Growth, tolerance and safety outcomes with use of an extensively hydrolyzed casein-based formula in infants with cow's milk protein allergy.

Objective: To evaluate growth, tolerance and safety outcomes with use of an extensively hydrolyzed casein-based formula (eHCF) in infants with cow's milk protein allergy (CMPA). Methods: A total of 226 infants (mean ± SD age: 106.5 ± 39.5 days, 52.7% were girls) with CMPA who received eHCF comprising at least half of the daily dietary intake were included. Data on anthropometrics [weight for age (WFA), length for age (LFA) and weight for length (WFL) z-scores] were recorded at baseline (visit 1), while data on infant feeding and stool records, anthropometrics and Infant Feeding and Stool Patterns and Formula Satisfaction Questionnaires were recorded at visit 2 (on Days 15 ± 5) and visit 3 (on Days 30 ± 5). Results: From baseline to visit 2 and visit 3, WFA z-scores (from -0.60 ± 1.13 to -0.54 ± 1.09 at visit 2, and to -0.44 ± 1.05 at visit 3, p < 0.001) and WFL z-scores (from -0.80 ± 1.30 to -0.71 ± 1.22 at visit 2, and to -0.64 ± 1.13 at visit 3, p = 0.002) were significantly increased. At least half of infants never experienced irritability or feeding refusal (55.7%) and spit-up after feeding (50.2%). The majority of mothers were satisfied with the study formula (93.2%), and wished to continue using it (92.2%). Conclusions: In conclusion, eHCF was well-accepted and tolerated by an intended use population of infants ≤ 6 months of age with CMPA and enabled adequate volume consumption and improved growth indices within 30 days of utilization alongside a favorable gastrointestinal tolerance and a high level of parental satisfaction.

Johanson-Blizzard's Syndrome with a Novel UBR1 Mutation.

Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive genetic disorder, characterized by exocrine pancreatic insufficiency, a distinct abnormal facial appearance and varying degrees of growth retardation. Ubiquitin protein ligase E3 component n-recognin 1 ( UBR1 ) gene mutations are responsible for the syndrome. Here, we describe a 2-month-old female infant, who presented with oily diarrhea, facial dysmorphia, scalp defect, hearing defects, and growth impairment. Molecular genetic testing revealed a novel frameshift mutation in UBR1 , c.4027_4028 del (p.Leu1343Valfs*7), which was not previously described in JBS in the literature.

Sacroiliac joint involvement in children with inflammatory bowel diseases.

Objective: Sacroiliitis (SI), an inflammatory arthropathy, may accompany pediatric inflammatory bowel diseases (IBDs), present with non- specific back pain, hence might be unnoticed. The aims of this study were to assess the frequency of the SI in children with IBD and determine the characteristics of the association of SI with the clinical hallmarks of the IBD. Methods: In this prospective, cross sectional study, twenty-seven children with IBD, 7-18 years of age were evaluated. Patients with low back pain or stiffness, alternating buttock pain, or hip pain were examined for the presence of SI. The radiologic manifestations on X-ray suggesting sacroilitis were confirmed with Magnetic resonance imaging (MRI). Results: Twenty-seven children (16 girls, female/male=1.45), with mean age of 12.55±3.6 years, of which 52% had ulcerative colitis (UC), 41% had Crohn's disease (CD), and two had indeterminate colitis (IC). The median time from IBD diagnosis was 6.0 (18.0) months for patients with SI and 12.0 (13.5) months for patients without SI. Low back pain or stiffness was observed in 13 patients (48%). SI was present in eight (30%) of the children with IBD. The patients with CD were more prone to SI (45% of CD vs. 21% of UC patients). All patients with SI were negative for HLA-B27 genotyping. The disease activity and gender were not associated with increased risk for SI. MRI was remarkable for bone marrow edema in all of the patient, followed by erosions in six of them (75%), synovial enhancement observed in five (63%), and erosion associated enthesitis of the pelvic region was observed in two (25%) of the patients. Conclusion: SI may remain obscured in children with IBD. Children with CD are more prone to SI than those with UC. Pediatric rheumatology-pediatric gastroenterology collaboration might augment screening in at-risk patients.

Enthesitis: an obscured extraintestinal manifestation in pediatric inflammatory bowel disease.

BACKGROUND: Enthesitis is an extra-intestinal manifestation of inflammatory bowel disease (IBD) which often remains underdiagnosed in children. We aimed to evaluate the frequency of enthesitis in pediatric IBD patients using physical examination and ultrasound (US) assessment as the reference standard. METHODS: 31 children, 7 -18 years of age, diagnosed with IBD were recruited for a cross-sectional study. All subjects completed a study questionnaire and underwent both physical and US examination for the presence of the enthesitis. RESULTS: Of 31 subjects (17girls; median age 14(6) years) enrolled, 17 (55%) had ulcerative colitis, 11 (35%) had Crohn`s disease, and 3 (10%) had indeterminate colitis. The median time from IBD diagnosis was 1.2 years. At least one enthesitis (range 1-4) was identified in 14 (45%) patients of whom nine had more than one enthesitis with symmetric involvement in eight. The quadriceps femoris insertion at the superior portion of the patella was the frequently involved site (32%, 9 of 28 sites), followed by patellar ligament insertion at tibial tuberositas. The presence of enthesitis was associated with a higher intensity of the musculoskeletal pain (p=0.018), but physical activity remained unaffected (p=0.056). CONCLUSIONS: Enthesitis is a common underestimated extra-intestinal manifestation of IBD that may impact the musculoskeletal health of children. Future studies with more extensive cohorts are needed to evaluate enthesial involvement both with physical examination and US in order to predict the long-term outcomes of the enthesitis on children with IBD.

The frequency of and factors affecting functional gastrointestinal disorders in infants that presented to tertiary care hospitals.

This study aimed to determine the prevalence of infantile functional gastrointestinal disorders (FGIDs) based on Rome IV diagnostic criteria, and to determine the associated patient demographic and nutritional characteristics. A total of 2383 infants aged 1-12 months which were evaluated by 28 general pediatricians and pediatric gastroenterologists on the same day at nine tertiary care hospitals around Istanbul, Turkey, between November 2017 and March 2018, were included in the study. Patients included consulted the pediatric outpatient clinics because of any complaints, but not for vaccines and/or routine well child follow-ups as this is not part of the activities in the tertiary care hospitals. The patients were diagnosed with FGIDs based on Rome IV diagnostic criteria. The patients were divided into a FGID group and non-FGID group, and anthropometric measurements, physical examination findings, nutritional status, risk factors, and symptoms related to FGIDs were evaluated using questionnaires. Among the 2383 infants included, 837 (35.1%) had ≥1 FGIDs, of which 260 (31%) had already presented to hospital with symptoms of FGIDs and 577 (69%) presented to hospital with other symptoms, but were diagnosed with FGIDs by a pediatrician. Infant colic (19.2%), infant regurgitation (13.4%), and infant dyschezia (9.8%) were the most common FGIDs. One FGID was present in 76%, and ≥2 FGIDs were diagnosed in 24%. The frequency of early supplementary feeding was higher in the infants in the FGID group aged ≤6 months than in the non-FGID group (P = 0.039).Conclusion: FGIDs occur quite common in infants. Since early diversification was associated with the presence of FGIDs, nutritional guidance and intervention should be part of the first-line treatment. Only 31% of the infants diagnosed with a FGID were presented because of symptoms indicating a FGID. What is Known: • The functional gastrointestinal disorders (FGIDs) are a very common disorder and affect almost half of all infants. • In infants, the frequency of FGIDs increases with mistakes made in feeding. When FGIDs are diagnosed in infants, nutritional support should be the first-line treatment. What is New: • This study shows that only a third of children presented to hospital because of the symptoms of FGIDs, but pediatricians were able to make the diagnosis in suspected infants after appropriate evaluation. • The early starting of complementary feeding (<6 months) is a risk factor for the development of FGIDs.

Significant improvement in bone mineral density in pediatric celiac disease: even at six months with gluten-free diet.

OBJECTIVES: Patients with celiac disease had significantly decreased bone mineral density even in patients with no gastrointestinal symptoms. Only few bone studies are available on pediatric patients with celiac disease. METHODS: Forty-six patients underwent measurement of areal bone mineral density (aBMD) by dual-energy X-ray absorptiometry (DXA) before the initiation of gluten-free diet. Anthropometric, laboratory and DXA measurements at baseline and at sixth month of the treatment were compared. RESULTS: The frequency of low aBMD Z-score (≤-1 SDS) in both or any site was found to be 78.2% in this study. Of 16 patients with an aBMD Z-score of <-2 SDS five gained more than 1 SDS, and one gained more than 2 SDS. Nine of 20 patients with an aBMD Z-score of <-1 SDS completely normalized. CONCLUSIONS: The results of the study showed that low BMD is common in children with celiac disease at the time of diagnosis and could improve in a short period of six months with a strict gluten-free diet and adequate supplementation of calcium and vitamin D.

Prevalence of Helicobacter pylori among children in a training and research hospital clinic in Istanbul and comparison with Updated Sydney Classification Criteria.

OBJECTIVE: Helicobacter pylori (H. pylori) is a gram-negative bacterium and one of the reasons for gastritis, peptic and duodenal ulcers. It is a crucial public health problem for both children and adults, especially in developing countries. This study aims to investigate the prevalence of Helicobacter pylori positivity in children and to compare with updated Sydney classification criteria. METHODS: This study was conducted from January 2015 to June 2017. This study included 885 children aged 0-17 year(s). Endoscopic biopsies were evaluated for the diagnosis of infection due to H. pylori. RESULTS: The findings showed that 418 (47.2%) of 885 children were positive for H. pylori, and this positivity had a significantly increasing correlation with the presence of chronic inflammation, neutrophilic activity, lymphoid aggregates, and follicles. Erythematous pangastritis and antral nodularity on endoscopic findings had a correlation with H. pylori positivity. CONCLUSION: In this hospital-based study, the findings suggest that H. pylori infection is a problem for children and more extensive studies are needed to determine the prevalence of H. pylori positivity among children.

The relationship between vitamin D level and hepatosteatosis in obese children.

OBJECTIVE: The increasing incidence of obesity in children is a significant risk factor for nonalcoholic fatty liver disease and obesity-associated morbidity. In the present study, we aimed to explore the correlation between Vitamin D level and hepatosteatosis in obese children. METHODS: A total of 110 children aged 10-16 years who presented to pediatric endocrinology outpatient clinic for obesity were enrolled. The study was completed in a single season between September and November. Hepatosteatosis was diagnosed by ultrasonography. The patients were grouped into two groups: Group 1 comprised patients with hepatosteatosis and Group 2 consisted of patients without hepatosteatosis. 25 hydroxy (25-OH) Vitamin D levels were compared between patients with and without hepatosteatosis. RESULTS: No statistically significant difference was observed between 25-OH Vitamin D levels of patients with and without hepatosteatosis. When the effects of age and sex were kept constant, there was no significant correlation between Vitamin D level and aspartate aminotransferase, alanine aminotransferase, and body mass index values. CONCLUSION: Unlike the results of the previous studies, we were unable to detect any significant difference between Vitamin D levels of obese patients with and without hepatosteatosis. We think that obesity, rather than Vitamin D status, that is, in fact, independently associated with nonalcoholic fatty liver disease. Larger studies are needed to investigate the impact of Vitamin D in children with obesity with hepatosteatosis.

Hepatopathies in children and adolescents with type 1 diabetes.

Background Diabetes and hepatosteatosis are dramatically increasing in childhood. Non-alcoholic fatty liver disease (NAFLD) is defined as a common disorder in adulthood, especially with type-2 diabetes and metabolic syndrome, while very few studies are available on liver health in children with type-1 diabetes. Patients and methods One hundred and ten (52 males and 58 females) patients with type-1 diabetes aged between 8 and 18 years were examined. The lipid profile, liver enzymes and hepatobiliary ultrasound findings of patients were investigated in terms of hepatopathies. Patients diagnosed with fatty liver were evaluated by pediatric gastroenterology specialists for the differential diagnosis and exclusion of other etiologies. The relationships between hepatopathy and age, pubertal status, the duration of diabetes and glycemic control were evaluated. Results Hepatopathy was found in 17 (15.5%) patients. The levels of alanine aminotransferase (ALT) and aspartate aminotransferase (AST) were normal and did not correlate with the ultrasonography (USG) findings. Hyperechogenicity detected by USG, whether it is true fat or glycogen hepatopathy, was found to be associated with "poor glycemic control" independently of age, puberty status and the duration of diabetes. Conclusions This study contributes to the literature in terms of the relationship between liver health and glycemic control in pediatric type-1 diabetes. Hepatopathies were releated with poor glycemic control independently of the duration of diabetes. This suggested that liver disorders should be considered as one of the subacute complications of diabetes. It was concluded that routine screening for comorbidities and complications in type-1 diabetes should also include hepatobiliary USG, as liver enzymes alone are inadequate for detecting hepatopathies.

Anesthetic Management in Pediatric Patient for Percutaneous Endoscopic Gastrostomy with Mitochondrial Myopathy: Leigh Syndrome.

Leigh syndrome (LS) is a rare disease mainly affecting the central nervous system due to the abnormalities of mitochondrial energy generation and seen in early childhood with progressive loss of movement, mental abilities, seizures, nystagmus, ophthalmoparesis, optic atrophy, ataxia, dystonia, or respiratory failure. Anesthesia and surgery exacerbate the risks of aspiration, wheezing, and breathing difficulties. Tracheal irritability can be stimulated with the efforts of intubation. We report the anesthetic management of a rare case of an 11-year-old boy with a severe form of LS for percutaneous endoscopic gastrostomy insertion. The patient was closely monitored during the procedure and the postoperative period. Carefully chosen anesthetic agents, good pain control, and close monitoring are essential.

Cholestasis and hypercalcemia secondary to panhypopituitarism in a newborn.

Dursun F, Gerenli N, Kirmizibekmez H. Cholestasis and hypercalcemia secondary to panhypopituitarism in a newborn. Turk J Pediatr 2017; 59: 100-103. Cholestatic hepatitis and hypercalcemia are rare features of hypopituitarism in newborns. So diagnosis of hypopituitarism is frequently delayed. The most frequent symptoms of congenital hypopituitarism are hypoglycemia, prolonged jaundince and micropenis. A patient with congenital hypopituitarism associated with cholestasis and hypercalcemia is reported here. Newborns with hypercalcemia and cholestasis should alert pediatricians to the possibility of congenital hypopituitarism and prompt endocrinological investigation.

Hepatoportal sclerosis in childhood: descriptive analysis of 12 patients.

Hepatoportal sclerosis (HPS) is defined as sclerosis of portal areas in the absence of cirrhosis. There is little information about HPS in children in the literature. The aim of this study was to describe the clinical presentation, associated disorders, laboratory characteristics and outcome of children who were diagnosed as HPS. This study included 12 children diagnosed as HPS by the Pathology Department between 2005 and 2011. Data were collected from the gastroenterology clinic charts retrospectively, including demographics, presentation characteristics, laboratory data and recent status of patients. Twelve patients were enrolled (6 girls, 6 boys). The median age of patients was 13.5 yr. Median age at the time of biopsy was 11 yr. Four patients had splenomegaly, 3 had esophageal varices, one had hepatopulmonary syndrome and had been transplanted. Smooth muscle antibody was found positive in 4 patients, without autoimmune hepatitis findings in liver biopsy. One patient had celiac disease and another patient had positive celiac disease serology but pathology findings. Another patient had Turner's syndrome. Mean follow-up time was 39 months (3.3 yr) after biopsy. Hepatoportal sclerosis does not necessarily present with portal hypertension in children.

Documented 2009 H1N1 Influenza A infection in pediatric liver transplant patients--description and follow-up of 7 patients.

BACKGROUND/AIMS: There is a paucity of data regarding pediatric liver transplant patients from Turkey and less so globally. We report here 7 pediatric cases with documented H1N1 nove Influenza A infection. MATERIAL AND METHODS: 7 pediatric liver transplant patients on immunesuppression, tested positive with PCR for 2009 H1N1 Influenza A, have been analyzed retrospectively. All patients were commenced oseltamivir treatment and 6 patients continued to take their immunosuppressive treatment. RESULTS: All patients (n=7) survived H1N1 novel Influenza A infection without any sequela. 1 patient has been admitted to Intensive Care Unit and has been discharged without any sequela. There was no graft dysfunction or loss during the infection episode. CONCLUSION: 2009 H1N1 Influenza A infection did not cause any mortality among our patients. Oseltamivir treatment may have played a role for improving in our patients' condition. Immunosuppression can be continued in pediatric liver transplant patients with close monitoring of vital signs and graft function.