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Gilbert syndrome (GS) is a disease characterized by mildly elevated indirect serum bilirubin levels due to mutation in the promoter of the UGT1A1 gene, which causes a decrease in uridine diphosphate glucuronyltransferase enzyme activity. Gilbert syndrome should be considered based on clinical and laboratory findings in differential diagnosis, which can be supported by genetic analysis. This study aimed to evaluate the clinical findings and UGT1A1 mutations of children with Gilbert syndrome.Patients who were admitted to the pediatric gastroenterology clinic and who were considered to have Gilbert syndrome based on clinical and laboratory findings were included in the study. The UGT1A1 analysis was performed by Sanger sequence analysis.A total of 56 children were included in the study. A(TA)7TAA, A(TA)6TAA, and (TA)6/7 allele promoter polymorphism was detected in 75.5%, 22.5%, and 2% of the patients, respectively. Other than these, in 3 patients, 3 different sequence variants associated with GS [c.880_893delinsA (p.Tyr294MetfsTer69) and c.1091CT(p.Pro365Leu)] were detected.We detected 7 TA repeats in the majority of our patients. A mild bilirubin elevation was determined in cases with 6 repetitions that were not considered risky for Gilbert syndrome. We concluded that the c.880_893delinsA (p.Tyr294MetfsTer69) variant, previously shown to be associated with Crigler-Najjar syndrome type I, may also be associated with partial enzyme deficiency leading to the Gilbert syndrome phenotype.

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.

Microvillus inclusion disease is a cause of congenital intestinal intractable diarrhea. Total parenteral nutrition is required throughout life and the patients need intestinal transplantation for survival. The new Coronavirus Disease 2019 (COVID-19) caused a worldwide pandemic in January 2020. Emergency surgical interventions are suggested to carrying out by taking appropriate measures during the pandemic period. In this case report, we aimed to discuss the small bowel transplantation management during the COVID-19 pandemic by presenting a child with microvillus inclusion disease who was underwent emergency small bowel transplantation due to the appropriate cadaveric organ donation.

Autoimmune hepatitis is characterized by inflammation in liver histology, circulating autoantibodies, and increased levels of immunglobulin G, in the absence of a known etiology. There are different clinical types described in children. Because of the presentation of autoimmune hepatitis with different clinical findings, establishment of diagnosis may be difficult. In the last two decades, a a 6-fold increase in the incidence of autoimmune hepatitis has been reported thanks to update of diagnostic approaches and the increase in technical possibilities. Autoimmune hepatitis should be considered in the differential diagnosis of any liver disease not caused by viral and metabolic factors. Its association with other clinical conditions such as autoimmune thyroiditis, vitiligo, collagen and connective tissue disorders is already known. Although autoimmune hepatitis is a treatable disorder, it may cause cirrhosis and fulminant hepatitis that need liver transplantation without treatment. In this review, we aimed to present the clinical findings, diagnosis and treatment methods of autoimmune hepatittis in children in the light of current literature.

Objective: In celiac disease, a gluten-free diet is required for lifelong. Difficulties experienced by children with celiac disease can also negatively affect caregivers. The aim of this study is to evaluate the anxiety and depression of mothers having a child with celiac disease, and evaluate mothers’ attitude towards their children. Method: Thirty-six children with celiac disease, their mothers, and 36 healthy controls were included in the study. The Parent Attitude Research Instrument, State–Trait Anxiety Inventory, and the Beck Depression Inventory were completed by all mothers. Results: The mothers of children with celiac disease had significantly higher scores in depression and state-trait anxiety than the mothers of the healthy children. Mothers of children with celiac disease had significantly higher scores in the attitude of overparenting, authoritarian attitude and attitude of hostility and rejection than the mothers of healthy children. Conclusion: This study revealed that having a child with celiac disease might have negative effects on mothers and their attitudes towards their children. Because of psychopathologic risks appropriate psychologic support should be provided for mothers.

Background/aims Functional constipation (FC) is a common problem in childhood. In this study, we aimed to analyze the clinical and sociodemographic findings of patients with FC, parenting behaviors, and psychosocial states of children and parents. Materials and methods According to the Roma III diagnosis criteria, 32 patients with FC and 31 healthy controls were included. Patients' clinical and sociodemographic data set associated with constipation was determined. Strengths and Difficulties Questionnaire was used to screen the emotional and behavioral problems in children. To evaluate the parents and family, Beck Depression Inventory, State-Trait Anxiety Inventory, Parental Attitude Research Instrument were used. Results Emotional and peer problems subscale scores, parental concerns as well as over-parenting attitude were found higher in patients. Significant difference was also observed between the groups in terms of mean score of authoritarian attitude dimensions. Attitude of hostility and rejection and marital discordance was found to be significantly high in patient families. Our study revealed a decrease in the constipation rate with the increasing education level of parents, higher rate of constipation in families with less income than expenses, and lower rate of working mothers in patients with constipation. Parents' depressive symptoms and anxiety level were determined to be considerably higher. Conclusion A mother's low education level, low socioeconomic level, presence of psychological symptoms, and problems of parental attitude-primarily the authoritarian attitude-increase the risk of FC occurrence. Therefore, FC patients and their families should definitely undergo a psychosocial assessment.

Congenital intrahepatic portosystemic shunts are rare in children. Portosystemic venous malformations are characterized by extreme clinical variability. We report a full-term 33-day-old male infant presenting with neonatal jaundice. On physical examination, he had generalized icterus and the liver was palpable 3.5 cm below the right costal margin. He had no other symptoms. Laboratory tests showed AST 632 U/L, ALT 198 U/L, total bilirubin 12.1 mg/dL, conjugated bilirubin 10.2 mg/dL, alkaline phosphatase 753 U/L, GGT 47 U/L and glucose 67 U/L. Colour Doppler ultrasonography showed the left portal vein was more dilated than the right portal branch and communication with dilated left hepatic vein. There was no evidence of portal hypertension, heart failure, hepatopulmonary syndrome and encephalopathy during his hospital stay, so he was discharged from the pediatric department and his parents advised to attend monthly follow-up. Congenital portosystemic shunts are rarely observed in the childhood period. 1 Depending on anatomic characteristics they may be intrahepatic or extrahepatic. 2 Intrahepatic portosystemic shunts (PSS) are observed between the portal vein and hepatic vein or vena cava inferior. 3,4 Small shunts may close themselves before the age of 2 years. 5 With the increase in use of imaging methods, diagnosing PSS has become easier, with an increase in the number of cases reported. 6 Neonatal cholestatis is a frequent complication of PSS. 1 We present a case presenting with neonatal cholestasis diagnosed with congenital intrahepatic PSS.

Introducción. El estreñimiento funcional (EF) es un problema frecuente en la niñez. El objetivo fue investigar los hallazgos alimentarios y antropométricos de los niños con EF. Población y métodos. Se clasificó a los pacientes con EF según Roma IV. El grupo de referencia incluyó a niños sin diagnóstico de EF ni ninguna otra enfermedad. Se incluyó a los niños de los consultorios de gastroenterología pediátrica entre septiembre de 2017 y marzo de 2018. Se registraron peso, estatura e índice de masa corporal. Se usaron los puntajes Z del índice de masa corporal para identificar sobrepeso y obesidad. La desnutrición se definió según Waterlow. Se evaluaron los diarios de alimentación de tres días de ambos grupos; el mismo nutricionista calculó el promedio diario de calorías, fibra, hidratos de carbono, proteínas y grasa. Resultados. Se incluyó a 40 pacientes con EF y 40 controles sanos. Veinticuatro pacientes con EF tenían estatura y peso normales. No hubo diferencias significativas en el promedio diario de calorías, hidratos de carbono, grasa y fibra entre los grupos de EF y de referencia. Si bien la proporción (%) de proteínas en la dieta fue significativamente más baja en los niños con EF, la cantidad de proteínas ingerida a diario estuvo dentro de los límites normales en ambos grupos. Conclusión. La mayoría de los niños con EF tenían estatura y peso normales. No hubo una relación significativa entre el EF y el contenido de hidratos de carbono, grasa y fibra; solo proporciones bajas de proteínas en el EF. 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.

Objetivos. El objetivo de este estudio fue investigar los síntomas psiquiátricos en adolescentes con diagnóstico de gastritis crónica y evaluar el funcionamiento familiar. Métodos. La población estuvo conformada por adolescentes con diagnóstico endoscópico e histopatológico de gastritis crónica sin otra enfermedad crónica adicional.Se midieron los niveles de ansiedad, los niveles de depresión y los síntomas emocionales y conductuales de los adolescentes mediante el cuestionario para trastornos emocionales infantiles relacionados con la ansiedad (Screen for Child Anxiety Related Disorders, SCARED), el inventario de depresión de Beck (Beck Depression Inventory, BDI) y el cuestionario de capacidades y dificultades (Strengths and Difficulties Questionnaire, SDQ). El funcionamiento familiar se evaluó con el instrumento McMaster de evaluación familiar (McMaster Family Assessment Device, FAD). Resultados. Se incluyó a 58 adolescentes en el estudio.Conforme a los resultados de las subescalas del SDQ, los adolescentes con gastritis tenían más trastornos en las dimensiones de problemas emocionales, hiperactividad y relación con los pares, aunque los resultados de problemas conductuales y conducta prosocial fueron normales. En todas las subescalas del instrumento McMaster de evaluación familiar, los puntajes fueron superiores a 2, lo que indica problemas en el funcionamiento familiar. Conclusiones. según este estudio, los adolescentes con gastritis crónica tienen más dificultades en la relación con los pares y en el funcionamiento familiar, y expresan más problemas emocionales. 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.

WOS: 000462484500011, PubMed ID: 30869487, 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.

WOS: 000452898000012, PubMed ID: 30874249, Symptoms of infantile inflammatory bowel disease (I-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 I-IBD. In this article, we describe a case of I-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 I-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.

Colyak hastaligi ve eozinofilik ozefajit genellikle ayri gastrointestinal hastaliklar olarak degerlendirilmekle beraber birliktelikleri beklenenden cok daha fazladir. Burada pozitif colyak serolojisi olan ve endoskopik patoloji sonucunu ile Marsh siniflamasina gore colyak hastaligi tip 3c olarak degerlendirilen 5 yasinda kiz hastayi sunmaktayiz. Diger taraftan hastanin ozefagus mukoza biyopsi orneklerinde her sahada 100 den fazla eozinofilisi mevcuttu ve hasta eozinofilik ozefajit olarak da degerlendirildi. Colyak hastaligi ve eozinofilik ozefajit arasindaki iliski kesin degildir. Bununla birlikte colyak hastaligi olan cocuklarda eozinofilik ozefajit birlikteligine dikkat edilmesi gerekmektedir.

Choledochal cysts are relatively rare congenital anomalies which are characterized by dilatation of the extra-and/or intra-hepatic bile ducts. Pancreatic involvement before choledochal cyst operation might be a risk factor for postoperative pancreatitis. In this case report, we present a patient who had pancreatic enzyme elevation before choledochal cyst operation and who developed acute pancreatitis after surgery.

This study aims to evaluate Helicobacter pylori with clarithromycin resistant genotypes in Manisa region, Turkey. Two hundred patients, who received diagnosis of Helicobacter pylori infection histopathologically, were included. The sex, age and endoscopy indications of the patients were recorded. Polymerase chain reaction method was applied to determine the clarithromycin resistance rate and resistance genotypes at the histologic sections prepared from gastric biopsies that had been embedded in paraffin after fixation by formalin. Helicobacter pylori resistance to clarithromycin was found in 19/200 (9.5%) patients. 10/19 (52.6%) of these clarithromycin-resistant patients had A2143G mutation and 9/19 (47.4%) had A2142G mutation. A2142C mutation on 23S rRNA gene was not detected for any of the patients. Clarithromycin can be used as a first step treatment in the eradication of Helicobacter pylori for the children in our region; if the treatment fails for some patients, clarithromycin resistance, especially A2143G and A2142G mutations should be considered.

Objective The aim of this study was to determine the incidence of coinfection with Helicobacter pylori and intestinal parasitosis in children with chronic abdominal pain (CAP) and to investigate the common risk factors in the development of both infections. Methods Ninety patients with CAP were enrolled in this study. Blood samples of each case were screened for human preformed IgG (HpIgG) antibodies, and stool samples were tested for HpSA and also examined for intestinal parasites by direct wet-mount, formalin-ethyl-acetate concentration, and Trichrome staining procedures. Cellophane tape test was used for Enterobius vermicularis. Children tested positive for HpIgG and/or HpSA were accepted as H. pylori positive. The risk factors were compared with a questionnaire. Results The incidence of Giardia intestinalis was 14.8% in the H. pylori-positive group and was found to be statistically higher than that in the H. pylori-negative group (1.6%). The positivity rates of H. pylori were found to be statistically higher in children attending school and using drinking water from taps. The incidences of parasitosis were significantly higher in children with a low maternal education level and with a history of parasitosis treatment in the family. Conclusion The most common etiologies of CAP in children are H. pylori infection and intestinal parasitosis. Improvement of hygienic conditions would be beneficial in preventing both infections.

Crohn’s disease is an inflammatory disorder and may affect any part of gastrointestinal tract. The signs and symptoms of Crohn’s disease are similar to many other abdominal disorders. Crohn’s disease does not typically present as an acute abdomen. However, Crohn’s disease should be considered in the differential diagnosis of patients with abdominal pain, especially relevant to patients with a long history of vague abdominal complaints and those with unexplained weight loss or growth retardation. In this case report, we present such a patient of acute abdomen admitted to us after appendectomy and diagnosed Crohn’s disease finally.

Özyurt G, Çağan-Appak Y, Karakoyun M, Eliaçık K, Baran M. Father`s role in infantile anorexia. Turk J Pediatr 2018; 60: 608-611. 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.

Oztan MO, Gungor-Takes G, Cagan-Appak Y, Yildiz C, Karakoyun M, Baran M. Management of NSAID-related pyloric obstruction in a child using endoscopic balloon dilatation: A case report. Turk J Pediatr 2018; 60: 765-768. 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.