Accelerating text input in augmentative and alternative communication (AAC) is a long-standing area of research with bearings on the quality of life in individuals with profound motor impairments. Recent advances in large language models (LLMs) pose opportunities for re-thinking strategies for enhanced text entry in AAC. In this paper, we present SpeakFaster, consisting of an LLM-powered user interface for text entry in a highly-abbreviated form, saving 57% more motor actions than traditional predictive keyboards in offline simulation.
View Article and Find Full Text PDFIn genetic and refractory epileptic patients, seizure activity exhibits sleep-related modulation/regulation and sleep and seizure are intermingled. In this study, by using one het KI mice as a genetic epilepsy model and optogenetic method , we found that subcortical POA neurons were active within epileptic network from the het KI mice and the POA activity preceded epileptic (poly)spike-wave discharges(SWD/PSDs) in the het KI mice. Meanwhile, as expected, the manipulating of the POA activity relatively altered NREM sleep and wake periods in both wt and the het KI mice.
View Article and Find Full Text PDFPurpose: The presence of metal implants can produce artifacts and distort Hounsfield units (HU) in patient computed tomography (CT) images. The purpose of this work was to characterize a novel metal artifact reduction (MAR) algorithm for reconstruction of CBCT images obtained by the HyperSight imaging system.
Methods: Three tissue-equivalent phantoms were fitted with materials commonly used in medical applications.
Variants in the gene, which encodes the β subunit of the GABA receptor, have been implicated in various epileptic encephalopathies and related neurodevelopmental disorders such as Dravet syndrome and Angelman syndrome. These conditions are often associated with early-onset seizures, developmental regression, and cognitive impairments. The severity and specific features of these encephalopathies can differ based on the nature of the genetic variant and its impact on GABA receptor function.
View Article and Find Full Text PDFPurpose: The goal of this study was to evaluate the image quality provided by a novel cone beam computed tomography (CBCT) platform (HyperSight, Varian Medical Systems), a platform with enhanced reconstruction algorithms as well as rapid acquisition times. Image quality was compared with both status quo CBCT for image guidance, and to fan beam CT (FBCT) acquired on a CT simulator (CTsim).
Methods And Materials: In a clinical study, 30 individuals were recruited for whom either deep inspiration (DIBH) or deep exhalation breath hold (DEBH) was used during imaging and radiation treatment of tumors involving liver, lung, breast, abdomen, chest wall, and pancreatic sites.
Chronic subdural hematoma (CSDH) is a common neurosurgical condition. Surgical evacuation has remained the primary treatment despite many advancements in the endovascular field. Regardless, recurrence requiring reoperation is commonly observed during the postoperative follow-up.
View Article and Find Full Text PDFIntroduction: Cerebral infarction from delayed cerebral ischemia (DCI) is a leading cause of poor neurological outcome after aneurysmal subarachnoid hemorrhage (aSAH). We performed an international clinical practice survey to identify monitoring and management strategies for cerebral vasospasm associated with DCI in aSAH patients requiring intensive care unit admission.
Methods: The survey questionnaire was available on the European Society of Intensive Care Medicine (May 2021-June 2022) and Neurocritical Care Society (April - June 2022) websites following endorsement by these societies.
Febrile seizures (FS) are the most common form of epilepsy in children between six months and five years of age. FS is a self-limited type of fever-related seizure. However, complicated prolonged FS can lead to complex partial epilepsy.
View Article and Find Full Text PDFSleep is the preferential period when epileptic spike-wave discharges appear in human epileptic patients, including genetic epileptic seizures such as Dravet syndrome with multiple mutations including SCN1A mutation and GABA receptor γ2 subunit Gabrg2 mutation in patients, which presents more severe epileptic symptoms in female patients than male patients. However, the seizure onset mechanism during sleep still remains unknown. Our previous work has shown that the sleep-like state-dependent homeostatic synaptic potentiation can trigger epileptic spike-wave discharges in one transgenic heterozygous knock-in mouse model.
View Article and Find Full Text PDFObjective: Infantile spasms is an epileptic encephalopathy of childhood, and its pathophysiology is largely unknown. We generated a heterozygous knock-in mouse with the human infantile spasms-associated de novo mutation GABRB3 (c.A328G, p.
View Article and Find Full Text PDFBackground A subset of good-grade patients with aneurysmal subarachnoid hemorrhage (aSAH) develop delayed cerebral ischemia (DCI) that may cause permanent disabilities after aSAH. However, little is known about the risk factors of DCI among this specific patient group. Methods and Results We obtained a multinational cohort of good-grade (Glasgow Coma Scale 13-15 on admission) patients with aSAH by pooling patient data from 4 clinical trials and 2 prospective cohort studies.
View Article and Find Full Text PDFClass solution template trajectories are used clinically for efficiency, safety, and reproducibility. The aim was to develop class solutions for single cranial metastases radiotherapy/radiosurgery based on intracranial target positioning and compare to patient-specific trajectories in the context of 4π optimization. Template trajectories were constructed based on the open-source Montreal Neurological Institute (MNI) average brain.
View Article and Find Full Text PDFDravet syndrome is a rare, catastrophic epileptic encephalopathy that begins in the first year of life, usually with febrile or afebrile hemiclonic or generalized tonic-clonic seizures followed by status epilepticus. variants in genes that mediate synaptic transmission such as and are often associated with Dravet syndrome. Recently, GABA receptor subunit genes () encoding α1 (), β3 () and γ2 (), but not β2 () or β1 (), subunits are frequently associated with Dravet syndrome or Dravet syndrome-like phenotype.
View Article and Find Full Text PDFBackground: Mutations in the γ-aminobutyric acid type A (GABA) receptor γ2 subunit gene, , have been associated frequently with epilepsy syndromes with varying severities. Recently, a mutation, c.T1027C, p.
View Article and Find Full Text PDFObjective: Neuroinflammation is a major theme in epilepsy, which has been characterized in acquired epilepsy but is poorly understood in genetic epilepsy. γ-Aminobutyric acid type A receptor subunit gene mutations are significant causes of epilepsy, and we have studied the pathophysiology directly resulting from defective receptor channels. Here, we determined the proinflammatory factors in a genetic mouse model, the Gabrg2 knockin (KI).
View Article and Find Full Text PDFEpileptic activity in genetic generalized epilepsy (GGE) patients preferentially appears during sleep and its mechanism remains unknown. Here, we found that sleep-like slow-wave oscillations (0.5 Hz SWOs) potentiated excitatory and inhibitory synaptic currents in layer V cortical pyramidal neurons from wild-type (wt) mouse brain slices.
View Article and Find Full Text PDFThe Lennox-Gastaut syndrome is a devastating early-onset epileptic encephalopathy, associated with severe behavioural abnormalities. Its pathophysiology, however, is largely unknown. A mutation (c.
View Article and Find Full Text PDFNimodipine is a dihydropyridine calcium channel antagonist that blocks the flux of extracellular calcium through L-type, voltage-gated calcium channels. While nimodipine is FDAapproved for the prevention and treatment of neurological deficits in patients with aneurysmal subarachnoid hemorrhage (aSAH), it affects myriad cell types throughout the body, and thus, likely has more complex mechanisms of action than simple inhibition of cerebral vasoconstriction. Newer understanding of the pathophysiology of delayed ischemic injury after a variety of acute neurologic injuries including aSAH, traumatic brain injury (TBI) and ischemic stroke, coupled with advances in the drug delivery method for nimodipine, have reignited interest in refining its potential therapeutic use.
View Article and Find Full Text PDFGABRB3 is highly expressed early in the developing brain, and its encoded β3 subunit is critical for GABAA receptor assembly and trafficking as well as stem cell differentiation in embryonic brain. To date, over 400 mutations or variants have been identified in GABRB3. Mutations in GABRB3 have been increasingly recognized as a major cause for severe paediatric epilepsy syndromes such as Lennox-Gastaut syndrome, Dravet syndrome and infantile spasms with intellectual disability as well as relatively mild epilepsy syndromes such as childhood absence epilepsy.
View Article and Find Full Text PDFObjective: γ-Aminobutyric acid type A (GABA ) receptor subunit gene mutations are significant causes of epilepsy, which are often accompanied by various neuropsychiatric comorbidities, but the underlying mechanisms are unclear. It has been suggested that the comorbidities are caused by seizures, as the comorbidities often present in severe epilepsy syndromes. However, findings from both humans and animal models argue against this conclusion.
View Article and Find Full Text PDFWe performed next generation sequencing on 1696 patients with epilepsy and intellectual disability using a gene panel with 480 epilepsy-related genes including all GABAA receptor subunit genes (GABRs), and we identified six de novo GABR mutations, two novel GABRA5 mutations (c.880G>T, p.V294F and c.
View Article and Find Full Text PDFUnderstanding the genetic variation in GABA receptor subunit genes (GABRs), GABRA1-6, GABRB1-3, GABRG1-3 and GABRD, in individuals affected by epilepsy may improve the diagnosis and treatment of epilepsy syndromes through identification of disease-associated variants. However, the lack of functional analysis and validation of many novel and previously reported familial and de novo mutations have made it challenging to address meaningful gene associations with epilepsy syndromes. GABA receptors belong to the Cys-loop receptor family.
View Article and Find Full Text PDFNeurosurg Clin N Am
October 2018
Antiplatelet and anticoagulant drugs (antithrombotic drugs) can cause or be associated with intracranial hemorrhage. Patients who take antithrombotic drugs are at higher risk for intracranial hemorrhage after trauma and are neurologically worse acutely compared with patients not on antithrombotic drugs. Treatment of patients on antithrombotic drugs who have intracranial hemorrhage includes reversal of anticoagulant drugs in almost all cases.
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