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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]

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]