Polymorphisms for interleukin 1 beta exon 5 and interleukin 1 receptor antagonist in Taiwanese children with febrile convulsions

OBJECTIVE: To investigate whether interleukin 1 beta (IL-1 beta) exon 5 and IL-1 receptor antagonist (IL-1Ra) gene polymorphisms can be used as markers of susceptibility to febrile convulsions in children. METHODS: Children were divided into 2 groups: those with febrile convulsions (group 1; n = 51) and normal control subjects (group 2; n = 83). Polymorphisms for IL-1 beta exon 5 and IL-1Ra gene polymorphisms were detected by polymerase chain reaction. Genotypes and allelic frequencies for IL-1 beta exon 5 and IL-1Ra gene polymorphisms in both groups were compared. RESULTS: Genotype and allele frequencies for IL-1 beta exon 5 in both groups were not significantly different. Proportions of E1 homozygotes and E1/E2 heterozygotes for IL-1 beta exon 5 were 50 (98.1%) and 1 (1.9%), respectively, in group 1 and 82 (98.8%) and 1 (1.2%), respectively, in group 2. Frequencies of alleles E1 and E2 for IL-1 beta exon 5 were 101 (99.0%) and 1 (1.0%), respectively, in group 1 and 165 (99.4%) and 1 (0.6%), respectively, in group 2. Genotype proportions and allele frequencies for IL-1Ra between groups were significantly different. Proportions of genotypes I/I and I/II for IL-1Ra were 49 (96.1%) and 2 (3.9%) in group 1 and 69 (83.1%) and 14 (16.9%) in group 2. Frequencies of alleles I and II for IL-1Ra were 100 (98.0%) and 2 (2.0%) in group 1 and 152 (91.6%) and 14 (8.4%) in group 2. CONCLUSIONS: The IL-1Ra allele I is associated with a higher susceptibility to febrile convulsion, which may become a useful marker for predicting the development of febrile convulsions. The IL-1 beta exon 5 gene polymorphisms are not a useful marker for predicting the susceptibility to febrile convulsions.     

Interleukin-1beta exon 5 and interleukin-1 receptor antagonist in children with immune thrombocytopenic purpura

Immune thrombocytopenic purpura (ITP) is associated with cytokine response and dysregulation of the cytokine network. We investigated the polymorphisms of interleukin (IL)-1beta exon 5 and IL-1 receptor antagonist (IL-1 Ra) in 50 children with acute ITP, in 30 children with chronic ITP, and in 100 healthy children by polymerase chain reaction-based restriction analysis. No significant differences in either genotype distribution (P=0.52) or allelic frequencies (P=0.70) were found among children with acute ITP, chronic ITP, or controls for IL-1beta exon 5. However, significant differences in genotype distribution (P=0.02) and the allelic frequencies (P=0.007) were found among children with acute ITP, chronic ITP, and controls for IL-1 Ra. We found that the IL-1 Ra but not IL-1beta gene polymorphism was associated with childhood ITP. This finding suggests that the IL-1 Ra gene polymorphism is implicated in the pathophysiology of childhood ITP.     

Long-term prognosis of children with ulcerative colitis

The subsequent course of ulcerative colitis in 25 children admitted to hospital during the period 1931 to 1971 is reviewed.The period of observation averaged 24 years, ranging from 1 to 41 years. 19 patients showed extracolonic manifestations. 4 patients had a single attack of colitis, and in 19 the disease was of the chronic intermittent type. There was one case each of the acute fulminating and chronic continuous types.Three of 8 patients who had colectomy died postoperatively. One further patient died later of carcinoma of the rectal stump.At follow-up 5 patients (20%) had died and the remaining 20 (80%) were in remission.Although the case for surgery in the treatment of acute fulminating or resistant ulcerative colitis may be clear, that for prophylactic panproctocolectomy while the disease is in remission requires further study.     

Fatal myocarditis in a child with systemic onset juvenile idiopathic arthritis during treatment with an interleukin 1 receptor antagonist

Background

The pathologic diagnosis of isolated myocarditis without pericardial involvement is uncommonly encountered in systemic onset Juvenile Idiopathic Arthritis (soJIA).

Case

An eleven year-old boy with soJIA died suddenly while being treated with the interleukin 1 (IL-1) receptor inhibitor, anakinra. His autopsy revealed an enlarged heart and microscopic findings were consistent with myocarditis, but not pericarditis. Viral PCR testing performed on his myocardial tissue was negative.

Conclusion

This case illustrates myocarditis as a fatal complication of soJIA, potentially enabled by anakinra.     

儿童溃疡性结肠炎32例内镜及临床特征分析

溃疡性结肠炎(ulcerative colitis,UC),是一种原因不明以结肠黏膜和黏膜下层炎症反应为特点的慢性炎症反应性疾病.我院于2002年5月至2007年5月,5年问共行结肠镜检查3 948例,其中32例临床表现、结肠镜所见以及组织学检查符合UC诊断标准,占结肠镜检查总数的0.81%,本文对32例UC的临床特征,内镜下病变特征及组织学改变进行总结和分析.     

Endoscopic rectal sparing in children with untreated ulcerative colitis

BACKGROUND: Ulcerative colitis (UC) typically is associated with a confluent proctitis, whereas rectal sparing may be seen in large bowel Crohn disease (CD). A few studies have reported rectal sparing in UC and suggested that this might indicate a more severe form of the disease. This study aimed to determine the prevalence and prognostic significance of rectal sparing in children with newly diagnosed, untreated UC. METHODS: The records of all children with untreated UC presenting to a regional pediatric gastroenterology service between January 1996 and December 2001 were retrospectively reviewed. Patients were divided into two groups according to the endoscopic appearance of the rectum: Group 1 (proctitis) and Group 2 (rectal sparing). Clinical features, intractability index (duration of active disease as a proportion of length of follow-up), response to treatment, relapse index (number of recurrences per year), and the need for surgery were compared. RESULTS: Thirty children with untreated UC were identified. Seven (23%) had rectal sparing at initial endoscopy, but disease distribution was otherwise similar in both groups. Presenting symptoms were similar in those with and without rectal sparing. In Group 1, 20 (87%) children achieved remission with initial medical treatment, compared with 3 (43%) in Group 2 (P < 0.05). The intractability index was higher in children with rectal sparing, but the difference was not statistically significant (P = 0.22). During a median follow-up period of 2 years, one (4%) child in Group 1 and two (29%) children in Group 2 experienced primary sclerosing cholangitis, and two (29%) children with rectal sparing required colectomy, compared with none in Group 1. CONCLUSIONS: Endoscopic rectal sparing was seen in 23% of children with newly diagnosed, untreated UC, but this feature did not correlate with presenting symptoms. However, the presence of rectal sparing may indicate more aggressive disease that is less responsive to medical treatment.     

Anti-neutrophil cytoplasmic antibodies in Japanese children with ulcerative colitis

Objective: To investigate the diagnostic value of anti-neutrophil cytoplasmic antibodies (ANCA) in the diagnosis of ulcerative colitis (UC) in Japanese children.
Methodology Serum samples from 23 children with UC (17 Japanese, 6 non-Japanese), 27 children with Crohn's disease (CD) (10 Japanese, 17 non-Japanese), 10 children with other diarrhoeal diseases, and 33 normal, healthy adult volunteers were assayed for ANCA using an indirect immunofluorescence technique.
Results ANCA were detected in 6/17 (35%) UC patients and 0/10 (0%) CD patients in Japanese children, and in 3/6 (50%) UC patients and 3/17 (18%) CD patients in non-Japanese children. The difference in prevalence between Japanese and non-Japanese children with UC was not statistically significant ( P >0.05). ANCA were not found in other diarrhoeal patients and volunteers.
Conclusions Although ANCA have been reported to be useful in the diagnosis of UC in adults, they may be of limited use in Japanese children. This might reflect the heterogeneity of UC.     

Metabolic bone disease in children and adolescent patients with ulcerative colitis

ObjectiveMetabolic bone disease concerns a broad spectrum of conditions related to reduced bone density. Metabolic bone disease has been linked to chronic inflammatory diseases, such as ulcerative colitis. This study examines the prevalence of metabolic bone disease in ulcerative colitis patients and explores possible clinical predictors.MethodThe authors performed a retrospective study involving children and adolescents with confirmed ulcerative colitis between January 2013 and December 2018. Bone density was evaluated through a dual-energy X-ray absorptiometry scan of the spine and total body. Osteoporosis was defined as a bone mineral density Z-score of <?2 and osteopenia as a Z-score of between ?1.0 and ?2.ResultsA total of 37 patients were included in this analysis, with a mean age of 13.4 ± 3.9 years and a mean duration of illness of 2.1 ± 2.4 years. Using lumbar spine Z-scores and total body Z-scores, osteoporosis and osteopenia were identified by dual-energy X-ray absorptiometry scan measurements in 11 patients (29.7%) and 15 patients (40.5%), and in ten patients (27%) and 13 patients (35%), respectively. Lumbar spine Z-scores were significantly positively associated with male gender (B = 2.02; p = 0.0001), and negatively associated with the presence of extraintestinal manifestations (B = ?1.51, p = 0.009) and the use of biologics (B = ?1.33, p = 0.004). However, total body Z-scores were positively associated with body mass index Z-scores (B = 0.26, p = 0.004) and duration of illness in years (B = 0.35, p = 0.003).ConclusionsMetabolic bone disease is very common in this cohort of Saudi Arabian children and adolescents with ulcerative colitis and its occurrence appears to increase in female patients who suffer from extraintestinal manifestations.     

Complications in children with ulcerative colitis undergoing ileal pouch-anal anastomosis

Total colectomy with ileal pouch-anal anastomosis (IPAA) is considered the standard procedure for the surgical management of ulcerative colitis. Despite the widespread utility of the procedure, as many as 75% of patients who undergo IPAA, experience at least 1 complication. This review highlights difficult intraoperative scenarios and complications of pouch surgery in children, including intraoperative, postoperative, and functional complications. Intraoperative scenarios include insufficient mesenteric length and positive leak tests. Postoperative complications include surgical site infection, anastomotic leak, stricture, fistula, pouchitis, small bowel obstruction, and pouch failure. Less common complications include afferent limb syndrome, pouch prolapse, and superior mesenteric artery syndrome. Functional complications include incontinence, impaired quality of life, infertility, and sexual dysfunction. Despite complications, most patients are satisfied with their outcomes and report an improvement in their lifestyle.     

Follow-up of 60 children with ulcerative colitis and Crohn disease

The clinical courses of 60 children suffering from ulcerative Colitis (UC, n = 21) and Crohn's disease (CD, n = 39) were investigated over a period of 8.7 and 5.1 years respectively. At the time of diagnosis all UC-patients showed mucohemorrhagic feces. Relapses often occurred after emotional stress and in 81% of all patients during the winter season. Typical late complications were arthritis (6/21), osteoporosis (6/21), allergic diseases (8/21) and diabetes mellitus (2/21). However, the psychosomatic development appeared normal in at least 17/21 of these patients. Generally the courses in children with CD were more serious. Despite intensive therapy 15/39 children developed an intestinal stenosis which was followed by bowel resection in 11 of them. Further complications were fistulas (6/39), abscess-formations (4/39) and osteoporosis (12/39) due to steroid therapy. Only 12/39 showed a significant catch-up growth. Interviews and psychological tests revealed that CD-patients were introverted with strong connections to their families. Equally they longed for approval and social contact with their contemporaries.     

Management of acute severe ulcerative colitis in children

The incidence of pediatric-onset ulcerative colitis (UC) is rising. Children often present with a more severe disease phenotype as compared to adults with over a third requiring hospitalization for the management of acute severe ulcerative colitis (ASUC). Further, in pediatric patients presenting with inflammatory bowel disease (IBD) limited to the colon, a definitive diagnosis of UC vs. Crohn’s disease is often unclear. Here, we review the unique aspects of pediatric ASUC including the epidemiology, diagnosis, medical, and surgical management of this disease.     

Guidelines for treatment of ulcerative colitis in children

This paper introduces the guidelines for treatment of ulcerative colitis in children, created by the working group of the Japanese Society for Pediatric Gastroenterology, Hepatology and Nutrition (Chair: Yuichiro Yamashiro) and the Japanese Society for Pediatric Inflammatory Bowel Disease (IBD) (Chair: Akio Kobayashi). The ideas of the working group, with regard to the fundamental differences in medical treatment between children and adults, included: (1) for children, intensive medical treatment including appropriate systemic management is important during the acute phase of illness. (2) Treatment with steroids, which can cause growth disturbances, should not be continued for long periods of time. (3) Pulsed steroid therapy, selective removal of blood cells, and intravenous infusion of cyclosporin should be included in the therapeutic option for severe and fluminant cases.