Results 131 to 140 of about 3,112,739 (313)
Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina +11 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
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
Zhongguo shuxue zazhiWhole blood, containing all blood components in physiological proportions, is a preferred resuscitative fluid for patients with severe hemorrhage. The preparation, supply, and clinical use of whole blood are more convenient, safe, and effective, offering
GUO Yongjian, WANG Hongjie
doaj +1 more source
[Review of] Mongane Serote. To Every Birth Its Blood [PDF]
, 1986 Mongane Serote is a poet of considerable merit; this I should have discovered from reading his novel, To Every Birth Its Blood, even had I not heard and seen him read his poetry to an African Literature Association Conference in 1975. The novel, however,
Bruner, David K.
core +1 more source
A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling +16 more
wiley +1 more source
CSF Monoamine Metabolites and Cognitive Trajectory in Early Parkinson's Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Imaging and postmortem studies indicate that abnormalities in monoaminergic neurotransmission contribute to cognitive impairment in Parkinson's disease (PD). However, it remains uncertain if cerebrospinal fluid (CSF) monoamine metabolites can serve as biomarkers of cognitive decline in early PD.
Jing‐Yu Shao +7 more
wiley +1 more source
Post Mortem Paliperidone Blood Concentrations Following Long-Acting Injectable Treatments
DiagnosticsBackground/Objectives: I Paliperidone is an antipsychotic recently added into the market in various formulations. There are few data about safety and on therapeutic, toxic, or lethal blood concentrations.
Pietro Zuccarello +3 more
doaj +1 more source
Resistance to multi organ damage after hemorrhagic shock induced ischemia/reperfusion in arctic ground squirrels [PDF]
, 2012 •Worldwide hemorrhagic shock is the number one cause of death in trauma patients, the majority of those die from multi organ dysfunction syndrome [1, 2].
Bogren, Lori +4 more
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