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.

We report a successful case of aortic valve-sparing root replacement for dilated aortic root after a Ross procedure. A 29-year-old male underwent a Ross procedure when he was 11 years old for congenital aortic bicuspid valve. The right ventricular outflow tract was reconstructed using an autologous pericardium as a single leaflet valve. Aortic root dilatation and moderate aortic valve regurgitation were noted. Further investigation with enhanced computed tomography and ultrasonic cardiography revealed good quality of leaflets and sufficient geometric height, and aortic valve-sparing root replacement was performed. In addition, we performed pulmonary valve replacement with a biological valve. The post-operative course was uneventful and the patient was discharged after 8 days with a completely controlled aortic valve regurgitation. No recurrence of aortic valve regurgitation was observed 1 year later. Because surgical outcomes of congenital heart diseases have improved and more patients have an increasing life expectancy, several other problems were revealed, such as the occurrence of aortic root dilatation after a Ross procedure. Aortic roots may dilate due to arterial pressure; however, valve-sparing procedures may be performed if the volume of the leaflets is sufficient.

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.

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.

Purpose: The long-term efficacy and safety of infliximab (IFX) in children with ulcerative colitis (UC) have not been well-evaluated. Here, we reviewed the long-term durability and safety of IFX in our single center pediatric cohort with UC. Methods: This retrospective study included 20 children with UC who were administered IFX. Results: For induction, 5 mg/kg IFX was administered at weeks 0, 2, and 6, followed by every 8 weeks for maintenance. The dose and interval of IFX were adjusted depending on clinical decisions. Corticosteroid (CS)-free remission without dose escalation (DE) occurred in 30% and 25% of patients at weeks 30 and 54, respectively. Patients who achieved CS-free remission without DE at week 30 sustained long-term IFX treatment without colectomy. However, one-third of the patients discontinued IFX treatment because of a primary nonresponse, and one-third experienced secondary loss of response (sLOR). IFX durability was higher in patients administered IFX plus azathioprine for >6 months. Four of five patients with very early onset UC had a primary nonresponse. Infusion reactions (IRs) occurred in 10 patients, resulting in discontinuation of IFX in four of these patients. No severe opportunistic infections occurred, except in one patient who developed acute focal bacterial nephritis. Three patients developed psoriasis-like lesions. Conclusion IFX is relatively safe and effective for children with UC. Clinical remission at week 30 was associated with long-term durability of colectomy-free IFX treatment. However, approximately two-thirds of the patients were unable to continue IFX therapy because of primary nonresponse, sLOR, IRs, and other side effects.

Purpose: The long-term efficacy and safety of infliximab (IFX) in children with ulcerative colitis (UC) have not been well-evaluated. Here, we reviewed the long-term durability and safety of IFX in our single center pediatric cohort with UC. Methods: This retrospective study included 20 children with UC who were administered IFX. Results: For induction, 5 mg/kg IFX was administered at weeks 0, 2, and 6, followed by every 8 weeks for maintenance. The dose and interval of IFX were adjusted depending on clinical decisions. Corticosteroid (CS)-free remission without dose escalation (DE) occurred in 30% and 25% of patients at weeks 30 and 54, respectively. Patients who achieved CS-free remission without DE at week 30 sustained long-term IFX treatment without colectomy. However, one-third of the patients discontinued IFX treatment because of a primary nonresponse, and one-third experienced secondary loss of response (sLOR). IFX durability was higher in patients administered IFX plus azathioprine for >6 months. Four of five patients with very early onset UC had a primary nonresponse. Infusion reactions (IRs) occurred in 10 patients, resulting in discontinuation of IFX in four of these patients. No severe opportunistic infections occurred, except in one patient who developed acute focal bacterial nephritis. Three patients developed psoriasis-like lesions. Conclusion IFX is relatively safe and effective for children with UC. Clinical remission at week 30 was associated with long-term durability of colectomy-free IFX treatment. However, approximately two-thirds of the patients were unable to continue IFX therapy because of primary nonresponse, sLOR, IRs, and other side effects.

The patient was a 52-year-old woman who had undergone laparoscopic colectomy with lymph node dissection and inferior mesenteric artery preservation for cancer of the descending colon. Functional end-to-end anastomosis was performed using a linear stapler. Colonoscopy at the 1-year follow-up revealed a type 2 tumor at the anastomotic site. She was diagnosed with anastomotic recurrence. We performed laparoscopic high anterior resection with inferior mesenteric artery dissection. Rectal resection preceded mobilization of the mesocolon because of severe adhesion around the anastomotic site. Laparoscopic surgery for anastomotic site recurrence is an option under the condition that the initial surgery was laparoscopic.

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.

BACKGROUND: The Japan Environment and Children's Study (JECS) is a nation-wide birth cohort study investigating environmental effects on children's health and development. In this study, the exposure characteristics of the JECS participating mothers were summarized using two questionnaires administered during pregnancy. METHODS: Women were recruited during the early period of their pregnancy. We intended to administer the questionnaire during the first trimester (MT1) and the second/third trimester (MT2). The total number of registered pregnancies was 103,099. RESULTS: The response rates of the MT1 and MT2 questionnaires were 96.8% and 95.1%, respectively. The mean gestational ages (SDs) at the time of the MT1 and MT2 questionnaire responses were 16.4 (8.0) and 27.9 (6.5) weeks, respectively. The frequency of participants who reported "lifting something weighing more than 20 kg" during pregnancy was 5.3% for MT1 and 3.9% for MT2. The Cohen kappa scores ranged from 0.07 to 0.54 (median 0.31) about the occupational chemical use between MT1 and MT2 questionnaires. Most of the participants (80%) lived in either wooden detached houses or steel-frame collective housing. More than half of the questionnaire respondents answered that they had "mold growing somewhere in the house". Insect repellents and insecticides were used widely in households: about 60% used "moth repellent for clothes in the closet," whereas 32% applied "spray insecticide indoors" or "mosquito coil or an electric mosquito repellent mat." CONCLUSIONS We summarized the exposure characteristics of the JECS participants using two maternal questionnaires during pregnancy.
Adult ; Child Health ; Cohort Studies ; Female ; Gestational Age ; Humans ; Japan ; Maternal Exposure ; statistics & numerical data ; Mothers ; statistics & numerical data ; Pregnancy ; Surveys and Questionnaires ; Young Adult

Introduction: Recently, community-based medical education has become widespread in Japanese medical schools, but the current status is not clear on a national level. A second survey of community-based medical education at all Japanese medical schools was conducted. The first survey was done in 2011. Methods: Members of the Council made and distributed a questionnaire to medical schools in order to assess the situation of community-based medical education as of April 2014. Results: A total of eighty schools responded. The number of schools which had community medicine programs was seventy-eight. In the first survey, the number was seventy-three. Seventy-seven schools gave community-based clinical clerkships. Discussion: The number of medical schools that had curriculum about community medicine was more than indicated in the first survey. Further research about the contents or implementation system of community-based clerkships is needed.