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Aim Inflammatory bowel disease (IBD) refers to a group of diseases which cause chronic and recurrent inflammation in different parts of the digestive tract, such as Crohn's disease (CD) or ulcerative colitis (UC). CD can affect both the large and small intestines, while UC usually affects only the large intestine. Recent studies in immunogenetics have revealed that the innate immune system is crucial in triggering gut inflammation, and rare variants in genes which function in this system are important risk factors for this disease. Stimulator of interferon genes (STING) is a nucleotide-binding endoplasmic reticulum protein involved in the innate immune response. This study aimed to analyse the R232/H232 variant in the STING1 gene in pediatric patients diagnosed with IBD and to investigate whether this variant is associated with the prognosis of IBD. Materials and Methods Thirty-five pediatric patients admitted with a prediagnosis of IBD were included in this study. The R232/H232 variant was determined by end-point genotyping analysis after real-time reverse transcription-polymerase chain reaction (qRT-PCR) reactions using affinity probes. qRT-PCR analyses were performed to determine the mRNA expression levels of STING and interferon-induced genes in tissue samples. The western blotting method determined STING expression at the protein level. Results It was determined that 31.43% of the patients had heterozygous (R232/H232), and 68.57% had homozygous (H232/H232) genotypes. A significant difference was found between the genotype distribution and treatment stage. It was determined that 87.50% of the patients who started second-stage treatment had homozygous genotypes. It was also found that homozygous patients had longer durations of attacks than heterozygous patients. Conclusion R232/H232, the most common variant in the STING1 gene, affects treatment response and attack duration in patients with IBD. Therefore, we suggest that variants in the STING1 gene may be used to develop genetic-based personalized treatment strategies for IBD patients in the future. Keywords:STING, R232/H232, inflammatory bowel disease, Crohn's disease, ulcerative colitis: [ABSTRACT FROM AUTHOR]

Objectives: The influence of advancing fibrosis on graft survival in the context of pediatric liver transplantation accentuates the critical role of protocol‐driven liver biopsies, a practice adopted by numerous medical centers. Consequently, the exigency for noninvasive methodologies to assess graft fibrosis assumes heightened importance when conventional clinical and laboratory parameters fail to reveal signs of liver damage. Methods: This study aimed to assess the reliability of transient elastography (TE) in pediatric liver transplant recipients to detect graft fibrosis and compare the results of TE in patients who underwent biopsy. Results: This prospective cohort study included liver transplanted children who underwent biopsy at Ege University Children's Hospital between October 1, 2021, and October 31, 2022, and a healthy control group. According to TE, fibrosis was detected in 40 patients, and no fibrosis was detected in 50. The median time to develop fibrosis was 100 months (95% CI [83.1–116.8]). A statistically significant positive correlation existed between LSM and METAVIR fibrosis score (r = 0.562, p = 0.001). There was a statistically significant difference in LSM between patients with F2 fibrosis (7.8–8.8 kPa ± 3.2) compared to patients with F0 fibrosis (5.2 kPa ± 0.7) (p = 0.005) and F1 fibrosis (6.1 kPa ± 1.5) (p = 0.041), on ANOVA. Conclusion: Liver allograft fibrosis is common in long‐term follow‐up in children who have undergone liver transplantation. Abnormal TE may guide physicians to consider liver biopsy to detect late allograft fibrosis in these children. [ABSTRACT FROM AUTHOR]

Background. Cryptococcus neoformans causes cryptococcosis, primarily affecting immunocompromised individuals, including solid-organ transplant recipients, and, less frequently, immunocompetent people. Case. A 15-year-old male with congenital hepatic fibrosis, portal hypertension, and cirrhosis underwent orthotopic liver transplantation. He received perioperative antimicrobial and antifungal prophylaxis and continued immunosuppressive treatment. Thirty months post-transplant, he presented with fever, hypertension, and sacroiliac joint pain. Peripheral blood cultures showed C. neoformans, confirmed by pan-fungal polymerase chain reaction assay and latex agglutination tests. Despite initial treatment with intravenous (IV) fluconazole, his condition worsened, necessitating intubation for acute hypoxic respiratory failure. Magnetic resonance imaging and computed tomography scans indicated disseminated cryptococcosis with lymphadenitis, possible meningitis, and pneumonia. Treatment was escalated to IV liposomal amphotericin B and 5-flucytosine, while reducing immunosuppressive treatment. Despite negative fungal cultures on the tenth day, the patient deteriorated, developing pancreatitis, pneumonia, and massive gastrointestinal bleeding, leading to death on the 35th day of hospitalization. Conclusion. This case shows the severity and complexity of managing disseminated cryptococcosis in pediatric liver transplant recipients. Aggressive therapy and early identification are essential for improving outcomes in these high-risk patients. [ABSTRACT FROM AUTHOR]

Congenital sucrase–isomaltase deficiency (CSID) is a rare inherited carbohydrate malabsorption disorder caused by sucrase–isomaltase (SI) gene variants. In CSID, an autosomal recessively inherited disease, symptoms can also be seen in individuals with heterozygous mutations. The variant spectrum was evaluated retrospectively in individuals who presented with chronic diarrhea between 2014 and 2022 and had undergone genetic testing of the SI gene considering CSID due to diet-related complaints. Ten patients with chronic diarrhea were genetically evaluated with SI gene sequencing. In patients diagnosed with CSID and whose symptoms improved with enzyme replacement therapy, the genetic mutation zygosity was found to be heterozygous at a rate of 90%. In 10% of the patients, the mutation was homozygous. Limiting consuming sucrose and isomaltose foods reduced the patients' complaints, but the symptoms did not disappear completely. With the initiation of sacrosidase enzyme replacement therapy, the patient's complaints completely disappeared. In CSID, defined as an autosomal recessive disease, clinical symptoms can also be seen in heterozygous cases previously described as carriers, and these patients also benefit from sacrosidase enzyme replacement therapy. In light of these findings, the autosomal recessive definition of CSID does not fully characterize the disease. CSID is a rare inherited carbohydrate malabsorption disorder caused by sucrase–isomaltase gene variants. In congenital sucrase–isomaltase deficiency, an autosomal recessively inherited disorder, symptoms can also be seen in individuals with heterozygous mutations. Severe disease symptoms can also be seen in heterozygous cases, which were thought to be carriers because the disease was previously described as autosomal recessive. Sacrosidase enzyme replacement therapy also eliminates the disease symptoms in patients with heterozygous CSID mutations. This is the second study on sucrase–isomaltase enzyme deficiency pediatric groups in Türkiye and Europe. This is the study to evaluate the congenital sucrase-isomaltase enzyme deficiency in chronic diarrhea cases covering adults and childhood in our country and the clinical features and treatment response characteristics of the variants detected in these patients. In addition, another aim of our study is that sucrase–isomaltase enzyme deficiency should be considered in the differential diagnosis and should be kept in mind, especially in cases with chronic diarrhea whose cause cannot be determined in childhood. [ABSTRACT FROM AUTHOR]

Thalassemia is the most common monogenic disorder and the only curative treatment is stem cell transplantation. Patients must have a regular blood transfusion to maintain life. Multi-transfusion is a risk factor for transfusion-transmitted infections (TTIs). This study aims to assess the TTIs in pediatric thalassemia patients. This retrospective study was conducted between April 2015 and December 2016. In this study, 240 Beta-thalassemia children were enrolled. Enzyme-Linked Immunosorbent Assays test results for hepatitis B, C, human immunodeficiency virus (HIV) and reverse transcriptase-polymerase chain reaction results, hepatitis C virus (HCV) genotype results, serum ferritin and transaminase levels were obtained from medical records. The findings obtained in this study showed that the prevalence of HCV infection and hepatitis B virus infection was 5.4% and 0.8%, respectively, and there were no patients with HIV infection. The serum transaminase levels were higher in the patients with HCV infection. There was no difference in serum ferritin levels between hepatitis or non-hepatitis patients. The development of blood screening systems for TTIs is important for blood safety. Especially the patients, who live in places that have poor quality screening systems, are at high risk of TTIs. [ABSTRACT FROM AUTHOR]

Objective: Liver transplantation is an accepted treatment modality in the pediatric patient group due to metabolic diseases. Patients are a more special population due to the presence of concomitant metabolic problems and the pediatric age group. There is no consensus on the long-term prognosis of pediatric patients with various rare liver diseases and inherited metabolic diseases. For this reason, we retrospectively evaluated our pediatric patients who underwent liver transplantation for pediatric metabolic liver diseases between 2012 and 2021. Methods: Seventeen patients were included in the study. The mean Pediatric End-Stage Liver Disease (PELD) score was 21.47 (±8.47). Eight (47,1%) children received cadaveric, and 9 (52,9%) children received living liver transplantation. The mean age was 8.03 years (±6.37) (13 months-18 years). Left lateral graft was used in 11 patients (64%), right lobe graft in 3 patients (18%) and left lobe graft in 3 patients (18%). Six patients had biliary strictures out of which, 5 (29.4%) had percutaneous transhepatic biliary dilatation, and ERCP was performed in 1 (5.8%) patient. Results: Our early survival rate was 100% and 2 patients (11,7%) were exitus in the late period for reasons unrelated to liver transplantation. Our mean follow-up period after transplantation was 70,6 months (±20.75) and no additional metabolic crisis was detected during the follow-up of the patients, including patients whose donors were relatives. Conclusion: Metabolic liver diseases have severe systemic effects, and it is important to be evaluated by a multidisciplinary team in their diagnosis and treatment and to perform planned liver transplants rapidly without delay. Liver transplantation performed at the right time can prevent permanent additional organ damage. [ABSTRACT FROM AUTHOR]

Aim: Celiac disease is associated with an increased risk of cardiovascular disease due to inflammation and autoimmunity involved in its pathophysiology. We aimed to evaluate vascular involvement in children with celiac disease based on their augmentation index, carotid pulse wave velocity, carotid intima-media thickness, echocardiographic findings, and blood pressure. Materials and Methods: This cross-sectional and controlled study was performed at a single center between 2018 and 2019. The study population consisted of 44 patients with celiac disease who had been on a gluten-free diet for at least one year. Results: We compared celiac patients with a healthy group. While the celiac patients had significantly higher carotid intima media thickness and carotid pulse wave velocity values, there was no difference in the augmentation index values. There was no significant difference in carotid artery intimal medial thickness, augmentation index and carotid pulse wave velocity values between the diet-compliant and non-compliant groups. Conclusion: Although hypertension was not detected, arterial stiffness and carotid intima media thickness measurements were higher in the celiac disease patients compared to the healthy controls. This showed that these parameters can be used in early vascular damage assessment. These measurements, which are non-invasive and repeatable, can be a guide for the monitoring of the development of preclinical atherosclerosis in the follow-up of the pediatric patients diagnosed with celiac disease. [ABSTRACT FROM AUTHOR]

Copyright of Journal of Pediatric Emergency & Intensive Care Medicine / Çocuk Acil ve Voğun Bakım Dergisi is the property of Galenos Yayinevi Tic. LTD. STI and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Background: Candidemia is a life‐threatening infection in hospitalied children. This study aimed to evaluate candidemia's demographic and clinical characteristics and identify the risk factors and outcomes of Candida albicans (CA) and non‐albicans Candida (NAC) spp. Methods: A retrospective cohort was designed to evaluate paediatric patients with candidemia between January 2008 and December 2020. Results: A total of 342 episodes in 311 patients were evaluated. The median age of the patients was 2.1 years (1 month–17 years and 6 months), and 59.6% were male. The prevalence of NAC (67.5%) candidemia was higher than that of CA (32.5%). The most commonly isolated Candida species was Candida parapsilosis (43.3%), followed by C. albicans (32.5%), Candida glabrata (6.1%) and Candida tropicalis (5.0%). The length of hospital stay prior to the positive culture and the total length of hospital stay were longer in the NAC group (p =.003 and p =.006). The neutrophil count was lower in the NAC group (p =.007). In the multivariate analysis, total parenteral nutrition, antifungal prophylaxis and a history of coagulase‐negative staphylococci (CoNS) culture positivity in the past month were risk factors for developing candidemia due to NAC (p values were.003,.003 and.045). C. albicans and C. parapsilosis fluconazole resistance were 9.5% and 46.6%, respectively. The rates of amphotericin B resistance were 1.1% and 7.6% in C. albicans and C. parapsilosis, respectively. Mortality (14‐day and 30‐day) rates did not differ between the groups. Conclusions: A history of CoNS culture positivity in the past month, total parenteral nutrition, and antifungal prophylaxis increases the risk of NAC candidemia. [ABSTRACT FROM AUTHOR]

Background. Chronic abdominal pain is a frequent childhood complaint. This study aims to determine the relationship between bile reflux, which is increasing with the growth in packaged food consumption resulting from the changing food industry, and Helicobacter pylori gastritis. Methods. In this retrospective study, 804 cases where there was an endoscopic examination for abdominal pain were included. We recorded the patients’ age, sex, and macroscopic and microscopic endoscopic findings. Patients with chronic diseases were excluded. Results. Our study included 804 cases. Of patients, 61.8% were female and 38.2% were male. The mean age was 11.56±4.14 years. The Helicobacter pylori gastritis rate was found to be 22.3% among all patients. Bile reflux was seen in 192 (23.9%) patients. Only 27 (14.1%) of the 192 patients had Helicobacter pylori positivity (p=0.002). Conclusions. Helicobacter pylori gastritis is less common among patients with bile reflux. In another study conducted in our outpatient clinic before the 2000s, the frequency of Helicobacter pylori gastritis was found to be 40%, but after 2000 this rate decreased to 22.3% due to bile reflux caused by the changing food industry. This result may be explained by the bactericidal effects of bile acids. [ABSTRACT FROM AUTHOR]

Aim: The aim of this retrospective study was to determine the indicators of survival with native liver (NLS) of patients operated for biliary atresia (BA). Materials and Methods: This review included 53 BA patients in a 13-year period. There were two groups: (1) NLS and (2) necessitating transplantation. Age at operation, and bilirubin levels on the 7th day, 1st and 3rd months postoperatively were recorded. Mann-Whitney U and logistic regression analysis were used for statistical analysis for NLS and liver transplantation (LTx). Results: Kasai portoenterostomy (KPE) was performed on 38 patients, and 15 were directed to LTx due to cirrhotic liver at presentation. Twentythree of 38 patients with KPE survived with native liver, and 15/38 patients required LTx during follow-up. Mean age at portoenterostomy for NLS and necessitating LTx was 54.43±24.64 and 68.33±24.35 days respectively (p>0.05). The 1st and 3rd month bilirubin levels were lower in the NLS group (p<0.01). The 1st month and 3rd month bilirubin levels after KP were significant predictors for survival with NLS. A cut-off value of 5.7 mg/dL bilirubin level at the 1st month predicted the necessity of transplantation after KPE with a sensitivity of 83.3% and specificity of 78.9%. Conclusion: Bilirubin levels of the 1st and 3rd months are reliable predictors for the success of portoenterostomy. [ABSTRACT FROM AUTHOR]

Aim: In this study, the correlation of faecal calprotectin (FC) levels with endoscopic and histopathological findings was evaluated in children who underwent upper gastrointestinal system (UGIS) endoscopy. Materials and Methods: The patients aged 4-18 years admitted to our endoscopy unit were included in this study. Faecal samples were collected on the day participants presented for the study. A calprotectin assay was performed on the faecal samples using enzyme-linked immunosorbent assay kits. FC levels were compared with those of children with normal histopathology. Results: The FC levels of 112 children included in this study were evaluated according to their histopathological diagnoses. Their FC levels were not found to be significantly higher than those in healthy children. No significant difference was found in the FC levels of participants with or without signs of inflammation in the esophagus, stomach and duodenum. In those participants with chronic gastritis, Helicobacter pylori (H. pylori) gastritis, reflux esophagitis or celiac disease, FC levels above cut-off values were observed. However, no significant difference was found in those participants with normal endoscopic findings. There was no significant difference in FC levels between similar regions of the UGIS with or without signs of inflammation. A positive correlation was discovered between eosinophil counts and FC levels in patients with H. pylori gastritis and esophagitis. Conclusion: The diagnostic value of FC levels in UGIS diseases was not sufficient to establish a definitive diagnosis in our study. [ABSTRACT FROM AUTHOR]

Background: Citrin deficiency (CD) is an autosomal recessive genetic disorder caused by a defect in the mitochondrial aspartate/glutamate antiporter, citrin. Three clinical manifestations have been described until today. Case presentation: We reported 5 CD patients from two families. Four patients were male and one patient was female. Two of them have NICCD (neonatal intrahepatic cholestasis caused by citrin deficiency); three of them have CTLN2 (adult-onset type II citrullinemia). Both NICCD patients showed typical clinical and biochemical changes with a diagnosis confirmed by mutations in the SLC25A13 gene. We detected a previously unreported homozygous novel mutation c.478delC (L160Wfs*36) on the SLC25A13 gene. All of the CTLN2 patients were siblings. Proband was a 15-year-old mentally retarded and autistic male who had admitted to our emergency with disorientation. Laboratory data showed hyperammonemia and citrullinemia. Conclusions: Two different profiles of age-related CD have been depicted with this article. It has been aimed to underline that the CD can be observed in different forms not only in neonatals or little infants but also in adolescents. This article is the first case series that covers both NICCD and CTLN2 cases together and that has been published in Turkey. Considering the fact that especially the majority of CTLN2 cases have been identified in Asian countries, our article has vital importance in terms of defining phenotypic features of the disease. [ABSTRACT FROM AUTHOR]

Aim: This study aims to evaluate the sleep quality and the quality of life (QoL) of adolescents with chronic gastritis, and determine the related factors. Materials and Methods: This study included patients who were diagnosed with chronic gastritis both clinically and histopathologically. The Pittsburgh Sleep Quality Index and Epworth Sleepiness scale were used to assess sleep quality, and the Pediatric Quality of Life Inventory was used to assess QoL. The control group included healthy volunteers with no chronic diseases and no gastrointestinal system complaints. Results: Fifty-six patients with gastritis and 55 healthy volunteers were included. The patients with gastritis were found to have significantly lower overall QoL subscale, and total scale scores, except for the social functioning total score. Except for the subjective sleep quality, significant differences were seen between the groups in the sleep quality subscale, total scale, and sleepiness scale averages. The total score of the sleep quality scale was significantly higher in patients who had lower incomes than expenditure. There were no significant differences between the obese or overweight patients with gastritis and the rest of the gastritis patients in the study sample. There were no significant differences found between the Helicobacter pylori positive and negative gastritis patients in terms of the total QoL and sleepiness scale scores. Conclusion: This study is important because it is the first study in adolescents in this respect. The sleep and QoL scores of those adolescents with chronic gastritis were lower than the control group. [ABSTRACT FROM AUTHOR]

Aim: This clinical study examined various dimensions of the Quality of Life (QoL) in children who had undergone liver transplantation. Materials and Methods: The patient group (n=50) of the study consisted of children and their families where the child had received a liver transplant (possibly from their mother) in Ege University Organ Transplant Research Center. The control group (n=50) consisted of children and their families who did not undergo any organ transplants, did not have any health issues and were of similar age, gender and socioeconomic status with the members of the study group. The children in the study were examined with a QoL questionnaire named KINDer Lebensqualitätsfragebogen (Children's Quality of Life Questionnaire). Results: The overall QoL and the QoL in the physical, emotional, self-esteem, family, friend, and school sub-categories as reported by the children themselves in the study group, in both the 8-12 and 13-16 year age groups were determined to be higher (p<0.05) when compared to those children in the control group. Similarly, the QoL for the children in the study group, as reported by their families were determined to be higher (p<0.05) when compared to the control group. Conclusion: Liver transplantation has effects on the QoL of both the children and their families. [ABSTRACT FROM AUTHOR]

Aim: Liver transplantation (LT) is performed for several indications in the pediatric population, including malignancy and acute hepatic failure among others. LT has become an important treatment alternative for metabolic diseases. In most pediatric transplant centers, metabolic liver disease is the second most common indication for LT after biliary atresia. Our studies aim is to compare the post-transplant outcomes of those patients with metabolic and other liver diseases in our transplant program. Materials and Methods: One hundred eighty-nine patients who underwent LT between 1997 and 2015 due to metabolic diseases and acute or chronic liver failure were included in the study. This study was performed retrospectively. Results: We enrolled 189 patients in our study. 54% (n=102) male and 46% (n=87) female patients were included in the study. The metabolic disease group included 56 patients and the non-metabolic disease group contained 133 patients. Progressive familial intrahepatic cholestasis is the most common disease among metabolic diseases resulting in LT and Wilson disease is the second most common. Post-transplant immunosuppression was similar for both groups. There was no difference in both groups regarding the onset of post-transplant complications for graft type or recipient age. Biliary and portal vein complications were most particularly defined in the group with non-metabolic diseases. There was no significant difference in survival between the two groups. Conclusion: LT is an important treatment option for acute hepatic failure and end-stage liver diseases. In addition, LT is an alternative treatment option for some metabolic diseases. [ABSTRACT FROM AUTHOR]

Background: Gaucher disease (GD) is a lysosomal storage disorder caused by autosomal recessive mutations in the glucocerebrosidase (GBA) gene, which encodes acid β-glucosidase. GD type 3c is a rare group characterised by cardiovascular involvement, and homozygous D448H is the most frequent mutation. Case presentation: We describe two patients who had homozygous D448H mutations. The index patient had hepatosplenomegaly, liver insufficiency and cardiac involvement and her sister had severe cardiac involvement with cardiomyopathy and diffuse aortic calcification. The index case's liver was transplanted at the age of 6 months from a related donor and her sister who had severe cardiovascular disease died at the age of 12 years. Conclusions: Our patients had clinical variability. We need to discuss whether liver involvement could be the initial signs in patients with GD type 3c. [ABSTRACT FROM AUTHOR]

Symptoms of infantile inflammatory bowel disease (l-IBD) can be life-threatening and associated with poor prognosis. The presence of Mediterranean fever (MEFV) gene mutations play an important role in treatment of l-IBD. In this article, we describe a case of l-IBD with a resistant fistula, in which remission occurred following colchicine therapy. The patient was a six-month-girl with complaints of bloody diarrhea and a perianal abscess of three months duration. Laboratory tests revealed elevated inflammatory parameters, hypoalbuminemia, and anemia. Results of repeated viral, bacterial and parasitic analyses were negative. Endoscopic and histopathological examinations confirmed a diagnosis of l-IBD. Although diarrhea episodes decreased following intensive conventional treatment with immunosuppressive therapy and anti-tumor necrosis factor, the perianal abscess and fistula did not resolve. Molecular genetic analysis to identify causes of infantile disease revealed the MEFV gene mutation. Thus, colchicine was added to the treatment regimen. Following treatment with colchicine, defecation returned to normal, and the fistula resolved. The MEFV gene mutation should be investigated in children with infantile colitis and resistant fistulas, particularly in Mediterranean countries. In patients with infantile colitis who have the MEFV gene mutation, colchicine treatment may be an alternative to intensive immunosuppressive therapy. [ABSTRACT FROM AUTHOR]

A gastric outlet obstruction (GOO) is a major complication of peptic ulcers (PUs) and corrosive ingestion in children; however, the optimal management of a patient with a GOO after a PU remains controversial. Although surgical correction is the most common treatment option, endoscopic balloon dilatation and simultaneous dilatation with a steroid injection are used more frequently as first-line treatments for PU-related GOOs. These patients require operative interventions when the obstruction cannot be managed using endoscopic approaches or in cases of relapsing after the procedure. Here, we present a case to create awareness that endoscopic balloon dilatation is a simple, effective, and safe therapy for a PU-related GOO. [ABSTRACT FROM AUTHOR]

Organic diseases account for only 16-30% of early feeding disorders. During the infancy period, mother-child relationship is in the center of feeding and disturbances in this relationship can also cause feeding disorders. Infantile anorexia (IA) usually begins within the first three years of age, but it has most commonly been observed to emerge between 9 and 18 months of age, a time during which babies transition to spoon and self-feeding. It is also worth noting that babies start to gain autonomy during this time frame. The present study discusses the case of an 8-month-old girl diagnosed with IA after ruling out food allergies, gastro-esophageal reflux disease, malrotation, and neurological problems. The patient was diagnosed with IA was treated with the relational regulation of parents and active participation of her father during the treatment process. It is found that mother-child relational disturbances and conflicts decreased dyadic reciprocity and non-appropriate affects in feeding times are associated with IA. Effective treatment strategies for non-organic feeding disorders might be developed by giving importance to maternal mental health and providing paternal involvement in baby caregiving. [ABSTRACT FROM AUTHOR]

Background: Pancreatitis can be seen at any age in childhood. Therefore, it is important for pediatricians to know the diagnosis and the management of pancreatitis. Objectives: The aim of this study was to evaluate the etiological factors, clinical features and management of pancreatitis in children. Methods: This study included hospitalized children who were diagnosed with pancreatitis. The clinical presentations, laboratory analyses, radiological features, etiologies and treatments were recorded. Results: A total of 59 pancreatic attacks were recorded in 41 patients. The most common symptoms were abdominal pain and vomiting, and the most common etiological cause was idiopathic. Approximately 22% of the patients had acute recurrent episodes. Somatostatin was used to treat 61% of the attacks; however, it did not reduce the time to recovery after an attack when compared to those patients who did not use somatostatin (P = 0.36). The white blood cell counts and urea and calcium levels were significantly different between those patients who did and did not use somatostatin. Seventeen (28.8%) of the pancreatitis attacks were determined to be severe. Moreover, a mutation in the cystic fibrosis transmembrane conductance regulator was detected in two patients with recurrent pancreatitis. Conclusions: Fever and irritability can be signs of pancreatitis in infants and toddlers. In our cases, the somatostatin treatment was not effective in terms of the time to recovery after an attack. [ABSTRACT FROM AUTHOR]

Crohn's disease (CD) is a chronic disease of the digestive system. It is characterized by lesions predominantly located in the small intestine and colon, although they may also occur in any segment of the gut, including the oral cavity. The involvement of oral mucosa in CD may be underreported, as up to 42% of pediatric patients with CD were found to have oral lesions after undergoing a thorough oral examination. Here, we present a case of CD in which the patient was referred to a dentist due to non-healing aphthous ulcers in the mouth. Our patient, a 16-year-old boy, was admitted to the dentistry clinic with swelling of the oral mucosa and the lips which had been ongoing for 3 months. The patient was referred to our department due to the non-response of the mucosal lesions to repeated cycles of medical treatment. Colonoscopy revealed a cobblestone appearance especially in the left colon, partly normal mucosa, and exudative ulcers. Biopsy samples showed increased inflammatory cell infiltration in the lamina propria and cryptitis in some of the crypts. A close collaboration between gastroenterologists and dentists is useful when addressing the diagnosis and appropriate management of these patients. [ABSTRACT FROM AUTHOR]

Aim: Celiac disease is an autoimmune enteropathy which improves in genetic predisposition circumstances. Silent and atypical forms cause diagnostic problems. In this study; we aimed to improve the awareness by applying the finger prick test to the students studying in two different departments at Ege University. Materials and Methods: We included 143 of the 173 students from Ataturk School of Health, Department of Nutrition and Dietetics in this study and 359 5th grade students in the Faculty of Medicine who were selected randomly during their practical lesson. Biocard finger prick test was applied to a total of 502 students. Students with positive results were further examined based on ESPGHAN 2012 diagnosis criteria. Results: Of the 502 students, 259 were females (51.5%) and 243 were males (49.5%). The age range was 17-24 years. Finger prick test was positive in 1 female student from the department of nutrition and dietetics (1/143), and in 3 male students from the faculty of medicine (3/359). These four students had anemia and the others were asymptomatic. One of the asymptomatic students was overweight. Routine hematological, biochemical and serological tests were performed in these four students. None of them presented isolated IgA deficiency. Anti-tissue transglutaminase, anti-gliadin and anti-endomysial antibodies were positive. Duodenal endoscopy revealed mucosal damage in these four students. Histopathological examinations were found to be compatible with Marsh 3 celiac disease. All patients were started on a gluten free diet. Conclusion: In this study, after the screening test during routine practice, we found a prevalence of celiac disease of 0.8% among students of two different departments at Ege University. Of the students, 50% were asymptomatic and this finding drew attention to the silent form of the disease. [ABSTRACT FROM AUTHOR]

Copyright of Journal of Pediatric Research is the property of Galenos Yayinevi Tic. LTD. STI and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Johanson–Blizzard Syndrome (JBS) (MIM #243800) is a rare autosomal recessive genetic disorder characterized by exocrine pancreatic insufficiency, abnormal facial appearance and varying degrees of mental retardation. Mutations in UBR1 gene (MIM *605981) are considered to be responsible for the syndrome. Here, we report a 3 year-old mentally normal JBS girl. The patient presented with exocrine pancreatic insufficiency as well as failure-to-thrive. On dysmorphological examination, she was noted to have an abnormal hair pattern with frontal upsweep and alae nasi hypoplasia. With these findings, JBS diagnosis was established clinically. Molecular analysis of the UBR1 gene revealed two inherited novel mutations; one coming from each parent. These novel mutations were c. 1280T>G and c. 2432+5G>C, and they were found to be disease causing via in-silico analysis. In conclusion, for patients with longstanding exocrine pancreatic insufficiency, it should be considered as being symptomatic of a far broader picture. To omit connection with rare genetic diseases, such as Johanson–Blizzard Syndrome, a detailed dysmorphological examination ought to be performed. [ABSTRACT FROM AUTHOR]

Wilson's disease (hepatolenticular degeneration) is an autosomal recessive defect in cellular copper transport. Impaired biliary copper excretion leads to an accumulation of copper mostly in the liver, brain and cornea. Familial Mediterranean Fever (FMF) is an autosomal recessive autoimmune disease as a result of a mutation in the MEFV gene encoding pyrin protein characterized by recurring fever and polyserositis attacks. In this report, we describe a Turkish female child with cholestatic hepatitis of unknown etiology who was later diagnosed with typical FMF. [ABSTRACT FROM AUTHOR]

The most important factor that complicates the work of dysmorphologists is the significant phenotypic variability of the human face. Next-Generation Phenotyping (NGP) tools that assist clinicians with recognizing characteristic syndromic patterns are particularly challenged when confronted with patients from populations different from their training data. To that end, we systematically analyzed the impact of genetic ancestry on facial dysmorphism. For that purpose, we established the GestaltMatcher Database (GMDB) as a reference dataset for medical images of patients with rare genetic disorders from around the world. We collected 10,980 frontal facial images - more than a quarter previously unpublished - from 8,346 patients, representing 581 rare disorders. Although the predominant ancestry is still European (67%), data from underrepresented populations have been increased considerably via global collaborations (19% Asian and 7% African). This includes previously unpublished reports for more than 40% of the African patients. The NGP analysis on this diverse dataset revealed characteristic performance differences depending on the composition of training and test sets corresponding to genetic relatedness. For clinical use of NGP, incorporating non-European patients resulted in a profound enhancement of GestaltMatcher performance. The top-5 accuracy rate increased by +11.29%. Importantly, this improvement in delineating the correct disorder from a facial portrait was achieved without decreasing the performance on European patients. By design, GMDB complies with the FAIR principles by rendering the curated medical data findable, accessible, interoperable, and reusable. This means GMDB can also serve as data for training and benchmarking. In summary, our study on facial dysmorphism on a global sample revealed a considerable cross ancestral phenotypic variability confounding NGP that should be counteracted by international efforts for increasing data diversity. GMDB will serve as a vital reference database for clinicians and a transparent training set for advancing NGP technology.

Celiac disease (CD) is an autoimmune enteropathy. Peroxiredoxins (PRDXs) are powerful antioxidant enzymes having an important role in significant cellular pathways including cell survival, apoptosis, and inflammation. This study aimed at investigating the expression levels of all PRDX isoforms (1-6) and their possible relationships with a transcription factor, HIF-1α, in the small intestinal tissue samples of pediatric CD patients. The study groups consisted of first-diagnosed CD patients ( n = 7) and non-CD patients with functional gastrointestinal tract disorders as the controls ( n = 7). The PRDXs and HIF-1α expression levels were determined by using real-time PCR and Western blotting in duodenal biopsy samples. It was observed that the mRNA and protein expression levels of PRDX 5 were significantly higher in the CD patients, whereas the PRDX 1, -2, and -4 expressions were decreased in each case compared to the control group. No significant differences were detected in the PRDX 3 and PRDX 6 expressions. The expression of HIF-1α was also significantly elevated in CD patients. These findings indicate, for the first time, that PRDXs, particularly PRDX 5, may play a significant role in the pathogenesis of CD. Furthermore, our results suggest that HIF-1α may upregulate PRDX-5 transcription in the duodenal tissue of CD.

Background: Hepatitis-associated aplastic anemia (HAAA) is a rare complication that presented with bone marrow failure after acute hepatitis. HAAA usually occurs in adolescent men within 1-6 months following hepatitis. Most of HAAA's etiology has non-A-E viral hepatitis., Methods: Our retrospective study included patients with acute fulminant hepatitis who had been treated in Ege University Pediatric Gastroenterology, Hepatology and Nutrition Department and İzmir Kent Hospital Clinical, laboratory, and epidemiological data of the patients were collected from the files., Results: In this study, 499 children underwent liver transplantation (LT) in two pediatric transplantation centers. Sixty-eight (13.6%) out of 499 patients, underwent liver transplantation due to fulminant hepatic failure (FHF). Therefore, a total of 64 patients (34 girls, 30 boys) with a diagnosis of FHF have included in the study. Thirty-two (50.0%) of 64 FHF were due to non-A-E hepatitis and 4 out of the 64 patients (6.2%) with FHF developed HAAA. All of the patients received prednisolone as immunosuppression treatment after LT. Three patients were also given Tacrolimus and 1 received an additional mycophenolate mofetil. One of the patients was given prednisolone and cyclosporine treatment without tacrolimus. Bone marrow transplantation was performed in 1 patient (25.0%). Two of the patients received immunosuppressive treatment including rabbit-derived anti-thymocyte globulin, cyclosporine, and initially prednisolone., Conclusion: In children who underwent liver transplantation for non-A-E FHF are at high risk to develop aplastic anemia. The clinicians should be alert after orthotropic liver transplantation patient could develop aplastic anemia and early treatment with immunosuppressive therapies result in a more successful outcome.

Introduction: Functional constipation (FC) is a common problem in childhood. This study intended to investigate the dietary properties and anthropometric findings of children with FC., Population and Methods: Patients with FC were defined according to the Rome IV diagnostic criteria. The control group included children who were not diagnosed with FC or any other organic disease. The children who admitted to pediatric gastroenterology outpatient clinic between September 2017-March 2018 were included. Anthropometric measurements of weight, height, and body mass index were recorded. Body mass index z-scores were used to identify for overweight and obese children. Malnutrition was defined according to Waterlow criteria. The three-day nutritional diaries of both FC patients and control subjects were assessed and the daily average of calorie, fiber, carbohydrate, protein and fat intake were calculated by the same nutritionist., Results: Fourty patients with FC and fourty healthy control were included. Twenty-four patients with FC were in the normal height and weight ranges. There was no significant difference in the average daily calorie, carbohydrate, fat and fiber intake between the FC and control groups. Although protein ratios (%) in the diet were found to be significantly lower in children with FC, the amount of protein that taken daily was found to be within normal limits in both groups., Conclusion: Most children with FC were in the normal range for height and weight. There was no significant relationship between FC and carbohydrate, fat and fiber content in the diet, only low protein ratios were found in FC., Competing Interests: The authors report no conflicts of interest in this work., (Sociedad Argentina de Pediatría.)

Background/aims: Pediatric intestinal pseudo-obstruction (PIPO) is a severe disorder of gut motility. In this rare and difficult-to-manage disease, complex treatment method, such as intestinal transplantation, is sometimes needed. This study evaluated the management and follow-up results of patients with PIPO who received treatment at our center., Materials and Methods: The cases of 13 patients with PIPO were reviewed retrospectively. Demographic data, clinical features, etiologies, pharmacological and surgical treatments, nutritional support, anthropometric findings, small bowel transplantation (SBT), and survival rates were assessed., Results: Two of the patients were diagnosed at 1 and 5 years of age, while other patients were diagnosed during neonatal period. The etiological cause could not be identified for 5 patients. Pharmacological treatment response was observed in 38.4% of patients. Post-pyloric feeding was applied in 4 patients, but no response was observed. Gastrostomy decreased the clinical symptoms in 3 patients during the abdominal distension period. Total oral nutrition was achieved in 38.4% of the total-parenteral-nutrition (TPN)-dependent patients. It was observed that anthropometric findings improved in patients with total oral nutrition. Liver cirrhosis developed in 1 patient. Venous thrombosis developed in 4 patients. The SBT was performed on 3 patients. One of these patients has been followed up for the last 4 years., Conclusion: Pediatric intestinal pseudo-obstruction is a rare disease that can present with a wide range of clinical symptoms. While some patients require intestinal transplantation, supportive care may be sufficient in others. For this reason, patients with PIPO should be managed individually.

Objectives: The aim of the present study was to investigate psychiatric symptoms in adolescents diagnosed as having chronic gastritis, and to evaluate family functioning., Methods: The population consisted of adolescents who were diagnosed endoscopically and histopathologically as having chronic gastritis without additional chronic disease. The anxiety levels, depression levels, and emotional and behavioral symptoms of the adolescents were measured using the Screen for Child Anxiety Related Emotional Disorders (SCARED), Beck Depression Inventory (BDI), and Strengths and Difficulties Questionnaire (SDQ). Family functioning was evaluated using the Family Assessment Device (FAD)., Results: Fifty eight adolescents were included to study. According to the SDQ subscale results, adolescents with gastritis had more problems in emotional, hyperactivity, and peer relations areas, but the results in conduct problems and prosocial behaviors were normal. Levels of all subscales of Family Assessment Device were higher than 2, showing problems in family functioning., Conclusions: This study suggests that adolescents with chronic gastritis experience more difficulties in peer relations and family functioning, and they express more emotional problems., (Sociedad Argentina de Investigación Odontológica.)