Results 201 to 210 of about 1,202,845 (261)
Viable Medical Waste Chain Network Design by Considering Risk and Robustness
, 2021 Lotfi R +3 more
europepmc +1 more source
Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties
Annals 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
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
Location‐Specific Hematoma Volume Predicts Early Neurological Deterioration in Supratentorial ICH
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Early neurological deterioration (END) adversely affects outcomes in patients with intracerebral hemorrhage (ICH). This study aimed to determine the location‐specific hematoma volumes for END in supratentorial ICH patients. Methods We retrospectively analyzed supratentorial ICH patients presenting from two prospective cohorts.
Zuoqiao Li +10 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To explore how cerebral hypoxia and Normal‐Appearing White Matter (NAWM) integrity affect MS lesion burden and clinical course. Methods Seventy‐nine MS patients, including 13 clinically isolated syndrome (CIS) patients and 66 relapsing–remitting multiple sclerosis (RRMS) patients, and 44 healthy controls (HCs) were recruited from ...
Xinli Wang +8 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Onasemnogene abeparvovec (OA) is an AAV9‐based gene therapy for spinal muscular atrophy type I (SMA I). Real‐world outcomes show increased response variability compared to clinical trials, and follow‐up data beyond 12–18 months are limited.
Marika Pane +43 more
wiley +1 more source
Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...
Leonela Luce +72 more
wiley +1 more source
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Operations Research, 1998
The goal of this paper is to understand choices of networks and schedules by a profit maximizing airline. By “network” we mean the routing pattern for planes and by “schedule” we mean the frequency of service between cities and the amount of time put into the schedule to assure on-time arrival. This paper analyzes network and schedule choice using an “
Lederer, Phillip J. +1 more
openaire +2 more sources
The goal of this paper is to understand choices of networks and schedules by a profit maximizing airline. By “network” we mean the routing pattern for planes and by “schedule” we mean the frequency of service between cities and the amount of time put into the schedule to assure on-time arrival. This paper analyzes network and schedule choice using an “
Lederer, Phillip J. +1 more
openaire +2 more sources
IFAC Proceedings Volumes, 2008
Abstract The application of the Industrial Ethernet brings up issues of both the reliability and behaviour of the networks under a demanded load, while preserving the permitted time delay in the whole network. We propose an algorithm that designs the network topology, which meets the required fault tolerance and allows reliable communication between ...
Tomas Fencl, Pavel Burget, Jan Bilek
openaire +1 more source
Abstract The application of the Industrial Ethernet brings up issues of both the reliability and behaviour of the networks under a demanded load, while preserving the permitted time delay in the whole network. We propose an algorithm that designs the network topology, which meets the required fault tolerance and allows reliable communication between ...
Tomas Fencl, Pavel Burget, Jan Bilek
openaire +1 more source