A Retrospective Analysis of Pediatric Patients Admitted to the Pediatric Emergency Service for Carbon Monoxide Intoxication

Objective: The aim of the study is to analyze the general aspects of cases with carbon monoxide intoxication in order to improve the approach to future patients

Ataxia-telengiectasia: A case report

Ataxia-telengiectasia (AT) is a rare multisystemic autosomal-recessive disease characterized with oculocutaneous telengiectasies, recurrent sinopulmonary infections associated with humoral and cellular immune deficiencies, increased sensitivity to ionizing radiation and susceptibility to malignancies. Prevalence of the disease is known to be 1-3/40000- 100.000

Association of mannose-binding lectin 2 (MBL2) and suppressor of cytokine signaling-1 (SOCS1) gene variants in children with febrile neutropenia

© 2022 Japanese Society of Chemotherapy and The Japanese Association for Infectious DiseasesIntroduction: Febrile neutropenia (FEN) was reported in patients with solid malignancies at a rate of 5–10% and in patients with hematological malignancies at a rate of 20–25%. In our study, we aimed to investigate the effects of mannose-binding lectin 2 (MBL2) (rs1800450) and suppressor of cytokine signaling-1 (SOCS1) (rs33989964) gene variants on patients with FEN. Methods: A total of 123 patients who applied to pediatric emergency department between December 2019–12/2020 included in the study. Thirteen patients were excluded from the study due to the inability to obtain DNA. Demographic-clinical features at initial diagnosis and genotype distributions were recorded. The control group consisted of volunteers with the same ethnicity, age and gender, no active infection, and no consanguinity. Results: CA/CA genotype of SOCS1 was found to be significantly higher in the healthy control group (p = 0.028). AB/BB genotype of MBL2 was significantly higher in FEN patients with a MASCC score of high risk, AA genotype was found to be higher in patients with low risk (p = 0.001). While the rate of microbiologically documented infection (MDI) was significantly lower in patients with the AA genotype of MBL2, it was significantly higher in patients with AA/BB genotypes (p = 0.025). MDI rate in patients with the del/del genotype of SOCS1 was found to be significantly lower than in patients with CA/CA + CA/del genotypes (p = 0.026). Conclusions: In this study, it was revealed that low expression-related MBL2 genotypes were riskier for FEN and also, gene variants associated with high SOCS1 transcription were both protective against FEN and increased the rate of culture-negativity

Serum level of vitamin D and trace elements in children with recurrent wheezing: a cross-sectional study

Background: We aimed to show the relationship between recurrence of wheezing and serum levels of vitamin D, zinc, and copper in wheezy children compared with a healthy group

Burkitt Leukemia With Precursor B-Cell Immunophenotype and Dual Translocation of t(14;18) and t(8;14) in a Child: Case Report and Review of the Literature.

Background: Burkitt leukemia (BL) with the precursor B-cell immunophenotype is a rarely reported condition. The prognosis of such patients is similar to that of classic BL. However, the combination of chromosomal translocations associated with bcl-2 and c-myc rearrangement has a poor prognosis

Glucose 6 phosphate dehydrogenase deficiency: A single-center experience

Objective: This study aims to evaluate the demographic information, clinical and laboratory findings of patients with glucose 6 phosphate dehydrogenase deficiency