KEIO JOURNAL OF MEDICINE最新文献

Hereditary breast and ovarian cancer syndrome (HBOC) is a hereditary tumor syndrome caused by mutations in BRCA genes. Advances in genetic testing technologies have enabled surveillance and risk-reducing surgeries for carriers of BRCA mutations, allowing for the early detection and prevention of cancer. However, the research and support infrastructure for addressing the psychological and social impacts of genetic diagnostics remain insufficient, and there is a need for mental and psychological support based on the needs of patients and their families. Here, we provide an overview of mindfulness, a psychotherapy that has been demonstrated to be effective in alleviating psychological distress in cancer patients, and we discuss the prospects for mindfulness therapy in HBOC patients.

In Japan, the rising incidence of hereditary breast and ovarian cancer syndrome (HBOC) follows partial insurance coverage introduced in 2020. Compared with the general population (~11% lifetime risk), individuals with HBOC face a significantly higher lifetime risk of breast cancer (48%-76%), often presenting at younger ages. BRCA1 mutations are linked to triple-negative breast cancer, whereas BRCA2 mutations typically result in luminal-type disease. Key risk management strategies include surveillance and prophylactic surgery. Annual magnetic resonance imaging and mammography are recommended at younger ages than in the general population, despite concerns regarding contrast agents, radiation exposure, and examination-related burdens. Although risk-reducing mastectomy lowers breast cancer risk by over 90%, it remains underutilized because of cosmetic and psychological considerations. Nipple-sparing or skin-sparing mastectomy combined with immediate or delayed reconstruction offers a balance between risk reduction and postoperative outcomes, although safety and procedure details still warrant careful evaluation. Managing the high breast cancer risk associated with HBOC requires ongoing efforts to refine current strategies while minimizing patient burden.

A program of recruiting families with hereditary pancreatic cancer and hereditary breast and ovarian cancer (HBOC) syndrome as high-risk individuals for pancreatic cancer surveillance using magnetic resonance cholangiopancreatography (MRCP) and endoscopic ultrasound (EUS) has proven effective, resulting in the improvement of early detection rates and life expectancy. Given this, recent guidelines recommend pancreatic surveillance for patients with familial pancreatic cancer and pathological variants of ten genes, including BRCA1/2. In April 2021, our hospital established the HBOC Center, which is operated by nine departments, including obstetrics and gynecology, breast surgery, pancreatology, urology, medical genetics, dermatology, psychiatry and neurology, and oncology. Currently, MRCP or EUS is performed once or twice a year in 63 cases with pathogenic variants in 54 families. Although 4 cases (6.3%) revealed pancreatic microcysts or branched intraductal papillary mucinous neoplasms, no sign of pancreatic cancer was detected. Since January 2021, the germline BRCA1/2 test for companion diagnosis of pancreatic cancer has been covered by insurance, improving the accessibility of genetic testing among patients with pancreatic cancer. However, the BRCA1/2 positivity rate remains low at 1.3%, and its indication for use is very limited. The implementation of genetic testing, including BRCA1/2 analysis, is necessary for the prevention and early detection of pancreatic cancer in high-risk families.

The management of hereditary breast and ovarian cancer (HBOC) in Japan has changed drastically with the expansion of indications for poly ADP-ribose polymerase inhibitors, the increase in diagnostic opportunities with the spread of companion diagnoses, and partial insurance coverage of HBOC management. These circumstances require a response that is coordinated across the entire hospital rather than from individual departments. In April 2021, we established the HBOC Center, which is operated by nine departments: Obstetrics and Gynecology, Reproduction, Surgery (breast group, hepato-pancreato-biliary group), Urology, Dermatology, Neuropsychiatry, the Center for Medical Genetics, and the Cancer Center. In addition to discussions of individual cases, our monthly conferences have enabled us to establish indication criteria and appropriate items for surveillance, visualize the examination flow in the hospital, construct a patient database, and provide open lectures to educate the public. The future HBOC management system should not only fulfill the existing requirements for risk-reducing surgery and facility standards but also offer comprehensive and diversified attention based on the needs of patients and their family members.

High-grade serous carcinoma (HGSC), the most aggressive subtype of epithelial ovarian cancer, is strongly associated with hereditary breast and ovarian cancer (HBOC) syndrome and is primarily linked to germline BRCA1/2 pathogenic variants (PVs). The cumulative risks of ovarian cancer by the age of 70 years are 40% and 18% for carriers of BRCA1 and BRCA2 PVs, respectively. Risk-reducing salpingo-oophorectomy (RRSO) is a recommended preventive strategy that reduces the risk of ovarian cancer by more than 80% and may improve overall survival. However, surgical menopause after RRSO poses several challenges, including infertility and hormonal deficiency. Although the use of hormone replacement therapy may alleviate symptoms, it requires careful consideration of breast cancer risk. Emerging strategies, such as prophylactic salpingectomy with delayed oophorectomy, are being investigated to balance cancer prevention and patient quality of life. Further research is required to refine personalized prevention and management approaches for HBOC-associated ovarian cancer.

Hereditary breast and ovarian cancer syndrome (HBOC) is traditionally associated with mutations in the BRCA1 and BRCA2 genes, predominantly impacting breast, ovarian, pancreatic, and prostate cancers. However, recent research suggests that these mutations may also predispose carriers to a broader spectrum of malignancies, including biliary tract, cervical, colorectal, endometrial, esophageal, and gastric cancers. This review presents findings from extensive datasets, including a significant study from a nationwide Japanese biobank that examined cancer risks in 63,828 patients and 37,086 controls. Our review highlights notable associations, such as an increased risk of uterine and cervical cancers in BRCA1 mutation carriers and increased risk of esophageal and gastric cancers in BRCA2 mutation carriers. These emerging associations underscore the necessity of revisiting and potentially expanding current clinical guidelines to incorporate these additional risks. These findings advocate a comprehensive approach to genetic counseling and underscore the importance of tailored cancer surveillance strategies in populations carrying BRCA mutations. This expanded understanding could significantly influence preventive, diagnostic, and therapeutic strategies, promoting personalized approaches to manage and potentially prevent these malignancies in genetically susceptible populations.

Evidence-based practice (EBP) plays a crucial role in improving healthcare quality; however, there is still a lack of insight into EBP education for nursing in Japan. We aimed to evaluate the acceptability and preliminary effects of an online EBP education program on undergraduate nursing students in Japan. A pilot, single-armed, pre- and post-intervention design study using mixed methods was conducted with 11 nursing students. Participants completed an 8-h EBP education program over a 2-day period, which provided introductory knowledge and skills based on the five steps of EBP. The total score of the Student-Evidence-Based Practice Questionnaire showed a trend toward improvement with a medium effect size (P = 0.06, d =0.51). The following subscales displayed improvement with small to medium effect sizes: "frequency of practice" (P = 0.14, d =0.34), "retrieving/reviewing evidence" (P = 0.04, d = 0.59), and "sharing and applying EBP" (P = 0.13, d = 0.36). The focus group interviews revealed an enhanced understanding of EBP, improved skills for reading articles, and highlighted the importance of interactive teaching and access to on-demand learning materials. Our results suggested that the online EBP education program was acceptable and demonstrated preliminary effects in enhancing the skills of undergraduate nursing students in retrieving and reviewing evidence and results in thematic analysis. Further research such as a controlled trial including a more diverse sample with longer follow-up should be conducted to validate our findings and examine the program's long-term effects on clinical practice.

In Japan, many schools include kendo as part of the school physical education program. Farther afield, kendo also serves as a life-long method to improve and retain physical fitness and mental skills for adults of all ages around the world. Therefore, kendo has the potential to be an inexpensive public health modality if proven safe. This study aimed to investigate the 1-year prevalence of kendo-related injuries in Japanese collegiate athletes. The factors associated with kendo injuries were explored in a retrospective observational study using an online survey between June 2022 and August 2023. Athlete characteristics and injury occurrence, location, type, and circumstances were recorded. The survey was completed by 143 athletes (average age 19.9 years) with an average of 12.9 years of experience in kendo. We found that the 1-year prevalence of injuries in Japanese kendo collegiate athletes was 43%. The only factors associated with injury were sex and body mass index (BMI) status. Female athletes were 4.9 time more likely to report an injury than male athletes, whereas athletes with overweight or obese status (BMI ≥ 25) were 3.7 times more likely to report an injury than athletes with underweight or normal BMI status (BMI < 25). Special attention should be given to injury prevention and long-term development in female kendo athletes, especially in strength training.

Previously, we reported that transplantation of regeneration-associated cells (RACs) via the ipsilateral external carotid artery reduced stroke volume in mice with permanent occlusion of the middle cerebral artery (MCA). However, intracarotid arterial transplantation is invasive and requires skill, and severe complications may occur, such as thromboembolism, infection, and decreased cerebral blood flow. This study aimed to investigate the efficacy of intravenous injection of RACs in reducing stroke volume and increasing anti-inflammatory and angiogenic factors in mice with focal cerebral ischemia. Mice with occluded MCAs received intravenous injections of phosphate-buffered saline (PBS) (control), low-dose RACs, or high-dose RACs. The proximal part of the left MCA was occluded to induce permanent focal ischemia. After 3 days, we administered PBS or low-dose (1 × 10⁴/50 µL) or high-dose RACs (1 × 10⁵/50 µL) through the tail vein and assessed the infarct volume on day 7. High-dose RACs significantly decreased infarct volume compared to PBS, whereas low-dose RACs showed no effect. The number of interleukin-10 (IL-10)-positive and vascular endothelial growth factor (VEGF)-positive cells in the peri-infarct area on day 7 was significantly higher in mice treated with low-dose and high-dose RACs than in the PBS control group. Intravenous injection of RACs can reduce ischemic stroke volume; however, a higher dose of RACs is required than the dose used in intraarterial transplantation. By assessing IL-10 and VEGF expression, the study sheds light on the underlying mechanisms of RAC therapy, revealing its potential anti-inflammatory and angiogenic properties in the treatment of cerebral ischemia.

Recent studies have indicated that diabetic ketoacidosis (DKA) can be the primary presenting symptom of pancreatic cancer. This comprehensive review assesses the existing research on the incidence of DKA as an initial symptom of pancreatic cancer, including its clinical characteristics, diagnostic challenges, and implications for treatment and prognosis. A comprehensive search was conducted across four electronic databases (PubMed, Scopus, Web of Science, and Cochrane), complemented by a manual search. The search criteria focused on original case reports of pancreatic cancer patients who presented with DKA. Among the 360 studies reviewed, 9 met the eligibility criteria. Among the cases, pancreatic adenocarcinoma was the most common type, followed by somatostatinoma and cystadenocarcinoma. Diagnostic modalities included computed tomography, ultrasound, biopsy, and endoscopic ultrasound. Elevated tumor markers such as CA19-9 were reported in several cases. Most patients presented with gastrointestinal and neurological symptoms, with high levels of glucose and ketone bodies. This review highlights that DKA can serve as a rare but significant initial presentation of pancreatic cancer. Identifying this association is critical for facilitating early diagnosis, which may improve the otherwise poor prognosis of pancreatic cancer. Our findings suggest that clinicians should maintain a high index of suspicion for pancreatic malignancy in patients presenting with unexplained DKA, particularly those without traditional risk factors or precipitating events. Early imaging and multidisciplinary evaluation are essential in such cases.