Keratitis‐ichthyosis‐deafness syndrome is a rare genetic disease presenting with cutaneous, ocular, and otic defects. This comprehensive review provides insight into the clinical presentations, ...highlighting the cutaneous manifestations including histopathology and treatment options.
Educational Programs for Deaf Students
American annals of the deaf (Washington, D.C. 1886),
2016, 2016-00-00, 20160101, Letnik:
161, Številka:
2
Journal Article
El presente artículo tiene como objetivo realizar un análisis ontológico del proceso de constitución y autodeterminación del sordo, como persona, en el conjunto de relaciones tanto familiares como ...sociales, y explicar cómo se da la configuración y afianzamiento de su competencia comunicativa y lingüística. El análisis ontológico se realiza a partir de la propuesta de una ontología simbólica de Mauricio Beuchot, en la cual se concibe la autodeterminación de la persona a partir del conjunto de relaciones sociales, reconociendo con anterioridad su substancialidad. Esta situación es fundamental en el proceso de autodeterminación del sordo, ya que su substancialidad se diluye en la medida en que su autodeterminación es anulada en el conjunto de relaciones sociales en las que se encuentra inmerso; su dificultad comunicativa hace que quienes estén en su entorno inmediato tomen decisiones que lo afectan no solo en el presente sino en el futuro, condicionando su desempeño comunicativo y lingüístico.
La investigación, “Caracterización de la atención ofrecida a niños y niñas sordos en jardines de la Secretaria Distrital de Integración Socialbase para la atención integral en la primera infancia” ...(Velásquez, 2011), tuvo como propósito principal presentar una propuesta de atención integral para los niños y las niñas sordos en la etapa inicial de su vida, partiendo de la descripción y el análisis de la experiencia vivida y la situación sociolingüística de los infantes pertenecientes a cinco jardines infantiles de la Secretaria Distrital de Integración Social. En este marco, los resultados investigativos evidenciaron que se requiere de una serie de condiciones básicas para el ingreso de la población sorda infantil a la educación inicial, y que es de gran importancia enfatizar en las acciones que desarrollan los profesionales del sector salud en los tres primeros años de vida, motivo por el cual se presentan, a través de este artículo, unas orientaciones pertinentes a la atención de las niñas y los niños sordos en esta etapa inicial de su vida,acorde conlas políticas nacionales: Colombia por la Primera infancia, Política pública por los niños y las niñas desde la gestación hasta los seis años (2006); la Ley 1346 de 2009, “por medio de la cual se aprueba la ‘Convención de las Naciones Unidas sobre los Derechos de las Personas con Discapacidad’”,y la Ley estatutaria 1618 de 2013, “por medio de la cual se establecen las disposiciones para garantizar el pleno ejercicio de los derechos de las personas con discapacidad”, principalmente.Elpropósito, entonces, es presentar propuestas y elementos necesarios para que los actores del nivel político, los profesionales del sector educativo y de la salud, y las familias, adopten el compromiso de brindar una educación pertinente y para todos.
Atg7 is an indispensable factor that plays a role in canonical nonselective autophagy. Here we show that genetic ablation of Atg7 in outer hair cells (OHCs) in mice caused stereocilium damage, ...somatic electromotility disturbances, and presynaptic ribbon degeneration over time, which led to the gradual wholesale loss of OHCs and subsequent early-onset profound hearing loss. Impaired autophagy disrupted OHC mitochondrial function and triggered the accumulation of dysfunctional mitochondria that would otherwise be eliminated in a timely manner. Atg7-independent autophagy/mitophagy processes could not compensate for Atg7 deficiency and failed to rescue the terminally differentiated, non-proliferating OHCs. Our results show that OHCs orchestrate intricate nonselective and selective autophagic/mitophagy pathways working in concert to maintain cellular homeostasis. Overall, our results demonstrate that Atg7-dependent autophagy plays a pivotal cytoprotective role in preserving OHCs and maintaining hearing function.
Correction to: Journal of Human Genetics (2011) 56, 534–540; doi:10.1038/jhg.2011.55; published online 2 June 2011 The authors of the above paper noticed an error in publication (AOP and in July ...issue) in the list of authors. The third author Munir A Binder should have read Munir A Bhinder.
The theory of predictive coding assumes that higher-order representations influence lower-order representations by generating predictions about sensory input. In congenital deafness, one identified ...dysfunction is a reduced activation of deep layers in the auditory cortex. Since these layers play a central role for processing top-down influences, congenital deafness might interfere with the integration of top-down and bottom-up information flow. Studies in humans suggest more deficits in higher-order than in primary cortical areas in congenital deafness. That opens up the question how well neurons in higher-order areas can be activated by the input through the deprived auditory pathway after restoration of hearing with cochlear implants. Further it is unclear whether their interconnections to lower order areas are impaired by absence of hearing. Corticocortical anatomical fiber tracts and general auditory responsiveness in both primary and higher-order areas are generally preserved in absence of auditory experience. However, the existing data suggest a dichotomy between preservation of anatomical cortical connectivity in congenital deafness and functional deficits in corticocortical coupling. Further, cross-modal reorganization observed in congenital deafness in specific cortical areas appears to be established by functional synaptic changes and rests on anatomically preserved, genetically-predetermined and molecularly patterned circuitry connecting the sensory systems. Current data indicate a reduced corticocortical functional coupling between cortical auditory areas in congenital deafness, both in bottom-up and top-down information stream. Consequently, congenital deafness is likely to result in a deficit in predictive coding that affects learning ability after late cochlear implantation.
•Integration of top-down and bottom-up information flow are impaired in congenital deafness.•Cortico-cortical functional coupling between auditory areas is reduced in congenital deafness.•Explaining all deficits in congenital deafness requires better understanding of deficits in higher-order areas.
Background: Mumps deafness causes serious problems, and incidence data are needed to identify its disease burden. However, such data are limited, and the reported incidence is highly variable. ...Nationwide studies in Japan with a large age range are lacking.Methods: This was a retrospective observational investigation of the 2005–2017 mumps burden using employment-based health insurance claims data. Data were analyzed for 5,190,326 people aged 0–64 years to estimate the incidence of mumps deafness.Results: Of 68,112 patients with mumps (36,423 males; 31,689 females), 102 (48 males; 54 females) developed mumps deafness—an incidence of 15.0 per 10,000 patients (1 in 668 patients). Fifty-four (52.9%) patients had mumps deafness in childhood (0–15 years), and 48 (47.1%) had mumps deafness in adolescence and adulthood (16–64 years); most cases occurred in childhood, the peak period for mumps onset. The incidence of mumps deafness per 10,000 patients was 73.6 in adolescence and adulthood, 8.4 times higher than the incidence of 8.8 in childhood (P < 0.001). In childhood, the incidence of mumps deafness was 7.2 times higher among 6–15-year-olds (13.8; 95% CI, 10.2–18.2) than among 0–5-year-olds (1.9; 95% CI, 0.6–4.5), and this difference was statistically significant (P < 0.001). No sex difference was observed.Conclusions: The incidence of mumps deafness per 10,000 patients aged 0–64 years was 15.0 (1 in 668 patients). A secondary risk of deafness following mumps virus infection was identified not only for children, but also for adolescents and adults.
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