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A novel COL3A1 variant was identified in a Japanese case of Ehlers-Danlos syndrome type IV (EDS-IV) with a characteristic "Madonna" face, fragile uterus, and easy bruising in addition to a history of cavernous sinus fistula. We confirmed variable diameters of collagen fibrils in the dermis and decrease in type 3 collagen production from cultured fibroblasts. Genomic DNA sequencing of the COL3A1 region and COL3A1 cDNA sequence expressing in cultured fibroblasts identified that a nucleotide variation at c.951+2T>G on intron 14 leads to skipping of exon 14 in COL3A1 cDNA. The novel variation in the splice site of COL3A1 region g.IVS14+2T>G was not listed in the EDS-IV pathogenic genetic databases including Human Gene Mutation Database, ClinVar, and Leiden Open Variation Database. Using the whole genome sequence database of 8380 Japanese individuals reported by the Tohoku Medical Megabank Organization (ToMMo) cohort study, we also confirmed that COL3A1 g.IVS14+2T>G was not a common single nucleotide variation in the Japanese population, although 13 EDS-related COL3A1 variants were identified in the ToMMo database of 8380 Japanese individuals. These results demonstrated that our case of EDS-IV was a result of the novel variation of COL3A1 g.IVS14+2T>G. These statistical genetics approaches with the combination of the ToMMo database of 8380 Japanese individuals and pathogenic genetic databases are a useful method to confirm the uniqueness of novel variation in Japanese.

This study aimed to investigate the association between illness perception and care-seeking intention in Japanese patients with chronic heart failure (CHF). A cross-sectional study was conducted on 160 CHF outpatients with reference to the framework of the Common-Sense Model. Illness perception was measured using the Brief Illness Perception Questionnaire (B-IPQ). Care-seeking intention was assessed based on the intent to consult medical care at the onset of varying symptoms. Association between illness perception and the care-seeking intention was analyzed by logistic regression analysis after univariate analysis. In the univariate analysis, illness perception was only associated with care-seeking intention at the onset of dyspnea at rest. Treatment control, which means the expected effectiveness of treatment in B-IPQ, was associated with care-seeking intention at the onset of dyspnea at rest ( OR: 1.261, 95% CI [1.025–1.550]). It may be necessary to assess the patients’ perceptions of their treatment and explain its effects.

[Purpose] The purpose of this study was to identify the effect of a support program based on self-regulation. [Methods] Participants: Patients with type-2 diabetes mellitus in rural areas; Research design: Quasi-experimental research. A t-test and Mann-Whitney U test were performed to compare the intervention and control groups before the intervention. For the comparison within the groups before and after the interventions, a t-test and the Wilcoxon signed-rank test were performed. For statistical analysis, the significance level was set to 5%. [Results] The intervention group included 19 participants (age 59.8 ± 6.14) and 10 participants in the control group (age 64.3 ± 3.95). After the program, the scores in knowledge about diabetes (p = 0.001) and sub-items of the diabetes self-management (foot care) (p = 0.048) of the intervention group statistically significantly increased, and the calorie intake decreased (p = 0.080). The intervention group had higher scores in all three sub items of the self-efficacy (positiveness, control, and total score). There were no statistically significant differences in the changes in BMI, HbA1c, and the subscales of self-efficacy between the two groups. However, the scores of these items of the intervention and control groups were 3.3 and 2.9, 2.2 and −0.3, and 5.5 and 2.6, respectively. [Conclusions] The support program based on self-regulation in this study helped the participants to acquire general knowledge of diabetes to assess own medical condition and problems in self-care behavior and practical knowledge to manage diabetes in daily life, and this shows the effectiveness of the program.

Background: With an increasing number of patients who visit emergency outpatient units, a shortage of physicians and nurses in emergency units has become an issue in Japan. Triage nurses who interview patients and their families before medical examinations feel stressed to determine the triage level in a limited time, necessitating the measures to alleviate stressors. Objective: To develop a triage nurse job stressor scale (TNJSS) for Japanese triage nurses in emergency outpatient units and to verify the reliability and validity of this scale. Methods: Anonymous, self-administered questionnaires were sent to nursing directors of 180 emergency and critical care centers randomly selected from 251 centers throughout Japan, requesting to distribute the questionnaire to nurses. Results: Based on the responses obtained from 363 nurses, the construct validity, internal consistency, and criterion-related validity were verified. A factor analysis of 44 items yielded five factors: “Lack of triage ability”, “Busy triage work”, “Patients without understanding of explanations”, “Complaints from patients waiting for treatment”, and “Lack of support to improve triage ability”. Cronbach’s α was 0.93 for the full scale and significant correlations were observed between the nurses’ stressor scores and scores for the Stress Response Scale-18 (r = 0.409; p < 0.01) and for the Nursing Job Stressor Scale (r = 0.410; p < 0.01). Conclusions: The TNJSS with a five-factor structure containing 44 items was determined to be a reliable and valid tool for evaluating Japanese triage nurse job stressors. The findings suggest the necessity to continuously educate and support triage nurses.

AIM: This study aimed to explore the work-related factors related to forgetting to take oral diabetes medication during the working day among Japanese employees with diabetes. METHODS: This worksite-based study was designed to clarify the important work-related factors for preventing the aggravation of diabetes among working-age people and support for coexisting diabetes treatment and work (Ryoritsu Shien). This cross-sectional survey was conducted in 2018. The participants were full-time employees with type 2 diabetes aged over 40 years who took oral diabetes medication during the working day. The participants were classified into forgetting and non-forgetting groups. Their characteristics and work-related factors were evaluated using a self-administered questionnaire and specific health checkup data. RESULTS: Of the 93 employees with diabetes, 22 (23.7%) were classified into the forgetting group. After adjusting for confounding factors, irregular meal times during the working day was positively associated with forgetting to take oral diabetes medication during the working day [multivariable-adjusted odds ratio (OR), 7.08; 95% confidence interval (CI): 1.38–36.32, irregular vs. regular]. Skipping meals during the working day was positively associated with forgetting to take oral diabetes medication during the working day (multivariable-adjusted OR 3.55, 95% CI 1.14–11.09 presence vs. absence). CONCLUSIONS: Our findings suggest that irregular meal times and skipping meals during the working day are important factors related to forgetting to take oral diabetes medication during the working day among Japanese male employees with diabetes.

Patients with chronic obstructive pulmonary disease (COPD) need to maintain proper eating behavior in order to maintain muscle mass and prevent weight loss. In this study, we measured the effects of a support program on patient attitude, social influences, and self-efficacy and aimed to positively change their dietary behavior. We recruited male patients from two Japanese outpatient clinics and assigned each to an intervention or a control group. The intervention group participated in a support program and was assisted in acquiring knowledge and skills related to adopting and maintaining suitable eating behavior. Data were gathered through medical records, patient interviews, self-assessment questionnaires, and anthropometric measurements. The follow-up period was approximately 15 weeks. The final sample comprised 22 participants, with 11 each in the intervention and control groups. In the intervention group, the body weight was maintained. However, there were statistically significant improvements in energy intake and dietary measures such as eating fresh foods, compared with the control group. The intervention was observed to increase both meal suitability and energy intake among participants. Future support programs should also incorporate participants’ physical activity levels, and the effects should be studied over a longer period.

Background Specific species of ceramides (Cer), major constituents of lipids in the stratum corneum (SC), are decreased and are correlated with SC barrier and water-holding functions in the skin of patients with atopic dermatitis (AD) or psoriasis (Pso). However, possible correlations between Cer subclass ratios and skin properties in barrier-disrupted skin and in healthy skin remain unclear. The objective of this study was to identify a new marker to evaluate skin properties and epidermal differentiation in SC not only in barrier-disrupted skin but also in healthy skin. Methods The Cer subclass ratios in the SC of healthy control subjects and in patients with AD or Pso were evaluated. Correlations with candidate markers and facial skin features of healthy Japanese females (20–74 years old, n = 210) were investigated. Variations of markers during epidermal differentiation were studied in human epidermis and in cultured keratinocytes. Results The ratios of Cer [NP]/[NS], Cer [NH]/[NS], Cer [NP]/[AS], Cer [NH]/[NS], Cer [NDS]/[AS], Cer [AH]/[AS] and Cer [EOP]/[AS] showed significant differences between non-lesional skin of AD patients and normal skin of healthy control subjects, as well as Pso patients and their healthy control subjects. The Cer [NP]/[NS] ratio was correlated with SC functional parameters (transepidermal water loss and capacitance) and with skin appearance (texture, scaling and color) even in the cheek skin of healthy female subjects. The Cer [NP]/[NS] ratio in the SC was approximately 18-times higher than in living keratinocytes, and it increased as they differentiated. Conclusions The Cer [NP]/[NS] ratio in the SC is a potential marker for skin properties and epidermal differentiation in barrier-disrupted skin as well as in healthy skin.

Vascular Ehlers-Danlos syndrome (vEDS), a genetic disorder caused by mutations in procollagen type III gene (COL3A1), may lead to fatal vascular complication during peripartum period because of the arterial fragility. We experienced a case of vEDS with peripartum life-threatening arterial rapture diagnosed by next-generation sequencing (NGS) and successfully treated the vascular complications. A 25-year-old female in pregnancy at 34 weeks had sudden and acute pain in the left lower abdomen. After successful delivery, her computed tomography scan showed a dissecting aneurysm of the left common iliac artery (CIA). Four days after delivery, she presented in hemorrhagic shock induced by arterial rupture in the CIA. Since her clinical presentations inferred vEDS even in the absence of familial history, we performed NGS-based genetic screening for inherited connective tissue disorders including vEDS with informed consent. Even though we started intensive medication, her iliac aneurysm was progressively enlarging within 3 weeks. After an urgent molecular diagnosis for vEDS (a splice-site mutation), cautious endovascular therapy for her CIA aneurysm was successfully performed. This is the first report for pretreatment molecular diagnosis of vEDS using NGS in an emergent situation of severe vascular complications.

AIM: In recent years, support for coexisting diabetes treatment and work (Ryoritsu Shien) has become increasingly important for employees with diabetes. It is important to identify factors associated with dropout from outpatient visits for diabetes treatment among employees with diabetes to determine appropriate support to prevent dropout. Therefore, we explored work-related, personal, and diabetes-related factors relevant for dropout from outpatient diabetes treatment visits among Japanese employees with diabetes. METHODS: This cross-sectional study was conducted in 2018. Participants were 140 full-time employees with type 2 diabetes aged over 40 years. Participants were classified into two groups: a dropout group and a continuation group. Work-related, personal, and diabetes-related factors were evaluated using a self-administered questionnaire and specific health checkup data. RESULTS: Of the 140 employees with diabetes, 12 (8.6%) were classified in the dropout group. Multivariable logistic regression analysis revealed three factors associated with a lower risk for dropout from diabetes treatment outpatient visits. These were: high supervisor support, as measured by the Job Content Questionnaire (multivariable-adjusted odds ratio [OR] 0.71, 95% confidence interval [CI] 0.52–0.97, per 1 score); older age (multivariable-adjusted OR 0.79, 95% CI: 0.66–0.95, per 1 year); and presence of metabolic syndrome (multivariable-adjusted OR 0.04, 95% CI 0.01–0.28, presence vs. absence). CONCLUSIONS: Our findings suggest that supervisor support, age, and metabolic syndrome are important factors related to dropout from outpatient diabetes treatment visits among Japanese male employees with diabetes.