Association of CFTR gene polymorphisms with papillary thyroid cancer.

The incidence of thyroid cancer has been on the increase in a number of countries, and certain genetic factors associated with the increased incidence of the papillary thyroid cancer (PTC) have been identified. However, little is known about the effect of mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, expressed in the thyroid. We hypothesized and investigated that CFTR single nucleotide polymorphisms (SNPs) may be associated with the risk and/or progression of PTC. A total of 105 PTC patients, confirmed by pathological tests, and 323 controls, without any thyroidal disease, were recruited. One promoter SNP (rs4148682) and one coding SNP (rs213950, Val470Met) in the CFTR gene were analyzed, using direct sequencing. The PTC patients were sub-grouped and compared by their clinical and pathological characteristics of PTC. The results showed that the association between SNPs in the CFTR gene and the development of PTC was statistically insignificant. However, in the clinical and pathological features, rs4148682 was found to be correlated with multifocal tumors, location and cervical node metastasis of PTC. rs231950 was also correlated with multifocal tumors, location and nodal metastasis of PTC. The G allele of rs213950 was correlated with increased risk of multifocal tumors and bilateral lobe location. However, in cervical lymph node metastasis, the A allele of rs213950 was found to reflect high risk. Our study suggests that the CFTR gene polymorphisms studied may not be associated with the development of PTC, but that rs4148682 and rs213950 may be associated with clinical features and prognosis, such as multifocality, location of cancer and cervical lymph node metastasis of PTC.

PDGFRA promoter polymorphisms are associated with the risk of papillary thyroid cancer.

Platelet-derived growth factor (PDGF) acts as a regulator in cancer development and progression. We investigated whether single nucleotide polymorphisms (SNPs) of platelet-derived growth factor receptor α polypeptide (PDGFRA) and platelet-derived growth factor receptor ß polypeptide (PDGFRB) genes are associated with papillary thyroid cancer (PTC) in a Korean population. Two promoter SNPs (rs6554162, -1309A/G and rs1800812, -635G/T) of PDGFRA and one promoter SNP (rs3828610, -202A/C) of PDGFRB were genotyped using direct sequencing in 93 PTCs and 212 controls. Genetic data were analyzed using the SNPAnalyzer Pro, SNPStats and Haploview programs. Two promoter SNPs (rs6554162 and rs1800812) in PDGFRA revealed significant differences between PTC and controls (for rs6554162, p=0.0018 in the codominant model and p=0.0005 in the dominant model; for rs1800812, p=0.016 in the codominant model and p=0.007 in the dominant model). In the analysis of allele frequency, we also found that the A allele of rs6554162 (p=0.004) and the T allele of rs1800812 (p=0.029) were associated with PTC. Additionally, by haplotype analysis, the GG and AT haplotypes consisting of rs6554162 and rs1800812 were associated with PTC (GG, p=0.0033; AT, p=0.0270). However, rs3828610 in PDGFRB showed no significant difference between PTC and controls. The results suggest that PDGFRA promoter SNPs (rs6554162 and rs1800812) may be associated with the risk of PTC.

Comparison of pre- and post-operative stress levels in patients with allergic rhinitis and non-allergic rhinitis.

The effects of stressful events, such as surgery, on patients with allergic diseases are unclear. The aim of this study was to evaluate whether patients with allergic rhinitis (AR) are more susceptible to stress and oxidative stress than non-allergic individuals. 20 AR patients and 20 non-allergic rhinitis (NAR) patients were recruited to this study and underwent nasal septoplasty. To evaluate the degrees of stress and oxidative stress, we collected urine and blood samples 1 day before and 1 day after surgery. Stress was assessed by measuring urine cortisol levels. Oxidative stress was assessed by calculating the balance of reactive oxygen metabolites (ROM) measured by the diacron reactive oxygen metabolites test, and antioxidant capacity (AC) was measured by the biological antioxidant potential test. In both groups, the level of post-operative urine cortisol was significantly higher than the pre-operative level, with no significant difference between the two groups. ROM levels were significantly higher in both groups after surgery than before surgery. The antioxidant capacity of the AR group was lower after surgery than before surgery, while it was greater in the NAR group after surgery. There were no significant differences in pre- or post-operative ROM or AC levels between the two groups. The ROM/AC ratio was significantly higher after surgery in the AR group than it was in the NAR group. The post-operative ROM/AC imbalance of AR patients suggests that these patients might be vulnerable to stress, especially oxidative stress.

Prognosis of patients with recurrent facial palsy.

No studies to date have classified recurrent facial palsy according to the House-Brackmann grade, thus limiting any comparisons between patients with recurrent and primary facial palsy. The aims of the study were to analyze the degree of recovery from recurrent facial palsy and factors affecting the degree of recovery and to compare with patients recovering from primary facial palsy. Seventy-two patients with recurrent facial palsy were treated by the same treatment approach as 1,185 patients with general facial palsy. Underlying disease, palsy side, and extent of recovery were measured. Temporal bone magnetic resonance image (MRI), Electroneurography (ENoG), electromyography (EMG), and initial House-Brackmann grade were assessed and compared by statistical analyses. Recovery rate of facial palsy were compared and related risk factors were analyzed. We found that recovery to better than House-Brackmann grade II was more common in patients with primary (88.4%, 1,047/1,185) than with recurrent (72.2%, 52/72) facial palsy. Recovery was observed in 80.6% (25/31) of patients with recurrence on the ipsilateral side and in 72% (18/25) with recurrence on the contralateral side. The accuracies of ENoG and EMG were 76.4 and 84.7%, respectively. In MRI, 26.4% patients showed enhancement findings. Multivariate logistic regression analysis showed that initiation of treatment within 7 days and unfavorable EMG results were significant risk factors in patients with recurrent facial palsy. The recovery rate was lower in patients with recurrent than with primary facial palsy, but there were no significant differences in recovery rates between recurrences on the ipsilateral and contralateral sides. The prognosis of patients with recurrent facial palsy was associated with initiation of treatment within 7 days, with EMG shown to be the most reliable test.

A Polymorphism (rs1801018, Thr7Thr) of BCL2 is Associated with Papillary Thyroid Cancer in Korean Population.

OBJECTIVES: Among the apoptosis signals, B-cell CLL/lymphoma 2 (BCL2) is a well-known regulator of apoptosis with anti-apoptotic properties. We investigated here whether single nucleotide polymorphisms (SNPs) of the BCL2 were associated with host susceptibility of papillary thyroid cancer (PTC) occurrence and clinicopathologic parameters. METHODS: Ninety-two PTC patients and 222 control subjects were recruited. One promoter SNP (rs2279115, -938A/C) and one synonymous SNP (rs1801018, Thr7Thr) in the BCL2 gene were selected and genotyped using direct sequencing. Multiple logistic regression models were performed to evaluate odds ratios, 95% confidence intervals, and P-values. RESULTS: rs1801018 of the BCL2 gene was not associated with the development of PTC. In the clinicopathologic features, rs1801018 SNP was associated with the number and location. The G allele frequency of rs1801018 in PTC patients with multifocality (13.3%) was about four-fold higher than that in PTC patients with unifocality (3.4%). The G allele frequency of rs1801018 in PTC patients with both lobes (15.4%) was increased by about five-fold, compared to PTC patients with one lobe (3.2%). CONCLUSION: The results suggest that synonymous SNP rs1801018 and the G allele of the BCL2 gene may be associated with the multifocality and bilaterality of PTC in Korean population.

Association between collagen type XI α1 gene polymorphisms and papillary thyroid cancer in a Korean population.

Collagen type XI α1 (COL11A1) gene overexpression has been implicated as a candidate marker of various types of cancers. In this study, we investigated whether coding region single nucleotide polymorphisms (cSNPs) of the COL11A1 gene are associated with papillary thyroid cancer (PTC) in a Korean population. Four cSNPs [rs12731843 (Lys276Asn), rs3753841 (Pro1335Leu), rs1763347 (Gly1516Gly) and rs2229783 (Ile1602Ile)] were genotyped using direct sequencing in 98 PTC patients and 366 control subjects. Logistic regression analysis for each cSNP revealed an association between rs1763347 and PTC in a dominant model [CT/TT vs. CC, p=0.0042, odds ratio (OR)=0.50, 95% confidential interval (CI) 0.31-0.81]. Analysis of allelic frequency showed that the T alleles of rs1763347 and rs2229783 were significantly associated with reduced risk of PTC (p=0.010, OR=0.61, 95% CI 0.42-0.89 in rs1763347; p=0.007, OR=0.62, 95% CI 0.44-0.88 in rs2229783). Additionally, in the analysis of haplotype, the CC haplotype consisting of rs1763347 and rs2229783 was associated with PTC in codominant (p=0.011, OR=1.56, 95% CI 1.11-2.21) and recessive models (p=0.020, OR=1.70, 95% CI 1.09-2.66). The TT haplotype was also associated with PTC in a codominant model (p=0.006, OR=0.58, 95% CI 0.39-0.88). The frequency of the CC haplotype was higher in the PTC patients (0.71) compared to the control subjects (0.61), whereas the frequency of the TT haplotype was lower in the PTC patients (0.20 and 0.30 in PTC patients and control subjects, respectively). The results suggest that the COL11A1 gene may be associated with PTC and, in particular, that the T allele of rs1763347 and rs2229783 may contribute to a reduced risk of PTC.

Association of the oncostatin m receptor gene polymorphisms with papillary thyroid cancer in the korean population.

OBJECTIVES: To investigate the association between papillary thyroid cancer (PTC) and single nucleotide polymorphisms (SNPs) of oncostatin M receptor (OSMR) in the Korean population. METHODS: Retrospective case-control study was done. Eighty-five patients with PTC and 287 controls were studied. One missense SNP (rs2278329, Asp553Asn) and one promoter SNP (rs2292016, -100 G/T) of the OSMR gene were genotyped by direct sequencing. Genetic data were analyzed using the SNPStats, Helixtree, and SNPAnalyzer Pro. PTC patients were dichotomized and compared with respect to the clinicopathologic characteristics. RESULTS: There was no association between genotypes and allele frequencies of OSMR SNPs (rs2278329 and rs2292016) and PTC susceptibility. SNP rs2278329 was significantly associated with tumor size (dominant model; P=0.028; odds ratio [OR], 2.71; 95% confidence interval [CI], 1.12 to 6.57). The A allele was higher in sizes large than 1 cm (32.5% vs. 16.7%; P=0.018; OR, 2.41; 95% CI, 1.17 to 4.98). Regarding the number of tumors, we found no significant association with genotype, however, the A allele was higher in patients with multifocaltiy (33.3% vs. 19.1%; P=0.040; OR, 2.12; 95% CI, 1.03 to 4.34). CONCLUSION: The results suggest that OSMR polymorphism rs2278329 is associated with clinicopathologic characteristics of the tumor growth and multifocality development.

Advantages of intraoral removal over submandibular gland resection for proximal submandibular stones: a prospective randomized study.

OBJECTIVES/HYPOTHESIS: To compare surgical outcomes after intraoral removal of proximal submandibular stones versus traditional submandibular gland (SMG) resection. STUDY DESIGN: : A prospective randomized study. METHODS: Forty-four consecutive patients were diagnosed with proximal submandibular stones in the hilum of the submandibular gland by ultrasonography or computed tomography. All of the patients were randomized to undergo removal of the stones either by an intraoral approach (IORS group, 22 patients) or through SMG resection (SMGR group, 22 patients). We then compared the surgical outcomes between these two groups. RESULTS: Stones in the IORS group were significantly smaller than those in the SMGR group. There was no significant difference in the distance of the stones from the hilum between groups. The mean operation time in the IORS group was significantly shorter than that of the SMGR group. The mean hospital stay of the IORS group was also significantly shorter than that of the SMGR group, and IORS patients felt significantly less pain than did SMGR patients. No patient experienced any complication after surgery with the exception of a single patient who experienced transient and mild neck swelling. CONCLUSIONS: Intraoral removal of proximal submandibular stones has several advantages over SMG resection. Based on our results, we suggest that our intraoral removal method be selected as the primary procedure for the removal of proximal submandibular stones rather than SMG resection.

Hearing abilities at ultra-high frequency in patients with tinnitus.

OBJECTIVES: To compare tinnitus patients who have normal hearing between 250 Hz and 8 kHz with normal controls with regard to the ability of each group to hear extended high-frequency pure tone thresholds. METHODS: We enrolled 18 tinnitus patients, each of whom had a threshold of HL <25 dB and threshold differences of <10 dB between ears at frequencies of 250 and 500 Hz and 1, 2, 4, and 8 kHz. We also enrolled age- and gender-matched normal volunteers (10 ears), for each patient. Extended high frequency pure tone audiometry was performed, and the mean hearing thresholds at 10, 12, 14, and 16 kHz of each tinnitus ear were compared with those of the 10 age- and sex-matched normal ears. RESULTS: Of the 18 patients with tinnitus, 12 had significantly increased hearing thresholds at more than one of the four high frequencies, compared with the normal group. When we assessed results according to frequency, we found that 8 patients had decreased hearing ability at 10 kHz, 10 at 12 kHz, 8 at 14 kHz, and 4 at 16 kHz. CONCLUSION: Some patients with tinnitus who have normal hearing below 8 kHz have decreased hearing ability at extended high-frequencies. Thus, the proportion of patients with tinnitus who have normal hearing over the entire audible range is smaller than in previous reports.