Results 141 to 150 of about 30,982 (310)

Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.
Alejandra González‐Duarte, Lucy Norcliffe‐Kaufmann, Maria Luisa Cotrina, Zenith Khan, Kaia Dalamo, Patricio Millar Vernetti, Matthew Lawless, Elisabetta Morini, Monica Salani, Marla Weetall, Jana Narasimhan, Agostino G. Rocha, Susan A. Slaugenhaupt, Horacio Kaufmann   +13 more
wiley   +1 more source

Development and Performance Assessment of a Solar-Assisted Desiccant Dryer for Banana, Camote, and Taro Chips

Chemical Engineering Transactions
The demand for efficient and sustainable food preservation methods has driven interest in solar drying technology. This study focuses on the design, fabrication, and performance evaluation of a laboratory-scale solar dryer integrated with calcium ...
Laurenz R. Aglipay, Lorence D. Tomas, Roselle Y Mamuad, Angelo Earvin S. Choi   +3 more
doaj  

Discovery and Targeted Proteomic Studies Reveal Striatal Markers Validated for Huntington's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Clinical trials for Huntington's disease (HD) enrolling persons before clinical motor diagnosis (CMD) lack validated biomarkers. This study aimed to conduct an unbiased discovery analysis and a targeted examination of proteomic biomarkers scrutinized by clinical validation. Methods Cerebrospinal fluid was obtained from PREDICT‐HD and
Daniel Chelsky, Cara Joyce, H. Jeremy Bockholt, Paul A. Rudnick, William H. Adams, Fiona McAllister, Justin W. Smock, Michael A. Newton, Jane S. Paulsen   +8 more
wiley   +1 more source

Immune‐Driven Expression in Inclusion Body Myositis With T‐Cell Large Granular Lymphocytic Leukemia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives T‐cell large granular lymphocytic leukemia (T‐LGLL), reported in up to 58% of inclusion body myositis (IBM) patients, is a rare leukemia of cytotoxic or less commonly helper T cells. The range of myopathies in T‐LGLL and the impact of coexisting T‐LGLL in IBM are not well understood. Our objectives are to investigate the spectrum of
Pannathat Soontrapa, Iago Pinal‐Fernandez, Pritikanta Paul, Michael P. Skolka, Margherita Milone, Min Shi, Mithun V. Shah, Maria Casal‐Dominguez, Katherine Pak, Andrew L. Mammen, Teerin Liewluck   +10 more
wiley   +1 more source

Diffusion Spectrum Imaging Maps Early Axonal Loss and a Unique Progressive Signal in Neuronal Intranuclear Inclusion Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To delineate specific in vivo white matter pathology in neuronal intranuclear inclusion disease (NIID) using diffusion spectrum imaging (DSI) and define its clinical relevance. Methods DSI was performed on 42 NIID patients and 38 matched controls.
Kaiyan Jiang, Yixiu Pei, Xiaobao Hu, Ying Xiong, Fang Wang, Yanyan Yu, Min Zhu, Dandan Tan, Meihong Zhou, Daojun Hong, Fuqing Zhou   +10 more
wiley   +1 more source

Space Station Freedom environmental control and life support system phase 3 simplified integrated test detailed report [PDF]

A description of the phase 3 simplified integrated test (SIT) conducted at the Marshall Space Flight Center (MSFC) Core Module Integration Facility (CMIF) in 1989 is presented.
Carrasquillo, R. L., Dubiel, M. Y., Ogle, K. Y., Perry, J. L., Roberts, B. C., Whitley, K. M.   +5 more
core   +1 more source

The Role of Calcitonin Gene‐Related Peptide in High‐Altitude Headache: A Prospective Field Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective High‐altitude headache (HAH) is a common neurological condition associated with rapid ascent to high altitude. The pathophysiological mechanisms underlying HAH remain incompletely understood. Calcitonin gene‐related peptide (CGRP), a neuropeptide implicated in migraine pathophysiology, may play a key role in the pathophysiology of ...
Roman Schniepp, Ludwig Karrasch, Helena Breitenstein, Andreas Straube, Katharina Kamm   +4 more
wiley   +1 more source

Preliminary testing of a prototype portable X-ray fluorescence spectrometer [PDF]

A portable X-ray fluorescence spectrometer for use as an analyzer in mineral resource investigative work was built and tested. The prototype battery powered spectrometer, measuring 11 by 12 by 5 inches and weighing only about 15 pounds, was designed ...
Anderson, N. B., Patten, L. L., Stevenson, J. J.   +2 more
core   +3 more sources

Aquaporin‐4 in Narcolepsy Type 1: Investigation of Perivascular Fluid Movement in Sleep Disorders

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Narcolepsy type 1 (NT1) is caused by the loss of hypocretin‐1 leading to excessive daytime sleepiness and cataplexy. Additionally, disrupted nighttime sleep has become an increasingly recognized feature of NT1. As the glymphatic fluid movement has been linked to sleep architecture, we investigated cerebrospinal fluid (CSF) Aquaporin‐4 (AQP4 ...
Jonas Ranke, Petra Steinacker, Steffen Halbgebauer, Patrick Oeckl, Geert Mayer, Markus Otto   +5 more
wiley   +1 more source

Recurrent Hypothermia and Autonomic Dysfunction Secondary to Shapiro Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT A 44‐year‐old man presented with recurrent hypothermia, diaphoresis and hypertension. Extensive investigation for infectious, inflammatory, metabolic and endocrine aetiologies was negative. MR scan of the brain demonstrated no lesions but revealed callosal dysgenesis, consistent with Shapiro syndrome.
Naveen Kumar, Jeremy Johnson, Susanne Watkins, Eoin Mulroy   +3 more
wiley   +1 more source