Innovations in clinical neuroscience最新文献

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.

Background: The purpose of the study was to explore social anxiety in adolescents as well as associated factors, such as parenting styles, self-esteem, quality of life, emotional intelligence, and brain activity, in social anxiety.

Methods: A systematic review of articles related to social anxiety in adolescents, associated factors, and brain activity from 2012 to 2022 was performed. Google Scholar, PubMed, and Science Direct were used as research gates to find the relevant articles.

Results: Ten articles were sorted among 50 articles according to inclusion criteria. The included studies were based in Pakistan, India, and China, which indicated similar results. Social anxiety was directly related to low self-esteem, authoritarian parenting style, interbrain synchrony between parents and adolescents, low quality of life, weak emotional intelligence, and higher activity in the amygdala of the brain.

Conclusion: Social anxiety is common in male-dominant (patriarchal) societies where authoritarian parenting is practiced, which leads to low self-esteem, weak emotional intelligence, and low quality of life in adolescents. Social anxiety is also associated with higher activity in the amygdala and lower gamma interbrain synchrony.

Osteopathic manipulative treatment (OMT) is a hands-on therapy that aims to promote homeostasis by individuating and treating somatic dysfunctions (SDs), including alterations in muscular tissue. Presently, patients affected by neurological disorders (e.g., Parkinson's disease [PD], multiple sclerosis [MS], and mild traumatic brain injury) often present to the osteopaths for treatment of motor symptoms, fatigue, stiffness, and chronic pain. OMT could be a safe adjunct treatment to promote physical wellness in such patients. However, there are many unanswered questions about its efficacy, especially regarding patients with neurological diseases. In this commentary, the authors encourage and promote the implementation of OMT as a complementary therapy in the neurorehabilitation field.

Objective: Recruitment of a sufficiently large and representative patient sample and its retention during central nervous system (CNS) trials presents major challenges for study sponsors. Technological advances are reshaping clinical trial operations to meet these challenges, and the COVID-19 pandemic further accelerated this development.

Method of research: The International Society for CNS Clinical Trials and Methodology (ISCTM; www.isctm.org) Innovative Technologies for CNS Trials Working Group surveyed the state of technological innovations for improved recruitment and retention and assessed their promises and pitfalls.

Results: Online advertisement and electronic patient registries can enhance recruitment, but challenges with sample representativeness, conversion rates from eligible prescreening to enrolled patients, data privacy and security, and patient identification remain hurdles for optimal use of these technologies. Electronic medical records (EMR) mining with artificial intelligence (AI)/machine learning (ML) methods is promising but awaits translation into trials. During the study treatment phase, technological innovations increasingly support participant retention, including adherence with the investigational treatment. Digital tools for adherence and retention support take many forms, including patient-centric communication channels between researchers and participants, real-time study reminders, and digital behavioral interventions to increase study compliance. However, such tools add technical complexities to trials, and their impact on the generalizability of results are largely unknown.

Conclusion: Overall, the group found a scarcity of systematic data directly assessing the impact of technological innovations on study recruitment and retention in CNS trials, even for strategies with already high adoption, such as online recruitment. Given the added complexity and costs associated with most technological innovations, such data is needed to fully harness technologies for CNS trials and drive further adoption.

This commentary examines three critical therapeutic questions that arise for all patients, particularly for patients with psychiatric illness. These questions involve fearing death, forgiving oneself for past acts, and disclosing medical and psychiatric conditions to others. These questions, which can be critical to providing optimal medical care in some contexts, are prompted by the movie White Noise, as it might provoke questions regarding death and self-disclosure in patients. Specific responses that might be helpful to patients are offered.

Lifestyle medicine is a new paradigm that shifts much of the responsibility toward the patient. There is increasing evidence that healthy lifestyle interventions can be effective treatment adjuncts for some of the most common mental illnesses. This article gives examples of how to integrate evidence-based, healthy lifestyle interventions into the overall treatment of common psychiatric conditions, including anxiety and posttraumatic stress disorder (PTSD).