Reyhan Kara

Transient hypogammaglobulinemia and unclassified hypogammaglobulinemia: ‘Similarities and differences’

Keles S, Artac H, Kara R, Gokturk B, Ozen A, Reisli I. Transient hypogammaglobulinemia and unclassified hypogammaglobulinemia: ‘Similarities and differences’.
Pediatr Allergy Immunol 2010: 21: 843–851.
© 2010 John Wiley & Sons A/S

B-cell maturation and antibody responses in individuals carrying a mutated CD19 allele

Homozygous CD19 mutations lead to an antibody deficiency due to disruption of the CD19 complex and consequent impaired signaling by the B-cell antigen receptor. We studied the effects of heterozygous CD19 mutations on peripheral B-cell development and antibody responses in a large family with multiple consanguineous marriages. Sequence analysis of 96 family members revealed 30 carriers of the CD19 mutation. Lymphocyte subset counts were not significantly different between carriers and noncarriers in three different age groups (0–10 years; 11–18 years; adults). B cells of carriers had reduced CD19 and CD21 median expression levels, and had reduced proportions of transitional (0–10 years) and CD5+ B cells (adults). CD19 carriers did not show clinical signs of immunodeficiency; they were well capable to produce normal serum Ig levels and had normal responses to primary and booster vaccinations. The frequency of mutated Vκ alleles was not affected. Heterozygous loss of CD19 causes some changes in the naive B-cell compartment, but overall in vivo B-cell maturation or humoral immunity is not affected. Many antibody deficiencies are not monogenetic, but likely caused by a combination of multiple genetic variations. Therefore, functional analyses of immune cell function should be carried out to show whether heterozygous mutations contribute to disease.

Effects of desflurane, sevoflurane and propofol on phagocytosis and respiratory burst activity of human polymorphonuclear leucocytes in bronchoalveolar lavage

Background and objective In polymorphonuclear leucocytes, phagocytosis and respiratory burst activity are mainly responsible for bacterial killing. We aimed to investigate the effects of anaesthesia with desflurane, sevoflurane and propofol on these functional activities of polymorphonuclear leucocytes in bronchoalveolar lavage fluid. Methods Sixty patients scheduled to have tympanoplasty surgery were studied. The patients were divided into three groups (group D, desflurane; group S, sevoflurane; group P, propofol). Anaesthesia was induced with propofol, fentanyl and rocuronium in all groups. Anaesthesia was maintained with inhalation agent or propofol. Bronchoalveolar lavage was performed immediately after induction of anaesthesia and after surgical procedure by a fibreoptic bronchoscope. Leucocyte respiratory burst and phagocytic activity in bronchoalveolar lavage fluid were determined by flow cytometric analysis of gated leucocyte populations within 2 h after each bronchoalveolar lavage sample. Changes in leucocyte functions with time were expressed as mean fluorescence intensity. Results There were no significant differences in phagocytic activity of polymorphonuclear leucocytes within and between the groups. The respiratory burst function of polymorphonuclear leucocytes showed a significant increase after surgery in group P (P < 0.05). When we compared the differences between the three groups, we found the difference in mean fluorescence intensity as statistically significant between group P and group S. Conclusion This study showed that propofol anaesthesia increased the respiratory burst function of polymorphonuclear leucocytes in bronchoalveolar lavage fluid.

Femtosecond laser induced photodynamic therapy on 5-ALA treated SKMEL-30 cells: An efficient theranostic strategy to combat melanoma

PURPOSE Photodynamic therapy (PDT) is a type of photo-chemotherapy that is based on the application of photosensitizer and irradiation of the region by laser sources. Photosensitizer and light interaction will develop reactive oxygen radicals ((1)O2) in the cells and elimination of cells by apoptosis or necrosis. METHODS Metastatic skin cancer cells SKMEL-30 were treated by 5-ALA in dark and then they were irradiated by 90-femtosecond (fs) laser with different pulse powers for different durations. The effects of 5-ALA mediated photodynamic therapy on the cells were determined by XTT proliferation kit and by flow cytometry measurements of Annexin V, 7-AAD and mitochondrial membrane potential alterations. Fluorescent accumulation of protoporphyrin IX was investigated by fluorometry and confocal laser microscope. RESULTS The viability tests for SKMEL-30 cells treated with different 5-ALA doses and femtosecond laser power and durations demonstrated that 635 nm, 45 mW pulse energy at 90 fs laser pulse applications for 60 sec to 1mM 5-ALA exposed cells decreased the cell proliferation by 30%. Flow cytometric measurements exhibit that PDT caused 63% of mitochondria membrane potential alteration, 30% of cell death in the population by apoptosis and 39% of cells by necrosis. There was 1mM 5-ALA exposure that also exhibited about 32% accumulation of fluorescence in the cells. CONCLUSION The pretreatment of the cells with the precursor 5-ALA lets the imaging due to increased protoporphyrin IX fluorescence. This treatment method may be proposed as an effective theranostic strategy for melanoma because of its rapid and effective anticancer consequences.

Would mean platelet volume/platelet count ratio be used as a novel formula to predict 22q11.2 deletion syndrome?

BACKGROUND The diagnosis of 22q11.2 deletion syndrome depends on a time-consuming and expensive method, fluorescence in situ hybridisation (FISH). OBJECTIVES We aimed to determine new parameters which can aid for in the diagnosis of 22q11.2 deletion syndrome. METHODS Twenty two patients with 22q11.2 or 10p13 deletion were evaluated retrospectively. RESULTS Facial-dysmorphism and mental-motor retardation were detected in 100% of patients. Mean platelet (PLT) counts were lower (224,980 versus 354,000, p = 0.001), mean PLT volume (MPV) (9.95 versus 7.07, p = 0.002), and MPV/PLTx105 ratios (5.36 versus 2.08, p < 0.001) were higher in patients with 22q11.2 deletion compared with the control group. Area under the receiver-operator characteristic (ROC) curve was 0.864, sensitivity was 84.6%, specificity was 90.9%, positive predictive value (PPV) was 91.7%, and negative predictive value (NPV) was 83.3% when MPV was 8.6. Area under ROC curve was 0.864, sensitivity was 76.9%, specificity was 90.1%, PPV was 90.1%, and NPV was 76.3% when PLT was 265,500. Area under ROC curve was 0.906, sensitivity was 84.6%, specificity was 100%, PPV was 100%, and NPV was 84.6% when MPV/PLTx105 was 3.3. Expression of PLT surface markers which were not in the GPIb-V-IX receptor complex (CD61, CD41a) increased as the surface area increased, but markers which were in a complex (CD42a, CD42b) did not change. CONCLUSIONS High MPV/PLT value can be a good predictor for the diagnosis of 22q11.2 deletion syndrome. We suggest that in patients with facial dysmorphism and retardation in neurodevelopmental milestones and if MPV≥8.6fl, MPV/PLTx105 ratio≥3.3 and PLT count ≤265,500/mm3, the patients should be tested by FISH analysis to confirm the 22q11.2 deletion. If there are no macrothrombocytes, the 10p13 deletion should be tested in suspected cases.

Değişken immün yetersizlikli çocuk hastalarda klinik ve laboratuvar özellikler Orijinal Araştırma

Aim: Common variable immunodeficiency CVID is a primary immunodeficiency disease characterized by defective antibody production and heterogeneous clinical features We aimed to describe clinical and laboratory features of our patients with CVID Materail and Method: We restrospectively evaluated the records of children diagnosed with CVID from February 2002 to June 2006 and followed up for a mean of 29 7±17 4 2 51 months Results: A total of 10 patients 7 females and 3 males mean age: 9 4±5 1 ranging from 3 to 18 were included in this study All of them were admitted to our clinic due to recurrent bronchopneumonia Nine patients had chronic pulmonary disease at the time of CVID diagnosis and lobectomy had been performed in three patients Serum IgG concentrations were less than 200 mg dl in four patients There was a reduction of at least two serum immunoglobulin levels in six patients Four patients had normal nbsp; IgG levels but two of them had decreased IgM levels and the other two had decreased IgA levels The percentages of B cells was found to be low 1 6 8 9; 5 3±2 8 in all of the patients The inversion in the CD4 CD8 ratio was observed in the peripheral blood lymphocytes of eight patients nbsp; Conclusions: We suggested that CVID should be especially investigated in patients with chronic pulmonary disease Turk Arch Ped 2007; 42: 24 8 Key words: Children chronic pulmonary disease common variable immunodeficiency hypogammaglobulinemia