Yonago acta medica最新文献

Duplications in chromosomal locus 2q24.3 region that solely involve SCN2A remain less explored. Favorable outcomes have been reported in patients with SCN2A gene duplications in cases of mild epilepsy with onset during the neonatal to infantile period, or in infantile epileptic spasm syndrome. Herein, we report a case of microduplications, including SCN2A gene duplications, wherein developmental/epileptic encephalopathy with spike-wave activation during sleep (D/EE-SWAS) developed. A 3-day-old girl without birth complications exhibited tonic seizures in her right limb with eye deviation to the right. She developed drug-resistant seizures, including atypical absence seizures, at 1 year and 6 months old. Despite achieving seizure freedom at 9 years old, she experienced academic difficulties. D/EE-SWAS was diagnosed based on the long-term electroencephalogram findings. Following a corpus callosotomy at 11 years old, her academic performance and emotional expression improved. Comprehensive genetic analysis at 10 years old revealed a microduplication spanning approximately 300 kb within the 2q24.3 region, which included a segment of the SCN2A gene and an adjacent CSRNP3 gene. In conclusion, we reported a rare case of duplications solely encompassing SCN2A. Corpus callosotomy resolved the D/EE-SWAS.

Background: Prolonged postpartum amenorrhea is a sign of secondary infertility. However, there are no reports on postpartum menstrual resumption delay in Japanese women. We conducted an Adjunct Study of the Japan Environment and Children's Study (JECS) to elucidate the actual state of postpartum menstrual resumption delay in Japan and related factors.

Methods: An Adjunct Study questionnaire was sent to 2,729 mothers who participated in the study of Shinshu Subunit Center in the JECS, and 762 mothers were included in the analysis. The participants were categorized into the normal and delayed groups based on the weeks of postpartum menstrual resumption. To investigate the factors associated with postpartum menstrual resumption delay, a multiple logistic regression analysis was conducted with the weeks of postpartum menstrual resumption as the dependent variable.

Results: The study included 762 women, of which 61 (8.0%) had delayed menstruation, not occurring until 72 weeks postpartum. The multivariate analysis revealed a significant correlation between postpartum menstrual resumption delay and age at delivery, past history of irregular menstruation, history of taking oral contraceptives, breastfeeding at 18 months, and the level of satisfaction with the husband's participation in childcare.

Conclusion: Postpartum menstruation in Japanese women occurred later than before. In addition to previous findings, another factor was the husband's satisfaction with his participation in childcare. We should not only focus on the physical aspects of mothers, but also provide midwifery care that proposes and supports family planning suitable for each family.

Background: Cedrol (CRL) is a sesquiterpene alcohol present in the essential oils of coniferous trees including Cupressus and Juniperus genera. CRL has shown potent anticancer activity by virtue of apoptosis. Red blood cells (RBCs), although devoid of mitochondria and nucleus, can undergo hemolysis and eryptosis which contribute to chemotherapy-induced anemia (CIA). In this work, we explored the hemolytic and eryptotic potential of CRL in human RBCs as a safety assessment of the sesquiterpene as an anticancer agent.

Methods: RBCs from healthy donors were treated with anticancer concentrations of CRL for 24 h at 37°C with varying experimental manipulations. Hemolysis was photometrically assessed by measuring hemoglobin release whereas flow cytometry was employed to detect phosphatidylserine (PS) exposure by annexin-V-FITC, intracellular Ca²⁺ by Fluo4/AM, cell volume by forward scatter (FSC), and oxidative stress by 2',7'-dichlorodihydrofluorescein diacetate (H2DCFDA).

Results: Significant, concentration-responsive hemolysis was noted upon CRL exposure with concomitant K⁺, LDH, and AST leakage. CRL also significantly increased annexin-V-positive cells and Fluo4 fluorescence and reduced FSC. Moreover, the cytotoxicity of CRL was significantly ameliorated in the presence of L-NAME, D4476, and PEG 8,000 but was aggravated by urea and sucrose.

Conclusion: CRL stimulates hemolysis and eryptosis characterized by PS exposure, Ca²⁺ overload, and cell shrinkage. The hemolytic activity of CRL was mediated through nitric oxide synthase and casein kinase 1α. Blocking either enzyme may attenuate the toxicity of CRL to RBCs and prevent undesirable side effects associated with its anticancer applications.

Background: Upper urinary tract urothelial carcinoma (UTUC) is uncommon. In advanced cases, radical nephroureterectomy (RNU) alone is not curative, and recurrence and metastasis are likely to occur. Adjuvant chemotherapy (AC) is an evidence-based treatment. However, the optimal number of AC cycles is not clear. This multicenter study investigated the number of cycles required for the beneficial effects of AC in Japanese patients with UTUC.

Methods: Patients who were diagnosed with UTUC and underwent RNU at our hospital and affiliated hospitals from January 2010 to September 2020 were included in the study. Patients with pathological T3 or higher or lymph node metastasis were observed or given AC, and their responses were compared. The AC regimens included gemcitabine and cisplatin or carboplatin. Patients were also classified into two groups: the observation and two cycles of AC group and the three to four cycles of AC group. The survival curves for recurrence-free survival (RFS) and cancer-specific survival (CSS) were evaluated using Kaplan-Meier analyses.

Results: Of the 133 patients enrolled in the study, 24 received 2 cycles of AC, 37 received 3-4 cycles, and 72 were observed only. The 5-year RFS was 67.1% for the 3-4 cycles of AC group and 41.7% for the observation and two cycles of AC group. The 5-year CSS was 72.2% for the 3-4 cycles of AC group and 35.9% for the observation and two cycles of AC group. RFS and CSS were significantly longer in the 3-4 cycles of AC group compared to the observation and 2 cycles group (P = 0.048 and P = 0.005 respectively).

Conclusion: AC prolonged RFS and CSS in the real-world setting. However, at least three cycles of AC are required to achieve beneficial effects in patients with UTUC.

Background: Patients taking multiple drugs and various health foods often develop acute hepatitis. We hypothesized that the interaction between health foods and drug metabolism was the cause of severe liver injury in these patients. Therefore, we studied changes in the activity of the drug-metabolizing enzyme, cytochrome P450 (CYP), using slimming health food extracts and elucidated the molecular mechanism of liver injury onset through hepatotoxicity evaluation.

Methods: For cytotoxicity testing, health food extract samples were added to HepG2 cells derived from hepatic parenchymal cells and culture medium, and cell viability was calculated 48 h after culture. To evaluate CYP3A4 induction, 3-1-10 cells constructed with a reporter linked to CYP3A4 gene were used, and reporter activity was measured 48 h after culture.

Results: In the chronological order of the slimming health food intake history of the patient, niacinamide and Gymnema sylvestre extracts strongly inhibited HepG2 cell viability. In contrast, dietary supplements A and Coleus forskohlii extract strongly induced CYP3A4 reporter activity.

To confirm CYP3A4 induction in humans, humanized CYP3A/pregnane X receptor (PXR) mice were treated with forskolin. CYP3A4 mRNA expression levels were elevated 3.9 times compared to that of the control group (P < 0.05).

Conclusion: Coleus forskohlii extract showed the strongest transcriptional activation of CYP3A4 gene. In a mouse model of human-type drug metabolism, forskolin induced CYP3A4 transcription. Thus, we concluded that CYP3A4 induction by Coleus forskohlii is one of the causes of crucial hepatocellular injury, which is a type of liver injury caused by the active metabolite of acetaminophen produced by CYP3A4.

We report a 1-year-7-month-old boy with West syndrome who had associated secondary adrenal insufficiency as a side effect of synthetic ACTH therapy. Serial investigation using corticotropin-releasing hormone (CRH) stimulation tests revealed the time course of his hypothalamic-pituitary-adrenal (HPA) axis recovery after the secondary adrenal insufficiency. Three days after completion of the ACTH therapy, the basal cortisol, peak cortisol, and peak ACTH levels were all low. One month after ACTH therapy, the basal cortisol level exceeded the cutoff level for intact adrenocortical function, and the peak ACTH level had improved. Five months after ACTH therapy, the peak cortisol level exceeded the cutoff level for intact adrenocortical function. The secondary adrenal insufficiency after ACTH therapy and the four months' time lag between the recovery timing of the basal and peak cortisol levels on CRH stimulation tests were notable findings. This follow-up data is valuable information for understanding the timeline for the process of recovery of the HPA axis from secondary adrenal insufficiency, that should lead to appropriate protocols for adrenal testing and adrenocorticosteroid replacement for patients who have undergone ACTH therapy. We also reviewed previous studies on secondary adrenal insufficiency after ACTH therapy in terms of incidence rate, onset risk factors, and recovery from it. Based on our own experience and previous reports, we suggest secondary adrenal insufficiency after ACTH therapy as follows: regarding the total synthetic ACTH dose administered, approximately 0.2 mg/kg of ACTH could cause secondary adrenal insufficiency. As for the required period for convalescence from secondary adrenal insufficiency, it would take from two to five months.

Alström syndrome is a form of inherited obesity caused by a single gene abnormality and is inherited as an autosomal recessive trait. It is characterised by a variety of clinical manifestations, including progressive visual and hearing impairment, type 2 diabetes mellitus, dilated cardiomyopathy, and hepatic and renal dysfunction, in addition to obesity. Recent insights underline the pivotal involvement of the disease-associated gene (ALMS1) in cilia formation and function, leading to the classification of its clinical manifestations as a ciliopathy. This review delineates the diverse clinical indicators defining the syndrome and elucidates its pathological underpinnings.

Background: Improving breast cancer screening rates is crucial for early detection. However, factors hindering regular screening among working women remain unclear. This study aimed to clarify screening behavior among working women in Japan and associated discouraging factors.

Methods: Surveys were conducted from April to May 2019 among women aged 40-60 at public offices and companies in Tottori Prefecture. We used two surveys: the "Basic Attributes Questionnaire" and the "Structural Questionnaire on Rejecting Screening." Data analysis involved chi-squared tests, logistic regression analysis, factor analysis, and nonparametric tests.

Results: Completed questionnaires analyzed were 668 out of 825 collected (response rate: 81.0%). Most participants were part-time employees with an average age of 51 years. Over 60% reported undergoing regular screening. Logistic regression analysis identified part-time employment, lack of children, a discouraging workplace atmosphere, and absence of personal connections to breast cancer patients as factors associated with avoiding breast cancer screening. Factor analysis identified five factors and 16 items as reasons for not undergoing regular screening. Women who had no spouse, no children or felt that their workplace was not encouraging breast screening felt difficulty in scheduling screening most strongly.

Conclusion: Individuals who had part-time employment and had no children, did not know a breast cancer patient, or considered that their workplace environment was not supportive were more likely to avoid undergoing regular breast cancer screening. Also, women who did not undergo regular screening experienced difficulty in scheduling. In the future, the challenge lies in disseminating accurate knowledge about breast cancer to foster awareness without excessive anxiety.

This review aimed to clarify the concept of self-management in the context of physical frailty and to provide insights that support the development of interventions to prevent physical frailty. A concept analysis using thirty-three studies was performed, six attributes of the concept "self-management of physical frailty" were identified: {Cooperating with healthcare professionals or familiar persons}, {Investing and managing in resources}, {Acquisition and maintenance of individualized self-management strategies}, {Self-directed process}, {Goal setting and personalized action planning} and {Living with one's own health condition with a positive attitude}. Self-management of physical frailty can be defined as a process in which an individual independently sets goals and action plans, engages in strategies such as exercise and nutritional management, and lives with one's own health condition with a positive attitude by collaborating with healthcare professionals and others, in addition to utilizing resources. To support the process in which an individual independently sets goals and action plans, engages in strategies, self-management support based on learning theories that lead to cognitive, emotional, and behavioral changes is necessary.

Background: Elective cesarean sections (ECSs) for early-term pregnancies at 37 weeks of gestational age (GA) aim to reduce the risk of emergency cesarean sections due to the onset of labor or rupture of membranes. However, resultant increases in neonatal respiratory disorders, including transient tachypnea of the newborn (TTN) have been observed. However, few studies have elucidated the associated risk factors. Consequently, we aimed to determine whether differences existed in the clinical outcomes between neonates delivered via ECS at 37 weeks and those delivered at ≥ 38 weeks of GA.

Methods: A retrospective analysis was conducted on 259 neonates born via ECS at Tottori University Hospital, between January 2013 and December 2019, with birthweights ≥ 2500 g and GAs > 37 weeks. The neonates were categorized into two cohorts: births at 37 and at ≥ 38 weeks of GA (37-week and 38-week cohorts). The principal clinical outcomes included the appearance, pulse, grimace, activity, and respiration (Apgar) scores, need for positive-pressure ventilation, incidence of TTN, and length of hospital stay.

Results: No statistically significant differences were observed in the indications for ECS, sex, or birthweight between the two cohorts. The 37-week cohort exhibited a lower 1-min Apgar score than did the 38-week cohort, with no statistically significant differences between the two cohorts, at 5 min. Statistically significant differences were not observed in the need for positive-pressure ventilation during initial resuscitation or length of hospital stay for patients with TTN between the two cohorts. Notably, the 37-week cohort exhibited a significantly higher incidence of TTN than did the 38-week cohort.

Conclusion: ECSs at 37 weeks of GA exhibited an increased risk of TTN than ECSs at ≥ 38 weeks of GA. Strategic neonatal care and adequate preparation can mitigate this risk without affecting the length of hospital stay.