Results 41 to 50 of about 872,057 (294)

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi   +2 more
wiley   +1 more source

Age at onset and clinical course of RBM20-mediated cardiomyopathy

open access: yesScientific Reports
Disease-causative variants in RBM20-encoded RNA-binding motif protein 20 cause a severe arrhythmogenic dilated cardiomyopathy (DCM). We aimed to characterize the clinical course of RBM20-mediated DCM in comparison to other familial and non-familial forms
Ramin Garmany   +7 more
doaj   +1 more source

Information loss in local dissipation environments

open access: yes, 2009
The sensitivity of entanglement to the thermal and squeezed reservoirs' parameters is investigated regarding entanglement decay and what is called sudden-death of entanglement, ESD, for a system of two qubit pairs.
B.-G. Englert   +32 more
core   +1 more source

Spinal Cord Infarction Versus Idiopathic Transverse Myelitis: Clinical, Radiological, and Functional Insights From a Retrospective Cohort Study

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Spinal cord infarction (SCI) is a rare but devastating myelopathy, characterized by a high disability rate and an unfavorable prognosis. It has often been underdiagnosed and misdiagnosed as idiopathic transverse myelitis (ITM). This study aimed to describe the clinical features, radiological biomarkers, treatments, and functional ...
Zeqiang Ji   +13 more
wiley   +1 more source

"Re-evaluation of variants of uncertain significance in patients with hereditary arrhythmogenic disorders"

open access: yesBMC Cardiovascular Disorders
Background Genetic diagnostics support the diagnosis of hereditary arrhythmogenic diseases, but variants of uncertain significance (VUS) complicate matters, emphasising the need for regular reassessment.
Sarah Martin   +4 more
doaj   +1 more source

Entanglement Sudden Death and Sudden Birth in Semiconductor Microcavities

open access: yes, 2011
We explore the dynamics of the entanglement in a semiconductor cavity QED containing a quantum well.
Abdel-Khalek, S.   +2 more
core   +1 more source

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz   +3 more
wiley   +1 more source

Experimental Observation of Environment-induced Sudden Death of Entanglement [PDF]

open access: yes, 2007
We demonstrate the difference between local, single-particle dynamics and global dynamics of entangled quantum systems coupled to independent environments. Using an all-optical experimental setup, we show that, while the environment-induced decay of each
Almeida, M. P.   +6 more
core   +2 more sources

Raman Microscopy at the Organic–Inorganic Interfaces in Human Calcified Aortic Valves Shows the Co‐Existence of Whitlockite Crystals and Carbonated Hydroxyapatite‐Mineralized Collagen Fibrils

open access: yesAdvanced Functional Materials, EarlyView.
This study advances our understanding of aortic valve stenosis by capturing spatially resolved chemical and structural changes at the nanoscale. The findings highlight the potential of combined Raman and electron microscopy for understanding calcification mechanisms across diverse tissue types.
Robin H. M. Van der Meijden   +11 more
wiley   +1 more source

Bioprinting Organs—Science or Fiction?—A Review From Students to Students

open access: yesAdvanced Healthcare Materials, EarlyView.
Bioprinting artificial organs has the potential to revolutionize the medical field. This is a comprehensive review of the bioprinting workflow delving into the latest advancements in bioinks, materials and bioprinting techniques, exploring the critical stages of tissue maturation and functionality.
Nicoletta Murenu   +18 more
wiley   +1 more source

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