OBJECTIVE: To describe a patient with juvenile myoclonic epilepsy (JME) and genotype-positive long QT syndrome type 3 (LQT3).
BACKGROUND: JME is an idiopathic generalized epilepsy where variation in several genes including GABRA1, GABRD, CACNB4, CLCN2, EFHC1 and additional loci have been identified as susceptibility factors. LQT3 is a subtype of congenital long QT syndrome, an arrhythmogenic disorder which may predispose to syncope and sudden cardiac death. Mutations in the SCN5A ge
Central diabetes insipidus (CDI) is the end result of a number of conditions that affect the hypothalamic-neurohypophyseal system. The known causes include germinoma/craniopharyngioma, Langerhans cell histiocytosis (LCH), local inflammatory, autoimmune or vascular diseases, trauma resulting from surgery or an accident, sarcoidosis, metastases and midline cerebral and cranial malformations. In rare cases, the underlying cause can be genetic defects in vasopressin synthesis that are inherited as autosomal d
Introduction. Robert M. Sade, MD. The effects of sleepdeprivation on performance of physicians has been widely studied ever since the death of Libby Zion in 1984, the subsequent campaign by ... Impetus was added to investigations of the effects of sleep
Cognitive difficulties after cancer treatment are among the most feared outcomes voiced by patients who are approaching the start of chemotherapy. This phenomenon, sometimes referred to as "chemo brain" or "chemo fog," is quite common during the acute course of chemotherapy treatment. This may result from direct antieneoplastic drug toxicity, use of premedications and anxiolytics to prevent nausea and vomiting, as well as the expected anxiety, depression, and sleepdeprivation that accompanies a new di
Sleepdeprivation and cold air exposure are both experienced in occupational and military settings but the combined effects of these 2 stressors is unknown. The purpose of this study was to determine the effects of 53 hours of total sleepdeprivation on thermoregulation during the rewarming phase (25C air) after acute cold air exposure (10C air).|Eight young men underwent 2 trials in which they either received 7 hours of sleep at night or were totally sleep deprived. On 3 consecutive mornings, the subjects underwent 2 hours of cold air exposure followed by 2 hours of rewarming. Rectal temperature, mean skin temperature, oxygen consumption, and thermal sensation were measured.|Rewarming from acute cold air exposure caused a decline in rectal temperature (~0.5C) each day but this was not different between subjects who were totally sleep deprived and subjects who received 7 hours of sleep at night. During this same period, mean skin temperature increased (from ~22C to 27C),
Sleepdeprivation is common among resident physicians and clinical fellows. Current evidence about sleep science, performance, shift work, and medical errors consistently demonstrates positive impact from reduction of excessive duty hours, particularly when shift length is shortened. This article provides an overview of this literature, highlighting research on diminished physician cognitive performance due to sleepdeprivation and the increase in the number of medical errors that is seen under these conditions. Accreditation Council on Graduate Medical Education trainee duty hour guidelines are reviewed. Practical approaches to evidence-based scheduling of shift-work are also discussed, with attention to improving patient safety.
Sleepdeprivation may slow reaction time, cloud judgment, and impair the ability to think. Our purpose was to study the cognitive and psychomotor performances of orthopaedic trauma surgeons on the basis of the amount of sleep that they obtained.|We prospectively studied the performances of thirty-two orthopaedic trauma surgeons (residents, fellows, and attending surgeons) over two four-week periods at an urban academic trauma center. Testing sessions used handheld computers to administer validated cognitive and psychomotor function tests. We conducted a multivariate analysis to examine the independent association between test performance and multiple covariates, including the amount of sleep the night before testing.|Our analysis demonstrated that orthopaedic surgeons who had slept four hours or less the night before the test had 1.43 times the odds (95% confidence interval, 1.04 to 1.95; p = 0.03) of committing at least one error on an individual test compared with orthopaedic
Prefrontal cortex (PFC) mediated cognitive and emotional processing deficits in bipolar disorder lead to functional limitations even during periods of mood stability. Alterations of sleep and circadian functioning are well-documented in bipolar disorder, but there is little research directly examining the mechanistic role of sleep and/or circadian rhythms in the observed cognitive and emotional processing deficits. We systematically review the cognitive and emotional processing deficits reliant upon PFC functioning of euthymic patients with bipolar disorder and in healthy individuals deprived of sleep. The evidence from two parallel lines of investigation suggests that sleep and circadian rhythms may be involved in the cognitive and emotional processing deficits seen in bipolar disorder through overlapping neurobiological systems. We discuss current models of bipolar highlighting the PFC-limbic connections and discuss inclusion of sleep-related mechanisms. Sleep and circadian
During the past 30 years, rates of partial sleepdeprivation and obesity have increased in the United States. Evidence linking partial sleepdeprivation, defined as sleeping <6 hours per night, to energy imbalance is relevant to weight gain prevention and weight loss promotion. With a majority of Americans overweight or obese, weight loss is a recommended strategy for reducing comorbid conditions. Our purpose was to review the literature regarding the role of partial sleepdeprivation on energy balance and weight regulation. An inverse relationship between obesity and sleep duration has been demonstrated in cross-sectional and prospective studies. Several intervention studies have tested mechanisms by which partial sleepdeprivation affects energy balance. Reduced sleep may disrupt appetitive hormone regulation, specifically increasing ghrelin and decreasing leptin and, thereby, influence energy intake. Increased wakefulness also may promote food intake episodes and energy imbalance.
Five Steps to Improving Patient Access Judy Capko, May 21, 2013 Patient access is getting increased attention through reform initiatives. Here are five steps you can take to make sure patients get appropriate access to care in your office.