Phenotypic Pattern of Early Versus Later-Onset Pediatric Inflammatory Bowel Disease in a Eurasian Country.

OBJECTIVES: It is not clear whether the characteristics of pediatric inflammatory bowel disease (IBD) differ between Eastern and Western countries. The aim of this study was to analyze the characteristics of PIBD in Turkey, according to the age at diagnosis. METHODS: The data of 176 children with IBD who were followed in our center were analyzed. Patients were divided into early (EO-IBD, onset at 2 to <10 years) and later-onset (LO-IBD, 10 to ≤17 years) IBD according to the age at diagnosis. Patients' data with ulcerative colitis (UC) and Crohn's disease (CD) were compared. RESULTS: Of 176 patients, 47 (26.7%) were diagnosed with EO-IBD. Patients with early-onset ulcerative colitis (EO-UC) had the highest rate of family history of IBD (17.6%). Pancolitis was the most common form of UC regardless of the age at onset. The rate of moderate-severe disease activity in later-onset UC (62.5%) was higher than in EO-UC (37.5%). A higher rate of extraintestinal manifestations was observed in EO-IBD patients, particularly in EO-UC (38.2%) than in LO-IBD patients. Patients with early-onset CD (EO-CD) had predominantly colonic involvement and nonstricturing, nonpenetrating disease behavior. The rate of perianal disease in patients with later-onset CD (LO-CD) (64.5%) was noticeably higher than those with EO-CD (23%). CONCLUSIONS: Our results suggest that patients with EO-UC represented a distinct phenotype with a mild disease activity, high rate of extraintestinal symptoms, and a high proportion of family history. The analysis of our IBD cohort also demonstrated remarkably high rate of perianal disease, particularly in patients with LO-CD.

Evaluation of mucosal status in the follow-up of pediatric patients with celiac disease: the role of serology.

Recent guidelines suggest non-biopsy serology-based approach for the diagnosis of celiac disease; however, there is no evidence-based data regarding noninvasive follow-up of mucosal healing. The aim of this study is to investigate the efficacy of serology in reflecting mucosal status in the follow-up of pediatric patients with celiac disease. This is a validation study conducted at a university hospital. Patients who had biopsy proven celiac disease (Marsh III) at diagnosis, and had been followed-up for at least 12 months, were prospectively evaluated with duodenal biopsies. tTG-IgA and EMA tests were performed on the day of endoscopy. One hundred four patients with a mean age of 7.4 ± 4.02 years were included in the study. The sensitivity and specificity of tTG-IgA were 85.2% and 61% respectively, with a high negative predictive value (NPV) of 92.2% but a very low positive predictive value (PPV) of 43.4%. We found that a cutoff value of 68.5 U/mL for tTG-IgA had a sensitivity, specificity of 85.2% and 85.7% respectively. The AUC was 0.891. The sensitivity and specificity of EMA was 77.8% and 87% respectively, with a high NPV of 91.8% but low PPV of 67.7%. CONCLUSION: This study suggests that negative tTG-IgA and/or EMA can be used as an indicator of mucosal improvement in the follow-up of pediatric patients with celiac disease. However, positive serology (i.e., < 10 × ULN) may be misleading in reflecting mucosal status in the follow-up of pediatric patients with celiac disease. WHAT IS KNOWN: • The tissue transglutaminase IgA (tTG-IgA) and endomysium IgA (EMA) tests are widely used, sensitive and reliable diagnostic tests, but their role in monitoring adherence to dietary treatment in celiac patients has not yet been demonstrated. • There is still no reliable and non-invasive marker of persistent villous atrophy or mucosal recovery. WHAT IS NEW: • Negative celiac serology detected in the follow-up of pediatric patients with celiac disease was successful in demonstrating histopathological mucosal healing. • Positive celiac serology, which is highly reliable in the diagnosis of celiac disease, has not been successful in reflecting mucosal status when used in the follow-up of pediatric patients with celiac disease.

Outcomes of Pediatric Fistulising Perianal Crohn's Disease.

BACKGROUND: Perianal disease is reported more widely in pediatric Crohn patients than in the past, and has been stated as an independent modifier of the disease behavior. In this study, we aimed to analyze the clinical characteristics and outcomes of fistulising perianal Crohn's disease (fpCD) in the pediatric age group. METHODS: A total number of 149 children with an established diagnosis of inflammatory bowel disease who have been diagnosed before 18 years of age and followed in our tertiary center were revised. Clinical, endoscopic, laboratory, and radiologic data of 50 patients with CD, who had at least 18 months follow-up data, were compiled. RESULTS: Of 50 patients, 26 (52%) were diagnosed as fpCD (38% at onset). More than half of the patients without any notable external orifices around the perianal area were diagnosed as fpCD by an magnetic resonance imaging (MRI). Pediatric fpCD patients had a higher disease activity score and platelet count, lower serum albumin level, and a higher rate of granuloma in the biopsy samples, compared with non-fistulising patients. A considerably high rate of surgical interventions (i.e., seton placement 46% and abscess drainage 15%) was performed in combination with infliximab. CONCLUSION: Fistulising perianal Crohn's disease seems to be more common than previously reported in the pediatric age group. A severe course of the disease might serve as a warning for the development of fpCD. A careful physical examination and use of perianal MRI with a high index of suspicion may increase the likelihood of fistula detection, hence may change the treatment strategy.

Dysgenesis and Dysfunction of the Pancreas and Pituitary Due to FOXA2 Gene Defects.

CONTEXT: Developmental disorders of the pituitary gland leading to congenital hypopituitarism can either be isolated or associated with extrapituitary abnormalities (syndromic hypopituitarism). A large number of syndromic hypopituitarism cases are linked to mutations in transcription factors. The forkhead box A2 (FOXA2) is a transcription factor that plays a key role in the central nervous system, foregut, and pancreatic development. OBJECTIVE: This work aims to characterize 2 patients with syndromic hypopituitarism due to FOXA2 gene defects. RESULTS: We report a novel heterozygous nonsense c.616C > T(p.Q206X) variant that leads to a truncated protein that lacks part of the DNA-binding domain of FOXA2, resulting in impaired transcriptional activation of the glucose transporter type 2 (GLUT2)-luciferase reporter. The patient is the sixth patient described in the literature with a FOXA2 mutation, and the first patient exhibiting pancreatic hypoplasia. We also report a second patient with a novel de novo 8.53 Mb deletion of 20p11.2 that encompasses FOXA2, who developed diabetes mellitus that responded to sulfonylurea treatment. CONCLUSION: Our 2 cases broaden the molecular and clinical spectrum of FOXA2-related disease, reporting the first nonsense mutation and the first case of pancreatic dysgenesis.

Gastrointestinal sarcoidosis presenting with malabsorption at an early age.

Sarcoidosis is a chronic multisystemic granulomatous disease that predominantly involves the thoracic lymph nodes and lungs and primarily occurs in young adults. Isolated extrapulmonary localization is uncommon in adults, and exceptionally rare in the pediatric age group. A 4-year-old male patient with chronic diarrhea and abdominal distention for the last 8 months is presented. Endoscopic biopsies, obtained during gastroscopy and colonoscopy, revealed noncaseating granulomas in all segments of the gastrointestinal tract. A noncaseating granuloma was also demonstrated in the liver biopsy. Granulomatous inflammation of both the gastrointestinal system and liver along with elevated serum angiotensin-converting enzyme were consistent with sarcoidosis. The peculiarity of our pediatric sarcoidosis was the involvement of whole gastrointestinal system, which is exceptionally rare in all age groups. Furthermore, this is the youngest case in the literature with gastrointestinal and hepatic sarcoidosis in the absence of pulmonary involvement at onset.

Preparatory information reduces gastroscopy-related stress in children as confirmed by salivary cortisol.

BACKGROUND/AIMS: This study aimed to determine whether the anxiety levels of pediatric patients who undergo endoscopy are reduced after receiving preparatory information about the endoscopic procedure by monitoring their salivary cortisol (s-cortisol) levels. PATIENTS AND METHODS: A total of 184 children undergoing gastroscopy under sedoanalgesia were included in the study. All the patients received a brief explanation of the endoscopic procedure. Patients were divided into two groups; Group Unexplained did not receive any further information other than a brief explanation of the procedure, Group Explained received more detailed explanation of the procedure. To determine anxiety levels, saliva specimens were taken on the day before the procedure to examine cortisol levels before and after endoscopy. Anxiety scores before endoscopy were calculated by the modified Yale Preoperative Anxiety Scale. Patients were monitored throughout sedoanalgesia, including during the endoscopy, sedation and recovery, and total propofol dosages were recorded. RESULTS: Eighty-nine children undergoing gastroscopy (age 11.55 ± 2.52 years; 50.5% girls) constituted Group Explained and 95 children undergoing gastroscopy (age 11.44 ± 2.66 years; 56.8% male) constituted Group Unexplained. The anxiety score, duration of sedation, endoscopy and recovery, propofol dose, pre- and post-endoscopy s-cortisol levels were significantly reduced in Group Explained. CONCLUSIONS: We demonstrated that when endoscopic procedure is explained broadly to a child, the procedural stress is significantly less, as measured by the s-cortisol levels and the anxiety questionnaire. It is important for the attending physician to explain all aspects of examination carefully.

Bowel Preparation for Colonoscopy in Children: 1 Day PEG-3350 with Bisacodyl versus 3 Day Sennosides.

BACKGROUND AND OBJECTIVES: Bowel preparation (BP) for colonoscopy is a challenging procedure in children and different regimens have been used for this purpose. Polyethylene glycol (PEG) is the most preferred agent in recent years. The primary aim of this study was to evaluate the efficacy of 1-day PEG-3350 with bisacodyl (PEG-B) and comparing it with 3-day sennosides A+B. METHOD: In this prospective, randomized, and single-blinded study, children aged 2-18 years were included in the PEG-B group for 1 day or in Senna group for 3 days. The effectiveness of BP was assessed according to the Ottawa and Boston BP scales, compliance and adverse effects were also recorded. Pre- and post-preparation biochemistry were obtained for investigation of safety of both regimens. RESULTS: Successful BP was observed in 88.3% (n = 53/60) of PEG-B and 86% (n = 55/64) of Senna groups according to Boston scale, and it was 85% (n = 51/60) and 84.4% (n = 54/64), respectively, according to Ottawa scale. The cecal intubation rate was 96.7% (n = 58/60) in the PEG-B group and 93.8% (n = 60/64) in the Senna group. Ease of administration and disturbance in regular daily activities was better in the PEG-B group (p < 0.05). There was no major adverse event and biochemical abnormality in both groups. The correlation between Ottawa and Boston scales was found to be excellent (r2 = -0.954, p < 0.01). CONCLUSIONS: The efficacy, safety, and adverse effect profile of 1-day BP with PEG-B regimen was found to be similar to 3-day sennosides regimen, however, the PEG-B regimen had advantages such as short duration, ease of administration, and better patient comfort. Also, high correlation rate between the Boston and Ottawa scales in pediatric patients was remarkable.

Anxiety and Salivary Cortisol Levels in Children Undergoing Esophago-Gastro-Duodenoscopy Under Sedation.

OBJECTIVES: Esophagogastroduodenoscopy (EGD) can cause fear and anxiety in children. Cortisol, which is the most important glucocorticoid hormone in humans, can increase under physiological stress. The purpose of this study was to measure the salivary cortisol level (SCL) and anxiety level in patients undergoing EGD and evaluate their effects on the procedure. METHODS: Children undergoing EGD under sedoanalgesia with propofol for various reasons were included. Their basal SCLs were compared with those of healthy age- and sex-matched controls. Moreover, SCL of the patient group at 30 minutes before EGD and 2 hours after the procedure were measured. Their anxiety scores were calculated using the modified Yale Preoperative Anxiety Scale before EGD. Duration of endoscopy, sedation, and recovery and total propofol doses were recorded. RESULTS: Demographic properties of the patient group (n = 119; 10.9 ±â€Š3.2 years; 43.7% boys) and control group (n = 85; 11.8 ±â€Š2.8 years; 45.1% boys) were not significantly different. Basal SCLs of both groups were similar (16.9 ±â€Š0.7 vs 19.7 ±â€Š1.8 ng/mL, P = 0.16). SCL before EGD in the patient group was significantly higher than basal and post-EGD values (P < 0.001 for each). Pre-EGD SCL was positively correlated with anxiety level, propofol dose, and duration of sedation, procedure, and recovery. Anxiety levels of patients were positively correlated with propofol dose and duration of sedation and recovery, and negatively correlated with age. CONCLUSIONS: Childhood EGD is a significant stress factor, which was reflected by the pre-procedural SCL in this study. Increased anxiety resulted in increased propofol doses and sedoanalgesia-related procedural durations, which may cause potential complications.

Sequential therapy versus standard triple therapy for Helicobacter pylori eradication in children: any advantage in clarithromycin-resistant strains?

OBJECTIVE: There has been a marked decrease in the eradication rates of Helicobacter pylori infection with standard triple therapy worldwide. Hence, sequential therapy has gained attention as a promising treatment during the last few years. This study was carried out to compare the efficacy of sequential versus standard triple therapy in the context of clarithromycin (CLA) resistance. MATERIALS AND METHODS: In this study, children between 3 and 18 years of age, who had documented H. pylori infection, were randomized to receive either standard triple or sequential therapy. H. pylori eradication was ascertained using the C-urea breath test 4-6 weeks after the completion of the treatment. Real-time PCR was performed on gastric biopsy samples for assessment of CLA resistance. RESULTS: In all, 148 children (median age: 12.18±3.51 years) were recruited randomly into the study. The intention-to-treat eradication rates were 50% (37/74) for the sequential treatment group and 52.7% (39/74) for the standard triple treatment group (P=0.87). A total of 136 children completed the study. The per-protocol eradication rates were 56% (37/66) and 55.7% (39/70) for sequential and standard triple therapy groups, respectively. CLA resistance was assessed and 113 children were included in the final analysis. Of 113 participants, 53 were in the sequential treatment group and 60 were in the standard triple treatment group. The success rates of the respective therapies (29/53=54.7% in sequential, 33/60=55% in standard therapy) were similar (P=0.98). CLA resistance was detected in 29 (25.7%) of the patients. Eradication rates with sequential therapy in CLA susceptible and resistant cases were 60.5% (23/38) and 40% (6/15), respectively (P=0.23). The corresponding figures for the standard triple treatment group were 63% (29/46) and 28.6% (4/14) (P=0.033). Although a higher eradication rate was observed in CLA-resistant cases with sequential therapy, the difference did not reach statistical significance (P=0.69). CONCLUSION: In this study, standard triple treatment failed to eradicate H. pylori infection in the majority of the children, and sequential therapy offered only a small advantage over standard triple therapy in the eradication of CLA-resistant strains.