نتایج جستجو برای: familial dysautonomia
تعداد نتایج: 56514 فیلتر نتایج به سال:
Induced pluripotent stem (iPS) cells have considerable promise as a novel tool for modelling human disease and for drug discovery. While the generation of disease-specific iPS cells has become routine, realizing the potential of iPS cells in disease modelling poses challenges at multiple fronts. Such challenges include selecting a suitable disease target, directing the fate of iPS cells into sy...
Familial Dysautonomia (FD) is an autosomal recessive congenital neuropathy that results from abnormal development and progressive degeneration of the sensory and autonomic nervous system. The mutation observed in almost all FD patients is a point mutation at position 6 of intron 20 of the IKBKAP gene; this gene encodes the IκB kinase complex-associated protein (IKAP). The mutation results in a ...
BACKGROUND Better indicators are needed for identifying children with early signs of developmental psychopathology. AIMS To identify measures of autonomic nervous system reactivity that discriminate children with internalising and externalising behavioural symptoms. METHOD A cross-sectional study of 122 children aged 6--7 years examined sympathetic and parasympathetic reactivity to standard...
Three species of trichogrammatid egg parasitoids (Trichogramma deion Pinto & Oatman, Trichogramma ostriniae Pang & Chen, and Trichogramma pretiosum Riley) (Hymenoptera: Trichogrammatidae) were evaluated under laboratory conditions as potential biological control agents for the Indianmeal moth, Plodia interpunctella (Hübner) (Lepidoptera: Pyralidae), on retail shelves. A single shelving unit was...
This issue of the American}ournal of Occupational Therapy commemorates the work of A_ Jean Ayres, an occupational therapist and neuropsychologist who, as a consummate clinician, developed a theory of sensory integration, created standardized tests and other measures co evaluate sensory integration, and designed a treatment approach to remediate sensory incegrative dysfunction. Therapists throug...
Field independence (FI) has been found to correlate with a wide range of cognitive processes requiring cognitive restructuring. Cognitive restructuring, that is going beyond the information given by the setting, is pivotal in creating stable mental representations of the environment, the so-called "cognitive maps," and it affects visuo-spatial abilities underpinning environmental navigation. He...
Retrograde nerve growth factor signaling abnormalities and the pathogenesis of familial dysautonomia
The role of contingency awareness in classical conditioning experiments using human subjects is currently under debate. This study took a novel approach to manipulating contingency awareness in a differential Pavlovian conditioning paradigm. Complex sine wave gratings were used as visual conditional stimuli (CS). By manipulating the fundamental spatial frequency of the displays, we were able to...
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