نتایج جستجو برای: familial dysautonomia

تعداد نتایج: 56514  

2016
Alejandro Ordonez Jens-Christian Svenning

Numerous studies indicate that environmental changes during the late Quaternary have elicited long-term disequilibria between species diversity and environment. Despite its importance for ecosystem functioning, the importance of historical environmental conditions as determinants of FD (functional diversity) remains largely unstudied. We quantified the geographic distributions of plant FD (rich...

2014
Charoula Angeli Nicos Valanides Eirini Polemitou Elena Fraggoulidou

The study examined the interaction between field dependence-independence (FD/I) and learning with modeling software and simulations, and their effect on children’s performance. Participants were randomly assigned into two groups. Group A first learned with a modeling tool and then with simulations. Group B learned first with simulations and then with a modeling tool. A statistically significant...

Journal: :Neurology 2010
Lucy Norcliffe-Kaufmann Felicia Axelrod Horacio Kaufmann

BACKGROUND Familial dysautonomia (FD) is due to a genetic deficiency of the protein IKAP, which affects development of peripheral neurons. Patients with FD display complex abnormalities of the baroreflex of unknown cause. METHODS To test the hypothesis that the autonomic phenotype of FD is due to selective impairment of afferent baroreceptor input, we examined the autonomic and neuroendocrine...

Journal: :The British journal of ophthalmology 1965
C G Keith

THIS rare disease is of particular importance to ophthalmologists because of the congenital failure of tear production and corneal anaesthesia. It was first described as an entity by Riley, Day, Greeley, and Langford (1949). Since then, many further cases have been reported (Braun-Vallon and Bessman, 1960; Levin, 1960; Laxdal, Khera, and Haworth, 1961; Thieffry, Joseph, Martin, Job, and Lorthol...

Journal: :European review for medical and pharmacological sciences 2014
R Ghermandi A Mesfin S Terzi S Colangeli E Zamparini A Gasbarrini

Familial dysautomonia (FD, or Riley-Day syndrome) is a rare but fatal autosomal recessive peripheral neuropathy caused by a point mutation in I-κ-B kinase complex associated protein (IKBCAP) gene. The disease, that affects primarily people of Ashkenazi Jewish origin, prejudices the development of primary sensory neurons determining depletion of autonomic and sensory neurons. Musculoskeletal pro...

Journal: :Investigative ophthalmology 1965
A A SMITH J DANCIS G BREININ

Familial dysautonomia presents a tetrad of symptoms referable to the eye which are quite regularly present and which, in association, are distinctive and virtually diagnostic. These are alacrima, corneal hypesthesia or anesthesia, exodeviation, and pupillary constriction following the local administration of 2.5 per cent methacholine. These manifestations appear to be related to other symptoms ...

Journal: :Philosophical Transactions of the Royal Society B: Biological Sciences 2011

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