Clinical findings of patients with cystic fibrosis according to newborn screening results.

BACKGROUND: Cystic fibrosis (CF) is a lethal recessive genetic disease caused by loss of function associated with mutations in the CF trans-membrane conductance regulator. It is highly prevalent (approximately 1 in 3,500) in Caucasians. The aim of this study was to compare demographic and clinical features, diagnostic tests, treatments, and complications of patients with CF whose newborn screening (NBS) with twice-repeated immune reactive trypsinogen testing was positive, normal, and not performed. METHODS: In this study, 359 of all 1,488 CF patients recorded in the CF Registry of Turkey in 2018, who had been born through the process of NBS, were evaluated. Demographic and clinical features were compared in patients diagnosed with positive NBS (Group 1), normal (Group 2), or without NBS (Group 3). RESULTS: In Group 1, there were 299 patients, in Group 2, there were 40 patients, and in Group 3, there were 20 patients. Among all patients, the median age at diagnosis was 0.17 years. The median age at diagnosis was higher in Groups 2 and 3 than in Group 1 (P = 0.001). Fecal elastase results were higher in Group 2 (P = 0.033). The weight z-score was lower and chronic Staphylococcus aureus infection was more common in Group 3 (P = 0.017, P = 0.004, respectively). CONCLUSIONS: Frequency of growth retardation and chronic S. aureus infection can be reduced with an early diagnosis using NBS. In the presence of clinical suspicion in patients with normal NBS, further analyses such as genetic testing should be performed, especially to prevent missing patients with severe mutations.

COmparisoN of TastES of Available NutriTional integrated or non-integrated formulas for infants older than 1 year of age with cow's milk allergy: A multicenter, prospective, single blind, cross-sectional observational clinical study (CONTEST Study).

Palatability of the infant formulas lacking cow milk protein formulas is reported by parents to be an important drawback. The purpose of this study is to examine decisions made by mothers of infants having cow milk protein allergy, and physicians concerning the palatability of unflavored extensively hydrolyzed formulas and amino acid-based formulas. We conducted a multi-center, randomized, single-blinded, observational taste study involving 149 pediatricians from gastroenterology and allergy subspecialties at 14 tertiary healthcare units from different regions of Turkey and involving 94 mothers of infants with cow milk protein allergy. Blinding was performed for seven formulas available in the market, which were the most commonly prescribed for feeding: four AAFs (Neocate-Numil®, Aptamil Pregomin AS-Numil®, Alfamino-Nestle®, Comidagen-Mamma®), one AAF specifically designed to address the growing nutritional and lifestyle needs of children >1 year (Neocate Junior-Numil®), 2 eHFs (Bebelac Pepti Junior-Numil®, Similac Alimentum-Abott®). Considering all three formula characteristics, Neocate junior-Numil® ranked as the number 1 product among seven products by mothers (63.8%) and physicians (69.8%). The ratings of mothers were significantly higher than the physicians (8.1 points and 6.1 points, respectively; p < 0.001). No difference was found in terms of taste, smell, and appearance for Neocate junior-Numil® between the mothers' and physicians' ratings. Since caregivers have responsibility for careful selection of replacement products for infants with cow milk protein allergy, it is noteworthy that increased awareness and confidence in the palatability characteristics of these products should motivate mothers and physicians to comply with replacement treatment in the long term.

Can Point Shear Wave Elastography Be Used as an Early Indicator of Involvement?: Evaluation of the Pancreas and Liver in Children With Cystic Fibrosis.

OBJECTIVES: The aim of this study was to determine the effect of cystic fibrosis (CF) on pancreas and liver elasticity in young children using point shear wave elastography and to determine the relationship with clinical findings. METHODS: Twenty-two patients with genetically proven CF, who were admitted to our pediatric gastroenterology clinic, and 22 healthy control participants were enrolled in the study. The shear wave velocity (SWV) of the liver and pancreas were measured with point shear wave elastography. RESULTS: The 22 patients with CF included 45.5% girls with a mean age ± SD of 35 ± 35.8 months (range, 5-123 months). The 22 healthy control participants included 41.2% girls with a mean age of 58.9 ± 44.4 months (range, 2-159 months). The mean SWV of the pancreas in the patients with CF (1.06 ± 0.26 m/s) was significantly higher than that of the healthy control participants (0.85 ± 0.23 m/s; P = .01). The mean SWV of the liver in the patients with CF (1.46 ± 0.24 m/s) was significantly higher than that of the healthy control participants (1.12 ± 0.21 m/s; P = .001). The SWV of the pancreas and liver did not show any significant differences depending on ursodeoxycholic acid use, malnutrition status, and the presence of the F508 deletion mutation. CONCLUSIONS: This study showed an increased SWV of the pancreas in children with CF, contrary to the literature. We also found an increased liver SWV even in the absence of CF-related liver disease. Ultrasound elastography may be a useful method of evaluating early changes in the pancreas and liver before the obvious clinical, laboratory, and B-mode ultrasound signs of CF-related involvement.

Gallbladder Polyps: Rare Lesions in Childhood.

OBJECTIVE: Unlike adults, gallbladder polyps (GPs) are rare in childhood. The aim of this study was to evaluate patients with a GP diagnosis. METHODS: Patients who were diagnosed with GP via ultrasonography from October 2012 to October 2017 were retrospectively evaluated in terms of sociodemographic characteristics and laboratory findings. RESULTS: The study included 19 patients diagnosed with GP and followed up in our department. The patients comprised 14 (73.6%) girls with a mean age of 13.9 ±â€Š4.1 years and a mean follow-up period of 10.2 ±â€Š5.4 months (range, 3-26 months). The most common presenting symptom of the patients (n = 15, 78.9%) for ultrasonography was abdominal pain without biliary symptoms. Location of the polyps was in the corpus in 55% of patients, and either in the fundus (20%) or the neck of the gallbladder (25%). The average diameter of the polyps was 4.5 ±â€Š1.6 mm (range, 2-9 mm). Multiple polyps were observed in 3 patients. No significant change in the number or size of polyps was noted at the end of the follow-up periods. Cholecystectomy was applied to 1 patient who had >5 polyps with a rapid increase in size, and the pathology report was hamartomatous polyp. There was no remarkable change in the clinical or laboratory findings of other patients during the follow-up period. CONCLUSION: In this study, GPs could be seen in young children as young as 16 months of age and ultrasonography is sufficient for follow-up in stable and asymptomatic patients.

Fecal calprotectin in children with familial Mediterranean fever in the attack-free period.

BACKGROUND: Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurrent episodes of fever and serosal inflammation. The aim of this study was to evaluate fecal calprotectin (FC) in children with FMF during the non-attack period. METHODS: A retrospective evaluation was made of the data of a total 66 patients diagnosed with FMF in an attack-free period and without amyloidosis or inflammatory bowel disease (IBD). FC level in the FMF patients was compared with that in the patients with IBD and healthy control subjects. RESULTS: The FMF patients consisted of 37 boys (56.1%) with a mean age of 10.1 ± 3.9 years. Mean FC was 192.5 µg/g (range, 19.5-800 µg/g) in the FMF group, 597.9 µg/g (range, 180-800 µg/g) in the IBD group, and 43.8 µg/g (range, 19.5-144 µg/g) in the control group. The FC level in the children with FMF was higher than in the control group (P < 0.001), and the FC level of the IBD patients was higher than both the FMF and the control groups (P = 0.020, P < 0.001, respectively). CONCLUSIONS: FC was higher in FMF patients compared with healthy children even in the absence of IBD/amyloidosis. Even though colonoscopy is the gold standard in identifying intestinal inflammation in FMF patients, FC, a non-invasive and inexpensive method, can be used for screening. The presence of subclinical intestinal inflammation was also quantitatively identified in children with FMF.

Role of Point Shear Wave Elastography in the Determination of the Severity of Fibrosis in Pediatric Liver Diseases With Pathologic Correlations.

OBJECTIVES: Our aims in this study were as follows: (1) to determine the cutoff value that can distinguish between advanced liver fibrosis and normal liver tissue for two different elastographic techniques; (2) to determine the cutoff value that can distinguish mild liver fibrosis from normal liver tissue for the techniques; and (3) to assess tissue stiffness in nonalcoholic fatty liver disease (NAFLD). METHODS: Seventy-five patients assessed for liver biopsy on the same day were evaluated by point shear wave elastography. Thirty-one healthy children and 11 children with NAFLD were also evaluated. A 9L4 transducer with Virtual Touch quantification (VTQ) and Virtual Touch imaging and quantification (VTIQ) modes (Siemens Medical Solutions, Mountain View, CA) was used for quantification. RESULTS: The shear wave speed of the patients with NAFLD was higher than that of the control group. The only predictive factor for VTQ and VTIQ was the histologic fibrosis score (model-adjusted R2 = 0.56 for VTQ and 0.75 for VTIQ). Shear wave speed cutoffs were 1.67 m/s for VTQ and 1.56 m/s for VTIQ in detecting fibrosis or inflammation and 2.09 m/s for VTQ and 2.17 m/s for VTIQ in discriminating children with low and high histologic liver fibrosis scores. CONCLUSIONS: The VTQ and VTIQ values reveal high-grade histopathologic fibrosis and have high success rates when distinguishing high- from low-grade fibrosis. However, they have limited success rates when differentiating low-grade fibrosis from normal liver tissue.

Assessment of Endothelial Dysfunction With Adhesion Molecules in Patients With Celiac Disease.

OBJECTIVES: Celiac disease (CD) is a systemic immune disorder. We assessed serum levels of adhesion molecules as a marker of endothelial dysfunction in patients with CD at first diagnosis and in those on a gluten-free diet. METHODS: Sixty-five patients with CD (mean age 6.74 ±â€Š4.6 years) and 51 age- and sex-matched control patients participated in the present case-controlled, prospective clinical study. Serum levels of vascular adhesion molecule-1, intercellular adhesion molecule-1, endothelial selectin, vascular endothelial cadherin, high-sensitivity C-reactive protein, and homocysteine levels were measured. RESULTS: Average soluble vascular adhesion molecule-1 (CD vs control group: 1320 ±â€Š308 vs 1120 ±â€Š406 ng/mL, P = 0.006), soluble intercellular adhesion molecule-1 (336 ±â€Š99 vs 263 ±â€Š67 ng/mL, P = 0.025), and soluble endothelial selectin (113.9 ±â€Š70 vs 76.9 ±â€Š32 ng/mL, P = 0.007) levels were significantly higher in cases of newly diagnosed CD than in the control group. Soluble vascular adhesion molecule-1 (1050 ±â€Š190 ng/mL) and soluble endothelial selectin (68.7 ±â€Š45 ng/mL) levels in patients with CD, who were fully compliant with a gluten-free diet, were significantly lower than that in those newly diagnosed as having CD (P = 0.003 and P = 0.0012, respectively). CONCLUSIONS: These results show that serum adhesion molecule levels are higher in patients with CD. Some of the risks associated with endothelial dysfunction may be related to CD and these risks can be reduced with an appropriate and fully controlled diet.

Comparison of clinical features of cystic fibrosis patients eligible but not on CFTR modulators to ineligible for CFTR modulators.

INTRODUCTION: Cystic fibrosis transmembrane conductance regulator (CFTR) modulator drugs target the underlying defect and improve CFTR function. They are a part of standard care in many countries, but not all patients are eligible for these drugs due to age and genotype. Here, we aimed to determine the characteristics of non-eligible patients for CFTR modulators in the CF registry of Turkey (CFRT) to highlight their clinical needs. METHODS: This retrospective cohort study included CF patient data from the CFRT in 2021. The decision of eligibility for the CFTR modulator was determined according to the 'Vertex treatment-Finder' on the Vertex® website. Demographic and clinical characteristics of patients were compared between eligible (group 1) and ineligible (group 2) groups for CFTR modulators. RESULTS: Among the study population (N = 1527), 873 (57.2%) were in group 1 and 654 (42.8%) were in group 2. There was no statistical difference between groups regarding sex, meconium ileus history, diagnoses via newborn screening, FEV1 z-score, CF-associated complications, organ transplant history, and death. Patients in group 2 had a higher incidence of pancreatic insufficiency (87.7% vs. 83.2%, p = .010), lower median height z-scores (-0.87 vs. -0.55, p < .001), lower median body mass index z-scores (-0.65 vs. -0.50, p < .001), longer days receiving antibiotics due to pulmonary exacerbation (0 [interquartile range, IQR: 0-2] vs. 0 [IQR: 0-7], p = 0.001), and more non-invasive ventilation support (2.6% vs. 0.9%, p = 0.008) than patients in group 1. CONCLUSION: The ineligible group had worse clinical outcomes than the eligible group. This highlights their need for life-changing drugs to improve clinical outcomes.

The frequency of Duchenne muscular dystrophy/Becker muscular dystrophy and Pompe disease in children with isolated transaminase elevation: results from the observational VICTORIA study.

Introduction: Elevated transaminases and/or creatine phosphokinase can indicate underlying muscle disease. Therefore, this study aims to determine the frequency of Duchenne muscular dystrophy/Becker muscular dystrophy (DMD/BMD) in male children and Pompe disease (PD) in male and female children with isolated hypertransaminasemia. Methods: This multi-center, prospective study enrolled patients aged 3-216 months with serum alanine transaminase (ALT) and/or aspartate transaminase (AST) levels >2× the upper limit of normal (ULN) for ≥3 months. Patients with a known history of liver or muscle disease or physical examination findings suggestive of liver disease were excluded. Patients were screened for creatinine phosphokinase (CPK) levels, and molecular genetic tests for DMD/BMD in male patients and enzyme analysis for PD in male and female patients with elevated CPK levels were performed. Genetic analyses confirmed PD. Demographic, clinical, and laboratory characteristics of the patients were analyzed. Results: Overall, 589 patients [66.8% male, mean age of 63.4 months (standard deviation: 60.5)] were included. In total, 251 patients (188 male and 63 female) had CPK levels above the ULN. Of the patients assessed, 47% (85/182) of male patients were diagnosed with DMD/BMD and 1% (3/228) of male and female patients were diagnosed with PD. The median ALT, AST, and CPK levels were statistically significantly higher, and the questioned neurological symptoms and previously unnoticed examination findings were more common in DMD/BMD patients than those without DMD/BMD or PD (p < 0.001). Discussion: Questioning neurological symptoms, conducting a complete physical examination, and testing for CPK levels in patients with isolated hypertransaminasemia will prevent costly and time-consuming investigations for liver diseases and will lead to the diagnosis of occult neuromuscular diseases. Trial Registration: Clinicaltrials.gov NCT04120168.

Clinical characteristics of patients requiring lung transplantation referral in national cystic fibrosis registry data.

BACKGROUND: We aimed to determine the number of cystic fibrosis (CF) patients recorded in the Cystic Fibrosis Registry of Türkiye (CFRT) who were in need of lung transplantation (LT) referral and examine clinical differences between patients who were LT candidates due to rapid forced expiratory volume in one second (FEV1) decline and LT candidates without rapid FEV1 decline in the last year to identify a preventable cause in patients with such rapid FEV1 decline. METHODS: All CF patients recorded in the CFRT in 2018 were evaluated in terms of LT. Patients were divided into those with FEV1 below 50% and in need of LT due to a decrease of 20% or more in the previous year (Group 1) and those who did not have FEV1 decline of more than 20% in the previous year but had other indications for LT (Group 2). Demographic and clinical features were compared between the two groups. RESULTS: Of 1488 patients registered in CFRT, 58 had a need for LT. Twenty patients were included in Group 1 and others in Group 2. Our findings did not reveal any significant variations in treatment, chronic infection status, or complications between the two groups. The average weight z-score was significantly higher in Group 1. Positive correlations were detected between weight z-score and FEV1 in 2017 in Group 1 and between FEV1 values in 2017 and 2018 in Group 2. CONCLUSIONS: There appears to be a relationship between the nutritional status and weight z-scores of CF patients and pulmonary function, which may indirectly affect the need for lung transplantation referral.

Patients with cystic fibrosis who could not receive the CFTR modulator treatment: What did they lose in 1 year?

BACKGROUND: Cystic fibrosis (CF) is an autosomal recessive disorder caused by CF transmembrane conductance regulator (CFTR) genetic variants. CFTR modulators improve pulmonary function and reduce respiratory infections in CF. This study investigated the clinical and laboratory follow-up parameters over 1 year in patients with CF who could not receive this treatment. METHODS: This retrospective cohort study included 2018 and 2019 CF patient data from the CF registry of Turkey. Demographic and clinical characteristics of 294 patients were assessed, who had modulator treatment indications in 2018 but could not reach the treatment. RESULTS: In 2019, patients younger than 18 years had significantly lower BMI z-scores than in 2018. During the 1-year follow-up, forced expiratory volumes (FEV1) and FEV1 z-scores a trend toward a decrease. In 2019, chronic Staphylococcus aureus colonization, inhaled antipseudomonal antibiotic use for more than 3 months, oral nutritional supplement requirements, and oxygen support need increased. CONCLUSIONS: Patients who had indications for modulator treatments but were unable to obtain them worsened even after a year of follow-up. This study emphasized the importance of using modulator treatments for patients with CF in our country, as well as in many countries worldwide.

Nutritional characteristic of children with inflammatory bowel disease in the nationwide inflammatory bowel disease registry from the Mediterranean region.

BACKGROUND/OBJECTIVES: We analyzed the nationwide pediatric inflammatory bowel disease (PIBD) registry (1998-2016), to evaluate the nutritional status at the time of diagnosis. SUBJECTS/METHODS: Nine types of nutritional status by the combination of weight-for-length (<2 years)/body mass index (>2 years) and length/height-for-age with three categories (<-2, -2 to 2, and >2 SD) were described. Malnutrition was defined by WHO criteria. Univariate and multivariate regression analysis was used to identify risk factors for malnutrition. RESULTS: In total, 824 IBD patients (498 Ulcerative colitis (UC); 289 Crohn's Disease (CD); 37 Indeterminate Colitis (IC); 412 male; the median age 12.5 years) were eligible. The prevalence of eutrophy, wasting/thinness, stunting, overweight, tall stature, concurrent wasting/thinness and stunting, tall stature with overweight, tall stature with wasting/thinness, and short stature with overweight were 67.4%, 14.9%, 6.6%, 3.1%, 3.2%, 3.3%, 1.1%, 0.4%, and 0.1%, respectively. The prevalence of malnutrition was 32.7%, indicating a higher prevalence in CD (p < 0.001). Incidence of overweight was less common in the CD than UC and IC (p < 0.001). Multivariate analysis revealed that age of onset (>10 years), prepubertal stage, severe disease activity, perianal involvement, and high C reactive protein level were independently associated with malnutrition in pediatric IBD. CONCLUSION: We showed the frequency of nutritional impairment in PIBD. The percentage of overweight subjects was lower than the other studies. The age of onset, disease activity, CRP level, perianal involvement, and pubertal stage were associated with a higher risk for developing malnutrition. Our results also confirmed that CD patients are particularly vulnerable to nutritional impairment. CLINICAL TRIAL NUMBER: ClinicalTrials.gov Identifier: NCT04457518.

The success of the Cystic Fibrosis Registry of Turkey for improvement of patient care.

BACKGROUND: Cystic fibrosis (CF) registries play an essential role in improving disease outcomes of people with CF. This study aimed to evaluate the association of newly established CF registry system in Turkey on follow-up, clinical, growth, treatment, and complications of people with this disease. METHODS: Age at diagnosis, current age, sex, z-scores of weight, height and body mass index (BMI), neonatal screening results, pulmonary function tests, history of meconium ileus, medications, presence of microorganisms, and follow-up were evaluated and compared to data of people with CF represented in both 2017 and 2019 registry data. RESULTS: There were 1170 people with CF in 2017 and 1637 in 2019 CF registry. Eight hundred and fourteen people were registered in both 2017 and 2019 of whom z-scores of heights and BMI were significantly higher in 2019 (p = 0.002, p =0.039, respectively). Inhaled hypertonic saline, bronchodilator, and azithromycin usages were significantly higher in 2019 (p =0.001, p = 0.001, p = 0.003, respectively). The percent predicted of forced expiratory volume in 1 sec and forced vital capacity were similar in 2017 and 2019 (88% and 89.5%, p = 0.248 and 84.5% and 87%, p =0.332, respectively). Liver diseases and osteoporosis were significantly higher, and pseudo-Bartter syndrome (PBS) was significantly lower in 2019 (p = 0.011, p = 0.001, p = 0.001, respectively). CONCLUSIONS: The z-scores of height and BMI were higher, the use of medications that protect and improve lung functions was higher and incidence of PBS was lower in 2019. It was predicted that registry system increased the care of people with CF regarding their follow-up. The widespread use of national CF registry system across the country may be beneficial for the follow-up of people with CF.

Comparing Different Techniques in Children With or Without a Simultaneous Fundoplication: Does the Gastrostomy Technique Matter?

Purpose: To evaluate the results of different gastrostomy techniques and the impact of simultaneous fundoplication. Materials and Methods: The patients who underwent a gastrostomy procedure between 2009 and 2019 in a single tertiary center were evaluated retrospectively. The patients are divided into groups depending on the gastrostomy techniques as open gastrostomy (OG), laparoscopic gastrostomy (LG), percutaneous endoscopic gastrostomy (PEG), and laparoscopy-assisted PEG (LAPEG). Preoperative characteristics and postoperative outcomes are compared among the groups. Results: Two hundred forty-four patients (75, 60, 91, and 18 patients in OG, LG, PEG, and LAPEG groups, respectively) are enrolled in the study. Although rates of minor or major complications did not demonstrate a significant difference among the groups, no major complications were encountered in the LAPEG group, while the lowest minor complications were observed in the PEG group (P > .05). Length of postoperative initiation of enteral feeding and length of hospital stay (LOS) were highest in the OG group (P = .000). Performing a concurrent fundoplication procedure significantly delayed the initiation of enteral feeding and increased the LOS in all of the groups (P < .005). Conclusions: Although PEG is a safe and reproducible technique of gastrostomy in selected patients, LAPEG may expand the boundaries of PEG by reducing the major complication rates. Although simultaneous fundoplication may complicate the perioperative period, it does not have significance on outcomes.

Fecal calprotectin levels used as a noninvasive method for screening for chronic gastritis in pediatric patients. A descriptive study.

BACKGROUND: Gastritis consists of inflammation of the gastric mucosa and is one of the main causes of dyspeptic symptoms in children. OBJECTIVE: To investigate the presence of inflammation by evaluating fecal calprotectin (FC) in children diagnosed with chronic gastritis. DESIGN AND SETTING: Descriptive study in Pediatric Gastroenterology Department of Ondokuz Mayis University Hospital in Turkey. METHODS: Between January 2016 and July 2018, FC levels were compared retrospectively in children with chronic gastritis (histopathology-based diagnosis), patients with inflammatory bowel disease (IBD) and healthy children. RESULTS: A total of 67 chronic gastritis patients (61.2% girls) with a mean age of 13.09 ± 3.5 years were evaluated. The mean FC levels were 153.4 µg/g in the chronic gastritis group, 589.7 µg/g in the IBD group and 43.8 µg/g in the healthy group. These levels were higher in chronic gastritis patients than in healthy individuals (P = 0.001) and higher in IBD patients than in the other two groups (P < 0.001). The FC level in the patients with chronic active gastritis (156.3 µg/g) was higher than in those with chronic inactive gastritis (150.95 µg/g) (P = 0.011). Among the patients with chronic active gastritis, the FC level was significantly higher in Helicobacter pylori-positive individuals than in negative individuals (P = 0.031). CONCLUSION: We confirmed the association between increased FC and chronic gastritis. Elevated FC levels may be seen in patients with chronic active gastritis. In order to be able to use FC as a screening tool for chronic gastritis, further studies in a larger study group are needed.

Endoscopic Ultrasonography in Pediatric Patients with Pancreatobiliary Disease: Single-Center Trial.

PURPOSE: The use of Endoscopic ultrasonography (EUS) in pediatric patients is not as common as in adults. The aim of this study is to evaluate the role of EUS in the diagnosis of pancreatobiliary disease in childhood. METHODS: Between December 2016 and January 2018, the findings of patients who underwent EUS were evaluated retrospectively. RESULTS: Of the 41 patients included in the study 25 were girls (61.0%), mean age was 12.2±4.2 years. EUS was performed for biliary colic in 21 (51.2%), for recurrent pancreatitis in 12 (29.2%), for cholecystitis/cholangitis in 5 (12.2%), and for acute pancreatitis in 3 (7.4%) patients. EUS had a significant clinical effect in the decision of treatment and follow-up of 6/21 biliary colic cases, in diagnosis and follow-up of 6/12 recurrent pancreatitis cases, in decision-making and monitoring of invasive procedures (ERCP/surgery) of 3/5 acute cholecystitis/cholangitis and 2/3 of acute pancreatitis cases as well as in follow-up of the other cases. The effectiveness of EUS in determining direct treatment and invasive intervention was 43.9%. None of the patients had complications related to the EUS procedure. CONCLUSION: Although current guidelines show that EUS can be used in pediatric patients, this is limited to a few published studies. In this study, it is shown that EUS is a safe method for the diagnosis, follow-up and treatment of common pancreatobiliary pathologies in childhood.

Pre- and Postgastrostomy Evaluation of Gastroesophageal Reflux in Children Using 24-Hour pH Monitoring.

Background: The aim of this study was to evaluate 24-hour pH monitoring results before and after gastrostomy in neurological impaired (NI) children who underwent gastrostomy or Nissen fundoplication (NF) concurrently with gastrostomy. Materials and Methods: Between March and December 2018, NI patients who had previously received pre- and postgastrostomy (Group 1) or gastrostomy + NF (Group 2) underwent pH monitoring pre- and postoperatively. Results: Twenty patients [12 males (60%) and the median age of 5.6 (14 months-14.7 years) years] with NI were followed up during the study period. When pre- and postgastrostomy weight and BMI z-scores were compared, the results were significantly higher in both groups after procedure (P = .043, P = .040, respectively). The clinical results of the patients after the operation showed improvement in both groups. The pH index of Group 1 (n = 11) was 2.32 (0-3.8) before gastrostomy and 3.18 (2.1-6.9) after gastrostomy (P = .061) and in Group 2 (n = 9) it was 5.85 (4.9-15.8) and 0.61 (0.3-1.3), before and after procedure (P < .001). There was a statistically significant difference in reflux index of each group. This difference was not statistically significant between the groups (P = .072). When the total bolus exposure index was compared, it was 4.01 (2.1-5.2) before gastrostomy and 5.67 (4.6-6.3) after gastrostomy in Group 1 (P = .041). In group 2, that index was found to be 9.8 (8.3-10.2) before and 1.28 (0.5-1.4) after (P < .001). There was a statistically significant difference in index after gastrostomy in Groups 1 and 2 (P = .023). Conclusions: Gastrostomy feeding is an effective and safe option to achieve enteral feeding in NI children. NF concurrent with gastrostomy should be decided according to the individual patient. Clinical trials protocol registration ID number was PRS NCT00445112.

Familial Mediterranean Fever Mutation Analysis in Pediatric Patients With Inflammatory Bowel Disease: A Multicenter Study.

BACKGROUND: The aim of the study was to evaluate familial Mediterranean fever (FMF) mutation analysis in pediatric patients with inflammatory bowel disease (IBD). The relation between MEFV mutations and chronic inflammatory diseases has been reported previously. METHODS: Children with IBD (334 ulcerative colitis (UC), 224 Crohn's disease (CD), 39 indeterminate colitis (IC)) were tested for FMF mutations in this multicenter study. The distribution of mutations according to disease type, histopathological findings, and disease activity indexes was determined. RESULTS: A total of 597 children (mean age: 10.8 ± 4.6 years, M/F: 1.05) with IBD were included in the study. In this study, 41.9% of the patients had FMF mutations. E148Q was the most common mutation in UC and CD, and M694V in IC (30.5%, 34.5%, 47.1%, respectively). There was a significant difference in terms of endoscopic and histopathological findings according to mutation types (homozygous/ heterozygous) in patients with UC (P < .05). There was a statistically significant difference between colonoscopy findings in patients with or without mutations (P = .031, P = .045, respectively). The patients with UC who had mutations had lower Pediatric Ulcerative Colitis Activity Index (PUCAI) scores than the patients without mutations (P = .007). CONCLUSION: Although FMF mutations are unrelated to CD patients, but observed in UC patients with low PUCAI scores, it was established that mutations do not have a high impact on inflammatory response and clinical outcome of the disease.

Association of obesity and non-alcoholic fatty liver disease with the fecal calprotectin level in children.

BACKGROUND AND STUDY AIMS: As the prevalence of obesity increased, obesity-related comorbidities such as non-alcoholic fatty liver disease (NAFLD) also increased. The aim of this study is to investigate the presence of intestinal inflammation by evaluating the faecal calprotectin (FC) level in children with obesity and NAFLD and to determine the factors affecting the FC level. PATIENTS AND METHODS: Between August 2018 and November 2018, the FC levels of obese patients (Group 1a = NAFLD (n = 30) and 1b = without NAFLD (n = 30)) were prospectively compared to that of healthy children (Group 2, n = 20). Patients with BMI > 2 z-score were considered obese. NAFLD was identified with liver contrast and brightness on ultrasound. RESULTS: Of the patients included in this study, 50 were male (62.5%), with a mean age of 11.4 ± 3.1 years. The mean FC levels were 121.6 ± 24.8 µg/g (19.5-800) in Group 1 (Group 1a = 128.4 and Group 1b = 84.5) and 43.8 ± 25.4 µg/g (19.5-144) in Group 2. In comparison, the FC levels were higher in Group 1. This difference was more significant when compared with Group 1a than with Group 2 (p = 0.018 and p = 0.007, respectively). When the FC levels of Group 1 (above 50) were compared to lower levels, the weight, BMI, waist circumference and waist circumference/height values were significantly higher (p = 0.006, p = 0.028, p = 0.035 and p = 0.026, respectively). CONCLUSION: The FC level increased as a sign of intestinal inflammation in obese and NAFLD patients. This is directly proportional to the weight, waist circumference and waist-to-height ratio. It is thought that FC, which is easily applicable and an inexpensive biomarker, can be used safely in demonstrating the presence of intestinal inflammation in obese children.

Clinical features and accompanying findings of Pseudo-Bartter Syndrome in cystic fibrosis.

BACKGROUND: Pseudo-Bartter syndrome (PBS) is a rare complication of cystic fibrosis (CF) and there are limited data in the literature about it. We aimed to compare clinical features and accompanying findings of patients with PBS in a large patient population. METHODS: The data were collected from the Cystic Fibrosis Registry of Turkey where 1170 CF patients were recorded in 2017. Clinical features, diagnostic test results, colonization status, complications, and genetic test results were compared in patients with and without PBS. RESULTS: Totally 1170 patients were recorded into the registry in 2017 and 120 (10%) of them had PBS. The mean age of diagnosis and current age of patients were significantly younger and newborn screening positivity was lower in patients with PBS (P < .001). There were no differences between the groups in terms of colonization status, mean z-scores of weight, height, BMI, and mean FEV1 percentage. Types of genetic mutations did not differ between the two groups. Accompanying complications were more frequent in patients without PBS. CONCLUSION: PBS was detected as the most common complication in the registry. It could be due to warm weather conditions of our country. It is usually seen in younger ages regardless of mutation phenotype and it could be a clue for early diagnosis of CF.