Recurrent super-refractory status epilepticus and stroke like episode in a patient with Behr syndrome secondary to biallelic variants in OPA1 gene.

Behr syndrome is associated with compound heterozygous dysfunction in gene and typically presents with a constellation of visual impairment due to early onset optic atrophy, cerebellar ataxia, peripheral neuropathy, deafness, and gastrointestinal motility problems. Our patient with biallelic variants in gene had delayed motor milestones, cerebellar ataxia, and optic atrophy in infancy. At the age of 7 years, he presented with recurrent episodes of super-refractory status epilepticus and metabolic stroke due to underlying mitochondrial dysfunction associated with gene dysfunction.

Epilepsy Incidence and Developmental Outcomes After Early Discontinuation of Antiseizure Medication in Neonatal Hypoxic-Ischemic Encephalopathy.

Background: Neonatal seizures caused by hypoxic-ischemic encephalopathy (HIE) have significant morbidity and mortality. There is variability in clinical practice regarding treatment duration with antiseizure medication (ASM) after resolution of provoked neonatal seizures. We examined epilepsy incidence and developmental outcomes in post-HIE neonates discharged or not on ASM.

A normalization method that controls for total RNA abundance affects the identification of differentially expressed genes, revealing bias toward morning-expressed responses.

RNA-Sequencing is widely used to investigate changes in gene expression at the transcription level in plants. Most plant RNA-Seq analysis pipelines base the normalization approaches on the assumption that total transcript levels do not vary between samples. However, this assumption has not been demonstrated.

Time of day and genotype sensitivity adjust molecular responses to temperature stress in sorghum.

Sorghum is one of the four major C4 crops that are considered to be tolerant to environmental extremes. Sorghum shows distinct growth responses to temperature stress depending on the sensitivity of the genetic background. About half of the transcripts in sorghum exhibit diurnal rhythmic expressions emphasizing significant coordination with the environment.

The Efficacy of Vision, Aphasia, Neglect Assessment in Predicting Emergent Large Vessel Occlusion in Patients Presenting with a Cerebrovascular Accident to the Emergency Department.

Background: Early identification of patients with an emergent large vessel occlusion (ELVO) ischemic stroke is crucial in the Emergency Department (ED), as they are the ideal candidates for endovascular therapy.With this study, we have attempted to use Vision, Aphasia, Neglect (VAN) screening tool in the ED for rapid identification of ELVO ischemic stroke and compared its performance with the National Institute of Health Stroke Severity (NIHSS) scale.

Materials And Methods: A prospective observational study was conducted in the ED of a tertiary care hospital over 18 months among all suspected stroke patients.