Purpose Immunological and molecular evaluation of a patient presenting with recurrent infections caused by Streptococcus pneumoniae and low complement component 3 (C3) levels. Methods Immunological evaluation included complement components and immunoglobulin level quantification as well as number and function of T cells, B cells and neutrophils. Serotype-specific immunoglobulin G antibodies against S. pneumoniae capsular polysaccharides were quantified by ELISA in serum samples before and after vaccination with unconjugated polysaccharide vaccine. For the molecular analysis, genomic DNA from the patient and parents were isolated and all exons as well as exon-intron boundaries of the C3 gene were sequenced by Sanger sequencing. Results A 16-year-old male, born to consanguineous parents, presented with recurrent episodes of pneumonia caused by S. pneumoniae and bronchiectasis. The patient showed severely reduced C3 and immunoglobulin A levels, while the parents showed moderately reduced levels of C3. Mutational analysis revealed a novel, homozygous missense mutation in the C3 gene (c. C4554G, p. Cys1518Trp), substituting a highly conserved amino acid in the C345C domain of C3 and interrupting one of its disulfide bonds. Both parents were found to be carriers of the affected allele. Vaccination against S. pneumoniae resulted in considerable clinical improvement. Conclusions We report a novel homozygous mutation in the C3 gene in a patient with concomitant selective IgA deficiency who presented with a marked clinical improvement after vaccination against S. pneumoniae. This observation underlines the notion that vaccination against this microorganism is an important strategy for treatment of PID patients, particularly those presenting with increased susceptibility to infections caused by this agent.

Background. Common variable immunodeficiency (CVID) is a primary immunodeficiency disorder (PID) that typically presents with hypogammaglobulinemia and impaired antibody production. Objectives. This study aimed to promote the awareness of CVID, whose clinical spectrum is quite broad. Methods. The demographic, clinical, and laboratory characteristics of 12 children (seven males and five females) with CVID were analyzed retrospectively. The patients were diagnosed using the diagnostic criteria of the European Society for Primary Immunodeficiencies. Results. The median disease onset age was 7.2±4.1 years, and the mean diagnosis age was 11.6±3.7 years. The diagnosis delay was 4.3±2.6 years, and the parental consanguinity rate was 75%. Most patients presented with recurrent infections, including upper respiratory tract infections (n=8), lower respiratory tract infections (n=9), and gastroenteritis (n=5). In addition, growth retardation (n=9) and bronchiectasis (n=5) were common comorbidities. Two patients presented with autoimmune thrombocytopenia and anemia, and one patient exhibited lung empyema. All the patients had immunoglobulin G deficiencies. Conclusion. CVID is a heterogeneous disease, so the diagnosis is frequently delayed. In the CVID patients with pulmonary complications, relationships were seen with the diagnosis delay, symptom onset age, and lung infection prevalence. Overall, the early diagnosis and treatment of PIDs can preclude life-threatening complications.

Thymoquinone (TQ) is an ingredient of Nigella sativa and Cisplatin (CDDP) is the most active chemotherapeutic agent in lung cancer. The objective of this study was to assess the anticancer effects of TQ in non-small cell lung cancer (NSCLC) cells, and its effect on the peroxisome proliferator-activated receptor gamma (PPAR-γ) pathway. Annexin-V FITC assay was used in the NCI-H460 cell line for apoptosis. The mRNA expression of PPAR-γ, P53, BCL-2, Retinoblastoma (Rb), Cyclin-D1, RELA, Tumor necrosis Factor alpha and in a dose-dependent manner TQ activated caspases 9, 8, 7, and 3 were examined using quantitative real-time reverse transcriptase polymerase chain reaction. PPAR-γ protein levels elevated in all treatment groups, especially in the CDDP + TQ group as observed in mRNA results. In the CDDP + TQ + IR group, the reduction of NF-κB pathway, which provides survival and growth signaling, confirms the potential of this treatment in lung cancer treatment approach similar to p53, Rb, and PPAR-γ results. When the effect of treatment on the viability of NSCLC cells was assessed with flow cytometry analyzes, TQ alone supported death compared to control, cell viability also decreased in the CDDP or IR groups to which TQ was added. As a result, combined therapy of TQ, CDDP, and IR have been shown to increase apoptosis by sensitizing NSCLC cells to IR. These in vitro results are the basis because they demonstrate that it may be useful to include TQ in combined NSCLC cell treatments to reduce tumor progression.

Purpose: Exposure to Environmental Tobacco Smoke (ETS) remains a worldwide public health problem. The purpose of this study was to investigate the relationship between parents' smoking habits at home and children's exposure to environmental tobacco smoke by measuring urinary cotinine levels and urine cotinine/creatinine ratios in children. Materials and Methods: This case-control typed analytical study was conducted with 357 children in the 0-18 age group. The case group consisted of 180 children exposed to environmental cigarette smoke. As the control group, it consisted of 177 healthy children and non-smoking in their family. The levels of cotinine and creatinine in spot urinary were analyzed in both groups. Results: The urinary cotinine level of the children was found to be statistically higher in those whose parents were smokers, female gender, fathers with a low educational level, and those with 3 or fewer rooms in the house. The urinary cotinine/creatinine ratio of the children was found to be statistically higher in those whose parents were smokers (15.91 pg/mg (1.54-147.54) vs 7.90 pg/mg (1.29-68.52)), female gender (13.19 pg/mg (1.79-115.07) vs 10.45 pg/mg (1.29-147.54)). Urinary cotinine levels in the ETS exposed group were affected 1042 times more than in the ETS unexposed group [OR:1042,462, 95% CI (139.821.839-7772.246)]. Conclusion: In the present study, urinary cotinine levels were found to be higher in children exposed to tobacco smoke than in children not exposed to tobacco smoke. In the light of these results, urinary cotinine can be used as a biomarker to evaluate exposure to ETS in children. Educating parents is essential to raising their awareness of exposure to ETS and teaching the right behaviors to protect children's health, especially in the home environment.