1.Inflammatory bowel disease in a young female patient with a novel de novo TRAF3 frameshift variant responsive to ustekinumab: a case report
Ichiro TAKEUCHI ; Kosuke TANIGUCHI ; Katsuhiro ARAI ; Toru UCHIYAMA ; Miho TERAO ; Asuka HORI ; Toshinao KAWAI ; Takako YOSHIOKA ; Reiko KYODO ; Hirotaka SHIMIZU ; Satoshi FUJITA ; Kenichiro MOTOMURA ; Yuka OKAZAKI ; Takashi ISHIKAWA ; Masao OGURA ; Kentaro HAYASHI ; Kenji MATSUMOTO ; Shuji TAKADA ; Masafumi ONODERA ; Hideaki MORITA ; Kenichiro HATA
Intestinal Research 2026;24(1):182-188
Tumor necrosis factor receptor-associated factor 3 (TRAF3) is an anti-inflammatory molecule that negatively regulates the non-canonical nuclear factor-κB pathway. Although TRAF3 haploinsufficiency (TRAF3 HI) can influence innate and adaptive immune cells, its effect on inflammatory bowel disease (IBD) development remains unclear. Here, we report the first case of severe early-onset IBD with a novel TRAF3 variant leading to HI, successfully treated with ustekinumab. A 6-year-old girl with a recurrent parotitis, otitis media, tonsilitis, and atopic dermatitis developed IBD involving the stomach, small intestine, and colon. At diagnosis, the immunoglobulin (Ig)G and IgA levels were relatively high, and lymphocyte subsets showed increased counts of plasmablasts, class-switch recombination B cells, and circulating T-follicular helper cells. Treatment with azathioprine and infliximab failed to maintain remission marked by several relapses accompanied by erythema nodosum and arthritis; however, ustekinumab, an anti-interleukin (IL)-12/23p40 antibody, led to long-term clinical remission, normalizing the Ig level and reducing abnormal lymphocyte counts. Whole-exome sequencing revealed a novel heterozygous mutation in TRAF3 [p.(Pro487Leufs*8)], resulting in TRAF3 under-expression. Our case may highlight the contribution of TRAF3 HI to the development of IBD and provide insights into IBD pathophysiology, suggesting the involvement of the IL-12/23-T-follicular helper cell pathway affected by genetic mutations.
2.Strengths and Merits of Transforaminal Full-Endoscopic Lumbar Spine Surgery Under the Local Anesthesia: A Review Article
Koichi SAIRYO ; Kazuta YAMASHITA ; Fumitake TEZUKA ; Mosatoshi MORIMOTO ; Hiroaki MANABE ; Kosuke SUGIURA ; Makoto TAKEUCHI ; Shunsuke TAMAKI ; Masashi KUMON ; Kozaburo MIZUTANI ; Yutaro KANDA ; Saori SOEDA ; Hiroshi KAGEYAMA ; Junzo FUJITANI
Journal of Minimally Invasive Spine Surgery and Technique 2024;9(Suppl 2):S143-S151
In the 2 decades or so since full-endoscopic spine surgery (FESS) was introduced, the procedure has advanced considerably. There are 2 major approaches of FESS, transforaminal (TF) and interlaminar. In this review article, we discuss the key strengths and merits of TF-FESS based on a literature search. First, the minimal invasiveness of the procedure allows for early return to work. Second, minimal invasiveness of the back muscles enables athletes to make a faster return to their previous competitive level. Third, the ability to perform TF-FESS under local anesthesia means it is suitable even in the elderly with poor general health.
3.Clinical features of very early-onset inflammatory bowel disease in Japan: a retrospective single-center study
Masaaki USAMI ; Ichiro TAKEUCHI ; Reiko KYODO ; Yuri HIRANO ; Kosuke KASHIWAGI ; Hiroki FUJIKAWA ; Hirotaka SHIMIZU ; Toshinao KAWAI ; Katsuhiro ARAI
Intestinal Research 2022;20(4):475-481
Background/Aims:
Very early-onset inflammatory bowel disease (VEO-IBD), defined as IBD diagnosed in patients younger than 6 years, is a challenge for pediatric gastroenterologists. Although there have been reports regarding VEO-IBD in Western countries, those in Asia are still lacking. This study aimed to investigate the clinical features of Japanese VEO-IBD patients.
Methods:
Patients with VEO-IBD diagnosed between 2006 and 2019 were evaluated retrospectively. The disease phenotypes were classified into ulcerative colitis type (UC-type) and Crohn’s disease type (CD-type), and the clinical features and courses were compared between the phenotypes.
Results:
Overall, 54 VEO-IBD patients (19 patients with UC-type and 35 patients with CD-type) were evaluated. The median age at onset was 18 months. One patient had severe combined immunodeficiency (SCID), and 9 patients had monogenic IBD. Monogenic IBD was more prevalent in the CD-type patients with perianal disease (CD-type (PD)). The age at onset was significantly lower in the CD-type group (P<0.05). The most common initial symptom was bloody stools (70%), followed by diarrhea (63%), weight loss (24%), fever (20%), and perianal disease (20%). Excluding patients with SCID and monogenic IBD, 23 out of 44 patients (52%) required biologics. The biologics were switched in 11 out of 44 patients (25%), and the majority of these patients (82%) were in the CD-type group. Overall, 9 patients (20%) required intestinal resection or ostomy placement.
Conclusions
CD-type tends to occur at an earlier age, and monogenic IBD occurs significantly more frequently in CD-type (PD). Disease severity and treatment should be individualized, owing to the disease heterogeneity.
4.A Case of Luminal B Breast Cancer in Which Preoperative Chemotherapy Was Used Due to Ineffective Preoperative Hormone Therapy
Yasuhiro KURUMIYA ; Tae NIWA ; Sakura ONISHI ; Shingo OYA ; Keisuke MIZUNO ; Ei SEKOGUCHI ; Gen SUGAWARA ; Masaya INOUE ; Takehiro KATO ; Naohiro AKITA ; Takayuki MINAMI ; Kosuke INADA ; Kenji TAKEUCHI ; Akihiro SEKIMOTO ; Akihito OGATA ; Akiko OSADA
Journal of the Japanese Association of Rural Medicine 2022;71(1):63-68
A 66-year-old, postmenopausal woman was referred to our hospital because of abnormal breast cancer screening results. A tumor was found in the upper outer part of the left breast. Biopsy revealed papillotubular carcinoma, ER (Allred score total score [TS] 3 = proportion score [PS] 2 + intensity score [IS] 1), PgR (Allred score TS 3 = PS 2 + IS 1), HER2 (2+), fluorescent in situ hybridization 1.1 (negative), and Ki-67 labeling index 15%. In diagnostic imaging, the tumor size was 35 mm. The diagnosis was T2N0M0 Stage IIA, luminal B-like breast cancer. First, letrozole 2.5 mg/day was administered as preoperative hormone therapy. After 2 months of treatment with letrozole, the tumor size had increased to 44 mm and preoperative hormone therapy was discontinued. She was started on preoperative chemotherapy (4 courses of epirubicin plus cyclophsphamide followed by 4 courses of triweekly docetaxel). The tumor size decreased, becoming undetectable. After these preoperative treatments, nipple-sparing mastectomy, sentinel lymph node biopsy, and breast reconstruction with a primary latissimus dorsi flap were performed. As of 3 years and 6 months after the operation, there has been no recurrence. At first, preoperative hormone therapy is performed for Luminal B-like breast cancer as in this case, if the response is insufficient, preoperative chemotherapy after hormone therapy may be a therapeutic option.
5.Three Cases of Successful Conservative Treatment of Ischemic Colitis With Hepatic Portal Venous Gas
Kosuke INADA ; Yasuhiro KURUMIYA ; Keisuke MIZUNO ; Ei SEKOGUCHI ; Gen SUGAWARA ; Masaya INOUE ; Takehiro KATO ; Naohiro AKITA ; Takayuki MINAMI ; Akihiro SEKIMOTO ; Kenji TAKEUCHI ; Akihito OGATA ; Akiko OSADA
Journal of the Japanese Association of Rural Medicine 2021;69(6):612-617
Here, we report 3 cases of conservatively treated ischemic colitis with hepatic portal venous gas. In Case 1, an 84-year-old man visited the emergency department because of fatigue, vomiting, and upper abdominal pain. In Case 2, a 72-year-old man was hospitalized for rehabilitation in another hospital following cervical spine trauma. He had diarrhea and mesogastric pain for 2 days and was transferred to our hospital. In Case 3, an 89-year-old woman visited the emergency department because of upper abdominal pain and vomiting. In all cases, we diagnosed the illness as ischemic colitis with hepatic portal venous gas based on computed tomography findings, and the vital signs of all patients were stable. They were treated conservatively. They were able to resume oral intake and were discharged or transferred to another hospital. Hepatic portal venous gas has been considered a poor prognostic sign of severe diseases such as intestinal necrosis. However, recently, reports of cases treated conservatively have been increasing. Conservative treatment may be selected for ischemic colitis associated with hepatic portal venous gas taking into account the patient’s general condition.
6.Short-Duration Neuromuscular Electrical Stimulation Increases Range of Motion Following an Increased Tolerance for Muscle Extensibility in Healthy Subjects
Ryosuke NAKANISHI ; Kosuke TAKEUCHI ; Kazunori AKIZUKI ; Ryoma NAKAGOSHI ; Hironobu KAKIHANA
The Journal of The Japanese Society of Balneology, Climatology and Physical Medicine 2021;84(2):87-92
Background: Neuromuscular electrical stimulation (NMES) has been noted as an effective pre-conditioning intervention for an increase of the rate of development (RFD). However, it is unknown whether NMES increases muscle flexibility. Therefore, the purpose of this study was to investigate whether neuromuscular electrical stimulation (NMES) at 20% of maximal voluntary isometric contraction (MVIC) torque level for 5 seconds used as a warm-up is effective for improving the range of motion (ROM) following increased tolerance for muscle extensibility with/without alteration of the MTU stiffness. Methods and Results: Maximum ROM and ROM with standardized torque (30N) were measured in both legs in thirteen healthy males before and after NMES intervention at a 20% MVIC level for 5 seconds. The maximum ROM increased after intervention compared with before intervention on the NMES side, while it was not changed on the non-NMES side. In addition, there were no significant differences in the ROM with standardized torque in any measurements. Conclusion: It is concluded that NMES at 20% MVIC for 5 seconds could be effective for improving ROM following an increased tolerance for muscle extensibility without alteration of the MTU stiffness.
7.Open Versus Laparoscopic Surgery for Acute Appendicitis in Adults
Masayoshi SAKUMA ; Yasuhiro KURUMIYA ; Keisuke MIZUNO ; Ei SEKOGUCHI ; Gen SUGAWARA ; Masaya INOUE ; Takehiro KATO ; Naohiro AKITA ; Naoya TORII ; Yasukazu KANIE ; Kosuke INADA ; Kenji TAKEUCHI ; Akihito OGATA ; Akiko OSADA
Journal of the Japanese Association of Rural Medicine 2020;69(1):43-47
The purpose of this study was to compare the results of open surgery and laparoscopic surgery for acute appendicitis in adults. In 2013, we primarily selected open surgery for acute appendicitis, but in 2017 we opted to select mainly laparoscopic surgery. We compared between 92 patients who had undergone open surgery in 2013 and 88 patients who underwent laparoscopic surgery group in 2017. There was no difference in age, sex, body mass index, white blood cell count, C-reactive protein, or perforation rate on computed tomography between the two groups. The laparoscopic surgery group had significantly longer operation time but significantly lower blood loss and postoperative complication rate. In particular, laparoscopic surgery was advantageous in terms of hemostasis for moderate bleeding. The results suggest that laparoscopic surgery may be more useful in adult appendicitis than open surgery.


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