Marta Tavares

Omalizumab in the treatment of eosinophilic esophagitis and food allergy

Omalizumab is currently used in severe asthma and has been tried in other allergic disorders. The authors report two patients with multiple food allergies and eosinophilic esophagitis on a very restrictive diet who have been treated with omalizumab, in order to improve food intolerance—the major distressing factor in their lives. The patients significantly improved in the reported symptoms. However, no improvement was seen regarding esophageal endoscopy and histology. Given the poor histological and endoscopy response, eosinophilic esophagitis persistence is unlikely to be IgE dependent. Omalizumab may improve the quality of life of patients with severe food allergy by improving symptoms, but it does not appear to change endoscopic and histological features of eosinophilic esophagitis in a short follow-up.

NOD2/CARD15 and TNFA, but not IL1B and IL1RN, are associated with Crohn's disease

Background: NOD2/CARD15 was described as the first susceptibility gene to Crohns disease (CD). Polymorphisms in the TNFA gene and in the IL1 gene cluster, which are associated with an enhanced chronic inflammatory response, may also play a role in the development of CD. The aim of this study was to determine the association of polymorphisms in the CARD15, TNFA, IL1B, and IL1RN genes with risk of development of CD and with the clinicopathological profile of CD patients. Methods: In a case‐control study including 235 CD patients and 312 controls (929 controls for TNFA genotyping), the CARD15 (R702W, G908R, and1007fs), TNFA (−308G/A and −857C/T), IL1B (−511C/T), and IL1RN (intron 2 variable number of tandem repeats) polymorphisms were genotyped. Results: We observed a significant association between CD and the CARD15 polymorphisms, with an odds ratio (OR) of 2.9 [95% confidence interval (CI), 1.9 to 4.6] for carriers of 1 variant allele and an OR of 11.8 (95% CI, 3.5 to 40.4) for carriers of 2 variant alleles. Patients with CARD15 polymorphisms had more frequently ileal or ileocolonic disease location, stricturing phenotype, abdominal surgery, and no extraintestinal manifestations. The TNFA‐308A/A genotype was associated with susceptibility to CD with an OR of 3.0 (95% CI, 1.2 to 7.2). TNFA‐308A/A homozygotes showed a higher frequency of erythema nodosum and arthritis, colonic disease location, and absence of abdominal surgery. No associations were found with the TNFA‐857, IL1B‐511, and the IL1RN VNTR polymorphisms. Conclusions: These findings suggest that CARD15 and TNFA‐308 genetic polymorphisms are associated with increased risk of CD displaying distinct clinicopathological profiles.

Pediatric gastrointestinal endoscopy: European Society of Gastrointestinal Endoscopy (ESGE) and European Society for Paediatric Gastroenterology Hepatology and Nutrition (ESPGHAN) Guideline Executive summary

This Executive summary of the Guideline on pediatric gastrointestinal endoscopy from the European Society of Gastrointestinal Endoscopy (ESGE) and the European Society for Paediatric Gastroenterology Hepatology and Nutrition (ESPGHAN) refers to infants, children, and adolescents aged 0 - 18 years. The areas covered include: indications for diagnostic and therapeutic esophagogastroduodenoscopy and ileocolonoscopy; endoscopy for foreign body ingestion; endoscopic management of corrosive ingestion and stricture/stenosis; upper and lower gastrointestinal bleeding; endoscopic retrograde cholangiopancreatography, and endoscopic ultrasonography. Percutaneous endoscopic gastrostomy and endoscopy specific to inflammatory bowel disease (IBD) have been dealt with in other Guidelines and are therefore not mentioned in this Guideline. Training and ongoing skill maintenance will be addressed in an imminent sister publication.

Celiac disease in first degree relatives of celiac children

CONTEXT The first degree relatives of celiac patients represent a high risk group for the development of this disorder, so their screening may be crucial in the prevention of long-term complications. OBJECTIVE In order to determine the prevalence of celiac disease in a group of first degree relatives of children with proven gluten intolerance, we conducted a prospective study that consisted in the screening of celiac disease, using a capillary immunoassay rapid test that allows a qualitative detection of IgA antibody to human recombinant tissue transglutaminase (IgA-TTG). METHODS When the screening test was positive subjects were advised to proceed with further investigation. The screening test was performed in 268 first degree relatives (143 mothers, 89 fathers, 36 siblings) corresponding to 163 children with celiac disease. RESULTS Screening test was positive in 12 relatives (4.5%), of which 1 refused to continue the investigation. In the remaining 11 relatives celiac disease was diagnosed in 7 cases (2.6%, 5 mothers, 2 fathers) who had a median age of 39 years (27-56 years), mild gastrointestinal symptoms, high titre of IgA-TTG and histology abnormalities confirming the diagnosis. All these patients are currently on a gluten-free diet. CONCLUSION The prevalence of celiac disease among first degree relatives (2.6%) was 5 times higher than that in the general population. Although the recommendations for screening asymptomatic high risk groups, such as first degree relatives, are not unanimous the early diagnosis is crucial in preventing complications, including nutritional deficiency and cancer.

Endoscopic Mucosectomy in a Child Presenting with Gastric Heterotopia of the Rectum

Gastric mucosal heterotopia has been described in all levels of the gastrointestinal tract. Its occurrence in the rectum is uncommon. We report the case of a 4-year-old boy referred to Pediatric Gastroenterology for intermittent rectal bleeding for the past 2 years. Total ileocolonoscopy revealed a flat, well-circumscribed lesion of 4 cm, with elevated margins, localized at 10 cm from the anal verge. Histologic examination showed typical gastric mucosa of the oxyntic type. Treatment with proton pump inhibitors was started without resolution of the symptoms and, therefore, an endoscopic mucosal resection was performed. Heterotopic gastric mucosa represents a rare cause of rectal bleeding in children and endoscopic evaluation is fundamental for diagnosis. Although not usually performed in pediatric ages, endoscopic mucosectomy allows complete resolution of the problem avoiding surgery.

Vulvar inflammation: a presentation of Crohn's disease

An otherwise healthy 13-year-old girl presented with a 6-week history of painless vulvar swelling and erythema which was previously treated with topical corticosteroids and antifungals without improvement. There was no history of trauma or sexual abuse, and the physical examination revealed an asymmetric vulvar swelling and erythema of the right labia (figure 1). Laboratory work-up was normal, except for a raised faecal calprotectin level of 628 µg/g …

Phlegmonous gastritis: a rare cause of abdominal pain.

p e Phlegmonous gastritis is a rare cause of acute, rapidly progressive (1,2), and severe bacterial infection of the gastric wall with poor prognosis, particularly if diagnosis is delayed or overlooked. Early diagnosis and aggressive antibiotic therapy seem to improve the outcome (3). A 7-year-old black boy was brought to the emergency department because of nausea, vomiting, epigastric pain, subfebrile body temperature, and malaise, 2 weeks after an acute tonsillitis. Physical examination revealed poor general aspect and generalized abdominal pain with no tenderness. Biochemical testing revealed leukocytosis with neutrophilia and elevation of both erythrocyte sedimentation rate and C-reactive protein. A necrotic lymph node next to the aorta was detected by abdominal ultrasound, and a computed tomography scan of the abdomen confirmed that abnormality and showed thickened gastric wall (Fig. 1). The upper gastrointestinal endoscopy showed gastric mucosa with hypertrophic folds, inflammation, and ulceration (Fig. 2). The histological examination showed lesions of acute gastritis, and the molecular analysis was positive for Streptococcus pneumoniae and Epstein-Barr virus (negative immunoglobulin M and positive immunoglobulin G) (Fig. 3). The child fully recovered after treatment mucosa.

Successful treatment with sirolimus of a patient with Blue Rubber Bleb Nevus syndrome

Figure 1 Capsule enteroscopy showing typical vascular malformation of blue rubber bleb nevus syndrome located in the jejunum (a) and ileum (b). Figure 3 Histological findings of the surgical specimen. Conventional H/E staining of the cavernous hemangiomas, showing a vascular lesion constituted of ectatic venous channels, filled with blood, located predominantly in the submucosa, with focal involvement of deep mucosal layer.

Eosinophilic Oesophagitis in Children: Disease Modulation by Topical Steroids

Purpose of reviewEosinophilic oesophagitis (EoE) is a chronic inflammatory disease, and effective treatment for paediatric EoE is still evolving. There is no consensual standard therapy for adults or children, as evolving concepts still need to be properly validated and there has been continuous update from published trials. This paper summarizes the current knowledge about inflammatory background and corticosteroid therapy in paediatric eosinophilic oesophagitis.Recent findingsThere are some effective therapies in EoE treatment, and currently, the use of PPI may be considered as the first-line treatment, as a sub-group of EoE patients can be responsive to them. However, a considerable proportion of patients will not respond both clinically and histologically or will recur. Various dietary options and topical steroids are valid alternatives.Basic research has shown that corticosteroids downregulate inflammation and prevent remodelling, reducing the long-term complication rate, mainly related to stenosis.Corticosteroids are effective and safe especially if delivered in a viscous solution (budesonide, fluticasone). New formulations may be available soon thereby sparing the need for home-made manipulations. Clinical remission and the possibility to maintain treatment for long periods without serious side-effects make this option attractive in paediatric patients that have the prospect of long-term disease.SummaryCorticosteroids are effective as induction and maintenance therapy and can be used safely in long-term therapy in childhood, leading to sustained remission.Active research will provide further evidence to consolidate outcome and length of treatment.

'Education and Imaging. Gastrointestinal: Successful treatment with sirolimus of a patient with blue rubber bleb nevus syndrome.

Figure 1 Capsule enteroscopy showing typical vascular malformation of blue rubber bleb nevus syndrome located in the jejunum (a) and ileum (b). Figure 3 Histological findings of the surgical specimen. Conventional H/E staining of the cavernous hemangiomas, showing a vascular lesion constituted of ectatic venous channels, filled with blood, located predominantly in the submucosa, with focal involvement of deep mucosal layer.