Journal of Nippon Medical School
Online ISSN : 1347-3409
Print ISSN : 1345-4676
ISSN-L : 1345-4676
Advance online publication
Showing 1-50 articles out of 65 articles from Advance online publication
  • Eisho Yoshikawa, Daisuke Fujisawa, Kazuho Hisamura, Yoshie Murakami, T ...
    Article ID: JNMS.2022_89-117
    Published: 2021
    [Advance publication] Released: November 26, 2021
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    Depressive symptoms are prevalent in cancer patients and are one of the most distressing symptoms in this population. Although mental health professionals such as psychiatrists and psychologists are now engaged in cancer care, the management of depressive symptoms in cancer patients needs further improvement. Peer support interventions (PSIs) in cancer care have attracted substantial attention and have several advantages over support by medical professionals, potentially improving depressive symptoms in cancer patients. However, there may be some potential risks. Several strategies using PSIs have been developed to improve depressive symptoms and have been evaluated in randomized controlled trials. The strategies include education on stress management skills, promoting emotional support, counseling on specific topics that are difficult to discuss with others, helping patients navigate the use of resources, and promoting health-related behaviors to decrease depressive symptoms. In this paper, we present recent findings on PSIs in cancer, focusing on randomized controlled trials.

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  • Yoshimasa Kanawaku
    Article ID: JNMS.2022_89-119
    Published: 2021
    [Advance publication] Released: November 26, 2021
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    In Japan, deaths in bathtubs or bathtub deaths are frequently investigated as unnatural deaths. About 19,000 bathtub deaths occur annually in Japan. This pattern of death has become a social issue in forensic pathology and emergency medicine and public health. It is assumed that the death of an adult by drowning in a bathtub cannot be avoided due to disturbance of consciousness. The PubMed database was used for literature search using the retrieval words, "bathing "OR" bathtub "AND" submersion "OR" drowning "OR" death "OR" cardiopulmonary arrest". From the epidemiological characteristics and pathophysiological findings of bath mortality in Japan, three etiologies of impaired consciousness have been proposed: acute ischemic heart failure, heatstroke, and blood pressure fluctuation. Moreover, other causes such as epilepsy and alcohol or drug intake cannot be ignored as potential risks for death in a bathtub. It is also important to note the possibility of suicide and, although extremely rare, homicide in a bathtub. Despite research, the exact causal relationship between bathtub bathing and death remains unclear. Further, the cause of death by postmortem investigation is not always easily determined. Hence, it is desirable to carry out a field survey of causes of death, including bathing conditions, and, wherever possible, a complete autopsy survey. An exclusion of critical cases such as crime-related death, suicide, drug poisoning, and carbon monoxide poisoning is optimal. Of the many hypotheses about the causes of bathtub mortality, the most consistent hypothesis will be medically inferred from the death history, case findings, and test results.

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  • Akiko Tonooka, Ryuji Ohashi
    Article ID: JNMS.2022_89-221
    Published: 2021
    [Advance publication] Released: November 26, 2021
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    Among the recent advancements in cancer treatment, the emergence of novel drugs targeting a specific molecule has considerably modulated the therapeutic strategies. Despite the efficacy, the associated renal complications distinct from conventional chemotherapeutic drugs have been reported. Targeted therapy drugs include monoclonal antibodies and small molecule agents. Bevacizumab is one of the monoclonal antibodies that targets vascular endothelial growth factor (VEGF) and blocks tumor angiogenesis. This anti-angiogenic effect causes endothelial injury, resulting in "thrombotic microangiopathy-like lesion" confined to the glomerulus. Segmental hyalinosis of the glomerular tuft is also observed. The small molecular agents, including tyrosine kinase inhibitors (TKIs), such as pazopanib, can cause endothelial injury and podocytopathy through blocking VEGF receptors and their downstream signaling. Minimal change nephrotic syndrome and focal segmental glomerulosclerosis are associated with TKIs-induced renal complications. Immune checkpoint inhibitors (ICIs), such as PD-1, CTLA-4 and PD-L1, are a novel form of immunotherapy against cancer, which modulates immune checkpoints. Owing to its unique function, ICIs cause inflammatory side effects referred to as immune-related adverse events (irAEs). irAEs in the kidney commonly include acute tubulointerstitial nephritis and tubulitis, occasionally accompanied by granuloma formation. The occurrence of vasculitis, thrombotic microangiopathy, and glomerulonephritis is also reported. Renal toxicity associated with other molecular drugs such as protease inhibitors and mammalian target of rapamycin inhibitors has also been documented. In this article, we review the clinico-histopathological aspects of renal complications associated with molecular targeted therapies, focusing on anti-VEGF agents and immune checkpoint inhibitors from the pathologists' viewpoint.

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  • Yoshiharu MOTOO
    Article ID: JNMS.2022_89-222
    Published: 2021
    [Advance publication] Released: November 26, 2021
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    Kampo Medicine is a traditional Japanese medicine that is well-integrated in modern medicine. Anti-cancer agents are highly developed, and evidence of standard treatment has accumulated. Kampo Medicine is needed to support patients with cancer who lose vital energy and feel cold. Cancer chemotherapy is associated with various adverse reactions, such as anorexia, general malaise/fatigue, and peripheral neuropathy, which are refractory to modern therapy. Recently, evidence of Kampo Medicines for these symptoms has been reported as randomized controlled trials (RCTs). The Japan Society for Oriental Medicine celebrated the first 20 years of the activities of evidence-based medicine (EBM) committee in June 2021. Among the activities of the EBM committee, Evidence Reports of Kampo Treatment contains RCTs and meta-analyses, including RCTs on cancer supportive care. There is accumulating evidence for the following Kampo formula for each symptom: Hangeshashinto for mucositis, rikkunshito for anorexia, goshajinkigan and ninjin'yoeito for peripheral neuropathy, hochuekkito for general malaise/fatigue, and shakuyakukanzoto for myalgia/arthralgia. However, there is insufficient evidence, and further clinical trials are needed. Supportive care with Kampo Medicine will lead to a more complete standard treatment for cancer.

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  • Junichi Shindoh
    Article ID: JNMS.2022_89-223
    Published: 2021
    [Advance publication] Released: November 26, 2021
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    With the recent advances in the field of systemic therapy, an increasing number of patients with advanced hepatocellular carcinoma (HCC) are expected to benefit from surgery. However, given the complex background of the disease and frequent presence of underlying liver injury, treatment of advanced HCC is rather complex and the treatment principle applied to colorectal liver metastases, for which conversion surgery has been actively performed, is often not applicable to patients with HCC. To maximize the survival outcomes of patients with HCC, optimization of each step of treatment through a multidisciplinary approach is inevitable. As the initial treatment, systematic removal of the tumor-bearing portal territory is associated with improved survival in patients with solitary HCC, and radiofrequency ablation is also effective for small, oligo HCCs. Although the high incidence of recurrence even after curative-intent treatment is a major issue in HCC, aggressive treatment for recurrence is also important, because a prolonged cancer-free interval is reported to be associated with improved overall survival. For patients with advanced disease, recently introduced molecular-targeted agents may potentially be effective for successful conversion to surgery in initially unresectable cases, although the overall response rate of HCC to systemic therapies remains unsatisfactory as compared to that of colorectal liver metastases. In this report, the theoretical bases for the management of HCC are revisited and the currently used strategies to maximize the survival outcomes in patients with advanced HCC is discussed.

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  • Masae Iwasaki, Masashi Ishikawa, Dai Namizato, Atsuhiro Sakamoto
    Article ID: JNMS.2022_89-304
    Published: 2021
    [Advance publication] Released: November 26, 2021
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    Background: A growing number of older patients are undergoing surgeries. The reliable pre-operative predictive factors of surgical mortality among older patients remained unclear. This study compared the predictive factors for 30-day survival in patients over 90 years old after their non-cardiac surgery.

    Methods: A retrospective study at Nippon Medical School hospital was performed for patients aged >90 years who underwent non-cardiac surgeries between 2010 and 2020. Measurements included age, gender, American Society of Anesthesiologists physical status (ASA-PS), pre-operative Charlson score, pre-operative fall risk assessment, Eastern Cooperative Oncology Group performance status (ECOG-PS), the modified 5-item frailty index (mFI-5), the presence of intra-operative transfusion, post-operative complications, and 30-day survival post-surgery.

    Results: A total of 327 cases of elective surgery and 149 cases of emergency surgery were examined. The non-survival group (n=20, 4.2%) had significantly worse pre-operative ASA-PS in emergency cases (non-survival vs. survivor group, 2.8 [2-3] vs. 2.3 [1-4], p=0.045), ECOG-PS (3.0 [2-4] vs. 1.0 [0-4], p<0.001), and mFI-5 values (3.0 [1-4] vs. 1.0 [0-3], p<0.001), more emergency cases (75.0% vs. 36.2%, p=0.004), and a greater need for intra-operative transfusion (55.0% vs. 13.4%, p<0.001). Among the frailty assessment methods, ECOG-PS was the most efficient for 30-day mortality (area under curve, ECOG-PS: 0.98, p<0.001; mFI-5: 0.86, p<0.001; Charlson score: 0.53, p=0.71; fall risk assessment: 0.55, p=0.44). Kaplan-Maier curves and a multivariate logistic regression analysis demonstrated that ECOG-PS>3 was significantly associated with 30-day mortality (ECOG-PS: Kaplan-Maier curve, p<0.001, Log-rank test; odds ratio 1.71, 95%CI: 1.35-2.16, p<0.001).

    Conclusions: After non-cardiac surgery in patients >90 years old, ECOG-PS>3 was significantly correlated with 30-day mortality.

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  • Yasuko Kuribayashi-Hamada, Mariko Ishibashi, Atsushi Tatsuguchi, Toshi ...
    Article ID: JNMS.2022_89-305
    Published: 2021
    [Advance publication] Released: November 26, 2021
    JOURNAL FREE ACCESS ADVANCE PUBLICATION

    Background: Primary thyroid lymphoma (PTL) is a rare disease frequently arising against a background of autoimmune thyroiditis. It has recently been reported that the inactivation of the NF-κB negative regulator A20 by deletion and/or mutation could be involved in the pathogenesis of subsets of B-cell lymphomas. This study investigated the clinicopathologic characteristics and A20 mutation in PTL.

    Methods: We analyzed the characteristics of 45 PTL patients (14 men and 31 women), with a median age of 71 (range, 35–90) years. A20 mutations were analyzed in DNA extracted from 20 samples consisting of 19 tumor tissues and 1 sample from Hashimoto's thyroiditis.

    Results: Thirty-five patients (82%) had a history of Hashimoto's thyroiditis and 29 (64%) had diffuse large B-cell lymphoma (DLBCL), presenting with larger tumors including bulky mass, elevated soluble interleukin-2 receptor levels, and longer history of Hashimoto's thyroiditis compared with mucosa-associated lymphoid tissue (MALT) lymphoma patients (n=16). A20 mutations were identified in 3 of 19 PTL patients (16%), 2 of 10 (20%) with DLBCL, and 1 of 9 (11%) with MALT lymphoma. Interestingly, all patients with A20 mutations had Hashimoto's thyroiditis. Furthermore, they had a common missense variant in exon 3 (rs2230926 380T>G; F127C), which is known to reduce the ability of A20 to inhibit NF-kB signaling.

    Conclusion: Our study demonstrated that the histological features of PTL affect clinical outcomes, and that A20 mutations could be related to PTL pathogenesis in some patients with Hashimoto's thyroiditis.

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  • Kosuke Otake, Takashi Tagami, Chie Tanaka, Riko Maejima, Takahiro Kana ...
    Article ID: JNMS.2022_89-306
    Published: 2021
    [Advance publication] Released: November 26, 2021
    JOURNAL FREE ACCESS ADVANCE PUBLICATION

    Background

    The epidemiology and treatment of isolated pelvic fracture is not well understood in Japan. This study aimed to evaluate epidemiological trends in isolated pelvic trauma and in-hospital survival rates over 15 years.

    Methods

    This retrospective cohort study analyzed data from the Japan Trauma Data Bank for 2004–2018. Patients of any age with isolated pelvic fracture were grouped according to time period: 2004–2008 (Phase 1), 2009–2013 (Phase 2), and 2014–2018 (Phase 3). The main outcome was 30-day in-hospital survival rate. The data were analyzed using chi-squared, Kruskal-Wallis, and Mantel-Haenszel trend tests. We analyzed changes in the main outcome over time in a multiple logistic regression analysis fitted with a generalized estimating equation, accounting for the within-cluster association.

    Results

    In total, 5348 isolated pelvic fractures occurred during the study period. There was no significant between-phase difference in proportions of patients who underwent resuscitative balloon occlusion of the aorta or external fixation. The proportion of patients who underwent transcatheter arterial embolization increased year by year (p=0.003). There was a significant increase in the survival rate over time (Phase 1, 77%; Phase 2, 86%; and Phase 3, 91%; p<0.001). The 30-day in-hospital mortality rate was significantly lower in Phase 3 than in Phase 1 or Phase 2, even after adjustment for hospital clustering and other confounders (p<0.01).

    Conclusions

    There was an improvement in the 30-day in-hospital survival rate after isolated pelvic fracture over a 15-year period in Japan.

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  • Yoshio Shima, Takehiko Fukami, Tsubasa Takahashi, Takashi Sasaki, Mako ...
    Article ID: JNMS.2022_89-309
    Published: 2021
    [Advance publication] Released: November 26, 2021
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    Background: With the increasing rate of high-risk pregnancies, there is an increased need for early evaluation of at-risk fetuses. Fetal ultrasound imaging has become a pivotal part of this evaluation.

    Methods: To evaluate the role played by a fetal ultrasound clinic in promoting comprehensive perinatal care of patients with high-risk pregnancies, we retrospectively analyzed the indications and findings of fetal scans and the outcomes of the examined fetuses collected over the past 7 years (2014–2020) by our institute, which is reorganized as a perinatal medical center.

    Results: During the study period, we conducted 345 fetal scans in high-risk pregnancy cases. Of these, 158 cases (46%) were referrals from other institutes. Eighty-nine neonates were admitted to our neonatal intensive care unit (NICU) after being evaluated, of which 10 neonates underwent surgery during their NICU stays. Thirty-nine pregnant women were referred to other tertiary care hospitals mainly due to fetal diagnoses with complex cardiac anomalies. Fourteen cases resulted in intrauterine fetal death or artificial abortion.

    Conclusions: Fetal ultrasound clinics have established their role in facilitating sophisticated regional perinatal care via multidisciplinary and inter-facility cooperation for high-risk pregnancy cases. In addition, providing psychological support and counseling for pregnant women whose fetuses are diagnosed with severe congenital anomalies should not be neglected.

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  • Takehisa Yamada, Tetsuya Kashiwagi, Yukinao Sakai
    Article ID: JNMS.2022_89-401
    Published: 2021
    [Advance publication] Released: November 26, 2021
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    Background: Febuxostat is recommended for patients with chronic kidney disease (CKD) associated with hyperuricemia to lower the serum uric acid (sUA) concentration. However, it remains uncertain how this drug affects correlations between several laboratory parameters regarding glomerular filtration and renal tubular reabsorption of uric acid.

    Methods: We enrolled 148 patients with CKD with hyperuricemia. Of them, 122 were treated with febuxostat, and 26 were treated without it. Clinical and laboratory parameters were recorded to calculate the estimated glomerular filtration rate (eGFR), fractional excretion of uric acid (FEUA), and the estimated 24-h urinary excretion of uric acid (eEUA). We retrospectively examined the correlations between those parameters to compare the patients treated with febuxostat to those without it.

    Results: A significant inverse correlation between eGFR and FEUA was demonstrated in both patients treated with febuxostat and those without it. In patients treated with febuxostat, a significant inverse correlation was demonstrated between eGFR and sUA, whereas no significant correlation was demonstrated in those without it. There was a significant positive correlation between FEUA and eEUA in patients treated with febuxostat, whereas no significant correlation was revealed in those without it.

    Conclusions: FEUA increased as eGFR declined in our study population. Febuxostat changed the correlation patterns between the clinical laboratory parameters. An additional administration of uricosuric agents would be helpful for further sUA lowering by increasing both FEUA and eEUA in patients treated with febuxostat.

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  • Natsuki Hashiba, Ryuta Nakae, Daisuke Yasui, Masaaki Inoue, Riko Maeji ...
    Article ID: JNMS.2022_89-601
    Published: 2021
    [Advance publication] Released: November 26, 2021
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    Rupture of a racemose hemangioma causing dilatation and tortuosity of the bronchial artery can result in massive bleeding and respiratory failure. Bronchial artery embolization (BAE) can treat this life-threatening condition, as we show in two cases. The first case was of an 89-year-old female complaining of sudden-onset chest and back pain. Bronchial artery angiography demonstrated a racemose hemangioma with a 2 cm aneurysm. The second case was of a 50-year-old male with hemoptysis and dyspnea, eventually requiring intubation. Bronchial arteriography showed a racemose hemangioma and a bronchial artery-pulmonary arterial fistula. BAE was successfully performed in both cases, with no recurrent hemorrhage. Therapeutic interventions in bronchial artery racemose hemangiomas include lobectomy or segmentectomy, bronchial arterial ligation, and BAE. BAE should be considered as first-line therapy for bleeding racemose hemangiomas of the bronchial artery because of its low risk of adverse effects on respiratory status, minimal invasiveness, and faster patient recovery.

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  • Yoko Kawamoto, Shoko Kure, Hironori Katayama, Kiyoko Kawahara, Kiyoshi ...
    Article ID: JNMS.2022_89-605
    Published: 2021
    [Advance publication] Released: November 26, 2021
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    Introduction: Desmoplastic malignant pleural mesothelioma (DMPM) is a sarcoma type mesothelioma, comprising about 5% of malignant pleural mesotheliomas. Although effusion cytology is commonly used as the primary diagnostic approach for mesothelioma, this may not be useful for DMPM due to its desmoplastic nature and bland cellular atypia. We hereby report a case of DMPM diagnosed through autopsy along with its cytological features that have not been described previously.

    Case Presentation: A male in his 60s with a history of occupational asbestos exposure was referred to our hospital with right chest pain. Chest computed tomography scan showed right pleural effusion. Thirteen months later, the patient died of respiratory failure. In autopsy, the scrape-imprint smear and the pleural effusions cytology were performed. The scrape-imprint smear samples exhibited spindle cells with mild nuclear atypia and grooves with fibrous stroma. In the pleural effusion cytology, spindle cells having mild nuclear atypia and grooves with loose epithelial connections were observed. Histological examination of the right pleura showed spindle cells proliferating with dense collagen fibers, as seen in cytological samples, thus rendering the diagnosis of DMPM. Diagnosis was confirmed by fluorescence in situ hybridization.

    Conclusion: Cytological procedures, such as pleural effusion cytology and scrape-imprinting method, may be useful as an ancillary tool in the diagnosis of rare tumors such as DMPM.

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  • Yuka Kasai, Ryoji Aoki, Nobuhiko Nagano, Hide Kaneda, Tsugumichi Koshi ...
    Article ID: JNMS.2022_89-606
    Published: 2021
    [Advance publication] Released: November 26, 2021
    JOURNAL FREE ACCESS ADVANCE PUBLICATION

    The site of perforation is difficult to identify preoperatively in many cases with spontaneous perforation of congenital biliary dilatation (CBD). We report a case of spontaneous perforation of CBD in which the perforation site was identified preoperatively using thin-slice contrast-enhanced computed tomography (CT). The patient was a girl aged 1 year and 4 months. She was admitted to our hospital because of vomiting and diarrhea that had continued for 3 days prior to admission. Abdominal contrast CT on admission showed dilated common bile duct, thickening of the gall bladder wall, and marked ascites. In addition, an area of low density with a diameter of 1 cm was detected near the neck of the gallbladder. We evaluated the area via thin-slice contrast-enhanced CT and detected a defect in the wall of the bile duct. Cholangiography revealed abnormal confluence of the pancreaticobiliary duct and a protein plug in the common duct. A diagnosis of CBD with perforation of the bile duct was made, and surgery was performed. The intraoperative findings matched that seen on the enhanced CT. There are some reports of pseudocysts and fluid retention around the perforation site; however, no reports are found in which the perforation site was confirmed by preoperative CT. If localized fluid retention is observed in cases with biliary perforation, confirmation with thin-slice contrast-enhanced CT might be useful for identifying the perforation site.

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  • Yuusuke Fujiwara, Sohichi Aizawa, Hisao Ogawa, Atsushi Mamiya, Kenta S ...
    Article ID: JNMS.2022_89-607
    Published: 2021
    [Advance publication] Released: November 26, 2021
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    Schwannoma is an uncommon benign tumor in the oral and maxillofacial region, and development of schwannoma in the lower lip is rare. Herein, we present the case of a 68-year-old woman who visited Nihon University Itabashi Hospital complaining of a painless mass in the lower lip. The lesion was surgically resected under local anesthesia. On histopathological examination, the resected specimen was a mixture of Antoni types A and B schwannoma. No recurrence has been seen over a postoperative follow-up period of 58 months. In the schwannoma of the lower lip, the mean tumor volume was compared for type A and the mixed type, which tended to be larger in the mixed type. No previous reports have described the relationship between the size of schwannoma in the lower lip and Antoni classification. Therefore, this report discusses the possibility of a relationship between tumor size and Antoni classification for schwannomas in the lower lip.

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  • Kohki Takeda, Akihisa Matsuda, Takeshi Yamada, Seiichi Shinji, Ryo Oht ...
    Article ID: JNMS.2022_89-608
    Published: 2021
    [Advance publication] Released: November 26, 2021
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    Kyphosis makes abdominal surgery difficult. Here, we report a case of rectal cancer in a patient with kyphosis on whom laparoscopic surgery was adequately performed owing to preoperative simulation. An 81-year-old woman with rectal cancer was admitted to our department, and laparoscopic surgery was planned. On physical examination, the patient showed severe kyphosis. To adequately perform laparoscopic surgery, a detailed and thorough preoperative simulation was conducted. 1) Simulations of port arrangement and anatomy with 3-D CT, 2) body position simulation, 3) selection of surgical instruments, 4) preoperative discussion with the anesthesiologist were conducted. We planned to insert the first port from the umbilical region for pneumoperitoneum and the camera port from the ventral region under pneumoperitoneum. We planned to insert the ports on the right side of the patient's body from caudal regions, considering the location of the inferior mesenteric artery and the limited degrees and space due to the costal arch and the promontorium. Beach chair position was planned. We used a fan-shaped retractor and a sponge-made retractor to remove the small intestine from the surgical view. We discussed with the anesthesiologist preoperatively, and decided to keep the pneumoperitoneum pressure under 8 mmHg during the operation considering the respiratory function. Lower anterior resection with D2 lymph node dissection was performed without any intraoperative complications, and at 2 years post-surgery, the patient was healthy with no signs of recurrence. Laparoscopic surgery may be a good choice in patients with kyphosis, and we believe that preoperative simulation will result in an uneventful surgery.

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  • Hisako Yamamoto, Yusaku Miyamoto, Naoki Shimizu
    Article ID: JNMS.2022_89-609
    Published: 2021
    [Advance publication] Released: November 26, 2021
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    Acute encephalopathy is a syndrome characterized by an acute onset of disturbance of consciousness. Many acute encephalopathies are caused by viral infections; however, they can also be a result of bacterial infections. Acute focal bacterial nephritis (AFBN) can cause neurological symptoms, such as irritation, unconsciousness, and seizures. In some cases, AFBN-associated acute encephalopathy has also been reported. This report describes the first case of acute encephalopathy without the characteristic findings of MRI-associated AFBN. The patient was a 3-year-old male, who had febrile seizure at the ages of 1 and 2 years. He developed disturbance of consciousness, irritability, excitability, and neck stiffness on the day after admission. There were no abnormal findings on brain MRI; however, a generalized high-voltage slow wave was noted on electroencephalography (EEG). His urinary sediment count was elevated, and Morganella morganii and Enterococcus faecalis were detected in the urinary culture. A diagnosis of acute encephalopathy with urinary tract infection (UTI) was made. Intravenous (IV) antibiotics were administered to treat the UTI, while methylprednisolone pulse therapy and IV immunoglobulin were administered to treat acute encephalopathy. Additionally, AFBN was detected in both kidneys on contrast-enhanced CT. The patient received a second course of methylprednisolone pulse therapy due to the persistent high voltage slow wave noted on the EEG on day 8. Furthermore, contrast-enhanced CT revealed AFBN in both kidneys. The final diagnosis was acute encephalopathy with AFBN; however, we had initially diagnosed febrile seizures associated with UTI. It should be noted that acute encephalopathy is associated with AFBN.

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  • Teruyuki Dohi, Hoyu Cho, Mina Kamegai, Kumi Fukumitsu, Takuya Shimizug ...
    Article ID: JNMS.2022_89-610
    Published: 2021
    [Advance publication] Released: November 26, 2021
    JOURNAL FREE ACCESS ADVANCE PUBLICATION

    Keloids are laterally growing fibroproliferative skin disorders. In severe cases, keloids spread widely, sometimes over joints, thus significantly limiting motor function. Severe keloids also associate with repeated and very painful draining infections. Here, we report the case of a giant keloid that was successfully treated by combination therapy composed of surgery (partial resection followed with local flap transposition) followed by radiotherapy and steroid-plaster therapy. The keloid of the patient started growing at the age of 7 from the BCG injection that she received on her left shoulder in infancy. The keloid grew rapidly and widely after adulthood. Malignant tumor was suspected at another hospital but a biopsy at the age of 45 indicated it was a keloid. Thereafter, the keloid grew from the shoulder onto the chest and back and over the anterior axilla. At 62 years of age, the patient was referred to our hospital. After providing general anesthesia, the keloid was partially resected and the wound was covered with a local flap. Postoperative radiotherapy was performed 1 week later. The residual keloid was treated for 18 months with steroid tape. Eighteen months after surgery, keloid recurrence was not observed. The patient had no pain or movement restriction. She was extremely satisfied with the results and considered the treatment to have improved her quality of life. While a standard strategy for severe keloid remains to be established, combination therapy composed of surgery, postoperative radiotherapy, and steroid-plaster therapy that aims to reduce inflammation and skin tension may be an option.

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  • Norishige Iizawa, Yasushi Oshima, Tatsunori Kataoka, Hiroshi Watanabe, ...
    Article ID: JNMS.2022_89-113
    Published: 2021
    [Advance publication] Released: September 14, 2021
    JOURNAL FREE ACCESS ADVANCE PUBLICATION

    Background: Severe varus osteoarthritic knee has possibility of medial structure contracture. There is no report concerning the relationship between severity of varus deformity and contracture of medial structure. We aimed to reveal a threshold angle that could be corrected in proportion to the width of medial osteophyte removal, and to examine correction differences between larger and smaller than the threshold angle in total knee arthroplasty.

    Methods: This study included 27 varus osteoarthritic knees scheduled for total knee arthroplasty (TKA). Each knee was measured the hip-knee-ankle angles (HKA) using a navigation system, at maximum extension, 30˚ and 60˚ flexion before and after osteophyte removal, with and without external 10 N-m valgus torque loads. Subsequently, resected osteophyte widths were measured. Mean correction angle per 1 mm osteophyte removal was calculated, and the threshold angle was calculated using the receiver operating characteristic curve. HKA differences were compared against larger and smaller deformity than the threshold angle.

    Results: Mean osteophyte width was 7.1±2.20 mm. Osteophyte removal produced a mean 3.1° correction, which equaled a 0.4° correction per 1 mm osteophyte width removal. The varus deformity threshold angle was 9.5°, however, when comparing the groups larger and smaller than the threshold, there were no significant differences in HKA differences between each step and flexion angle.

    Conclusions: The threshold angle for expected correction with medial osteophyte removal was 9.5˚. However, with no differences in correction between those with larger or smaller than this angle, medial structure contracture seemed to be unrelated to severity of deformity.

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  • Azusa Ogita, Shin-ichi Ansai, Hidehisa Saeki
    Article ID: JNMS.2022_89-114
    Published: 2021
    [Advance publication] Released: September 14, 2021
    JOURNAL FREE ACCESS ADVANCE PUBLICATION

    Adult-onset Still's disease (AOSD) is a systemic autoinflammatory disorder accompanied by skin eruption. However, typical skin eruptions, such as evanescent, salmon-pink erythema, are not specific to AOSD and dermatologists often face difficulty in diagnosing AOSD. Interleukin-18 (IL-18) is believed to be the initiating factor of the inflammatory cascade in AOSD and overproduction of IL-18 contributes to the development of systemic autoinflammatory reactions. Therefore, we examined serum IL-18 levels in the active and inactive phase of 6 Japanese patients with AOSD who visited our dermatology clinic over the past 10 years and compared with other markers, including IL-6, ferritin and C-reactive protein.

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  • Tetsuya Shimizu, Masato Yoshioka, Yohei Kaneya, Tomohiro Kanda, Yuto A ...
    Article ID: JNMS.2022_89-115
    Published: 2021
    [Advance publication] Released: September 14, 2021
    JOURNAL FREE ACCESS ADVANCE PUBLICATION

    Simple hepatic cysts are typically saccular, thin-walled masses with fluid-filled epithelial lined cavities that arise from aberrant bile duct cells during embryonic development. With the development of diagnostic modalities such as ultrasonography, computed tomography and magnetic resonance imaging, simple hepatic cysts are seen with relative frequency in daily clinical examination. US is the most useful and noninvasive tool for the diagnosis of simple hepatic cysts, and can generally differentiate simple hepatic cysts from abscesses, hemangiomas and malignancies. Cysts with irregular walls, septations, calcifications or daughter cysts on US should be evaluated with enhanced CT or MRI to differentiate simple hepatic cysts from cystic neoplasms or hydatid cysts.

    Growth and compression of hepatic cysts cause abdominal discomfort, pain, distension and dietary symptoms such as nausea, vomiting, a feeling of fullness and early satiety. Complications of simple hepatic cysts include infection, spontaneous hemorrhage, rupture, and external compression of biliary tree or major vessels.

    Asymptomatic simple hepatic cysts should be observed. Treatment for symptomatic simple hepatic cysts includes percutaneous aspiration, aspiration followed by sclerotherapy, and surgery. The American College of Gastroenterology clinical guidelines recommend laparoscopic fenestration based on its high success rate and low invasiveness. Percutaneous procedures for treatment of simple hepatic cysts are particularly effective for the immediate palliation of patient symptoms; however, they are not generally recommended because of the high rate of recurrence.

    Management of simple hepatic cysts requires correct differentiation from neoplasms and infections, and the selection of a reliable treatment.

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  • Hiroshi Fujisaki
    Article ID: JNMS.2022_89-116
    Published: 2021
    [Advance publication] Released: September 14, 2021
    JOURNAL FREE ACCESS ADVANCE PUBLICATION

    Molecular aspects of living systems are important because it is the most basic aspects of life as exemplified in biochemistry and structural biology. Since molecules move due to interactive forces between atoms, physics plays an important role to understand the dynamic phenomena of living systems. Here we review our multiscale approaches for computationally treating different levels of molecular motions: vibrational dynamics of molecules, conformational change of biomolecules, and cellular dynamics using statistical-mechanics-based models.

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  • Kazufumi Honda
    Article ID: JNMS.2022_89-118
    Published: 2021
    [Advance publication] Released: September 14, 2021
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    Adjuvant chemotherapy has been carried out for patients with cancer who underwent curative resection, but it is basically not needed for patients without micro-metastatic lesions who undergo a perfectly curative surgical operation. The patients who need adjuvant chemotherapy are defined as those whose micro-metastases cannot be detected by imaging modalities in the other sites of the resective areas, despite curative resection for the primary sites. If biomarkers to efficiently evaluate the metastatic potential of each patient could be developed, we may be able to provide personalized adjuvant chemotherapy in the clinical setting. Actinin-4 (ACTN4, gene name ACTN4) is an actin-bundling protein that we identified in 1998 as a novel molecule involved in cancer invasion and metastasis. Protein overexpression of actinin-4 in cancer cells leads to the invasive phenotype, and patients with gene amplification of ACTN4 have a worse prognosis than patients with a normal copy number in some cancers, including pancreas, lung, and salivary gland cancers. In this review, the biological roles of actinin-4 for cancer invasion and metastasis are summarized, and the potential usefulness of actinin-4 as a biomarker for evaluation of metastatic ability is examined.

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  • Yuji Tomori, Mitsuhiko Nanno, Kentaro Sonoki, Tokifumi Majima
    Article ID: JNMS.2022_89-202
    Published: 2021
    [Advance publication] Released: September 14, 2021
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    Background: The purpose of this study is to evaluate the clinical outcomes of the elderly with coronal shear fractures (CSFs) of the distal humerus who had undergone open reduction and internal fixation (ORIF).

    Methods: Between April 2002 and March 2019, eight elderly patients (76.3 ± 5.1 years)with CSFs of the distal humerus were investigated retrospectively. Postoperative complications, the range of motion (ROM) of the elbow joint, and functional elbow scoring (Mayo elbow performance score; MEPS) were assessed.

    Results: The mean follow-up duration was 23.6 ± 13.9 months. CSFs were treated by a buried implantable headless screw or Kirshner wires or bioresorbable screw with/without lateral locking plates. There were no superficial or deep infections, or elbow joint instability. Seven patients obtained fracture healing, but one patient showed non-union. Osteochondritis dissecans was present in one patient. Three patients showed step-off deformity (> 2 mm) of the articular surface. Two patients displayed a collapse of the fractured articular surface. A patient with severe comminution of both the capitellum and the trochlear showed the collapse of the whole articular surface with osteonecrosis of the capitellum and trochlea. Mean the range of motion of the elbow were flexion, 116.3±12.7° and extension, -28.8±14.1°. The mean MEPS was 78.8±10.2 points, representing patients who scored an excellent (n=1), good (n=3), and fair (n=4).

    Conclusion: ORIF yielded satisfactory outcomes for theelderly with noncomminuted CSF of the distal humerus. However, the cases with comminuted articular fragment or complex posterior fractures were still challenging.

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  • Minami Kosuda, Kentaro Watanabe, Masao Koike, Ai Morikawa, Hitoki Sait ...
    Article ID: JNMS.2022_89-205
    Published: 2021
    [Advance publication] Released: September 14, 2021
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    Background: Postprandial syndrome is characterized by hunger, weakness and anxiety neurosis occurring after meals. Although abnormal glucagon response has been suggested, inaccuracies of the conventional glucagon measurement method have prevented from precise analysis. Recently, a more reliable dual-antibody sandwich enzyme-linked immunosorbent assay for glucagon has been developed.

    Methods: We conducted a 75 g oral glucose tolerance test (OGTT) extending to 4 hours in 14 patients with idiopathic postprandial syndrome. In addition to blood glucose and insulin, we have measured glucagon concentrations using the novel method and analyzed retrospectively.

    Results: Median (lower quartile, upper quartile) of age and BMI were 40 years old (30, 49) and 24.9 (23.1, 26.2), respectively. The OGTT revealed that one patient had a diabetic pattern, and two were glucose intolerant. Fasting insulin was 7.6 μU/mL (6.8, 8.8) and reached 73.7 (54.3, 82.6) at 30 min. Insulin remained elevated until 180 min. The fasting glucagon was 21.1 pg/mL (16.1, 33.8), falling at 60 min to a nadir of 6.9 (3.5, 10.3), one-third of the baseline, then remaining suppressed until 180 min. Furthermore, we have found that two types of glucagon dynamics: one is lower fasting glucagon with further suppression and the other is normal or higher fasting glucagon with subsequent big drop.

    Conclusions: These data suggest that glucagon suppression is stronger in patients with idiopathic postprandial syndrome than in normal subjects previously reported. The present data will contribute to further understanding and future research of this syndrome.

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  • Tomohiro Ozeki, Asami Kubota, Yasuo Murai, Akio Morita
    Article ID: JNMS.2022_89-209
    Published: 2021
    [Advance publication] Released: September 14, 2021
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    Background: Hydrocephalus induced by low cerebrospinal fluid (CSF) pressure is extremely rare and sporadically reported. Subarachnoid hemorrhage, head trauma, and spinal drainage were reported to be the causative factors for surgical treatments.

    Case Description: A 33-year-old male with subarachnoid hemorrhage caused by right vertebral artery aneurysm rupture developed a headache. A trapping surgery was performed, and a spinal drain was inserted from the lumbar L4/5 for subarachnoid hemorrhage washout. On postoperative day 3, increase in subdural fluid accumulation at the posterior fossa craniotomy site and narrowing of the cerebellar sulci appeared in addition to mild enlargement of the ventricles. The patient complained of a headache during head elevation. Low-pressure hydrocephalus (LPH) was suspected. The spinal drain was removed, the headache was relieved, and cerebral ventriculomegaly disappeared. The subsequent clinical course was good. The patient was discharged 3 weeks after the surgery.

    Discussion: LPH is a rare disease caused by various factors and is treated by correcting liquorrhea or overdrainage, if any. Otherwise, drainage at a negative CSF pressure is necessary. Its symptoms and image findings are similar to those of intracranial hypertension and normal-pressure hydrocephalus. This paper reports a suspected LPH case caused by spinal drainage following subarachnoid hemorrhage with literature review.

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  • Yutaka Igarashi, Kan Nishimura, Kei Ogawa, Nodoka Miyake, Taiki Mizobu ...
    Article ID: JNMS.2022_89-210
    Published: 2021
    [Advance publication] Released: September 14, 2021
    JOURNAL FREE ACCESS ADVANCE PUBLICATION

    Background: The coronavirus disease (COVID-19) poses an urgent threat to global public health and is characterized by rapid disease progression even in mild cases. In this study, we investigated whether machine learning can be used to predict which patients will have a deteriorated condition and require oxygenation in asymptomatic or mild cases of COVID-19.

    Methods: This single-center, retrospective, observational study included COVID-19 patients admitted to the hospital from February 1, 2020, to May 31, 2020, and who were either asymptomatic or presented with mild symptoms and did not require oxygen support on admission. Data on patient characteristics and vital signs were collected upon admission. We used seven machine learning algorithms, assessed their capability to predict exacerbation, and analyzed important influencing features using the best algorithm.

    Results: In total, 210 patients were included in the study. Among them, 43 (19%) required oxygen therapy. Of all the models, the logistic regression model had the highest accuracy and precision. Logistic regression analysis showed that the model had an accuracy of 0.900, precision of 0.893, and recall of 0.605. The most important parameter for predictive capability was SpO2, followed by age, respiratory rate, and systolic blood pressure.

    Conclusion: In this study, we developed a machine learning model that can be used as a triage tool by clinicians to detect high-risk patients and disease progression earlier. Prospective validation studies are needed to verify the application of the tool in clinical practice.

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  • Jitsuo Usuda, Tatsuya Inoue, Takumi Sonokawa, Mitsuo Matsumoto, Yutaka ...
    Article ID: JNMS.2022_89-211
    Published: 2021
    [Advance publication] Released: September 14, 2021
    JOURNAL FREE ACCESS ADVANCE PUBLICATION

    Background:

    The da Vinci Si version of robot lacks a vascular stapler that can be controlled by the operating surgeon at the surgical console for dividing the pulmonary vessels. Therefore, in order to initiate and safely perform robotic anatomical lobectomy for lung cancer, it is important to develop a safe method for introducing the surgical stapler.

    Method:

    We performed a retrospective study of the first 42 consecutive patients who underwent robotic lobectomy for lung cancer at Nippon Medical School Hospital between January 2019 and December 2020.

    Results:

    Up to case 18, we performed Robot-assisted thoracoscopic surgery (RATS) lobectomy using the four-arm approach with two assistant ports. For dividing the pulmonary vessels, the surgical stapler was introduced through the assist ports. However, since this is not the port position usually used in video-assisted thoracoscopic surgery (VATS), there were many difficult situations.

    From case 19 onwards of RATS lobectomy, we began to use a total port approach using three robotic arms and two assistant ports. For resecting the pulmonary vessels or bronchi with endoscopic staplers, the port for the robotic arm was removed and the endoscopic staplers were placed through a 12-mm Xcel bladeless port. This change resulted in a shorter operation time, less blood loss, and less robotic arm interference. There has been no case that developed intraoperative complications during RATS lobectomy.

    Conclusion:

    The new total port approach, with three robotic arms, for introducing surgical staplers during RATS using the da Vinci Si robotic system appears to be feasible.

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  • Tetsuro Kawagoe, Go Ikeda, Yu Oshiro, Keiko Kaneko, Katsuhiko Iwakiri
    Article ID: JNMS.2022_89-212
    Published: 2021
    [Advance publication] Released: September 14, 2021
    JOURNAL FREE ACCESS ADVANCE PUBLICATION

    Background: We aimed to classify metastatic pyloric/antral gastric cancer in terms of macroscopic morphology and metastatic form.

    Methods: Thirty-eight patients with pyloric/antral gastric cancer were included in the study. Patients were classified according to a combination of Borrmann classification type and metastatic type, and the clinicopathological characteristics of each group were compared.

    Result: Of the 38 patients, 33 (type II: 9 and type III: 24) (87%) had ulcerative gastric cancer. Ulcerative gastric cancer was classified into four groups: lymphatic only group (L+H-P-), lymphatic + hematogenous group (L+H+P-), disseminated ± lymphatic group (L±H-P+), and lymphatic + hematogenous + disseminated group (L+H+P+). In the L+H-P- group, all patients had bulky lymph nodes and serum levels of both carcinoembryonic antigen (CEA) and carbohydrate antigen 19-9 (CA19-9) were high; the condition of patients was good, and the therapeutic response was good. In the L+H+P- group, metastases other than liver metastases were rare, and serum CEA levels were high. In the L±H-P+ group, the predominant histological type was signet ring cell carcinoma; both serum CEA and CA19-9 levels were low. Patients in the L+H+P+ group had higher serum CA19-9 levels and were more prone to hematogenous metastasis to various organs; these patients had worse patient status and lower treatment response. Gastric cancer other than ulcerative type was only detected in five patients (type V: 3, type IV: 1, type I: 1).

    Conclusion: Classification by a combination of macroscopic and metastatic form in pyloric/antral metastatic gastric cancer might be useful for diagnosis and treatment.

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  • Shizuka Okazaki, Yoko Funasaka, Hidehisa Saeki
    Article ID: JNMS.2022_89-213
    Published: 2021
    [Advance publication] Released: September 14, 2021
    JOURNAL FREE ACCESS ADVANCE PUBLICATION

    Background: We previously reported that pre-irradiation with infrared radiation A (IRA) eliminated ultraviolet B (UVB) -induced cyclobutane pyrimidine dimers (CPDs). Accelerated elimination of CPDs could have resulted from enhanced DNA repair and/or enhanced induction of apoptosis. In this study, we examined whether IRA accelerated the elimination of CPDs by enhancing DNA repair, using Xpa knockout (KO) mice, which were deficient in DNA repair.

    Methods: We have already generated mice harboring epidermal melanocytes that produce only eumelanin and dominant pheomelanin, and no melanin. To obtain such mice but with impaired DNA repair ability, we backcrossed these mice with Xpa KO mice. Three hours before UVB irradiation, the mice were irradiated with IRA, and CPDs and apoptotic cells were examined.

    Results: Pre-irradiation of Xpa KO mice with IRA before UVB irradiation could accelerate the removal of CPDs and enhance apoptotic changes.

    Conclusion: These results indicate that the enhancement of UVB-induced apoptosis and acceleration of removal of CPDs by pre-irradiation with IRA does not depend on DNA damage repair.

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  • Hanako Tajima, Juri Ogawa, Izuru Nose, Ruby Pawankar, Miho Maeda, Mori ...
    Article ID: JNMS.2022_89-214
    Published: 2021
    [Advance publication] Released: September 14, 2021
    JOURNAL FREE ACCESS ADVANCE PUBLICATION

    Background: The precise timing as to when caregivers should take their children to the hospital is crucial to ensure the health and safety of children. As children cannot make these decisions on their own, caregivers bear the core responsibility for the wellness of their children. The aim of this study was to determine how disease, disabilities and child behavior can influence when and how often caregivers take their children to the hospital.

    Methods: A structured anonymous online survey was circulated to pediatricians in Japan. Pediatricians were queried about the patients' dispositions including their reactivity to pain, expression of pain, behavior at the hospital, and the timing of the visit. Patients were school-aged children and included those with autism spectrum disorder, attention-deficit hyperactivity disorder, Down syndrome, mental retardation, epilepsy, premature birth or allergies.

    Results: Sixty-eight out of the 80 pediatricians responded to the survey (85% response rate). The results indicated that caregivers of the children with autism spectrum disorder, attention-deficit hyperactivity disorder and mental retardation took them to the hospital later than they should have essentially done. Conversely, children born prematurely or those with allergies were taken to the hospitals even when the symptoms were mild.

    Conclusions: Caregivers make decisions on when to visit the hospital based on the child's expression of pain and their behavior. The creation of guidelines to give appropriate guidance to caregivers as to when to visit the hospital is essential.

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  • Taeko Saito, Takehisa Yamada, Yasushi Miyauchi, Naoya Emoto, Fumitaka ...
    Article ID: JNMS.2022_89-215
    Published: 2021
    [Advance publication] Released: September 14, 2021
    JOURNAL FREE ACCESS ADVANCE PUBLICATION

    Background: The number of people diagnosed with dementia worldwide is set to increase significantly. While patients with dementia often have comorbidities, particularly diabetes, patients with type 2 diabetes mellitus (T2DM) have a high risk of cognitive decline. This study aimed to determine whether older people with T2DM exhibit specificity in cognitive function.

    Methods: The Montreal Cognitive Assessment (MoCA) is a well-known tool for examining mild cognitive impairment. The modified Japanese version (MoCA-J) has been confirmed as effective. We conducted an investigative survey to assess the cognitive function of Japanese individuals aged ≥75 years with and without T2DM, using the MoCA-J, and analyzed the results.

    Results: Thirty-three patients with T2DM and 23 non-DM patients completed the examination. Between both groups, a significant difference in the MoCA-J total scores was found. (T2DM mean, 21.4 ± 3.5; non-DM mean, 23.5 ± 3.6). Only 9% of patients with T2DM and 39% of those with non-DM showed scores ≥26, which is the cutoff point for mild cognitive impairment, whereas all patients had the ability of self-care. Additionally, older patients with T2DM had significantly lower delayed recall scores than the non-DM group.

    Conclusions: Patients aged ≥75 years with T2DM might have lower cognition than those without T2DM; the inability to perform delayed recall in T2DM patients might denote a cognitive function decline.

    Therefore, compared with other patients, patients aged ≥75 years with T2DM need to receive individually tailored explanations about their care, based on their cognition.

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  • Katsunaka Mikami, Fumiaki Akama, Keitaro Kimoto, Hideki Okazawa, Yasus ...
    Article ID: JNMS.2022_89-216
    Published: 2021
    [Advance publication] Released: September 14, 2021
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    Background: Although some studies have described the association between serum ferritin levels and specific disorders in child and adolescent psychiatry, few have focused on mental health with low serum ferritin levels in children and adolescents. This study examined the effects of iron administration on psychological state of children and adolescents with reduced serum ferritin concentration.

    Methods: This prospective study evaluated 19 participants aged 6–15 years with serum ferritin levels <30 ng/mL who visited a mental health clinic and received oral iron administration for 12 weeks. The participants were assessed using the Clinical Global Impression Severity (CGI-S), Profile of Mood States 2nd Edition Youth-Short (POMS), Center for Epidemiologic Studies Depression Scale (CES-D), and Pittsburgh Sleep Quality Index (PSQI). In addition to serum ferritin, blood biochemical values such as hemoglobin (Hb) and mean corpuscular volume (MCV) were examined. School attendance was recorded.

    Results: The most prevalent physical symptoms were fatigability and insomnia. The CGI-S, PSQI, and CES-D scores decreased significantly following iron supplementation, whereas the scores of almost all POMS subscales improved significantly at week 12. No participant had hemoglobin levels <12 g/dL. Serum ferritin concentration increased significantly, whereas Hb and MCV remained unchanged. At baseline, 74% of the participants did not attend school regularly; this number improved to varying degrees by week 12.

    Discussion: Serum ferritin levels would be preferable to be measured in children and adolescents with insomnia and/or fatigability regardless of psychiatric diagnoses or gender. Iron supplementation can improve the hypoferritinemia-related psychological symptoms of children and adolescents, such as poor concentration, anxiety, depression, low energy and/or irritability.

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  • Kei Ishimaru, Satoshi Akita, Shunji Matsuda, Shungo Yukumi, Masamitsu ...
    Article ID: JNMS.2022_89-217
    Published: 2021
    [Advance publication] Released: September 14, 2021
    JOURNAL FREE ACCESS ADVANCE PUBLICATION

    Background: Recently, aging in patients with severe motor and intellectual disabilities (SMID) has been causing serious problems. There have been few reports about treatment for tumors in patients with SMID.

    Methods: The treatments performed for tumors of 12 SMID patients were examined. Results: Blood tests and ultrasonography were useful in screening. With regard to treatment, the surgery for SMID patients was performed in the same manner as in healthy cases, and the results were generally satisfactory, without major complications. Typically, the patients were diagnosed in advanced stages; many metachronous double cancers were observed. Conclusions: We reported a tumor therapy to the patients with SMID. Our therapy provides satisfactory results for patients with SMID and their families. Further studies are required to clarify the clinical significance of the screening test and the tumor operative method for the patients with SMID.

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  • Kentaro Maejima, Nobuhiko Taniai, Hiroshi Yoshida
    Article ID: JNMS.2022_89-218
    Published: 2021
    [Advance publication] Released: September 14, 2021
    JOURNAL FREE ACCESS ADVANCE PUBLICATION

    Background: A recent increase in the number of surgeries performed on obese patents has raised several issues. In this study, we examined the effects of obesity on laparoscopic and open distal gastrectomy.

    Methods: A totalof 262 patients with gastric cancer (cStageI) who underwent distal gastrectomy were classified into open distal gastrectomy (ODG) (145 patients) and laparoscopic distal gastrectomy (LDG) (117 patients) groups. According to their body mass index (BMI), they were subdivided into obese (BMI ≥ 25) and non-obese patients (BMI < 25) to examine the duration of surgery, blood loss, the number of lymph node dissections, postoperative hospital stay, and incidence of postoperative complications.

    Results: The duration of surgery was longer and blood loss was higher for obese patients than for non-obese patients in both groups. The results for these two endpoints were significantly reduced in the LDG group than in the ODG group both in obese and non-obese patients. Furthermore, the number of lymph nodes dissected tended to be higher in the LDG group than in the ODG group in obese patients. Postoperative hospital stay was not significantly different between obese and non-obese patients in both groups, but was significantly shorter in the LDG group than in the ODG group regardless of the body weight. The incidence of postoperative complications was significantly higher in obese patients than in non-obese patients, although the difference between the groups was not significant.

    Conclusions: These findings indicate that LDG may be useful for obese patients with cStageI gastric cancer.

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  • Yuka Toyama, Yasutomo Suzuki, Satoko Nakayama, Yuki Endo, Yukihiro Kon ...
    Article ID: JNMS.2022_89-219
    Published: 2021
    [Advance publication] Released: September 14, 2021
    JOURNAL FREE ACCESS ADVANCE PUBLICATION

    Background: Laparoscopic sacrocolpopexy (LSC) is an increasingly popular treatment for pelvic organ prolapse (POP) because of its low recurrence rate and safety. Although LSC may improve the voiding function, it may also lead to de novo stress urinary incontinence. The detailed impact of LSC on voiding function and its mechanism remain unclear. Therefore, in this study, we evaluated the impact of LSC on voiding function prospectively by performing a pre- and post-operative urodynamic study in patients with stage 3 or greater POP.

    Methods: Urinary status was evaluated before and 3 months after LSC. Pre- and post-operative evaluations included medical history, clinical examination, urodynamic studies, chain cystography, and residual urine volume measurement. Urinary symptoms were assessed using the International Prostate Symptom Score (IPSS) and the Overactive Bladder Symptom Score (OABSS).

    Results: The non-recurrence rate at 3 months was 82.3%. All recurrences involved bladder prolapse. Apart from the fact that there was no significant change in the OABSS, the improvement in IPSS suggests that subjective voiding symptoms have improved. Although the maximum urinary flow rate did not change significantly, the bladder volume at first sensation increased, urinary storage function improved, and residual urine volume decreased. There were no perioperative complications, and none of the patients complained of post-operative difficulty in urination or urinary retention. The retrovesical angle significantly decreased.

    Conclusions: The modified LSC in women with POP provides good functional outcomes in terms of IPSS, post void residual volume (PVR), and urinary storage function.

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  • Yu Fujii, Toshihiro Ogiwara, Gen Watanabe, Yoshiki Hanaoka, Tetsuya Go ...
    Article ID: JNMS.2022_89-301
    Published: 2021
    [Advance publication] Released: September 14, 2021
    JOURNAL FREE ACCESS ADVANCE PUBLICATION

    BACKGROUND

    Intraoperative magnetic resonance imaging (MRI) is useful for identifying residual tumors during surgery. It can improve the resection rate; however, complications related to prolonged operating time may be increased. We assessed the advantages and disadvantages of using low-field intraoperative MRI and compared them with non-use of iMRI during glioma surgery.

    METHODS

    The study included 22 consecutive patients who underwent total tumor resection at Shinshu University Hospital between September 2017 and October 2020. Patients were divided into two groups (before and after introducing 0.4-T low-field open intraoperative MRI at the hospital). Patient demographics, gross total resection (GTR) rate, postoperative neurological deficits, need for reoperation, and operating time were compared between the groups.

    RESULTS

    No significant differences were observed in patient demographics. While GTR of the tumor was achieved in 8/11 cases (73%) with intraoperative MRI, 2/11 cases (18%) of the control group achieved GTR (p=0.033). Seven patients had transient neurological deficits: 3 in the intraoperative MRI group and 4 in the control group, without significant differences between groups. There was no unintended reoperation in the intraoperative MRI group, except for one case in the control group. Mean operating time (465.8 vs. 483.6 minutes for the intraoperative MRI and control groups, respectively) did not differ.

    CONCLUSIONS

    Low-field intraoperative MRI improves the GTR rate and reduces unintentional reoperation incidence compared to the conventional technique. Our findings showed no operating time prolongation in the MRI group despite intraoperative imaging, which considered that intraoperative MRI helped reduce decision-making time and procedural hesitation during surgery.

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  • Ryuta Nagaoka, Iwao Sugitani, Hiroko Kazusaka, Mami Matsui, Masaomi Se ...
    Article ID: JNMS.2022_89-302
    Published: 2021
    [Advance publication] Released: September 14, 2021
    JOURNAL FREE ACCESS ADVANCE PUBLICATION

    Background: Endoscopic thyroidectomy offers excellent cosmetic outcomes, but requires a period of time for surgeons to become proficient. We examined the learning curve for the first 100 cases experienced by a single surgeon using a video-assisted neck surgery (VANS) subclavian approach.

    Methods: We retrospectively studied 100 patients (99 women, 1 man; mean age, 36.2 years) with both benign and malignant thyroid diseases treated between 2016 and 2020.

    Results: Preoperative diagnosis was papillary thyroid carcinoma (PTC) in 36 cases and other (non-PTC) in 64 cases. All patients underwent lobectomy, with unilateral central node dissection added for patients with PTC. Mean operative time was 125 min for non-PTC cases and 129 min for PTC cases (p = 0.43), with blood loss of 33.8 ml and 7.6 ml, respectively (p = 0.01). Recurrent laryngeal nerve paralysis (RNP) was observed in 12 patients (12%) and hemorrhage in 2 patients (2%). Comparing the first 30 cases with the last 70 cases, no significant differences in operative time or blood loss were evident, although tumor size of non-PTC cases was significantly greater among later cases (32.4 mm vs. 39.5 mm, p = 0.039). RNP was significantly decreased in later cases (26.7% vs. 5.7%, p = 0.003). Multivariate analysis revealed tumor size as a significant risk factor for increased blood loss, and increased experience correlated significantly with the decrease in RNP.

    Conclusions: In VANS, a certain surgical level was reached after experiencing 30 cases.

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  • Naoko Shimoda, Mariko Ikeda, Tomohiro Yan, Sayuri Kawasaki, Akio Hiram ...
    Article ID: JNMS.2022_89-303
    Published: 2021
    [Advance publication] Released: September 14, 2021
    JOURNAL FREE ACCESS ADVANCE PUBLICATION

    Background: Tolvaptan is the first effective drug treatment for autosomal dominant polycystic kidney disease (ADPKD) patients, but few long-term observations of the effects of tolvaptan have been reported.

    Methods: In this single center, retrospective cohort study, we investigated nine patients who participated in a phase 3 trial of tolvaptan for ADPKD patients at our hospital between 2008 and 2014. Six of the patients discontinued tolvaptan at the end of the clinical trial and were defined as the discontinuation group, and three continued to take it; these were defined as the continuation group. The observation period was 3 years before and after the end of the tolvaptan trial, and we compared the following data in each group: serum creatinine, estimated glomerular filtration rate (eGFR), total kidney volume, serum sodium concentration, and urine specific gravity.

    Results: eGFR was significantly improved after the end of the trial in the continuation group (P = 0.0446), but there was no significant change in the regression line before and after the end of the trial in the discontinuation group. The increases in mean total kidney volume rates over the 3 years before and after the trial were 0.01 %/year vs. 0.067 %/year in the discontinuation group (P = 0.0247). On the other hand, serum sodium concentration and urine specific gravity showed no change during the observation period.

    Conclusion: This study suggested that long-term administration of tolvaptan may improve renal function and inhibit total kidney volume growth.

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  • Katsuyoshi Ankoh, Seiichi Shinji, Takeshi Yamada, Akihisa Matsuda, Ryo ...
    Article ID: JNMS.2022_89-501
    Published: 2021
    [Advance publication] Released: September 14, 2021
    JOURNAL FREE ACCESS ADVANCE PUBLICATION

    Small intestinal metastasis from lung cancer is a relatively rare occurrence, and often causes intestinal obstruction, gastrointestinal perforation, and/or gastrointestinal bleeding making it is an oncological emergency. Many patients have been reported to undergo emergency surgery owing to the rapid progression of the intestinal metastatic lesion; however, information regarding the changes that occur in such metastases over time remains lacking. Therefore, we analyzed 4 patients who had small intestinal metastases arising from lung cancer, who were treated during a 10-year period (January 2011 to December 2020), and whose tumor diameter changes were recorded. The average tumor volume growth rate was 1.48 (1.31–1.78) -fold, and the median observation period was 22 (4–39) days, showing a rapid increase. Histopathologically, in patients with a high degree of primary tumor atypia, rapid tumor growth caused by intratumoral hemorrhage may occur. This was considered to be one of the factors responsible for the rapid increase in tumor volume.

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  • Hiroki Katayama, Hidehisa Saeki, Shin-Ichi Osada
    Article ID: JNMS.2022_89-503
    Published: 2021
    [Advance publication] Released: September 14, 2021
    JOURNAL FREE ACCESS ADVANCE PUBLICATION

    Apalutamide, an oral androgen receptor signaling inhibitor, is approved for the treatment of non-metastatic castration-resistant prostate cancer and metastatic prostate cancer. In the international randomized placebo-controlled clinical trials, apalutamide was associated with a higher rate of rash than placebo. However, given that reports from a dermatological perspective are limited, the skin manifestations and histopathology of the skin lesions caused by apalutamide are largely unknown. Here, we report a case of apalutamide-induced drug eruption. A 66-year-old man developed itchy maculopapular erythema on the trunk and extremities 10 weeks after starting apalutamide for progressive prostate cancer. A biopsy specimen showed interface dermatitis with perivascular lymphocytic infiltration in the upper dermis. The lymphocyte transformation test was positive for apalutamide. The skin manifestations improved after discontinuation of apalutamide and treatment with topical corticosteroids and systemic prednisolone. A review of the dermatology literature on apalutamide-induced drug eruption yielded only six cases, including our case. Dermatologically, there were four cases of maculopapular rash and two of toxic epidermal necrolysis and histopathologically, there were three cases of interface dermatitis, two of epidermal necrosis, and one of spongiotic dermatitis. Four patients had peripheral eosinophilia. A lymphocyte transformation test was performed in three cases and was positive for apalutamide in all cases. Except for the two cases of toxic epidermal necrolysis, which were fatal, the skin eruptions appeared 10 weeks after starting apalutamide. Considering the increasing number of patients with prostate cancer being treated with apalutamide, cases of apalutamide-induced drug eruption need to be accumulated and analyzed.

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  • Yutaka Igarashi, Shimpei Ikeda, Kunio Hirai, Naoki Tominaga, Taiki Miz ...
    Article ID: JNMS.2022_89-504
    Published: 2021
    [Advance publication] Released: September 14, 2021
    JOURNAL FREE ACCESS ADVANCE PUBLICATION

    Background: Many invasive procedures are performed in the emergency room (ER), which have potential risks and complications. Due to limitations, especially with respect to size, portable X-ray devices are generally not used during such procedures. However, they have been miniaturized, enabling physicians to capture X-ray images by themselves..

    Methods: We developed a safe, compact, and lightweight X-ray unit and performed five invasive procedures in the ER. In all the procedures, a chest X-ray image was taken to confirm its utility.

    Results: Case 1 (central venous catheter placement): After needle and guidewire insertion and the placement of the catheter, the location of catheter could be confirmed. Case 2 (chest tube insertion): During the insertion of the chest tube into the pleural space, it was observed that the tip of the thoracic tube was at the appropriate location. Case 3 (percutaneous tracheostomy or cricothyroidotomy): After needle and guidewire insertion, it was visualized that the guidewire was in the right main bronchus and that the tube was inserted into the trachea. Case 4 (resuscitative endovascular aortic balloon of the aorta): The captured image revealed that the catheter was located in zone I before balloon inflation. Case 5 (Sengstaken–Blakemore tube): The image revealed that the balloon was located in the stomach.

    Conclusions: The devised portable X-ray unit could contribute medical safety during invasive procedures frequently performed in the ER.

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  • Taro Komachi, Hideto Saigusa, Osamu Kadosono, Hiroyuki Ito, Satoshi Ya ...
    Article ID: JNMS.2022_89-505
    Published: 2021
    [Advance publication] Released: September 14, 2021
    JOURNAL FREE ACCESS ADVANCE PUBLICATION

    Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is a disease in which peripheral sensory and motor nerves of the four limbs are impaired due to autoimmune mechanism-induced demyelinating changes through a 2-month or longer chronic course. The incidence of complication by cranial neuropathy has been reported to be 15%, but there have been very few reports on disorder of the vagus nerve and its branch, the recurrent nerve. We report a patient who developed left recurrent nerve palsy with CIDP. The patient was a 48-year-old male. The disease developed as progressive muscle weakness and numbness of the four limbs 3 years before and was diagnosed as CIDP. The symptoms had been improved by high-dose intravenous gamma-globulin therapy. However, from 2 months before he became aware of breathy hoarseness, and bilateral decreased grip strength and sensory disturbance of the upper and lower limbs recurred and progressed. On laryngoscopy disorder of left vocal fold movement and glottal closure incompetence during phonation were observed, and neurogenic changes were detected in the left thyroarytenoid muscle by needle electromyography for the intrinsic laryngeal muscles. High-dose intravenous gamma-globulin therapy was performed and left vocal fold movement recovered with recovery of bilateral grip strength and sensory disturbance of the upper and lower limbs, and phonation was also normalized.

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  • Yuji Tomori, Norio Motoda, Ryu Tsunoda, Ryuji Ohashi, Yasuyuki Kitagaw ...
    Article ID: JNMS.2022_89-602
    Published: 2021
    [Advance publication] Released: September 14, 2021
    JOURNAL FREE ACCESS ADVANCE PUBLICATION

    We present a case of solitary chondrosarcoma arising from the proximal phalanx of the ring finger in an elderly man. The chondrosarcoma developed over a period of 14 years, during which the phalanx became progressively more deformed. Several radiographic investigations were carried out, but the patient declined further suggested diagnostic examinations (computed tomography, magnetic resonance imaging, biopsy). Eventually, the lesion became significantly enlarged, and radiographs showed osteolytic lesions in the phalangeal bone. Ray amputation of the finger was required to establish a wide resection of the chondrosarcoma. Most osteochondral tumors arising from the phalanges are benign tumors such as enchondromas, but primary chondrogenic malignant bone tumors (chondrosarcomas) occasionally occur. Chondrosarcoma of the phalanx is difficult to distinguish from enchondroma of the phalanx, because histological investigations of the two neoplasms often produce similar findings. Even with a combination of clinical, biopsy, and imaging findings, differentiating these neoplasms is still challenging, because the characteristic clinical and radiological features of chondrosarcoma do not appear until it becomes aggressive and starts to cause destructive changes. Once that happens, radical expanded resection of the tumor is essential. Therefore, longstanding enchondroma-like lesions should be actively treated in elderly patients, even if a definite diagnosis of chondrosarcoma cannot be made.

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  • Koji Sakamoto, Hiroyuki Ozawa, Masayuki Shimoda, Masashi Nakaishi, Ats ...
    Article ID: JNMS.2022_89-603
    Published: 2021
    [Advance publication] Released: September 14, 2021
    JOURNAL FREE ACCESS ADVANCE PUBLICATION

    Objectives: Reconstruction of medium-sized skin defect after excision of parotid carcinoma is performed using local flaps, pedicled flaps, or free flaps. The bilobed flap is one of the local flaps adopted by plastic surgeons primarily for a small nasal skin defect. We report a case of a patient with parotid carcinoma with skin infiltration who successfully underwent skin reconstruction with the bilobed flap. Methods: An 84-year-old man had visited our hospital with a parotid mass 2 months earlier. He was diagnosed with parotid carcinoma with skin infiltration and underwent radical surgery. The skin defect was round-shaped with a 6 cm diameter. It was resected and reconstructed using a bilobed flap designed caudal to the defect. Results: Except for the postoperative facial nerve palsy, which improved within 6 months, the postoperative course was uneventful, and the patient was discharged on the seventh postoperative day. Pathological examination revealed a sarcomatoid salivary duct carcinoma. Conclusions: The bilobed flap is useful for reconstructing skin defects measuring up to 6 cm in diameter.

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  • Nozomi Ouchi, Toshiyuki Takeshita, Sayuri Kasano, Ryoko Yokote, Mirei ...
    Article ID: JNMS.2022_89-103
    Published: 2021
    [Advance publication] Released: April 19, 2021
    JOURNAL FREE ACCESS ADVANCE PUBLICATION

    Background: Miscarriage occurs in 10-15% of pregnancies and recurrent pregnancy loss (RPL) occurs in 1% of couples hoping for a child. Various risk factors, such as thrombophilia, uterine malformation, and embryonic chromosomal aberration cause RPL. We hypothesized that antithrombotic therapy for RPL patients with thrombophilia would reduce miscarriage due to thrombophilia, which would reduce the total miscarriages and result in a relative increase in miscarriage due to embryonic chromosomal aberrations. In this study, we investigated the incidence of chromosomal aberrations in products of conception in RPL patients with and without antithrombotic therapy.

    Methods: We performed a single-center, retrospective review of cases diagnosed as miscarriage with embryo chromosome analysis between July 1, 2000, and May 31, 2019. Rates of chromosomal aberration were compared between RPL patients with and without thrombophilia or antithrombotic therapy.

    Results: One hundred and-ninety RPL cases were analyzed. The average age was 37.4 ± 4.3 years, and the average number of previous pregnancy losses was 2.2 ± 1.1. The overall chromosomal aberration rate was 67.4% (128/190). There was no difference in the chromosomal aberration rate between the factors for RPL, with or without thrombophilia, and antithrombotic therapy. Only advancing maternal age had significant correlation to increased embryo chromosomal aberration rates.

    Conclusions: With or without antithrombotic therapy, miscarriage was caused by embryonic chromosome abnormalities at a certain rate. Antithrombotic therapy in RPL patients with thrombophilia may reduce abortions due to thrombophilia, which may also normalize the rate of embryonic chromosome aberrations in the subsequent miscarriages.

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  • Kohsuke Terada, Yuichiro Sumi, Akio Hirama, Tetsuya Kashiwagi, Yukinao ...
    Article ID: JNMS.2022_89-201
    Published: 2021
    [Advance publication] Released: April 19, 2021
    JOURNAL FREE ACCESS ADVANCE PUBLICATION

    Background: The number of patients on peritoneal dialysis (PD) in our hospital has increased during the past 5 years, but the number discontinuing PD has also increased. The purpose of this study was to identify the risk factors for PD discontinuation by analyzing the association between technical survival period (defined as the duration of PD) and various clinical factors.

    Methods: We retrospectively investigated 87 patients who were started on PD at our hospital and attended regularly from April 2015 to March 2020, and we analyzed the association between technical survival period and various clinical factors. We also looked for associations between technical survival period and hospitalizations for heart failure, peritonitis, and exit-site infections among patients undergoing PD.

    Results: The patients using renin-angiotensin-aldosterone system inhibitors (RASi) (P = 0.0218), those with left ventricular ejection fraction (LVEF) > 50% (P = 0.0194) when they started PD, and those with estimated glomerular filtration rate (eGFR) ≥ 6 (mL/ min/1.73m2) (P = 0.0013) at the initiation of PD showed significantly longer technical survival period, and those who were hospitalized for heart failure had significantly shorter period (P = 0.0008).

    Conclusion: Treatment of RASi, LVEF > 50% and eGFR ≥ 6 mL/ min/1.73m2 when the initiation of PD and better volume control to prevent ultrafiltration failure and heart failure may improve technical survival period in patients undergoing PD.

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  • Satoko Nakano, Yoshimi Imawari, Akemi Mibu, Shunsuke Kato, Shigeo Yama ...
    Article ID: JNMS.2022_89-203
    Published: 2021
    [Advance publication] Released: April 19, 2021
    JOURNAL FREE ACCESS ADVANCE PUBLICATION

    Background: The emergence of molecular targeted therapies (MTTs) has altered the treatment landscape of hormone receptor-positive (HR+), human epidermal growth factor 2-negative (HER2-) metastatic breast cancer (MBC). The objective of this study was to describe treatment patterns, clinical outcomes, and safety profiles among patients with HR+/HER2- MBC treated with palbociclib, abemaciclib, or everolimus in a clinical practice setting.

    Methods: Forty-five patients with HR+/HER2- MBC were enrolled; of these, 40 received molecular targeted therapy (MTT) in ≥3rd lines and 5 received treatment in the 1st/2nd line. The results were compared with clinical trials.

    Results: Median progression-free survival (PFS) in all patients was 5.3 months (95% confidence interval [CI] 2.8–8.4), and a similar PFS was found for patients receiving 1st/2nd line (5.5 months, 95% CI 1.8– ) and ≥ 3rd line (5.1 months, 95% CI 2.8–9.4) treatments. Eleven patients continued with the same regimen for >1 year; treatment is ongoing for 15 patients. In 23 patients (51%), everolimus was administered prior to cyclin-dependent kinase (CDK) 4/6 inhibitors. The most frequent grade 3 or higher adverse event (AE) with CDK4/6 inhibitors was neutropenia, whereas AEs ≥ grade 3 with everolimus included Pneumocystis pneumonia, sepsis, and stomatitis.

    Conclusions: Molecular targeted therapy (MTT) was mostly used in ≥ 3rd lines, and PFS of patients receiving 1st/2nd line and ≥ 3rd line treatments was similar; however, this study included heavily treated patients and a limited number of cases. Treatment options should take into consideration the maximal benefit to the patient based on the results of clinical trials.

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  • Atsuko SUGIMOTO, Kanae NAKAMURA, Kousuke KUWAHARA, Noriko MATSUMOTO, K ...
    Article ID: JNMS.2022_89-206
    Published: 2021
    [Advance publication] Released: April 19, 2021
    JOURNAL FREE ACCESS ADVANCE PUBLICATION

    The term carcinoma of unknown primary (CUP) refers to a malignant tumor whose histology suggests strongly that it is a metastasis, yet the primary lesion is unknown despite sufficient whole body evaluation at the time of examination. CUP has similar incidences in men and women and the average age at diagnosis is 60 years. While its overall incidence varies depending on the report, it generally accounts for 1–5% of all cancers. Thus, it is rare. We encountered a case of squamous cell carcinoma of the inguinal region that seemed to be a metastasis and for which we could not find the primary lesion. This case is reported here along with a literature review on CUP to increase awareness of this rare lesion.

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  • Tomoo Jikuzono, Shigekazu Suzuki, Osamu Ishibashi, Shoko Kure, Atsuko ...
    Article ID: JNMS.2022_89-207
    Published: 2021
    [Advance publication] Released: April 19, 2021
    JOURNAL FREE ACCESS ADVANCE PUBLICATION

    Background: Adenoid cystic carcinoma of the trachea (ACCT) is a rare cancer; ACCT with thyroid invasion is particularly rare. We first suspected anaplastic thyroid carcinoma (ATC) but diagnosed ACC after performing fine needle aspiration cytology (FNAC). A tracheal origin was confirmed after operation.

    Case Description: We report the case of a 77-year-old female presenting to our hospital with acute inspiratory dyspnea requiring emergency tracheotomy. Physical examination revealed a right anterior neck swelling with a hard and unmovable mass. Computed tomography (CT) and ultrasonography (US) showed tumor extension to the right thyroid lobe, and between the first and third tracheal rings, which caused severe stenosis of the lumen. Next, we performed FNAC. Clinical findings were highly suspicious for ACCT with thyroid invasion. Thirty-five days after the first visit to our department, the patient underwent total laryngectomy, cervical esophagectomy, and thyroidectomy with bilateral selective neck dissections at another hospital. The tumor was located in the right posterior wall of the trachea, with extension into the right thyroid gland. Pathological examination showed an infiltrative carcinomatous proliferation with tubular and cribriform patterns. The tumor was classified as pT4N1. A definite diagnosis was made after histopathological analyis of the surgical specimen confirmed ACCT. The tumor was found to be positive for FABP7, a putative prognostic marker of ACC, and metastasized to the lungs 3 years after the surgery.

    Conclusions: ACCT with thyroid invasion is an extremely rare malignant neoplasm. FNAC was useful for differentiating ACCT from other diagnoses and enabled appropriate surgical treatment.

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  • Tae Matsumoto, Takeshi Yanagihara, Kaoru Yoshizaki, Masami Tsuchiya, M ...
    Article ID: JNMS.2021_88-609
    Published: 2021
    [Advance publication] Released: March 09, 2021
    JOURNAL FREE ACCESS ADVANCE PUBLICATION

    The May-Hegglin anomaly is characterized by inherited thrombocytopenia, giant platelets, and leukocyte cytoplasmic inclusion bodies. The Fechtner, Sebastian, and Epstein syndromes are associated with mutations of the MYH9-coding nonmuscle myosin heavy chain ⅡA, similar to the May-Hegglin anomaly, and are together classified as MYH9 disorders. MYH9 disorders may include symptoms of Alport syndrome, including nephritis and auditory and ocular disorders. A 6-year-old boy was diagnosed with an MYH9 disorder after incidental discovery of hematuria and proteinuria. Focal segmental glomerulosclerosis was detected on renal biopsy. However, despite no prior bleeding diatheses, he developed a large post-biopsy hematoma despite a preprocedural platelet transfusion calculated to increase the platelet count from 54,000/μL to >150,000/μL. Idiopathic thrombocytopenic purpura is a major cause of pediatric thrombocytopenia following acute infection or vaccination, and patients with MYH9 disorders may be misdiagnosed with idiopathic thrombocytopenic purpura and inappropriately treated with corticosteroids. Careful differential diagnosis is important in thrombocytopenic patients with hematuria and proteinuria for the early detection of thrombocytopenia. Patients with MYH9 disorders require close follow-up and treatment with angiotensin Ⅱ receptor blockers to prevent the onset of progressive nephritis, which may necessitate hemodialysis or renal transplantation. The need for renal biopsy in patients with MYH9 disorders should be carefully considered because there could be adverse outcomes even after platelet transfusion.

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