The most prevalent malignancy that complicates both adult and pediatric solid organ transplantation is post‐transplant lymphoproliferative disorder (PTLD). This study aimed to analyze the clinical and pathological characteristics, treatments, and outcomes of Epstein‐Barr virus (EBV) DNAemia and PTLD in pediatric liver transplant recipients. A retrospective chart review was performed on 112 patients less than 18 years of age who underwent isolated orthotopic liver transplantation (OLT) between 2010 and 2022 at Ege University Children's Hospital. Data gathered for 1‐year post‐OLT included age at OLT, EBV, immunoglobulin (Ig)M/IgG status of the donor and recipient, indication for OLT, induction regimen, all immunosuppression levels, date and result of EBV polymerase chain reaction testing, rejection episodes documented by liver biopsy, and the development of PTLD. Forty‐nine patients (43.75%) developed EBV DNAemia (median interval from surgery: 2 months, min–max: 2–36), of which 43 (87.8%) grafts came from living donors, and 6 (12.2%) came from deceased donors. Nine (18.4%) patients died during follow‐up, and eight (16.3%) developed PTLD. Of these 8 patients; five patients developed EBV‐related disease, one child developed hemophagocytic lymphohistiocytosis, one developed aplastic anemia, and one child developed B cell lymphoma. When PTLD patients and without‐PTLD patients were compared, pediatric intensive care unit hospitalization, abnormal bone marrow biopsy findings, lymphadenopathy, age at diagnosis of EBV DNAemia, EBV viral load, tacrolimus (FK 506) pre‐infection, were higher and tacrolimus 1‐month levels were lower in patients with PTLD ( p < 0.05). In logistic regression analysis, we showed that the age at diagnosis of EBV DNAemia was significantly higher in children with PTLD ( p = 0.045; OR: 1.389; 95% CI: 1.007–1.914). PTLD is a rare but severe complication associated with EBV after OLT. This study demonstrated that PTLD is associated with older age, higher tacrolimus blood levels before EBV DNAemia, and higher peak EBV viral load at 1 month of EBV DNAemia.

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.What is Known: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.What is new: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.

Background Vitamin D and its receptor (VDR) effects on the gastrointestinal system are among its most critical multisystemic effects. Methods This study aimed to reveal that VDR gene polymorphisms may constitute a risk factor for necrotizing enterocolitis (NEC). VDR Fok1-Bsm1-Apa single-nucleotide polymorphisms were analyzed in the NEC group (n = 74) and the control group (n = 147). Among 1112 babies at and below 36 weeks of gestational age who were hospitalized between January 2013 and December 2016 with a diagnosis of prematurity, 74 of a total of 148 patients who developed NEC during follow-up (NEC group) were included in the study. When NEC was diagnosed according to clinical and radiological findings and staged using Modified Bell criteria, 9 (12.1%) of 74 babies were stage 1A, 13 (17.5%) stage 1B, and 5 (6.7%) stage 2A, 33 (44.5%) stage 2B, 7 (9.4%) stage 3A, 7 (9.4%) stage 3B. Of 964 babies who did not develop NEC during follow-up, 147 were included as the control group in the study. Genotyping of VDR polymorphisms was assayed by real-time PCR. From 221 premature babies in the NEC and control groups, 2 ml peripheral blood was taken appropriately and meticulously into an EDTA tube. DNA was isolated from these blood samples. DNA amplification was performed using a thermal cycler (Applied Biosystems GeneAmp PCR System 9600). Results When the two groups were compared in terms of the prevalence of VDR Fok1 C/T genotype, it was found that TT genotype increased the risk of NEC by 2.697 times, and there was a significant relationship between TT genotype and the risk of NEC (p = 0.041). Multivariable logistic regression analysis was performed in terms of gestational age, birth weight, VDR gene polymorphism data between NEC and the control group. According to the analysis results, TT polymorphism, increased the risk of disease 4.5 times (p = 0.033). Conclusion Fok 1 C > T polymorphism in the VDR gene plays a role in the development of NEC. Identifying the risk groups by detecting gene polymorphisms that cause increased susceptibility to NEC may assist in the follow-up of these patients and in making early treatment decisions for them. Impact In this study examining the non-bone effects of the genetic differences in vitamin D metabolism in premature babies, Fok 1 polymorphism has been observed to be an essential risk factor for NEC. This is the first study in our country that has investigated the relationship between VDR gene polymorphism and necrotizing enterocolitis among the Turkish population. Identifying the risk groups by detecting gene polymorphisms that cause increased susceptibility to NEC may assist in the monitoring of these patients and in making early treatment decisions for them.

Introduction: The incidence of infections caused by multidrug-resistant pathogens is increasing worldwide, resulting in significant morbidity and mortality. Tigecycline has become a good option because it has a broad spectrum of antibacterial activity. This study aimed to reveal the clinical, microbiological, and laboratory outcomes of hospitalized children treated with tigecycline. Methodology: We retrospectively collected the medical records of the hospitalized pediatric patients treated with tigecycline from April 1, 2018, to Apr 30, 2023, at Ege University Children's Hospital. Demographic features and clinical and laboratory findings were evaluated to determine the efficacy and safety of tigecycline therapy. Results: Sixty-seven patients (65.7% male) with a median age of 6 years (2.5 months-17.5 years) were included. There was an underlying condition in 83.5% of the patients, and 55.2% were immunosuppressed. The most common infections were; lower respiratory tract infections (29.8%), intra-abdominal infections (20.9%), bloodstream infections (17.9%), and soft tissue infections (13.4%), respectively. Acinetobacter spp. (28.4%) was the most isolated microorganism, followed by Klebsiella spp. (19.4%) and Enterococcus spp. (14.9%). Tigecycline was used as a targeted treatment in 76.1% of the patients and was often used as a combination therapy (80.6%) with a median duration of 12 days (range, 2-60 days). Clinical response was achieved in 65.6% of patients, microbiologic response in 62.6%, and treatment failure in 34.3%. No major adverse events were noted during the therapy. Conclusions: Tigecycline, which was mostly preferred in combination therapy, had high clinical response and microbiologic eradication rates, but these rates varied according to infection sites and microorganism species.

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.