Hirschsprung-associated inflammatory bowel disease: A multicenter study from the APSA Hirschsprung disease interest group

Background/PurposeA small number of Hirschsprung disease (HD) patients develop inflammatory bowel disease (IBD)-like symptoms after pullthrough surgery. The etiology and pathophysiology of Hirschsprung-associated IBD (HD-IBD) remains unknown. This study aims to further characterize HD-IBD, to identify potential risk factors and to evaluate response to treatment in a large group of patients.MethodsRetrospective study of patients diagnosed with IBD after pullthrough surgery between 2000 and 2021 at 17 institutions. Data regarding clinical presentation and course of HD and IBD were reviewed. Effectiveness of medical therapy for IBD was recorded using a Likert scale.ResultsThere were 55 patients (78% male). 50% (n = 28) had long segment disease. Hirschsprung-associated enterocolitis (HAEC) was reported in 68% (n = 36). Ten patients (18%) had Trisomy 21. IBD was diagnosed after age 5 in 63% (n = 34). IBD presentation consisted of colonic or small bowel inflammation resembling IBD in 69% (n = 38), unexplained or persistent fistula in 18% (n = 10) and unexplained HAEC >5 years old or unresponsive to standard treatment in 13% (n = 7). Biological agents were the most effective (80%) medications. A third of patients required a surgical procedure for IBD.ConclusionMore than half of the patients were diagnosed with HD-IBD after 5 years old. Long segment disease, HAEC after pull through operation and trisomy 21 may represent risk factors for this condition. Investigation for possible IBD should be considered in children with unexplained fistulae, HAEC beyond the age of 5 or unresponsive to standard therapy, and symptoms suggestive of IBD. Biological agents were the most effective medical treatment.Level of EvidenceLevel 4     

化浊解毒方对溃疡性结肠炎的治疗作用及机制

目的探讨化浊解毒方治疗溃疡性结肠炎(UC)的治疗作用及机制。方法120例UC患者按照随机数字表法分为观察组、对照组各60例。观察组予中药化浊解毒方口服,每日1剂,早晚2次温服;对照组予美沙拉嗪肠溶片口服,1.0 g/次,3次/d。2组疗程均4周。对比2组治疗前后Geboes指数、结肠镜下黏膜表现、生活质量评分、疾病活动指数及血清炎性因子IL-8、IL-35水平,凝血指标血清FIB水平,统计治疗后1年内复发情况。结果治疗后,观察组Geboes指数、疾病活动指数及血清炎性因子IL-8水平、凝血指标血清FIB水平均较本组治疗前降低,生活质量评分、血清炎性因子IL-35水平升高(P<0.05);且观察组治疗后疾病活动指数及血清炎性因子IL-8水平、凝血指标血清FIB水平均低于对照组,生活质量评分、血清炎性因子IL-35水平均高于对照组(P<0.05)。与对照组相比,治疗组糜烂、溃疡改善不明显(P>0.05),充血水肿、颗粒样变等肠镜表现改善情况均优于对照组(P<0.05)。治疗结束1年观察组复发率为10.64%,对照组为23.53%,2组差异有统计学意义(P<0.05)。结论化浊解毒方能改善UC患者临床症状,修复肠黏膜病理损伤,降低复发率;其机制可能与调节血清炎性因子IL-8、IL-35和凝血因子FIB水平有关。     

甲状腺切除术中喉返神经损伤的预防

目的：探讨降低喉返神经损伤的方法。方法：2005年9月-2007年1月共有375例甲状腺手术患者，对其喉返神经损伤进行分析。结果：375例病人中有5例喉返神经损伤，其中甲状腺腺瘤3例，桥本甲状腺炎1例，甲状腺癌1例，损伤后立即行喉镜检查示声带处于外展位。给予营养神经治疗，15 d-3个月后完全恢复，喉镜检查示声带正常。结论：喉返神经损伤可以预防，关键是术者应熟悉喉返神经的解剖结构和变异，熟悉其与周围组织及血管的关系，要有手术区域的组织结构特别是喉返神经走行的“立体影像”。     

The levels of plasma and salivary antioxidants in the patient with recurrent aphthous stomatitis

BACKGROUND: Despite plenty of research, the cause of recurrent aphthous stomatitis (RAS) remains obscure. It has been proposed that, the aetiological factors such as local trauma, smoking, vitamin deficiencies and viral infections lead to aphthae formation via final common pathway based on increased oxidative stress. The aim of this investigation was to evaluate the antioxidant enzyme superoxide dismutase (SOD), catalase (CAT), glutathione peroxidase (GSHPx) alterations in plasma and saliva, and in addition uric acid (UA) in saliva, in patients with RAS and healthy controls. METHODS: Thirty-two patients with RAS and 30 healthy controls were included into the study. The SOD, CAT, GSHPx and UA levels were measured in plasma and saliva in study and control groups. RESULTS: In the RAS group, although the mean SOD (P<0.001) and CAT (P<0.05) levels of plasma were lower, GSHPx (P<0.001) levels were higher than control group. The salivary concentrations of the SOD (P<0.001), CAT (P<0.05) and GSHPx (P<0.001) in RAS group were entirely opposite to plasma concentrations. UA were not significant between RAS group and controls. CONCLUSION: Since we found salivary SOD and CAT levels were high whereas plasma levels were low, it has been thought that, salivary defence mechanisms via antioxidant agents may be stimulated against to the ulcerous lesion. We consider that the organism might mobilize the antioxidant potential to the sites where they were needed. At this point, decrease of SOD and CAT levels in the plasma may be related to this shift. It is also thought that GSHPx secretion in the saliva may also be increased but the increase in its turnover may be responsible for the diminished activity.     

Collagenous colitis: Clinical and histological spectrum in ten patients

Collagenous colitis is characterized by the presence of a thick subepithelial collagen band in the colonic mucosa. The condition was diagnosed on rectal biopsy in 10 patients (one male, nine females) who presented with watery diarrhoea. Although rectal mucosal erythema was present in three and ulceration in two, the mucosa was of normal endoscopic appearance in five of the patients. There was marked variability in the thickness of the submucosal collagen band, both between and within individuals. Empirical drug therapy included sulphasalazine, glucocorticoids and antidiarrhoeals. All patients reported symptomatic improvement.     

Lung function development in the first 2 yr of life is independent of allergic diseases by 2 yr

The aim of the study was to assess if lung function at birth predicts lung function at 2 yr and secondly, if lung function development was influenced by the common phenotypes of recurrent bronchial obstruction (rBO) or atopic eczema (AE) by 2 yr. Lung function was assessed at birth (n = 802) and at 2 yr within the prospective birth cohort study 'the Environment and Childhood Asthma Study' in Oslo. The 135 children with lung function measured at birth by tidal flow volume (TFV) loops and passive respiratory mechanics, who were included in a nested case-control study were reinvestigated at 2 yr with clinical examination, TFV loops (n = 90) (mean age 26.6 (3.7 s.d.) months), skin prick test and parental interview. Children were categorized into quartiles (lower, middle two, upper) according to time to peak tidal expiratory flow/total expiratory time (t(PTEF)/t(E)) at birth as well as clinical phenotype based on the presence of rBO and/or AE (ever) by 2 yr. The observed reduction in mean t(PTEF)/t(E) from birth to 2 yr within the quartiles, were not significantly different after controlling for 'regression to the mean'. t(PTEF)/t(E) at birth correlated significantly with t(PTEF)/t(E) at 2 yr, (r = 0.475, p < 0.001). Children with both rBO and AE by 2 yr had significantly lower t(PTEF)/t(E) at 2 yr (p = 0.002) and at birth (p = 0.027), compared with children with no rBO or AE. Clinical phenotype at 2 yr did not influence the change in t(PTEF)/t(E) from birth to 2 yr. This study demonstrates a clear tracking of lung function from birth, not influenced by rBO or AE by 2 yr.     

Hyper-IgM syndrome with CHARGE association

A girl with coloboma of the iris, sensorineural deafness, growth delay, distinctive face, and cranial nerve dysfunction was diagnosed of CHARGE association in the first year of life. She presented with repeated otitis. At 3 yr of age, the patient suffered a septicemia ( Streptococcus pneumoniae , Corynebacterium sp.). The immunoglobulin G (IgG) and IgA serum levels were decreased, IgM increased and cellular immunity parameters were normal, supporting the diagnosis of hyper-IgM (HIM) syndrome. The sequence of CD40 ligand and cytidine deaminase genes were normal. From then on, she was receiving immunoglobulin intravenously with an excellent outcome . Here, we report the first case of CHARGE association and HIM syndrome in the same patient. Although the cause could not be identified, a non-random link is likely.     

The child with recurrent respiratory infections: normal or not?

Respiratory infections (RI) are one of the major complaints in children and adolescents, and represent a demanding challenge for the pediatrician. It has been estimated that at least 6% of Italian children younger than 6 yr of age present recurrent respiratory infections (RRI). Children with RRI are not affected by severe alterations of the immune system. RRI represent essentially the consequence of an increased exposure to infectious agents during the first years of life, when immune functions are still largely immature. Several social and environmental factors, such as day-care attendance, family size, air pollution, parental smoking, and home dampness, represent important risk factors for airway diseases and may contribute in various degrees to determine the incidence of RRI. The main problem for the pediatrician is to discriminate normal children with high RI frequency related to an augmented exposure to environmental risk factors from children affected by other underlying pathological conditions (immunological or not), predisposing to infectious diseases. When RRI diagnosis has been formulated, removal of environmental risk factors (i.e. precocious day-care attendance, smoking in the household) must first be suggested.     

Mucosal features and granulocyte–monocyte-apheresis in steroid-dependent/refractory ulcerative colitis

BACKGROUND: Mucosa-infiltrated granulocyte neutrophils are an early characteristic of inflammation and the main histological feature of active ulcerative colitis. Mucosal healing has recently been indicated as an important tool in the evaluation of response to treatment. While several studies have stressed the efficacy of granulocyte-monocyte-apheresis in inducing clinical remission in active ulcerative colitis, few data are available on mucosal features. AIM: Aim of this study was to assess the effects of granulocyte-monocyte-apheresis on clinical and mucosal features in patients with ulcerative colitis, dependent upon or refractory to steroids. MATERIAL AND METHODS: From April 2004 to April 2005, 12 patients (5 females, 7 males, mean age 49 years, range 33-71 years), with mild-moderate ulcerative colitis (six left colitis, six pancolitis) dependent/refractory upon steroids were enrolled. Each patient was treated for a 5-week period with five cycles of granulocyte-monocyte-apheresis. Patients were evaluated at baseline and 1 week after the last apheresis by means of Global Physician Assessment, quality of life features, laboratory tests (erythrocyte sedimentation rate, CRP, full blood count, faecal calprotectine), endoscopy and histology. RESULTS: At week 6 of follow-up, complete mucosal healing was observed in 3 out of 12 patients, partial mucosal healing in 8 patients and no change in 1 patient. Clinical response was complete in 8 out of 12 patients. CONCLUSIONS: These data suggest that granulocyte-monocyte-apheresis induces an improvement both in clinical and mucosal lesions in steroid-dependent/refractory ulcerative colitis. Of note, the reduction in granulocyte infiltration and the improvement in mucosal lesions are accompanied by a reduction in faecal calprotectine.