FCN2 c.772G>T polymorphism is associated with chronic adenoiditis and/or tonsillitis, but not -4 A>G and -602 G>A.

OBJECTIVE: Ficolins are complement activating peptides that play a role in the initial host defense against infectious pathogens. In the present study, we investigated the relationship between single nucleotide polymorphisms (SNPs) in the ficolin 2 gene (FCN2) and chronic adenotonsillitis in pediatric cases. STUDY DESIGN: Case-control study. METHODS: A total of 101 pediatric patients diagnosed with chronic adenotonsillitis and 100 healthy children were enrolled in the study. Genotypes of FCN2 promoter SNPs - 602 G>A and -4 A>G, and the exonic SNP c.772G>T were determined by light SNP assay after realtime PCR analysis using genomic DNA samples obtained from peripheral blood samples of all participants. RESULTS: Of the 101 chronic tonsillitis patients, 38 were girls and 63 were boys; the mean age was 5.2 ± 2.3 years. The c.772G>T SNP frequency was significantly higher in chronic adenotonsillitis cases compared to the control group (p = 0.00); however, no significant difference was determined at positions -602 G>A or -4 A>G (p > 0.05). CONCLUSIONS: The FCN2 c.772G>T genotype appears to be associated with predisposition to chronic adenotonsillitis in the pediatric age group. This nucleotide change is likely to influence the level of gene expression and contribute to the development of disease.

Comparison of home-based and outpatient clinic-based intravaginal electrical stimulation for the treatment of urinary incontinence.

AIM: Aim of the study was to compare the effects of outpatient clinic-based versus home-based intravaginal electrical stimulation (ES) for the treatment of urinary incontinence. METHODS: Women applying with the complaint of urinary incontinence and offered ES treatment were divided into outpatient clinic-based or home-based ES. Patients were instructed about home-based ES at the outpatient clinic by certified physiotherapy nurses. Bladder diary, 1-hour pad test, and King's-Health-Questionnaire (KHQ) were performed before and after treatment. ES was applied for 20 minutes, 6-8 weeks with pulses of 10-50 Hz square waves at a 300 µs or 1 ms pulse duration and a maximal output current of 24 to 60 mA with 5-10 Hz frequency, three times/week. RESULTS: Twenty-four patients received outpatient clinic-based, 22 patients received home-based ES. Pad test, bladder diary and pelvic floor muscle strength parameters in both groups improved significantly after treatment, with no significant difference between the two groups. Seven patients (31.8%) were cured, six patients (27.3%) were much improved, and seven patients (31.8%) were improved in the home-based ES group. Nine patients (37.5%) were cured, six patients (25%) were much improved, and six patients (25%) were improved and in the outpatient clinic-based ES group. There was an improvement in quality of life in all domains in both groups when the pretreatment and post-treatment KHQ results were compared, with no significant difference between the two groups. CONCLUSION: Home-based ES is as effective in the treatment of urinary incontinence as outpatient clinic-based ES with significant improvement in objective and subjective parameters.

Deletion of Irf5 protects hematopoietic stem cells from DNA damage-induced apoptosis and suppresses γ-irradiation-induced thymic lymphomagenesis.

Repeated low-dose γ-irradiation (IR) induces thymic lymphoma in mice because of oncogenic mutations propagating from a primitive hematopoietic stem/progenitor cell (HSC) in the bone marrow. It is well known that IR-induced thymic lymphomagenesis is markedly enhanced by p53 deficiency, yet data also indicate that p53-dependent apoptosis can actively drive tumor formation in this model. The latter was recently expounded on by findings from Puma-deficient mice, indicating that loss of this proapoptotic p53 target gene results in protection from IR-induced lymphomagenesis rather than enhanced susceptibility to. Similar to Puma, the transcription factor interferon regulatory factor 5 (Irf5) has been reported as a p53 target gene and is required for DNA damage-induced apoptosis. To date, no studies have been performed to elucidate the in vivo role of IRF5 in tumorigenesis. Given its essential role in DNA damage-induced apoptosis, we explored the tumor suppressor function of IRF5 in IR-induced thymic lymphomagenesis. Somewhat surprisingly, we found that thymic lymphoma development was significantly suppressed in Irf5(-/-) mice as compared with wild-type littermates. Suppression was due, in part, to reduced thymocyte and HSC apoptosis, resulting in reduced compensatory proliferation, and reduced replication stress-associated DNA damage. The observed effects were independent of p53 or Puma as these proteins were upregulated in Irf5(-/-) mice in response to IR. This study demonstrates an important new role for IRF5 in maintaining HSC homeostasis after IR and supports the non-redundant functions of IRF5, p53 and PUMA in DNA damage-induced lymphomagenesis. We propose that IRF5 may be an attractive target for developing therapeutic agents to ameliorate radiation-induced bone marrow injury.

Audiological findings in chronic kidney disease patients with Sagliker syndrome.

Potential hearing loss was found to be high in a 10 patients with chronic kidney disease and Sagliker syndrome. The cause of hearing loss in these subjects remains unknown. We do not know whether those are the results of preexisting renal disease, hemodialysis, or other factors. Thus, future studies will include more subjects with Sagliker syndrome to determine the frequency of hearing loss and to investigate the etiologic factors that cause loss of hearing.