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.The changes of Silent Period before and after training of standing on balance-mat
Sakiko Ito ; Hiroki Funasaki ; Hiroteru Hayashi ; Kentaro Kawai ; Yasuhide Nakayama
Japanese Journal of Physical Fitness and Sports Medicine 2012;61(4):415-419
The purpose of this study was to evaluate the changes of pre-motion time (PMT), pre-motion silent period (PMSP), and switching silent period (SSP) before and after the training using balance-mat. Twenty healthy people aged 21-36 years old (average 26.5 years old) were subjected to a series of experiment. These were randomly divided into two groups (10 subjects each), control and balance-mat group. Activities of M. Soleus and M. Tibialis anterior were recorded by electromyogram (EMG) for the duration subjects were tried to raise their both heels as quick respond to a flashing lamp. Intervention consisted of 3minutes standing on the floor in control group, and 3 minutes standing on the balance-mat in balance-mat group. Then EMG was recorded as the same manner after the intervention in each group. There was no statistical difference of duration of PMSP and SSP between the two groups before intervention. On the other hand, those in balance-mat group were significantly shorter than those in control group after intervention. In addition, in balance-mat group, duration of PMSP and SSP after intervention were significantly shorter than that before intervention. There was no statistical difference of PMT between before and after the intervention. These results suggested balance-mat training was effective for shorten the duration of SSP and PMSP, that lead to control the posture function.


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