Additional file 1 of Catatonia in adult anti-NMDAR encephalitis: an observational cohort study

Additional file 1: Supplementary Table S1. Outcomes of patients assessed by mRS and CASE at follow-up

DataSheet_1_Risk Prediction Models for Early ICU Admission in Patients With Autoimmune Encephalitis: Integrating Scale-Based Assessments of the Disease Severity.docx

BackgroundIn patients with autoimmune encephalitis (AE), the prediction of progression to a critically ill status is challenging but essential. However, there is currently no standard prediction model that comprehensively integrates the disease severity and other clinical features. The clinical assessment scale in autoimmune encephalitis (CASE) and the modified Rankin Scale (mRS) have both been applied for evaluating the severity of AE. Here, by combining the two scales and other clinical characteristics, we aimed to investigate risk factors and construct prediction models for early critical care needs of AE patients.MethodsDefinite and probable AE patients who were admitted to the neurology department of Tongji Hospital between 2013 and 2021 were consecutively enrolled. The CASE and mRS scores were used to evaluate the overall symptom severity at the time of hospital admission. Using logistic regression analysis, we analyzed the association between the total scores of the two scales and critical illness individually and then we evaluated this association in combination with other clinical features to predict early intensive care unit (ICU) admission. Finally, we constructed four prediction models and compared their performances.ResultsOf 234 patients enrolled, forty developed critical illness and were early admitted to the ICU (within 14 days of hospitalization). Four prediction models were generated; the models were named CASE, CASE-plus (CASE + prodromal symptoms + elevated fasting blood glucose + elevated cerebrospinal fluid (CSF) white blood cell (WBC) count), mRS and mRS-plus (mRS + prodromal symptoms + abnormal EEG results + elevated fasting blood glucose + elevated CSF WBC count) and had areas under the ROC curve of 0.850, 0.897, 0.695 and 0.833, respectively. All four models had good calibrations. In general, the models containing “CASE” performed better than those including “mRS”, and the CASE-plus model demonstrated the best performance.ConclusionOverall, the symptom severity at hospital admission, as defined by CASE or mRS, could predict early ICU admission, especially when assessed by CASE. Adding other clinical findings, such as prodromal symptoms, an increased fasting blood glucose level and an increased CSF WBC count, could improve the predictive efficacy.</p

Image1_A Novel Loss-of-Function Mutation in the NPRL3 Gene Identified in Chinese Familial Focal Epilepsy with Variable Foci.JPEG

Familial focal epilepsy with variable foci is an autosomal dominant disorder characterized by partial epilepsy with variable foci. In this study, we report a six-generation with segregation of the mutation present in four generations Chinese family presenting with focal epilepsy with variable foci. Whole exome sequencing confirms a novel pathogenic mutation in the NPRL3 gene (c316C>T; p. Q106*). PCR, Western blotting, and immunohistochemistry were conducted to analyze the gene transcription, protein expression, and subcellular localization of NPRL3 and related signaling molecules in peripheral blood cells from family members. As compared with healthy family members, both mRNA level and protein expression of NPRL3 are decreased in peripheral blood cells of the mutation carrier. In addition, the expression of downstream molecular Phospho-p70 S6 kinase (P-s6k) are increased consequently. Our findings expand the genotypic and phenotypic spectrum of the NPRL3-associated epilepsy and reveal the mechanisms of mTOR pathway signaling and GATOR1 pathogenesis in focal epilepsies, providing exciting potential for future diagnostic and therapeutic interventions. However, further in vitro and animal experiments are still needed to evaluate the role of NPRL3 loss-of-function mutation in epileptogensis.</p

DataSheet1_A Novel Loss-of-Function Mutation in the NPRL3 Gene Identified in Chinese Familial Focal Epilepsy with Variable Foci.PDF

Familial focal epilepsy with variable foci is an autosomal dominant disorder characterized by partial epilepsy with variable foci. In this study, we report a six-generation with segregation of the mutation present in four generations Chinese family presenting with focal epilepsy with variable foci. Whole exome sequencing confirms a novel pathogenic mutation in the NPRL3 gene (c316C>T; p. Q106*). PCR, Western blotting, and immunohistochemistry were conducted to analyze the gene transcription, protein expression, and subcellular localization of NPRL3 and related signaling molecules in peripheral blood cells from family members. As compared with healthy family members, both mRNA level and protein expression of NPRL3 are decreased in peripheral blood cells of the mutation carrier. In addition, the expression of downstream molecular Phospho-p70 S6 kinase (P-s6k) are increased consequently. Our findings expand the genotypic and phenotypic spectrum of the NPRL3-associated epilepsy and reveal the mechanisms of mTOR pathway signaling and GATOR1 pathogenesis in focal epilepsies, providing exciting potential for future diagnostic and therapeutic interventions. However, further in vitro and animal experiments are still needed to evaluate the role of NPRL3 loss-of-function mutation in epileptogensis.</p

Additional file 1: of Deficiency of TREK-1 potassium channel exacerbates blood-brain barrier damage and neuroinflammation after intracerebral hemorrhage in mice

Figure S1. (a) Immunofluorescent-stained images of the TREK-1 negative control co-stained with GFAP and DAPI. (b) The expression of TREK-1 in neurons was detected using immunofluorescent staining. (c-d) PCR and WB genotyping results of WT mice and TREK-1−/− mice. (e-f) The full image containing the target band (TREK-1, GAPDH) with molecular weight markers. Figure S2. (a) Statistical analysis of ipsilateral brain water content in the ICH group compared to the sham group. (b-c) The full images containing the target band (AQP4, β-actin) with molecular weight markers. Figure S3. The full images containing the bands MMP9 (a), claudin-5 (b), occluding (c), ZO-1 (d) with molecular weight markers. Figure S4. (a) Co-staining of MPO negative control with DAPI. (b) Immunofluorescence staining of Iba-1 negative control with DAPI. (c) Immunofluorescent staining of TUNEL negative control co-stained with NeuN and DAPI.Scale bar = 50μm. (d) Cover image for this issue. Table S1. A detailed list of the mice used in different groups in this study. Table S2. A detailed catalog of antibodies and reagents used in this study including the manufacturer, working concentration, and the catalog number. (PDF 838 kb

Additional file 1 of Explore the influencing factors and construct random forest models of post-stroke depression at 3 months in males and females

Additional file 1: Table S1. The comparison of demographic and clinical variables between training group and validation group of male and female patients. Table S2. The comparison of demographic variables in PSD with and without antidepressant use of male and female patients. Table S3. Tolerance of collinearity diagnosis between independent variables entered into binary logistic regression analyses for males. Table S4. Tolerance of collinearity diagnosis between independent variables entered into binary logistic regression analyses for female. Table S5. The association between BI score and PSD at 3 months in males according to stroke severity. Figure S1. A: The number of male random forest trees; B: The number of female random forest trees

Table1_Association between minimally invasive surgery and late seizures in patients with intracerebral hemorrhage: A propensity score matching study.docx

PurposeThe association between minimally invasive surgery (MIS) for hematoma evacuation and late seizures after intracerebral hemorrhage (ICH) remains uncertain. We aimed to investigate whether MIS increases the risk of late seizures after ICH and identify the risk factors for late seizures in this patient subgroup.MethodsWe retrospectively included consecutive inpatients diagnosed with ICH at two tertiary hospitals in China. The subjects were divided into the MIS group (ICH patients who received MIS including hematoma aspiration and thrombolysis) and conservative treatment group (ICH patients who received conservative medication). Propensity score matching was performed to balance possible risk factors for late seizures between the MIS and conservative treatment groups. Before and after matching, between-group comparisons of the incidence of late seizures were performed between the MIS and conservative treatment groups. Univariate and multivariate logistic regression analyses were used to identify independent risk factors for late seizures in MIS-treated patients.ResultsA total of 241 and 1,689 patients were eligible for the MIS and conservative treatment groups, respectively. After matching, 161 ICH patients from the MIS group were successfully matched with 161 ICH patients from the conservative treatment group (1:1). Significant differences (p ConclusionOur study revealed that receiving MIS did not increase the incidence of late seizures after ICH. Additionally, cortical involvement and NIHSS scores were independent risk factors for late seizures in MIS-treated patients.</p

Additional file 1 of Psychopathological network for early-onset post-stroke depression symptoms

Additional file 1: Supplemental Table I. Image Acquisition Protocols. Supplemental Figure I. Z-score standardized values of closeness, betweenness and strength for all nodes.Closeness centrality refers to the inverse sum of the lengths of the shortest paths from a node to all other nodes. Betweenness centrality is the number of times a node lies on the shortest path between two other nodes. Strength centrality is the sum of all absolute values of edges connected to a node. Betweenness and closeness have demonstrated poor reliability in psychopathology network studies. Expected influence considers both positive and negative edges and may be more reliable and interpretable than strength. DepMood indicates depressed mood; Guilt, guilt feelings; Suic, suicidality; Insomn, insomnia; Workact, loss of interest in work and activities; Retard, retardation; Agit, agitation; PsyAnx, psychiatric anxiety; SomAnx, somatic anxiety; GISom, gastrointestinal somatic symptoms; GenSom, general somatic symptoms; Hypochon, hypochondriasis; WtLoss, weight loss. Supplemental Figure II. Stability of betweenness, closeness and strength in 1,000 case-dropping bootstraps. CS-C for betweenness: 0.672; CS-C for closeness: 0.75; CS-C for strength: 0.75. Supplemental Figure III. Bootstrap edge weights difference test between non-zero estimated edge-weights in the network. Bootstrapped difference tests (α = 0.05) between edge-weights that were non-zero in the network. Significant differences between two edges are indicated by black boxes, non-significant differences are indicated by grey boxes. The color of the boxes (ranging from white to blue) corresponds to the thickness of the edge. DepMood indicates depressed mood; Guilt, guilt feelings; Suic, suicidality; Insomn, insomnia; Workact, loss of interest in work and activities; Retard, retardation; Agit, agitation; PsyAnx, psychiatric anxiety; SomAnx, somatic anxiety; GISom, gastrointestinal somatic symptoms; GenSom, general somatic symptoms; Hypochon, hypochondriasis; WtLoss, weight loss

Data_Sheet_1_Dysregulated Long Non-coding RNAs in Parkinson’s Disease Contribute to the Apoptosis of Human Neuroblastoma Cells.pdf

The molecular mechanism underlying Parkinson’s disease (PD), an increasingly common neurodegenerative disease, remains unclear. Long non-coding RNA (lncRNA) plays essential roles in gene expression and human diseases. We hypothesize that lncRNAs are involved in neuronal degeneration of PD. Using microarray, we identified 122 differentially expressed (DE) lncRNAs and 48 DE mRNAs between the circulating leukocytes from PD patients and healthy controls. There were 714 significant correlations (r ≥ 0.8 or ≤−0.8, p < 0.05) among the DE lncRNAs and mRNAs. Gene function and pathway analysis of the 48 DE mRNAs revealed biological pathways related to PD pathogenesis, including immune response, inflammatory response, MAPK, and Jak-STAT pathway. In a cohort of 72 PD patients and 22 healthy controls, the upregulation of four lncRNAs (AC131056.3-001, HOTAIRM1, lnc-MOK-6:1, and RF01976.1-201) in circulating leukocytes of PD patients were further confirmed. These lncRNAs were also upregulated in THP-1 cells, a human monocytic cell line, after inflammatory stimulation. Interestingly, the conditioned culture medium of THP-1 cells or 6-OHDA significantly increased the expression of these lncRNAs in SH-SY5Y cells, a human neuroblastoma cell line expressing dopaminergic markers. Importantly, overexpression of AC131056.3-001 or HOTAIRM1 increased baseline and 6-OHDA-induced apoptosis of SH-SY5Y cells. Taken together, we identified distinct expression profiles of lncRNA and mRNA in circulating leukocytes between PD patients and healthy controls. Dysregulated lncRNAs such as HOTAIRM1 and AC131056.3-001 may contribute to PD pathogenesis by promoting the apoptosis of dopaminergic neuron.</p

Additional file 1 of Blood biomarkers of post-stroke depression after minor stroke at three months in males and females

Additional file 1