Results 131 to 140 of about 2,710,716 (310)
A 73‐Year‐Old Man With Several Years of Difficulty Climbing Stairs and Frequent Tripping
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT A 73‐year‐old man presented with progressive weakness and atrophy predominantly affecting the distal finger flexors and quadriceps muscles. Electrophysiological studies demonstrated mixed myogenic and neurogenic features. Muscle MRI showed inflammatory changes, and muscle biopsy revealed granulomatous myositis with histologic features ...
Mehmet Can Sari +3 more
wiley +1 more source
Ketogenic Diet as an Epigenetic Therapy in SETD1B‐Related Epilepsy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Histone lysine methyltransferases such as SETD1B regulate chromatin structure and gene transcription. Ketone bodies, including butyrate, act as histone deacetylase inhibitors. We report a 4‐year‐old boy with SETD1B‐related absence epilepsy, refractory to conventional medications, who achieved sustained > 90% seizure reduction on the Modified ...
Erica Tsang +10 more
wiley +1 more source
AnimalsIn order to harmonize carcass grading, it was necessary to make sure that all methods used in the EU for assessing lean meat content give the same result when dissecting the same carcass.
Dariusz Lisiak +6 more
doaj +1 more source
Evidence of Iron Accumulation in Cerebral Adrenoleukodystrophy: A Potential Novel Disease Mechanism
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT In this first application of Quantitative Susceptibility Mapping Source Separation to cerebral adrenoleukodystrophy, we uncovered alterations in iron and myelin within lesions and normal appearing white matter. As validation, we demonstrate abnormal iron accumulation in those same compartments within primary brain tissue.
Christina L. Nemeth +8 more
wiley +1 more source
, 2014 A couple weeks ago, I closed the stall door behind me in a Patrick Hall bathroom and was greeted by this sign. I quickly scanned the text, smiled at the picture, and had one of those warm, fuzzy, faith-in-humanity-has-been-restored kinds of ...
Davin, Julie E.
core
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source
OPTIMIZATION OF PRESSING PARAMETERS FOR SOFT BIFIDUS-CONTAINING CHEESES
Harčova Nauka ì TehnologìâThis article presents the methodological foundations for optimizing the pressing parameters of fresh soft acid-rennet bifidus-containing cheeses using the Response Surface Methodology (RSM) and statistical analysis of experimental data in the Statistica ...
N. Tkachenko +4 more
doaj +1 more source
Research of influence of technological processing parameters of protein-fat base for supply of sportsmen on activity of protease inhibitors [PDF]
, 2017 The object of research is the biological value of the protein-fat base for athletes, workers of heavy physical labor, military personnel, depending on the conditions of its preliminary processing.
Belinska, Anna +5 more
core +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background X‐linked adrenoleukodystrophy (X‐ALD) is a neurometabolic disorder caused by pathogenic variants in ABCD1, leading to slowly progressive spinal cord disease in nearly all affected men. Sensitive biomarkers to quantify disease severity and predict progression are needed for clinical care and trial design.
Eda G. Kabak +4 more
wiley +1 more source