Results 71 to 80 of about 253,124 (183)

Patterns of parenteral nutrition use in the inpatient setting: A retrospective cohort study

open access: yesNutrition in Clinical Practice, EarlyView.
Abstract Background Parenteral nutrition (PN) supports patients unable to absorb sufficient nutrients from their gastrointestinal tracts. Yet, information about the patterns and extent of PN's in‐hospital use is lacking. Data on this topic should provide comparison points for nutrition support teams and hospital administrators examining PN use in their
Marc Romain   +7 more
wiley   +1 more source

Phosphatidylserine improves axonal transport by inhibition of HDAC and has potential in treatment of neurodegenerative diseases

open access: yesNeural Regeneration Research, 2017
Familial dysautonomia (FD) is a rare children neurodegenerative disease caused due to a point mutation in the IKBKAP gene that results in decreased IKK complex-associated protein (IKAP) protein production.
Shiran Naftelberg, Gil Ast, Eran Perlson
doaj   +1 more source

Effects of IKAP/hELP1 deficiency on gene expression in differentiating neuroblastoma cells: implications for familial dysautonomia. [PDF]

open access: yesPLoS ONE, 2011
Familial dysautonomia (FD) is a developmental neuropathy of the sensory and autonomous nervous systems. The IKBKAP gene, encoding the IKAP/hELP1 subunit of the RNA polymerase II Elongator complex is mutated in FD patients, leading to a tissue-specific ...
Rachel Cohen-Kupiec   +3 more
doaj   +1 more source

Surprise and the singular plural

open access: yesAmerican Ethnologist, EarlyView.
Abstract Bodymind diversity, disability scholars argue, contributes to community and to ideals of human flourishing. Phenomenologists like Nancy and Arendt, meanwhile, foreground our human pluralism. But what does it mean to inhabit (and invent) a plural “we” across significant bodily difference? And why is the experience of surprise important to it? A
Cheryl Mattingly
wiley   +1 more source

MicroRNA screening identifies a link between NOVA1 expression and a low level of IKAP in familial dysautonomia

open access: yesDisease Models & Mechanisms, 2016
Familial dysautonomia (FD) is a rare neurodegenerative disease caused by a mutation in intron 20 of the IKBKAP gene (c.2204+6T>C), leading to tissue-specific skipping of exon 20 and a decrease in the synthesis of the encoded protein IKAP (also known as ...
Mylène Hervé, El Chérif Ibrahim
doaj   +1 more source

Cardiovascular Health in Women—Across the Lifespan

open access: yesClinical Endocrinology, EarlyView.
ABSTRACT Cardiovascular disease (CVD) remains the leading cause of mortality and morbidity among women worldwide. However, CVD continues to be perceived as a predominantly male issue. CVD in women therefore remains understudied, underrecognized and undertreated.
Jaya Chandrasekhar   +5 more
wiley   +1 more source

Proteasome inhibitors to alleviate aberrant IKBKAP mRNA splicing and low IKAP/hELP1 synthesis in familial dysautonomia

open access: yesNeurobiology of Disease, 2017
FD is a rare neurodegenerative disorder caused by a mutation of the IKBKAP gene, which induces low expression levels of the Elongator subunit IKAP/hELP1 protein.
Mylène Hervé, El Chérif Ibrahim
doaj   +1 more source

Non‐epileptic paroxysmal events in Rett syndrome: A systematic review of case‐based and observational evidence

open access: yesDevelopmental Medicine &Child Neurology, EarlyView.
This systematic review identifies and categorizes the spectrum of non‐epileptic paroxysmal events in Rett syndrome. Respiratory disturbances, behavioural episodes, and motor events were the most commonly reported. Improving clinician awareness and diagnostic clarity is key to avoiding unnecessary treatment and enhancing quality of life for individuals ...
Natasha Bhatti, Daniel E. Lumsden
wiley   +1 more source

Cardiac sympathetic denervation in 6-OHDA-treated nonhuman primates. [PDF]

open access: yesPLoS ONE, 2014
Cardiac sympathetic neurodegeneration and dysautonomia affect patients with sporadic and familial Parkinson's disease (PD) and are currently proposed as prodromal signs of PD. We have recently developed a nonhuman primate model of cardiac dysautonomia by
Valerie Joers   +6 more
doaj   +1 more source

Von Economo Neuron Pathology in Familial Dysautonomia: Quantitative Assessment and Possible Implications.

open access: yesJournal of Neuropathology and Experimental Neurology, 2020
Von Economo neurons (VENs) and fork cells are principally located in the anterior cingulate cortex (ACC) and the frontoinsular cortex (FI). Both of these regions integrate inputs from the autonomic nervous system (ANS) and are involved in decision-making
S. Jacot-Descombes   +8 more
semanticscholar   +1 more source

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