDS, with secondary involvement of the RPE and the neurosensory retina.

  15. Fundus autofluorescence imaging in dry AMD: 2014 Jules Gonin lecture of the Retina Research Foundation.

    Science.gov (United States)

    Holz, Frank G; Steinberg, Julia S; Göbel, Arno; Fleckenstein, Monika; Schmitz-Valckenberg, Steffen

    2015-01-01

    Fundus autofluorescence (FAF) imaging allows for topographic mapping of intrisnic fluorophores in the retinal pigment epithelial cell monolayer, as well as mapping of other fluorophores that may occur with disease in the outer retina and the sub-neurosensory space. FAF imaging provides information not obtainable with other imaging modalities. Near-infrared fundus autofluorescence images can also be obtained in vivo, and may be largely melanin-derived. FAF imaging has been shown to be useful in a wide spectrum of macular and retinal diseases. The scope of applications now includes identification of diseased RPE in macular/retinal diseases, elucidating pathophysiological mechanisms, identification of early disease stages, refined phenotyping, identification of prognostic markers for disease progression, monitoring disease progression in the context of both natural history and interventional therapeutic studies, and objective assessment of luteal pigment distribution and density as well as RPE melanin distribution. Here, we review the use of FAF imaging in various phenotypic manifestations of dry AMD.

  16. Tattoo complaints and complications

    DEFF Research Database (Denmark)

    Serup, Jørgen; Carlsen, Katrina Hutton; Sepehri, Mitra

    2015-01-01

    Tattoos cause a broad range of clinical problems. Mild complaints, especially sensitivity to sun, are very common and seen in 1/5 of cases. Medical complications are dominated by allergy to tattoo pigment haptens or haptens generated in the skin, especially in red tattoos but also in blue and green...... tattoos. Symptoms are major and can be compared to cumbersome pruritic skin diseases. Tattoo allergies and local reactions show distinct clinical manifestations, with plaque-like, excessive hyperkeratotic, ulcero-necrotic, lymphopathic, neuro-sensory, and scar patterns. Reactions in black tattoos......) transferred by tattooing remain a significant risk needing active prevention. It is noteworthy that cancer arising in tattoos, in regional lymph nodes, and in other organs due to tattoo pigments and ingredients has not been detected or noted as a significant clinical problem hitherto, despite millions...

  17. Kernicterus by glucose-6-phosphate dehydrogenase deficiency: a case report and review of the literature

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    Cossio de Gurrola Gladys

    2008-05-01

    Full Text Available Abstract Introduction Glucose-6-phosphate dehydrogenase deficiency is an X-linked recessive disease that causes acute or chronic hemolytic anemia and potentially leads to severe jaundice in response to oxidative agents. This deficiency is the most common human innate error of metabolism, affecting more than 400 million people worldwide. Case presentation Here, we present the first documented case of kernicterus in Panama, in a glucose-6-phosphate dehydrogenase-deficient newborn clothed in naphthalene-impregnated garments, resulting in reduced psychomotor development, neurosensory hypoacousia, absence of speech and poor reflex of the pupil to light. Conclusion Mutational analysis revealed the glucose-6-phosphate dehydrogenase Mediterranean polymorphic variant, which explained the development of kernicterus after exposition of naphthalene. As the use of naphthalene in stored clothes is a common practice, glucose-6-phosphate dehydrogenase testing in neonatal screening could prevent severe clinical consequences.

  18. Spiral Form of the Human Cochlea Results from Spatial Constraints.

    Science.gov (United States)

    Pietsch, M; Aguirre Dávila, L; Erfurt, P; Avci, E; Lenarz, T; Kral, A

    2017-08-08

    The human inner ear has an intricate spiral shape often compared to shells of mollusks, particularly to the nautilus shell. It has inspired many functional hearing theories. The reasons for this complex geometry remain unresolved. We digitized 138 human cochleae at microscopic resolution and observed an astonishing interindividual variability in the shape. A 3D analytical cochlear model was developed that fits the analyzed data with high precision. The cochlear geometry neither matched a proposed function, namely sound focusing similar to a whispering gallery, nor did it have the form of a nautilus. Instead, the innate cochlear blueprint and its actual ontogenetic variants were determined by spatial constraints and resulted from an efficient packing of the cochlear duct within the petrous bone. The analytical model predicts well the individual 3D cochlear geometry from few clinical measures and represents a clinical tool for an individualized approach to neurosensory restoration with cochlear implants.

  19. Intravitreal bevacizumab in pigmented rabbit eyes: histological analysis 90 days after injection Bevacizumabe intravítreo em olhos de coelhos não albinos: análise histológica 90 dias após a injeção

    Directory of Open Access Journals (Sweden)

    João Carlos Diniz Arraes

    2009-10-01

    Full Text Available PURPOSE: To evaluate bevacizumab toxicity in neurosensorial retina and retinal pigment epithelium in pigmented rabbit eyes by means of histological studies. METHODS: Thirty eyes of fifteen rabbits were distributed into three groups: sham group (S, that received a 0.1 ml balanced saline solution (BSS intravitreal injection (10 eyes; group 1, that received a 1.25 mg (0.1 ml bevacizumab intravitreal injection (10 eyes; and group 2, that received a 2.5 mg (0.1 ml bevacizumab intravitreal injection (10 eyes. Rabbits were sacrificed 90 days after the procedure and both eyes of each rabbit were enucleated. A histological examination of neurosensorial retina and retinal pigmented epithelium (RPE was performed. Its morphological features and layer thickness were also analyzed. RESULTS: No histological differences in neurosensorial retina or in retinal pigmented epithelium were found and layer thickness did not differ significantly between balanced saline solution-injected eyes and bevacizumab-injected eyes. CONCLUSION: After a 90-day follow-up period, a single 1.25 or 2.5 mg bevacizumab intravitreal injection did not lead to toxic damage in the neurosensorial retina and retinal pigment epithelium of pigmented rabbit eyes, and it appears to be a safe procedure for retinal neovascular diseases.OBJETIVOS: Avaliar a toxicidade do bevacizumabe na retina neurossensorial e epitélio pigmentado da retina (EPR em olhos de coelhos não albinos pelos estudos histológicos. MÉTODOS: Trinta olhos de 15 coelhos foram distribuídos em três grupos: 10 olhos no grupo placebo (P, que recebeu uma injeção intravítrea de 0,1 ml de solução salina balanceada (SSB; 10 olhos no grupo 1, que recebeu uma injeção intravítrea de 1,25 mg (0,1 ml de bevacizumabe; e 10 olhos no grupo 2, que recebeu uma injeção intravítrea de 2,5 mg (0,1 ml de bevacizumabe. Os coelhos tiveram seus dois olhos enucleados sob anestesia geral e submetidos à eutanásia 90 dias após a inje

  20. Pleomorphic adenoma of the accessory parotid gland: case report and reappraisal of intraoral extracapsular dissection for management.

    Science.gov (United States)

    Tsegga, Tibebu M; Britt, Jennifer D; Ellwanger, Aragon R

    2015-03-01

    Pleomorphic adenoma is the most common tumor of the major and minor salivary glands. Rarely is it found evolving from an ectopic location of major salivary glandular tissue in the mid cheek. A healthy 56-year-old woman presented to our institution with a 20-year duration of a slowly growing right cheek soft tissue mass that was causing facial asymmetry. No significant functional or neurosensory dysfunction was appreciated. Radiologic examination showed a heterogeneous, hyperintense, well-delineated mass within the region of the right buccal fat pad. Fine-needle aspiration biopsy showed benign salivary gland elements consistent with pleomorphic adenoma. The decision was made to perform intraoral extracapsular dissection for removal. Discussion of the clinical assessment and magnetic resonance imaging evaluation with an emphasis on intraoral extracapsular dissection for definitive surgical therapy of longstanding benign salivary gland tumors is emphasized. Published by Elsevier Inc.

  1. A Case of Wolfram Syndrome

    Directory of Open Access Journals (Sweden)

    Gholamali Naderian

    2010-01-01

    Full Text Available Purpose: To report a case of Wolfram syndrome characterized by early onset diabetes mellitus and progressive optic atrophy. Case Report: A 20-year-old male patient with diabetes mellitus type I presented with best corrected visual acuity of 1/10 in both eyes with correction of -0.25+1.50@55 and -0.25+1.50@131 in his right and left eyes, respectively. Bilateral optic atrophy was evident on fundus examination. The patient also had diabetes insipidus, neurosensory deafness, neurogenic bladder, polyuria and extra-residual voiding indicating atony of the urinary tract, combined with delayed sexual maturity. Conclusion: One should consider Wolfram syndrome in patients with juvenile onset diabetes mellitus and hearing loss. Ophthalmological examination may disclose optic atrophy; urologic examinations are vital in such patients.

  2. Síndrome de Usher de tipo II: caracterización oftalmológica, auditiva y genética de una familia consanguínea

    OpenAIRE

    Freyre Luque, Rásife; García Espinosa, Sarah María; García Mayet, Idalmis; Santisteban Aguilera, Francisca; Dager Salomón, Melek

    2011-01-01

    Se caracterizó a una familia consanguínea de 25 miembros, 3 de los cuales padecían el síndrome de Usher de tipo II, a través del estudio auditivo, oftalmológico y genético en el Centro de Retinosis Pigmentaria de Santiago de Cuba. Los pacientes (2 varones y 1 fémina) tenían en común: aparición de la enfermedad en la etapa juvenil, mala visión nocturna, campos visuales reducidos, hipoacusia neurosensorial y resultados normales en las pruebas vestibulares; asimismo, en genética molecular, la el...

  3. Serous Macular Detachments

    Directory of Open Access Journals (Sweden)

    Hakan Özdemir

    2012-03-01

    Full Text Available Serous macular detachment has only recently been recognized to occur in a significant number of eyes with macular pathology including diabetic retinopathy, retinal vein occlusion, Behçet disease, Irvine-Gass syndrome and pars planitis. These serous retinal detachments associated with retinal vascular leakage are not suspected clinically or angiographically but can be diagnosed with optical coherence tomography (OCT beneath the edematous neurosensory retina. The detection of shallow foveal detachment may be helpful in better understanding the pathogenesis of these disorders. In addition, the detection of serous macular detachment may also help to better guide and assess the results of therapy in the future. (Turk J Oph thal mol 2012; 42: 146-9

  4. Implied motion because of instability in Hokusai Manga activates the human motion-sensitive extrastriate visual cortex: an fMRI study of the impact of visual art.

    Science.gov (United States)

    Osaka, Naoyuki; Matsuyoshi, Daisuke; Ikeda, Takashi; Osaka, Mariko

    2010-03-10

    The recent development of cognitive neuroscience has invited inference about the neurosensory events underlying the experience of visual arts involving implied motion. We report functional magnetic resonance imaging study demonstrating activation of the human extrastriate motion-sensitive cortex by static images showing implied motion because of instability. We used static line-drawing cartoons of humans by Hokusai Katsushika (called 'Hokusai Manga'), an outstanding Japanese cartoonist as well as famous Ukiyoe artist. We found 'Hokusai Manga' with implied motion by depicting human bodies that are engaged in challenging tonic posture significantly activated the motion-sensitive visual cortex including MT+ in the human extrastriate cortex, while an illustration that does not imply motion, for either humans or objects, did not activate these areas under the same tasks. We conclude that motion-sensitive extrastriate cortex would be a critical region for perception of implied motion in instability.

  5. Nutrition and human physiological adaptations to space flight

    Science.gov (United States)

    Lane, H. W.; LeBlanc, A. D.; Putcha, L.; Whitson, P. A.

    1993-01-01

    Space flight provides a model for the study of healthy individuals undergoing unique stresses. This review focuses on how physiological adaptations to weightlessness may affect nutrient and food requirements in space. These adaptations include reductions in body water and plasma volume, which affect the renal and cardiovascular systems and thereby fluid and electrolyte requirements. Changes in muscle mass and function may affect requirements for energy, protein and amino acids. Changes in bone mass lead to increased urinary calcium concentrations, which may increase the risk of forming renal stones. Space motion sickness may influence putative changes in gastro-intestinal-hepatic function; neurosensory alterations may affect smell and taste. Some or all of these effects may be ameliorated through the use of specially designed dietary countermeasures.

  6. Usher proteins in inner ear structure and function.

    Science.gov (United States)

    Ahmed, Zubair M; Frolenkov, Gregory I; Riazuddin, Saima

    2013-11-01

    Usher syndrome (USH) is a neurosensory disorder affecting both hearing and vision in humans. Linkage studies of families of USH patients, studies in animals, and characterization of purified proteins have provided insight into the molecular mechanisms of hearing. To date, 11 USH proteins have been identified, and evidence suggests that all of them are crucial for the function of the mechanosensory cells of the inner ear, the hair cells. Most USH proteins are localized to the stereocilia of the hair cells, where mechano-electrical transduction (MET) of sound-induced vibrations occurs. Therefore, elucidation of the functions of USH proteins in the stereocilia is a prerequisite to understanding the exact mechanisms of MET.

  7. Hypacusis and Tinnitus Associated to Otosyphilis

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    Oliveira, Neide Fátima Cordeiro Diniz

    2009-12-01

    Full Text Available Introduction: Both congenital and acquired syphilis may cause cochleovestibular dysfunction. In the literature, the neurosensorial hearing loss, tinnitus and unbalance have been described in the secondary and tertiary syphilis. Objective: The objective of this work was to emphasize the need for etiologic identification for treatment and control of individuals with cochleovestibular symptoms. Case Report: We described the case of a patient, aged 64 years, black, with complaints of slow and progressive diminishing of auditory accuracy since about 12 years ago, associated with tinnitus and occasional unbalances. In the laboratorial and audiometric evaluation, after exclusion of other related causes, we came to the additional diagnosis of otosyphilis. Final Comments: Syphilis must always be taken into account in patients with cochleovestibular complications, irrespectively of the age range, whether or not belonging to risk groups, and the number of partners of each patient. The etiological diagnosis is very important for the control and treatment of such patients.

  8. Thiamine– Responsive Megaloblastic Anemia Syndrome

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    F Motavaselian

    2009-01-01

    Full Text Available Thiamine Responsive megaloblastic anemia in DIDMOA (Wolfram syndrome has an autosomal- recessive mode of inheritance . Megaloblastic anemia and sideroblastic anemia is accompanied by diabetes insipidus (DI, diabetes mellitus (DM ,optic atrophy (OA and deafness (D. Neutropenia and thrombocytopenia are also present. We report a 7 month old girl with congenital macrocytic anemia; a rare clinical feature of Wolfram,s syndrome with increased plasma levels of blood glucose, both of which dramatically responded to administration of thiamine in large doses . The patient also had neurosensorial deafness, but no improvement was observed in the deafness. We presented the case because thiamine-responsive megaloblastic anemia is a rare clinical presentation of Wolfram syndrome and after institution of treatment with thiamine, the anemia and hyperglycemia returned to normal.

  9. Mortality related to neonatal and pediatric fungal infections

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    Paolo Manzoni

    2013-07-01

    Full Text Available Thanks to the recent advances in the treatment of neonatal fungal infections, the burden of mortality has been decreasing. However a widely accepted definition is yet to be found, since different thresholds of survival are used in the published trials, and therefore mortality is assumed as occurring 7, 20, 30, or 90 days after treatment, according to the different studies. Regardless of the uncertainty of the definitions, it is more important to know if the patient died with the fungal infection or because of the fungal infection. The new antifungal drugs currently available for neonatal patients were able to increase the survival rates: the attention should, therefore, be focused on the long-term seque­lae, which, on the contrary, still affect a big amount of patients. In particular, neurobehavioral and neurosensorial disorders become often evident with age.http://dx.doi.org/10.7175/rhc.v14i1S.857 

  10. Tumor histology and location predict deep nuclei toxicity: Implications for late effects from focal brain irradiation.

    Science.gov (United States)

    Plaga, Alexis; Shields, Lisa B E; Sun, David A; Vitaz, Todd W; Spalding, Aaron C

    2012-01-01

    Normal tissue toxicity resulting from both disease and treatment is an adverse side effect in the management of patients with central nervous system malignancies. We tested the hypothesis that despite these improvements, certain tumors place patients at risk for neurocognitive, neuroendocrine, and neurosensory late effects. Defining patient groups at risk for these effects could allow for development of preventive strategies. Fifty patients with primary brain tumors underwent radiation planning with magnetic resonance imaging scan and computed tomography datasets. Organs at risk (OAR) responsible for neurocognitive, neuroendocrine, and neurosensory function were defined. Inverse-planned intensity-modulated radiation therapy was optimized with priority given to target coverage while penalties were assigned to exceeding normal tissue tolerances. Tumor laterality, location, and histology were compared with OAR doses, and analysis of variance was performed to determine the significance of any observed correlation. The ipsilateral hippocampus exceeded dose limits in frontal (74%), temporal (94%), and parietal (100%) lobe tumor locations. The contralateral hippocampus was at risk in the following tumor locations: frontal (53%), temporal (83%), or parietal (50%) lobe. Patients with high-grade glioma were at risk for ipsilateral (88%) and contralateral (73%) hippocampal damage (P <0.05 compared with other histologies). The pituitary gland and hypothalamus exceeded dose tolerances in patients with pituitary tumors (both 100%) and high-grade gliomas (50% and 75%, P <0.05 compared with other histologies), respectively. Despite application of modern radiation therapy, certain tumor locations and histologies continue to place patients at risk for morbidity. Patients with high-grade gliomas or tumors located in the frontal, temporal, or parietal lobes are at risk for neurocognitive decline, likely because of larger target volumes and higher radiation doses. Data from this study

  11. Diagnostic Accuracy of the Slump Test for Identifying Neuropathic Pain in the Lower Limb.

    Science.gov (United States)

    Urban, Lawrence M; MacNeil, Brian J

    2015-08-01

    Diagnostic accuracy study with nonconsecutive enrollment. To assess the diagnostic accuracy of the slump test for neuropathic pain (NeP) in those with low to moderate levels of chronic low back pain (LBP), and to determine whether accuracy of the slump test improves by adding anatomical or qualitative pain descriptors. Neuropathic pain has been linked with poor outcomes, likely due to inadequate diagnosis, which precludes treatment specific for NeP. Current diagnostic approaches are time consuming or lack accuracy. A convenience sample of 21 individuals with LBP, with or without radiating leg pain, was recruited. A standardized neurosensory examination was used to determine the reference diagnosis for NeP. Afterward, the slump test was administered to all participants. Reports of pain location and quality produced during the slump test were recorded. The neurosensory examination designated 11 of the 21 participants with LBP/sciatica as having NeP. The slump test displayed high sensitivity (0.91), moderate specificity (0.70), a positive likelihood ratio of 3.03, and a negative likelihood ratio of 0.13. Adding the criterion of pain below the knee significantly increased specificity to 1.00 (positive likelihood ratio = 11.9). Pain-quality descriptors did not improve diagnostic accuracy. The slump test was highly sensitive in identifying NeP within the study sample. Adding a pain-location criterion improved specificity. Combining the diagnostic outcomes was very effective in identifying all those without NeP and half of those with NeP. Limitations arising from the small and narrow spectrum of participants with LBP/sciatica sampled within the study prevent application of the findings to a wider population. Diagnosis, level 4-.

  12. Tumor histology and location predict deep nuclei toxicity: Implications for late effects from focal brain irradiation

    International Nuclear Information System (INIS)

    Plaga, Alexis; Shields, Lisa B.E.; Sun, David A.; Vitaz, Todd W.; Spalding, Aaron C.

    2012-01-01

    Normal tissue toxicity resulting from both disease and treatment is an adverse side effect in the management of patients with central nervous system malignancies. We tested the hypothesis that despite these improvements, certain tumors place patients at risk for neurocognitive, neuroendocrine, and neurosensory late effects. Defining patient groups at risk for these effects could allow for development of preventive strategies. Fifty patients with primary brain tumors underwent radiation planning with magnetic resonance imaging scan and computed tomography datasets. Organs at risk (OAR) responsible for neurocognitive, neuroendocrine, and neurosensory function were defined. Inverse-planned intensity-modulated radiation therapy was optimized with priority given to target coverage while penalties were assigned to exceeding normal tissue tolerances. Tumor laterality, location, and histology were compared with OAR doses, and analysis of variance was performed to determine the significance of any observed correlation. The ipsilateral hippocampus exceeded dose limits in frontal (74%), temporal (94%), and parietal (100%) lobe tumor locations. The contralateral hippocampus was at risk in the following tumor locations: frontal (53%), temporal (83%), or parietal (50%) lobe. Patients with high-grade glioma were at risk for ipsilateral (88%) and contralateral (73%) hippocampal damage (P <0.05 compared with other histologies). The pituitary gland and hypothalamus exceeded dose tolerances in patients with pituitary tumors (both 100%) and high-grade gliomas (50% and 75%, P <0.05 compared with other histologies), respectively. Despite application of modern radiation therapy, certain tumor locations and histologies continue to place patients at risk for morbidity. Patients with high-grade gliomas or tumors located in the frontal, temporal, or parietal lobes are at risk for neurocognitive decline, likely because of larger target volumes and higher radiation doses. Data from this study

  13. Tumor histology and location predict deep nuclei toxicity: Implications for late effects from focal brain irradiation

    Energy Technology Data Exchange (ETDEWEB)

    Plaga, Alexis; Shields, Lisa B.E. [Norton Neuroscience Institute, Louisville, KY (United States); Sun, David A.; Vitaz, Todd W. [Norton Neuroscience Institute, Louisville, KY (United States); Brain Tumor Center, Norton Healthcare, Louisville, KY (United States); Spalding, Aaron C., E-mail: acspalding1@gmail.com [Brain Tumor Center, Norton Healthcare, Louisville, KY (United States); Norton Cancer Institute, Radiation Center, Kosair Children' s Hospital, Louisville, KY (United States)

    2012-10-01

    Normal tissue toxicity resulting from both disease and treatment is an adverse side effect in the management of patients with central nervous system malignancies. We tested the hypothesis that despite these improvements, certain tumors place patients at risk for neurocognitive, neuroendocrine, and neurosensory late effects. Defining patient groups at risk for these effects could allow for development of preventive strategies. Fifty patients with primary brain tumors underwent radiation planning with magnetic resonance imaging scan and computed tomography datasets. Organs at risk (OAR) responsible for neurocognitive, neuroendocrine, and neurosensory function were defined. Inverse-planned intensity-modulated radiation therapy was optimized with priority given to target coverage while penalties were assigned to exceeding normal tissue tolerances. Tumor laterality, location, and histology were compared with OAR doses, and analysis of variance was performed to determine the significance of any observed correlation. The ipsilateral hippocampus exceeded dose limits in frontal (74%), temporal (94%), and parietal (100%) lobe tumor locations. The contralateral hippocampus was at risk in the following tumor locations: frontal (53%), temporal (83%), or parietal (50%) lobe. Patients with high-grade glioma were at risk for ipsilateral (88%) and contralateral (73%) hippocampal damage (P <0.05 compared with other histologies). The pituitary gland and hypothalamus exceeded dose tolerances in patients with pituitary tumors (both 100%) and high-grade gliomas (50% and 75%, P <0.05 compared with other histologies), respectively. Despite application of modern radiation therapy, certain tumor locations and histologies continue to place patients at risk for morbidity. Patients with high-grade gliomas or tumors located in the frontal, temporal, or parietal lobes are at risk for neurocognitive decline, likely because of larger target volumes and higher radiation doses. Data from this study

  14. L-DOPA is an endogenous ligand for OA1.

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    Vanessa M Lopez

    2008-09-01

    Full Text Available Albinism is a genetic defect characterized by a loss of pigmentation. The neurosensory retina, which is not pigmented, exhibits pathologic changes secondary to the loss of pigmentation in the retina pigment epithelium (RPE. How the loss of pigmentation in the RPE causes developmental defects in the adjacent neurosensory retina has not been determined, but offers a unique opportunity to investigate the interactions between these two important tissues. One of the genes that causes albinism encodes for an orphan GPCR (OA1 expressed only in pigmented cells, including the RPE. We investigated the function and signaling of OA1 in RPE and transfected cell lines. Our results indicate that OA1 is a selective L-DOPA receptor, with no measurable second messenger activity from two closely related compounds, tyrosine and dopamine. Radiolabeled ligand binding confirmed that OA1 exhibited a single, saturable binding site for L-DOPA. Dopamine competed with L-DOPA for the single OA1 binding site, suggesting it could function as an OA1 antagonist. OA1 response to L-DOPA was defined by several common measures of G-protein coupled receptor (GPCR activation, including influx of intracellular calcium and recruitment of beta-arrestin. Further, inhibition of tyrosinase, the enzyme that makes L-DOPA, resulted in decreased PEDF secretion by RPE. Further, stimulation of OA1 in RPE with L-DOPA resulted in increased PEDF secretion. Taken together, our results illustrate an autocrine loop between OA1 and tyrosinase linked through L-DOPA, and this loop includes the secretion of at least one very potent retinal neurotrophic factor. OA1 is a selective L-DOPA receptor whose downstream effects govern spatial patterning of the developing retina. Our results suggest that the retinal consequences of albinism caused by changes in melanin synthetic machinery may be treated by L-DOPA supplementation.

  15. Avaliação e acompanhamento audiológico após meningite bacteriana Audiological assessment and follow-up post bacterial meningitis

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    MARIA INÊS VIEIRA COUTO

    1999-09-01

    Full Text Available A deficiência auditiva é uma das sequelas da meningite bacteriana que ocorre com maior frequência em crianças. Este estudo descreve o perfil audiológico (periférico e central de crianças internadas com diagnóstico de meningite bacteriana. Nas 89 crianças que compareceram ao seguimento audiológico após a alta hospitalar e foram submetidas aos testes audiológicos, os resultados evidenciaram que 85,4% apresentaram acuidade auditiva normal em ambas orelhas, 10,1% apresentaram deficiência auditiva neurossensorial bilateral e 4,5% apresentaram deficiência auditiva neurossensorial unilateral. Nos testes que avaliaram as habilidades de processamento auditivo, os resultados mostraram que 10% dessas crianças apresentaram alteração no desempenho de localização auditiva e de reconhecimento de sentenças com mensagem competitiva ipsilateral.Hearing loss is the more frequent sequel of bacterial meningitis in children. This study describes the audiological profile (peripheric and central of 89 children admitted to the hospital wards with the diagnosis of bacterial meningitis. Those children attended audiological follow up, after their hospital descharge, and were submitted to audiological tests. The results showed that 85.4% among them presented normal hearing in both ears 10.1% presented bilateral neurosensorial hearing loss and 4.5% presented unilateral neurosensorial hearing loss. The results from the auditory processing skills assessment showed that 10% of those children presented auditory localization and recognition of sentences with competitive messages (Paediatric Sentences Identification - ipsilateral disorders.

  16. Displasia de Mondini asociada a meningitis bacteriana recurrente, correlación clínico-imagenológica

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    Julianis Loraine Quintero Noa

    Full Text Available Se describe la displasia de Mondini asociada a pérdida auditiva y meningitis bacteriana recurrente. La malformación de Mondini representa el 30 % de las anomalías congénitas del oído interno, puede ser unilateral o bilateral, y su principal característica consiste en el desarrollo coclear incompleto, causante de grados variables de hipoacusia neurosensorial. Se considera que la ocurrencia de esta malformación se produce por disrupción del desarrollo embrionario durante la séptima semana de gestación, en la cual se detiene el desarrollo coclear. Se presenta el caso de una niña de 12 años, atendida en los Servicios de Pediatría y Otorrinolaringología del Hospital Pediátrico Universitario "William Soler", por presentar 3 infecciones meningoencefálicas, en las cuales se aisló Streptococcus pneumoniae serotipo 19F, y se constató hipoacusia neurosensorial severa en el oído izquierdo. La tomografía axial computarizada de alta resolución del oído (cortes axiales y coronales, evidenció la malformación coclear y vestibular, con presencia de tejido en el oído medio que se comunicaba directamente con el oído interno del lado izquierdo a nivel de la ventana oval. Se destaca la importancia de la sospecha clínica de displasia de Mondini, y el impacto científico de la tomografía computarizada del hueso temporal, para el diagnóstico precoz de fístula congénita en el oído interno asociada a meningitis bacteriana recurrente.

  17. Carbon dioxide sensing modulates lifespan and physiology in Drosophila.

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    Peter C Poon

    Full Text Available For nearly all life forms, perceptual systems provide access to a host of environmental cues, including the availability of food and mates as well as the presence of disease and predators. Presumably, individuals use this information to assess the current and future states of the environment and to enact appropriate developmental, behavioral, and regulatory decisions. Recent work using the nematode worm, Caenorhabditis elegans, and the fruit fly, Drosophila melanogaster, has established that aging is subject to modulation through neurosensory systems and that this regulation is evolutionarily conserved. To date, sensory manipulations shown to impact Drosophila aging have involved general loss of function or manipulation of complex stimuli. We therefore know little about the specific inputs, sensors, or associated neural circuits that affect these life and death decisions. We find that a specialized population of olfactory neurons that express receptor Gr63a (a component of the olfactory receptor for gaseous phase CO(2 affects fly lifespan and physiology. Gr63a loss of function leads to extended lifespan, increased fat deposition, and enhanced resistance to some (but not all environmental stresses. Furthermore, we find that the reduced lifespan that accompanies exposure to odors from live yeast is dependent on Gr63a. Together these data implicate a specific sensory cue (CO(2 and its associated receptor as having the ability to modulate fly lifespan and alter organism stress response and physiology. Because Gr63a is expressed in a well-defined population of neurons, future work may now be directed at dissecting more complex neurosensory and neuroendocrine circuits that modulate aging in Drosophila.

  18. Carbon dioxide sensing modulates lifespan and physiology in Drosophila.

    Science.gov (United States)

    Poon, Peter C; Kuo, Tsung-Han; Linford, Nancy J; Roman, Gregg; Pletcher, Scott D

    2010-04-20

    For nearly all life forms, perceptual systems provide access to a host of environmental cues, including the availability of food and mates as well as the presence of disease and predators. Presumably, individuals use this information to assess the current and future states of the environment and to enact appropriate developmental, behavioral, and regulatory decisions. Recent work using the nematode worm, Caenorhabditis elegans, and the fruit fly, Drosophila melanogaster, has established that aging is subject to modulation through neurosensory systems and that this regulation is evolutionarily conserved. To date, sensory manipulations shown to impact Drosophila aging have involved general loss of function or manipulation of complex stimuli. We therefore know little about the specific inputs, sensors, or associated neural circuits that affect these life and death decisions. We find that a specialized population of olfactory neurons that express receptor Gr63a (a component of the olfactory receptor for gaseous phase CO(2)) affects fly lifespan and physiology. Gr63a loss of function leads to extended lifespan, increased fat deposition, and enhanced resistance to some (but not all) environmental stresses. Furthermore, we find that the reduced lifespan that accompanies exposure to odors from live yeast is dependent on Gr63a. Together these data implicate a specific sensory cue (CO(2)) and its associated receptor as having the ability to modulate fly lifespan and alter organism stress response and physiology. Because Gr63a is expressed in a well-defined population of neurons, future work may now be directed at dissecting more complex neurosensory and neuroendocrine circuits that modulate aging in Drosophila.

  19. The Magpie Trial follow up study: outcome after discharge from hospital for women and children recruited to a trial comparing magnesium sulphate with placebo for pre-eclampsia [ISRCTN86938761

    Directory of Open Access Journals (Sweden)

    2004-03-01

    Full Text Available Abstract Background The Magpie Trial compared magnesium sulphate with placebo for women with pre-eclampsia. 10,141 women were recruited, 8804 before delivery. Overall, 9024 children were included in the analysis of outcome at discharge from hospital. Magnesium sulphate more than halved the risk of eclampsia, and probably reduced the risk of maternal death. There did not appear to be any substantive harmful effects on the baby, in the short term. It is now important to assess whether these benefits persist, and to provide adequate reassurance about longer term safety. The main objective of the Magpie Trial Follow Up Study is to assess whether in utero exposure to magnesium sulphate has a clinically important effect on the child's chance of surviving without major neurosensory disability. Other objectives are to assess long term outcome for the mother, and to develop and assess appropriate strategies for following up large numbers of children in perinatal trials. Study design Follow up is only feasible in selected centres. We therefore anticipate contacting 2800–3350 families, for 2435–2915 of whom the woman was randomised before delivery. A further 280–335 children would have been eligible for follow up if they had survived. The total sample size for the children is therefore 3080–3685, 2680–3210 of whom will have been born to women randomised before delivery. Families eligible for the follow up will be contacted, and surviving children screened using the Ages and Stages Questionnaires. Children who screen positive, and a sample of those who screen negative, will whenever possible have a paediatric and neurodevelopmental assessment. When women are contacted to ask how their child is, they will also be asked about their own health. The primary outcome is a composite measure of death or neurosensory disability for the child at 18 months. Discussion The Follow Up Study began in 2002, and now involves collaborators in 19 countries. Data

  20. Aquisição de habilidades motoras até a marcha independente em prematuros de muito baixo peso Acquisition of motor abilities up to independent walking in very low birth weight preterm infants

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    Sandra C. P. Volpi

    2010-04-01

    Full Text Available OBJETIVO: Determinar as idades cronológica e corrigida de aquisição das habilidades motoras até a marcha independente em prematuros de muito baixo peso e avaliar até quando é necessário o uso da idade corrigida. MÉTODOS: Estudo longitudinal de prematuros OBJECTIVE: To determine chronological and corrected ages at acquisition of motor abilities up to unaided walking in very low weight preterms and to determine up to what point it is necessary to use corrected age. METHODS: This was a longitudinal study of preterms with birth weight < 1,500 g and gestational age < 34 weeks, free from neurosensory sequelae, selected at the high-risk infants follow-up clinic at the Hospital das Clínicas, Faculdade de Medicina de Botucatu, Universidade Estadual Paulista (UNESP in Botucatu, Brazil, between 1998 to 2003, and assessed every 2 months until acquisition of unaided walking. RESULTS: Nine percent of the 155 preterms recruited were excluded from the study, leaving a total of 143 patients. The mean gestational age was 30±2 weeks, birth weight was 1,130±222 g, 59% were female and 44% were small for gestational age. Preterms achieved head control in their second month, could sit unaided at 7 months and walked at 12.8 months' corrected age, corresponding to the 4th, 9th and 15th months of chronological age. There were significant differences between chronological age and corrected age for all motor abilities. Preterms who were small for their gestational age acquired motor abilities later, but still within expected limits. CONCLUSIONS: Very low weight preterms, free from neurosensory disorders, acquired their motor abilities within the ranges expected for their corrected ages. Corrected age should be used until unaided walking is achieved.

  1. Síndrome de Usher de tipo II: caracterización oftalmológica, auditiva y genética de una familia consanguínea Type II Usher syndrome: ophthalmological, auditory, and genetic characterization of a consanguineous family

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    Rásife Freyre Luque

    2011-09-01

    Full Text Available Se caracterizó a una familia consanguínea de 25 miembros, 3 de los cuales padecían el síndrome de Usher de tipo II, a través del estudio auditivo, oftalmológico y genético en el Centro de Retinosis Pigmentaria de Santiago de Cuba. Los pacientes (2 varones y 1 fémina tenían en común: aparición de la enfermedad en la etapa juvenil, mala visión nocturna, campos visuales reducidos, hipoacusia neurosensorial y resultados normales en las pruebas vestibulares; asimismo, en genética molecular, la electroforesis en gel de poliacrilamida reveló la presencia del marcador D1S237, estrechamente ligado al gen USH2 en el cromosoma 1. Esa caracterización permitirá aplicar la terapia génica y los implantes, tanto de células madre como cocleares, según corresponda.A consanguineous family of 25 members, 3 of whom suffered from type II Usher syndrome was characterized through the auditory, ophthalmologic, and genetic study in the Retinitis Pigmentosa Center from Santiago de Cuba. The patients (2 males and a female had in common: occurrence of the illness during youth, bad night vision, reduced visual fields, neurosensorial hypoakusia, and normal results in the vestibular tests; also, in molecular genetics, electrophoresis in polyacrilamide gel revealed the presence of the D1S237 marker, closely linked to the gene USH2 in chromosome 1. That characterization will allow to apply the genic therapy and both implants, mother cells and cochlear, as it corresponds.

  2. LA DISCAPACIDAD SENSORIAL DESDE LA PERSPECTIVA DE UN GENETISTA.

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    Martalucia Tamayo F.

    2009-12-01

    Full Text Available

    Introducción: Se presenta un análisis de la enfermedad genética sensorial, que pretende llevar al médico general o especialista a estudiar el impacto que la enfermedad genética tiene en el individuo, en la familia y más aún, en la sociedad.

    Definiciones

    SORDERA: Es un término que comúnmente engloba cualquier pérdida en la capacidad auditiva de un individuo.

    CEGUERA: La Organización Internacional para la Prevención de la Ceguera, define el término ceguera como una medida que debe aplicarse cuando, en el mejor ojo y con corrección, se tiene una visión residual menor o igual a 20/200, o un campo visual menor o igual a 10 grados.

    SORDOCEGUERA: Las organizaciones internacionales como la Federación Mundial de Personas Sordociegas (WFDB -por sus siglas en inglés, la Federación Latinoamericana de Personas Sordociegas (FLASC y Sense Internacional (Latinoamérica entre otras, al igual que la mayoría de los profesionales, utilizan las palabras “sordoceguera”, “persona sordociega”, “sordociego”, etc.; como una sola palabra, puesto que es una limitación única.

    Materiales y Métodos: Con la colaboración de la oNg Fundación Derecho a Vivir en Desventaja, se hizo el seguimiento del programa de Sorderas y Cegueras Genética en la ciudad de Bogotá, mediante las visitas domiciliarias y citaciones a las familias que han sido detectadas con esta patología, gracias a la intervención de estudiantes de trabajo social. Se visitaron y se estudiaron cerca de 200 familias.

    Objetivos: Seguimiento de pacientes con limitaciones sensoriales de origen genético para fortalecer los programas de tamizaje neonatal o escolar existentes actualmente; Diagnosticar nuevos casos y definir su situación y condición médica; ofrecer instrucción sobre la enfermedad a los

  3. Techniques of monitoring blood glucose during pregnancy for women with pre-existing diabetes.

    Science.gov (United States)

    Moy, Foong Ming; Ray, Amita; Buckley, Brian S; West, Helen M

    2017-06-11

    sample sizes, and few events. In addition, there was high heterogeneity for some outcomes.Various methods of glucose monitoring were compared in the trials. Neither pooled analyses nor individual trial analyses showed any clear advantages of one monitoring technique over another for primary and secondary outcomes. Many important outcomes were not reported.1. Self-monitoring versus standard care (two studies, 43 women): there was no clear difference for caesarean section (risk ratio (RR) 0.78, 95% confidence interval (CI) 0.40 to 1.49; one study, 28 women) or glycaemic control (both very low-quality), and not enough evidence to assess perinatal mortality and neonatal mortality and morbidity composite. Hypertensive disorders of pregnancy, large-for-gestational age, neurosensory disability, and preterm birth were not reported in either study.2. Self-monitoring versus hospitalisation (one study, 100 women): there was no clear difference for hypertensive disorders of pregnancy (pre-eclampsia and hypertension) (RR 4.26, 95% CI 0.52 to 35.16; very low-quality: RR 0.43, 95% CI 0.08 to 2.22; very low-quality). There was no clear difference in caesarean section or preterm birth less than 37 weeks' gestation (both very low quality), and the sample size was too small to assess perinatal mortality (very low-quality). Large-for-gestational age, mortality or morbidity composite, neurosensory disability and preterm birth less than 34 weeks were not reported.3. Pre-prandial versus post-prandial glucose monitoring (one study, 61 women): there was no clear difference between groups for caesarean section (RR 1.45, 95% CI 0.92 to 2.28; very low-quality), large-for-gestational age (RR 1.16, 95% CI 0.73 to 1.85; very low-quality) or glycaemic control (very low-quality). The results for hypertensive disorders of pregnancy: pre-eclampsia and perinatal mortality are not meaningful because these outcomes were too rare to show differences in a small sample (all very low-quality). The study did not

  4. Vascular Patterns in Iguanas and Other Squamates: Blood Vessels and Sites of Thermal Exchange.

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    William Ruger Porter

    Full Text Available Squamates use the circulatory system to regulate body and head temperatures during both heating and cooling. The flexibility of this system, which possibly exceeds that of endotherms, offers a number of physiological mechanisms to gain or retain heat (e.g., increase peripheral blood flow and heart rate, cooling the head to prolong basking time for the body as well as to shed heat (modulate peripheral blood flow, expose sites of thermal exchange. Squamates also have the ability to establish and maintain the same head-to-body temperature differential that birds, crocodilians, and mammals demonstrate, but without a discrete rete or other vascular physiological device. Squamates offer important anatomical and phylogenetic evidence for the inference of the blood vessels of dinosaurs and other extinct archosaurs in that they shed light on the basal diapsid condition. Given this basal positioning, squamates likewise inform and constrain the range of physiological thermoregulatory mechanisms that may have been found in Dinosauria. Unfortunately, the literature on squamate vascular anatomy is limited. Cephalic vascular anatomy of green iguanas (Iguana iguana was investigated using a differential-contrast, dual-vascular injection (DCDVI technique and high-resolution X-ray microcomputed tomography (μCT. Blood vessels were digitally segmented to create a surface representation of vascular pathways. Known sites of thermal exchange, consisting of the oral, nasal, and orbital regions, were given special attention due to their role in brain and cephalic thermoregulation. Blood vessels to and from sites of thermal exchange were investigated to detect conserved vascular patterns and to assess their ability to deliver cooled blood to the dural venous sinuses. Arteries within sites of thermal exchange were found to deliver blood directly and through collateral pathways. The venous drainage was found to have multiple pathways that could influence neurosensory

  5. Aspectos epidemiológicos del trauma acústico en personal expuesto a ruido intenso Epidemiological aspects of acoustic trauma found in the staff exposed to intensive noise

    Directory of Open Access Journals (Sweden)

    Yazmila Rodríguez Fernández

    2012-06-01

    Full Text Available Introducción: el trauma acústico, ligado a las enfermedades profesionales, comenzó a estudiarse con profundidad a raíz de la segunda guerra mundial, y por los alarmantes resultados se implantaron una serie de medidas de prevención para evitar esta agresión. No obstante, estas no fueron eficaces debido a la falta de educación y de concientización del personal al cual iban dirigidas. Objetivos: determinar las manifestaciones auditivas en pacientes expuestos a ruidos intensos, teniendo en cuenta la edad, el sexo y el tiempo de exposición, y tomando como base los resultados audiométricos. Métodos: se realizó una encuesta epidemiológica a un grupo de 50 casos expuestos a ruidos intensos, en el período comprendido de enero de 2007 a enero de 2008. La muestra estuvo compuesta por pacientes entre los 20 y 55 años, en los cuales la manifestación auditiva más frecuente fue la hipoacusia. Resultados: en los resultados audiométricos se observó que la gran mayoría de los casos presentó una hipoacusia de tipo neurosensorial, con predominio del sexo masculino. Conclusiones: el sexo masculino fue el más afectado y la edad de 41 a 55 años, además, la intensidad de la hipoacusia fue mayor en correspondencia con el tiempo de exposición más prolongado.Introduction: acoustic trauma is linked to professional diseases and began to be studied in depth after the Second World War. Due to the alarming results obtained, a number of preventive measures to avoid this aggression were implemented; however, they were not effective because of the lack of education and awareness of the staff to which they were directed. Objectives: to find out the auditory manifestations in patients exposed to intensive noise, taking age, sex, time of exposure and the audiometric results into consideration. Methods: an epidemiological survey was carried out in a group of 50 cases exposed to intensive noises from January 2007 to January, 2008. The sample was made up of 20

  6. Multiple courses of antenatal corticosteroids for preterm birth study: outcomes in children at 5 years of age (MACS-5).

    Science.gov (United States)

    Asztalos, Elizabeth V; Murphy, Kellie E; Willan, Andrew R; Matthews, Stephen G; Ohlsson, Arne; Saigal, Saroj; Armson, B Anthony; Kelly, Edmond N; Delisle, Marie-France; Gafni, Amiram; Lee, Shoo K; Sananes, Renee; Rovet, Joanne; Guselle, Patricia; Amankwah, Kofi; Saleem, Mariam; Sanchez, Johanna

    2013-12-01

    A single course of antenatal corticosteroid therapy is recommended for pregnant women at risk of preterm birth between 24 and 33 weeks' gestational age. However, 50% of women remain pregnant 7 to 14 days later, leading to the question of whether additional courses should be given to women remaining at risk for preterm birth. The Multiple Courses of Antenatal Corticosteroids for Preterm Birth Study (MACS) was an international randomized clinical trial that compared multiple courses of antenatal corticosteroids with a single course in women at risk of preterm birth. To determine the effects of single vs multiple courses of antenatal corticosteroid therapy on death or neurodevelopmental disability (neuromotor, neurosensory, or neurocognitive/neurobehavioral function) at 5 years of age in children whose mothers participated in MACS. Our secondary aims were to determine the effect on height, weight, head circumference, blood pressure, intelligence, and specific cognitive (visual, spatial, and language) skills. Cohort follow-up study of children seen between June 2006 and May 2012 at 55 centers. In total, 1724 women (2141 children) were eligible for the study, of whom 1728 children (80.7% of the 2141 eligible children) participated and 1719 children contributed to the primary outcome. Single and multiple courses of antenatal corticosteroid therapy. The primary outcome was death or survival with a neurodevelopmental disability in 1 of the following domains: neuromotor (nonambulatory cerebral palsy), neurosensory (blindness, deafness, or need for visual/hearing aids), or neurocognitive/neurobehavioral function (abnormal attention, memory, or behavior). There was no significant difference between the groups in the risk of death or neurodevelopmental disability: 217 of 871 children (24.9%) in the multiple-courses group vs 210 of 848 children (24.8%) in the single-course group (odds ratio, 1.02 [95% CI, 0.81 to 1.29]; P = .84). Multiple courses, compared with a single

  7. Association of Neonatal Glycemia With Neurodevelopmental Outcomes at 4.5 Years.

    Science.gov (United States)

    McKinlay, Christopher J D; Alsweiler, Jane M; Anstice, Nicola S; Burakevych, Nataliia; Chakraborty, Arijit; Chase, J Geoffrey; Gamble, Gregory D; Harris, Deborah L; Jacobs, Robert J; Jiang, Yannan; Paudel, Nabin; San Diego, Ryan J; Thompson, Benjamin; Wouldes, Trecia A; Harding, Jane E

    2017-10-01

    Hypoglycemia is common during neonatal transition and may cause permanent neurological impairment, but optimal intervention thresholds are unknown. To test the hypothesis that neurodevelopment at 4.5 years is related to the severity and frequency of neonatal hypoglycemia. The Children With Hypoglycemia and Their Later Development (CHYLD) Study is a prospective cohort investigation of moderate to late preterm and term infants born at risk of hypoglycemia. Clinicians were masked to neonatal interstitial glucose concentrations; outcome assessors were masked to neonatal glycemic status. The setting was a regional perinatal center in Hamilton, New Zealand. The study was conducted from December 2006 to November 2010. The dates of the follow-up were September 2011 to June 2015. Participants were 614 neonates born from 32 weeks' gestation with at least 1 risk factor for hypoglycemia, including diabetic mother, preterm, small, large, or acute illness. Blood and masked interstitial glucose concentrations were measured for up to 7 days after birth. Infants with hypoglycemia (whole-blood glucose concentration Neonatal hypoglycemic episode, defined as at least 1 consecutive blood glucose concentration less than 47 mg/dL, a severe episode (neonatal hypoglycemia (280 [58.7%]) did not have increased risk of neurosensory impairment (risk difference [RD], 0.01; 95% CI, -0.07 to 0.10 and risk ratio [RR], 0.96; 95% CI, 0.77 to 1.21). However, hypoglycemia was associated with increased risk of low executive function (RD, 0.05; 95% CI, 0.01 to 0.10 and RR, 2.32; 95% CI, 1.17 to 4.59) and visual motor function (RD, 0.03; 95% CI, 0.01 to 0.06 and RR, 3.67; 95% CI, 1.15 to 11.69), with highest risk in children exposed to severe, recurrent, or clinically undetected (interstitial episodes only) hypoglycemia. Neonatal hypoglycemia was not associated with increased risk of combined neurosensory impairment at 4.5 years but was associated with a dose-dependent increased risk of poor executive

  8. ELECTROOCULOGRAPHY AND PATTERN ERG IN THE DIAGNOSTICS OF BEST’S VITELLIFORM DISTROPHY

    Directory of Open Access Journals (Sweden)

    Martina Jarc-Vidmar

    2002-12-01

    Full Text Available Background. The aim of the study was to develop electrooculography in accordance with ISCEV standards and to test its accuracy in the diagnosis of Best’s disease, where the EOG results should be invariably abnormal in all affected members. The pathophysiology of Best’s disease is not yet completely understood, so pattern and full field flash ERG responses compared to visual acuity and stage of the disease were used to asses the neurosensory retinal function in different stages of Best’s disease.Patients and methods. The EOG was recorded in accordance with ISCEV standards on 30 healthy individuals to determine normal values of our laboratory. Pattern as well as photopic and scotopic ERG were recorded on 24 eyes of 12 patients with typical Best’s disease with abnormal EOG responses. The results were compared to visual acuity and stage of the disease.Results. Our EOG normative data are comparable with results from other laboratories: the mean value of Arden ratio is 2.32, the range of 2 standard deviations from the mean value is from 1.6 to 3.04. The patients with Best’s disease have statisticaly significant lower values of Arden ratio (the mean value beeing 1.19. 12 patients (24 eyes with Best’s disease with abnormal EOG values were divided in two groups according to visual acuity. In the first group of 12 eyes with visual acuity > 0.5 PERG P50 and N95 responses were all in the normal range. In the second group of 12 eyes with visual acuity 0.5 or less PERG showed reduced both P50 and N95 responses in 5 eyes, and N95 solely, in two eyes.The photopic and scotopic electroretinographic responses were normal in all patients. Progression of the disease, seen in the deterioration of visual acuity, corresponded well with reduction of both PERG P50 and N95 responses. There was no correlation found between visual acuity and EOG responses.Conclusions. In the study on patients with Best’s disease, it was confirmed that EOG is a very sensitive

  9. Melatonin for women in pregnancy for neuroprotection of the fetus.

    Science.gov (United States)

    Wilkinson, Dominic; Shepherd, Emily; Wallace, Euan M

    2016-03-29

    Melatonin is an antioxidant with anti-inflammatory and anti-apoptotic effects. Animal studies have supported a fetal neuroprotective role for melatonin when administered maternally. It is important to assess whether melatonin, given to the mother, can reduce the risk of neurosensory disabilities (including cerebral palsy) and death, associated with fetal brain injury, for the preterm or term compromised fetus. To assess the effects of melatonin when used for neuroprotection of the fetus. We searched the Cochrane Pregnancy and Childbirth Group's Trials Register (31 January 2016). We planned to include randomised controlled trials and quasi-randomised controlled trials comparing melatonin given to women in pregnancy (regardless of the route, timing, dose and duration of administration) for fetal neuroprotection with placebo, no treatment, or with an alternative agent aimed at providing fetal neuroprotection. We also planned to include comparisons of different regimens for administration of melatonin. Two review authors planned to independently assess trial eligibility, trial quality and extract the data. We found no randomised trials for inclusion in this review. One study is ongoing. As we did not identify any randomised trials for inclusion in this review, we are unable to comment on implications for practice at this stage.Although evidence from animals studies has supported a fetal neuroprotective role for melatonin when administered to the mother during pregnancy, no trials assessing melatonin for fetal neuroprotection in pregnant women have been completed to date. However, there is currently one ongoing randomised controlled trial (with an estimated enrolment target of 60 pregnant women) which examines the dose of melatonin, administered to women at risk of imminent very preterm birth (less than 28 weeks' gestation) required to reduce brain damage in the white matter of the babies that were born very preterm.Further high-quality research is needed and research

  10. Vascular Patterns in Iguanas and Other Squamates: Blood Vessels and Sites of Thermal Exchange.

    Science.gov (United States)

    Porter, William Ruger; Witmer, Lawrence M

    2015-01-01

    Squamates use the circulatory system to regulate body and head temperatures during both heating and cooling. The flexibility of this system, which possibly exceeds that of endotherms, offers a number of physiological mechanisms to gain or retain heat (e.g., increase peripheral blood flow and heart rate, cooling the head to prolong basking time for the body) as well as to shed heat (modulate peripheral blood flow, expose sites of thermal exchange). Squamates also have the ability to establish and maintain the same head-to-body temperature differential that birds, crocodilians, and mammals demonstrate, but without a discrete rete or other vascular physiological device. Squamates offer important anatomical and phylogenetic evidence for the inference of the blood vessels of dinosaurs and other extinct archosaurs in that they shed light on the basal diapsid condition. Given this basal positioning, squamates likewise inform and constrain the range of physiological thermoregulatory mechanisms that may have been found in Dinosauria. Unfortunately, the literature on squamate vascular anatomy is limited. Cephalic vascular anatomy of green iguanas (Iguana iguana) was investigated using a differential-contrast, dual-vascular injection (DCDVI) technique and high-resolution X-ray microcomputed tomography (μCT). Blood vessels were digitally segmented to create a surface representation of vascular pathways. Known sites of thermal exchange, consisting of the oral, nasal, and orbital regions, were given special attention due to their role in brain and cephalic thermoregulation. Blood vessels to and from sites of thermal exchange were investigated to detect conserved vascular patterns and to assess their ability to deliver cooled blood to the dural venous sinuses. Arteries within sites of thermal exchange were found to deliver blood directly and through collateral pathways. The venous drainage was found to have multiple pathways that could influence neurosensory tissue temperature

  11. Efectos del contacto piel con piel del recién nacido con su madre Skin to skin contact effects in newborns and their mothers

    Directory of Open Access Journals (Sweden)

    Camila Lucchini Raies

    2012-12-01

    Full Text Available Antecedentes: el contacto piel con piel ha sido una práctica ancestral en toda cultura, que debido a la institucionalización de la atención del parto, disminuyó en occidente. Se retomó en el marco de la atención humanizada del parto. Objetivo principal: determinar los efectos del contacto piel con piel del recién nacido con su madre. Metodología: revisión bibliográfica de 26 estudios. Límites de búsqueda: new borns, humans, clinical trials, de 10 años de publicación, en bases de datos: Pubmed, ProQuest, CINHAL, Lilacs. Resultados principales: Se observaron beneficios en las variables: duración de lactancia materna, comportamiento neurosensorial, regulación de temperatura, como alternativa al cuidado estándar, disminución en días hospitalización y niveles de cortisol, favorecedor de la interacción madre-hijo y desarrollo infantil. Conclusión principal: el contacto piel con piel brinda múltiples beneficios a recién nacidos. Se presenta como alternativa de cuidado segura, factible de implementar.Background: skin to skin contact has been an ancient practice in all cultures, that due to the institutionalization of care delivery, decreased in the west. Was revived as part of humanized care delivery. Main objective: to determine effects of skin contact of the newborn with her mother. Methodology: a review of 26 studies. Search limits: new borns, Humans, clinical trials, 10 years of publication, database PubMed, ProQuest, CINAHL, Lilacs. Main results: benefits were seen in the following variables: duration of breastfeeding, neurosensorial behavior, temperature regulation, as an alternative to standard care, decreased of hospitalization days and cortisol levels, favoring the mother-child interaction and child development. Main conclusion: skin to skin contact provides multiple benefits to newborns. It is presented as an alternative to secure care, feasible to implement.

  12. Early adaptive response of the retina to a pro-diabetogenic diet: Impairment of cone response and gene expression changes in high-fructose fed rats.

    Science.gov (United States)

    Thierry, Magalie; Pasquis, Bruno; Buteau, Bénédicte; Fourgeux, Cynthia; Dembele, Doulaye; Leclere, Laurent; Gambert-Nicot, Ségolène; Acar, Niyazi; Bron, Alain M; Creuzot-Garcher, Catherine P; Bretillon, Lionel

    2015-06-01

    The lack of plasticity of neurons to respond to dietary changes, such as high fat and high fructose diets, by modulating gene and protein expression has been associated with functional and behavioral impairments that can have detrimental consequences. The inhibition of high fat-induced rewiring of hypothalamic neurons induced obesity. Feeding rodents with high fructose is a recognized and widely used model to trigger obesity and metabolic syndrome. However the adaptive response of the retina to short term feeding with high fructose is poorly documented. We therefore aimed to characterize both the functional and gene expression changes in the neurosensory retina of Brown Norway rats fed during 3 and 8 days with a 60%-rich fructose diet (n = 16 per diet and per time point). Glucose, insulin, leptin, triacylglycerols, total cholesterol, HDL-cholesterol, LDL-cholesterol and fructosamine were quantified in plasma (n = 8 in each group). Functionality of the inner retina was studied using scotopic single flash electroretinography (n = 8 in each group) and the individual response of rod and cone photoreceptors was determined using 8.02 Hz Flicker electroretinography (n = 8 in each group). Analysis of gene expression in the neurosensory retina was performed by Affymetrix genechips, and confirmed by RT-qPCR (n = 6 in each group). Elevated glycemia (+13%), insulinemia (+83%), and leptinemia (+172%) was observed after 8 days of fructose feeding. The cone photoreceptor response was altered at day 8 in high fructose fed rats (Δ = 0.5 log unit of light stimulus intensity). Affymetrix analysis of gene expression highlighted significant modulation of the pathways of eIF2 signaling and endoplasmic reticulum stress, regulation of eIF4 and p70S6K signaling, as well as mTOR signaling and mitochondrial dysfunction. RT-qPCR analysis confirmed the down regulation of Crystallins, Npy, Nid1 and Optc genes after 3 days of fructose feeding, and up regulation of End2. Meanwhile, a trend

  13. The quest for restoring hearing: Understanding ear development more completely.

    Science.gov (United States)

    Jahan, Israt; Pan, Ning; Elliott, Karen L; Fritzsch, Bernd

    2015-09-01

    Neurosensory hearing loss is a growing problem of super-aged societies. Cochlear implants can restore some hearing, but rebuilding a lost hearing organ would be superior. Research has discovered many cellular and molecular steps to develop a hearing organ but translating those insights into hearing organ restoration remains unclear. For example, we cannot make various hair cell types and arrange them into their specific patterns surrounded by the right type of supporting cells in the right numbers. Our overview of the topologically highly organized and functionally diversified cellular mosaic of the mammalian hearing organ highlights what is known and unknown about its development. Following this analysis, we suggest critical steps to guide future attempts toward restoration of a functional organ of Corti. We argue that generating mutant mouse lines that mimic human pathology to fine-tune attempts toward long-term functional restoration are needed to go beyond the hope generated by restoring single hair cells in postnatal sensory epithelia. © 2015 WILEY Periodicals, Inc.

  14. Comparative evaluation of different methods of treatment of miners with vibration-noise pathology

    Energy Technology Data Exchange (ETDEWEB)

    Bel' skaya, M.L.; Nekhorosheva, M.A.; Konovalova, S.I.; Kukhtina, G.V.; Gonchar, I.G.; Terent' eva, D.P.; Grishchenko, L.A.; Soboleva, N.P.; Kharitonov, S.A.; Priklonskii, I.V.

    1984-10-01

    Two new therapeutic methods of treating vibration-noise pathology, needle acupuncture and hyperbaric oxygenation, are compared with established methods of medical and physical therapy. Four complexes of therapy are recommended: I complex (control), medication and physical therapy; II complex, acupuncture and medical therapy; III complex, acupuncture, medical and physical therapy; IV complex, hyperbaric oxygenation, medical and physical therapy. The four complexes were tested on a selected group of miners. II, III and IV complexes were correlated with control (I) on the basis of subjective signs, objective changes in nervous system and functional state of vegetative and peripheral nervous system. A table compares the effectiveness of II, III, IV complexes with I complex. Results confirm effectiveness of medical and physical therapy. Application of acupuncture increases benefits to cardiovascular system and hyperbaric therapy aids neurosensory hearing impairment. As a result of investigation, acupuncture and hyperbaric therapy are recommended for treatment of patients suffering vibration-noise pathology with a differential approach to their purpose. 8 references.

  15. McCune-Albright syndrome, natural history and multidisciplinary management in a series of 14 pediatric cases.

    Science.gov (United States)

    Agopiantz, Mikael; Journeau, Pierre; Lebon-Labich, Béatrice; Sorlin, Arthur; Cuny, Thomas; Weryha, Georges; Leheup, Bruno

    2016-02-01

    McCune-Albright syndrome is a rare disorder characterized by endocrine disorders, café-au-lait spots and fibrous dysplasia of bone that occurs early in life. A series of 14 pediatric cases were followed between 1994 and 2013 by the competence center for rare endocrine diseases and constitutional bone diseases at CHU de Nancy (France). The diagnosis is based on the presence of at least two symptoms. The mean follow-up was 6 years (1-17 years). The sex ratio was six girls per boy. The incidence was 0.28 cases/million population/year. Mean age at diagnosis was 6 years. A mutation in the GNAS gene was found in 33% of patients tested. Gonadal involvement (13/14 cases), including early peripheral puberty and ovarian cysts in girls (82%) occurred on average at 4 years of age. Bone involvement (10/14 cases) appeared on average at 5 years of age and was most often multiple (80%) with fracture risk, and the skull, with a neurosensory risk. Clinical definition and methods of screening and monitoring can be improved to allow for an earlier intervention. It must be multidisciplinary and take into account the disability and quality of life of the patient. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  16. Frailty Markers and Treatment Decisions in Patients Seen in Oncogeriatric Clinics: Results from the ASRO Pilot Study.

    Science.gov (United States)

    Farcet, Anaïs; de Decker, Laure; Pauly, Vanessa; Rousseau, Frédérique; Bergman, Howard; Molines, Catherine; Retornaz, Frédérique

    2016-01-01

    Comprehensive Geriatric Assessment (CGA) is the gold standard to help oncologists select the best cancer treatment for their older patients. Some authors have suggested that the concept of frailty could be a more useful approach in this population. We investigated whether frailty markers are associated with treatment recommendations in an oncogeriatric clinic. This prospective study included 70 years and older patients with solid tumors and referred for an oncogeriatric assessment. The CGA included nine domains: autonomy, comorbidities, medication, cognition, nutrition, mood, neurosensory deficits, falls, and social status. Five frailty markers were assessed (nutrition, physical activity, energy, mobility, and strength). Patients were categorized as Frail (three or more frailty markers), pre-frail (one or two frailty markers), or not-frail (no frailty marker). Treatment recommendations were classified into two categories: standard treatment with and without any changes and supportive/palliative care. Multiple logistic regression models were used to analyze factors associated with treatment recommendations. 217 patients, mean age 83 years (± Standard deviation (SD) 5.3), were included. In the univariate analysis, number of frailty markers, grip strength, physical activity, mobility, nutrition, energy, autonomy, depression, Eastern Cooperative Oncology Group Scale of Performance Status (ECOG-PS), and falls were significantly associated with final treatment recommendations. In the multivariate analysis, the number of frailty markers and basic Activities of Daily Living (ADL) were significantly associated with final treatment recommendations (pmarkers are associated with final treatment recommendations in older cancer patients. Longitudinal studies are warranted to better determine their use in a geriatric oncology setting.

  17. Susac syndrome: the first case report in Peru

    Directory of Open Access Journals (Sweden)

    Carolina Rivadeneira-Sotelo

    2017-08-01

    Full Text Available Resumen El síndrome de Susac es una entidad rara, caracterizada por la triada clásica de encefalopatía subaguda, oclusión de la arteria retiniana e hipoacusia neurosensorial. Es más frecuente en mujeres, la edad de inicio fluctúa entre los nueve y los 58 años de edad. La patogénesis se plantea como un cuadro microangiopático a nivel cerebral, retiniano y coclear asociado a un mecanismo autoinmune. Presentamos el caso de una mujer de 31 años de edad que inició con cefalea holocraneana, conducta pueril, bradilalia y somnolencia. En la angiografía con fluoresceína de retina presentó en la evolución un déficit auditivo y obstrucción arterial de la rama temporal retiniana derecha. La resonancia magnética cerebral mostró lesiones redondeadas hiperintensas en el cuerpo calloso, región periventricular y cerebelo. Se reporta el primer caso de síndrome de Susac definido en Perú, el que se manifestó con la triada clásica, que es de presentación poco frecuente. Sin embargo, también los casos que muestran formas incompletas deben ser evaluados oportunamente para iniciar un tratamiento oportuno y evitar secuelas irreversibles.

  18. [A case report on Waardenburg syndrome with cleft lip].

    Science.gov (United States)

    Traoré, H; Traoré, D; Ouane, O; Simpara, B; Ongoiba, N

    2011-01-01

    The syndrome of Waardenburg is a congenital plurimal formatif unit rare described and individualized for the first time by Waardenburg in 1951. It associates in its form most typical dystopie canthale intern, a widening of the base of the nose, disorders of the pigmentation. We wanted brought back this case because of its scarcity. It was about a 18 month old infant without particular antecedents, which was drawn up to us for correction of congenital malformation. The interrogation did not make it possible to find signs functional notable. With the examination it had a general good state. t presented a bilateral iridal hypochromy, a dystopie canthale, a canitie, a bilateral labial slit. The diagnosis of presumption was the Syndrome of Waardenburg because of the description of at least 2 major signs: dystopie canthale and disorders of the pigmentation. The complementary examinations carried out were those of the preoperative assessment which returned normal. The biological diagnosis which rests on the search for change of gene was not made for reasons of technical order and financier. The surgery is centered on the treatment of the labial slit. A chéiloplastie according to Millard was carried out. The continuations were simple. The Syndrome of Waardenburg is a rare, hereditary entity. A neurosensory deafness, musculo-skeletal anomalies, thus qu' a disease of Hirschsprung will have to be systematically required. The surgery of the slit or the télécanthus allows an social integration of the subjects reached.

  19. Functional and physiological characteristics of the aging skin.

    Science.gov (United States)

    Farage, Miranda A; Miller, Kenneth W; Elsner, Peter; Maibach, Howard I

    2008-06-01

    As life expectancy in the U.S. increases - and with it the proportion of the aged in the population - appropriate care of elderly skin becomes a medical concern of increasing importance. As skin ages, the intrinsic structural changes that are a natural consequence of passing time are inevitably followed by subsequent physiological changes that affect the skin's ability to function as the interface between internal and external environments. The pH of the skin surface increases with age, increasing its susceptibility to infection. Neurosensory perception of superficial pain is diminished both in intensity and speed of perception (increasing the risk of thermal injury); deep tissue pain, however, may be enhanced. A decline in lipid content as the skin ages inhibits the permeability of nonlipophilic compounds, reducing the efficacy of some topical medications. Allergic and irritant reactions are blunted, as is the inflammatory response, compromising the ability of the aged skin to affect wound repair. These functional impairments (although a predictable consequence of intrinsic structural changes) have the potential to cause significant morbidity in the elderly patient and may, as well, be greatly exacerbated by extrinsic factors like photodamage. As numbers of the elderly increase, medical as well as cosmetic dermatological interventions will be necessary to optimize the quality of life for this segment of the population.

  20. Long-chain n-3 PUFAs from fish oil enhance resting state brain glucose utilization and reduce anxiety in an adult nonhuman primate, the grey mouse lemur.

    Science.gov (United States)

    Pifferi, Fabien; Dorieux, Olène; Castellano, Christian-Alexandre; Croteau, Etienne; Masson, Marie; Guillermier, Martine; Van Camp, Nadja; Guesnet, Philippe; Alessandri, Jean-Marc; Cunnane, Stephen; Dhenain, Marc; Aujard, Fabienne

    2015-08-01

    Decreased brain content of DHA, the most abundant long-chain n-3 polyunsaturated fatty acid (n-3 LCPUFA) in the brain, is accompanied by severe neurosensorial impairments linked to impaired neurotransmission and impaired brain glucose utilization. In the present study, we hypothesized that increasing n-3 LCPUFA intake at an early age may help to prevent or correct the glucose hypometabolism observed during aging and age-related cognitive decline. The effects of 12 months' supplementation with n-3 LCPUFA on brain glucose utilization assessed by positron emission tomography was tested in young adult mouse lemurs (Microcebus murinus). Cognitive function was tested in parallel in the same animals. Lemurs supplemented with n-3 LCPUFA had higher brain glucose uptake and cerebral metabolic rate of glucose compared with controls in all brain regions. The n-3 LCPUFA-supplemented animals also had higher exploratory activity in an open-field task and lower evidence of anxiety in the Barnes maze. Our results demonstrate for the first time in a nonhuman primate that n-3 LCPUFA supplementation increases brain glucose uptake and metabolism and concomitantly reduces anxiety. Copyright © 2015 by the American Society for Biochemistry and Molecular Biology, Inc.

  1. Retinitis pigmentosa inversa with unilateral high myopia with fellow eye optic disc pitting.

    Science.gov (United States)

    Sheth, Saumil; Rush, Ryan; Narayanan, Raja

    2011-01-01

    To report a possible rare association of bilateral retinitis pigmentosa inversa (RPI) with unilateral high myopia with fellow eye optic disc pitting. A 55-year-old man with a history of reduced vision in the right eye since childhood presented with gradually decreasing vision in the left eye. On examination, a -23.00 diopter refractive error and diffuse chorioretinal atrophy consistent with pathologic myopia was found in the right eye. An optic disc pit with posterior pole pigmentary alterations thought to be consequent to a previous neurosensory detachment was found in the left eye. Though the retinal arteriolar attenuation seen in both eyes with an inconsistent history of night blindness since childhood pointed towards the possibility of a concurrently existing rod or rod-cone dystrophy, the posterior pole pigmentary alterations characteristic of RPI were clearly masked by the above pathologies. Optical coherence tomography demonstrated prominent foveal atrophy and an optic disc pit in the left eye. Electroretinography (ERG) demonstrated moderately attenuated amplitudes with prolonged implicit times of rod and cone responses bilaterally. The patient was diagnosed with bilateral RPI and anisometropic amblyopia in the right eye. This report documents a unique constellation of findings which include bilateral RPI and unilateral high myopia with an optic disc pit in the fellow eye. An ERG confirmation of a dystrophic etiology should be sought in suspicious cases, especially when findings are masked by the concurrent presence of other pathologies.

  2. Evidence for the involvement of ASIC3 in sensory mechanotransduction in proprioceptors

    Science.gov (United States)

    Lin, Shing-Hong; Cheng, Yuan-Ren; Banks, Robert W.; Min, Ming-Yuan; Bewick, Guy S.; Chen, Chih-Cheng

    2016-01-01

    Acid-sensing ion channel 3 (ASIC3) is involved in acid nociception, but its possible role in neurosensory mechanotransduction is disputed. We report here the generation of Asic3-knockout/eGFPf-knockin mice and subsequent characterization of heterogeneous expression of ASIC3 in the dorsal root ganglion (DRG). ASIC3 is expressed in parvalbumin (Pv+) proprioceptor axons innervating muscle spindles. We further generate a floxed allele of Asic3 (Asic3f/f) and probe the role of ASIC3 in mechanotransduction in neurite-bearing Pv+ DRG neurons through localized elastic matrix movements and electrophysiology. Targeted knockout of Asic3 disrupts spindle afferent sensitivity to dynamic stimuli and impairs mechanotransduction in Pv+ DRG neurons because of substrate deformation-induced neurite stretching, but not to direct neurite indentation. In behavioural tasks, global knockout (Asic3−/−) and Pv-Cre::Asic3f/f mice produce similar deficits in grid and balance beam walking tasks. We conclude that, at least in mouse, ASIC3 is a molecular determinant contributing to dynamic mechanosensitivity in proprioceptors. PMID:27161260

  3. Immune-Mediated Inner Ear Disease: Diagnostic and therapeutic approaches.

    Science.gov (United States)

    Penêda, José Ferreira; Lima, Nuno Barros; Monteiro, Francisco; Silva, Joana Vilela; Gama, Rita; Condé, Artur

    2018-03-07

    Immune Mediated Inner Ear Disease (IMIED) is a rare form of sensorineural bilateral hearing loss, usually progressing in weeks to months and responsive to immunosuppressive treatment. Despite recent advances, there is no consensus on diagnosis and optimal treatment. A review of articles on IMIED from the last 10 years was conducted using PubMed ® database. IMIED is a rare disease, mostly affecting middle aged women. It may be a primary ear disease or secondary to autoimmune systemic disease. A dual immune response (both cellular and humoral) seems to be involved. Cochlin may be the inner ear protein targeted in this disease. Distinction from other (core common) forms of neurosensory hearing loss is a challenge. Physical examination is mandatory for exclusion of other causes of hearing loss; audiometry identifies characteristic hearing curves. Laboratory and imaging studies are controversial since no diagnostic marker is available. Despite recent research, IMIED diagnosis remains exclusive. Steroids are the mainstay treatment; other therapies need further investigation. For refractory cases, cochlear implantation is an option and with good relative outcome. Copyright © 2018 Sociedad Española de Otorrinolaringología y Cirugía de Cabeza y Cuello. Publicado por Elsevier España, S.L.U. All rights reserved.

  4. Temporal auditory processing in elders

    Directory of Open Access Journals (Sweden)

    Azzolini, Vanuza Conceição

    2010-03-01

    Full Text Available Introduction: In the trial of aging all the structures of the organism are modified, generating intercurrences in the quality of the hearing and of the comprehension. The hearing loss that occurs in consequence of this trial occasion a reduction of the communicative function, causing, also, a distance of the social relationship. Objective: Comparing the performance of the temporal auditory processing between elderly individuals with and without hearing loss. Method: The present study is characterized for to be a prospective, transversal and of diagnosis character field work. They were analyzed 21 elders (16 women and 5 men, with ages between 60 to 81 years divided in two groups, a group "without hearing loss"; (n = 13 with normal auditive thresholds or restricted hearing loss to the isolated frequencies and a group "with hearing loss" (n = 8 with neurosensory hearing loss of variable degree between light to moderately severe. Both the groups performed the tests of frequency (PPS and duration (DPS, for evaluate the ability of temporal sequencing, and the test Randon Gap Detection Test (RGDT, for evaluate the temporal resolution ability. Results: It had not difference statistically significant between the groups, evaluated by the tests DPS and RGDT. The ability of temporal sequencing was significantly major in the group without hearing loss, when evaluated by the test PPS in the condition "muttering". This result presented a growing one significant in parallel with the increase of the age group. Conclusion: It had not difference in the temporal auditory processing in the comparison between the groups.

  5. Spectral Domain Optical Coherence Tomography Findings in Posterior Microphthalmia

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    Emine Tınkır Kayıtmazbatır

    2014-05-01

    Full Text Available The retinal spectral domain optical coherence tomography (SD-OCT findings of two posterior microphthalmia cases are presented in this case report. For this purpose, the findings of two siblings aged five and seven years who presented to our clinic with the complain of far-sightedness and high hypermetropia were evaluated. Both cases diagnosed to have posterior microphthalmia demonstrated normal biomicroscopic anterior segment examination and gonioscopy findings and the axial lengths were measured to be shorter than 17mm. The SD-OCT analysis of papillomacular folds detected in fundus examination revealed contribution of only neurosensorial retina. Beneath the retinal fold, we observed bilateral cysts in the intraretinal area in one of the cases and a triangle-shaped hyporeflective space with an apex corresponding to that of the retinal fold in the subretinal area in both cases. SD-OCT is an adjunctive imaging tool for diagnosis and follow-up of degenerative changes in posterior microphthalmia. These changes may be also important for visual prognosis. (Turk J Ophthalmol 2014; 44: 240-2

  6. Co-chaperone p23 regulates C. elegans Lifespan in Response to Temperature.

    Directory of Open Access Journals (Sweden)

    Makoto Horikawa

    2015-04-01

    Full Text Available Temperature potently modulates various physiologic processes including organismal motility, growth rate, reproduction, and ageing. In ectotherms, longevity varies inversely with temperature, with animals living shorter at higher temperatures. Thermal effects on lifespan and other processes are ascribed to passive changes in metabolic rate, but recent evidence also suggests a regulated process. Here, we demonstrate that in response to temperature, daf-41/ZC395.10, the C. elegans homolog of p23 co-chaperone/prostaglandin E synthase-3, governs entry into the long-lived dauer diapause and regulates adult lifespan. daf-41 deletion triggers constitutive entry into the dauer diapause at elevated temperature dependent on neurosensory machinery (daf-10/IFT122, insulin/IGF-1 signaling (daf-16/FOXO, and steroidal signaling (daf-12/FXR. Surprisingly, daf-41 mutation alters the longevity response to temperature, living longer than wild-type at 25°C but shorter than wild-type at 15°C. Longevity phenotypes at 25°C work through daf-16/FOXO and heat shock factor hsf-1, while short lived phenotypes converge on daf-16/FOXO and depend on the daf-12/FXR steroid receptor. Correlatively daf-41 affected expression of DAF-16 and HSF-1 target genes at high temperature, and nuclear extracts from daf-41 animals showed increased occupancy of the heat shock response element. Our studies suggest that daf-41/p23 modulates key transcriptional changes in longevity pathways in response to temperature.

  7. Dorsal onlay lingual mucosal graft urethroplasty for urethral strictures in women.

    Science.gov (United States)

    Sharma, Girish K; Pandey, Ashwani; Bansal, Harbans; Swain, Sameer; Das, Suren K; Trivedi, Sameer; Dwivedi, Udai S; Singh, Pratap B

    2010-05-01

    To describe the technique and results of dorsal onlay lingual mucosal graft (LMG) urethroplasty for the definitive management of urethral strictures in women. In all, 15 women (mean age 42 years) with a history suggestive of urethral stricture who had undergone multiple urethral dilatations and/or urethrotomy were selected for dorsal onlay LMG urethroplasty after thorough evaluation, from October 2006 to March 2008. After a suprameatal inverted-U incision, the dorsal aspect of the urethra was dissected and urethrotomy was done at the 12 o'clock position across the strictured segment. Tailored LMG harvested from the ventrolateral aspect of the tongue was then sutured to the urethrotomy wound over an 18 F silicone catheter. The preoperative mean maximum urinary flow rate of 7.2 mL/s increased to 29.87 mL/s, 26.95 mL/s and 26.86 mL/s with a 'normal' flow rate curve at 3, 6 and 12 months follow-up, respectively. One patient at the 3-month follow-up had submeatal stenosis and required urethral dilatation thrice at monthly intervals. At the 1-year follow-up, none of the present patients had any neurosensory complications, urinary incontinence, or long-term functional/aesthetic complication at the donor site. LMG urethroplasty using the dorsal onlay technique should be offered for correction of persistent female urethral stricture as it provides a simple, safe and effective approach with durable results.

  8. Impact of extreme prematurity on family functioning and maternal health 20 years later.

    Science.gov (United States)

    Saigal, Saroj; Pinelli, Janet; Streiner, David L; Boyle, Michael; Stoskopf, Barbara

    2010-07-01

    The goal was to examine the impact of illness on families and the long-term effects on the health of parents of young adults (YAs) who were born with extremely low birth weight (ELBW), compared with normal birth weight (NBW) control subjects. A longitudinal cohort study was performed. Participants were mothers of eligible ELBW and NBW YAs. Information was obtained with well-validated questionnaires. At young adulthood, 130 (81%) of 161 ELBW group and 126 (89%) of 141 NBW group mothers participated. There were no significant differences in scores between groups with respect to marital disharmony, family dysfunction, maternal mood, state anxiety, social support, depression, and maternal physical and mental health. The finding of no differences was unchanged when 27 YAs with neurosensory impairment (NSI) were excluded, except for family dysfunction scores, which were paradoxically lower for families with YAs with NSI. Although the impact scores revealed that significantly more parents of ELBW YAs were negatively affected with respect to their jobs and educational or training opportunities, mothers of ELBW YAs reported that the experience of caring for their child brought their family closer together and that relatives and friends were more helpful and understanding, compared with mothers of NBW YAs. Significantly more mothers of ELBW YAs with NSI, compared with those without NSI, felt better about themselves for having managed their child's health. It seems that, by young adulthood, there is a minimally negative long-term impact of having an ELBW child in the family, regardless of the presence of NSI.

  9. [Surgical managment of retinal detachment].

    Science.gov (United States)

    Haritoglou, C; Wolf, A

    2015-05-01

    The detachment of the neurosensory retina from the underlying retinal pigment epithelium can be related to breaks of the retina allowing vitreous fluid to gain access to the subretinal space, to exudative changes of the choroid such as tumours or inflammatory diseases or to excessive tractional forces exerted by interactions of the collagenous vitreous and the retina. Tractional retinal detachment is usually treated by vitrectomy and exudative detachment can be addressed by treatment of the underlying condition in many cases. In rhegmatogenous retinal detachment two different surgical procedures, vitrectomy and scleral buckling, can be applied for functional and anatomic rehabilitation of our patients. The choice of the surgical procedure is not really standardised and often depends on the experience of the surgeon and other more ocular factors including lens status, the number of retinal breaks, the extent of the detachment and the amount of preexisting PVR. Using both techniques, anatomic success rates of over 90 % can be achieved. Especially in young phakic patients scleral buckling offers the true advantage to prevent the progression of cataract formation requiring cataract extraction and intraocular lens implantation. Therefore, scleral buckling should be considered in selected cases as an alternative surgical option in spite of the very important technical refinements in modern vitrectomy techniques. Georg Thieme Verlag KG Stuttgart · New York.

  10. Early neurodevelopmental outcomes of extremely preterm infants.

    Science.gov (United States)

    Rogers, Elizabeth E; Hintz, Susan R

    2016-12-01

    Infants born at extreme preterm gestation are at risk for both death and disability. Although rates of survival have improved for this population, and some evidence suggests a trend toward decreased neuromotor impairment over the past decades, a significant improvement in overall early neurodevelopmental outcome has not yet been realized. This review will examine the rates and types of neurodevelopmental impairment seen after extremely preterm birth, including neurosensory, motor, cognitive, and behavioral outcomes. We focus on early outcomes in the first 18-36 months of life, as the majority of large neonatal studies examining neurodevelopmental outcomes stop at this age. However, this early age is clearly just a first glimpse into lifetime outcomes; the neurodevelopmental effects of extreme prematurity may last through school age, adolescence, and beyond. Importantly, prematurity appears to be an independent risk factor for adverse development, but this population demonstrates considerable variability in the types and severity of impairments. Understanding both the nature and prevalence of neurodevelopmental impairment among extremely preterm infants is important because it can lead to targeted interventions that in turn may lead to improved outcomes. Copyright © 2016 Elsevier Inc. All rights reserved.

  11. CENTRAL SEROUS CHORIORETINOPATHY IN POSTMENOPAUSAL WOMEN RECEIVING EXOGENOUS TESTOSTERONE.

    Science.gov (United States)

    Conway, Mandi D; Noble, Jason A; Peyman, Gholam A

    2017-01-01

    Central serous chorioretinopathy (CSR) is a serous detachment of the neurosensory retina commonly associated with male sex, Type-A personality and corticosteroid use. Exogenous administration of androgens and development of CSR in men has been reported. Only one case of CSR in a postmenopausal woman receiving exogenous androgen therapy has been reported. The authors describe three cases of chronic CSR in postmenopausal women receiving exogenous testosterone therapy. Diagnosis was based on characteristic clinical, fluorescein angiographic, and optical coherence tomography findings. The three women were being treated with exogenous testosterone and progesterone therapy for symptoms of menopause and libido loss. Average age at presentation was 54.7 years (53-56 years), average duration of exogenous androgen use was 61 months (36-87 months), with average 19.7-month follow-up. Resolution of symptoms seemed correlated with cessation of androgen use despite treatment with oscillatory photodynamic therapy and intravitreal pharmacotherapy with antivascular endothelial growth factor agents. Exogenous testosterone is increasingly prescribed for menopausal symptoms and libido loss. Treatment with oscillatory photodynamic therapy, supplemental bevacizumab intravitreal pharmacotherapy, and cessation of exogenous androgen therapy was successful in three cases of chronic, therapy-resistant CSR. Ophthalmologists should inquire about androgen usage in patients who present with CSR, especially in the setting of therapy resistance.

  12. Common oral complications of head and neck cancer radiation therapy: mucositis, infections, saliva change, fibrosis, sensory dysfunctions, dental caries, periodontal disease, and osteoradionecrosis.

    Science.gov (United States)

    Sroussi, Herve Y; Epstein, Joel B; Bensadoun, Rene-Jean; Saunders, Deborah P; Lalla, Rajesh V; Migliorati, Cesar A; Heaivilin, Natalie; Zumsteg, Zachary S

    2017-12-01

    Patients undergoing radiation therapy for the head and neck are susceptible to a significant and often abrupt deterioration in their oral health. The oral morbidities of radiation therapy include but are not limited to an increased susceptibility to dental caries and periodontal disease. They also include profound and often permanent functional and sensory changes involving the oral soft tissue. These changes range from oral mucositis experienced during and soon after treatment, mucosal opportunistic infections, neurosensory disorders, and tissue fibrosis. Many of the oral soft tissue changes following radiation therapy are difficult challenges to the patients and their caregivers and require life-long strategies to alleviate their deleterious effect on basic life functions and on the quality of life. We discuss the presentation, prognosis, and management strategies of the dental structure and oral soft tissue morbidities resulting from the administration of therapeutic radiation in head and neck patient. A case for a collaborative and integrated multidisciplinary approach to the management of these patients is made, with specific recommendation to include knowledgeable and experienced oral health care professionals in the treatment team. © 2017 The Authors. Cancer Medicine published by John Wiley & Sons Ltd.

  13. CRPS of the upper or lower extremity: surgical treatment outcomes

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    Rosson Gedge D

    2009-02-01

    Full Text Available Abstract The hypothesis is explored that CRPS I (the "new" RSD persists due to undiagnosed injured joint afferents, and/or cutaneous neuromas, and/or nerve compressions, and is, therefore, a misdiagnosed form of CRPS II (the "new" causalgia. An IRB-approved, retrospective chart review on a series of 100 consecutive patients with "RSD" identified 40 upper and 30 lower extremity patients for surgery based upon their history, physical examination, neurosensory testing, and nerve blocks. Based upon decreased pain medication usage and recovery of function, outcome in the upper extremity, at a mean of 27.9 months follow-up (range of 9 to 81 months, gave results that were excellent in 40% (16 of 40 patients, good in 40% (16 of 40 patients and failure 20% (8 of 40 patients. In the lower extremity, at a mean of 23.0 months follow-up (range of 9 to 69 months the results were excellent in 47% (14 of 30 patients, good in 33% (10 of 30 patients and failure 20% (6 of 30 patients. It is concluded that most patients referred with a diagnosis of CRPS I have continuing pain input from injured joint or cutaneous afferents, and/or nerve compressions, and, therefore, similar to a patient with CRPS II, they can be treated successfully with an appropriate peripheral nerve surgical strategy.

  14. iTRAQ Quantitative Proteomic Analysis of Vitreous from Patients with Retinal Detachment

    Directory of Open Access Journals (Sweden)

    Fátima Milhano Santos

    2018-04-01

    Full Text Available Rhegmatogenous retinal detachment (RRD is a potentially blinding condition characterized by a physical separation between neurosensory retina and retinal pigment epithelium. Quantitative proteomics can help to understand the changes that occur at the cellular level during RRD, providing additional information about the molecular mechanisms underlying its pathogenesis. In the present study, iTRAQ labeling was combined with two-dimensional LC-ESI-MS/MS to find expression changes in the proteome of vitreous from patients with RRD when compared to control samples. A total of 150 proteins were found differentially expressed in the vitreous of patients with RRD, including 96 overexpressed and 54 underexpressed. Several overexpressed proteins, several such as glycolytic enzymes (fructose-bisphosphate aldolase A, gamma-enolase, and phosphoglycerate kinase 1, glucose transporters (GLUT-1, growth factors (metalloproteinase inhibitor 1, and serine protease inhibitors (plasminogen activator inhibitor 1 are regulated by HIF-1, which suggests that HIF-1 signaling pathway can be triggered in response to RRD. Also, the accumulation of photoreceptor proteins, including phosducin, rhodopsin, and s-arrestin, and vimentin in vitreous may indicate that photoreceptor degeneration occurs in RRD. Also, the accumulation of photoreceptor proteins, including phosducin, rhodopsin, and s-arrestin, and vimentin in vitreous may indicate that photoreceptor degeneration occurs in RRD. Nevertheless, the differentially expressed proteins found in this study suggest that different mechanisms are activated after RRD to promote the survival of retinal cells through complex cellular responses.

  15. Fundus autofluorescence and optical coherence tomography in the management of progressive outer retinal necrosis

    Science.gov (United States)

    Yeh, Steven; Wong, Wai T.; Weichel, Eric D.; Lew, Julie C.; Chew, Emily Y.; Nussenblatt, Robert B.

    2011-01-01

    A 41 year-old female patient with acquired immune deficiency syndrome (AIDS) presented with progressive nasal visual field loss in her right eye. Ophthalmic exam revealed widespread areas of retinal opacification with hemorrhage consistent with progressive outer retinal necrosis (PORN), which was confirmed by polymerase chain reaction (PCR) for varicella zoster virus (VZV) DNA. The patient was treated with intravenous and intravitreal foscarnet and ganciclovir with a resultant improvement clinically. Optical coherence tomography (OCT) and fundus autofluorescence (FAF) imaging revealed progressive changes indicative of widespread retinal pigment epithelial (RPE) and outer retinal dysfunction. OCT was useful in documenting progressive changes in macular architecture during therapy including neurosensory elevation, cystoid macular edema, and severe outer retinal necrosis, at initial exam, 1 week, and 1 month follow-up. Fundus autofluorescence revealed areas of stippled, hyperfluorescence within extensive zones of hypofluorescence, which progressed during the follow-up period. These areas appeared to represent lipofuscin or its photoreactive components within larger regions of RPE loss. The combination of OCT and FAF was useful in the characterization of the RPE and retinal anatomy in this patient with PORN. PMID:20337261

  16. Congenital cytomegalovirus infection

    Directory of Open Access Journals (Sweden)

    Katarina Rednak-Paradiž

    2006-11-01

    Full Text Available Background: CMV is the most common agent that causes congenital virus infection. Only 10 % of infected children have symptomatic infection immediately after birth. Signs of central nervous system damage, neurosensory deafness and delayed psychomotor development may manifest as a result of asimptomatic congenital infection later in childhood. In the article we present basic properties of CMV; we describe clinical picture of the congenital infection and possibilities of diagnose and its treatment. We present five children with symptomatic congenital CMV infection that were hospitalized for the period 1992–2002 at the Neonatal department in the University Children’s Hospital in Ljubljana.Conclusions: Identification of infected neonates, especially those with asimptomatic congenital CMV infection, is difficult. Latest incidence of infection in Slovenia is unknown. With new investigations the efficiency of antiviral therapy was discovered but exact indications for therapy are not yet known. CMV vaccine, once available, may ultimately be the best control strategy for this important public health problem. Proper educating women in childbearing age about the risks of CMV and how to avoid disease transmission during pregnancy (hand washing, avoiding mouth-to-mouth contact with preschool children, usage of gloves especially when handling dipers or respiratory secretions are the only control strategies available.

  17. Modern diagnostic and treatment aspects of diabetic macular edema

    Directory of Open Access Journals (Sweden)

    Alexander Viktorovich Doga

    2014-10-01

    Full Text Available Diabetic macular oedema (DMO is the leading cause of vision loss and disability in working-age people with diabetes mellitus. This literature review describes pathogenetic mechanisms, concepts, diagnostic techniques and capabilities of novel laser technologies in the treatment of DMO. In recent years, the role of cytokines and growth factors in retinal neurodegeneration has been actively investigated. Modern diagnostic techniques for the treatment of diabetic macular oedema, in addition to conventional techniques, include optical coherence tomography, autofluorescence and microperimetry. These techniques allow the visualization of retinal structures and its functional condition, and they can be used to detect DMO at early stages and to provide the most effective treatment. The evolution of laser technology resulted in the formation of new approaches to DMO treatment. Subthreshold micropulse laser (SML treatment, in conjunction with conventional photocoagulation, has pronounced therapeutic effects. SML shows high selectivity towards retinal pigment epithelium while avoiding neurosensory retina injury. Owing to the chronic nature of DMO and pathogenetic mechanisms recently discovered, further elaboration of the SML technique appears to be a very promising treatment.

  18. Influence of regular proprioceptive and bioenergetic physical activities on balance control in elderly women.

    Science.gov (United States)

    Gauchard, Gérome C; Gangloff, Pierre; Jeandel, Claude; Perrin, Philippe P

    2003-09-01

    Balance disorders increase considerably with age due to a decrease in posture regulation quality, and are accompanied by a higher risk of falling. Conversely, physical activities have been shown to improve the quality of postural control in elderly individuals and decrease the number of falls. The aim of this study was to evaluate the impact of two types of exercise on the visual afferent and on the different parameters of static balance regulation. Static postural control was evaluated in 44 healthy women aged over 60 years. Among them, 15 regularly practiced proprioceptive physical activities (Group I), 12 regularly practiced bioenergetic physical activities (Group II), and 18 controls walked on a regular basis (Group III). Group I participants displayed lower sway path and area values, whereas Group III participants displayed the highest, both in eyes-open and eyes-closed conditions. Group II participants displayed intermediate values, close to those of Group I in the eyes-open condition and those of Group III in the eyes-closed condition. Visual afferent contribution was more pronounced for Group II and III participants than for Group I participants. Proprioceptive exercise appears to have the best impact on balance regulation and precision. Besides, even if bioenergetic activity improves postural control in simple postural tasks, more difficult postural tasks show that this type of activity does not develop a neurosensorial proprioceptive input threshold as well, probably on account of the higher contribution of visual afferent.

  19. Conference on the treatment of tinnitus and hyperacusis - Postponed

    CERN Multimedia

    GS Department

    2010-01-01

    Please note that the conference on the treatment of tinnitus and hyperacusis initially scheduled for Thursday, 3 March 2010 has been postponed to Monday, 2 May 2010 It will take place from 2.30 p.m. to 4.30 p.m. in the IT Auditorium - Building 31 3-004 Sylviane Chéry-Croze, Honorary Research Director at the CNRS and Ange Bidan, Vice-President of the French Association of Tinnitus Sufferers Do you suffer from tinnitus or hyperacusis? The CERN Medical Service and UNIQA Assurances SA, Geneva, invite you to a conference organised by the French Association of Tinnitus Sufferers. The conference will start with an introduction devoted to the destabilising experiences of people suffering from these symptoms and to the reactions that they induce. This introduction will be followed by a presentation of what are universally assumed in the medical research world to be the causes of the most frequently encountered forms of tinnitus (neurosensorial tinnitus). The presentation will also describe the mu...

  20. Conference on the treatment of tinnitus and hyperacusis

    CERN Multimedia

    GS Department

    2010-01-01

    Thursday, 4 March 2010 from 2.30 p.m. to 4.30 p.m. – Building 40 S2 A01 Sylviane Chéry-Croze, Honorary Research Director at the CNRS, and Ange Bidan, Vice-President of the French Association of Tinnitus Sufferers Do you suffer from tinnitus or hyperacusis? The CERN Medical Service and UNIQA Assurances SA, Geneva, invite you to a conference organised by the French Association of Tinnitus Sufferers. The conference will start with an introduction devoted to the destabilising experiences of people suffering from these symptoms and to the reactions that they induce. This introduction will be followed by a presentation of what are universally assumed in the medical research world to be the causes of the most frequently encountered forms of tinnitus (neurosensorial tinnitus). The presentation will also describe the multidisciplinary treatment that is currently regarded as the most effective means of initially managing the symptoms and then of eliminating them and that similarly targets th...

  1. Conference on the treatment of tinnitus and hyperacusis

    CERN Multimedia

    GS Department

    2010-01-01

    Monday 3 May 2010 from 2.30 p.m. to 4.30 p.m IT Auditorium - Bldg. 31-3-004 Sylviane Chéry-Croze, Honorary Research Director at the CNRS and Ange Bidan, Vice-President of the French Association of Tinnitus Sufferers Do you suffer from tinnitus or hyperacusis? The CERN Medical Service and UNIQA Assurances SA, Geneva, invite you to a conference organised by the French Association of Tinnitus Sufferers. The conference will start with an introduction devoted to the destabilising experiences of people suffering from these symptoms and to the reactions that they induce. This introduction will be followed by a presentation of what are universally assumed in the medical research world to be the causes of the most frequently encountered forms of tinnitus (neurosensorial tinnitus). The presentation will also describe the multidisciplinary treatment that is currently regarded as the most effective means of initially managing the symptoms and then of eliminating them and that similarly targets these ass...

  2. [Cryopyrine-associated periodic syndrome: CAPS seen from adulthood].

    Science.gov (United States)

    Koné-Paut, I

    2015-04-01

    Cryopyrin-associated periodic syndrome is a rare hereditary periodic fever syndrome for which, the genetic mechanism, mutation in the NLRP3 gene, has allowed to gather 3 clinical phenotypes (familial cold urticaria [FCAS], Muckle-Wells syndrome [MWS], and chronic infantile neurological cutaneous and articular syndrome [CINCA]) initially described independently, and to discover the NLRP3 inflammasome, a key receptor of the innate immunity, which regulates the interleukine-1β secretion into the mononuclear cells. The clinical manifestation of CAPS : urticaria-like skin rash, eyes redness, myalgia and sensory deafness are not specific, if considered separately, and that often leads to a wandering diagnosis through a complex medical journey including various specialists. The diagnostic delay is deleterious to patients compromising their quality of life and exposing them to neurosensory complications and renal failure by secondary amyloidosis. The paediatric onset of disease, the family history, the trigger of symptoms by the cold, and the recognition of the skin rash as neutrophilic are important clues before diagnostic confirmation by genetic testing. Interleukine-1 blockade is the only effective treatment of CAPS symptoms which often may stabilize (rarely regression) the sensory involvement and in some cases may allow the regression of secondary amyloidosis. Copyright © 2014 Société nationale française de médecine interne (SNFMI). Published by Elsevier SAS. All rights reserved.

  3. Four USH2A founder mutations underlie the majority of Usher syndrome type 2 cases among non-Ashkenazi Jews.

    Science.gov (United States)

    Auslender, Noa; Bandah, Dikla; Rizel, Leah; Behar, Doron M; Shohat, Mordechai; Banin, Eyal; Allon-Shalev, Stavit; Sharony, Reuven; Sharon, Dror; Ben-Yosef, Tamar

    2008-06-01

    Type 2 Usher syndrome (USH2) is a recessively inherited disorder, characterized by the combination of early onset, moderate-to-severe, sensorineural hearing loss, and vision impairment due to retinitis pigmentosa. From 74% to 90% of USH2 cases are caused by mutations of the USH2A gene. USH2A is composed of 72 exons, encoding for usherin, an extracellular matrix protein, which plays an important role in the development and maintenance of neurosensory cells in both retina and cochlea. To date, over 70 pathogenic mutations of USH2A have been reported in individuals of various ethnicities. Many of these mutations are rare private mutations segregating in single families. The aim of the current work was to investigate the genetic basis for USH2 among Jews of various origins. We found that four USH2A mutations (c.239-240insGTAC, c.1000C>T, c.2209C>T, and c.12067-2A>G) account for 64% of mutant alleles underlying USH2 in Jewish families of non-Ashkenazi descent. Considering the very large size of the USH2A gene and the high number of mutations detected in USH2 patients worldwide, our findings have significant implications for genetic counseling and carrier screening in various Jewish populations.

  4. Do preterm infants with a birth weight ≤1250 g born to single-parent families have poorer neurodevelopmental outcomes at age 3 than those born to two-parent families?

    Science.gov (United States)

    Lodha, Abhay; Lakhani, Jahan; Ediger, Krystyna; Tang, Selphee; Lodha, Arijit; Gandhi, Vardhil; Creighton, Dianne

    2018-05-08

    Investigate neurodevelopmental outcomes at 3 years corrected age in infants with a birth weight ≤1250 g born to single parents. Infants born between 1995 and 2010 with a birth weight ≤1250 g were considered eligible. Primary outcome was neurodevelopmental impairment; considered present if a child had any of the following: cerebral palsy, cognitive delay, visual impairment, or deafness/neurosensory hearing impairment. Univariate and multivariate analyses were performed. A total of 1900 infants were eligible for inclusion. Follow-up data were available for 1395; 88 were born to a single parent. Infants in the single-parent group had higher mortality (18% vs. 11%, p = 0.009), IQ ≥1 SD below the mean (40% vs. 21%, p = 0.001) and any neurodevelopmental impairment (47% vs. 29%, p = 0.003). Single-parent family status, maternal education, bronchopulmonary dysplasia and severe neurological injury were significant predictors of intellectual impairment at 3 years corrected age. Preterm infants with a birth weight ≤1250 g born to single parents at birth have poorer intellectual functioning at 3 years corrected age.

  5. Antenatal magnesium individual participant data international collaboration: assessing the benefits for babies using the best level of evidence (AMICABLE

    Directory of Open Access Journals (Sweden)

    2012-03-01

    Full Text Available Abstract Background The primary aim of this study is to assess, using individual participant data (IPD meta-analysis, the effects of administration of antenatal magnesium sulphate given to women at risk of preterm birth on important clinical outcomes for their child such as death and neurosensory disability. The secondary aim is to determine whether treatment effects differ depending on important pre-specified participant and treatment characteristics, such as reasons at risk of preterm birth, gestational age, or type, dose and mode of administration of magnesium sulphate. Methods Design The Antenatal Magnesium Individual Participant Data (IPD International Collaboration: assessing the benefits for babies using the best level of evidence (AMICABLE Group will perform an IPD meta-analysis to answer these important clinical questions. Setting/Timeline The AMICABLE Group was formed in 2009 with data collection commencing late 2010. Inclusion Criteria Five trials involving a total 6,145 babies are eligible for inclusion in the IPD meta-analysis. Primary study outcomes For the infants/children: Death or cerebral palsy. For the women: Any severe maternal outcome potentially related to treatment (death, respiratory arrest or cardiac arrest. Discussion Results are expected to be publicly available in 2012.

  6. Influence of skin cold sensation threshold in the occurrence of dental sensitivity during dental bleaching: a placebo controlled clinical trial.

    Science.gov (United States)

    Rahal, Vanessa; Gallinari, Marjorie de Oliveira; Barbosa, Juliana Stuginski; Martins-Junior, Reynaldo Leite; Santos, Paulo Henrique Dos; Cintra, Luciano Tavares Angelo; Briso, André Luiz Fraga

    2018-01-18

    This study verified the occurrence of dental sensitivity in patients submitted to a 35% hydrogen peroxide based product (Whiteness HP Maxx 35% - FGM), skin cold sensation threshold (SCST) and its influence on dental sensitivity. Sixty volunteers were divided into 4 groups (n = 15), according to SCST (low: GI and GIII, and high: GII and IV) and bleaching treatment (hydrogen peroxide: GI and GII, and placebo: GIII and GIV). SCST was determined in the inner forearm for 6 different times using a neurosensory analyzer, the TSA II (Medoc Advanced Medical Systems, Ramat Yishai, Northern District, Israel). Dental sensitivity measurements were performed 10 different times using a thermal stimulus and an intraoral device attached to TSA II, positioned in the buccal surface of the upper right central incisor. Spontaneous dental sensitivity was also determined using the Visual Analogue Scale (VAS). Data were submitted to Student's t-test and Pearson's Correlation Test (α=0.05). SCST remained the same during bleaching treatment. Distinct responses of dental sensitivity were found in patients with low and high SCST during the first and third bleaching session (p≤0.05). The teeth submitted to the bleaching treatment became more sensitive to cold than those treated with placebo. Moreover, data obtained with TSA and VAS presented moderate correlation. Bleaching treatment increased dental sensitivity and skin cold sensation threshold might represent a determining factor in this occurrence, since low and high SCST patients had different responses to the thermal stimulus in the teeth.

  7. Declines in arrestin and rhodopsin in the macula with progression of age-related macular degeneration.

    Science.gov (United States)

    Ethen, Cheryl M; Feng, Xiao; Olsen, Timothy W; Ferrington, Deborah A

    2005-03-01

    Biochemical analysis of age-related macular degeneration (AMD) at distinct stages of the disease will help further understanding of the molecular events associated with disease progression. This study was conducted to determine the ability of a new grading system for eye bank eyes, the Minnesota Grading System (MGS), to discern distinct stages of AMD so that retinal region-specific changes in rod photoreceptor protein expression from donors could be determined. Donor eyes were assigned to a specific level of AMD by using the MGS. Expression of the rod photoreceptor proteins rhodopsin and arrestin was evaluated by Western immunoblot analysis in the macular and peripheral regions of the neurosensory retina from donors at different stages of AMD. A significant linear decline in both arrestin and rhodopsin content correlated with progressive MGS levels in the macula. In contrast, the peripheral region showed no significant correlation between MGS level and the content of either protein. The statistically significant relationship between decreasing macular rod photoreceptor proteins and progressive MGS levels of AMD demonstrates the utility of the clinically based MGS to correspond with specific protein changes found at known, progressive stages of degeneration. Future biochemical analysis of clinically characterized donor eyes will further understanding of the pathobiochemistry of AMD.

  8. Gross and fine dissection of inner ear sensory epithelia in adult zebrafish (Danio rerio).

    Science.gov (United States)

    Liang, Jin; Burgess, Shawn M

    2009-05-08

    Neurosensory epithelia in the inner ear are the crucial structures for hearing and balance functions. Therefore, it is important to understand the cellular and molecular features of the epithelia, which are mainly composed of two types of cells: hair cells (HCs) and supporting cells (SCs). Here we choose to study the inner ear sensory epithelia in adult zebrafish not only because the epithelial structures are highly conserved in all vertebrates studied, but also because the adult zebrafish is able to regenerate HCs, an ability that mammals lose shortly after birth. We use the inner ear of adult zebrafish as a model system to study the mechanisms of inner ear HC regeneration in adult vertebrates that could be helpful for clinical therapy of hearing/balance deficits in human as a result of HC loss. Here we demonstrate how to do gross and fine dissections of inner ear sensory epithelia in adult zebrafish. The gross dissection removes the tissues surrounding the inner ear and is helpful for preparing tissue sections, which allows us to examine the detailed structure of the sensory epithelia. The fine dissection cleans up the non-sensory-epithelial tissues of each individual epithelium and enables us to examine the heterogeneity of the whole epithelium easily in whole-mount epithelial samples.

  9. The Neural Retina in Retinopathy of Prematurity

    Science.gov (United States)

    Hansen, Ronald M.; Moskowitz, Anne; Akula, James D.; Fulton, Anne B.

    2016-01-01

    Retinopathy of prematurity (ROP) is a neurovascular disease that affects prematurely born infants and is known to have significant long term effects on vision. We conducted the studies described herein not only to learn more about vision but also about the pathogenesis of ROP. The coincidence of ROP onset and rapid developmental elongation of the rod photoreceptor outer segments motivated us to consider the role of the rods in this disease. We used noninvasive electroretinographic (ERG), psychophysical, and retinal imaging procedures to study the function and structure of the neurosensory retina. Rod photoreceptor and post-receptor responses are significantly altered years after the preterm days during which ROP is an active disease. The alterations include persistent rod dysfunction, and evidence of compensatory remodeling of the post-receptor retina is found in ERG responses to full-field stimuli and in psychophysical thresholds that probe small retinal regions. In the central retina, both Mild and Severe ROP delay maturation of parafoveal scotopic thresholds and are associated with attenuation of cone mediated multifocal ERG responses, significant thickening of post-receptor retinal laminae, and dysmorphic cone photoreceptors. These results have implications for vision and control of eye growth and refractive development and suggest future research directions. These results also lead to a proposal for noninvasive management using light that may add to the currently invasive therapeutic armamentarium against ROP. PMID:27671171

  10. Mechanoreceptors of the Achilles tendon: a histomorphological study in pigs with clinical significance for humans.

    Science.gov (United States)

    Kapetanakis, Stylianos; Gkasdaris, Grigorios; Daneva, Eleni; Givissis, Panagiotis; Papathanasiou, Jannis; Xanthos, Theodoros

    2017-01-01

    Tendons contain neurosensory elements called mechanoreceptors which contribute to the neuromuscular system as sources of reflex signals. The literature is lacking in histological assessment of mechanoreceptors of the Achilles tendon in piglets and our aim was to indicate their types, location and quantity. The study was performed using histological tissue samples from the Achilles tendon of ten healthy pigs, five left, five right, six males, four females. The samples were taken up to 12 hours after death. Immediately after removal, the tendons were placed in the laboratory where sections were taken and examined microscopically. The tendons were stained with the gold chloride method. The results showed that Golgi tendon organs, free nerve endings and Pacinian-like corpuscles were found in the Achilles tendon of pigs. Most structures were near the osteotendinous and myotendinous junctions, away from the middle portion of the tendon. As shown in other studies and similarly in ours, mechanoreceptors tend to be close to the distant thirds and not in the middle third of the tendon. This study could have clinical application on human Achilles tendon and its repair after damage. IV.

  11. High-risk populations identified in Childhood Cancer Survivor Study investigations: implications for risk-based surveillance.

    Science.gov (United States)

    Hudson, Melissa M; Mulrooney, Daniel A; Bowers, Daniel C; Sklar, Charles A; Green, Daniel M; Donaldson, Sarah S; Oeffinger, Kevin C; Neglia, Joseph P; Meadows, Anna T; Robison, Leslie L

    2009-05-10

    Childhood cancer survivors often experience complications related to cancer and its treatment that may adversely affect quality of life and increase the risk of premature death. The purpose of this manuscript is to review how data derived from Childhood Cancer Survivor Study (CCSS) investigations have facilitated identification of childhood cancer survivor populations at high risk for specific organ toxicity and secondary carcinogenesis and how this has informed clinical screening practices. Articles previously published that used the resource of the CCSS to identify risk factors for specific organ toxicity and subsequent cancers were reviewed and results summarized. CCSS investigations have characterized specific groups to be at highest risk of morbidity related to endocrine and reproductive dysfunction, pulmonary toxicity, cerebrovascular injury, neurologic and neurosensory sequelae, and subsequent neoplasms. Factors influencing risk for specific outcomes related to the individual survivor (eg, sex, race/ethnicity, age at diagnosis, attained age), sociodemographic status (eg, education, household income, health insurance) and cancer history (eg, diagnosis, treatment, time from diagnosis) have been consistently identified. These CCSS investigations that clarify risk for treatment complications related to specific treatment modalities, cumulative dose exposures, and sociodemographic factors identify profiles of survivors at high risk for cancer-related morbidity who deserve heightened surveillance to optimize outcomes after treatment for childhood cancer.

  12. Inferior Alveolar Nerve Injury after Mandibular Third Molar Extraction: a Literature Review

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    Rafael Sarikov

    2014-12-01

    Full Text Available Objectives: The purpose of this study was to systematically review the comprehensive overview of literature data about injury to the inferior alveolar nerve after lower third molar extraction to discover the prevalence of injury, the risk factors, recovery rates, and alternative methods of treatment. Material and Methods: Literature was selected through a search of PubMed electronic databases. Articles from January 2009 to June 2014 were searched. English language articles with a minimum of 6 months patient follow-up and injury analysis by patient’s reporting, radiographic, and neurosensory testing were selected. Results: In total, 84 literature sources were reviewed, and 14 of the most relevant articles that are suitable to the criteria were selected. Articles were analyzed on men and women. The influence of lower third molar extraction (especially impacted on the inferior alveolar nerve was clearly seen. Conclusions: The incidence of injury to the inferior alveolar nerve after lower third molar extraction was about 0.35 - 8.4%. The injury of the inferior alveolar nerve can be predicted by various radiological signs. There are few risk factors that may increase the risk of injury to the nerve such as patients over the age of 24 years old, with horizontal impactions, and extraction by trainee surgeons. Recovery is preferable and permanent injury is very rare.

  13. Astrocytic actions on extrasynaptic neuronal currents

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    Balazs ePal

    2015-12-01

    Full Text Available In the last few decades, knowledge about astrocytic functions has significantly increased. It was demonstrated that astrocytes are not passive elements of the central nervous system, but active partners of neurons. There is a growing body of knowledge about the calcium excitability of astrocytes, the actions of different gliotransmitters and their release mechanisms, as well as the participation of astrocytes in the regulation of synaptic functions and their contribution to synaptic plasticity. However, astrocytic functions are even more complex than being a partner of the 'tripartite synapse', as they can influence extrasynaptic neuronal currents either by releasing substances or regulating ambient neurotransmitter levels. Several types of currents or changes of membrane potential with different kinetics and via different mechanisms can be elicited by astrocytic activity. Astrocyte-dependent phasic or tonic, inward or outward currents were described in several brain areas. Such currents, together with the synaptic actions of astrocytes, can contribute to neuromodulatory mechanisms, neurosensory and –secretory processes, cortical oscillatory activity, memory and learning or overall neuronal excitability. This mini-review is an attempt to give a brief summary of astrocyte-dependent extrasynaptic neuronal currents and their possible functional significance.

  14. Genetic basis of hearing loss in Spanish, Hispanic and Latino populations.

    Science.gov (United States)

    Mittal, Rahul; Patel, Amit P; Nguyen, Desiree; Pan, Debbie R; Jhaveri, Vasanti M; Rudman, Jason R; Dharmaraja, Arjuna; Yan, Denise; Feng, Yong; Chapagain, Prem; Lee, David J; Blanton, Susan H; Liu, Xue Zhong

    2018-03-20

    Hearing loss (HL) is the most common neurosensory disorder affecting humans. The screening, prevention and treatment of HL require a better understanding of the underlying molecular mechanisms. Genetic predisposition is one of the most common factors that leads to HL. Most HL studies include few Spanish, Hispanic and Latino participants, leaving a critical gap in our understanding about the prevalence, impact, unmet health care needs, and genetic factors associated with hearing impairment among Spanish, Hispanic and Latino populations. The few studies which have been performed show that the gene variants commonly associated with HL in non-Spanish and non-Hispanic populations are infrequently responsible for hearing impairment in Spanish as well as Hispanic and Latino populations (hereafter referred to as Hispanic). To design effective screening tools to detect HL in Spanish and Hispanic populations, studies must be conducted to determine the gene variants that are most commonly associated with hearing impairment in this racial/ethnic group. In this review article, we summarize gene variants and loci associated with HL in Spanish and Hispanic populations. Identifying new genetic variants associated with HL in Spanish and Hispanic populations will pave the way to develop effective screening tools and therapeutic strategies for HL. Copyright © 2018 Elsevier B.V. All rights reserved.

  15. Evidence-based outcomes following inferior alveolar and lingual nerve injury and repair: a systematic review.

    Science.gov (United States)

    Kushnerev, E; Yates, J M

    2015-10-01

    The inferior alveolar nerve (IAN) and lingual (LN) are susceptible to iatrogenic surgical damage. Systematically review recent clinical evidence regarding IAN/LN repair methods and to develop updated guidelines for managing injury. Recent publications on IAN/LN microsurgical repair from Medline, Embase and Cochrane Library databases were screened by title/abstract. Main texts were appraised for exclusion criteria: no treatment performed or results provided, poor/lacking procedural description, cohort nerve recovery occurred after direct apposition and suturing if nerve ending gaps were nerve grafting (sural/greater auricular nerve). Timing of microneurosurgical repair after injury remains debated. Most authors recommend surgery when neurosensory deficit shows no improvement 90 days post-diagnosis. Nerve transection diagnosed intra-operatively should be repaired in situ; minor nerve injury repair can be delayed. No consensus exists regarding optimal methods and timing for IAN/LN repair. We suggest a schematic guideline for treating IAN/LN injury, based on the most current evidence. We acknowledge that additional RCTs are required to provide definitive confirmation of optimal treatment approaches. © 2015 John Wiley & Sons Ltd.

  16. Evaluation of the accuracy of linear measurements on multi-slice and cone beam computed tomography scans to detect the mandibular canal during bilateral sagittal split osteotomy of the mandible.

    Science.gov (United States)

    Freire-Maia, B; Machado, V deC; Valerio, C S; Custódio, A L N; Manzi, F R; Junqueira, J L C

    2017-03-01

    The aim of this study was to compare the accuracy of linear measurements of the distance between the mandibular cortical bone and the mandibular canal using 64-detector multi-slice computed tomography (MSCT) and cone beam computed tomography (CBCT). It was sought to evaluate the reliability of these examinations in detecting the mandibular canal for use in bilateral sagittal split osteotomy (BSSO) planning. Eight dry human mandibles were studied. Three sites, corresponding to the lingula, the angle, and the body of the mandible, were selected. After the CT scans had been obtained, the mandibles were sectioned and the bone segments measured to obtain the actual measurements. On analysis, no statistically significant difference was found between the measurements obtained through MSCT and CBCT, or when comparing the measurements from these scans with the actual measurements. It is concluded that the images obtained by CT scan, both 64-detector multi-slice and cone beam, can be used to obtain accurate linear measurements to locate the mandibular canal for preoperative planning of BSSO. The ability to correctly locate the mandibular canal during BSSO will reduce the occurrence of neurosensory disturbances in the postoperative period. Copyright © 2016 International Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.

  17. Efectos del contacto piel con piel del recién nacido con su madre

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    Camila Lucchini Raies

    Full Text Available Antecedentes: el contacto piel con piel ha sido una práctica ancestral en toda cultura, que debido a la institucionalización de la atención del parto, disminuyó en occidente. Se retomó en el marco de la atención humanizada del parto. Objetivo principal: determinar los efectos del contacto piel con piel del recién nacido con su madre. Metodología: revisión bibliográfica de 26 estudios. Límites de búsqueda: new borns, humans, clinical trials, de 10 años de publicación, en bases de datos: Pubmed, ProQuest, CINHAL, Lilacs. Resultados principales: Se observaron beneficios en las variables: duración de lactancia materna, comportamiento neurosensorial, regulación de temperatura, como alternativa al cuidado estándar, disminución en días hospitalización y niveles de cortisol, favorecedor de la interacción madre-hijo y desarrollo infantil. Conclusión principal: el contacto piel con piel brinda múltiples beneficios a recién nacidos. Se presenta como alternativa de cuidado segura, factible de implementar.

  18. A new mutation in WFS1 gene (C.1522-1523delTA, Y508fsX421) may be responsible for early appearance of clinical features of Wolfram syndrome and suicidal behaviour.

    Science.gov (United States)

    Aluclu, Mehmet Ufuk; Bahceci, Mithat; Tuzcu, Alpaslan; Arikan, Senay; Gokalp, Deniz

    2006-12-01

    Wolfram syndrome (WS) is an autosomal recessive disorder characterized by the association of juvenile-onset diabetes mellitus and optic atrophy. It is also known by the acronym DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness). We diagnosed Wolfram syndrome in 2 male siblings and determined a new mutation (c. 1522-1523delTA, Y508fsX421). Both affected siblings were homozygous, other family members were heterozygous. Dilated renal outflow tracts in the third decade, and neuropsychiatric disorders including bipolar disorder and neurosensorial deafness appear in the fourth decade in ordinary WS, whereas these features appeared in second decade in our patients. This mutation may be responsible for early appearance of dilated renal outflow tracts and multiple neurological abnormalities. Psychiatric disturbances such as suicide were reported at increased frequency in Wolfram patients and in heterozygous carriers. Suicidal behaviour occurred in our patients when they were yet 11 and 13 years old. Therefore, our findings may indicate that there may be a relationship between this WFS1 mutation and mood disorder such as suicidal behaviour. We determined a new mutation (c. 1522-1523delTA, Y508fsX421) in WS1 gene in 2 siblings with Wolfram syndrome. This mutation may be responsible for early appearance of clinical features of Wolfram syndrome, and there may be a relationship between this mutation and suicidal behaviour.

  19. Cognitive and neuropsychological outcomes: more than IQ scores.

    Science.gov (United States)

    Aylward, Glen P

    2002-01-01

    Improved survival in preterm infants has broadened interest in cognitive and neuropsychological outcomes. The incidence of major disabilities (moderate/severe mental retardation, neurosensory disorders, epilepsy, cerebral palsy) has remained consistent, but high prevalence/low severity dysfunctions (learning disabilities, ADHD, borderline mental retardation, specific neuropsychological deficits, behavioral disorders) have increased. The follow-up literature contains methodologic problems that make generalizations regarding outcome difficult, and these are discussed. Although mean IQs of former VLBW infants generally are in the low average range and are 3-9 points below normal birth weight peers, these scores mask subtle deficits in: visual-motor and visual-perceptual abilities, complex language functions, academics (reading, mathematics, spelling and writing), and attentional skills. There is an increased incidence of non-verbal learning disabilities, need for special educational assistance, and behavioral disorders in children born prematurely. Males have more problems, and there is a trend for worsening outcome over time, due to emergence of more subtle deficits in response to increased performance demands. In addition to IQ and achievement testing in follow-up, there should be evaluation of executive functions and attention, language, sensorimotor functions, visuospatial processes, memory and learning, and behavioral adjustment. Copyright 2002 Wiley-Liss, Inc.

  20. Clinical analysis of intravitreal injection of triamcinolone acetonide combined macular grid photocoagulation treatment for macular edema

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    Xian-Hua Jing

    2014-10-01

    Full Text Available AIM: To investigate the clinical efficacy and safety of intravitreal injection of triamcinolone combined macular grid photocoagulation treatment for macular edema. METHODS: Totally 150 cases(150 eyeswith macular edema in our hospital from July 2009 to November 2013 were selected, which were randomly divided into study group(75 cases, 75 eyesand control group(75 cases, 75 eyes. The cases in control group were treated with macular grid photocoagulation treatment, those in the study group used triamcinolone acetonide combined macular grid photocoagulation treatment. Best corrected visual acuity(BCVA, parallel optical coherence tomography(OCTand fundus fluorescein angiography(FFAwere detected before treatment, after treatment 7d, 1, 3, and 9mo. RESULTS:After the treatment, patients' vision were significantly improved in two groups(PPPP>0.05. Fovea macular neurosensory retinal thickness in the study group was significantly lower than that in control group(PCONCLUSION: Triamcinolone acetonide combined macular grid photocoagulation treatment is accurate, can effectively improve the visual acuity, reduce macular edema, it is safe and reliable, and suitable for clinical application.

  1. TFOS DEWS II Definition and Classification Report.

    Science.gov (United States)

    Craig, Jennifer P; Nichols, Kelly K; Akpek, Esen K; Caffery, Barbara; Dua, Harminder S; Joo, Choun-Ki; Liu, Zuguo; Nelson, J Daniel; Nichols, Jason J; Tsubota, Kazuo; Stapleton, Fiona

    2017-07-01

    The goals of the TFOS DEWS II Definition and Classification Subcommittee were to create an evidence-based definition and a contemporary classification system for dry eye disease (DED). The new definition recognizes the multifactorial nature of dry eye as a disease where loss of homeostasis of the tear film is the central pathophysiological concept. Ocular symptoms, as a broader term that encompasses reports of discomfort or visual disturbance, feature in the definition and the key etiologies of tear film instability, hyperosmolarity, and ocular surface inflammation and damage were determined to be important for inclusion in the definition. In the light of new data, neurosensory abnormalities were also included in the definition for the first time. In the classification of DED, recent evidence supports a scheme based on the pathophysiology where aqueous deficient and evaporative dry eye exist as a continuum, such that elements of each are considered in diagnosis and management. Central to the scheme is a positive diagnosis of DED with signs and symptoms, and this is directed towards management to restore homeostasis. The scheme also allows consideration of various related manifestations, such as non-obvious disease involving ocular surface signs without related symptoms, including neurotrophic conditions where dysfunctional sensation exists, and cases where symptoms exist without demonstrable ocular surface signs, including neuropathic pain. This approach is not intended to override clinical assessment and judgment but should prove helpful in guiding clinical management and research. Copyright © 2017 Elsevier Inc. All rights reserved.

  2. The role of 3D plating system in mandibular fractures: A prospective study

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    Rajendra Prasad

    2013-01-01

    Full Text Available Aim: The aim of our study was to evaluate the advantages and disadvantages of 3D plating system in the treatment of mandibular fractures. Patients and Methods: 20 mandibular fractures in 18 patients at various anatomic locations and were treated by open reduction and internal fixation using 3D plates. All patients were followed at regular intervals of 4 th , 8 th and 12 th weeks respectively. Patients were assessed post-operatively for lingual splay and occlusal stability. The incidence of neurosensory deficit, infection, masticatory difficulty, non-union, malunion was also assessed. Results: A significant reduction in lingual splay (72.2% and occlusal stability (72.2% was seen. The overall complication rate was (16.6% which included two patients who developed post-operative paresthesia of lip, three patients had infection and two cases of masticatory difficulty which later subsided by higher antibiotics and 4 weeks of MMF. No evidence of non-union, malunion was noted. Conclusion: A single 3D 2 mm miniplate with 2 mm × 8 mm screws is a reliable and an effective treatment modality for mandibular fracture.

  3. Effect of infrared laser in the prevention and treatment of paresthesia in orthognathic surgery.

    Science.gov (United States)

    Prazeres, Lady Dayane Kalline Travassos; Muniz, Yuri Victor Siqueira; Barros, Keylla Marinho Albuquerque; Gerbi, Marleny Elizabeth Marquez de Martinez; Laureano Filho, José Rodrigues

    2013-05-01

    Orthognathic surgery is the surgical procedure that makes correcting deformities of the bones in the region of the maxilla and mandible a reality in the Brazilian dentistry. However, this type of surgery usually involves paresthesia in the postoperative period, concerning the surgeons who perform them and generating discomfort to patients. This study aimed at evaluating the effect of infrared laser (830 nm) in the prevention and treatment of paresthesias after orthognathic surgery. Six patients underwent orthognathic surgery: the experimental group composed of 4 patients and the control group that did not receive laser therapy composed of 2 patients. The experimental group received laser applications during the transoperative and 12 postoperative sessions. Tests for mechanical (deep and shallow) and thermal (cold) sensitivity were performed in the preoperative and postoperative period (during 12 sessions) in the lip and chin areas by the same operator. The paresthesia was classified into 1, strong; 2, moderate; 3, mild; and 4, absent, through the patient's response to stimuli. The results showed that all patients had no disturbance of sensitivity in the preoperative period, but paresthesia was presented at various levels in the postoperative period. Both groups showed recovery of deep mechanical sensitivity within a shorter time interval compared with the superficial mechanical and thermal sensitivity. However, at the 12th assessment, patients who underwent the laser therapy showed better reduction in the level of paresthesia or even complete regression of this. The laser, therefore, brought benefits to the treatment of paresthesia, accelerating the return of neurosensorial sensitivity.

  4. Cholesterol and ocular pathologies: focus on the role of cholesterol-24S-hydroxylase in cholesterol homeostasis

    Directory of Open Access Journals (Sweden)

    Fourgeux Cynthia

    2015-03-01

    Full Text Available The retina is responsible for coding the light stimulus into a nervous signal that is transferred to the brain via the optic nerve. The retina is formed by the association of the neurosensory retina and the retinal pigment epithelium that is supported by Bruch’s membrane. Both the physical and metabolic associations between these partners are crucial for the functioning of the retina, by means of nutrient intake and removal of the cell and metabolic debris from the retina. Dysequilibrium are involved in the aging processes and pathologies such as age-related macular degeneration, the leading cause of visual loss after the age of 50 years in Western countries. The retina is composed of several populations of cells including glia that is involved in cholesterol biosynthesis. Cholesterol is the main sterol in the retina. It is present as free form in cells and as esters in Bruch’s membrane. Accumulation of cholesteryl esters has been associated with aging of the retina and impairment of the retinal function. Under dietary influence and in situ synthesized, the metabolism of cholesterol is regulated by cell interactions, including neurons and glia via cholesterol-24S-hydroxylase. Several pathophysiological associations with cholesterol and its metabolism can be suggested, especially in relation to glaucoma and age-related macular degeneration.

  5. [Potential of melatonin for prevention of age-related macular degeneration: experimental study].

    Science.gov (United States)

    Stefanova, N A; Zhdankina, A A; Fursova, A Zh; Kolosova, N G

    2013-01-01

    Decline with age of the content of melatonin is considered as one of the leading mechanisms of aging and development of associated diseases, including age-related macular degeneration (AMD)--the disease, which becomes the most common cause of blindness and acuity of vision deterioration in elderly. The prospects of the use of melatonin in the prevention of AMD is being actively discussed, but as a rule on the basis of the results of the experiments on cells in retinal pigment epithelium (RPE). We showed previously that the senescence-accelerated OXYS rat is an adequate animal model of AMD, already used for identifying the relevant therapeutic targets. Here we have investigated the effect of Melatonin (Melaksen, 0,004 mg per kg--a dose equivalent to the recommended one for people) on the development of retinopathy similar to AMD in OXYS rats. Ophthalmoscopic examinations show that Melatonin supplementation decreased the incidence and severity of retinopathy and improved some (but not all) histological abnormalities associated with retinopathy. Thus, melatonin prevented the structural and functional changes in RPE cells, reduced the severity of microcirculatory disorders. Importantly, Melatonin prevented destruction of neurosensory cells, associative and gangliolar neurons in the retina. Taken together, our data suggest the therapeutic potential of Melatonin for treatment and prevention of AMD.

  6. Identification of Determinants of Sports Skill Level in Badminton Players Using the Multiple Regression Model

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    Jaworski Janusz

    2016-03-01

    Full Text Available Purpose. The aim of the study was to evaluate somatic and functional determinants of sports skill level in badminton players at three consecutive stages of training. Methods. The study examined 96 badminton players aged 11 to 19 years. The scope of the study included somatic characteristics, physical abilities and neurosensory abilities. Thirty nine variables were analysed in each athlete. Coefficients of multiple determination were used to evaluate the effect of structural and functional parameters on sports skill level in badminton players. Results. In the group of younger cadets, quality and effectiveness of playing were mostly determined by the level of physical abilities. In the group of cadets, the most important determinants were physical abilities, followed by somatic characteristics. In this group, coordination abilities were also important. In juniors, the most pronounced was a set of the variables that reflect physical abilities. Conclusions. Models of determination of sports skill level are most noticeable in the group of cadets. In all three groups of badminton players, the dominant effect on the quality of playing is due to a set of the variables that determine physical abilities.

  7. Novel mutations in MYO7A and USH2A in Usher syndrome.

    Science.gov (United States)

    Maubaret, Cécilia; Griffoin, Jean-Michel; Arnaud, Bernard; Hamel, Christian

    2005-03-01

    Usher syndrome is an autosomal recessive disease associating retinitis pigmentosa and neurosensory deafness. Three clinical types (USH1, USH2, USH3) and 11 mutated genes or loci have been described. Mutations in MYO7A and USH2A are responsible for about 40% and 60% of Usher syndromes type 1 and 2, respectively. These genes were screened in a series of patients suffering from Usher syndrome. We performed SSCP screening of MYO7A in 12 unrelated patients suffering from Usher syndrome type 1 (USH1) and USH2A in 28 unrelated patients affected by Usher syndrome type 2 (USH2). Six mutations in MYO7A were found in five patients, including two novel mutations c.397C > G (His133Asp) and 1244-2A > G (Glu459Stop), accounting for 42% of our USH1 patients. Twelve mutations in USH2A were found in 11 patients, including four new mutations c.850delGA, c.1841-2A > G, c.3129insT, and c.3920C > G (Ser1307Stop), accounting for 39% of our USH2 patients

  8. The Usher syndrome in the Lebanese population and further refinement of the USH2A candidate region.

    Science.gov (United States)

    Saouda, M; Mansour, A; Bou Moglabey, Y; El Zir, E; Mustapha, M; Chaib, H; Nehmé, A; Mégarbané, A; Loiselet, J; Petit, C; Slim, R

    1998-08-01

    Usher syndrome (USH) is an autosomal-recessive disease characterized by neurosensory deafness and progressive retinitis pigmentosa. So far, three clinical types of Usher syndrome have been defined, and are caused by defects at more than eight loci. We report the linkage analysis of seven Lebanese families with Usher syndrome, two with type I (USH1) and five with type II (USH2). We demonstrate that one family is linked to the USH1C locus, a rare form of USH1 only reported in the French Acadian population. Linkage analysis of the five USH2 families with recently mapped loci allowed us to reduce the USH2A candidate region to a very small interval flanked by D1S2646/D1S2629 and D1S2827. Furthermore, haplotype comparison between the different families suggests a founder effect for the USH2A mutation among the different Lebanese ethnic groups, while a genetic heterogeneity is noted for Usher syndrome type I.

  9. Different renal phenotypes in related adult males with Fabry disease with the same classic genotype.

    Science.gov (United States)

    Mignani, Renzo; Moschella, Mariarita; Cenacchi, Giovanna; Donati, Ilaria; Flachi, Marta; Grimaldi, Daniela; Cerretani, Davide; Giovanni, Paola De; Montevecchi, Marcello; Rigotti, Angelo; Ravasio, Alessandro

    2017-07-01

    Fabry disease related patients with classical mutation usually exhibit similar severe phenotype especially concerning renal manifestation. A dry blood spot screening (DBS) and the DNA analysis has been performed in a 48-year-old man (Patient 1) because of paresthesia. The DBS revealed absent leukocyte α -Gal A enzyme activity while DNA analysis identified the I354K mutation. Serum creatinine and e-GFR were in normal range and also albuminuria and proteinuria were absent. The brain MRI showed ischemic lesions and a diffuse focus of gliosis in the white matter, while the echocardiogram showed a left ventricular hypertrophy. The renal biopsy performed in the case index showed a massive deposition of zebra bodies. By a familiar investigation, it was recognized that his brother (Patient 2) died 2 years before from sudden death syndrome at the age of 49. He had suffered sporadic and undiagnosed pain at the extremities, a prior cataract, bilateral neurosensorial hearing loss and left ventricular hypertrophy on Echocardiogram. His previous laboratory examinations revealed a normal serum creatinine and the absence of proteinuria. Pedigree analysis of the brothers revealed a high disease burden among family members, with an affected cousin (Patient 3) who progressed early to end-stage renal disease (ESRD) that required renal transplantation. Here we describe the clinical history of three adult male members of the same family with the same genotype who manifested different presentation and progression of the disease, particularly concerning the renal involvement.

  10. Los grupos de socialización como factor protector contra la depresión en personas ancianas: Baranquilla, Colombia

    Directory of Open Access Journals (Sweden)

    Tuesca-Molina Rafael

    2003-01-01

    Full Text Available Fundamento: La depresión en personas ancianas es un problema de salud pública dada su prevalencia y comorbilidad. Los objetivos de este trabajo son determinar el papel de los grupos de socialización como factor protector para depresión; determinar otros factores socioculturales asociados; estimar la prevalencia y determinar la concordancia de las pruebas de cribado para depresión - criterios de la Asociación Americana de Psiquiatría y el test de Hamilton. Método: Estudio descriptivo transversal. Participaron 602 personas ancianas de entre 60 y 94 años (223 varones y 379 mujeres, muestra representativa para la población residente del sur-occidente de Barranquilla, Colombia. Previo consentimiento, se aplicó una encuesta de administración directa. Se estudiaron las variables demográficas, socioeconómicas, limitación física, enfermedades degenerativas, disfunción familiar y dos tests de depresión para determinar la concordancia. Se realizó análisis bivariado entre la depresión y la pertinencia a grupos de socialización al igual que la depresión y otras variables. Se determinó análisis de cribado e índice de Kappa para la concordancia de pruebas. Resultados: La participación en grupos de socialización fue un factor protector de presentar depresión. (OR: 0,5, IC 95%: 0,34-0,73. La prevalencia de depresión fue de 29,9% (IC95%: 21,4%-39,4%, siendo en los varones 32,7%. La concordancia con el test de Kappa fue 0,63. (moderada a buena La sensibilidad fue del 56,1%, (48,5% a 63,4%; la especificidad de 99,3%, (IC95%: 97,8%-99,8% y el valor predictivo positivo del 97,1% ( IC95%: 97,2%-99,3%. Conclusiones: Esta investigación determina factores de riesgo para padecer depresión en ancianos potencialmente modificables. La participación en grupos de socialización es un factor protector. La disfunción familiar de tipo moderado y severo, las limitaciones sensoriales como ceguera y sordera, la soledad, ausencia de vivienda y bajos

  11. LOS GRUPOS DE SOCIALIZACION COMO FACTOR PROTECTOR CONTRA LA DEPRESION EN PERSONAS ANCIANAS. BARANQUILLA, COLOMBIA

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    Rafael Tuesca-Molina

    2003-01-01

    Full Text Available Fundamento: La depresión en personas ancianas es un problema de salud pública dada su prevalencia y comorbilidad. Los objetivos de este trabajo son determinar el papel de los grupos de socialización como factor protector para depresión; determinar otros factores socioculturales asociados; estimar la prevalencia y determinar la concordancia de las pruebas de cribado para depresión - criterios de la Asociación Americana de Psiquiatría y el test de Hamilton. Método: Estudio descriptivo transversal. Participaron 602 personas ancianas de entre 60 y 94 años (223 varones y 379 mujeres, muestra representativa para la población residente del sur-occidente de Barranquilla, Colombia. Previo consentimiento, se aplicó una encuesta de administración directa. Se estudiaron las variables demográficas, socioeconómicas, limitación física, enfermedades degenerativas, disfunción familiar y dos tests de depresión para determinar la concordancia. Se realizó análisis bivariado entre la depresión y la pertinencia a grupos de socialización al igual que la depresión y otras variables. Se determinó análisis de cribado e índice de Kappa para la concordancia de pruebas. Resultados: La participación en grupos de socialización fue un factor protector de presentar depresión. (OR: 0,5, IC 95%: 0,34- 0,73. La prevalencia de depresión fue de 29,9% (IC95%: 21,4%- 39,4%, siendo en los varones 32,7%. La concordancia con el test de Kappa fue 0,63. (moderada a buena La sensibilidad fue del 56,1%, (48,5% a 63,4%; la especificidad de 99,3%, (IC95%: 97,8%-99,8% y el valor predictivo positivo del 97,1% ( IC95%: 97,2%-99,3%. Conclusiones: Esta investigación determina factores de riesgo para padecer depresión en ancianos potencialmente modificables. La participación en grupos de socialización es un factor protector. La disfunción familiar de tipo moderado y severo, las limitaciones sensoriales como ceguera y sordera, la soledad, ausencia de vivienda y

  12. Suicidio en mujeres gestantes: vivencias y redes de apoyo para las familias que les sobreviven

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    María V. Builes-Correa

    2014-09-01

    Full Text Available Resumen Objetivo: describir la vivencia que han tenido las familias de dos mujeres gestantes alrededor de su muerte por suicidio en el Departamento de Antioquia (Colombia durante el año 2010-2011. Metodología: investigación cualitativa, método fenomenológico-hermenéutico, específicamente estudio de casos. Se realizaron entre tres y cuatro entrevistas con cada familia y posteriormente se sistematizaron bajo el software Atlas ti. Resultados: en la familia de Bella se encontró la categoría: la vivencia familiar frente al suicidio: de cómo tornarse aprendiz; de ésta surgieron dos categorías: 1. Su muerte nos afectó por dentro y por fuera; 2. entre la sordera y la potencia de las redes de apoyo. En la familia de Consentida emerge la categoría la vivencia familiar: cómo sobrevivir al dolor, a su vez de ella se derivan dos tendencias: 1. Ampliando y rompiendo redes: 2. atando cabos. Conclusiones: las familias del estudio han ido sobreponiéndose al evento en tanto han logrado reconocimiento por parte de redes colaborativas, potenciadoras y vinculantes que han permanecido a lo largo del tiempo. En su vivencia las familias han logrado tomar distancia de la elección de sus familiares gestantes y han seguido valientemente sobreponiéndose a su pérdida. Abstract Objective: to describe the experiences of the families of two pregnant women who committed suicide in the Department of Antioquia (Colombia during 2010-2011. Methodology: a qualitative study using the hermeneutic phenomenological approach, specifically the case study method. Three to four interviews were conducted with each family. These interviews were later systematized using the Atlas ti software. Results: the category “family experience in the event of suicide: on how to become a learner” was found in the family of Bella, and two categories emerged from it: 1. “Her death affected us both internally and externally.” 2. “Between deafness and the power of the support

  13. Competência para prestar cuidado de enfermagem transcultural à pessoa com deficiência: instrumento de autoavaliação Competencia para prestar cuidado de enfermería transcultural a personas con deficiencia: instrumento de autoevaluación Competency to provide cross-cultural nursing care for people with disability: a self-assessment instrument

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    Lorita Marlena Freitag Pagliuca

    2012-10-01

    Cuidado de Enfermería Transcultural a Personas con Deficiencia, específicamente sordera, ceguera y baja visión, deficiencia física y deficiencia mental, respecto a los aspectos de cumplimentar, aceptar, ayudar, conocer y abogar. Se concluye que la teoría reúne características para el cuidado a la persona con deficiencia.This study addresses the Cross-Cultural Nursing Theory, which develops foundations for care delivery, as the essence of nursing work, based on anthropology, which supports and explains culture and care aspects. This reflexive study was based on the Theory Analysis method to study the concepts aimed at constructing a Self-Assessment Instrument of Competencies for Cross-Cultural Care to Disabled People. After analyzing the main concepts, Culturally Competent Care and Cultural Communication, were analyzed, as well as the sub-concepts: assessment, values, bio-cultural diversity, skill, knowledge, identity, code and cultural empathy. The analysis cycle of cultural values supporting self-assessment was summarized. The Self-Assessment Instrument of Competencies for Cross-Cultural Nursing Care to Disabled People was constructed, specifically deafness, blindness or low sight, physical impairment and mental impairment, regarding greeting, accepting, helping, knowing and advocating. It is concluded that the theory joins characteristics for care delivery to disabled people.

  14. Isquemia vertebrobasilar y síndrome de Locked-In

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    Jorge Daza Barriga

    2004-01-01

    Full Text Available Los eventos vasculares cerebrales de la arteria vertebrobasilar no son tan frecuentes como los que ocurren en la circulación anterior; pero se presentan con igual vulnerabilidad a la ateromatosis, a los fenómenos trombóticos, a los eventos embólicos y a las alteraciones vasoespásticas. Clínicamente, se presentan síntomas y signos combinados o mixtos de ataxia ipsilateral, hemiplejia contralateral con pérdida de la sensibilidad, parálisis ipsilateral horizontal de la mirada, nistagmus, vértigos, náuseas y vómitos, disfagia, sordera, acúfenos, mioclonus palatino y oscilopsia. Cuando el compromiso vascular compromete a la propia arteria basilar, los signos clínicos son bilaterales, con cuadriplegía, parálisis bilaterales de la mirada conjugada horizontal, coma, o el síndrome de deferentización (“Locked In” ó cautiverio. Estos mismos signos pueden producirse por la alteración de las arterias vertebrales o por patología unilateral, cuando una de las arterias vertebrales es la fuente dominante del aporte sanguíneo. La realización de una buena historia clínica y un examen cuidadoso nos dan una impresión clínica precisa. La realización de exámenes complementarios, como las imágenes diagnósticas (Escanografía cerebral simple, resonancia magnética cerebral, angioresonancia, son útiles para diferenciar si el evento es isquémico o hemorrágico, establecer el área de la isquemia y para definir las pautas diagnósticas y terapéuticas que se deben seguir El síndrome “Locked In” es un proceso destructivo (normalmente, obstructivo de la arteria basilar con el consiguiente infarto de tronco que interrumpe los tractos descendentes corticobulbares y corticoespinales, quedando intactas sólo las fibras que controlan el parpadeo, los movimientos oculares verticales y a la sustancia reticular ascendente. El paciente sólo es capaz de comunicarse mediante parpadeos o movimientos oculares verticales, ya que todo lo demás est

  15. Disability, Technology and Politics: The entangled experience of being hard of hearing. Discapacidad, tecnología y política: la intrincada experiencia de ser duro de oído

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    Irene Olaussen

    2011-03-01

    tecnologías de asistencia o con medicina. En las últimas décadas, pero, las políticas acerca de la discapacidad han experimentado un giro discursivo. Hoy en día, la discapacidad es conceptualizada como una parte natural más de la diversidad social.  Así, en lugar de normalizar al individuo discapacitado, es la sociedad la que debe posibilitar la plena inclusión y participación de las personas con discapacidad en la vida social. Ahora bien, ¿cómo poner en práctica esta visión de la sociedad universal? ¿Cómo traducir los derechos sociales en un mayor empoderamiento para la consulta médica, o en posibilitar ayudas técnicas, incluyendo medios materiales, o contribuir a relaciones más respetuosas entre la gente que vive y trabaja con discapacidad auditiva? Siguiendo de cerca la puesta en práctica de políticas, o el paso del diseño al uso de ayudas auditivas, u observando las vicisitudes de las personas con sordera en su paso des de la clínica audiológica a su casa, esta tesis investiga la transición de la política de discapacidad a la práctica. El resultado es un estudio compartivo y cualitativo de las pérdidas de audición en Noruega y Holanda.

  16. Consideraciones alrededor del Libro del Almismo, el Libro del Pensar.

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    MartaLucía Tamayo Fernandez

    1999-12-01

    diversos aspectos. Lo primero, las sorderas. Encontramos pacientes que además de su problema auditivo estaban presentando lesiones retinianas muy importantes que los estaban incapacitando severamente. Descubrimos que era un síndrome, que era una enfermedad genética y comenzamos a trabajar el Síndrome de Usher...

  17. Directory of Open Access Journals (Sweden)

    Ana Luisa Borba Gediel

    2017-07-01

    redes sociales que el uso de la LIBRAS (Lengua Brasileña de Señales y la identificación con el ser Surdo se caracterizan de forma positiva, pues se contraponen a la visión de la sordera como deficiencia. Finalmente, demostramos la importancia del uso de las tecnologías como medio de acceso a los conocimientos sobre la propia salud, que no siempre llegan a las mujeres Sordas a partir de los profesionales de la salud.  PALAVRAS CLAVE: Mujeres Sordas; LIBRAS; Tecnologías; Accesibilidad.

  18. Guía de cuidados en Otorrinolaringología y Patología Cérvicofacial

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    José Luis PARDAL-REFOYO

    2018-01-01

    Full Text Available Guía 3Ed. índiceIntroducción1- TEMAS GENERALES1.1.          Preparación preoperatoria1.2.          Antimicrobianos1.2.1       Profilaxis antibiótica1.2.2       Pautas en infecciones ORL1.2.2 Pautas en pediatría1.3.          Diabetes y cirugía1.4.          Dolor1.5.          Reservorios intravenosos1.6.          Nutrición1.6.1         Nutrición enteral por sonda (nasogástrica y gastrostomía1.6.2       Nutrición parenteral1.7.          Preparación en estudios por imagen1.8.          Transfusiones1.9.          Anticoagulación. Profilaxis de la enfermedad tromboembólica1.10.       Rehabilitación y Fisioterapia: cuello, hombro, respiración y voz1.10.1        Primera semana1.10.2        Tras retirar puntos y vendajes1.10.3        Transcurridas cuatro a seis semanas1.10.4        Respiración y voz en el paciente portador de cánula1.11      Paciente intubado:                            1.11.1 Cuidados del paciente intubado1.11.2  Indicaciones de la traqueotomía en UCI1.12      Cuidados en otras patologías ORL1.12.1        Epístaxis1.12.2        Insuficiencia respiratoria laríngea1.12.3        Sordera súbita, sordera fluctuante, vértigo y trastornos del equilibrio2- PREPARACIÓN Y CUIDADOS EN PATOLOGÍA QUIRÚRGICA DE CABEZA Y CUELLO2.1     PAUTAS GENERALES DE PREPARACIÓN y CUIDADOS2.2     Cirugía del cuello2.2.1       Cervicotomías2.2.1.1         Cuidados generales2.2.1.2         Cirugía endocrina: tiroides y paratiroides2.2.2       Cirugía de laringe y faringe por vía cervical2.2.2.1         Laringectomías2.2.2.2         Fístulas cutáneas2.2.2.3         Traqueotomías y cánulas2.2.2.3.1           Traqueotomía.2.2.2.3.2           C

  19. Color del iris e hipoacusia en el Síndrome de Waardenburg. Pinar del Río, Cuba Color of the iris and hypoacusis in Waardenburg Syndrome. Pinar del Rio, Cuba

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    Fidel Castro Pérez

    2012-06-01

    Full Text Available Introducción: Aunque se han descrito hipoacusia neurosensorial y cambios de color en el iris, la relación entre estos no ha sido estudiada previamente. Objetivos: Describir y analizar la posible asociación de la hipoacusia y profundidad de ésta con el color del iris en una familia afectada con el síndrome, lo que constituiría un nuevo aporte al conocimiento del Síndrome de Waardenburg (SW. Material y Método: Se realizó un estudio de casos, observacional, transversal y descriptivo con algunos aspectos analíticos en personas con SW del Municipio Sandino. Se utilizaron las medidas de resumen para variables cualitativas y la prueba de X² para medir asociación al 95 % de certeza. Resultados: 15 individuos presentaron hipoacusia neurosensorial de diferentes distribución e intensidad, con predominio de los ojos pardos y azules bilaterales. Se detectó mayor frecuencia de individuos hipoacúsicos entre los que tenían ojos azules con asociación entre las dos variables (X²= 6,47, gl = 1; p = 0.01. La intensidad de la hipoacusia fue mayor entre los individuos con ojos azules (85.7 % con hipoacusia severa o profunda 3 veces superior que en los otros colores de los ojos. Conclusiones: Existe relación entre el color azul del iris y la presencia de la hipoacusia y mayor intensidad de esta última en individuos con SW.Background: Although sensorineural hearing loss and iris pigmentary changes have been described, the association between these two elements has not been previously studied. Objectives: to describe and analyze the possible association of hypoacusis and the intensity of this with the color of the iris in a family suffering from this syndrome; which will constitute a new contribution to the understanding of Waardenburg Syndrome (WS. Material and Method: an observational, cross-sectional and descriptive case-study was carried out having some analytic aspects in people suffering from WS in Sandino municipality, Pinar del Rio. Measures

  20. Moderately early (7-14 days) postnatal corticosteroids for preventing chronic lung disease in preterm infants.

    Science.gov (United States)

    Halliday, H L; Ehrenkranz, R A; Doyle, L W

    2003-01-01

    Corticosteroids have been used late in the neonatal period to treat chronic lung disease (CLD) in preterm babies, and early to try to prevent it. CLD is likely to be the result of persisting inflammation in the lung and the use of powerful anti-inflammatory drugs like dexamethasone has some rationale. Early use tends to be associated with increased adverse effects so that studies of moderately early treatment (7-14 days postnatal) might have the dual benefits of fewer side effects and onset of action before chronic inflammation is established. To determine if moderately early (7-14 days) postnatal corticosteroid treatment vs control (placebo or nothing) is of benefit in the prevention and/or treatment of early chronic lung disease in the preterm infant. Randomised controlled trials of postnatal corticosteroid therapy were sought from the Oxford Database of Perinatal Trials, Cochrane Database of Controlled Trials, MEDLINE (1966 - October 2002), hand searching paediatric and perinatal journals, examining previous review articles and information received from practicing neonatologists. Authors of all studies were contacted, where possible, to confirm details of reported follow-up studies, or to obtain any information about long-term follow-up where none had been reported. Randomised controlled trials of postnatal corticosteroid treatment from 7-14 days of birth in high risk preterm infants were selected for this review. Data regarding clinical outcomes including mortality, CLD (including late rescue with corticosteroids, or need for home oxygen therapy), death or CLD, failure to extubate, complications during the primary hospitalisation (including infection, hyperglycaemia, hypertension, hypertrophic cardiomyopathy, pneumothorax, severe intraventricular haemorrhage (IVH), necrotizing enterocolitis (NEC), gastrointestinal bleeding, and severe retinopathy of prematurity (ROP)), and long term outcome (including blindness, deafness, cerebral palsy and major neurosensory

  1. Efectos del masaje en el recién nacido y el lactante Massage effects at the newborn and suckling baby

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    Francisca Márquez Doren

    2007-09-01

    Full Text Available Antecedentes: masaje infantil, técnica relativamente nueva en occidente, importada desde India por el Dr. Leboyer, quien observó sus beneficios para los niños. Diseño: revisión bibliográfica de 10 estudios, cuyos límites de búsqueda fueron "infant massage", "infant tactile stimulation", ensayos clínicos randomizados, con menos de 7 años de antigüedad, de bases de datos Pubmed, Cinhal, Medline y Cochrane. Propósito: determinar el efecto del masaje en el recién nacido y lactante, considerando niños de pretérmino y término, con o sin patologías, que recibieron masaje. Resultados: mejor ganancia de peso, mejor desarrollo neurosensorial, periodos de alerta prolongados, aumento del tono vagal y motilidad gástrica, efectos analgésicos. También, mejor organización del sueño, disminución de hormonas del stress y recepción precoz de alimentos por vía oral, menos días de hospitalización y se observó una interacción madre hijo positiva. El masaje no mostró resultados significativos en disminuir cólicos en niños normales ni disminución del llanto en niños con lesiones cerebrales. Conclusiones: el masaje infantil demostró tener múltiples beneficios para el niño, su madre y su interacción, pero existen situaciones especiales en las que no fue efectivo.Background: infant massage is a relatively new technic in the western society, concerned from India by Dr. Leboyer, who observed his benefits for the children. Design: bibliographical review of 10 studies, whose limits search were infant massage, infant tactile stimulation, with just of 6 years of antiquity, randomized control trail, of data bases Pubmed, Cinhal, Medline and Cochrane. Intention: to determine the effect of the massage in new born and child, considering of preterm and term babys, with or without pathologies, that received massage. Main results: better gain of weight, better neurosensorial development, prolonged periods of alert, increase in vagal tone and

  2. Alteraciones del polo posterior en la miopía degenerativa Alterations of the posterior pole in degenerative myopia patients

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    Suzel Ivón Lapido Polanco

    2012-12-01

    Full Text Available La miopía degenerativa constituye una de las causas fundamentales de pérdida de la visión. Esto está relacionado con las alteraciones del polo posterior, que afectan la retina neurosensorial, el epitelio pigmentario de la retina y las capas más internas de la coroides. Su curso lento y progresivo demanda una exploración integral, con seguimiento en el tiempo y constituye un reto para el oftalmólogo. Se realizó una revisión de artículos publicados e indexados en la base de datos de PubMed que se refirieran a las características clínicas del fondo de ojo en pacientes con miopía degenerativa, para describir las principales alteraciones del polo posterior del globo ocular en esta entidad. Se encontró entre las lesiones típicas de la alta miopía, al estafiloma posterior como un signo patognomónico de la enfermedad, asociado a la atrofia coriorretiniana en parches o difusa, así como las estrías de laca y las hemorragias maculares secundarias a ellas o provenientes de membranas neovasculares coroideas. La tomografía de coherencia óptica ha permitido un diagnóstico más preciso de otras lesiones maculares como la foveosquisis, el agujero macular y, más recientemente, la mácula en domo. Los cambios degenerativos del polo posterior parecen guardar relación unos con otros pero la patogenia no ha sido bien esclarecida a pesar de los avances tecnológicos.Degenerative myopia is one of the main causes of visual impairment. This is related to disorders in the posterior pole, affecting the neurosensorial retina, the retinal pigmented epithelium and the inner choroidal layers. The slow and progressive course of this condition demands comprehensive assessment and long follow-up, which is a challenging task for ophthalmologists. A review of the articles indexed in PubMed regarding the clinical characteristics of the fundus in patients with degenerative myopia was made to describe the main disorders of the posterior pole of the eyeball

  3. A retrospective study of ketamine administration and the development of acute or post-traumatic stress disorder in 274 war-wounded soldiers.

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    Mion, G; Le Masson, J; Granier, C; Hoffmann, C

    2017-12-01

    The objective of this study was to explore whether ketamine prevents or exacerbates acute or post-traumatic stress disorders in military trauma patients. We conducted a retrospective study of a database from the French Military Health Service, including all soldiers surviving a war injury in Afghanistan (2010-2012). The diagnosis of post-traumatic stress disorder was made by a psychiatrist and patients were analysed according to the presence or absence of this condition. Analysis included the following covariables: age; sex; acute stress disorder; blast injury; associated fatality; brain injury; traumatic amputation; Glasgow coma scale; injury severity score; administered drugs; number of surgical procedures; physical, neurosensory or aesthetic sequelae; and the development chronic pain. Covariables related to post-traumatic and acute stress disorders with a p ≤ 0.10 were included in a multivariable logistic regression model. The data from 450 soldiers were identified; 399 survived, of which 274 were analysed. Among these, 98 (36%) suffered from post-traumatic stress disorder and 89 (32%) had received ketamine. Fifty-four patients (55%) in the post-traumatic stress disorder group received ketamine vs. 35 (20%) in the no PTSD group (p stress disorder and total number of surgical procedures were independently associated with the development of post-traumatic stress disorder. In this retrospective study, ketamine administration was not a risk factor for the development of post-traumatic stress disorder in the military trauma setting. © 2017 The Association of Anaesthetists of Great Britain and Ireland.

  4. Oxygen and oxidative stress in the perinatal period.

    Science.gov (United States)

    Torres-Cuevas, Isabel; Parra-Llorca, Anna; Sánchez-Illana, Angel; Nuñez-Ramiro, Antonio; Kuligowski, Julia; Cháfer-Pericás, Consuelo; Cernada, María; Escobar, Justo; Vento, Máximo

    2017-08-01

    Fetal life evolves in a hypoxic environment. Changes in the oxygen content in utero caused by conditions such as pre-eclampsia or type I diabetes or by oxygen supplementation to the mother lead to increased free radical production and correlate with perinatal outcomes. In the fetal-to-neonatal transition asphyxia is characterized by intermittent periods of hypoxia ischemia that may evolve to hypoxic ischemic encephalopathy associated with neurocognitive, motor, and neurosensorial impairment. Free radicals generated upon reoxygenation may notably increase brain damage. Hence, clinical trials have shown that the use of 100% oxygen given with positive pressure in the airways of the newborn infant during resuscitation causes more oxidative stress than using air, and increases mortality. Preterm infants are endowed with an immature lung and antioxidant system. Clinical stabilization of preterm infants after birth frequently requires positive pressure ventilation with a gas admixture that contains oxygen to achieve a normal heart rate and arterial oxygen saturation. In randomized controlled trials the use high oxygen concentrations (90% to 100%) has caused more oxidative stress and clinical complications that the use of lower oxygen concentrations (30-60%). A correlation between the amount of oxygen received during resuscitation and the level of biomarkers of oxidative stress and clinical outcomes was established. Thus, based on clinical outcomes and analytical results of oxidative stress biomarkers relevant changes were introduced in the resuscitation policies. However, it should be underscored that analysis of oxidative stress biomarkers in biofluids has only been used in experimental and clinical research but not in clinical routine. The complexity of the technical procedures, lack of automation, and cost of these determinations have hindered the routine use of biomarkers in the clinical setting. Overcoming these technical and economical difficulties constitutes a

  5. Oxygen and oxidative stress in the perinatal period

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    Isabel Torres-Cuevas

    2017-08-01

    Full Text Available Fetal life evolves in a hypoxic environment. Changes in the oxygen content in utero caused by conditions such as pre-eclampsia or type I diabetes or by oxygen supplementation to the mother lead to increased free radical production and correlate with perinatal outcomes.In the fetal-to-neonatal transition asphyxia is characterized by intermittent periods of hypoxia ischemia that may evolve to hypoxic ischemic encephalopathy associated with neurocognitive, motor, and neurosensorial impairment. Free radicals generated upon reoxygenation may notably increase brain damage. Hence, clinical trials have shown that the use of 100% oxygen given with positive pressure in the airways of the newborn infant during resuscitation causes more oxidative stress than using air, and increases mortality.Preterm infants are endowed with an immature lung and antioxidant system. Clinical stabilization of preterm infants after birth frequently requires positive pressure ventilation with a gas admixture that contains oxygen to achieve a normal heart rate and arterial oxygen saturation. In randomized controlled trials the use high oxygen concentrations (90% to 100% has caused more oxidative stress and clinical complications that the use of lower oxygen concentrations (30–60%. A correlation between the amount of oxygen received during resuscitation and the level of biomarkers of oxidative stress and clinical outcomes was established. Thus, based on clinical outcomes and analytical results of oxidative stress biomarkers relevant changes were introduced in the resuscitation policies. However, it should be underscored that analysis of oxidative stress biomarkers in biofluids has only been used in experimental and clinical research but not in clinical routine. The complexity of the technical procedures, lack of automation, and cost of these determinations have hindered the routine use of biomarkers in the clinical setting. Overcoming these technical and economical difficulties

  6. Ontogenetic Shape Change in the Chicken Brain: Implications for Paleontology.

    Science.gov (United States)

    Kawabe, Soichiro; Matsuda, Seiji; Tsunekawa, Naoki; Endo, Hideki

    2015-01-01

    Paleontologists have investigated brain morphology of extinct birds with little information on post-hatching changes in avian brain morphology. Without the knowledge of ontogenesis, assessing brain morphology in fossil taxa could lead to misinterpretation of the phylogeny or neurosensory development of extinct species. Hence, it is imperative to determine how avian brain morphology changes during post-hatching growth. In this study, chicken brain shape was compared at various developmental stages using three-dimensional (3D) geometric morphometric analysis and the growth rate of brain regions was evaluated to explore post-hatching morphological changes. Microscopic MRI (μMRI) was used to acquire in vivo data from living and post-mortem chicken brains. The telencephalon rotates caudoventrally during growth. This change in shape leads to a relative caudodorsal rotation of the cerebellum and myelencephalon. In addition, all brain regions elongate rostrocaudally and this leads to a more slender brain shape. The growth rates of each brain region were constant and the slopes from the growth formula were parallel. The dominant pattern of ontogenetic shape change corresponded with interspecific shape changes due to increasing brain size. That is, the interspecific and ontogenetic changes in brain shape due to increased size have similar patterns. Although the shape of the brain and each brain region changed considerably, the volume ratio of each brain region did not change. This suggests that the brain can change its shape after completing functional differentiation of the brain regions. Moreover, these results show that consideration of ontogenetic changes in brain shape is necessary for an accurate assessment of brain morphology in paleontological studies.

  7. Body condition and suckling as factors influencing the duration of postpartum anestrus in cattle: a review.

    Science.gov (United States)

    Montiel, F; Ahuja, C

    2005-01-01

    Prolonged postpartum anestrus is a main factor limiting reproductive efficiency in cattle, particularly in Bos indicus and Bos taurus/Bos indicus cows from tropical regions, because it prevents achievement of a 12 month calving interval. During anestrus, ovulation does not occur despite ovarian follicular development, because growing follicles do not mature. Although many factors affect postpartum anestrus, nutrition and suckling are the major factors influencing the resumption of postpartum ovarian cycles, as they affect hypothalamic, pituitary and ovarian activity and thus inhibit follicular development. Under-nutrition contributes to prolonged postpartum anestrus, particularly among cows dependent upon forages to meet their feed requirements and it apparently interacts with genetic, environmental or management factors to influence the duration of anestrus. The nutritional status or balance of an animal is evaluated through body condition score (BCS), as it reflects the body energy reserves available for metabolism, growth, lactation and activity. There is a converse relationship between energy balance and time to resumption of postpartum ovarian activity; inadequate nutrient intake results in loss of weight and BCS and finally cessation of estrous cycles. Suckling interferes with hypothalamic release of GnRH, provoking a marked suppression in pulsatile LH release, resulting in extended postpartum anestrus. The effects of suckling on regulation of tonic LH release are determined by the ability of the cow to identify a calf as her own or as unrelated. Vision and olfaction play critical roles in the development of the maternal-offspring bond, allowing the cow to identify her own calf, and abolition of both senses attenuates the negative effects of suckling on LH secretion. Thus, the maternal-offspring bond is essential for prolonged postpartum suckling-induced anovulation, and the suppressive influence of suckling is independent of neurosensory pathways within the

  8. Tattoo complaints and complications: diagnosis and clinical spectrum.

    Science.gov (United States)

    Serup, Jørgen; Carlsen, Katrina Hutton; Sepehri, Mitra

    2015-01-01

    Tattoos cause a broad range of clinical problems. Mild complaints, especially sensitivity to sun, are very common and seen in 1/5 of cases. Medical complications are dominated by allergy to tattoo pigment haptens or haptens generated in the skin, especially in red tattoos but also in blue and green tattoos. Symptoms are major and can be compared to cumbersome pruritic skin diseases. Tattoo allergies and local reactions show distinct clinical manifestations, with plaque-like, excessive hyperkeratotic, ulcero-necrotic, lymphopathic, neuro-sensory, and scar patterns. Reactions in black tattoos are papulo-nodular and non-allergic and associated with the agglomeration of nanoparticulate carbon black. Tattoo complications include effects on general health conditions and complications in the psycho-social sphere. Tattoo infections with bacteria, especially staphylococci, which may be resistant to multiple antibiotics, may be prominent and may progress into life-threatening sepsis. Contaminated tattoo ink is an open-window risk vector that can lead to epidemic tattoo infections across national borders due to contaminated bulk production. Hepatitis B and C and human immunodeficiency virus (HIV) transferred by tattooing remain a significant risk needing active prevention. It is noteworthy that cancer arising in tattoos, in regional lymph nodes, and in other organs due to tattoo pigments and ingredients has not been detected or noted as a significant clinical problem hitherto, despite millions of people being tattooed for decennia. Clinical observation and epidemiology disagree with register data, which indicate an increased risk of cancer due to chemical carcinogens present in some inks. Registers rely on chronic dosaging of cell lines and animals. However, tattooing in humans is essentially a single-dose exposure, which might explain the observed discrepancy. © 2015 S. Karger AG, Basel.

  9. A novel surgical approach to impacted mandibular third molars to reduce the risk of paresthesia: a case series.

    Science.gov (United States)

    Landi, Luca; Manicone, Paolo Francesco; Piccinelli, Stefano; Raia, Alessandro; Raia, Roberto

    2010-05-01

    Extraction of impacted mandibular third molars (M3s) may cause temporary or permanent neurosensorial disturbances of the inferior alveolar nerve (IAN). Although the incidence of this complication is low, a great range of variability has been reported in the literature. Several methods to reduce or eliminate this complication have been proposed, such as orthodontic-assisted extraction, extraction of the second molar, or intentional odontoectomy. The purpose of this series of cases is to present a novel approach for a riskless extraction of impacted mandibular M3s in contact with the IAN. Nine consecutive patients (4 male and 5 female; mean age 24.9 years, range 18-43 years) required the extraction of 10 horizontally or mesioangular impacted mandibular M3s. In all cases the M3 was in contact with the IAN with a high risk of nerve injury. A staged approached was proposed and accepted by the patients. This approach consisted in the surgical removal of the mesial portion of the anatomic crown to create adequate space for mesial M3 migration. After the migration of the M3 had taken place, the extraction could then be accomplished in a second surgical session minimizing neurological risks. All M3s moved mesially within 6 months (mean 174.1 days, range 92-354 days) and could be successfully removed without any neurological consequences. This technique may be considered as an alternative approach to the extraction of horizontally or mesioangular impacted M3s in proximity to the IAN. Copyright 2010 American Association of Oral and Maxillofacial Surgeons. Published by Elsevier Inc. All rights reserved.

  10. The effects of coenzyme Q10 treatment on maternally inherited diabetes mellitus and deafness, and mitochondrial DNA 3243 (A to G) mutation.

    Science.gov (United States)

    Suzuki, S; Hinokio, Y; Ohtomo, M; Hirai, M; Hirai, A; Chiba, M; Kasuga, S; Satoh, Y; Akai, H; Toyota, T

    1998-05-01

    The characteristic clinical features of diabetes mellitus with mitochondrial DNA (mtDNA) 3243(A-G) mutation are progressive insulin secretory defect, neurosensory deafness and maternal inheritance, referred to as maternally inherited diabetes mellitus and deafness (MIDD). A treatment for MIDD to improve insulin secretory defects and reduce deafness has not been established. The effects of coenzyme Q10 (CoQ10) treatment on insulin secretory response, hearing capacity and clinical symptoms of MIDD were investigated. 28 MIDD patients (CoQ10-DM), 7 mutant subjects with impaired glucose tolerance (IGT), and 15 mutant subjects with normal glucose tolerance (NGT) were treated daily with oral administration of 150 mg of CoQ10 for 3 years. Insulin secretory response, blood lactate after exercise, hearing capacity and other laboratory examinations were investigated every year. In the same way we evaluated 16 MIDD patients (control-DM), 5 mutant IGT and 5 mutant NGT subjects in yearly examinations. The insulin secretory response assessed by glucagon-induced C-peptide secretion and 24 h urinary C-peptide excretion after 3 years in the CoQ10-DM group was significantly higher than that in the control-DM group. CoQ10 therapy prevented progressive hearing loss and improved blood lactate after exercise in the MIDD patients. CoQ10 treatment did not affect the diabetic complications or other clinical symptoms of MIDD patients. CoQ10 treatment did not affect the insulin secretory capacity of the mutant IGT and NGT subjects. There were no side effects during therapy. This is the first report demonstrating the therapeutic usefulness of CoQ10 on MIDD.

  11. Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome.

    Science.gov (United States)

    Ritelli, Marco; Dordoni, Chiara; Cinquina, Valeria; Venturini, Marina; Calzavara-Pinton, Piergiacomo; Colombi, Marina

    2017-09-07

    Spondylodysplastic EDS (spEDS) is a rare connective tissue disorder that groups the phenotypes caused by biallelic B4GALT7, B3GALT6, and SLC39A13 mutations. In the 2017 EDS nosology, minimal criteria (general and gene-specific) for a clinical suspicion of spEDS have been proposed, but molecular analysis is required to reach a definite diagnosis. The majority of spEDS patients presented with short stature, skin hyperextensibility, facial dysmorphisms, peculiar radiological findings, muscle hypotonia and joint laxity and/or its complications. To date only 7 patients with β4GALT7-deficiency (spEDS-B4GALT7) have been described and their clinical data suggested that, in addition to short stature and muscle hypotonia, radioulnar synostosis, hypermetropia, and delayed cognitive development might be a hallmark of this specific type of spEDS. Additional 22 patients affected with an overlapping phenotype, i.e., Larsen of Reunion Island syndrome, all carrying a homozygous B4GALT7 mutation, are also recognized. Herein, we report on a 30-year-old Moroccan woman who fitted the minimal criteria to suspect spEDS, but lacked radioulnar synostosis and intellectual disability and presented with neurosensorial hearing loss and limb edema of lymphatic origin. Sanger sequencing of B4GALT7 was performed since the evaluation of the spEDS gene-specific minor criteria suggested this specific subtype. Mutational screening revealed the homozygous c.829G>T, p.Glu277* pathogenetic variant leading to aberrant splicing. Our findings expand both the clinical and mutational spectrum of this ultrarare connective tissue disorder. The comparison of the patient's features with those of the other spEDS and Larsen of Reunion Island syndrome patients reported up to now offers future perspectives for spEDS nosology and clinical research in this field.

  12. The human pain genetics database: an interview with Luda Diatchenko.

    Science.gov (United States)

    Diatchenko, Luda

    2018-06-05

    Luda Diatchenko, MD, PhD is a Canada Excellence Research Chair in Human Pain Genetics, Professor, Faculty of Medicine, Department of Anesthesia and Faculty of Dentistry at McGill University, Alan Edwards Centre for Research on Pain. She earned her MD and PhD in the field of molecular biology from the Russian State Medical University. She started her career in industry, she was a Leader of the RNA Expression Group at Clontech, Inc., and subsequently, Director of Gene Discovery at Attagene, Inc. During this time, she was actively involved in the development of several widely used and widely cited molecular tools for the analysis of gene expression and regulation. Her academic career started at 2000 in the Center for Neurosensory Disorders at University of North Carolina. Her research since then is focused on determining the cellular and molecular biological mechanisms by which functional genetic variations impact human pain perception and risk of development of chronic pain conditions, enabling new approaches to identify new drug targets, treatment responses to analgesics and diagnostic. Multiple collaborative activities allow the Diatchenko group to take basic genetic findings all the way from human association studies, through molecular and cellular mechanisms to animal models and ultimately to human clinical trials. In total, she has authored or co-authored over 120 peer-reviewed research papers in journals, ten book chapters and edited a book in human pain genetics. She is a member and an active officer of several national and international scientific societies, including the International Association for the Study of Pain and the American Pain Society.

  13. Clinical characteristics of chronic kidney disease of non-traditional causes in women of agricultural communities in El Salvador.

    Science.gov (United States)

    Herrera Valdés, Raúl; Orantes, Carlos M; Almaguer López, Miguel; López Marín, Laura; Arévalo, Pedro Alfonso; Smith González, Magaly J; Morales, Fabrizio E; Bacallao, Raymed; Bayarre, Héctor D; Vela Parada, Xavier F

    2015-01-01

    A chronic kidney disease of non-traditional causes (CKDu) has emerged in Central America and elsewhere, predominantly affecting male farmworkers. In El Salvador (2009), it was the second cause of death in men > 18 years old. Causality has not been determined. Most available research focused on men and there is scarce data on women. Describe the clinical and histopathologic characteristics of CKDu in women of agricultural communities in El Salvador. A descriptive study was carried out in 10 women with CKDu stages 2, 3a, and 3b. Researchers studied demographics, clinical examination; hematological and biochemical analyses, urine sediment, renal injury markers, and assessed renal, cardiac, and peripheral arteries, liver, pancreas, and lung anatomy and functions. Kidney biopsy was performed in all. Data was collected on the Lime Survey platform and exported to SPSS 19.0. Patient distribution by stages: 2 (70%), 3a (10%), 3b (20%). Occupation: agricultural 7; non-agricultural 3. agrochemical exposure 100%; farmworkers 70%; incidental malaria 50%, NSAIDs use 40%; hypertension 40%. nocturia 50%; dysuria 50%; arthralgia 70%; asthenia 50%; cramps 30%, profuse sweating 20%. Renal markers: albumin creatinine ratio (ACR) > 300 mg/g 90%; β microglobulin and neutrophil gelatinase- associated lipocalin (NGAL) presence in 40%. Kidney function: hypermagnesuria 100%; hyperphosphaturia 50%, hypercalciuria 40%; hypernatriuria 30%; hyponatremia 60%, hypocalcemia 50%. Doppler: tibial artery damage 40%. Neurological: reflex abnormalities 30%; Babinski and myoclonus 20%. Neurosensorial hypoacusis 70%. Histopathology: damage restricted mostly to the tubulo-interstitium, urine was essentially bland. CKDu in women is a chronic tubulointerstitial nephropathy with varied extrarenal symptoms.

  14. Physiological impacts of elevated carbon dioxide and ocean acidification on fish.

    Science.gov (United States)

    Heuer, Rachael M; Grosell, Martin

    2014-11-01

    Most fish studied to date efficiently compensate for a hypercapnic acid-base disturbance; however, many recent studies examining the effects of ocean acidification on fish have documented impacts at CO2 levels predicted to occur before the end of this century. Notable impacts on neurosensory and behavioral endpoints, otolith growth, mitochondrial function, and metabolic rate demonstrate an unexpected sensitivity to current-day and near-future CO2 levels. Most explanations for these effects seem to center on increases in Pco2 and HCO3- that occur in the body during pH compensation for acid-base balance; however, few studies have measured these parameters at environmentally relevant CO2 levels or directly related them to reported negative endpoints. This compensatory response is well documented, but noted variation in dynamic regulation of acid-base transport pathways across species, exposure levels, and exposure duration suggests that multiple strategies may be utilized to cope with hypercapnia. Understanding this regulation and changes in ion gradients in extracellular and intracellular compartments during CO2 exposure could provide a basis for predicting sensitivity and explaining interspecies variation. Based on analysis of the existing literature, the present review presents a clear message that ocean acidification may cause significant effects on fish across multiple physiological systems, suggesting that pH compensation does not necessarily confer tolerance as downstream consequences and tradeoffs occur. It remains difficult to assess if acclimation responses during abrupt CO2 exposures will translate to fitness impacts over longer timescales. Nonetheless, identifying mechanisms and processes that may be subject to selective pressure could be one of many important components of assessing adaptive capacity. Copyright © 2014 the American Physiological Society.

  15. Trial protocol OPPTIMUM– Does progesterone prophylaxis for the prevention of preterm labour improve outcome?

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    Norman Jane E

    2012-08-01

    Full Text Available Abstract Background Preterm birth is a global problem, with a prevalence of 8 to 12% depending on location. Several large trials and systematic reviews have shown progestogens to be effective in preventing or delaying preterm birth in selected high risk women with a singleton pregnancy (including those with a short cervix or previous preterm birth. Although an improvement in short term neonatal outcomes has been shown in some trials these have not consistently been confirmed in meta-analyses. Additionally data on longer term outcomes is limited to a single trial where no difference in outcomes was demonstrated at four years of age of the child, despite those in the “progesterone” group having a lower incidence of preterm birth. Methods/Design The OPPTIMUM study is a double blind randomized placebo controlled trial to determine whether progesterone prophylaxis to prevent preterm birth has long term neonatal or infant benefit. Specifically it will study whether, in women with singleton pregnancy and at high risk of preterm labour, prophylactic vaginal natural progesterone, 200 mg daily from 22 – 34 weeks gestation, compared to placebo, improves obstetric outcome by lengthening pregnancy thus reducing the incidence of preterm delivery (before 34 weeks, improves neonatal outcome by reducing a composite of death and major morbidity, and leads to improved childhood cognitive and neurosensory outcomes at two years of age. Recruitment began in 2009 and is scheduled to close in Spring 2013. As of May 2012, over 800 women had been randomized in 60 sites. Discussion OPPTIMUM will provide further evidence on the effectiveness of vaginal progesterone for prevention of preterm birth and improvement of neonatal outcomes in selected groups of women with singleton pregnancy at high risk of preterm birth. Additionally it will determine whether any reduction in the incidence of preterm birth is accompanied by improved childhood outcome. Trial

  16. A imunização contra a rubéola no primeiro trimestre de gestação pode levar à perda auditiva? Can the immunization against rubella take to the hearing loss in the first pregnancy quarter?

    Directory of Open Access Journals (Sweden)

    Ana L��cia Pereira de Andrade Dias

    2009-01-01

    Full Text Available TEMA: embora o risco da Síndrome da Rubéola Congênita após a imunização seja pequeno, é necessário assegurar a imunidade das mulheres em idade fértil, especialmente daquelas com risco mais alto de exposição, visando a prevenção. OBJETIVO: esclarecer o risco que a imunização da rubéola apresenta para a audição do recém nascido, no primeiro trimestre de gestação. CONCLUSÃO: os levantamentos realizados por este estudo permitiram concluir que ainda há um grande caminho a ser percorrido em prol da erradicação da rubéola no Brasil, bem como a diminuição dos riscos de surdez neurossensorial causados pela Síndrome da Rubéola Congênita.BACKGROUND: although congenital rubella syndrome risk after immunization is low, it is required to assert immunity of women in fertile age, especially those in higher risk of exposure aiming at prevention. PURPOSE: to elucidate the risk that rubella immunization in the first three months of gestation presents for the newborn hearing. CONCLUSION: investigations carried out by this study allow us to conclude that there is still a lot to be done in order to eradicate rubella in Brazil, as well as to reduce/decrease risks of neurosensorial deafness caused by CRS.

  17. Anterior cruciate ligament reconstruction, rehabilitation, and return to play: 2015 update

    Directory of Open Access Journals (Sweden)

    Nyl

    2016-02-01

    Full Text Available John Nyland,1,2 Alma Mattocks,1 Shane Kibbe,2 Alaa Kalloub,2,3 Joe W Greene,4 David N M Caborn2,3 1Athletic Training Program, Kosair Charities College of Health and Natural Sciences, Spalding University, Louisville, KY, USA; 2Department of Orthopedic Surgery, University of Louisville, Louisville, KY, USA; 3Shea Orthopedic Group, Louisville, KY, USA; 4Norton Orthopedic and Sports, Louisville, KY, USA Abstract: Anatomical discoveries and a growing appreciation of the knee as a complex organ are driving innovations in patient care decision-making following anterior cruciate ligament (ACL injury. Surgeons are increasing their efforts to restore combined mechanical-neurosensory ACL function and placing more consideration on when to reconstruct versus repair native anatomical structures. Surgical options now include primary repair with or without reinforcing the injured ACL with suture-based internal bracing, and growing evidence supports biological augmentation using platelet-rich plasma and mesenchymal stem cells to enhance tissue healing. Physical therapists and athletic trainers are increasing their efforts to facilitate greater athlete cognitive engagement during therapeutic exercise performance to better restore nonimpaired neuromuscular control activation amplitude and timing. Knee brace design and use needs to evolve to better match these innovations and their influence on the rehabilitation plan timetable. There is a growing appreciation for the multifaceted characteristics of the rehabilitation process and how they influence neuromuscular, educational, and psychobehavioral treatment goal achievement. Multiple sources may influence the athlete during the return to sports process and clinical outcome measures need to be refined to better evaluate these influences. This update summarizes contemporary ACL surgical, medical, and rehabilitation interventions and future trends. Keywords: arthroscopy, knee, function, outcomes, decision-making 

  18. Cleft Lip and Palate in CHARGE Syndrome: Phenotypic Features That Influence Management.

    Science.gov (United States)

    Isaac, Kathryn V; Ganske, Ingrid M; Rottgers, Stephen A; Lim, So Young; Mulliken, John B

    2018-03-01

    Infants with syndromic cleft lip and/or cleft palate (CL/P) often require more complex care than their nonsyndromic counterparts. Our purpose was to (1) determine the prevalence of CL/P in patients with CHARGE syndrome and (2) highlight factors that affect management in this subset of children. This is a retrospective review from 1998 to 2016. Patients with CHARGE syndrome were diagnosed clinically and genetically. Prevalence of CL/P was determined and clinical details tabulated: phenotypic anomalies, cleft types, operative treatment, and results of repair. CHARGE syndrome was confirmed in 44 patients: 11 (25%) had cleft lip and palate and 1 had cleft palate only. Surgical treatment followed our usual protocols. Two patients with cardiac anomalies had prolonged recovery following surgical correction, necessitating palatal closure prior to nasolabial repair. One of these patients was too old for dentofacial orthopedics and underwent combined premaxillary setback and palatoplasty, prior to labial closure. Velopharyngeal insufficiency was frequent (n = 3/7). All patients had feeding difficulty and required a gastrostomy tube. All patients had neurosensory hearing loss; anomalies of the semicircular canals were frequent (n = 3/4). External auricular anomalies, colobomas, and cardiovascular anomalies were also common (n = 8/11). Other associated anomalies were choanal atresia (n = 4/11) and tracheoesophageal fistula (n = 2/11). CHARGE syndrome is an under-recognized genetic cause of cleft lip and palate. Hearing loss and speech and feeding difficulties often occur in these infants. Diagnosis can be delayed if the child presents with covert phenotypic features, such as chorioretinal colobomas, semicircular canal hypoplasia, and unilateral choanal atresia.

  19. REGULATED VESICULAR TRAFFICKING OF SPECIFIC PCDH15 AND VLGR1 VARIANTS IN AUDITORY HAIR CELLS

    Science.gov (United States)

    Zallocchi, Marisa; Delimont, Duane; Meehan, Daniel T.; Cosgrove, Dominic

    2012-01-01

    Usher syndrome is a genetically heterogeneous disorder characterized by hearing and balance dysfunction and progressive retinitis pigmentosa. Mouse models carrying mutations for the nine Usher-associated genes have splayed stereocilia and some show delayed maturation of ribbon synapses suggesting these proteins may play different roles in terminal differentiation of auditory hair cells. The presence of the Usher proteins at the basal and apical aspects of the neurosensory epithelia suggests the existence of regulated trafficking through specific transport proteins and routes. Immature mouse cochleae and UB/OC-1 cells were used in this work to address whether specific variants of PCDH15 and VLGR1 are being selectively transported to opposite poles of the hair cells. Confocal co-localization studies between apical and basal vesicular markers and the different PCDH15 and VLGR1 variants along with sucrose density gradients and the use of vesicle trafficking inhibitors show the existence of Usher protein complexes in at least two vesicular sub-pools. The apically trafficked pool co-localized with the early endosomal vesicle marker, rab5, while the basally trafficked pool associates with membrane microdomains and SNAP25. Moreover, co-immunoprecipitation experiments between SNAP25 and VLGR1 show a physical interaction of these two proteins in organ of Corti and brain. Collectively, these findings establish the existence of a differential vesicular trafficking mechanism for specific Usher protein variants in mouse cochlear hair cells, with the apical variants playing a potential role in endosomal recycling and stereocilia development/maintenance and the basolateral variants involved in vesicle docking and/or fusion through SNAP25-mediated interactions. PMID:23035094

  20. Developmental outcome of low birth-weight and preterm newborns: a re-view of current evidence

    Directory of Open Access Journals (Sweden)

    Farin Soleimani

    2013-12-01

    Full Text Available Low birth weight (LBW and preterm birth are one the most important causes of death in the world and therefore are considered as one of the major health problems. Global statistics demonstrates an increase in the prevalence of low birth weight in the developing countries. Low birth weight infants are exposed to complications such as major neurosensory impairements, cerebral palsy, cognitive and language delays, neuromotor developmental delay, blindness and hearing loss, behavioral and psychosocial disorders, learning difficulties and dysfunction in scholastic performances. The majority of infant's death and developmental disorders were due to disorders relating to prematurity and unspecified low birth weight. Infants weighing less than 2500 g, is a major determinant of both neonatal and infant mortality rates and, together with congenital anomalies (e.g., cardiac, central nervous system, and respiratory, contributes significantly to childhood morbidity. Various studies indicate that low birth weight infants are suffering from physiological and psychosocial disabilities, two to three times more than the other children. At school age, preterm and low birth weight infants have poorer physical growth, cognitive function, and school performance. These disadvantages appear to persist into adulthood and therefore have broad implications for society. Although the survival rates have increased dramatically and the incidence of morbidities has decreased, the complications are still considered to be associated with economical and social burdens. Most children with Low birth weight suffer from multiple disabilities. Therefore, they need special and consistent care. On demand of reducing the infant mortality rate, the need to decrease the complications in low birth weight and preterm infants should be considered by the policy makers in health care system. In this review article, we assessed current evidences on developmental outcomes of low birth weight and

  1. Neonatal Glycemia and Neurodevelopmental Outcomes at 2 Years.

    Science.gov (United States)

    McKinlay, Christopher J D; Alsweiler, Jane M; Ansell, Judith M; Anstice, Nicola S; Chase, J Geoffrey; Gamble, Gregory D; Harris, Deborah L; Jacobs, Robert J; Jiang, Yannan; Paudel, Nabin; Signal, Matthew; Thompson, Benjamin; Wouldes, Trecia A; Yu, Tzu-Ying; Harding, Jane E

    2015-10-15

    Neonatal hypoglycemia is common and can cause neurologic impairment, but evidence supporting thresholds for intervention is limited. We performed a prospective cohort study involving 528 neonates with a gestational age of at least 35 weeks who were considered to be at risk for hypoglycemia; all were treated to maintain a blood glucose concentration of at least 47 mg per deciliter (2.6 mmol per liter). We intermittently measured blood glucose for up to 7 days. We continuously monitored interstitial glucose concentrations, which were masked to clinical staff. Assessment at 2 years included Bayley Scales of Infant Development III and tests of executive and visual function. Of 614 children, 528 were eligible, and 404 (77% of eligible children) were assessed; 216 children (53%) had neonatal hypoglycemia (blood glucose concentration, Hypoglycemia, when treated to maintain a blood glucose concentration of at least 47 mg per deciliter, was not associated with an increased risk of the primary outcomes of neurosensory impairment (risk ratio, 0.95; 95% confidence interval [CI], 0.75 to 1.20; P=0.67) and processing difficulty, defined as an executive-function score or motion coherence threshold that was more than 1.5 SD from the mean (risk ratio, 0.92; 95% CI, 0.56 to 1.51; P=0.74). Risks were not increased among children with unrecognized hypoglycemia (a low interstitial glucose concentration only). The lowest blood glucose concentration, number of hypoglycemic episodes and events, and negative interstitial increment (area above the interstitial glucose concentration curve and below 47 mg per deciliter) also did not predict the outcome. In this cohort, neonatal hypoglycemia was not associated with an adverse neurologic outcome when treatment was provided to maintain a blood glucose concentration of at least 47 mg per deciliter. (Funded by the Eunice Kennedy Shriver National Institute of Child Health and Human Development and others.).

  2. Current physical activity improves balance control during sensory conflicting conditions in older adults.

    Science.gov (United States)

    Buatois, S; Gauchard, G C; Aubry, C; Benetos, A; Perrin, P

    2007-01-01

    Aging process is characterized by difficulties in ensuring balance control, especially in conditions of reduced or conflicting sensory information, leading to an increased risk of falling. Conversely, the practise of physical activities (PA) has been recognized as a good approach to improve the quality of balance control. This study aimed to investigate the influence of current and/or past PA on balance-related neurosensorial organization in older adults on the maintenance of the upright stance, especially during sensory conflicting situations. Postural control was evaluated by means of the Sensory Organization Test on 130 healthy noninstitutionalized volunteers aged over 65, split into four groups according to the presence or absence of PA before or after retirement. Subjects who practised PA for a long time (Gr1) and subjects who started PA after retirement (Gr2) displayed the best postural performances and better managed sensory conflicting situations compared to subjects who had stopped PA for many years (Gr3) and subjects who had never practised PA (Gr4). Multiple regression analyses revealed that current PA was the major determinant for postural parameters during sensorial conflict compared to age, gender, body mass index and past PA. Regular PA, even when started late in life, allows appropriate reorganization of the different components of postural control during sensory conflicting situations. Indeed, active subjects were more able to compensate for suppressed or perturbed sensory information by an increased usage of another referential and so to correct their posture by adopting a more appropriate balance strategy. Thus, PA counteracts the age-related decline of postural control and could consequently reduce the risk of falling.

  3. Immediate and long-term changes of fundus autofluorescence in continuous wave laser lesions of the retina.

    Science.gov (United States)

    Framme, Carsten; Roider, Johann

    2004-01-01

    To determine whether fundus autofluorescence imaging is able to show changes in retinal pigment epithelium (RPE) fluorescence after thermal laser photocoagulation. In vivo imaging of fundus autofluorescence was performed with a scanning laser ophthalmoscope. A laser with a wavelength of 488 nm was used for excitation of the tissue and autofluorescence was detected above 500 nm using a barrier filter. One hundred eight eyes of 87 patients who had had previous laser treatment were monitored. The appearance and size of the laser lesions were documented and correlated to the time of treatment. Immediate changes were observed prospectively in 13 eyes; long-term follow-up was studied retrospectively in 95 eyes. In all patients but one, autofluorescence was decreased in the area of laser lesions 1 hour after laser treatment. After 1 month, previously decreased autofluorescence in all lesions changed to significantly increased autofluorescence, which was stable up to 6 months after treatment. Mixed forms were present approximately 6 to 12 months after treatment, showing a central island of increased autofluorescence surrounded by a ring of decreased autofluorescence. After 1 to 2 years, lesions again changed to complete dark spots, enlarging later on. RPE destruction and subsequent proliferation after continuous wave laser photocoagulation can be visualized noninvasively by autofluorescence imaging. Immediate decreased autofluorescence may indicate acute damage of the RPE, subsequent increased autofluorescence seems to indicate proliferative behavior of the RPE, and final dark spots can indicate RPE atrophy secondary to a denaturation of neurosensory retinal tissue. Thus, autofluorescence can be used in the long-term monitoring of RPE changes after laser treatment. The enlargement of the laser atrophy zone demonstrates the potential risk of visual loss after central laser photocoagulation even years after treatment.

  4. Thyroid peroxidase: evidence for disease gene exclusion in Pendred's syndrome.

    Science.gov (United States)

    Gausden, E; Armour, J A; Coyle, B; Coffey, R; Hochberg, Z; Pembrey, M; Britton, K E; Grossman, A; Reardon, W; Trembath, R

    1996-04-01

    Pendred's syndrome is an association between congenital neurosensory deafness and goitre with abnormal discharge of iodide following perchlorate challenge, indicating a defect of iodide organification. Although Pendred's syndrome may cause up to 7.5% of all cases of congenital deafness, the molecular basis of the association between the hearing loss and the thyroid organification defect remains unknown. We chose to investigate the role of the thyroid peroxidase (TPO) gene as the genetic defect in Pendred's syndrome. A highly informative variable number tandem repeat (VNTR), located 1.5 kb downstream of exon 10 of the TPO gene, was used to search for genetic linkage in multiple sibships affected by Pendred's syndrome. Seven kindreds were recruited from the UK, each with at least two affected members. We have also examined a large inbred Israeli family with two affected offspring and five unaffected children. Individuals were assigned affected status based on the characteristic clinical features of Pendred's syndrome, namely the presence of congenital sensorineural hearing loss and the appearance in early life of a goitre. Additionally, at least one affected member from each sibship had a characteristic positive perchlorate discharge test (Morgans & Trotter, 1958). PCR amplification of genomic DNA at the TPO VNTR allowed assignment of genotypes to each individual and the calculation of a two-point LOD score. In six of the nine sibships analysed we found obligatory recombination between TPO and Pendred's syndrome. Non-complementation observed in affected parents with an affected offspring excluded TPO in an affected sibship with genotype sharing and supports a hypothesis of genetic homogeneity for Pendred's syndrome. In two sibships, mutation of the TPO gene as the cause of Pendred's syndrome could not be excluded. These data suggest that defects at the thyroid peroxidase locus on chromosome 2 are not the major cause of Pendred's syndrome.

  5. TFOS DEWS II pathophysiology report.

    Science.gov (United States)

    Bron, Anthony J; de Paiva, Cintia S; Chauhan, Sunil K; Bonini, Stefano; Gabison, Eric E; Jain, Sandeep; Knop, Erich; Markoulli, Maria; Ogawa, Yoko; Perez, Victor; Uchino, Yuichi; Yokoi, Norihiko; Zoukhri, Driss; Sullivan, David A

    2017-07-01

    The TFOS DEWS II Pathophysiology Subcommittee reviewed the mechanisms involved in the initiation and perpetuation of dry eye disease. Its central mechanism is evaporative water loss leading to hyperosmolar tissue damage. Research in human disease and in animal models has shown that this, either directly or by inducing inflammation, causes a loss of both epithelial and goblet cells. The consequent decrease in surface wettability leads to early tear film breakup and amplifies hyperosmolarity via a Vicious Circle. Pain in dry eye is caused by tear hyperosmolarity, loss of lubrication, inflammatory mediators and neurosensory factors, while visual symptoms arise from tear and ocular surface irregularity. Increased friction targets damage to the lids and ocular surface, resulting in characteristic punctate epithelial keratitis, superior limbic keratoconjunctivitis, filamentary keratitis, lid parallel conjunctival folds, and lid wiper epitheliopathy. Hybrid dry eye disease, with features of both aqueous deficiency and increased evaporation, is common and efforts should be made to determine the relative contribution of each form to the total picture. To this end, practical methods are needed to measure tear evaporation in the clinic, and similarly, methods are needed to measure osmolarity at the tissue level across the ocular surface, to better determine the severity of dry eye. Areas for future research include the role of genetic mechanisms in non-Sjögren syndrome dry eye, the targeting of the terminal duct in meibomian gland disease and the influence of gaze dynamics and the closed eye state on tear stability and ocular surface inflammation. Copyright © 2017 Elsevier Inc. All rights reserved.

  6. Space Life Sciences at NASA: Spaceflight Health Policy and Standards

    Science.gov (United States)

    Davis, Jeffrey R.; House, Nancy G.

    2006-01-01

    implement an overall Risk Management and Analysis process. Currently NASA is drafting spaceflight health standards for neurosensory alterations, space radiation exposure, behavioral health, muscle atrophy, cardiovascular fitness, immunological compromise, bone demineralization, and nutrition.

  7. Use of Virtual Reality for Space Flight

    Science.gov (United States)

    Harm, Deborah; Taylor, L. C.; Reschke, M. F.

    2011-01-01

    Virtual environments offer unique training opportunities, particularly for training astronauts and preadapting them to the novel sensory conditions of microgravity. Two unresolved human factors issues in virtual reality (VR) systems are: 1) potential "cybersickness", and 2) maladaptive sensorimotor performance following exposure to VR systems. Interestingly, these aftereffects are often quite similar to adaptive sensorimotor responses observed in astronauts during and/or following space flight. Active exploratory behavior in a new environment, with resulting feedback and the formation of new associations between sensory inputs and response outputs, promotes appropriate perception and motor control in the new environment. Thus, people adapt to consistent, sustained alterations of sensory input such as those produced by microgravity. Our research examining the effects of repeated exposures to a full field of view dome VR system showed that motion sickness and initial decrements in eye movement and postural control were greatly diminished following three exposures. These results suggest that repeated transitions between VR and the normal environment preflight might be a useful countermeasure for neurosensory and sensorimotor effects of space flight. The range of VR applications is enormous, extending from ground-based VR training for extravehicular activities at NASA, to medical and educational uses. It seems reasonable to suggest that other space related uses of VR should be investigated. For example, 1) use of head-mounted VR on orbit to rehearse/practice upcoming operational activities, and 2) ground-based VR training for emergency egress procedures. We propose that by combining VR designed for operational activities preflight, along with an appropriate schedule to facilitate sensorimotor adaptation and improve spatial orientation would potentially accomplish two important goals for astronauts and cosmonauts, preflight sensorimotor adaption and enhanced operational

  8. Influence of skin cold sensation threshold in the occurrence of dental sensitivity during dental bleaching: a placebo controlled clinical trial

    Directory of Open Access Journals (Sweden)

    Vanessa Rahal

    2018-01-01

    Full Text Available Abstract Objective This study verified the occurrence of dental sensitivity in patients submitted to a 35% hydrogen peroxide based product (Whiteness HP Maxx 35% – FGM, skin cold sensation threshold (SCST and its influence on dental sensitivity. Material and Methods Sixty volunteers were divided into 4 groups (n = 15, according to SCST (low: GI and GIII, and high: GII and IV and bleaching treatment (hydrogen peroxide: GI and GII, and placebo: GIII and GIV. SCST was determined in the inner forearm for 6 different times using a neurosensory analyzer, the TSA II (Medoc Advanced Medical Systems, Ramat Yishai, Northern District, Israel. Dental sensitivity measurements were performed 10 different times using a thermal stimulus and an intraoral device attached to TSA II, positioned in the buccal surface of the upper right central incisor. Spontaneous dental sensitivity was also determined using the Visual Analogue Scale (VAS. Data were submitted to Student's t-test and Pearson's Correlation Test (α=0.05. SCST remained the same during bleaching treatment. Results Distinct responses of dental sensitivity were found in patients with low and high SCST during the first and third bleaching session (p≤0.05. The teeth submitted to the bleaching treatment became more sensitive to cold than those treated with placebo. Moreover, data obtained with TSA and VAS presented moderate correlation. Conclusions Bleaching treatment increased dental sensitivity and skin cold sensation threshold might represent a determining factor in this occurrence, since low and high SCST patients had different responses to the thermal stimulus in the teeth.

  9. European Society for Paediatric Endocrinology Consensus Guidelines on Screening, Diagnosis, and Management of Congenital Hypothyroidism

    Science.gov (United States)

    Léger, Juliane; Olivieri, Antonella; Donaldson, Malcolm; Torresani, Toni; Krude, Heiko; van Vliet, Guy; Polak, Michel

    2014-01-01

    Objective: The aim was to formulate practice guidelines for the diagnosis and management of congenital hypothyroidism (CH). Evidence: A systematic literature search was conducted to identify key articles relating to the screening, diagnosis, and management of CH. The evidence-based guidelines were developed with the Grading of Recommendations, Assessment, Development and Evaluation (GRADE) system, describing both the strength of recommendations and the quality of evidence. In the absence of sufficient evidence, conclusions were based on expert opinion. Consensus Process: Thirty-two participants drawn from the European Society for Paediatric Endocrinology and five other major scientific societies in the field of pediatric endocrinology were allocated to working groups with assigned topics and specific questions. Each group searched the literature, evaluated the evidence, and developed a draft document. These papers were debated and finalized by each group before presentation to the full assembly for further discussion and agreement. Recommendations: The recommendations include: worldwide neonatal screening, approaches to assess the cause (including genotyping) and the severity of the disorder, the immediate initiation of appropriate L-T4 supplementation and frequent monitoring to ensure dose adjustments to keep thyroid hormone levels in the target ranges, a trial of treatment in patients suspected of transient CH, regular assessments of developmental and neurosensory functions, consulting health professionals as appropriate, and education about CH. The harmonization of diagnosis, management, and routine health surveillance would not only optimize patient outcomes, but should also facilitate epidemiological studies of the disorder. Individuals with CH require monitoring throughout their lives, particularly during early childhood and pregnancy. PMID:24446653

  10. Ontogenetic Shape Change in the Chicken Brain: Implications for Paleontology.

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    Soichiro Kawabe

    Full Text Available Paleontologists have investigated brain morphology of extinct birds with little information on post-hatching changes in avian brain morphology. Without the knowledge of ontogenesis, assessing brain morphology in fossil taxa could lead to misinterpretation of the phylogeny or neurosensory development of extinct species. Hence, it is imperative to determine how avian brain morphology changes during post-hatching growth. In this study, chicken brain shape was compared at various developmental stages using three-dimensional (3D geometric morphometric analysis and the growth rate of brain regions was evaluated to explore post-hatching morphological changes. Microscopic MRI (μMRI was used to acquire in vivo data from living and post-mortem chicken brains. The telencephalon rotates caudoventrally during growth. This change in shape leads to a relative caudodorsal rotation of the cerebellum and myelencephalon. In addition, all brain regions elongate rostrocaudally and this leads to a more slender brain shape. The growth rates of each brain region were constant and the slopes from the growth formula were parallel. The dominant pattern of ontogenetic shape change corresponded with interspecific shape changes due to increasing brain size. That is, the interspecific and ontogenetic changes in brain shape due to increased size have similar patterns. Although the shape of the brain and each brain region changed considerably, the volume ratio of each brain region did not change. This suggests that the brain can change its shape after completing functional differentiation of the brain regions. Moreover, these results show that consideration of ontogenetic changes in brain shape is necessary for an accurate assessment of brain morphology in paleontological studies.

  11. Use of nouns and verbs in the oral narrative of individuals with hearing impairment and normal hearing between 5 and 11 years of age

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    Erica Endo Amemiya

    Full Text Available CONTEXT AND OBJECTIVE: Nouns and verbs indicate actions in oral communication. However, hearing impairment can compromise the acquisition of oral language to such an extent that appropriate use of these can be challenging. The objective of this study was to compare the use of nouns and verbs in the oral narrative of hearing-impaired and hearing children. DESIGN AND SETTING: Analytical cross-sectional study at the Department of Speech-Language and Hearing Sciences, Universidade Federal de São Paulo. METHODS: Twenty-one children with moderate to profound bilateral neurosensory hearing impairment and twenty-one with normal hearing (controls were matched according to sex, school year and school type. A board showing pictures was presented to each child, to elicit a narrative and measure their performance in producing nouns and verbs. RESULTS: Twenty-two (52.4% of the subjects were males. The mean age was 8 years (standard deviation, SD = 1.5. Comparing averages between the groups of boys and girls, we did not find any significant difference in their use of nouns, but among verbs, there was a significant difference regarding use of the imperative (P = 0.041: more frequent among boys (mean = 2.91. There was no significant difference in the use of nouns and verbs between deaf children and hearers, in relation to school type. Regarding use of the indicative, there was a nearly significant trend (P = 0.058. CONCLUSION: Among oralized hearing-impaired children who underwent speech therapy, their performance regarding verbs and noun use was similar to that of their hearing counterparts.

  12. The R245X mutation of PCDH15 in Ashkenazi Jewish children diagnosed with nonsyndromic hearing loss foreshadows retinitis pigmentosa.

    Science.gov (United States)

    Brownstein, Zippora; Ben-Yosef, Tamar; Dagan, Orit; Frydman, Moshe; Abeliovich, Dvorah; Sagi, Michal; Abraham, Fabian A; Taitelbaum-Swead, Riki; Shohat, Mordechai; Hildesheimer, Minka; Friedman, Thomas B; Avraham, Karen B

    2004-06-01

    Usher syndrome is a frequent cause of the combination of deafness and blindness due to retinitis pigmentosa (RP). Five genes are known to underlie different forms of Usher syndrome type I (USH1). In the Ashkenazi Jewish population, the R245X mutation of the PCDH15 gene may be the most common cause of USH1 (Ben-Yosef T, Ness SL, Madeo AC, Bar-Lev A, Wolfman JH, Ahmed ZM, Desnick RK, Willner JP, Avraham KB, Ostrer H, Oddoux C, Griffith AJ, Friedman TB N Engl J Med 348: 1664-1670, 2003). To estimate what percentage of Ashkenazi Jewish children born with profound hearing loss will develop RP due to R245X, we examined the prevalence of the R245X PCDH15 mutation and its carrier rate among Ashkenazi Jews in Israel. Among probands diagnosed with nonsyndromic hearing loss not due to mutations of connexin 26 (GJB2) and/or connexin 30 (GJB6), and below the age of 10, 2 of 20 (10%) were homozygous for the R245X mutation. Among older nonsyndromic deaf individuals, no homozygotes were detected, although one individual was heterozygous for R245X. The carrier rate of the R245X mutation among the normal hearing Ashkenazi population in Israel was estimated at 1%. Ashkenazi Jewish children with profound prelingual hearing loss should be evaluated for the R245X PCDH15 mutation and undergo ophthalmologic evaluation to determine whether they will develop RP. Rehabilitation can then begin before loss of vision. Early use of cochlear implants in such cases may rescue these individuals from a dual neurosensory deficit.

  13. Needs in omega 3 and ocular pathologies

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    Bretillon Lionel

    2011-09-01

    Full Text Available Life expectancy at birth has regularly increased decade after decade, especially since the beginning of the 20th century: 15 years have been gained over the past 50 years. Changes in living and dietary habits during this time period have been associated with the development of various pathologies which represent a growing socioeconomic burden. Among age-related disorders, ocular diseases are the second most prevalent ones after 65 years. Age-related Macular Degeneration (AMD is the leading cause of visual impairment after the age of 50 years. Age is the prominent risk factor for AMD and is accompanied with both endogenous (including genetics and environmental factors, such as smoking habits and dietary factors (diet rich in cholesterol and saturated fatty acids. AMD is characterized by the loss of cells at the most central area of the retina, called macula. The neural retina is a highly structured neurosensory tissue that is responsible for the transduction pathway. The transduction pathway is initiated in photoreceptors where the light stimulus is coded into an electrical signal. This signal is transmitted to neighboured neurons and transferred to the brain via the optic nerve. The retinal pigment epithelium (RPE is the cellular and metabolic interface between the neural retina and choriocapillaris through Bruch’s membrane. The close association between RPE and photoreceptors is one of the factors that promote the efficacy of RPE to, in the one hand, provide nutrients and oxygen to photoreceptors and, in the other hand, eliminate the metabolic debris originating from shedding of the outer segments. Epidemiological data suggest that dietary habits privileging the consumption of omega- 3 long chain polyunsaturated fatty acids participate to prevent from the development of AMD (Sangiovanni et al., 2009. The mechanisms underlying the effects of omega-3 fatty acids remain unclear until now. The purpose of the present paper is to give a review on

  14. Socioeconomic Attainment of Extremely Low Birth Weight Survivors: The Role of Early Cognition.

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    Dobson, Kathleen G; Ferro, Mark A; Boyle, Michael H; Schmidt, Louis A; Saigal, Saroj; Van Lieshout, Ryan J

    2017-03-01

    To determine: (1) if childhood cognitive and academic abilities mediate the association between being born at extremely low birth weight (ELBW) and socioeconomic attainment at age 29 to 36 years; (2) which cognitive abilities (IQ, verbal abilities, fluid intelligence, mathematical abilities, or academic achievement) most strongly mediate this association; and (3) if the mediating role of cognition is different in ELBW survivors with significant neurosensory impairment (NSI). A prospective, longitudinal cohort of 100 Canadian ELBW survivors born between 1977 and 1982 and 89 normal birth weight comparison participants were used to examine the mediating role of childhood cognition by using 5 cognitive mediators assessed at age 8 years (overall IQ, verbal IQ, performance IQ, quantitative ability, and academic achievement) on socioeconomic attainment at adulthood. Socioeconomic attainment was defined as personal annual earnings and full-time employment assessed via self-report at age 29 to 36 years. Mediation models revealed that childhood cognition mediated the association between ELBW status and income attainment, with mathematical abilities and overall IQ each accounting for 26% of the direct effect. Mediated effects were not statistically significant in full-time employment models. For both outcomes, the mediating effect of cognition was stronger for ELBW survivors with NSI. Childhood cognitive abilities partially mediate associations between ELBW status and adult income attainment. Early life cognition is a critical predictor of socioeconomic attainment in ELBW survivors, particularly in those born with NSI. Interventions aimed at enhancing early cognition in ELBW survivors may help optimize their later socioeconomic attainment. Copyright © 2017 by the American Academy of Pediatrics.

  15. Evaluation of early childhood social-communication difficulties in children born preterm using the Quantitative Checklist for Autism in Toddlers.

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    Wong, Hilary S; Huertas-Ceballos, Angela; Cowan, Frances M; Modi, Neena

    2014-01-01

    To characterize early childhood social-communication skills and autistic traits in children born very preterm using the Quantitative Checklist for Autism in Toddlers (Q-CHAT) and explore neonatal and sociodemographic factors associated with Q-CHAT scores. Parents of children born before 30 weeks gestation and enrolled in a study evaluating routinely collected neurodevelopmental data between the post-menstrual ages of 20 and 28 months were invited to complete the Q-CHAT questionnaire. Children with severe neurosensory disabilities and cerebral palsy were excluded. Participants received neurodevelopmental assessments using the Bayley Scales of Infant and Toddler Development, 3rd edition (Bayley-III). Q-CHAT scores of this preterm cohort were compared with published general population scores. The association between Bayley-III cognitive and language scores and neonatal and sociodemographic factors with Q-CHAT scores were examined. Q-CHAT questionnaires were completed from 141 participants. At a mean post-menstrual age of 24 months, the Q-CHAT scores of the preterm cohort (mean 33.7, SD 8.3) were significantly higher than published general population scores (mean 26.7; SD 7.8), indicating greater social-communication difficulty and autistic behavior. Preterm children received higher scores, particularly in the categories of restricted, repetitive, stereotyped behavior, communication, and sensory abnormalities. Lower Bayley-III language scores and non-white ethnicity were associated with higher Q-CHAT scores. Preterm children display greater social-communication difficulty and autistic behavior than the general population in early childhood as assessed by the Q-CHAT. The implications for longer-term outcome will be important to assess. Copyright © 2014 Mosby, Inc. All rights reserved.

  16. Sympathetic ophthalmitis following vitreoretinal surgery: Does antecedent trauma make a difference?

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    Ekta Rishi

    2015-01-01

    Full Text Available Background: Sympathetic ophthalmitis (SO has been reported following vitrectomy; however, there is a lack of data on the role of antecedent penetrating ocular trauma impacting the disease manifestation in eyes developing SO following vitrectomy. Aim: To report differences in the presentation and outcomes of SO in eyes with or without a history of antecedent penetrating trauma; SO being diagnosed after vitreoretinal (VR surgery. Design: Comparative case series. Methods: Seventeen consecutive patients presenting with SO following VR surgery, diagnosed between 1995 and 2011 were included. Eyes with and without prior penetrating injury were included in Group I (n = 7 and Group II (n = 10, respectively. All Group I patients had received systemic steroids prior to presentation. Demographic and clinical parameters were evaluated. Results: Differences were observed between Group I and Group II mainly with regards to time interval between VR surgery and diagnosis of SO (1.5 months vs. 8 months, P = 0.10, presence of neurosensory detachments (100% vs. 30%, P = 0.01, and the inciting eye vision at presentation (nil light perception in 28.5% vs. 80%, P = 0.049. Other differences observed though not statistically significant were optic disc and retinal vessel involvement (42% vs. 70%, P = 0.28, Dalen-Fuchs nodules (localized vs. diffuse and leaks on fundus fluorescein angiography (pin-head vs. pin-point leak. Conclusion: SO in patients with antecedent penetrating ocular trauma present early with the central serous chorioretinopathy-like picture. Prior use of systemic steroids might have a bearing on the differences in presentation and the visual acuities between the two groups.

  17. IGF-1 deficiency causes atrophic changes associated with upregulation of VGluT1 and downregulation of MEF2 transcription factors in the mouse cochlear nuclei.

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    Fuentes-Santamaría, V; Alvarado, J C; Rodríguez-de la Rosa, L; Murillo-Cuesta, S; Contreras, J; Juiz, J M; Varela-Nieto, I

    2016-03-01

    Insulin-like growth factor 1 (IGF-1) is a neurotrophic protein that plays a crucial role in modulating neuronal function and synaptic plasticity in the adult brain. Mice lacking the Igf1 gene exhibit profound deafness and multiple anomalies in the inner ear and spiral ganglion. An issue that remains unknown is whether, in addition to these peripheral abnormalities, IGF-1 deficiency also results in structural changes along the central auditory pathway that may contribute to an imbalance between excitation and inhibition, which might be reflected in abnormal auditory brainstem responses (ABR). To assess such a possibility, we evaluated the morphological and physiological alterations in the cochlear nucleus complex of the adult mouse. The expression and distribution of the vesicular glutamate transporter 1 (VGluT1) and the vesicular inhibitory transporter (VGAT), which were used as specific markers for labeling excitatory and inhibitory terminals, and the involvement of the activity-dependent myocyte enhancer factor 2 (MEF2) transcription factors in regulating excitatory synapses were assessed in a 4-month-old mouse model of IGF-1 deficiency and neurosensorial deafness (Igf1 (-/-) homozygous null mice). The results demonstrate decreases in the cochlear nucleus area and cell size along with cell loss in the cochlear nuclei of the deficient mouse. Additionally, our results demonstrate that there is upregulation of VGluT1, but not VGAT, immunostaining and downregulation of MEF2 transcription factors together with increased wave II amplitude in the ABR recording. Our observations provide evidence of an abnormal neuronal cytoarchitecture in the cochlear nuclei of Igf1 (-/-) null mice and suggest that the increased efficacy of glutamatergic synapses might be mediated by MEF2 transcription factors.

  18. Effects of a Sensory Stimulation by Nurses and Families on Level of Cognitive Function, and Basic Cognitive Sensory Recovery of Comatose Patients With Severe Traumatic Brain Injury: A Randomized Control Trial.

    Science.gov (United States)

    Moattari, Marzieh; Alizadeh Shirazi, Fatemeh; Sharifi, Nasrin; Zareh, Najaf

    2016-09-01

    Several lines of evidence suggest that early sensory stimulation and regular family visiting programs are potential nursing interventions to improve the outcomes of head injured comatose patients. However, little is known about the impacts of family involvement in providing sensory stimulation. To determine the effects of a sensory stimulation program conducted by nurses and families on the consciousness, level of cognitive function, and basic cognitive sensory recovery of head injury comatose patients. This was a randomized clinical trial performed at the Shiraz level I trauma center including 60 head injured comatose patients with an initial Glasgow coma score (GCS) of less than 8. Patients were randomly assigned to receive sensory stimulation by a qualified nurse (nurse group; n = 20), by the family (family group; n = 20), or usual care (control group; n = 20). The sensory stimulation program involving the nurses and patients' families was conducted, twice daily, in the morning and evening for 7 days. The level of consciousness, level of cognitive function, and basic cognitive sensory recovery of the patients were evaluated and monitored using the GCS, Rancho Los Amigos (RLA), and Western Neuro-Sensory stimulation profile (WNSSP). Data were analyzed by chi square, Kruskal-Wallis, and repeated-measures tests using SPSS. All the patients were comparable regarding their baseline characteristics, level of consciousness, level of cognitive function, and basic cognitive sensory recovery determined by GCS, RLA, and WNSSP. Although the two intervention groups of the study improved, those who received the sensory stimulation program from their families had significantly higher GCS (P = 0.001), RLA (P = 0.001), and WNSSP (P = 0.001) scores after 7 days when compared to the two other groups. The application of sensory stimulation by families led to significant increases in the consciousness, level of cognitive function, and basic cognitive sensory recovery of comatose

  19. Neurological Assessment Using a Quantitative Sensory Test in Patients with Chronic Unilateral Orofacial Pain.

    Science.gov (United States)

    Salame, Talal H; Blinkhorn, Antony; Karami, Zahra

    2018-01-01

    Quantitative Sensory Testing (QST) has been used in clinical and experimental settings to establish sensory assessment for different types of pains, and may be a useful tool for the assessment of orofacial pain, but this premise needs to be tested. The aim of the study was to evaluate responses to thermal stimuli between painful and non-painful facial sites in subjects with orofacial pain using QST. A total of 60 participants (5o females: 28-83 years; 10 males: 44-81 years) with unilateral orofacial pain were recruited from the Orofacial Pain Clinic at the Pain Management and Research Centre, Royal North Shore Hospital, Sydney, Australia. The study followed the methods of limits of the German Research Network testing four modalities of thermal thresholds, the Warm Sensation, the Cold Sensation, the Heat Pain and the Cold Pain using a TSA-II Neurosensory Analyser. The results were compared to the results from the unaffected side of the same patient on the same area and a single t test statistical analysis was performed, where a p value of less than 0.05 was considered significant. The Mean Difference for Cold Sensation between the pain side and the non-pain side was 0.48 °C ± 1.5 (t= 2.466, p=0.017), 0.68 °C ± 2.04 for Warm Sensation (t= -2.573, p= 0.013), 2.56 °C ± 2.74 for Cold Pain (t= 7.238, pPain (t= -3.639, p=0.001). The study showed that QST methods using thermal stimuli could be used to evaluate sensory dysfunction in orofacial pain patients using the specific parameters of cool and warm sensation, and cold and hot pain.

  20. Thermal and pressure pain sensitivity in patients with unilateral shoulder pain: comparison of involved and uninvolved sides.

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    Coronado, Rogelio A; Kindler, Lindsay L; Valencia, Carolina; George, Steven Z

    2011-03-01

    Cross-sectional. In the examination of patients with unilateral shoulder pain, pain provocation testing to compare the involved and uninvolved sides has been considered useful. However, side-to-side comparisons of experimental pain sensitivity in patients with unilateral shoulder pain are not widely reported in the literature. To compare experimental pain sensitivity between the involved and uninvolved sides in patients with unilateral shoulder pain. In consecutive patients seeking operative treatment for shoulder pain, sensitivity measures of bilateral pressure pain threshold at the shoulder and forearm, and thermal pain threshold, tolerance, and temporal summation at the forearm, were examined. Pressure sensitivity was tested with a Fischer pressure algometer, and thermal sensitivity with a computer-controlled Medoc neurosensory analyzer. The involved and uninvolved sides were compared with an analysis of variance. Influence of sex and location of testing were considered as covariates in the analysis. Fifty-nine consecutively recruited participants completed experimental pain sensitivity testing. Participants reported significantly lower pressure pain thresholds in the involved side compared to the uninvolved side (F1,56 = 4.96, P = .030). In addition, female compared to male participants demonstrated lower pressure pain thresholds in the bilateral shoulder regions (F1,56 = 10.84, P = .002). There was no difference in thermal pain sensitivity between sides. Average clinical pain intensity was negatively correlated with pressure pain threshold at the involved local site (r = -0.284, P = .029), indicating an influence of clinical pain intensity on local pressure pain. The results of this study provide evidence for higher experimental pressure pain sensitivity in the involved side of patients with unilateral shoulder pain and no difference between sides for thermal pain sensitivity. Females demonstrated higher pain sensitivity than males to pressure stimuli at the

  1. Do healthy preterm children need neuropsychological follow-up? Preschool outcomes compared with term peers.

    Science.gov (United States)

    Dall'oglio, Anna M; Rossiello, Barbara; Coletti, Maria F; Bultrini, Massimiliano; DE Marchis, Chiara; Ravà, Lucilla; Caselli, Cristina; Paris, Silvana; Cuttini, Marina

    2010-10-01

    the aim of this study was to determine neuropsychological performance (possibly predictive of academic difficulties) and its relationship with cognitive development and maternal education in healthy preterm children of preschool age and age-matched comparison children born at term. a total of 35 infants who were born at less than 33 weeks' gestational age and who were free from major neurosensory disability (16 males, 19 females; mean gestational age 29.4wk, SD 2.2wk; mean birthweight 1257g, SD 327g) and 50 term-born comparison children (25 males, 25 females; mean birthweight 3459g, SD 585g) were assessed at 4 years of age. Cognition was measured using the Griffiths Mental Development scales while neuropsychological abilities (language, short-term memory, visual-motor and constructive spatial abilities, and visual processing) were assessed using standardized tests. Multivariable regression analysis was used to explore the effects of preterm birth and sociodemographic factors on cognition, and to adjust neuropsychological scores for cognitive level and maternal education. the mean total Griffiths score was significantly lower in preterm than in term children (97.4 vs 103.4; psiblings or a twin (β=4.0; 95% CI 0.5-7.6). At neuropsychological assessment, preterm children scored significantly lower than term comparison children in all tests except lexical production (Boston Naming Test) and visual-processing accuracy. After adjustment for cognitive level and maternal education, differences remained statistically significant for verbal fluency (pchildren to identify strengths and challenges before school entry, and to plan interventions aimed at maximizing academic success.

  2. Executive and Memory Function in Adolescents Born Very Preterm

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    Ment, Laura; Allan, Walter; Schneider, Karen; Vohr, Betty R.

    2011-01-01

    BACKGROUND: Many preterm children display school difficulties, which may be mediated by impairment in executive function and memory. OBJECTIVE: To evaluate executive and memory function among adolescents born preterm compared with term controls at 16 years. METHODS: A total of 337 of 437 (77%) adolescents born in 1989 to 1992 with a birth weight executive function and memory tasks. Multiple regression analyses were used to compare groups and to identify associations between selected factors and outcomes among preterm subjects. RESULTS: Adolescents born preterm, compared with term controls, showed deficits in executive function in the order of 0.4 to 0.6 SD on tasks of verbal fluency, inhibition, cognitive flexibility, planning/organization, and working memory as well as verbal and visuospatial memory. After exclusion of adolescents with neurosensory disabilities and full-scale IQ executive dysfunction, as measured with the Behavior Rating Inventory of Executive Function, on the Metacognition Index (odds ratio [OR]: 2.5 [95% confidence interval (CI): 1.2–5.1]) and the Global Executive Composite (OR: 4.2 [95% CI: 1.6–10.9]), but not on the Behavioral Regulation index (OR: 1.5 [95% CI: 0.7–3.5]). Among adolescents born preterm, severe brain injury on neonatal ultrasound and lower maternal education were the most consistent factors associated with poor outcomes. CONCLUSIONS: Even after exclusion of preterm subjects with significant disabilities, adolescents born preterm in the early 1990s were at increased risk of deficits in executive function and memory. PMID:21300680

  3. Transfer RNA and human disease

    Directory of Open Access Journals (Sweden)

    Jamie A Abbott

    2014-06-01

    Full Text Available Pathological mutations in tRNA genes and tRNA processing enzymes are numerous and result in very complicated clinical phenotypes. Mitochondrial tRNA (mt-tRNA genes are hotspots for pathological mutations and over 200 mt-tRNA mutations have been linked to various disease states. Often these mutations prevent tRNA aminoacylation. Disrupting this primary function affects protein synthesis and the expression, folding, and function of oxidative phosphorylation enzymes. Mitochondrial tRNA mutations manifest in a wide panoply of diseases related to cellular energetics, including COX deficiency (cytochrome C oxidase, mitochondrial myopathy, MERRF (Myoclonic Epilepsy with Ragged Red Fibers, and MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes. Diseases caused by mt-tRNA mutations can also affect very specific tissue types, as in the case of neurosensory non-syndromic hearing loss and pigmentary retinopathy, diabetes mellitus, and hypertrophic cardiomyopathy. Importantly, mitochondrial heteroplasmy plays a role in disease severity and age of onset as well. Not surprisingly, mutations in enzymes that modify cytoplasmic and mitochondrial tRNAs are also linked to a diverse range of clinical phenotypes. In addition to compromised aminoacylation of the tRNAs, mutated modifying enzymes can also impact tRNA expression and abundance, tRNA modifications, tRNA folding, and even tRNA maturation (e.g., splicing. Some of these pathological mutations in tRNAs and processing enzymes are likely to affect non-canonical tRNA functions, and contribute to the diseases without significantly impacting on translation. This chapter will review recent literature on the relation of mitochondrial and cytoplasmic tRNA, and enzymes that process tRNAs, to human disease. We explore the mechanisms involved in the clinical presentation of these various diseases with an emphasis on neurological disease.

  4. Usher protein functions in hair cells and photoreceptors.

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    Cosgrove, Dominic; Zallocchi, Marisa

    2014-01-01

    The 10 different genes associated with the deaf/blind disorder, Usher syndrome, encode a number of structurally and functionally distinct proteins, most expressed as multiple isoforms/protein variants. Functional characterization of these proteins suggests a role in stereocilia development in cochlear hair cells, likely owing to adhesive interactions in hair bundles. In mature hair cells, homodimers of the Usher cadherins, cadherin 23 and protocadherin 15, interact to form a structural fiber, the tip link, and the linkages that anchor the taller stereocilia's actin cytoskeleton core to the shorter adjacent stereocilia and the elusive mechanotransduction channels, explaining the deafness phenotype when these molecular interactions are perturbed. The conundrum is that photoreceptors lack a synonymous mechanotransduction apparatus, and so a common theory for Usher protein function in the two neurosensory cell types affected in Usher syndrome is lacking. Recent evidence linking photoreceptor cell dysfunction in the shaker 1 mouse model for Usher syndrome to light-induced protein translocation defects, combined with localization of an Usher protein interactome at the periciliary region of the photoreceptors suggests Usher proteins might regulate protein trafficking between the inner and outer segments of photoreceptors. A distinct Usher protein complex is trafficked to the ribbon synapses of hair cells, and synaptic defects have been reported in Usher mutants in both hair cells and photoreceptors. This review aims to clarify what is known about Usher protein function at the synaptic and apical poles of hair cells and photoreceptors and the prospects for identifying a unifying pathobiological mechanism to explain deaf/blindness in Usher syndrome. Copyright © 2013 Elsevier Ltd. All rights reserved.

  5. Novel INF2 mutations in an Italian cohort of patients with focal segmental glomerulosclerosis, renal failure and Charcot-Marie-Tooth neuropathy.

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    Caridi, Gianluca; Lugani, Francesca; Dagnino, Monica; Gigante, Maddalena; Iolascon, Achille; Falco, Mariateresa; Graziano, Claudio; Benetti, Elisa; Dugo, Mauro; Del Prete, Dorella; Granata, Antonio; Borracelli, Donella; Moggia, Elisabetta; Quaglia, Marco; Rinaldi, Rita; Gesualdo, Loreto; Ghiggeri, Gian Marco

    2014-09-01

    Mutations of INF2 represent the major cause of familial autosomal dominant (AD) focal segmental glomerulosclerosis (FSGS). A few patients present neurological symptoms of Charcot-Marie-Tooth (CMT) disease but the prevalence of the association has not been assessed yet. We screened 28 families with AD FSGS and identified 8 INF2 mutations in 9 families (32 patients overall), 3 of which were new. Mutations were in all cases localized in the diaphanous-inhibitory domain (DID) of the protein. Clinical features associated with INF2 mutations in our patient cohort included mild proteinuria (1.55 g/L; range 1-2.5) and haematuria as a unique symptom that was recognized at a median age of 21.75 years (range 8-30). Eighteen patients developed end-stage renal disease during their third decade of life; 12 patients presented a creatinine range between 1.2 and 1.5 mg/dL and 2 were healthy at 45 and 54 years of age. CMT was diagnosed in four cases (12.5%); one of these patients presented an already known mutation on exon 2 of INF2, whereas the other patients presented the same mutation on exon 4, a region that was not previously associated with CMT. We confirmed the high incidence of INF2 mutations in families with AD FSGS. The clinical phenotype was mild at the onset of the disease, but evolution to ESRD was frequent. The incidence of CMT has, for the first time, been calculated here to be 12.5% of mutation carriers. Our findings support INF2 gene analysis in families in which renal failure and/or neuro-sensorial defects are inherited following an AD model. © The Author 2014. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved.

  6. Very Preterm Birth and Parents' Quality of Life 27 Years Later.

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    Wolke, Dieter; Baumann, Nicole; Busch, Barbara; Bartmann, Peter

    2017-09-01

    Parents of preterm children experience increased distress early in their children's lives. Whether the quality of life of parents of preterm children is comparable to that of parents of term children by the time their offspring reach adulthood is unknown. What precursors in their offspring's childhood predict parental quality of life? A prospective whole-population study in Germany followed very preterm (VP) (parents (VP or VLBW: N = 219; term: N = 227) from birth to adulthood. Parental quality of life was evaluated with the World Health Organization Quality of Life assessment and the Satisfaction with Life questionnaire when their offspring were adults (mean age 27.3 years, 95% confidence interval [CI]: 27.2 to 27.3). Childhood standard assessments of VP or VLBW and term offspring included neurosensory disability, academic achievement, mental health, and parent-child and peer relationships. Overall quality of life of parents of VP or VLBW adults was found to be comparable to parents of term individuals ( P > .05). Parental quality of life was not predicted by their children being born VP or VLBW, experiencing disability, academic achievement, or the parent-child relationship in childhood but by their offspring's mental health (B = 0.15, 95% CI: 0.08 to 0.22) and peer relationships (B = 0.09, 95% CI: 0.02 to 0.16) in childhood. As a testament to resilience, parents of VP or VLBW adults had quality of life comparable to parents of term adults. Support and interventions to improve mental health and peer relationships in all children are likely to improve parents' quality of life. Copyright © 2017 by the American Academy of Pediatrics.

  7. Impact of epilepsy on children and parents in Gabon.

    Science.gov (United States)

    Ibinga, Euloge; Ngoungou, Edgard Brice; Olliac, Bertrand; Hounsossou, Cocou Hubert; Dalmay, François; Mouangue, Gertrude; Ategbo, Simon Jonas; Preux, Pierre-Marie; Druet-Cabanac, Michel

    2015-03-01

    Children with epilepsy and their parents face many social and psychological difficulties that remain insufficiently studied in sub-Saharan Africa. The aim here was to assess the quality of life of children with epilepsy and their parents. A community-based cross-sectional survey was conducted in two urban areas and four rural areas of Gabon. Children were screened through key informants, medical sources, and a door-to-door survey. They were clinically selected based on their medical history and a clinical exam conducted by the investigating physician. Electroencephalography had not been carried out because of a lack of material and financial resources. The quality of life of children and their parents was assessed by a structured interview of parents using a questionnaire. Of 317 suspected cases on screening, 83 children with epilepsy were identified. Their mean age was 11.9±4.4years. Twelve percent of the children had neurosensory abnormalities on clinical exam. Sixty-three percent of them attended school; factors associated with schooling were higher score on the sociability subscale, specialized medical advice, and antiepileptic drug treatment. Sociability difficulties, anxiety, cognitive impairment, and behavioral disorders were suspected in 39.8%, 45.8%, 49.4%, and 42.2% of children, respectively. A total of 48.2% of parents expressed a poor quality of life related to their children's illness. A higher score on the cognition subscale, urban residence, specialized medical advice, and a stable income in the household were predictive of poor parental quality of life. Epilepsy influences many aspects of a child's life and the life of the child's parents. Care should incorporate a cognitive assessment of the child and emphasize information for patients and their relatives. Copyright © 2015 Elsevier Inc. All rights reserved.

  8. Audiologic and otoacoustic emission evaluation in individuals exposed to noise and plaguecides

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    Morini, Renata Graziele

    2009-09-01

    Full Text Available Introduction: The noise induced hearing loss (NIHL has been studied for many years and today the specialized literature also studies the synergic action of chemicals. Objective: To research the audiologic findings and DPOAE in workers exposed to occupational noise and plaguecides and to compare them with data obtained in individuals without exposure to these harmful elements. Method: 51 individuals were evaluated (102 ears, divided into three groups. Group I was composed by 17 workers with exposure to noise and plaguecides, all with neurosensorial auditory loss; group II was composed by 17 workers with exposure to noise and plaguecides with audiometric thresholds within normality standards (up to 25 dBNA and group III by 17 healthy individuals without auditory alterations and without exposure to noise and plaguecides, control group. Results: In the audiologic anamnesis, as for groups I and II, we observed that the main auditory complaints presented by the workers were those of recruitment (29.5%, tinnitus (26.5%, allergy (23.5% and arterial hypertension (12%. The findings of the audiometry appointed that the research's individuals did not present with auditory losses in the frequencies of 500 Hz, 1 and 2 kHz, the losses occurred in the frequencies of 3 and 8 kHz. As for the distortion-product otoacoustic emissions (DPOAEs, we observed that the individuals in group III had a major incidence of responses when compared to those of groups I and II. Conclusion: The results analysis allowed us to conclude that the DPOAE test represents an important tool for follow up and prevention of NIHL.

  9. El contragolpe generado en el oído interno como etiopatogenia de la enfermedad de Méniére Water Hammer impact on the internal ear in the pathogenesis of Méniére's disease

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    William Alvarez Gaviria

    1992-02-01

    Full Text Available Se postula la hipótesis de que una de las funciones del saco endolinfático es hacer las veces de amortiguador de los contragolpes generados en el oído interno, como respuesta a las desaceleraciones súbitas ocasionadas en los Iíquidos laberínticos por el cambio o el frenado súbito de los movimientos. Si dicho amortiguador no reúne las condiciones suficientes para tal efecto como, por ejemplo, capacidad volumétrica y orientación adecuada, los contragolpes constituyen un trauma repetitivo sobre los elementos neurosensoriales estatoacústicos. De esta manera se origina en forma crónica, recurrente y lentamente progresiva, la enfermedad de Méniere. Se explica el procedimiento del experimento realizado con un modelo del oído Interno; se discuten las posibles repercusiones de esta hipótesis, no sólo en la sintomatología de la enfermedad de Méniere, sino también en la hidrocefalia normotensa de Hakim y sus implicaciones en la anatomía comparada This paper proposes the hypothesis that the endolymphatic sac acts as a shock absorber of the water hammer Impacts generated in the internal ear in response to decreases of acceleration in the laberynthine fluids during motion changes or sudden stops. If the shock absorber does not meet the required conditions for proper functioning (lack of volumetric capacity, inadequate orientation the impacts cause repeated trauma on the neurosensorial elements that might be the chronic, recurrent and progressive origin of Méniere's disease. The experimental procedure with a model of internal ear is explained and the implications of this hypothesis for both Méniere's disease and Hakim's normotense hydrocephalus are discussed

  10. Factors affecting neurodevelopmental outcome at 2 years in very preterm infants below 1250 grams: a prospective study.

    Science.gov (United States)

    Agarwal, Pratibha Keshav; Shi, Luming; Rajadurai, Victor Samuel; Zheng, Qishi; Yang, Phey Hong; Khoo, Poh Choo; Quek, Bin Huey; Daniel, Lourdes Mary

    2018-06-01

    To evaluate the neurodevelopmental outcomes of preterm very-low birth weight (PT/VLBW) infants at 2 years and identify risk factors associated with significant developmental delay or neurodevelopmental impairment (NDI). We evaluated 165 PT/VLBW infants born between January 2010 and December 2011, using the Bayley Scales of Infant and Toddler Development 3rd Edition (Bayley-III). NDI was defined as the presence of neurosensory impairment or significant delay with Bayley-III score deaf and none were blind. Regression models identified significant positive associations of delayed cognitive skills with male gender (Odds ratio (OR) 22.4, 95% confidence interval (CI) 1.5-341.1; P = 0.025), lack of anntenatal steroids (ANS) (OR 41.5, 95% CI 3.5-485.7; P = 0.003), and hypotension needing inotropes (OR 36.0, 95% CI 2.6-506.0; P = 0.008); delayed language skills with lower maternal education (OR 3.8, 95% CI 1.4-10.3; P = 0.10), lack of ANS (OR 2.8, 95% CI 1.1-7.4; P = 0.04), and 5 minute Apgar Score ≤ 5 (OR 7.4, 95% CI 1.4-38.4; P = 0.017) and delayed motor skills with chronic lung disease at 36 weeks (OR 38.3, 95% CI 2.4-603.4; P = 0.010). NDI was associated with lack of ANS (OR 2.91, 95% CI 1.21-7.00; P = 0.02) and use of postnatal steroids (OR 3.36, 95% CI 1.07-10.54; P = 0.0374). Risk factors for both NDI and individual domain delay were identified and will be helpful in planning of specific and targeted early intervention services.

  11. Clinical balance tests, proprioceptive system and adolescent idiopathic scoliosis.

    Science.gov (United States)

    Le Berre, Morgane; Guyot, Marc-Alexandre; Agnani, Olivier; Bourdeauducq, Isabelle; Versyp, Marie-Christine; Donze, Cécile; Thévenon, André; Catanzariti, Jean-Francois

    2017-06-01

    Adolescent idiopathic scoliosis (AIS) is a three-dimensional deformity of the spinal column of unknown etiology. Multiple factors could be involved, including neurosensory pathways and, potentially, an elective disorder of dynamic proprioception. The purpose of this study was to determine whether routine balance tests could be used to demonstrate an elective alteration of dynamic proprioception in AIS. This was a multicentre case-control study based on prospectively collected clinical data, in three hospitals pediatric, with spine consultation, from January 2013 through April 2015. From an original population of 547 adolescents, inclusion and non-inclusion criteria indentified 114 adolescents with right thoracic AIS (mean age 14.5 ± 1.9 years, Cobb angle 35.7 ± 15.3°) and 81 matched adolescents without scoliosis (mean age 14.1 ± 1.9 years). Participants performed three routine clinical balance tests to assess the static and dynamic proprioception: the Fukuda-Utenberger stepping test (angle of rotation in degrees and distance of displacement in cm) to assess dynamic balance; the sharpened Romberg test and the unipedal stance test (eyes closed) to assess static balance. There was no significant difference between AIS subjects and controls for the static tests, but there was a significant difference for the dynamic test for both measures: distance of displacement (p tests can be performed in routine practice. Their validity as a biomarker for screening and monitoring purposes should be assessed.

  12. How Can Paresthesia After Zygomaticomaxillary Complex Fracture Be Determined After Long-Term Follow-Up? A New and Quantitative Evaluation Method Using Current Perception Threshold Testing.

    Science.gov (United States)

    Okochi, Masayuki; Ueda, Kazuki; Mochizuki, Yasushi; Okochi, Hiromi

    2015-08-01

    The aims of the present study were to analyze the effectiveness of current perception threshold (CPT) testing to determine patients' minor paresthesia of the infraorbital region after open reduction and internal fixation (ORIF) for unilateral zygomaticomaxillary bone fracture (UZF) and to clarify which nerve fiber was related to the paresthesia. We conducted a retrospective cohort study of patients who had undergone ORIF after UZF. We also performed neurosensory testing for healthy volunteers who served as the control group. The predictor variables were the period of measurement of Semmes-Weinstein monofilament (S-W) testing and CPT testing (preoperatively and 1 and 5 years postoperatively), measurement side, and disease status (UZF or control). The outcome variables were paresthesia status of the infraorbital nerve region and the results of S-W and CPT testing in both UZF and control groups. The differences in the S-W and CPT values between the affected and unaffected sides in the UZF group and between the UZF and control groups were analyzed by t test (P paresthesia at 1 and 5 years postoperatively. At 5 years postoperatively, the S-W values in all patients showed normalization. From the results of CPT testing, only the A-β fiber function showed significant improvement at 5 years postoperatively. The CPT test was an effective sensory test for determining minor paresthesia that could not be detected using S-W testing. Paresthesia of the infraorbital nerve region was caused by the damaged A-δ and C fibers. Copyright © 2015 American Association of Oral and Maxillofacial Surgeons. Published by Elsevier Inc. All rights reserved.

  13. Social Health Insurance-Based Simultaneous Screening for 154 Mutations in 19 Deafness Genes Efficiently Identified Causative Mutations in Japanese Hearing Loss Patients.

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    Kentaro Mori

    Full Text Available Sensorineural hearing loss is one of the most common neurosensory disorders in humans. The incidence of SNHL is estimated to be 1 in 500-1000 newborns. In more than half of these patients, the hearing loss is associated with genetic causes. In Japan, genetic testing for the patients with SNHL using the Invader assay to screen for 46 mutations in 13 deafness genes was approved by the Ministry of Health, Labour and Welfare for inclusion in social health insurance coverage in 2012. Furthermore, from August 2015, this genetic testing has been expanded to screen for 154 mutations in 19 deafness genes using targeted genomic enrichment with massively parallel DNA sequencing combined with the Invader assay and TaqMan genotyping. For this study we analyzed 717 unrelated Japanese hearing loss patients. The total allele frequency of 154 mutations in 19 deafness genes was 32.64% (468/1434 and the total numbers of cases associated with at least one mutation was 44.07% (316/717. Among these, we were able to diagnose 212 (30% patients, indicating that the present screening could efficiently identify causative mutations in hearing loss patients. It is noteworthy that 27 patients (3.8% had coexistent multiple mutations in different genes. Five of these 27 patients (0.7%, 5/717 overall were diagnosed with genetic hearing loss affected by concomitant with responsible mutations in more than two different genes. For patients identified with multiple mutations in different genes, it is necessary to consider that several genes might have an impact on their phenotypes.

  14. Autotransplantation of Third Molars With Platelet-Rich Plasma for Immediate Replacement of Extracted Non-Restorable Teeth: A Case Series.

    Science.gov (United States)

    Gonzalez-Ocasio, Jorge; Stevens, Mark

    2017-09-01

    The aim of this study was to examine the use of platelet-rich plasma (PRP) for autotransplantation of third molars as a successful technique to provide immediate tooth structure for space maintenance and masticatory function when premature loss of a permanent tooth occurs and other dental restorative options are not indicated. This study included 10 healthy patients 10 to 17 years of age with at least 1 immature third molar (one to two thirds of root formation) used to replace extracted non-restorable teeth. Eleven third molars were transplanted and adapted to sockets of the extracted teeth with the adjunct of PRP. Transplanted teeth were stabilized to the adjacent teeth using orthodontic wires and dental composite for 1 month. Patients were followed for 1 year. Function, tooth vitality, root development, and periodontal health were recorded. All 10 patients had functioning asymptomatic transplanted teeth, with physiologic tooth mobility after splint removal at 1 month and after 1 year. All 10 patients had positive tooth vitality (by cold test) at 3, 6, and 12 months; all transplants showed positive root development (average growth, 2.01 mm) confirmed and measured using periapical radiographs. No patients required root canal therapy at any point in the study. Periodontal assessments were performed at the scheduled follow-up appointments with circumferential periodontal probing. Periodontal health was maintained because probing depths were shallower than 4 mm during the 1-year follow-up. Autotransplantation of immature third molars with PRP shows excellent results and should be considered a viable option for premature loss of permanent molars. PRP might have other advantages, such as root promotion and neurosensory development. Published by Elsevier Inc.

  15. Spontaneous Resolution of Optic Disc Pit Maculopathy

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    Koushik Tripathy

    2017-06-01

    Full Text Available I read with interest the article reporting spontaneous resolution of optic disc pit maculopathy in a boy.1 Though the presence of an optic disc pit and associated macular involvement is undoubted in the presented case, the provided optical coherence tomography (OCT does not clearly show typical intraretinal schisis (Figure 1B1 at multiple retinal levels which may communicate with the pit. Instead, it shows a sub-internal limiting membrane (sub-ILM cavity. Such cavities are known to occur following the resolution of sub-ILM bleed due to various cause including Valsalva retinopathy,2 Terson syndrome, and also in some retinitis3 cases.4 In fact, some of these cavities may simulate a neurosensory retinal detachment or central serous chorioretinopathy on cursory clinical examination.5 To confirm that the features of the current patient1 are indeed related to the optic disc pit, it is necessary for the authors to provide an OCT scan which shows a connection of the presented cavity with the optic disc pit. Also, clear OCT scans of the fovea, both at presentation and at final follow-up would help our understanding of the visual recovery of the patient. The interval between the presenting (28 June 2012 OCT and final OCT (30 Nov 2012 is 5 months and not 6 months as described in the manuscript. For an effective comparison, both the presenting and final OCT scans should have been taken using either horizontal or vertical orientation over the macula. Though the spontaneous resolution of optic disc pit maculopathy is possible, visual recovery in usually unlikely and in such cases an alternate diagnosis needs to be excluded.

  16. Retinal Nerve Fiber Layer Protrusion Associated with Tilted Optic Discs.

    Science.gov (United States)

    Chiang, Jaclyn; Yapp, Michael; Ly, Angelica; Hennessy, Michael P; Kalloniatis, Michael; Zangerl, Barbara

    2018-03-01

    This study resulted in the identification of an optic nerve head (ONH) feature associated with tilted optic discs, which might potentially contribute to ONH pathologies. Knowledge of such findings will enhance clinical insights and drive future opportunities to understand disease processes related to tilted optic discs. The aim of this study was to identify novel retinal nerve fiber layer (RNFL) anomalies by evaluating tilted optic discs using optical coherence tomography. An observed retinal nerve fiber protrusion was further investigated for association with other morphological or functional parameters. A retrospective review of 400 randomly selected adult patients with ONH examinations was conducted in a referral-only, diagnostic imaging center. After excluding other ONH pathologies, 215 patients were enrolled and evaluated for optic disc tilt and/or torsion. Gross anatomical ONH features, including size and rim or parapapillary region elevation, were assessed with stereoscopic fundus photography. Optical coherence tomography provided detailed morphological information of individual retinal layers. Statistical analysis was applied to identify significant changes between individual patient cohorts. A dome-shaped hyperreflective RNFL bulge, protruding into the neurosensory retina at the optic disc margins, was identified in 17 eyes with tilted optic discs. Available follow-up data were inconclusive regarding natural changes with this ONH feature. This RNFL herniation was significantly correlated with smaller than average optic disc size (P = .005), congenital disc tilt (P optic discs, which has not previously been assessed as an independent ONH structure. The feature is predominantly related to congenital crowded, small optic discs and variable between patients. This study is an important first step to elucidate diagnostic capabilities of tilted disc morphological changes and understanding associated functional deficits.

  17. High prevalence/low severity language delay in preschool children born very preterm.

    Science.gov (United States)

    Foster-Cohen, Susan H; Friesen, Myron D; Champion, Patricia R; Woodward, Lianne J

    2010-10-01

    To examine the language development at corrected age 4 years of a regionally representative cohort of children born very preterm (VPT). Of particular interest was the identification of biological and socioenvironmental risk and protective factors that influence VPT children's early language development. Data were collected as part of a prospective longitudinal study of 110 VPT (VPT: ≤ 33 weeks gestation) and 113 full-term children (full term: 37-41 weeks gestation) born in Canterbury, New Zealand from 1998 to 2000. At corrected age 4 years, all children were assessed with the preschool version of the Clinical Evaluation of Language Fundamentals. Extensive information was also collected about children's family social background, perinatal health, childrearing environment, education/intervention exposures, and neurodevelopmental progress from birth to age 4. At the age of 4 years, VPT children were characterized by poorer receptive and expressive language development than full-term children. These differences persisted after exclusion of children with neurosensory impairment as well as statistical adjustment for the effects of social risk. Within the VPT group, the key predictors of children's overall language development were family social risk at birth (p =.05), severity of white matter abnormalities on neonatal magnetic resonance imaging (p =.49), observed parent-child synchrony (p =.001), and concurrent child cognitive ability (p =.001). Together, these factors accounted for 45% of the variance in children's total Clinical Evaluation of Language Fundamentals-Preschool scores. By preschool age, children born VPT show early emerging mild to moderate language delays that are likely to affect their school success and longer-term developmental progress. Findings highlight the importance of potentially modifiable factors such as early brain injury and parenting quality in predicting the language outcomes of children born VPT.

  18. Evaluación del prelenguaje tras aplicación de programa de estimulación en niños con factores de riesgo perinatales

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    Leydelys Castillo Valdés

    2014-04-01

    Full Text Available Introducción: en la formación del prelenguaje es fundamental la estimulación sensorial que recibe el niño. Objetivo: implementar un programa de estimulación para la prevención y el tratamiento oportuno de los trastornos del lenguaje en niños con factores de riesgo perinatales, de modo que permita un desarrollo adecuado de los elementos básicos de la comunicación oral partiendo de los resultados de la evaluación en cada sub-etapa del prelenguaje. Material y método: se realizó un estudio observacional, descriptivo, longitudinal, prospectivo en la consulta de Neurodesarrollo del Hospital General Docente "Abel Santamaría Cuadrado" de Pinar del Río, en el período 2010-2011; tomando los datos de la Historia Clínica Logofoniátrica procesados mediante el sistema estadístico InfStat 1.0. El universo estuvo integrado por 183 niños y la muestra por 142 niños que cumplieron los criterios de inclusión. Resultados: en la muestra se presentaron 68 factores de riesgo prenatales, 234 perinatales y 150 neonatales. En la evaluación al finalizar el prelenguaje el 94% de los niños tuvo un desarrollo del lenguaje acorde a su edad, el 4% un desarrollo normal retardado y un 2% se retrasó. Estos presentaron como causa secundaria Curso atípico del desarrollo, Hipoacusia neurosensorial bilateral profunda y Epilepsia. Predominó la buena eficacia al tratamiento. Conclusiones: de este estudio se concluye que con la puesta en práctica del programa de estimulación se logró que los niños alcanzaran un desarrollo del lenguaje en correspondencia a su edad, mejorando su calidad de vida.

  19. Mapping recessive ophthalmic diseases: linkage of the locus for Usher syndrome type II to a DNA marker on chromosome 1q.

    Science.gov (United States)

    Lewis, R A; Otterud, B; Stauffer, D; Lalouel, J M; Leppert, M

    1990-06-01

    Usher syndrome is a heterogeneous group of autosomal recessive disorders that combines variably severe congenital neurosensory hearing impairment with progressive night-blindness and visual loss similar to that in retinitis pigmentosa. Usher syndrome type I is distinguished by profound congenital (preverbal) deafness and retinal disease with onset in the first decade of life. Usher syndrome type II is characterized by partial hearing impairment and retinal dystrophy that occurs in late adolescence or early adulthood. The chromosomal assignment and the regional localization of the genetic mutation(s) causing the Usher syndromes are unknown. We analyzed a panel of polymorphic genomic markers for linkage to the disease gene among six families with Usher syndrome type I and 22 families with Usher syndrome type II. Significant linkage was established between Usher syndrome type II and the DNA marker locus THH33 (D1S81), which maps to chromosome 1q. The most likely location of the disease gene is at a map distance of 9 cM from THH33 (lod score 6.5). The same marker failed to show linkage in families segregating an allele for Usher syndrome type I. These data confirm the provisional assignment of the locus for Usher syndrome type II to the distal end of chromosome 1q and demonstrate that the clinical heterogeneity between Usher types I and II is caused by mutational events at different genetic loci. Regional localization has the potential to improve carrier detection and to provide antenatal diagnosis in families at risk for the disease.

  20. Transfer RNA and human disease.

    Science.gov (United States)

    Abbott, Jamie A; Francklyn, Christopher S; Robey-Bond, Susan M

    2014-01-01

    Pathological mutations in tRNA genes and tRNA processing enzymes are numerous and result in very complicated clinical phenotypes. Mitochondrial tRNA (mt-tRNA) genes are "hotspots" for pathological mutations and over 200 mt-tRNA mutations have been linked to various disease states. Often these mutations prevent tRNA aminoacylation. Disrupting this primary function affects protein synthesis and the expression, folding, and function of oxidative phosphorylation enzymes. Mitochondrial tRNA mutations manifest in a wide panoply of diseases related to cellular energetics, including COX deficiency (cytochrome C oxidase), mitochondrial myopathy, MERRF (Myoclonic Epilepsy with Ragged Red Fibers), and MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes). Diseases caused by mt-tRNA mutations can also affect very specific tissue types, as in the case of neurosensory non-syndromic hearing loss and pigmentary retinopathy, diabetes mellitus, and hypertrophic cardiomyopathy. Importantly, mitochondrial heteroplasmy plays a role in disease severity and age of onset as well. Not surprisingly, mutations in enzymes that modify cytoplasmic and mitochondrial tRNAs are also linked to a diverse range of clinical phenotypes. In addition to compromised aminoacylation of the tRNAs, mutated modifying enzymes can also impact tRNA expression and abundance, tRNA modifications, tRNA folding, and even tRNA maturation (e.g., splicing). Some of these pathological mutations in tRNAs and processing enzymes are likely to affect non-canonical tRNA functions, and contribute to the diseases without significantly impacting on translation. This chapter will review recent literature on the relation of mitochondrial and cytoplasmic tRNA, and enzymes that process tRNAs, to human disease. We explore the mechanisms involved in the clinical presentation of these various diseases with an emphasis on neurological disease.

  1. Cost-effectiveness of pneumococcal conjugate vaccination in Latin America and the Caribbean: a regional analysis Rentabilidad médica de la vacunación antineumocócica en América Latina y el Caribe: un análisis regional

    Directory of Open Access Journals (Sweden)

    Anushua Sinha

    2008-11-01

    información sobre los posibles beneficios sanitarios, costos y rentabilidad (relación costo-efectividad de la vacunación. Se presenta un análisis económico de la vacunación infantil antineumocócica en América Latina y el Caribe a partir de la información de la vacuna y de datos demográficos, epidemiológicos y de costos. MÉTODOS: Se realizó una revisión bibliográfica estructurada previa para llegar a estimados regionales de la incidencia de la enfermedad. Los costos se tomaron de entrevistas a médicos y tarifas públicas. Se construyó un modelo analítico de decisión para comparar la vacunación de los niños de esta región con la vacuna antineumocócica conjugada y la no vacunación, tomando en cuenta solamente el efecto directo de la vacuna en los niños. RESULTADOS: Se proyectó la vacunación antineumocócica con las tasas de cobertura de la vacuna contra la difteria, el tétanos y la tosferina para prevenir 9 500 muertes anuales en menores de 5 años en esta región, o aproximadamente 1 vida salvada por cada 1 100 niños vacunados. Las vidas salvadas y los casos prevenidos de sordera, trastornos psicomotores y convulsiones equivalen a evitar anualmente 321 000 años de vida ajustados por incapacidad (AVAD. A un precio de la vacuna de US$ 5,00 a US$ 53,00 por dosis, el costo por AVAD evitado desde el punto de vista de la sociedad sería de US$ 154,00 a US$ 5 252,00. CONCLUSIONES: La vacuna antineumocócica conjugada fue altamente rentable hasta un precio de US$ 40,00 por dosis. La introducción de esta vacuna en América Latina y el Caribe puede reducir la mortalidad infantil con una alta rentabilidad en un amplio espectro de posibles costos.

  2. Bacterial meningitis Meningitis bacateriana aguda en niños: estudio clínico y bacteriológico en el Hospital Infantil de Medellín

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    Daniel Hoyos

    1988-02-01

    siguieron el Streptococcus pneumoniae (27.4%, las enterobacterias (15.8%, la Neisseriameningitidis (4.2%, el Staphylococcus aureus (3.2% y estreptococos beta hemoifticos (2.1%; uno de éstos fue Streptococcus agalactiae y correspondió al primer caso de MBA descrito en Medellín por tal microorganismo; igualmente, se halló el primer caso colombiano de MBA por Shigella La fiebre, el vómito, la irritabilidad, los signos de irritación meníngea y las convulsiones, fueron las manifestaciones más frecuentes; en general el cuadro clínico fue más severo y mayores las complicaciones mientras menor fuera el paciente; los pacientes con convulsiones persistentes de predominio focal tenían, por lo general, infarto cerebral, derrame subdural, dilatación ventricular o una combinación de los mismos. El origen bacteriano del padecimiento se pudo comprobar en 89 pacientes (93.7% mediante una combinación de exámenes directos, cultivos y contra inmunoelectroforesis. La mortalidad general fue de 19.0%; de otro lado el 26.0% de los pacientes quedó con secuelas tales como convulsiones, déficit motor y sordera. Por primera vez se comprobó en este Hospital resistencia del H. influenza a la ampicilina (3 de las 26 cepas estudiadas. Con base en éste y los demás hallazgos se recomiendan modificaciones al esquema terapéutico Inicial de la MBA y la supresión de la punción lumbar final rutinaria.

  3. La Pediatría 1989 – 1990

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    Alberto Hernández Saenz

    1990-12-01

    Full Text Available

    “Padre Omnipotente y Misericordioso, acompáñame en mis esfuerzos para curar al enfermo. Que nunca nazca de mí la idea de que conozco bastante, dame fuerza, ocasión y celo para aumentar mi conocimiento”.

    -Maimónides-

    Una taxonomía diferente, el Campylobacter pylori, se designará ahora Helicobacter pylori…

    Otro cambio, ya no hay enfermedad sino síndrome de Kawasaki …

    Los japoneses lanzan al mercado otra cefalosporina de tercera generación, de uso oral, cada 24 horas, se llama Cefixime …

    Aumentan los pacientes tratados con Virazole nebulizado, en casos seleccionados de infecciones por VSR, parainfluenza 1,3, pacientes inmunosuprimidos y arenavirus, con resultados alentadores, se cuestiona, sin embargo, su posible efecto teratogénico en enfermeras …

    Los casos de enfermedad de Lyme aumentan en los Estados Unidos, y ya hay 24 países del mundo donde se encuentra esta Borrelia transmitida por una garrapata.

    La creencia de hace unos años de “Salud para todos en el año 2000”, es completamente quimérica. El país debería dedicar entre 7 a 7.6% del producto bruto interno para dar servicio similar al que presta en la actualidad el ISS. Contraloría General de la Nación (mayo 11190.

    Permetrin es una nueva droga contra la pediculosis …

    El Isotretinoin, usado en el acné, debe emplearse juiciosamente con la seguridad de que la paciente no esté embarazada, puesto que produce embriopatía.

    Se comienza a usar en mayO!’ escala Cefotaxime y Ceftriaxone en el tratamiento de meningitis purulentas como drogas de elección, por disminuir la mortalidad global, en comparación con Ampicilina o Cloramfenicol. ..

    Los niños tratados con Ceftriaxone tienen una menor incidencia de sordera (enero, 1990.

    Ceftriaxone de elección en contactos de Meningococo, substituye a la Rifampicina.

    Los investigadores

  4. Acessibilidade aos serviços de saúde por pessoas com deficiência Acceso a los servicios de salud por personas con discapacidad Accessibility to health services by persons with disabilities

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    Shamyr Sulyvan Castro

    2011-02-01

    Full Text Available OBJETIVO: Analisar as dificuldades de acessibilidade aos serviços de saúde vividas por pessoas com deficiência. PROCEDIMENTOS METODOLÓGICOS: Estudo qualitativo realizado com pessoas que relataram ter algum tipo de deficiência (paralisia ou amputação de membros; baixa visão, cegueira unilateral ou total; baixa audição, surdez unilateral ou total. Foram entrevistados 25 indivíduos (14 mulheres na cidade de São Paulo, SP, de junho a agosto de 2007, que responderam perguntas referentes a deslocamento e acessibilidade aos serviços de saúde. A metodologia utilizada para análise foi o discurso do sujeito coletivo e as análises foram conduzidas com recurso do programa Qualiquantisoft. ANÁLISE DOS RESULTADOS: A análise dos discursos sobre o deslocamento ao serviço de saúde mostrou diversidade quanto ao usuário ir ao serviço sozinho ou acompanhado, utilizar carro particular, transporte coletivo, ir a pé ou de ambulância e demandar tempo variado para chegar ao serviço. Com relação às dificuldades oferecidas de acessibilidade pelos serviços de saúde, houve relatos de demora no atendimento, problemas com estacionamento, falta de rampas, elevadores, cadeiras de rodas, sanitários adaptados e de médicos. CONCLUSÕES: As pessoas com algum tipo de deficiência fizeram uso de meios de transporte diversificados, necessitando de companhia em alguns casos. Problemas na acessibilidade dos serviços de saúde foram relatados pelos sujeitos com deficiências, contrariando o princípio da eqüidade, preceito do Sistema Único de Saúde.OBJETIVO: Analizar las dificultades de acceso a los servicios de salud vividas por personas con discapacidad. PROCEDIMIENTOS METODOLÓGICOS: Estudio cualitativo realizado con personas que relataron tener algún tipo de discapacidad (parálisis o amputación de miembros; baja visión, ceguera unilateral o total; baja audición, sordera unilateral o total. Se entrevistaron 25 individuos (14 mujeres en la

  5. Palatal myoclonus: report of two cases Mioclonia palatal: relato de dois casos

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    GIORGIO FABIANI

    2000-09-01

    Full Text Available We describe two cases of palatal myoclonus (PM, one essential and another secondary to a stroke. Case 1: a 64 years old female who developed clicking sounds in both ears after a stroke and three years later on noticed a progressive involuntary movement of the throat associated with rhythmic contractions of the soft palate, muscles of tongue and throat. MRI showed an ischemic area in brainstem. The patient had a partial response to the use of sumatriptan 6 mg subcutaneously. Case 2: a 66 years old female who began with ear clicking at left ear that worsed slowly associated with tinnitus and arrhythmic movements of soft palate and an audible click at left ear. Brain MRI was normal; audiometry showed bilateral neurosensory loss. She was prescribed clonazepan 1 mg daily with complete recovery. Primary and secondary palatal myoclonus share the same clinical features but probably have different pathophysiological underlying mechanisms.Descrevemos dois casos de mioclonia palatal (MP, um essencial e o outro secundário a acidente vascular cerebral (AVC. Caso1: mulher de 64 anos que desenvolveu cliques audíveis em ambos os ouvidos após um AVC e que três anos depois começou a apresentar movimentos involuntários do pálato, músculos do língua e garganta. A ressonância magnética (RNM mostrou áreas de isquemia no tronco cerebral. A paciente apresentou resposta parcial e não duradoura ao uso subcutâneo de 6 mg de sumatriptano. Caso 2: mulher de 66 anos, com cliques audíveis no ouvido esquerdo que pioraram progressiva e lentamente associados com tinitus e movimentos mais ou menos rítmicos do pálato mole. A RNM encefálica era normal. A audiometria mostrou perda neurossensorial bilateral. Foi medicada com 1,0 mg de clonazepan diariamente com completa recuperação. MP primária e secundária compartilham das mesmas características clínicas, mas evidências sugerem que se devam a diferentes mecanismos fisiopatológicos.

  6. Elderly patient's mortality and morbidity following trochanteric fracture. A prospective study of 100 cases.

    Science.gov (United States)

    Mnif, H; Koubaa, M; Zrig, M; Trabelsi, R; Abid, A

    2009-11-01

    trochanteric fractures, delayed weight-bearing should be preferred to avoid mechanical complications. In fractures that are unstable or extend far below the lesser trochanter, trochanteric nailing is indicated since providing enhanced stability, but sometimes at the cost of insufficient reduction. The treatment objective should be the complete resumption of weight-bearing as early as possible with the fewest possible complications. Prevention consists in detecting and treating osteoporosis and countering the causes of falls in elderly subjects (muscular reinforcement and correction of neurosensory deficit). Level III: Prospective diagnostic study. 2009 Published by Elsevier Masson SAS.

  7. Síndrome de Waardenburg: clasificación clínica de una familia Waardenburg's syndrome: clinical classification of a family

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    Fidel Castro Pérez

    2012-06-01

    Full Text Available Introducción: El síndrome de Waardenburg (SW es una entidad infrecuente, hereditaria, que cursa con cierto grado de discapacidad cuando aparece la hipoacusia neurosensorial y su cuadro clínico no está completamente definido. Objetivo: Describir las características clínicas de una familia afectada con el síndrome y las variantes encontradas. Material y Método: Estudio de casos, observacional, transversal y descriptivo. Se confeccionó una base de datos automatizada. Las variables utilizadas fueron los signos clínicos, incluyendo la clasificación de la hipoacusia. Se utilizaron medidas de frecuencia: absolutas y relativas porcentuales, y se empleó la prueba de X² al 95 % de certeza. Resultados: De los signos clásicos el 100 % mostró distopia cantorum, el resto apareció con variabilidad. Se observaron signos no descritos anteriormente, entre los cuales destacó el dorso nasal recto (65,4 %. Se detectó hallux valgus en 4 de los individuos, lo que permitió clasificar a los individuos en 19 del tipo I, y los 7 restantes en la subvariante 1 del tipo III. Conclusiones: Las alteraciones óseas encontradas en individuos con SW permiten clasificarlos como portadores de la subvariante III-1, no descrita previamente.Background: Waardenburg Syndrome (SW is a rare inherited disorder characterized by varying degrees of disability, when sensorineural hearing loss appear and its clinical chart is not definitely complete. Objective: to describe the clinical characteristics of a family suffering from this entity and the variables found. Material and Method: observational, cross-sectional and descriptive case studies. An automated database was created, using the variables of clinical signs, including the classification of hypoacusis. Measures of frequency were employed: absolute and relative percentages as well as X² test with 95% of confidence. Results: out of the classical signs 100% showed dystopia canthorum, the rest appeared with variability

  8. Physiotherapy movement based classification approaches to low back pain: comparison of subgroups through review and developer/expert survey

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    Karayannis Nicholas V

    2012-02-01

    Full Text Available Abstract Background Several classification schemes, each with its own philosophy and categorizing method, subgroup low back pain (LBP patients with the intent to guide treatment. Physiotherapy derived schemes usually have a movement impairment focus, but the extent to which other biological, psychological, and social factors of pain are encompassed requires exploration. Furthermore, within the prevailing 'biological' domain, the overlap of subgrouping strategies within the orthopaedic examination remains unexplored. The aim of this study was "to review and clarify through developer/expert survey, the theoretical basis and content of physical movement classification schemes, determine their relative reliability and similarities/differences, and to consider the extent of incorporation of the bio-psycho-social framework within the schemes". Methods A database search for relevant articles related to LBP and subgrouping or classification was conducted. Five dominant movement-based schemes were identified: Mechanical Diagnosis and Treatment (MDT, Treatment Based Classification (TBC, Pathoanatomic Based Classification (PBC, Movement System Impairment Classification (MSI, and O'Sullivan Classification System (OCS schemes. Data were extracted and a survey sent to the classification scheme developers/experts to clarify operational criteria, reliability, decision-making, and converging/diverging elements between schemes. Survey results were integrated into the review and approval obtained for accuracy. Results Considerable diversity exists between schemes in how movement informs subgrouping and in the consideration of broader neurosensory, cognitive, emotional, and behavioural dimensions of LBP. Despite differences in assessment philosophy, a common element lies in their objective to identify a movement pattern related to a pain reduction strategy. Two dominant movement paradigms emerge: (i loading strategies (MDT, TBC, PBC aimed at eliciting a phenomenon

  9. Familial Alström syndrome: a rare cause of bilateral progressive hearing loss

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    Fayez Bahmad Jr.

    2014-04-01

    Full Text Available Introdução: A Síndrome de Alstrom é uma doença muito rara, causada pela mutação no gene Obesidade infantil; ALMS1, que apresenta uma degeneração progressiva das funções sensoriais, resultando em de-Diabetes mellitus tipo 2; ficiências visuais e auditivas, além de distúrbios metabólicos como obesidade na infância, hipe-Retinite pigmentosa rinsulinemia e diabetes tipo II. Objetivo: Apresentar o perfil audiométrico de dois irmãos da mesma família afetados pela Síndrome de Alström. Método: Estudo prospectivo, analítico descritivo, os pacientes afetados foram submetidos a um questionário previamente testado, audiometria tonal e vocal seriadas, análise de emissões otoacústicas, e de respostas de potencial evocado auditivo de tronco encefálico, além de análise genético-molecular para comprovação diagnóstica. Resultados: Ambos os pacientes apresentaram perda auditiva bilateral com o início na infância e progressão lenta para perda auditiva neurosensorial severa no primeiro caso e, profunda, no segundo. As emissões otoacústicas estavam ausentes, e o potencial evocado auditivo de tronco encefálico estava normal em ambos os pacientes, bilateralmente. Conclusão: A Síndrome de Alström apresenta início precoce de perda auditiva neurossensorial, antes da adolescência, 10 a 20 anos para desenvolver perda auditiva severa a profunda. A lesão auditiva é essencialmente coclear, de acordo com os resultados dos testes de emissões otoacústicas e de potenciais evocados auditivos de tronco encefálico.

  10. Nourodevelopmental follow-up in high-risk infants: review article

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    Farin Soleimani

    2015-02-01

    Full Text Available Growing and developing are influenced by genetic, social and environmental factors and it's most important and initial phase step is formed of the early life of the fetus and infant. According to the world health organization, the incidence of preterm birth and low birth weight are increasing in most countries that most of it related to developing countries. Low birth weight (LBW and preterm birth are one the most important causes of death in the world and therefore are considered as one of the major health problems that can affect growing and developing so that it can threaten public health. Advances in medical technology in recent decades at intensive care unit, increased survival of premature infants and high-risk specialist care is needed, but failed, to reduce the complications of premature birth but it couldn’t reduce complications of preterm birth. There is also an increased recognition of the potential disconnect between perinatal outcomes and long-term outcomes. The administration of oxygen and postnatal steroids are prime examples of interventions that may have immediate positive effects but negative long-term effects. Many premature babies will be encounter with mobility problems, cognitive, neurosensory impairments, cerebral palsy, cognitive and language delays, neuromotor developmental delay, blindness and hearing loss, behavioral and psychosocial disorders, learning difficulties and dysfunction in scholastic performances in the future. These disadvantages appear to persist into adulthood and therefore have broad implications for society. Without a doubt, one of the tragedies of the world is people with physical or mental damage caused by premature birth, many of these disorders are not early diagnosed and the prediction of long term complications of infants discharged from the NICU is difficult. Although nourodevelopmental follow-up of these babies is a necessary part of the neonatal assessment but there is no standard process

  11. PRESENTATION OF CENTRAL SEROUS CHORIORETINOPATHY IN TWO HUSBAND AND WIFE COUPLES.

    Science.gov (United States)

    Kanesa-Thasan, Aditya; Fawzi, Amani A; Gill, Manjot K

    2018-01-01

    Central serous chorioretinopathy (CSC) is a disease in which serous detachment of the neurosensory retina occurs over an area of leakage from the choriocapillaris through the retinal pigment epithelium. Associations have been drawn between high-stress personality types and steroid exposure. This article aims to describe a unique case series of two husband and wife couples with CSC. All methods were approved by the authors' institution's institutional review board. History, physical examination, and imaging data were obtained from the electronic medical records of the patients in question and from the providers who cared for these patients. Couple 1: A 35-year-old man presented with "dark spots" in his right eye. He reported no recent steroid use. Visual acuity at presentation was 20/30 in the right eye and 20/20 in the left eye. On fundus examination, there was subretinal fluid in the right eye. His wife presented on the same day with a "wavy section" in the right eye for 6 weeks. She also had no recent steroid use. Visual acuity at presentation was 20/20 in both eyes with blunting of the foveal reflex in the right eye. Optical coherence tomography showed a thick choroid with a pigment epithelial detachment in the right eye. Couple 2: A 34-year-old man presented with "blurry vision" in his right eye for one month. He was taking oral and nasal steroids for chronic sinusitis. Visual acuity was 20/30 in the right eye and 20/20 in the left eye. Fluorescein angiography and indocyanine green confirmed the diagnosis of CSC. After 3 months of persistent subretinal fluid, he received photodynamic therapy in the right eye. Three days after his photodynamic therapy, his 38-year-old wife presented with subjective blurring in both eyes. Visual acuity was 20/20 in both eyes, but optical coherence tomography showed thick choroid in both eyes, a large central pigment epithelial detachment in the right eye, and 3 small pigment epithelial detachments in the left eye. She had no

  12. Ciguatoxins Evoke Potent CGRP Release by Activation of Voltage-Gated Sodium Channel Subtypes NaV1.9, NaV1.7 and NaV1.1

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    Filip Touska

    2017-08-01

    Full Text Available Ciguatoxins (CTXs are marine toxins that cause ciguatera fish poisoning, a debilitating disease dominated by sensory and neurological disturbances that include cold allodynia and various painful symptoms as well as long-lasting pruritus. Although CTXs are known as the most potent mammalian sodium channel activator toxins, the etiology of many of its neurosensory symptoms remains unresolved. We recently described that local application of 1 nM Pacific Ciguatoxin-1 (P-CTX-1 into the skin of human subjects induces a long-lasting, painful axon reflex flare and that CTXs are particularly effective in releasing calcitonin-gene related peptide (CGRP from nerve terminals. In this study, we used mouse and rat skin preparations and enzyme-linked immunosorbent assays (ELISA to study the molecular mechanism by which P-CTX-1 induces CGRP release. We show that P-CTX-1 induces CGRP release more effectively in mouse as compared to rat skin, exhibiting EC50 concentrations in the low nanomolar range. P-CTX-1-induced CGRP release from skin is dependent on extracellular calcium and sodium, but independent from the activation of various thermosensory transient receptor potential (TRP ion channels. In contrast, lidocaine and tetrodotoxin (TTX reduce CGRP release by 53–75%, with the remaining fraction involving L-type and T-type voltage-gated calcium channels (VGCC. Using transgenic mice, we revealed that the TTX-resistant voltage-gated sodium channel (VGSC NaV1.9, but not NaV1.8 or NaV1.7 alone and the combined activation of the TTX-sensitive VGSC subtypes NaV1.7 and NaV1.1 carry the largest part of the P-CTX-1-caused CGRP release of 42% and 34%, respectively. Given the contribution of CGRP to nociceptive and itch sensing pathways, our findings contribute to a better understanding of sensory symptoms of acute and chronic ciguatera that may help in the identification of potential therapeutics.

  13. Perda auditiva hereditária: relato de casos Hereditary hearing loss: case report

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    Aline Mizozoe de Amorim

    2008-03-01

    Full Text Available OBJETIVO: descrever os resultados da avaliação auditiva de uma família com perda auditiva de caráter hereditário autossômico dominante. MÉTODOS: foram avaliados 17 indivíduos, por meio da audiometria tonal, audiometria vocal, timpanometria e pesquisa dos reflexos acústicos, além de acompanhamento genético. RESULTADOS: Dos 17 sujeitos avaliados, 11 apresentaram algum grau de perda auditiva neurossensorial (64,7%, sendo oito do sexo feminino (73% e três do sexo masculino (27%. A idade dos sujeitos avaliados variou de cinco a 68 anos (média=29,6 e a idade do aparecimento da queixa variou de 20 a 38 anos (média=26,1. Ocorreu a progressão da perda auditiva com o aumento da idade, sendo que a partir dos 41 anos, não houve indivíduos com audição normal na família. CONCLUSÃO: a investigação audiológica de todos os membros da família, independentemente da queixa, é imprescindível, pois a perda auditiva pode existir, mesmo que esta ocorra em freqüências isoladas.PURPOSE: to describe the hearing findings of a family with autosome dominant hereditary hearing loss. METHODS: we evaluated 17 subjects. The evaluation was made by pure tone audiometry, Speech audiometry, tympanometry and acoustic reflex testing, in addition to genetic follow-up. RESULTS: from 17 evaluated subjects, 11 showed some degree of neurosensorial hearing loss (64.7%, being 8 female gender (73% and 3 male gender (27%. The subject age varied from 5 to 68 years (average = 39.6 and the time from the complaint's appearance varied from 20 to 38 years. The hearing loss was modified with age. We did not find normal hearing after the age of 41 years in the family. CONCLUSION: the hearing investigation regarding all members of the family regardless of any complaint is extremely indispensable due to the existence of hearing loss even when limited to isolated frequencies.

  14. Regional vulnerability of longitudinal cortical association connectivity: Associated with structural network topology alterations in preterm children with cerebral palsy.

    Science.gov (United States)

    Ceschin, Rafael; Lee, Vince K; Schmithorst, Vince; Panigrahy, Ashok

    2015-01-01

    alteration in eigenvector centrality, clustering coefficient (inter-regional) and participation co-efficient (inter-modular) alterations of frontal-striatal and fronto-limbic nodes suggesting re-organization of these pathways. Both along tract and structural topology network measurements correlated strongly with motor and visual clinical outcome scores. This study shows the value of combining along-tract analysis and structural network topology in depicting not only selective parietal occipital regional vulnerability but also reorganization of frontal-striatal and frontal-limbic pathways in preterm children with cerebral palsy. These finding also support the concept that widespread, but selective posterior-anterior neural network connectivity alterations in preterm children with cerebral palsy likely contribute to the pathogenesis of neurosensory and cognitive impairment in this group.

  15. Regional vulnerability of longitudinal cortical association connectivity

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    Rafael Ceschin

    2015-01-01

    correlated with alteration in eigenvector centrality, clustering coefficient (inter-regional and participation co-efficient (inter-modular alterations of frontal–striatal and fronto-limbic nodes suggesting re-organization of these pathways. Both along tract and structural topology network measurements correlated strongly with motor and visual clinical outcome scores. This study shows the value of combining along-tract analysis and structural network topology in depicting not only selective parietal occipital regional vulnerability but also reorganization of frontal–striatal and frontal–limbic pathways in preterm children with cerebral palsy. These finding also support the concept that widespread, but selective posterior–anterior neural network connectivity alterations in preterm children with cerebral palsy likely contribute to the pathogenesis of neurosensory and cognitive impairment in this group.

  16. Mucosal versus muscle pain sensitivity in provoked vestibulodynia

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    Witzeman K

    2015-08-01

    Full Text Available Kathryn Witzeman,1 Ruby HN Nguyen,2 Alisa Eanes,3 Sawsan As-Sanie,4 Denniz Zolnoun51Department of Obstetrics and Gynecology, Denver Health Medical Center, Denver, CO, 2Division of Epidemiology and Community Health, University of Minnesota, Minneapolis, MN, 3Pelvic Pain Research Unit, Division of Advanced Laparoscopy and Pelvic Pain, Department of Obstetrics and Gynecology, University of North Carolina School of Medicine, Chapel Hill, NC, 4Department of Obstetrics and Gynecology, Division of Minimally Invasive Gynecologic Surgery, University of Michigan, Ann Arbor, MI, 5Department of Obstetrics and Gynecology and Center for Neurosensory Disorders, University of North Carolina, Chapel Hill, NC, USABackground: An estimated 8.3%–16% of women experience vulvovaginal discomfort during their lifetime. Frequently these patients report provoked pain on contact or with attempted intercourse, commonly referred to as provoked vestibulodynia (PVD. Despite the burden of this condition, little is known about its potential etiologies including pelvic floor muscular dysfunction and mucosal components. This knowledge would be beneficial in developing targeted therapies including physical therapy.Objective: To explore the relative contribution of mucosal versus muscle pain sensitivity on pain report from intercourse among women with PVD.Design: In this proof of concept study, 54 women with PVD underwent a structured examination assessing mucosal and pelvic muscle sensitivity.Methods: We examined three mucosal sites in the upper and lower vestibule. Patients were asked to rate their pain on cotton swab palpation of the mucosa using a 10-point visual analog scale. Muscle pain was assessed using transvaginal application of pressure on right and left puborectalis, and the perineal muscle complex. The Gracely pain scale (0–100 was used to assess the severity of pain with intercourse, with women rating the lowest, average, and highest pain levels; a 100 rating the

  17. Dorsal clitoral nerve injury following transobturator midurethral sling

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    Moss CF

    2016-09-01

    Full Text Available Chailee F Moss,1 Lynn A Damitz,2 Richard H Gracely,3 Alice C Mintz,3 Denniz A Zolnoun,2–4 A Lee Dellon5 1Department of Obstetrics and Gynecology, Ohio State University School of Medicine, Columbus, OH, USA; 2Department of Surgery, University of North Carolina at Chapel Hill, NC, USA; 3Department of Endodontics, University of North Carolina at Chapel Hill, NC, USA; 4Department of Obstetrics and Gynecology, University of North Carolina at Chapel Hill School of Medicine, Chapel Hill, NC, USA; 5Department of Plastic and Reconstructive Surgery, Johns Hopkins University School of Medicine, Baltimore, MD, USA Introduction: Transobturator slings can be successfully used to treat stress urinary incontinence and improve quality of life through a minimally invasive vaginal approach. Persistent postoperative pain can occur and pose diagnostic and therapeutic dilemmas. Following a sling procedure, a patient complained of pinching clitoral and perineal pain. Her symptoms of localized clitoral pinching and pain became generalized over the ensuing years, eventually encompassing the entire left vulvovaginal region.Aim: The aim of this study was to highlight the clinical utility of conventional pain management techniques used for the evaluation and management of patients with postoperative pain following pelvic surgery. Methods: We described a prototypical patient with persistent pain in and around the clitoral region complicating the clinical course of an otherwise successful sling procedure. We specifically discussed the utility of bedside sensory assessment techniques and selective nerve blocks in the evaluation and management of this prototypical patient. Results: Neurosensory assessments and a selective nerve block enabled us to trace the source of the patient’s pain to nerve entrapment along the dorsal nerve of the clitoris. We then utilized a nerve stimulator-guided hydrodissection technique to release the scar contracture Conclusion: This case

  18. Ciguatoxins Evoke Potent CGRP Release by Activation of Voltage-Gated Sodium Channel Subtypes NaV1.9, NaV1.7 and NaV1.1

    Science.gov (United States)

    Touska, Filip; Sattler, Simon; Malsch, Philipp; Lewis, Richard J.; Zimmermann, Katharina

    2017-01-01

    Ciguatoxins (CTXs) are marine toxins that cause ciguatera fish poisoning, a debilitating disease dominated by sensory and neurological disturbances that include cold allodynia and various painful symptoms as well as long-lasting pruritus. Although CTXs are known as the most potent mammalian sodium channel activator toxins, the etiology of many of its neurosensory symptoms remains unresolved. We recently described that local application of 1 nM Pacific Ciguatoxin-1 (P-CTX-1) into the skin of human subjects induces a long-lasting, painful axon reflex flare and that CTXs are particularly effective in releasing calcitonin-gene related peptide (CGRP) from nerve terminals. In this study, we used mouse and rat skin preparations and enzyme-linked immunosorbent assays (ELISA) to study the molecular mechanism by which P-CTX-1 induces CGRP release. We show that P-CTX-1 induces CGRP release more effectively in mouse as compared to rat skin, exhibiting EC50 concentrations in the low nanomolar range. P-CTX-1-induced CGRP release from skin is dependent on extracellular calcium and sodium, but independent from the activation of various thermosensory transient receptor potential (TRP) ion channels. In contrast, lidocaine and tetrodotoxin (TTX) reduce CGRP release by 53–75%, with the remaining fraction involving L-type and T-type voltage-gated calcium channels (VGCC). Using transgenic mice, we revealed that the TTX-resistant voltage-gated sodium channel (VGSC) NaV1.9, but not NaV1.8 or NaV1.7 alone and the combined activation of the TTX-sensitive VGSC subtypes NaV1.7 and NaV1.1 carry the largest part of the P-CTX-1-caused CGRP release of 42% and 34%, respectively. Given the contribution of CGRP to nociceptive and itch sensing pathways, our findings contribute to a better understanding of sensory symptoms of acute and chronic ciguatera that may help in the identification of potential therapeutics. PMID:28867800

  19. [The role of nutritional factors on the structure and function of the brain: an update on dietary requirements].

    Science.gov (United States)

    Bourre, J-M

    2004-09-01

    The brain is an organ elaborated and functioning from substances present in the diet. Dietary regulation of blood glucose level (via ingestion of food with a low glycemic index ensuring a low insulin level) improves the quality and duration of intellectual performance, if only because at rest the adult brain consumes 50 p. 100 of dietary carbohydrates, 80 p. 100 of them for energy purposes. The nature of the amino acid composition of dietary proteins contributes to good cerebral function; tryptophan plays a special role. Many indispensable amino acids present in dietary proteins help to elaborate neurotransmitters and neuromodulators. Omega-3 fatty acids provided the first coherent experimental demonstration of the effect of dietary nutrients on the structure and function of the brain. First it was shown that the differentiation and functioning of cultured brain cells requires omega-3 fatty acids. It was then demonstrated that alpha-linolenic acid (ALA) deficiency alters the course of brain development, perturbs the composition and physicochemical properties of brain cell membranes, neurones, oligodendrocytes, and astrocytes (ALA). This leads to physicochemical modifications, induces biochemical and physiological perturbations, and results in neurosensory and behavioral upset. Consequently, the nature of polyunsaturated fatty acids (in particular omega-3) present in formula milks for infants (premature and term) conditions the visual and cerebral abilities, including intellectual abilities. Moreover, dietary omega-3 fatty acids are certainly involved in the prevention of some aspects of cardiovascular disease (including at the level of cerebral vascularization), and in some neuropsychiatric disorders, particularly depression, as well as in dementia, notably Alzheimer's disease. Their deficiency can prevent the satisfactory renewal of membranes and thus accelerate cerebral aging. Iron is necessary to ensure oxygenation, to produce energy in the cerebral parenchyma

  20. Current possibilities of chorioretinites diagnostics

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    O. V. Chudinova

    2014-07-01

    Full Text Available Purpose: to study the morphometric changes in retina and the state of regional hemodynamics for chorioretinites of different etiology, to draw parallels between these methods of study with evaluation of their diagnostical significance.Methods: Clinical and instrumental examination was performed in 15 patients (15 eyes — group 1 — with the verified diagnosis of toxoplasmous chorioretinitis and in 13 patients (13 eyes — group 2 — with the diagnosis of tuberculous chorioretinitis. Control (group 3 consisted of 20 subjects (40 eyes, 9 males, 11 females, without any pathology of organ of vision. Complex ophthalmologic examination was performed in all the patients; the examination included the following procedures: determination of visual acuity with correction, computer perimetry, biomicroscopy of eye fundus, inspection of eye fundus using Goldman lens, optic coherent tomogra- phy (OCt, ultrasound Dopplerography (USDG of eye vessels.Results: the following was determined by OCt data: subclinical serous retinal detachment, isolated cells of cyst-like edema, cyst- like edema in macular zone, unevenness of hyperreflective band of pigment epithelium, thinning of neurosensory retina in the area of scarry focus, hyperreflectivity of the zone of the fibrosis being formed, architectonics disorder of NE layers in foveolar zone and para- foveally at the expense of the presence of small hyperreflective parts. In the presence of proliferative process in the vascular coat the reliable decrease of blood flow maximal and minimal velocities in the posterior short ciliary arteries, maximal and minimal velocities of blood flow in the posterior long ciliary arteries in comparison with the values of patients from control group. the data obtained are supposed that proliferative processes in the vascular coat are accompanied by marked local hemodynamic disorders, which should be taken into consideration when complex therapy is prescribed.Conclusion: Dynamic

  1. Behavioral observation differentiates the effects of an intervention to promote sleep in premature infants: a pilot study.

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    Lacina, Linda; Casper, Tammy; Dixon, Melodie; Harmeyer, Joann; Haberman, Beth; Alberts, Jeffrey R; Simakajornboon, Narong; Visscher, Marty O

    2015-02-01

    Sleep and ongoing cycling of sleep states are required for neurosensory processing, learning, and brain plasticity. Many aspects of neonatal intensive care environments such as handling for routine and invasive procedures, bright lighting, and noise can create stress, disrupt behavior, and interfere with sleep in prematurely born infants. The study empirically investigated whether a 30-minute observation of infant sleep states and behavior could differentiate an intervention to promote sleep in premature infants with feeding difficulties relative to conventional care (standard positioning, standard crib mattress [SP]). We included an intervention to determine the ability of the method to discriminate treatments and generate a benchmark for future improvements. The intervention, a conformational positioner (CP), is contoured around the infant to provide customized containment and boundaries. To more fully verify the 30-minute observational sleep results, standard polysomnography was conducted simultaneously and sleep outcomes for the 2 modalities were compared. In a randomized crossover clinical trial, 25 infants, 31.5 ± 0.6 weeks' gestational age and 38.4 ± 0.6 weeks at the study, with gastrointestinal conditions or general feeding difficulties used each intervention during an overnight neonatal intensive care unit sleep study. Infant sleep states and behaviors were observed during two 30-minute periods--that is, on the positioner and mattress--using the naturalistic observation of newborn behavior. Two certified developmental care nurses assessed sleep state, self-regulatory, and stress behaviors during 2-minute intervals and summed over 30 minutes. Sleep characteristics from standard polysomnography were measured at the time of behavior observations. Infants on CP spent significantly less time in alert, active awake, or crying states by observation compared with SP. Surgical subjects spent more time awake, active awake, or crying and displayed a higher number

  2. Implante coclear en enfermedad de Ménière bilateral. Descripción de un caso

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    Ainhoa MORENO-BRAVO

    2017-03-01

    Full Text Available Introducción: La enfermedad de Ménière se caracteriza por síntomas cocleares y vestibulares. Puede ser unilateral o bilateral. Cuando la pérdida de audición asociada es severa-profunda de forma bilateral o unilateral pero con problemas de audición en el otro oído, dicha audición puede beneficiarse de un implante coclear. Si además, presenta crisis de vértigo y Tumarkin refractarias al tratamiento médico, se puede plantear la realización simultánea de una laberintectomía quirúrgica y colocación de un implante coclear. Descripción: Se describe el caso de un paciente con enfermedad de Ménière bilateral con hipoacusia neurosensorial profunda de oído derecho con fluctuaciones auditivas izquierdas que asocia crisis vertiginosas y de Tumarkin sin respuesta a corticoides orales e intratimpánicos ni a gentamicina intratimpánica. Se le realizó una laberintectomía quirúrgica con implante coclear en el mismo acto quirúrgico anticipándonos al probable deterioro auditivo contralateral. Posteriormente presenta buen rendimiento del implante y desaparición de las crisis del oído intervenido. Discusión: El objetivo del tratamiento es controlar las crisis preservando la función, pero en pacientes en los que las medidas conservadoras fallan, se han de considerar otras más destructivas como es la laberintectomía química, que consigue altas tasas de control de las crisis, y el implante coclear, indicado para restaurar la audición en el oído afectado por enfermedad de Ménière. Si ambas se realizan en un mismo tiempo quirúrgico, se consigue reducir riesgos asociados con otros procedimientos quirúrgicos y anestésicos y evitar las modificaciones histológicas tras una laberintectomía química que dificultarían la posterior colocación del implante colear.

  3. Spectral domain OCT versus time domain OCT in the evaluation of macular features related to wet age-related macular degeneration

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    Isola V

    2012-02-01

    Full Text Available Luisa Pierro1, Elena Zampedri1, Paolo Milani2, Marco Gagliardi1, Vincenzo Isola2, Alfredo Pece21Department of Ophthalmology, University Vita-Salute, Scientific Institute San Raffaele, Milano, Italy, 2Fondazione Retina 3000, Milano, ItalyBackground: The aim of this study was to compare the agreement between spectral domain optical coherence tomography (SD OCT and time domain stratus OCT (TD OCT in evaluating macular morphology alterations in wet age-related macular degeneration (AMD.Methods: This retrospective study was performed on 77 eyes of 77 patients with primary or recurring subfoveal choroidal neovascularization secondary to AMD. All patients underwent OCT examination using Zeiss Stratus OCT 3 (Carl Zeiss Meditec Inc, Dublin, CA and Opko OTI Spectral SLO/OCT (Ophthalmic Technologies Inc, Toronto, Canada. In all radial line scans, the presence of intraretinal edema (IRE, serous pigment epithelium detachment (sPED, neurosensory serous retinal detachment (NSRD, epiretinal membrane (EM, inner limiting membrane thickening (ILMT, and hard exudates (HE were evaluated. The degree of matching was quantified by Kappa measure of agreement.Results: The percentage distribution of TD OCT findings versus SD OCT findings was: IRE 36.3% versus 77.9%, sPED 57.1% versus 85.7%, NSRD 38.9% versus 53.2%, EM 10.5% versus 26.3%, ILMT 3.8% versus 32.4%, and HE 6.4% versus 54.5%. The agreement was as follows: sPED: kappa value 0.15; NSRD: kappa value 0.61; IRE: kappa value 0.18; EM: kappa value 0.41; ILMT: kappa value 0.02; HE: kappa value 0.06.Conclusion: The agreement in the evaluation of macular lesions between the two techniques is poor and depends on the lesion considered. SD OCT allows better detection of the alterations typically related to choroidal neovascularization such as IRE, PED, ILM thickening, and HE. Consequently its use should be strongly considered in patients with wet AMD.Keywords: spectral domain, OCT, time domain, macular degeneration, AMD

  4. [Treatment of macular hematoma complicating AMD by vitrectomy, subretinal r-TPA injection, intravitreal injection of bevacizumab combined with gas tamponade: Report of 4 cases].

    Science.gov (United States)

    Abboud, M; Benzerroug, M; Milazzo, S

    2017-02-01

    The occurrence of a subretinal hematoma in age-related macular degeneration (AMD) is a serious complication that can impact the visual prognosis with a poor functional recovery. The management of this complication remains controversial. Several therapeutic methods have been described. We report the results of four patients treated with a protocol combining: vitrectomy, subretinal injection of r-TPA 0.025mg/0.3ml, intravitreal injection of 0.05ml of bevacizumab and retinal tamponade with 20% SF6 gas. Our series consists of four patients with a submacular hematoma complicating AMD, included in succession between October 2013 and October 2014 and treated with the same treatment protocol and by the same surgeon. All patients underwent surgery within eight days after the onset of the macular hematoma. Patients with a consultation period longer than eight days did not undergo this treatment. Face down postoperative positioning was then carried out for seven days by the patients. We observed a shift in the macular hematoma in the four patients, which allowed the identification of secondary neovascularization responsible for the bleeding. The visual acuity improved in three patients from hand motion (HM) preoperatively to 2/10 at one month postoperatively. One patient maintained visual acuity 1/20 during the entire follow-up despite almost complete resorption of the subretinal hematoma. These visual acuities were stable at 6 months postoperatively. Macular subretinal hematoma can cause severe visual loss by several mechanisms. The blood accumulates between the neurosensory retina and the retinal pigment epithelium, which causes a toxic effect on the surrounding tissues, thus resulting in a loss of photoreceptors and cellular destruction in the pigment epithelium and choriocapillaris, evolving into a fibroglial scar. The therapeutic evaluation of this protocol in our series of four patients gives a favorable result. We observed an improvement in visual acuity in 3/4 of

  5. Meningitis granulomatosa, glomerulonefritis rápidamente progresiva y vasculitis Granulomatous meningitis, crescentic glomerulonephritis and vasculitis

    Directory of Open Access Journals (Sweden)

    Ana Ludueña

    2011-08-01

    into a sustained clinical remission with mild residual neurosensorial hearing loss and renal failure.

  6. Pigment epithelial detachment followed by retinal cystoid degeneration leads to vision loss in treatment of neovascular age-related macular degeneration.

    Science.gov (United States)

    Schmidt-Erfurth, Ursula; Waldstein, Sebastian M; Deak, Gabor-Gyoergy; Kundi, Michael; Simader, Christian

    2015-04-01

    Intravitreal antiangiogenic therapy is the major therapeutic breakthrough in neovascular age-related macular degeneration (AMD). Optical coherence tomography (OCT) is the leading diagnostic tool, but solid criteria for optimal therapeutic outcomes are lacking. A comprehensive analysis of structure/function correlations using Food and Drug Administration- and European Medicines Agency-approved substances and fixed and flexible regimens was performed. Post hoc analysis of a prospective, randomized multicenter clinical trial including 189 study sites. A total of 1240 patients with active neovascular AMD. Participants received intravitreal ranibizumab or aflibercept. A fixed regimen was used for 48 weeks followed by a flexible regimen until week 96. At monthly intervals, best-corrected visual acuity (BCVA) was measured and retinal morphology was assessed by standardized OCT, including intraretinal cysts (IRCs), subretinal fluid (SRF), and pigment epithelial detachment (PED), presenting with a width ≥400 μm or a height of ≥200 μm. Results were correlated for each regimen, feature, and time. The BCVA outcomes in relation to retinal pathomorphology based on noninferiority for all treatment arms. In neovascular AMD, only IRC at baseline and persistent through week 12 had a negative impact on BCVA. With therapeutic intervention, exudative features such as IRC and SRF resolved rapidly in 74% of eyes, whereas PED responded only slowly with 38%. Independent of the type of regimen, fixed or flexible, retinal morphology correlated tightly with visual function. Intraretinal cysts consistently showed the lowest BCVA gains with either regimen or substance. With the switch from a fixed to a flexible pro re nata (PRN) regimen, progressive visual loss occurred exclusively in the group with primary PED presenting as the hallmark of neovascular activity and was induced by secondary formation of IRC in the neurosensory retina. The efficacy of antiangiogenic therapy in neovascular

  7. Executive Functioning and Learning Skills of Adolescent Children Born at Fewer than 26 Weeks of Gestation

    Science.gov (United States)

    Farooqi, A.; Adamsson, M.; Serenius, F.; Hägglöf, B.

    2016-01-01

    Aims To assess the cognitive and behavioral aspects of executive functioning (EF) and learning skills in extremely preterm (EPT) children compared with term control children aged 10 to 15 years. Methods A total of 132 of 134 (98% of all eligible survivors) EPT children born at the 2 Swedish regional tertiary care centers from 1992 to 1998 (mean age = 12 years, mean birth weight = 718 g, and mean gestational age = 24.4 weeks) and 103 matched term controls were assessed. General intelligence was assessed using the Wechsler Intelligence Scale for Children (WISC-III-R), and cognitive aspects of EF were analyzed using EF-sensitive subscales of the WISC-III-R and Tower test of the Delis-Kaplan Executive Function Scale (D-KEFS). Behaviors related to EF and learning skills were assessed using the Five to Fifteen questionnaire, which is a validated parent and teacher instrument. Academic performance in school was assessed by teachers’ responses on Achenbach’s Teachers Report Form. Analyses performed included multivariate analyses of covariance (ANCOVA and MANCOVA) and logistic regression analyses. Results The EPT children displayed significant deficits in cognitive aspects of EF compared with the controls, exhibiting decreases on the order of 0.9 SD to 1.2 SD for tasks of verbal conceptual reasoning, verbal and non-verbal working memory, processing speed and planning ability (P children with major neurosensory impairment (NSI) or a Full Scale intelligence quotient (FSIQ) of children reported significantly more EF-related behavioral problems. MANCOVA of teacher-reported learning skills in children with FSIQ >70 and without major NSI revealed no interactions, but significant main effects were observed for the behavioral composite executive function score, group status (EPT vs control) and FSIQ, for which all effect sizes were medium to large. The corresponding findings of MANCOVA of the parent-reported learning skills were very similar. According to the teachers

  8. Trastornos oculares y otras enfermedades en casos con síndrome de Waardenburg Ocular disorders and other diseases in patients suffering from Waardenburg’s syndrome

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    Fidel Castro Pérez

    2012-12-01

    Full Text Available Introducción: el síndrome de Waardenburg es una entidad infrecuente, hereditaria, que presenta heterocromía del iris, Distopia cantorum y cursa con cierto grado de discapacidad cuando aparece la hipoacusia neurosensorial entre otras alteraciones. Objetivo: determinar las alteraciones oculares y otras enfermedades crónicas de una familia afectada con el síndrome de Waardenburg. Material y método: estudio de casos, observacional, transversal y descriptivo realizado a una familia con síndrome de Waardenburg en el municipio Sandino. Se confeccionó base de datos automatizada. Las variables utilizadas fueron los trastornos de la agudeza visual, refracción visual y otras alteraciones. Se utilizaron medidas de frecuencia: absolutas y relativas porcentuales. Resultados: entre las alteraciones visuales crónicas 17 presentaron trastornos de la refracción, cuatro individuos padecían glaucoma y uno cataratas, no se encontró ningún caso de discapacidad visual. Los 4 individuos con hipertensión arterial, dos coinciden con los que padecen de glaucoma y la otra es diabética. Conclusiones: fueron detectados varios trastornos de la refracción y la agudeza visual, sin llegar a la discapacidad.Introduction: Waardenburg’s syndrome is a rare, hereditary entity which presents heterochromia of the iris, dystopia canthorum and having a certain degree of disability when sensorineural hypoacusis appears; among other alterations. Objective: to determine ocular alterations and other chronic diseases that a family suffering from Waardenburg’s syndrome present. Material and Method: observational, cross-sectional and descriptive case study carried out with a family suffering from Waardenburg’s syndrome in Sandino municipality, Pinar del Rio. A database was created. The variables used were visual acuity, visual refraction and other alterations. Absolute and relative percentages were used as measures of frequency. Results: among these chronic visual

  9. Oral dextrose gel for the treatment of hypoglycaemia in newborn infants.

    Science.gov (United States)

    Weston, Philip J; Harris, Deborah L; Battin, Malcolm; Brown, Julie; Hegarty, Joanne E; Harding, Jane E

    2016-05-04

    Neonatal hypoglycaemia, a common condition, can be associated with brain injury. It is frequently managed by providing infants with an alternative source of glucose, given enterally with formula or intravenously with dextrose solution. This often requires that mother and baby are cared for in separate environments and may inhibit breast feeding. Dextrose gel is simple and inexpensive and can be administered directly to the buccal mucosa for rapid correction of hypoglycaemia, in association with continued breast feeding and maternal care. To assess the effectiveness of dextrose gel in correcting hypoglycaemia and in reducing long-term neurodevelopmental impairment. We searched MEDLINE, EMBASE, the Cochrane Central Register of Controlled Trials (CENTRAL), the Cumulative Index to Nursing and Allied Health Literature (CINAHL) and Web of Science from inception of the database to February 2016. We also searched international clinical trials networks and handsearched proceedings of specific scientific meetings. Randomised and quasi-randomised studies comparing dextrose gel versus placebo, no treatment or other therapies for treatment of neonatal hypoglycaemia. Two review authors independently assessed trial quality and extracted data and did not assess publications for which they themselves were study authors. We included two trials involving 312 infants. No data were available for correction of hypoglycaemia for each hypoglycaemic event. We found no evidence of a difference between dextrose gel and placebo gel for major neurosensory disability at two-year follow-up (risk ratio (RR) 6.27, 95% confidence interval (CI) 0.77 to 51.03; one trial, n = 184; quality of evidence very low). Dextrose gel compared with placebo gel or no gel did not alter the need for intravenous treatment for hypoglycaemia (typical RR 0.78, 95% CI 0.46 to 1.32; two trials, 312 infants; quality of evidence very low). Infants treated with dextrose gel were less likely to be separated from their

  10. Magnesium sulphate and other anticonvulsants for women with pre-eclampsia.

    Science.gov (United States)

    Duley, Lelia; Gülmezoglu, A Metin; Henderson-Smart, David J; Chou, Doris

    2010-11-10

    there was no clear difference in death (RR 1.02, 95% CI 0.57 to 1.84) or neurosensory disability (RR 0.77, 95% CI 0.38 to 1.58) at age 18 months.Magnesium sulphate reduced eclampsia compared to phenytoin (three trials, 2291 women; RR 0.08, 95% CI 0.01 to 0.60) and nimodipine (one trial, 1650 women; RR 0.33, 95% CI 0.14 to 0.77). Magnesium sulphate more than halves the risk of eclampsia, and probably reduces maternal death. There is no clear effect on outcome after discharge from hospital. A quarter of women report side effects with magnesium sulphate.

  11. Autofluorescencia de fondo en pacientes con coriorretinopatía serosa central Fundus autofluorescence in patients with central serous chorioretinopathy

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    Eva R Santana Alas

    2010-01-01

    Full Text Available OBJETIVO: Describir las características de la autofluorescencia de fondo en pacientes con coriorretinopatía serosa central y determinar su relación con las alteraciones funcionales y anatómicas de la región macular. MÉTODOS: Estudio descriptivo, transversal en 21 ojos (21 pacientes con coriorretinopatia serosa central en diferentes estadios evolutivos. Se identificó el patrón de autofluorescencia en el área de desprendimiento neurosensorial, se usó el angiógrafo retinal de Heidelberg a 30°. Con la tomografía de coherencia óptica, se midió el grosor macular central y se describieron los cambios anatómicos. A 12 de los pacientes se les realizó angiografía fluoresceínica en el Angiógrafo Retinal de Heidelberg. RESULTADOS: Se encontró hipoautofluorescencia en el 51,90 %, hiperautofluorescencia en el 42,86 %; coexisten ambos en el 4,76 %. No hubo diferencia significativa entre la hiperautofluorescencia y la hipoautofluorescencia en cuanto a agudeza visual mejor corregida (media de 0,43 y 0,49, respectivamente; p= 0,184, ni respecto al grosor macular central (media de 371,3 µm y 388,1 µm, respectivamente; p= 0,867, pero sí entre el tiempo de evolución y el patrón de autofluorescencia, (p= 0, 023. En ojos con hiperautofluorescencia se observó por tomografía de coherencia óptica irregularidad en capas externas y en epitelio pigmentario de la retina. El 83,3 % de los casos que requirieron angiografía fluoresceínica presentaron hiperfluorescencia que coincidió con la hipoautofluorescencia del sitio de fuga. CONCLUSIONES: En la coriorretinopatía serosa central se encuentran diferentes patrones de autofluorescencia, los que reflejan cambios en la retina externa y epitelio pigmentario de la retina. La autofluorescencia puede ayudar a identificar el sitio de difusión focal en el epitelio pigmentario de la retina.OBJECTIVES: To describe the peculiarities of the Fundus Autofluorecense in patiens with Central Serous

  12. Aproximación a un modelo de costo eficacia de protectores auditivos en el ambiente laboral

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    Ivonne Valero-Pacheco

    2014-06-01

    Full Text Available Introducción: La escasa información disponible en relación con modelos de evaluación de costo efectividad de la protección auditiva, para la prevención de la hipoacusia neurosensorial inducida por el ruido laboral en Colombia, así como la confiabilidad de la información del nivel de atenuación de ruido que es suministrada por los fabricantes de elementos de protección auditiva, justificaron el desarrollo de esta investigación. Objetivos: Proponer un modelo de evaluación de costo eficacia de protectores auditivos ofertados en el mercado colombiano, frente a las necesidades de atenuación contra el ruido establecidas por la legislación colombiana. Materiales y Métodos: Se elaboró un modelo de costo eficacia de protectores auditivos en Colombia. Para ello se seleccionó del total de la oferta existente en el mercado colombiano un protector tipo copa y otro tipo inserción, a los cuales se les aplicó la metodología ANSI S3.19 para determinar el Nivel de Reducción del Ruido (NRR. En la prueba participaron 21 sujetos. En el modelo se consideraron variables como el costo equivalente anual, el nivel de atenuación real y la relación costo eficacia. Resultados: El nivel de atenuación del ruido suministrado en las fichas técnicas del fabricante difiere del encontrado en la prueba realizada para cada uno de los protectores, en el caso de los de tipo copa su eficacia es del 37% menos de lo esperado y para los de inserción del 59%. El cálculo de la Razón de Costo Efectividad (RCE para los protectores tipo copa muestra un valor de $90.055 por cada unidad de eficacia, mientras que la RCE de los protectores de inserción es de $465.034. Discusión/Conclusiones: Aunque las diferencias en el nivel de eficacia observado pueden estar afectadas por factores humanos, la metodología de la prueba y las características propias del protector auditivo, estos hallazgos son consistentes con la recomendación de National Institute for Occupational

  13. Prevalência de sequelas auditivas pós meningite piogênica em crianças Prevalence of auditory sequelae after pyogenic meningitis in children

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    Luzia Poliana Anjos da Silva

    2009-01-01

    prevalent type of meningitis as cause of hearing impairment. METHODS: Two hundred and eighty nine caregivers of children who were diagnosed with pyogenic meningitis between 28 days and 24 months, and had been admitted at Hospital Couto Maia (HC Maia between January 2002 and December 2003 were contacted. The sample was composed of 55 children that survived with or without evident sequelae, who attended audiological and neurological evaluation. A complete audiological evaluation was carried out, including a subjective and objective battery of evaluation tests, using standardized instruments for investigation of children's hearing. RESULTS: The age range of the subjects when the audiological evaluation was carried out varied from two to five years. Hearing impairment was detected in 29% of the sample, characterizing, mostly, a profound bilateral neurosensory hearing loss. The main neurological sequelae found were: epilepsy, hemiparesy, hydrocephaly, dysphasia, and hyperactivity. CONCLUSION: The results indicate the need for audiological monitoring and neurological follow-up in children with previous history of pyogenic meningitis, especially those infected in early ages, seeking to identify possible hearing impairments and to intervene as soon as possible, through specialized intervention, prothetization, and oral language rehabilitation.

  14. Avaliação auditiva em escolares Hearing evaluation of school children

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    S. A. Araújo

    2002-03-01

    Clinic of the Clinical Hospital of the Faculty of Medicine of the Federal University of Goiás. Results: Hearing tests involving 242 ears demonstrated: 76% (184 ears with hearing within normal limits and 24% (58 ears with hearing alteration. The most frequent hearing alterations were: conductive hearing loss in 12% (26, consisting of 8% (16 left ear and 4% (9 right ear. Neurosensorial hearing loss was apparent in 7% (15 ears, consisting of 2% (5 left ear and 5% (10 right ear. Imitation testing involving 242 ears demonstrated altered tympanic membrane: type B curve 3% (6, and type C curve 3% (6. Conclusion: We concluded that hearing alterations can harm the attention and comprehension of school children and that early diagnosis and treatment to obtain better student results is important.

  15. Estudo da audição em crianças portadoras de deficiência visual Study of hearing in children with visual deficiency

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    Elisandra dos Santos

    2011-06-01

    % children with normal vision, without hearing and/or education complaints. The patients underwent meatoscopy, liminal tonal audiometry, logoaudiometry and immitanciometry; in addition to sound location tests in five directions, verbal and non-verbal sequential memory, speech-in-noise tests, dichotic digit tests, duration standard behavior and random gap detection test (RGDT. RESULTS: concerning the basic auditory evaluation in Group I, four (26.6% students showed results altered - two (13, 3% with conductive hearing loss, one (6, 8% with mixed and one (6, 8% with neurosensorial hearing loss. Conversely, all participants in Group II showed normal results. In the sequence of auditory processing tests, 10 (66.6% students in Group I showed results altered and four (26.6% showed normal results. CONCLUSION: Group I demonstrated unfavorable performance in comparison with Group II, either in the basic auditory evaluation or in the sequence of auditory processing tests.

  16. The effects of radionuclides on animal behavior

    International Nuclear Information System (INIS)

    Gagnaire, B.; Adam-Guillermin, C.; Bouron, A.; Lestaevel, P.

    2011-01-01

    Concomitant with the expansion of the nuclear industry, the concentrations of several pollutants, radioactive or otherwise, including uranium, caesium, cadmium and cobalt, have increased over the last few decades. These elemental pollutants do exist in the environment and are a threat to many organisms. Behavior represents the integration of all the anatomical adaptations and physiological processes that occur within an organism. Compared to other biological endpoints, the effects of pollutants on animal behavior have been the focus of only a few studies. However, behavioral changes appear to be ideal for assessing the effects of pollutants on animal populations, because behavior links physiological functions with ecological processes. The alteration of behavioral responses can have severe implications for survival of individuals and of population of some species. Behavioral disruptions may derive from several underlying mechanisms: disruption of neuro-sensorial activity and of endocrines, or oxidative and metabolic disruptions. In this review, we presented an overview of the current literature in which the effects of radioactive pollutants on behavior in humans, rodents, fish and wildlife species are addressed. When possible, we have also indicated the potential underlying mechanisms of the behavioral alterations and parameters measured. In fried, chronic uranium contamination is associated with behavior alterations and mental disorders in humans, and cognitive deficits in rats. Comparative studies on depleted and enriched uranium effects in rats showed that chemical and radiological activities of this metal induced negative effects on several behavioral parameters and also produced brain oxidative stress. Uranium exposure also modifies feeding behavior of bivalves and reproductive behavior of fish. Studies of the effects of the Chernobyl accident shows that chronic irradiation to 137 Cs induces both nervous system diseases and mental disorders in humans leading

  17. Dominant optic atrophy

    Directory of Open Access Journals (Sweden)

    Lenaers Guy

    2012-07-01

    Full Text Available Abstract Definition of the disease Dominant Optic Atrophy (DOA is a neuro-ophthalmic condition characterized by a bilateral degeneration of the optic nerves, causing insidious visual loss, typically starting during the first decade of life. The disease affects primary the retinal ganglion cells (RGC and their axons forming the optic nerve, which transfer the visual information from the photoreceptors to the lateral geniculus in the brain. Epidemiology The prevalence of the disease varies from 1/10000 in Denmark due to a founder effect, to 1/30000 in the rest of the world. Clinical description DOA patients usually suffer of moderate visual loss, associated with central or paracentral visual field deficits and color vision defects. The severity of the disease is highly variable, the visual acuity ranging from normal to legal blindness. The ophthalmic examination discloses on fundoscopy isolated optic disc pallor or atrophy, related to the RGC death. About 20% of DOA patients harbour extraocular multi-systemic features, including neurosensory hearing loss, or less commonly chronic progressive external ophthalmoplegia, myopathy, peripheral neuropathy, multiple sclerosis-like illness, spastic paraplegia or cataracts. Aetiology Two genes (OPA1, OPA3 encoding inner mitochondrial membrane proteins and three loci (OPA4, OPA5, OPA8 are currently known for DOA. Additional loci and genes (OPA2, OPA6 and OPA7 are responsible for X-linked or recessive optic atrophy. All OPA genes yet identified encode mitochondrial proteins embedded in the inner membrane and ubiquitously expressed, as are the proteins mutated in the Leber Hereditary Optic Neuropathy. OPA1 mutations affect mitochondrial fusion, energy metabolism, control of apoptosis, calcium clearance and maintenance of mitochondrial genome integrity. OPA3 mutations only affect the energy metabolism and the control of apoptosis. Diagnosis Patients are usually diagnosed during their early childhood, because of

  18. Intermittent auscultation (IA) of fetal heart rate in labour for fetal well-being.

    Science.gov (United States)

    Martis, Ruth; Emilia, Ova; Nurdiati, Detty S; Brown, Julie

    2017-02-13

    babies, very low-quality evidence). There were no clear differences for perinatal mortality (RR 0.88, 95% CI 0.34 to 2.25; 633 infants, very low-quality evidence). Neonatal seizures were reduced in the EFM group (RR 0.05, 95% CI 0.00 to 0.89; 633 infants, very low-quality evidence). Other important infant outcomes were not reported: mortality or serious morbidity (composite outcome), cerebral palsy or neurosensory disability. For maternal outcomes, women allocated to intermittent electronic fetal monitoring (EFM) (CTG) had higher rates of caesarean section for fetal distress (RR 2.92, 95% CI 1.78 to 4.80, 633 women, moderate-quality evidence) compared with women allocated to routine Pinard. There was no clear difference between groups in instrumental vaginal births (RR 1.46, 95% CI 0.86 to 2.49, low-quality evidence). Other outcomes were not reported (maternal mortality, instrumental vaginal birth for fetal distress and or acidosis, analgesia in labour, mobility or restriction during labour, and postnatal depression). Doppler ultrasonography with routine Pinard (two trials)There was no clear difference between groups in Apgar scores < seven at five minutes after birth (reported as < six in one of the trials) (average RR 0.76, 95% CI 0.20 to 2.87; two trials, 2598 babies, I 2 = 72%, very low-quality evidence); there was high heterogeneity for this outcome. There was no clear difference between groups for perinatal mortality (RR 0.69, 95% CI 0.09 to 5.40; 2597 infants, two studies, very low-quality evidence), or neonatal seizures (RR 0.05, 95% CI 0.00 to 0.91; 627 infants, one study, very low-quality evidence). Other important infant outcomes were not reported (cord blood acidosis, composite of mortality and serious morbidity, cerebral palsy, neurosensory disability). Only one study reported maternal outcomes. Women allocated to Doppler ultrasonography had higher rates of caesarean section for fetal distress compared with those allocated to routine Pinard (RR 2.71, 95% CI

  19. Continuous subcutaneous insulin infusion versus multiple daily injections of insulin for pregnant women with diabetes.

    Science.gov (United States)

    Farrar, Diane; Tuffnell, Derek J; West, Jane; West, Helen M

    2016-06-07

    Diabetes results in a rise in blood glucose above normal physiological levels; if untreated this may cause damage to many systems including the cardiovascular and renal systems. Pregnancy increases resistance to insulin action; for those women who have pre-gestational diabetes, this results in an increasing insulin requirement. There are several methods of administering insulin. Conventionally, insulin has been administered subcutaneously, formally referred to as intensive conventional treatment, but now more usually referred to as multiple daily injections (MDI). An alternative method of insulin administration is the continuous subcutaneous insulin infusion pump (CSII). To compare CSII with MDI of insulin for pregnant women with pre-existing and gestational diabetes. We searched the Cochrane Pregnancy and Childbirth Group's Trials Register (31 March 2016) and reference lists of retrieved studies. Randomised trials comparing CSII with MDI for pregnant women with diabetes. Three review authors independently assessed studies and two review authors extracted data. Disagreements were resolved through discussion with the third author. We assessed the quality of the evidence using the GRADE approach. We included five single-centre trials (undertaken in Italy) with 153 women and 154 pregnancies in this review.There were no clear differences in the primary outcomes reported between CSII and MDI in the included trials: caesarean section (risk ratio (RR) 1.09, 95% confidence interval (CI) 0.66 to 1.77; three trials, 71 women, evidence graded very low), large-for-gestational age (RR 4.15, 95% CI 0.49 to 34.95; three trials, 73 infants; evidence graded very low), and perinatal mortality (RR 2.33, 95% CI 0.38 to 14.32; four trials, 83 infants, evidence graded very low). Other primary outcomes were not reported in these trials (hypertensive disorders of pregnancy, development of type 2 diabetes, composite outcome of serious neonatal outcomes, and neurosensory disability

  20. Combined diet and exercise interventions for preventing gestational diabetes mellitus.

    Science.gov (United States)

    Shepherd, Emily; Gomersall, Judith C; Tieu, Joanna; Han, Shanshan; Crowther, Caroline A; Middleton, Philippa

    2017-11-13

    -0.29 to 0.40; 794 participants; 2 RCTs; Tau² = 0.04; I² = 59%; low-quality evidence). However, there was evidence of less gestational weight gain in the diet and exercise intervention group compared with the control group (mean difference (MD) -0.89 kg, 95% CI -1.39 to -0.40; 5052 women; 16 RCTs; Tau² = 0.37; I² = 43%;moderate-quality evidence). No data were reported for maternal postnatal depression or type 2 diabetes; childhood/adulthood type 2 diabetes, or neurosensory disability. Moderate-quality evidence suggests reduced risks of GDM and caesarean section with combined diet and exercise interventions during pregnancy as well as reductions in gestational weight gain, compared with standard care. There were no clear differences in hypertensive disorders of pregnancy, perinatal mortality, large-for-gestational age, perineal trauma, neonatal hypoglycaemia, and childhood adiposity (moderate- tovery low-quality evidence).Using GRADE methodology, the evidence was assessed as moderate to very low quality. Downgrading decisions were predominantly due to design limitations (risk of bias), and imprecision (uncertain effect estimates, and at times, small sample sizes and low event rates), however two outcomes (pregnancy-induced hypertension/hypertension and neonatal hypoglycaemia), were also downgraded for unexplained inconsistency (statistical heterogeneity).Due to the variability of the diet and exercise components tested in the included studies, the evidence in this review has limited ability to inform practice. Future studies could describe the interventions used in more detail, if and how these influenced behaviour change and ideally be standardised between studies. Studies could also consider using existing core outcome sets to facilitate more standardised reporting.

  1. Roles of unsaturated fatty acids (especially omega-3 fatty acids) in the brain at various ages and during ageing.

    Science.gov (United States)

    Bourre, J M

    2004-01-01

    Among various organs, in the brain, the fatty acids most extensively studied are omega-3 fatty acids. Alpha-linolenic acid (18:3omega3) deficiency alters the structure and function of membranes and induces minor cerebral dysfunctions, as demonstrated in animal models and subsequently in human infants. Even though the brain is materially an organ like any other, that is to say elaborated from substances present in the diet (sometimes exclusively), for long it was not accepted that food can have an influence on brain structure, and thus on its function. Lipids, and especially omega-3 fatty acids, provided the first coherent experimental demonstration of the effect of diet (nutrients) on the structure and function of the brain. In fact the brain, after adipose tissue, is the organ richest in lipids, whose only role is to participate in membrane structure. First it was shown that the differentiation and functioning of cultured brain cells requires not only alpha-linolenic acid (the major component of the omega-3, omega3 family), but also the very long omega-3 and omega-6 carbon chains (1). It was then demonstrated that alpha-linolenic acid deficiency alters the course of brain development, perturbs the composition and physicochemical properties of brain cell membranes, neurones, oligodendrocytes, and astrocytes (2). This leads to physicochemical modifications, induces biochemical and physiological perturbations, and results in neurosensory and behavioural upset (3). Consequently, the nature of polyunsaturated fatty acids (in particular omega-3) present in formula milks for infants (premature and term) conditions the visual and cerebral abilities, including intellectual. Moreover, dietary omega-3 fatty acids are certainly involved in the prevention of some aspects of cardiovascular disease (including at the level of cerebral vascularization), and in some neuropsychiatric disorders, particularly depression, as well as in dementia, notably Alzheimer's disease. Recent

  2. Acuidade visual e eletrorretinografia de campo total em pacientes com síndrome de Usher Visual acuity and full-field electroretinography in patients with Usher's syndrome

    Directory of Open Access Journals (Sweden)

    Luana Mendieta

    2005-04-01

    Full Text Available A síndrome de Usher (SU é doença autossômica recessiva caracterizada por perda auditiva neuro-sensorial acompanhada de retinose pigmentária (RP. OBJETIVO: Analisar a eletrorretinografia de campo total (ERG e a acuidade visual (AV em pacientes com síndrome de Usher tipos I e II. MÉTODOS: Foram estudadas as respostas da eletrorretinografia de campo total e a acuidade visual de 22 pacientes (idade média = 26,8±16,8 anos. Destes, 17 tinham síndrome de Usher tipo I e 5 tinham síndrome de Usher tipo II. RESULTADOS: A acuidade visual média do grupo síndrome de Usher I foi de 0,9 logMAR (20/160, equivalente de Snellen e do grupo síndrome de Usher II de 0,4 logMAR (20/50, equivalente de Snellen. As respostas dos bastonetes e as máximas respostas mostraram-se não detectáveis nos dois grupos. A amplitude média dos potenciais oscilatórios foi de 14,5 µV±6,1 na síndrome de Usher I e na síndrome de Usher II de 12,6 µV±5,2. As respostas de cones foram não detectáveis em 95% dos pacientes com síndrome de Usher I e em 100% dos pacientes com síndrome de Usher II. A amplitude média do flicker a 30 Hz nos pacientes com síndrome de Usher I foi de 3,1 µV±4,1 e do tempo de culminação de 34,0ms±6,2; nos pacientes com síndrome de Usher II a média de amplitude foi de 1,0 mV±0,6 e do tempo de culminação de 35,8 ms±3,1. CONCLUSÃO: A acuidade visual mostrou-se relativamente preservada nos dois grupos, porém com melhores resultados no grupo de síndrome de Usher II. Os achados eletrorretinográficos mostraram-se grandemente reduzidos em ambos os grupos, com a maioria dos pacientes apresentando respostas não detectáveis de bastonetes e cones.PURPOSE: Usher's syndrome (US is a group of genetically distinct autossomal conditions, characterized by sensorineural hearing loss accompanied by a retinal dystrophy indistinguishable from retinitis pigmentosa (RP. The purpose of this study was to analyze full-field electroretinography (ERG

  3. Dietary supplementation with myo-inositol in women during pregnancy for treating gestational diabetes.

    Science.gov (United States)

    Brown, Julie; Crawford, Tineke J; Alsweiler, Jane; Crowther, Caroline A

    2016-09-07

    : perinatal mortality (stillbirth and neonatal mortality); mortality of morbidity composite (as defined by the trials); neurosensory disability. Infants in the myo-inositol group were less likely to have neonatal hypoglycaemia compared with the placebo group (RR 0.05; 95% CI 0.00 to 0.85; one study, n = 73 infants; low-quality evidence). There is evidence of imprecision for this outcome with low event rates and small sample size. There was no evidence of a difference between treatment and placebo groups for preterm birth or birthweight. Myo-inositol was associated with a later gestational age at birth compared with the placebo group (MD 2.10 weeks; 95% CI 1.27 to 2.93; one trial, n = 73 infants). No data were reported for any of the other neonatal outcomes for this review.No long-term outcomes were reported for the mother, infant as a child, infant as an adult, or health service outcomes. There are insufficient data to evaluate the effect of myo-inositol for the treatment of gestational diabetes, with no data to examine the majority of outcomes in this review. There do not appear to be any benefits for the infant associated with exposure to myo-inositol such as reduced risk of being born large-for-gestational age. Although the risk of neonatal hypoglycaemia is reduced for the myo-inositol group, there is evidence of imprecision. Evidence from two studies suggested that myo-inositol was associated with a reduced change in maternal BMI and fasting blood sugar concentration compared with placebo. There is a lack of reporting of the clinically meaningful outcomes pre-specified for this review.Uncertainty of the effectiveness of myo-inositol as a treatment for GDM for key maternal and infant outcomes remains and further high- quality trials with appropriate sample sizes are required to further investigate the role of myo-inositol as a treatment or co-treatment for women with gestational diabetes. Future trials should report on the core outcomes for GDM identified in the methods

  4. Different types of dietary advice for women with gestational diabetes mellitus.

    Science.gov (United States)

    Han, Shanshan; Middleton, Philippa; Shepherd, Emily; Van Ryswyk, Emer; Crowther, Caroline A

    2017-02-25

    Dietary advice is the main strategy for managing gestational diabetes mellitus (GDM). It remains unclear what type of advice is best. To assess the effects of different types of dietary advice for women with GDM for improving health outcomes for women and babies. We searched Cochrane Pregnancy and Childbirth's Trials Register (8 March 2016), PSANZ's Trials Registry (22 March 2016) and reference lists of retrieved studies. Randomised controlled trials comparing the effects of different types of dietary advice for women with GDM. Two authors independently assessed study eligibility, risk of bias, and extracted data. Evidence quality for two comparisons was assessed using GRADE, for primary outcomes for the mother: hypertensive disorders of pregnancy; caesarean section; type 2 diabetes mellitus; and child: large-for-gestational age; perinatal mortality; neonatal mortality or morbidity composite; neurosensory disability; secondary outcomes for the mother: induction of labour; perineal trauma; postnatal depression; postnatal weight retention or return to pre-pregnancy weight; and child: hypoglycaemia; childhood/adulthood adiposity; childhood/adulthood type 2 diabetes mellitus. In this update, we included 19 trials randomising 1398 women with GDM, at an overall unclear to moderate risk of bias (10 comparisons). For outcomes assessed using GRADE, downgrading was based on study limitations, imprecision and inconsistency. Where no findings are reported below for primary outcomes or pre-specified GRADE outcomes, no data were provided by included trials. Primary outcomes Low-moderate glycaemic index (GI) versus moderate-high GI diet (four trials): no clear differences observed for: large-for-gestational age (risk ratio (RR) 0.71, 95% confidence interval (CI) 0.22 to 2.34; two trials, 89 infants; low-quality evidence); severe hypertension or pre-eclampsia (RR 1.02, 95% CI 0.07 to 15.86; one trial, 95 women; very low-quality evidence); eclampsia (RR 0.34, 95% CI 0.01 to 8

  5. Different methods and settings for glucose monitoring for gestational diabetes during pregnancy.

    Science.gov (United States)

    Raman, Puvaneswary; Shepherd, Emily; Dowswell, Therese; Middleton, Philippa; Crowther, Caroline A

    2017-10-29

    Incidence of gestational diabetes mellitus (GDM) is increasing worldwide. Blood glucose monitoring plays a crucial part in maintaining glycaemic control in women with GDM and is generally recommended by healthcare professionals. There are several different methods for monitoring blood glucose which can be carried out in different settings (e.g. at home versus in hospital). The objective of this review is to compare the effects of different methods and settings for glucose monitoring for women with GDM on maternal and fetal, neonatal, child and adult outcomes, and use and costs of health care. We searched the Cochrane Pregnancy and Childbirth Group Trials Register (30 September 2016) and reference lists of retrieved studies. Randomised controlled trials (RCTs) or quasi-randomised controlled trials (qRCTs) comparing different methods (such as timings and frequencies) or settings, or both, for blood glucose monitoring for women with GDM. Two authors independently assessed study eligibility, risk of bias, and extracted data. Data were checked for accuracy.We assessed the quality of the evidence for the main comparisons using GRADE, for:- primary outcomes for mothers: that is, hypertensive disorders of pregnancy; caesarean section; type 2 diabetes; and- primary outcomes for children: that is, large-for-gestational age; perinatal mortality; death or serious morbidity composite; childhood/adulthood neurosensory disability;- secondary outcomes for mothers: that is, induction of labour; perineal trauma; postnatal depression; postnatal weight retention or return to pre-pregnancy weight; and- secondary outcomes for children: that is, neonatal hypoglycaemia; childhood/adulthood adiposity; childhood/adulthood type 2 diabetes. We included 11 RCTs (10 RCTs; one qRCT) that randomised 1272 women with GDM in upper-middle or high-income countries; we considered these to be at a moderate to high risk of bias. We assessed the RCTs under five comparisons. For outcomes assessed using

  6. [The Gulf War Syndrome twenty years on].

    Science.gov (United States)

    Auxéméry, Y

    2013-10-01

    After Operation Desert Storm which took place in Iraq from August 1990 to July 1991 involving a coalition of 35 countries and a 700,000 strong contingent of mainly American men, some associations of war veterans, the media and researchers described a new diagnostic entity: the Gulf War Syndrome (GWS). GWS seems to be a new disorder which associates a litany of functional symptoms integrating the musculoskeletal, digestive, tegumentary and neurosensory systems. The symptoms presented do not allow a syndrome already known to be considered and the aetiology of the clinical picture remains unexplained, an increasing cause for concern resulting from the extent of the phenomenon and its media coverage. It quickly appears that there is no consensus amongst the scientific community concerning a nosographic description of GWS: where can all these functional complaints arise from? Different aetiopathogenic hypotheses have been studied by the American administration who is attempting to incriminate exposure to multiple risks such as vaccines and their adjuvants, organophosphorous compounds, pyridostigmine (given to the troops for the preventive treatment of the former), impoverished uranium, and the toxic emanations from oil well fires. But despite extremely in-depth scientific investigations, 10 years after the end of the war, no objective marker of physical suffering has been retained to account for the disorders presented. It would appear that the former soldiers are in even better objective health than the civil population whereas their subjective level of health remains low. Within this symptomatic population, some authors have begun to notice that the psychological disorders appear and persist associating: asthenia, fatigability, mood decline, sleep disorders, cognitive disorders and post-traumatic stress disorder (PTSD). Within the nosological framework, does GWS cause functional disorders or somatisation? Finally, 20 years after the end of the fighting, only PTSD has