Familial schwannomatosis carrying LZTR1 variant p.R340X with brain tumor: A case report.

Schwannomatosis (SWN) is a rare genetic condition characterized by the risk of developing multiple benign peripheral nerve sheath tumors; however, the risk of developing malignant tumors in patients with SWN remains unclear. This study described the case of a 57-year-old Japanese man diagnosed with SWN whose older brother also had SWN. Whole-exome sequencing identified a heterozygous mutation [c.1018C > T (p.Arg340X)] in the LZTR1 gene, linked to the RAS/MAPK pathway, in the patient and his brother. Moreover, the patient had aphasia and right-sided paralysis because of a brain tumor. RNA sequencing revealed the remarkable upregulation of several genes associated with oxidative stress, such as the reactive oxygen species pathway and oxidative phosphorylation, a downstream effector of the RAS/MAPK pathway, in the the patient and his brother compared with healthy volunteers. The final diagnosis was LZTR1-related familial SWN, and the dysregulated RAS/MAPK pathway in this patient might be associated with brain tumorigenesis.

Case-Reported Data Management Methodology Using an RDF Data Model for Building a Multicenter Clinical Registry.

In multicenter clinical research, case-reported clinical data are managed for each research project. Participating institutions manage the mapping between standardized codes and in-house codes. To use the data extracted from electronic medical records in case report forms, it is necessary to pay attention to the gap in the semantic hierarchy. Managing mapping information between in-house and standardized codes is centralized in Resource Description Framework (RDF) stores. The relationship between standardized and in-house codes is described in RDF and stored in RDF stores. RESTful APIs for accessing RDF stores in SPARQL was developed and verified. The relationship between standardized codes and in-house codes of pharmaceuticals was expressed in RDF triples. As a +result of the operational verification of the implemented APIs, it was confirmed that data management with knowledge bases expressed in RDF graphs is possible. The ability to dynamically modify mapping definitions enables flexible data management and ease of operational restrictions.

Factors Associated with Early and Late Seizure Related to Aneurysmal Subarachnoid Hemorrhage.

Post-stroke epilepsy may occur after aneurysmal subarachnoid hemorrhage (aSAH). Both early and late seizures could cause severe neurocognitive deficits if administration of appropriate antiseizure medication is delayed. Therefore, it is important to elucidate the risk factors for early and late seizures, which could be shared with medical teams to promptly manage seizures. There are aspects of both hemorrhage and ischemia in aSAH, and thus, numerous risk factors are considered for early and late seizures. We examined factors associated with aSAH-related early and late seizures. Among 297 patients who had aSAH and underwent direct or endovascular surgery, 25 had early seizures and 20 had late seizures. Patients who did not experience any seizures in at least 2-years of follow-up (n = 81) were used as the control group. Early seizures were associated with older age and acute severe nonneurological infection, whereas late seizures were associated with intraparenchymal lesion volume >10 mL and shunt placement. In patients with late seizures, consistency was frequently observed between electroencephalogram and the presence of intraparenchymal lesions. The frontopolar electrode on electroencephalogram was highly sensitive to abnormality in early seizures. Early seizures were induced by the patient's systemic factors, which may lower the threshold for cortical excitability. Patients with intraparenchymal lesions who undergo shunt placement should be carefully followed up for late seizures.

The association between antipyretic analgesics use and SARS-CoV-2 antibody titers following the second dose of the BNT162b2 mRNA vaccine: An observational study.

Antipyretic analgesics are used to manage and control symptoms occurring after vaccination, but may hamper immunogenicity or vaccine efficacy. We examined the association between prophylactic or therapeutic use of antipyretic analgesics and SARS-CoV-2 antibody titers for vaccine recipients. Data were obtained from 1,498 staff members of a medical and research institution in Tokyo, Japan, who had received the second dose of the BNT162b2 vaccine. We quantitatively measured anti-SARS-CoV-2 spike protein IgG titers in the participants three months after vaccination. The prophylactic and therapeutic use of antipyretic analgesics was ascertained via a questionnaire. A linear regression model was used to examine the association between antipyretic analgesic use and log-transformed anti-SARS-CoV-2 spike protein IgG titers. Based on model parameters, we estimated geometric mean titers (GMT) and the corresponding 95 % confidence intervals (CI). The results showed that IgG titers in vaccine recipients who used antipyretic analgesics therapeutically was higher than the titers in those who did not (geometric mean ratio [GMR] = 1.26, 95 % CI = 1.17-1.34) with GMTs being 6,147 (95 % CI = 5,833-6,460) and 4,895 (95 % CI = 4,676-5,115) for those who used antipyretic analgesics therapeutically and those who did not, respectively. The association was attenuated, but remained statistically significant after adjusting for symptoms (GMR = 1.14, 95 % CI = 1.06-1.23). We did not find any evidence of significant association in relation to the prophylactic use of antipyretic analgesics (GMR = 0.96, 95 % CI = 0.84-1.10), with GMTs being 5,245 (95 % CI = 4,577-5,913) and 5,452 (95 % CI = 5,258-5,645) for those who used antipyretic analgesics prophylactically and those who did not, respectively. In conclusion, we did not find any evidence of suppression of the humoral response after the second dose of SARS-CoV-2 vaccination by prophylactic or therapeutic use of antipyretic analgesics.

Association between chronic physical conditions and depressive symptoms among hospital workers in a national medical institution designated for COVID-19 in Japan.

OBJECTIVE: This study aimed to investigate the cross-sectional association between the presence of chronic physical conditions and depressive symptoms among hospital workers at a national medical institution designated for COVID-19 treatment in Tokyo, Japan. We also accounted for the combined association of chronic physical conditions and SARS-CoV-2 infection risk at work in relation to depressive symptoms, given that occupational infection risk might put additional psychological burden among those with chronic physical conditions with risk of severe COVID-19 outcome. METHODS: The study sample consisted of 2,440 staff members who participated in a health survey conducted at the national medical institution during period between October 2020 and December 2020. Participants who reported at least one chronic physical condition that were deemed risk factors of severe COVID-19 outcome were regarded as having chronic physical conditions. Depressive symptoms were assessed using the patient health questionnaire-9 (PHQ-9). We performed logistic regression analysis to assess the association between chronic physical conditions and depressive symptoms. RESULTS: Our results showed that the presence of chronic physical conditions was significantly associated with depressive symptoms (odds ratio (OR) = 1.49, 95% confidence interval (CI) = 1.10-2.02). In addition, the prevalence of depressive symptoms was significantly higher among healthcare workers with chronic physical conditions who were at a higher occupational infection risk (OR = 1.81, 95% CI = 1.04-3.16). CONCLUSION: Our findings suggest the importance of providing more assistance to those with chronic physical conditions regarding the prevention and control of mental health issues, particularly among frontline healthcare workers engaging in COVID-19-related work.

Association between eating balanced meals and depressive symptoms in Japanese hospital workers during the COVID-19 pandemic.

AIM: While accumulating evidence suggests a protective role of healthy diet against depression, evidence on this issue is limited among healthcare workers combating COVID-19 pandemic. The aim of this study was to determine the cross-sectional association between frequency of balanced meal consumption and depressive symptoms among Japanese hospital workers during the COVID-19 pandemic. METHODS: Participants were 2,457 workers of the National Center for Global Health and Medicine who responded to a questionnaire survey in October or December 2020. Depressive symptoms were assessed using the patient health questionnaire-9 (PHQ-9). The number of days per week of eating two or more balanced meals was categorized into four from ≤1 day/week to daily. The association between frequency of balanced meal consumption and depressive symptoms was assessed using logistic regression analysis, with adjustment for lifestyle and COVID-19-related factors. RESULTS: The prevalence of depressive symptoms was 14.8%. The odds of depressive symptoms increased with decreasing frequency of balanced meal consumption. The multivariable-adjusted odds ratios (95% confidence intervals) of depressive symptoms were 1.00 (reference), 1.09 (0.75-1.58), 1.62 (1.17-2.24), and 2.21 (1.54-3.17) for balanced meal consumption categories of daily, 4-5 days/week, 2-3 days/week, and ≤1 day/week, respectively (P for trend<0.001). CONCLUSIONS: Our results suggest that infrequent consumption of well-balanced meal is associated with increased depressive symptoms among hospital workers during the COVID-19 pandemic.

Association between engagement in COVID-19-related work and depressive symptoms among hospital workers in a designated COVID-19 hospital in Japan: a cross-sectional study.

OBJECTIVES: To examine whether engagement in COVID-19-related work was associated with an increased prevalence of depressive symptoms among the staff members working in a designated medical institution for COVID-19 in Tokyo, Japan. DESIGN: A cross-sectional study. SETTING: Data were obtained from a health survey conducted in July 2020 among the staff members of a designated medical institution for COVID-19 in Tokyo, Japan. PARTICIPANTS: A total of 1228 hospital workers. EXPOSURE OF INTEREST: Engagement in COVID-19-related work (qualitatively (ie, the risk of SARS-CoV-2 infection at work or affiliation to related departments) as well as quantitatively (ie, working hours)) and job categories. OUTCOME MEASURES: Depressive symptoms. RESULTS: There was no significant association between depressive symptoms and engagement in work with potential exposure to SARS-CoV-2 or affiliation to COVID-19-related departments. However, working for longer hours in March/April, when Japan witnessed a large number of infected cases, was significantly associated with depressive symptoms (≥11 hours/day: prevalence ratio (PR)=1.45, 95% CI=1.06 to 1.99, compared with ≤8 hours/day). Nurses were more likely to exhibit depressive symptoms than did doctors (PR=1.70, 95% CI=1.14 to 2.54). CONCLUSIONS: This study suggests that the risk of SARS-CoV-2 infection at work or having an affiliation to related departments might not be linked with a higher prevalence of depressive symptoms among Japanese hospital workers; contrarily, long working hours appeared to increase the prevalence of depressive symptoms.

Association Between Adherence to Healthy Lifestyles and Depressive Symptoms Among Japanese Hospital Workers During the COVID-19 Pandemic.

The objective of this study was to investigate the association between adherence to healthy lifestyles (as measured by the healthy lifestyle index [HLI]) and depressive symptoms among staff members at a large national medical institution in Tokyo, Japan, during the coronavirus disease 2019 (COVID-19) pandemic. The study sample consisted of 1228 staff members aged between 21 and 73 years who participated in a cross-sectional survey conducted in July 2020. We constructed the HLI by assigning one point to each healthy lifestyle factor: normal body mass index, sufficient physical activity, non-smoking status, non-to-moderate alcohol consumption, and sufficient sleep duration. The multivariate adjusted odds ratios for depressive symptoms were 1.00 (reference), 0.71, 0.66, and 0.56 for participants with HLI scores of 0 to 2, 3, 4, and 5, respectively. The present study suggests the role of healthy lifestyles in mental health among hospital staff working during the pandemic.

Development of Patient State Model to Overview Clinical Registry Database.

By applying the Bayesian network method to the clinical registry database J-DREAMS (Japan Diabetes compREhensive database project based on an Advanced electronic Medical record System), we have developed a reference model that summarizes the exploration of the patient group's state and facilitates a bird's-eye view. This visualization method would help registry researchers to screen the registry database.