Mitochondrial diseases are associated with defects of adenosine triphosphate production and energy supply to organs as a result of dysfunctions of the mitochondrial respiratory chain. Biallelic mutations in the YARS2 gene encoding mitochondrial tyrosyl-tRNA synthetase cause myopathy, lactic acidosis, and sideroblastic anemia 2 (MLASA2), a type of mitochondrial disease. Here, we report a consanguineous Turkish family with two siblings showing severe metabolic decompensation including recurrent hypoglycemia, lactic acidosis, and transfusion-dependent anemia. Using whole-exome sequencing of the proband and his parents, we identified a novel YARS2 mutation (c.1303A>G, p.Ser435Gly) that was homozygous in the patient and heterozygous in his parents. This mutation is located at the ribosomal protein S4-like domain of the gene, while other reported YARS2 mutations are all within the catalytic domain. Interestingly, the proband showed more severe symptoms and an earlier onset than previously reported patients, suggesting the functional importance of the S4-like domain in tyrosyl-tRNA synthetase.

Background. Immunoglobulin G4 (IgG4)-related disease (IgG4-RD) is a systemic disorder of unknown etiology characterized by elevated serum IgG4 and tissue infiltration of IgG4-positive plasma cells. The disease was described in the pancreas, aorta, thyroid, salivary glands, periorbital tissues, kidneys, pericardium and lymph nodes. Case. Here in, we report a first pediatric case report of IgG4-related disease who presented with a mass in skeletal muscle i.e., biceps muscle. Conclusion. To the best of our knowledge, the involvement in skeletal muscle has previously not been reported in children.

Objective: This study aimed to evaluate the characteristics of patients admitted to a pediatric intensive care unit for poisoning and the factors associated with their outcomes. Materials and Methods: Patients who were admitted to the pediatric intensive care unit for poisoning over the 11-year period between January 2010 and December 2020 were retrospectively analyzed. The patients’ demographic characteristics, poisoning agent, whether the poisoning was unintentional or intentional (suicide attempt), clinical findings at admission, indication for hospitalization, antidote administered, and supportive and extracorporeal treatments were examined. Results: During the study period, poisonings accounted for 9.4% (436/4653) of pediatric intensive care unit admissions. Of these, 419 patients with complete records were included in the analysis. Drug poisonings accounted for 81.9% of cases (multiple drugs in 38.5%). The most common drug group was central nervous system drugs (47%). Of the symptomatic patients, 56.5% had central nervous system-related findings and 55% had gastrointestinal findings. Before pediatric intensive care unit admission, 52.7% of the patients received activated charcoal and 7.4% received antidote therapy. In the pediatric intensive care unit, 68.9% of patients received no medical treatment, while 71.5% of those who received medical treatment had organ involvement. Multivariate logistic regression analysis to predict whether patients will require treatment during the intensive care follow-up showed that antidote administration before pediatric intensive care unit admission was associated with the need for medical treatment (odds ratio: 25.6, 95% CI: 6.8-96, P < .05). Three patients died, and the mortality rate was 0.72%. Conclusion: Childhood poisoning is a widespread and important problem. Effective management in pediatric emergency and intensive care units contributes to patient survival without sequelae. Cite this article as: Gurbanov A, Çelik NA, Gurbanova L, et al. Clinical and laboratory features and factors determining the outcome in poisoning children in a tertiary pediatric intensive care unit: Eleven years of experience. Turk Arch Pediatr. 2023;58(2):189-196

Hodgkin`s lymphoma (HL) is highly curable disease in its early stages, but in advanced stages, it presents a dilemma when it becomes refractory or relapses after several rounds of chemotherapy. Brentuximab vedotin (BV) is an antibody-drug conjugate that targets the tumor necrosis receptor family protein member CD30 positive malignancies via an anti-CD30 monoclonal antibody linked to monomethyl auristatin-E. In adult and pediatric studies, it has been shown to be an effective salvage therapy for primary refractory HL or relapse after autologous stem cell transplant (ASCT). Between July 2012 and August 2017, we administered BV (1.8 mg/m2 every three weeks; 12 cycles totally) with doxorubucin, vinblastin, dacarbazine (AVD), rituximab + ifosfamide + carboplatin + etoposide (RICE), or bendamustine combination treatment in pediatric HL patients, who were previosuly treated for refractory or relapsed advanced stage HL before (seven patients) or after (one patient) ASCT in our center. After eight BV courses, one patient was able to undergo match unrelated donor (MUD) SCT. Another seven pediatric HL patients, who were not able to go into remission with any other classical HL chemotherapy protocols, received 4-6 courses of BV-AVD and/or RICE/bendamustine. All were able to undergo ASCT after negative positron emission tomography (PET) imaging results. After ASCT, we switched to BV as consolidation therapy until a total of 12 cycles was completed. Patients went into remission after a median 34 (range: 12-42) months from the start of BV treatment. BV is an encouraging, well- tolerated, and effective targeted therapy especially when combined with AVD or when alternated with another targeted therapy combination, including RICE, when needed.

Background. A significant number of children are injured by or die from firearm-related incidents every year, although there is a lack of global data on the number of children admitted to pediatric emergency departments (PEDs) and pediatric intensive care units (PICU) with firearm injuries. This study is the most comprehensive analysis of firearm injuries sustained by children in Turkey to date. Methods. This multicenter, retrospective, cohort study was conducted between 2010 and 2020 with the contributions of the PEDs, PICUs, intensive care units, and surgery departments of university hospitals and research hospitals. Results. A total of 508 children were admitted to hospital with firearm-related injuries in the research period, although the medical records of only 489 could be obtained. Of the total admissions to hospitals, 55.0% were identified as unintentional, 8.2% as homicide, 4.5% as self-harm, and 32.3% as undetermined. The Glasgow Coma Scale (GCS) and ventilation support were found to be the most significant predictors of mortality, while head/neck injury, length of stay (LOS) in the hospital and surgical interventions were found to be the most significant predictors of disability. The overall mortality of firearm-related injuries was 6.3%, and the mortality for children admitted to the PICU was 19.8%. The probability of disability was calculated as 96.0% for children hospitalized with firearm injuries for longer than 75 days. Conclusions. Head/neck injury, LOS in the hospital, and surgical interventions were found to be the most significant parameters for the prediction of disability. Hospitalization exceeding 6 days was found to be related to disability.