Innovations in clinical neuroscience最新文献

Transient loss of consciousness (TLOC) is a common presentation to emergency departments and may be due to syncope or epileptic seizures. The distinction between both entities can be challenging. This case illustrates the need for a multidisciplinary team approach in TLOC to avoid misdiagnosis leading to improper treatment.

The increase in mental health issues among children and adolescents has been declared a health crisis in the United States, and recent increases in key measures (e.g., self-harm and suicidal behaviors) have been found to disproportionately impact youth from minority backgrounds. Access to mental health treatment for youth is limited, but for minority youth, access to culturally sensitive care is even more limited. This article discusses the ways in which misdiagnosis and underdiagnosis of mental health conditions can occur in minority youth and provides key points for clinicians to consider while working with minority youth to improve mental health outcomes.

Objective: This study reviewed the cases of 13 patients in a psychiatric hospital during the 2022 lorazepam injection shortage in the United States (US). The objective was to determine if there were any patterns to the management of the medication shortage of an essential psychiatric medication at a psychiatric hospital.

Methods: A retrospective review of eligible patients who had an order for lorazepam injection prescribed as needed (PRN) between July and October 2022 were divided into, and compared between, two groups: those who had orders permitting continued PRN administration of the medication and those who were discontinued.

Results: No negative behavioral issues were seen in the patients who had their doses discontinued.

Conclusion: The absence of negative psychiatric consequences suggests that either nonpharmacotherapeutic interventions were alternatively stabilizing or that the standing PRN orders for lorazepam injection were not needed for these patients. A proactive emergency management plan to address critical medication shortages has become an increasingly necessary contingency and would have been appropriate for use during this national shortage.

Point-of-care genetic testing for single nucleotide polymorphisms (SNPs) to improve psychiatric treatment in outpatient settings remains a challenge. The presence or absence of certain genomic alleles determines the activity of the encoded enzymes, which ultimately defines the individual's drug metabolism rate. Classification of poor metabolizers (PMs) and rapid/ultrarapid metabolizers (RMs/UMs) would facilitate personalization and precision of treatment. However, current pharmacogenomic (PGx) testing of multiple genes is comprehensive and requires quantitative analyses for interpretations. We recommend qualitative, fast-track, point-of-care screenings, which are one- or-two gene-based analyses, as a quick initial screening tool to potentially eliminate the need for an expensive quantitative send-out test, which is a costly and lengthy process. We speculate that these tests will be relevant in two major scenarios: 1) clinical psychiatry for treating disease states such as major depressive disorder (MDD) and posttraumatic stress disorder (PTSD), where trial and error is still the mainstay of drug selection and symptom management, a process that is associated with significant delay in optimizing individualized treatment and dose, and thus response; and 2) pain management, where quickly determining an effective level of analgesia while avoiding a toxic level can cause a drastic improvement in mental health.

Objective: The advent of next-generation sequencing (NGS) enabled the detection of low-level brain somatic variants in postsurgical tissue of focal cortical dysplasia (FCD). The genetic background of FCD Type I remains elusive, while the mammalian target of rapamycin (mTOR) pathway seems to have a relevant role in the pathogenesis of FCD Type II. Our goal was to uncover information on the molecular basis of FCD, performing whole genome sequencing (WGS) in postsurgical tissue to detect candidate brain-specific somatic variants, and evaluate their clinical significance.

Design: WGS was performed using paired peripheral venous blood and postsurgical pathological brain deoxyribonucleic acid (DNA) samples. Libraries were prepared using the Roche KAPA HyperPrep polymerase chain reaction (PCR) free library preparation kit. Paired-end 150bp reads were generated on the Illumina NovaSeq platform. The FASTQ files were processed using the nf-core sarek pipeline (version 3.0) to call somatic variants, which were then annotated with ANNOVAR. A screening strategy was applied to obtain relevant variants.

Results: Two female patients with drug-resistant epilepsy due to FCD who underwent surgical treatment were included. Regarding neuropathological diagnosis, one patient had FCD Type Ia and the other had FCD Type IIa. Five somatic nonsynonymous single nucleotide variants (SNVs) were detected using WGS, three in FCD Ia tissue (WDR24 p.Trp259Gly; MICAL1 p.Lys1036Arg; and KATNB1 p.Leu566Ile) and two in FCD IIa tissue (MATN4 p.Phe91Val and ANKRD6 p.His386Gln). All variants were predicted to be potentially pathogenic by at least two different tools. However, they were classified as variants of uncertain significance (VUS) according to the American College of Medical Genetics and Genomics (ACMG) criteria.

Conclusion: Brain-specific somatic missense variants were identified by NGS in new candidate genes (WDR24, MICAL1, KATNB1, MATN4, and ANKRD6) using postsurgical FCD tissue, which may contribute to further understanding of the genetic background of FCD. All the reported genes were previously related to epilepsy and/or malformations of central nervous system (CNS) and cortical development. However, the pathogenicity assessment of these variants and, consequently, their impact on clinical practice still poses an important challenge.

Purpose: The perceptions and responses to acute states of emergency may vary for people experiencing serious mental illness (SMI). Therefore, studying the mental health toll of the COVID-19 pandemic on psychiatric inpatients can inform psychiatric care in the event of future global crises. The objective of this study was to determine if there was a difference in the incidence of mental health manifestations in an adult inpatient state psychiatric facility during the COVID-19 pandemic, compared to the immediately preceding year.

Methods: Medication administration history for patients who utilized an as needed (PRN) medication for anxiety, agitation, or psychosis between March 1, 2020, and February 28, 2021, were analyzed. Secondary data on the incidence of restraints and seclusions were also examined.

Results: The total number of PRN medications was higher during the pre-COVID-19 time frame than during the pandemic (8,139 vs. 7,630), but this was not statistically significant. The following assessments were statistically significant: predominance of psychosis as a psychiatric symptom during the COVID-19 time frame (557 vs. 389), and the difference in PRN medication administration times between time frames as categorized by day (3,741 vs. 2,623), evening (3,844 vs. 4,239), and night (554 vs. 768).

Conclusion: During the height of the COVID-19 pandemic, the use of PRN medications for psychosis increased and the use of PRN medications for anxiety and agitation decreased among inpatients at a state psychiatric hospital. These results suggest that experiencing a worldwide pandemic in a psychiatric inpatient facility may be protective in some respects but may exacerbate symptoms of psychosis.

Persistent postural perceptual dizziness (PPPD) is a functional neurological disorder characterized by troublesome feelings of dizziness and might be precipitated by vestibular events, postural changes, psychopathologies, and/or a person's perceptual experiences. The diagnosis is confirmed by assessing a patient's history. A variety of psychiatric symptoms are associated with PPPD; anxiety and depression are the most common. Psychotherapy and pharmacotherapy can be clinically helpful in reducing psychiatric symptoms and dizziness. Early intervention improves prognosis.

This ongoing column is dedicated to providing information to our readers on managing legal risks associated with medical practice. We invite questions from our readers. The answers are provided by PRMS (www.prms.com), a manager of medical professional liability insurance programs with services that include risk management consultation and other resources offered to health care providers to help improve patient outcomes and reduce professional liability risk. The answers published in this column represent those of only one risk management consulting company. Other risk management consulting companies or insurance carriers might provide different advice, and readers should take this into consideration. The information in this column does not constitute legal advice. For legal advice, contact your personal attorney. Note: The information and recommendations in this article are applicable to physicians and other health care professionals so "clinician" is used to indicate all treatment team members.

Objective: The paucity of psychometric instruments is one of the challenges preventing the effective implementation of child cognitive health testing in Sub-Saharan countries. WORDS is a new memory assessment tool originally validated in a Zambian school-aged population.

Design: WORDS involves the standardized administration of a multitrial, verbal, free recall task with acquisition and immediate recall of a structured list of 16 words, followed by a second acquisition and delayed recall after a five-minute interference. A field trial was carried out to evaluate test feasibility of use, reliability, and validity. A total of 448 children, aged 5 to 17 years, were recruited at multiple Zambian clinical sites and schools.

Results: WORDS provides a summary score of recall productivity derived from the sum of items correctly retrieved at immediate and delayed recalls. Recall productivity showed a moderate/good reliability at test-retest with alternate forms (N=53, 95% confidence interval of the intraclass correlation [CI-IC]: 0.73, 0.54-0.85). Recall productivity was found to increase with age. Altered memory functioning, as indicated by lower recall productivity, was associated with poor health status resulting from chronic neurologic or medical disease or prolonged exposure to psychosocial stress and deprivation [recall productivity, range: 0-32, healthy mean (standard deviation [SD]): 15.36 (4.7) vs. poor health, mean (SD): 12.62 (4.8); F (1,446)=27.79, p=0.000, d=0.58].

Conclusion: WORDS addresses the need for new psychometric tools to evaluate memory in a school-aged Zambian population. WORDS has the potential for clinical utility to evaluate cognitive development, as well as the effect of different health conditions on memory. Study results warrant research to further validate its use in Sub-Saharan clinical and epidemiological research settings.