Clinical Neurologic Features and Evaluation of PTEN Hamartoma Tumor Syndrome: A Systematic Review.

BACKGROUND AND OBJECTIVES: PTEN hamartoma tumor syndrome (PHTS) is a well-recognized hereditary tumor syndrome and is now also recognized as a common cause of monogenic autism spectrum disorder. There is a vast spectrum of phenotypic variability across individuals with PHTS, and in addition to neurodevelopmental challenges, patients with PHTS may experience a wide variety of neurologic challenges, many of which have only recently been described. Thus, this systematic review aimed to summarize the breadth of the current knowledge of neurologic conditions in individuals with PHTS. METHODS: We conducted a systematic review using the MEDLINE and EMBASE databases until January 2023. We included studies that reported neurologic signs, symptoms, and diagnoses in patients with a diagnosis of PHTS. Two independent reviewers extracted data (neurologic diagnoses and patient details) from each study. Case reports, case series, prospective studies, and therapeutic trials were included. We assessed the quality of evidence using the appropriate tool from the JBI, depending on study design. RESULTS: One thousand nine hundred ninety-six articles were screened, and 90 articles met the inclusion criteria. The majority of the included studies were case reports (49/90, 54%) or small case series (31/90, 34%). Epilepsy secondary to cerebral malformations, neurologic deficits from spinal or cranial arteriovenous malformations, and rare tumors such as dysplastic cerebellar gangliocytoma are among the more severe neurologic features reported across patients with PHTS. One interventional randomized control trial examining neurocognitive endpoints was identified and did not meet its efficacy endpoint. DISCUSSION: Our systematic review defines a broad scope of neurologic comorbidities occurring in individuals with PHTS. Neurologic findings can be categorized by age at onset in individuals with PTHS. Our study highlights the need for additional clinical trial endpoints, informed by the neurologic challenges faced by individuals with PHTS.

Construction of a quality of life scale for older individuals with neuro-co-cardiological diseases.

PURPOSE: This study aimed to develop a Quality of Life (QOL) assessment scale for older patients with Neuro-co-Cardiological Diseases (NCCD) and to evaluate the reliability and validity of the scale. METHOD: The study participants were derived from the Elderly Individuals with NCCD Registered Cohort Study (EINCCDRCS), a multicenter registry of patients with NCCD. The preliminary testing of the questionnaire was conducted among 10 older individuals aged 65 years and older who had NCCD and were recruited from the registry. Other patients who met the inclusion criteria participated in the field testing. After verifying the unidimensionality, local independence, and monotonicity assumptions of the scale, we employed the Rasch model within Item Response Theory framework to assess the quality of the scale through methods including internal consistency, criterion validity, Wright map, and item functioning differential. Subsequently, we assessed the construct validity of the scale by combining exploratory factor analysis with confirmatory factor analysis. RESULTS: Based on well-validated scales such as the short-form WHOQOL-OLD, HeartQOL, IQCODE, and SF-36, an original Neuro-co-Cardiological Diseases Quality of Life scale (NCCDQOL) was developed. 196 individuals from the EINCCDRCS were included in the study, with 10 participating in the preliminary testing and 186 in the field testing. Based on the results of the preliminary testing, the original questionnaire was refined through item deletion and adjustment, resulting in an 11-item NCCDQOL questionnaire. The Rasch analysis of the field testing data led to the removal of 21 misfitting individuals. The NCCDQOL demonstrated a four-category structure, achieved by combining two response categories. This structure aligned with the assumptions of unidimensionality, local independence, and monotonicity. The NCCDQOL also exhibited good validity and reliability. CONCLUSION: The revised NCCDQOL questionnaire demonstrated good reliability and validity in the Rasch model, indicating promising potential for clinical application.

Assessing Stigma Toward Mental, Neurological, and Substance Use Disorders in Liberia: A Population Representative Study.

Mental health stigma remains a major global problem associated with low self-esteem, social withdrawal, and poor health-seeking behavior in individuals. However, limited published evidence details these challenges in Liberia. Knowledge of public perceptions toward mental illness and key trends in the associations between knowledge of mental, neurological, and substance use disorders (MNSs) and stigma is crucial to designing evidence-based mental health policies and supporting service delivery. This population-representative survey explored and quantified stigma related to MNSs in four health regions in Liberia, using a multistage stratified random sampling of 1,148 residents. Four internationally validated scales were used to assess knowledge, attitudes, and perceptions toward schizophrenia, bipolar disorder, epilepsy, and substance use disorder including the 1) Mental Health Attribution Questionnaire; 2) Five Question Stigma Indicator Questionnaire to assess Community Stigma; 3) Reported Intended Behavioral Scale; and 4) Personal Acceptance Level of Conditions. Data from interviews with 1,140 participants (96% response rate) were analyzed using central tendencies, hypothesis testing with simple logistic regression, and bivariate analysis for association between dependent and independent variables. Low mental health knowledge was found to be a strong predictor of discriminatory behaviors and stigma. Results revealed that exposure to movies or television significantly predicted increased discriminatory tendencies and that a lesser degree of acceptance was shown toward substance use disorder than any of the other conditions. These findings underscore the need for increased awareness and education about mental health to eliminate stigma and promote better care and inclusion for people living with MNSs.

Controversies in COVID-19: Diagnostic Evaluation and Management in Neuro-COVID.

SARS-CoV-2 is a virus in the coronavirus family originating out of Wuhan, China clinically known as COVID-19. While traditionally thought of as a respiratory virus, COVID-19 can have a multi-organ impact due to its invasion and widespread distribution throughout the body and via the angiotensin converting enzyme. Neurologic events due to COVID-19 are common, especially in the critically ill, and are called Neuro-COVID. Among these events are peripheral and central nervous system diseases such as Guillain-Barré, ischemic stroke, and various types of encephalitis. The impact of Neuro-COVID is devastating and is often far more severe than its non-COVID-19 form. Immunosuppressive or immunomodulatory therapy is often a mainstay of treatment, such as for encephalitis and Guillain-Barré, respectively, while management may fall in line with conventional processes in most cases, such as ischemic stroke. Much remains to be studied about the evaluation and management of Neuro-COVID.

iPSC-Derived LCHADD Retinal Pigment Epithelial Cells Are Susceptible to Lipid Peroxidation and Rescued by Transfection of a Wildtype AAV-HADHA Vector.

Purpose: Progressive choroid and retinal pigment epithelial (RPE) degeneration causing vision loss is a unique characteristic of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD), a fatty acid oxidation disorder caused by a common c.1528G>C pathogenic variant in HADHA, the α subunit of the mitochondrial trifunctional protein (TFP). We established and characterized an induced pluripotent stem cell (iPSC)-derived RPE cell model from cultured skin fibroblasts of patients with LCHADD and tested whether addition of wildtype (WT) HAHDA could rescue the phenotypes identified in LCHADD-RPE. Methods: We constructed an rAAV expression vector containing 3' 3xFLAG-tagged human HADHA cDNA under the transcriptional control of the cytomegalovirus (CMV) enhancer-chicken beta actin (CAG) promoter (CAG-HADHA-3XFLAG). LCHADD-RPE were cultured, matured, and transduced with either AAV-GFP (control) or AAV-HADHA-3XFLAG. Results: LCHADD-RPE express TFP subunits and accumulate 3-hydroxy-acylcarnitines, cannot oxidize palmitate, and release fewer ketones than WT-RPE. When LCHADD-RPE are exposed to docosahexaenoic acid (DHA), they have increased oxidative stress, lipid peroxidation, decreased viability, and are rescued by antioxidant agents potentially explaining the pathologic mechanism of RPE loss in LCHADD. Transduced LCHADD-RPE expressing a WT copy of TFPα incorporated TFPα-FLAG into the TFP complex in the mitochondria and accumulated significantly less 3-hydroxy-acylcarnitines, released more ketones in response to palmitate, and were more resistant to oxidative stress following DHA exposure than control. Conclusions: iPSC-derived LCHADD-RPE are susceptible to lipid peroxidation mediated cell death and are rescued by exogenous HADHA delivered with rAAV. These results are promising for AAV-HADHA gene addition therapy as a possible treatment for chorioretinopathy in patients with LCHADD.

[Neurological long-term consequences of COVID-19]. / Neurologische Langzeitfolgen von COVID-19.

The COVID-19 pandemic faced the public health sector with unprecedented challenges. While the immediate impact on society seems to diminish, reports of long-term health consequences persist. Among the most frequently reported symptoms are neurological complaints such as persistent fatigue and cognitive impairments. Scientific understanding is evolving rapidly, and first therapeutic approaches are emerging. However, many questions still remain unanswered.

Efficient diagnostic classification of diverse pathologies through contextual eye movement data analysis with a novel hybrid architecture.

The analysis of eye movements has proven valuable for understanding brain function and the neuropathology of various disorders. This research aims to utilize eye movement data analysis as a screening tool for differentiation between eight different groups of pathologies, including scholar, neurologic, and postural disorders. Leveraging a dataset from 20 clinical centers, all employing AIDEAL and REMOBI eye movement technologies this study extends prior research by considering a multi-annotation setting, incorporating information from recordings from saccade and vergence eye movement tests, and using contextual information (e.g. target signals and latency of the eye movement relative to the target and confidence level of the quality of eye movement recording) to improve accuracy while reducing noise interference. Additionally, we introduce a novel hybrid architecture that combines the weight-sharing feature of convolution layers with the long-range capabilities of the transformer architecture to improve model efficiency and reduce the computation cost by a factor of 3.36, while still being competitive in terms of macro F1 score. Evaluated on two diverse datasets, our method demonstrates promising results, the most powerful discrimination being Attention & Neurologic; with a macro F1 score of up to 78.8%; disorder. The results indicate the effectiveness of our approach in classifying eye movement data from different pathologies and different clinical centers accurately, thus enabling the creation of an assistant tool in the future.

Therapeutic Plasma Exchange in Neurological Conditions: An Observation from the Eastern Part of India.

INTRODUCTION: Therapeutic plasma exchange (TPE) is an extracorporeal process of separation of plasma from the cellular components of blood and its replacement with analogous fluids. This process is effective in treatment of disease conditions from dysregulation of the humoral immune system by removal of various humoral pathogenic substances like antibodies, immune complexes, monoclonal proteins, toxins or cytokine(s) and/or the replenishment of a specific plasma factor. AIM AND OBJECTIVE: To evaluate major indications of therapeutic plasma exchange in neurological disorders. To identify major complications associated and factors associated with premature cessation of the therapeutic plasma exchange cycle. Materials and Methods: This is a hospital based retrospective study conducted by analyzing medical records of patients, who had undergone therapeutic plasma exchange (TPE) for various neurological disorders at IMS & SUM hospital. Medical records total 118 patients who underwent TPE from January 2016 to December 2021 were analyzed. The demographic data, blood group pattern and indications for TPE were enumerated from the records. Various complications of TPE and reasons for incomplete TPE cycle were documented and analyzed. RESULTS: A total of 508 TPE procedures were performed on 118 patients. In this study 61 patients were male and 57 patients were female. O-blood group was commonest blood group among the patients. GBS is the commonest indication of TPE. 57.6 % of patients could complete all sessions TPE cycle. Blockage of vascular access is the commonest cause of incomplete TPE session. Cramps (33%) and mild transient hypotension (27.1%0 were the commonest complications observed. CONCLUSION: TPE is a safe and effective treatment option for various immune-mediated neurological disorders and should be considered in managing these disorders.

Résumé Introduction:L'échange de plasma thérapeutique (TPE) est un processus extracorporel de séparation du plasma des composants cellulaires du sang et de son remplacement par des fluides analogues. Ce processus est efficace dans le traitement des conditions de la maladie à partir de la dérégulation du système immunitaire humoral par élimination de diverses substances pathogènes humorales comme les anticorps, les complexes immunitaires, les protéines monoclonales, les toxines ou les cytokines et / ou la réapprovisionnement d'un facteur plasmatique spécifique. Objectif et objectif: évaluer les principales indications de l'échange de plasma thérapeutique dans les troubles neurologiques. Pour identifier les complications majeures associées et les facteurs associés à la cessation prématurée du cycle d'échange de plasma thérapeutique.Matériel et méthodes:Il s'agit d'une étude rétrospective en milieu hospitalier menée en analysant les dossiers médicaux des patients, qui avaient subi un échange de plasma thérapeutique (TPE) pour divers troubles neurologiques de l'hôpital IMS & Sum. Les dossiers médicaux au total 118 patients ayant subi un TPE de janvier 2016 à décembre 2021 ont été analysés. Les données démographiques, le modèle de groupe sanguin et les indications pour le TPE ont été énumérés à partir des enregistrements. Divers Les complications du TPE et les raisons du cycle TPE incomplet ont été documentées et analysées.Résultats:Un total de 508 procédures TPE ont été effectuées sur 118 patients. Dans cette étude, 61 patients étaient des hommes et 57 patients étaient des femmes. Le groupe de sang O était le groupe sanguin le plus commun chez les patients. Le GBS est l'indication la plus courante du TPE. 57,6% des patients pourraient terminer toutes les séances du cycle TPE. Le blocage de l'accès vasculaire est la cause la plus courante de la session TPE incomplète. Les crampes (33%) et l'hypotension transitoire légère (27,1% 0 étaient les complications les plus courantes observées.Conclusion:TPE est une option de traitement sûre et efficace pour divers troubles neurologiques à médiation immunitaire et doit être pris en compte dans la gestion de ces troubles.

[COMPLEX REGIONAL PAIN SYNDROME AND FUNCTIONAL NEUROLOGICAL DISORDER IN CHILDREN AND ADOLESCENTS: UNITY IN DIVERSITY].

INTRODUCTION: Functional neurological disorder (FND) and complex regional pain syndrome (CRPS) are disorders that affect quality of life. CRPS diagnosis is based on Budapest criteria that include various signs/symptoms. Despite the similarity in the etiology/pathophysiology of FND and CRPS, the joint prevalence of these two conditions in youth has not yet been reported. Given that both phenomena are less familiar among pediatric patients, it is crucial to thoroughly characterize them and establish a clear differential diagnosis. This, in turn, holds significant implications for guiding therapeutic interventions. OBJECTIVES: We aimed to examine: 1) the clinical profile of children with FND; 2) the prevalence of CRPS among children with FND; and 3) differences in clinical characteristics and in Budapest's symptoms/signs between children with FND and those with a co-diagnosis of FND and CRPS. METHODS: Sixty-one children (mean age: 13.70+2.93 years; 75.4% females) diagnosed with FND were studied. Sample's demographic, clinical characteristics and the Budapest CRPS classification criteria were collected from medical files. RESULTS: Most children with FND reported sensory (67%) and motor (88%) symptoms. Forty-four percent had a co-diagnosis of FND and CRPS. Among these children, 100% reported sensory and motor/tropical, 74% vasomotor, and 65% sudomotor symptoms. The prevalence of Budapest symptoms, except for motor-function impairment, was significantly higher among children with a co-diagnosis compared to children with FND alone. CONCLUSIONS: The high frequency of symptoms and clinical signs in children with co-incidence of CRPS and FND may indicate a shared developmental mechanism and is important for the development of appropriate rehabilitation interventions.

Neurological Symptoms and Cause of Death Among Young Children in Low- and Middle-Income Countries.

Importance: The emergence of acute neurological symptoms in children necessitates immediate intervention. Although low- and middle-income countries (LMICs) bear the highest burden of neurological diseases, there is a scarcity of diagnostic and therapeutic resources. Therefore, current understanding of the etiology of neurological emergencies in LMICs relies mainly on clinical diagnoses and verbal autopsies. Objective: To characterize the association of premortem neurological symptoms and their management with postmortem-confirmed cause of death among children aged younger than 5 years in LMICs and to identify current gaps and improve strategies to enhance child survival. Design, Setting, and Participants: This cross-sectional study was conducted between December 3, 2016, and July 22, 2022, at the 7 participating sites in the Child Health and Mortality Prevention Surveillance (CHAMPS) network (Bangladesh, Ethiopia, Kenya, Mali, Mozambique, Sierra Leone, and South Africa). Minimally invasive tissue sampling was performed at the CHAMPS sites with specimens from deceased children aged younger than 5 years. This study included deceased children who underwent a premortem neurological evaluation and had a postmortem-confirmed cause of death. Data analysis was performed between July 22, 2022, and January 15, 2023. Main Outcomes and Measures: Descriptive analysis was performed using neurological evaluations from premortem clinical records and from postmortem determination of cause of death (based on histopathology, microbiological testing, clinical records, and verbal autopsies). Results: Of the 2127 deaths of children codified during the study period, 1330 (62.5%) had neurological evaluations recorded and were included in this analysis. The 1330 children had a median age of 11 (IQR, 2-324) days; 745 (56.0%) were male and 727 (54.7%) presented with neurological symptoms during illness before death. The most common postmortem-confirmed neurological diagnoses related to death were hypoxic events (308 [23.2%]), meningoencephalitis (135 [10.2%]), and cerebral malaria (68 [5.1%]). There were 12 neonates with overlapping hypoxic events and meningoencephalitis, but there were no patients with overlapping meningoencephalitis and cerebral malaria. Neurological symptoms were similar among diagnoses, and no combination of symptoms was accurate in differentiating them without complementary tools. However, only 25 children (18.5%) with meningitis had a lumbar puncture performed before death. Nearly 90% of deaths (442 of 511 [86.5%]) with neurological diagnoses in the chain of events leading to death were considered preventable. Conclusions and Relevance: In this cross-sectional study of children aged younger than 5 years, neurological symptoms were frequent before death. However, clinical phenotypes were insufficient to differentiate the most common underlying neurological diagnoses. The low rate of lumbar punctures performed was especially worrying, suggesting a challenge in quality of care of children presenting with neurological symptoms. Improved diagnostic management of neurological emergencies is necessary to ultimately reduce mortality in this vulnerable population.

Validation of a mobile application for adults with neurological lower urinary tract dysfunction.

OBJECTIVE: to validate with experts the content of a mobile application to guide patients with neurological dysfunction of the lower urinary tract. METHOD: methodological study. For content validation, 81 specialist nurses took part. The data collection instrument was designed in the form of an electronic form, and included assessments of the application's objectives, content, language, relevance, functionality and usability. The data was submitted to descriptive and inferential statistical analysis, based on the measurement of the Content Validity Index. RESULTS: the overall content validity index of the prototype application was 0.98. The lowest item (0.93) was related to the adequacy of the font size, and the highest module (1) was associated with usability, showing ease in handling the application. The experts recommended correcting spelling and grammar, as well as adding and minimizing information, standardizing language, among others. CONCLUSION: the content of the MeduLar sem Medo ® mobile app was validated with excellence by specialists, and presented important resources for teaching urinary dysfunction control and adherence to rehabilitation. With these results, it is possible to envision the next stages of validation, with application in the populations for which it is intended and incorporation of this care technology into the Unified Health System.

World Federation of Neurology Needs Registry Survey 2021.

The WFN Needs Registry survey was developed and conducted over two and a half years commencing in 2020 to investigate the accessibility and affordability of neurological services and therapeutics and the most urgent needs. METHOD: An experienced neurologist responded in each of 118 societies to an online electronic survey comprising 13 questions. General data sought comprised the respondent's training, place of practice, duration in practice, number of neurologists in the society, health care system and types of neurological practice available. Specific data collected comprised neurological facilities, specialist services available, resources, therapeutics accessibility, challenges and three most urgent needs. RESULTS: Responding neurologists spent a median of 26 years in practice and represented a median of 225 neurologists per society. Of 13 classes of neuromedicines deemed readily available to 70% of the population, 41 societies listed ≥1 and 14 societies ≥3 unavailable. The three most frequent unavailable neuromedicines were second level AEDs, Dopamine agonists and MS DMTs. Of 14 neurological services, 15 societies had all services accessible and affordable, 13 had none and 72 had ≥1 services either inaccessible or unaffordable. EEG, Epilepsy, Headache and EMG services were most available; Neurogenetics, Neuropsychology, Neurorehabilitation and Neurodevelopmental services were least available. Of 13 specified challenges, lack of subspecialists and specialty centers were both identified by 61% of societies followed by costs of neurological care, neuromedicines availability and stigma. Ten societies had no challenges. CONCLUSION: A unique insight into the inequities of neurological care globally and a potential tool to assist their remedy.

Neurological hospitalisations in childhood cancer survivors treated before 2001: findings from the French Childhood Cancer Survivor Study cohort.

PURPOSE: Childhood cancer survivors (CCS) have an increased risk of developing late chronic diseases, which can be influenced by the cancer type and its treatment. These chronic diseases can be severe and disabling, typically emerging years to decades after treatment. These deficits negatively impact quality of life, intelligence quotient, and memory. This study investigated how much the cancer type and treatment could affect the neurological hospitalisations in the French Childhood Cancer Survivors Study (FCCSS). METHODS: We included 5579 childhood cancer survivors (CCS), diagnosed with solid tumours or lymphoma between 1945 and 2000, treated before 2001 and below the age of 21 years at initial treatment. The follow-up period was from 2006 to 2018. Hospitalisation data were obtained by linkage with the National Health Data System. We calculated the relative hospitalisation rate (RHRs) and absolute excess rate (AERs). Multivariable analyses were conducted using a Generalized Linear Model (GLM) with a Poisson distribution to estimate the association between neurological hospitalisation and patient characteristics. The expected number of hospitalisations served as an offset to compare the risk for FCCSS survivors with that of the reference population. Risk estimates were reported as relative risk (RR) with 95% confidence intervals. RESULTS: The hospitalisation rate for CCS was 114.2 per 10,000 person-years (PY), compared to 48.4 in the reference population. The highest hospitalisation rates were observed for epilepsy (AER = 27.1 per 10000 PY, 95%CI: 23.5-31.2 and RHR = 5.1, 95%CI 4.4-5.7). In multivariable analyses, central nervous system (CNS) tumours survivors had the highest relative risk (RR) of hospitalisation (RR = 9.4, 95%CI: 6.7-13.1) followed by neuroblastoma survivors (RR = 2.5, 95%CI: 1.7-3.7). In the whole population, survivors who received radiation to the head and neck had a significantly higher risk of hospitalisation (RR = 3.9, 95%CI: 3.3-4.7) compared to those who did not receive radiotherapy. CONCLUSIONS: Head and neck irradiation was identified as a strong risk factor for hospitalisation. This underlines the importance of implementing specific neurologic surveillance programs for at-risk individuals.

Prehospital neurological emergencies- a survey on the state of prehospital neurological assessment by emergency medical professionals.

BACKGROUND: Neurological emergencies are one of the major diagnosis groups in the Emergency Medical Services (EMS) with the highest rate of misdiagnosis. Despite the knowledge of time sensitivity and the importance of prehospital factors, prehospital delay is common. Although several stroke triage scales have been developed, a gold standard in the prehospital setting is lacking. OBJECTIVES: Our aim was to evaluate the perception of neurological emergencies by EMS personnel and to identify current problems, difficulties and opportunities for improvement in the prehospital management of stroke, seizure, non-specific neurological symptoms, and paediatric neurological emergencies. METHODS: The study was conducted as an online survey through SoSci Survey and was made available from March 1st to June 30th 2023 to all personnel working in emergency medical services. The access link was distributed through snowballing, social media, and through a QR code on a promotional poster. The survey was completed anonymously. The final survey consisted of 30 questions in German on the topics of neurological emergencies, general neurological assessment, specific neurological examination including paediatric assessment, stroke, and seizures, and finally suggestions for improvement. RESULTS: The largest group of participants were paramedics, who estimated to encounter neurological emergencies at a general rate of 20-60%. When unease was felt, the main reasons were ambiguity of symptoms and insufficient admission capacity of hospitals. The biggest challenges were highly varied. Almost 80% of participants assumed that the neurological assessment would be omitted in difficult patient groups such as demented, intoxicated or children. 75% felt uncomfortable making a paediatric assessment, 50% were unfamiliar with the Paediatric Glasgow Coma Scale. CONCLUSIONS: Support through more standardized practical training and defined, uniform guidelines is needed. There was also a clear need for peer collaboration, feedback and case sharing. Digitalization, the usage of telemedicine and updated versions of the documentation protocols including paediatric adaptations to current guidelines could further improve current neurological assessment in the prehospital setting.

The impact of genetic variations in the serotonergic system on symptom severity and clinical outcome in functional neurological disorders.

OBJECTIVE: We studied gene-environment, as well as gene-gene interaction to elucidate their effects on symptom severity and predict clinical outcomes in functional neurological disorders (FND). METHODS: Eighty-five patients with mixed FND were genotyped for ten single-nucleotide polymorphisms (SNP) from seven different stress-related genes. We tested cross-sectionally the association between genotype and the symptomatology of FND (symptom severity assessed with the examiner-based clinical global impression score [CGI] and age of onset). Clinical outcome was assessed in 52 patients who participated in a follow-up clinical visit after eight months (following their individual therapies as usual). We tested longitudinally the association between genotype and clinical outcome in FND. We examined the contribution of each SNP and their interaction between them to FND symptomatology and outcome. RESULTS: We identified a nominal association between tryptophan hydroxylase 1 (TPH1) rs1800532 and symptom severity (CGI1) in FND under a codominant model (T/T: ßT/T = 2.31, seT/T = 0.57; G/T: ßG/T = -0.18, seG/T = 0.29, P = 0.035), with minor allele (T) carriers presenting more severe symptoms. An association was identified between TPH1 and clinical outcome, suggesting that major allele (G) carriers were more likely to have an improved outcome under a codominant model (G/T: ORG/T = 0.18, CIG/T = [0.02-1.34]; T/T: ORT/T = 2.08, CIT/T = [0.30-14.53], P = 0.041). Our analyses suggested a significant gene-gene interaction for TPH2 (rs4570625) and OXTR (rs2254298) on symptom severity, and a significant gene-gene interaction for TPH1, TPH2 and BDNF (rs1491850) on clinical outcome. CONCLUSION: FND might arise from a complex interplay between individual predisposing risk genes involved in the serotonergic pathway and their gene-gene interactions.

The effect of prone-position ventilatory strategy among neurology patients with SARS-CoV-2: A cross-sectional survey.

Awake-prone position combined with noninvasive ventilation or high-flow nasal cannula ventilation has been shown to be safe in the treatment of patients with moderate to severe ARDS and COVID-19, and may avoid intubation and reduce patient mortality. We conducted a cross-sectional study in a hospital to observe the effect of prone position on neurological patients with SARS-CoV-2. A total of 52 neurological patients with SARS-CoV-2 participated in the survey. Most patients (76.92%) had cerebrovascular disease combined with SARS-CoV-2. After prone position, the oxygen saturation increased by 3.25% ± 3.02%. The number of patients with an oxygen saturation of 95% or more increased by 28.85%. Among the 3 types of neurological diseases, the oxygen saturation improvement values in patients with encephalitis or encephalopathy was the greatest, and cerebrovascular disease was the least. Oxygen saturation improvements did not differ among delivery modes. Prone position nursing can improve the effect of oxygen therapy on patients with neurological diseases combined with SARS-CoV-2 infection. Prone position nursing can slow the need for advanced equipment such as ventilators during the COVID-19 pandemic.