Refractory Status Epilepticus Associated With a Pathogenic Variant in TNFRSF13B.

Febrile infection-related epilepsy syndrome (FIRES) is a rare epileptic syndrome characterized by new-onset refractory status epilepticus preceded by a febrile illness. Limited literature exists regarding the relationship between primary immunodeficiencies and immune-mediated epilepsy, and the relationship between new-onset refractory status epilepticus and common variable immunodeficiency (CVID) is not well-understood. We present a case of a 21-year-old female with a history of recurrent sinus infections, asthma, thrombocytopenia, atrioventricular nodal reentrant tachycardia, and neonatal seizures who presented with fever and new-onset status epilepticus. She was ultimately diagnosed with a heterozygous variant in TNFRSF13B c.311G>A (p.Cys104Tyr), which encodes for a tumor necrosis factor receptor implicated in CVID.

Rest-activity patterns associated with delirium in patients with intracerebral hemorrhage.

BACKGROUND: Delirium is an acute cognitive disturbance frequently characterized by abnormal psychomotor activity and sleep-wake cycle disruption. However, the degree to which delirium affects activity patterns in the acute period after stroke is unclear. We aimed to examine these patterns in a cohort of patients with intracerebral hemorrhage (ICH). METHODS: We enrolled 40 patients with intracerebral hemorrhage (ICH) who had daily DSM-5-based delirium assessments. Continuous activity measurements were captured using bilateral wrist actigraphs throughout each patient's admission. Activity data were collected in 1-min intervals, with "rest" defined as periods with zero activity. We compared differences in activity based on delirium status across multiple time intervals using multivariable models adjusted for age, ICH severity, and mechanical ventilation. RESULTS: There were 279 days of actigraphy monitoring, of which 199 (71%) were rated as days with delirium. In multivariable analyses, delirium was associated with 98.4 (95% CI 10.4-186.4) fewer daily minutes of rest, including 5.3% (95% CI -0.1-10.1%) fewer minutes during daytime periods (06:00-21:59) and 10.2% (95% CI 1.9-18.4%) fewer minutes during nocturnal periods (22:00-5:59), with higher levels of activity across multiple individual hourly intervals (18:00-21:00, 23:00-03:00, and 04:00-08:00). These differences were even more pronounced in hyperactive or mixed delirium, although even hypoactive delirium was associated with more activity during multiple time periods. CONCLUSIONS: Post-stroke delirium is associated with less rest and higher overall levels of activity, especially during nocturnal periods.

Impact of Sleep Deprivation in the Neurological Intensive Care Unit: A Narrative Review.

Sleep is fundamental for everyday functioning, yet it is often negatively impacted in critically ill patients by the intensive care setting. With a focus on the neurological intensive care unit (NeuroICU), this narrative review summarizes methods of measuring sleep and addresses common causes of sleep disturbance in the hospital including environmental, pharmacological, and patient-related factors. The effects of sleep deprivation on the cardiovascular, pulmonary, immune, endocrine, and neuropsychological systems are discussed, with a focus on short-term deprivation in critically ill populations. Where evidence is lacking in the literature, long-term sleep deprivation studies and the effects of sleep deprivation in healthy individuals are also referenced. Lastly, strategies for the promotion of sleep in the NeuroICU are presented.

Ethical issues in consenting vulnerable patients for neuroscience research.

Many subjects cannot give fully informed consent to take part in research by virtue of age or mental capacity. However, it is unacceptable to deny these patients involvement in research by virtue of a lack of capacity to consent to such research. Further, this would hinder the advancement of medical science and technologies that might ultimately benefit these patients. Conversely, it is as unacceptable to discriminate against these patients and their condition as it is to exploit them or expose them to undue risk. Neuroscientific research raises a number of specific ethical issues in this patient population, in particular issues of consent, potential benefits of research, management of incidental findings and the assignment of appropriate controls. This paper examines the dilemmas that surround such ethical issues, and demonstrates that various procedures including informed consent, deferred consent and consent by proxy can be used to consent patients in both the standard medical and research arenas. Researchers, clinicians and regulatory authorities must work together to understand the benefits, limitations, risks and obligations of any research study involving these patients in order to advance medical care.