Lysyl oxidase-like 1 polymorphisms in a southwestern Greek cataract population with pseudoexfoliation syndrome.

PURPOSE: The aim of this study was to determine the possible association of rs1048661 and rs3825942 single nucleotide polymorphisms (SNPs) in the lysyl oxidase-like 1 (LOXL1) gene of cataract patients from southwestern Greece with pseudoexfoliation (PEX) syndrome. PATIENTS AND METHODS: Ninety-three patients with PEX syndrome and 74 without PEX syndrome were recruited with the principal diagnosis being cataract. LOXL1 SNPs, rs1048661 and rs3825942, were genotyped by using polymerase chain reaction. RESULTS: The G allele of rs1048661 was found in 96.7% in the PEX group as compared to 80.5% of non-PEX alleles (P=19×10(-4); Odds ratio [OR] =5.37; 95% confidence interval [CI] =1.68-17.12). Similarly, the G allele of rs3825942 was found in 72.1% of the PEX group as compared to 41.8% of non-PEX alleles (P=4×10(-5); OR =3.78; 95% CI =1.98-7.23). The T and A allele frequencies of rs1048661 and rs3825942, respectively, were underrepresented in the PEX group patients as compared to non-PEX group. CONCLUSION: Our data confirm previously reported association between LOXL1 polymorphisms and PEX syndrome in a southwestern Greek population. A significant association was found for the G allele of rs1048661 and rs3825942 demonstrating that the GG haplotype is a high-risk factor for the development of PEX syndrome.

The chondroitin/dermatan sulfate synthesizing and modifying enzymes in laryngeal cancer: expressional and epigenetic studies.

BACKGROUND: Significant biochemical changes are observed in glycosaminoglycans in squamous cell laryngeal carcinoma. The most characteristics are in chondroitin/dermatan sulfate fine structure and proportion, which might be due to differential expression of the enzymes involved in their biosynthesis. The aim of the present work was the investigation in expressional and epigenetic level of the enzymes involved in chondroitin/dermatan sulfate biosynthesis in laryngeal cancer. METHODS: Tissues subjected to total RNA and DNA isolation, and protein extraction. The techniques used in this study were RT-PCR analysis, western blotting and methylation specific PCR. RESULTS: We identified that many enzymes were expressed in the cancerous specimens intensively. Dermatan sulfate epimerase was expressed exclusively in the cancerous parts and in minor amounts in healthy tissues; in the macroscopically normal samples it was not detected. Furthermore, chondroitin synthase I and chondroitin polymerizing factor were strongly expressed in the cancerous parts compared to the corresponding normal tissues. Sulfotransferases, like chondroitin 6 sulfotransferase 3, were highly expressed mainly in healthy specimens. CONCLUSIONS: The study of the various chondroitin/dermatan synthesizing enzymes revealed that they were differentially expressed in cancer, in human laryngeal cartilage, leading to specific chondroitin/dermatan structures which contributed to proteoglycan formation with specific features. The expression of the examined enzymes correlated with the glycosaminoglycan profile observed in previous studies.

Exfoliation syndrome related to sensorineural hearing loss.

BACKGROUND: To investigate the relationship between exfoliation syndrome and sensorineural hearing loss. METHODS: A prospective study was designed. Patients with evidence of ocular exfoliation syndrome (study group) and individuals without any clinical signs of exfoliation syndrome (control group) were selected. Cases and controls were chosen to have similar demographic characteristics. Study and control group subjects with a history of conditions affecting hearing function were excluded. Pure-tone audiometry was performed in all participants in both groups and hearing thresholds were measured at frequencies of 0.25, 0.5, 1, 2, 4 and 8 kHz (kilohertz) for each ear. RESULTS: A total of 69 subjects participated in the study. The study group included 47 subjects and the control group 22. There was no significant difference in mean age (P = 0.985) and gender (P = 0.378) between groups. Mean pure-tone hearing thresholds were significantly higher in study group at frequencies of 4 kHz (P = 0.004) and 8 kHz (P = 0.001), but not at frequencies of 0.25, 0.5, 1 and 2 kHz. The greatest difference in the comparison of mean hearing thresholds between study and control group was noted at 8 kHz. CONCLUSIONS: The above results are in accordance with previous studies and provide additional evidence of the association between exfoliation syndrome and sensorineural hearing loss at high frequencies. Particular effect was shown on the highest frequency of 8 kHz. These findings may support the systemic nature of exfoliation syndrome.

Taste function evaluation after tonsillectomy: a prospective study of 60 patients.

Tonsillectomy is regarded as a safe procedure, with post-operative taste disturbances rarely reported. The aim of this study was to access taste function after tonsillectomy in a series of 60 patients. Sixty patients (age range 14-40 years; mean 24.4 years; median 21 years; STD 7.7 years), 24 males and 36 females, underwent bilateral tonsillectomy at the University Hospital of Patras, Greece. All patients were diagnosed with recurrent tonsillitis and randomly assigned to two groups. The first group consisted of 27 patients, who underwent tonsillectomy using scissors and raspatory with electrocautery for coagulation. The remaining 33 patients underwent tonsillectomy using pressure-assisted tissue-welding technology. Chemogustometry was used to evaluate the patients' taste function on the first postoperative day and succeedingly, 15 days and 1 month postoperatively. Three different quantities of tastant were used in each test. Taste recognition in posterior tongue regions proved to be more affected compared with anterior tongue regions in the first postoperative day. Bitter and sour tastes were more affected than those of sweet and salty. Succeeding tests yielded near normal results for all patients except two, with one patient achieving normal taste function 1 month postoperatively and the other still facing taste disorders 1 month after tonsillectomy. The results indicate that Tonsillectomy entails a temporary reduction in taste function. This finding should be attributed to direct or indirect intraoperative damage of the glossopharyngeal nerve or unintentional extension of the lingual nerve by application of the tongue retractor. No significant difference was noted between the two operative techniques evaluated in our study. In most cases taste function returns to preoperative levels within 2 weeks postoperatively. Post-tonsillectomy taste disturbances are uncommon, and patients should be informed of this possibility.

Bilateral ossification of the auricles: an unusual entity and review of the literature.

BACKGROUND: True ossification of the auricle with cartilage replacement by bone, is a very rare clinical entity and can result in an entirely rigid auricle. CASE PRESENTATION: We present a rare case of bilateral ossification of the auricles in a 75-years old man with profound progressive rigidity of both auricles. His main complaint was a mild discomfort during resting making sleeping unpleasant without any other serious symptoms. His medical history was significant for predisposing factors for this condition such as, Addison's disease and diabetes mellitus. Excisional biopsy was performed confirming the ossified nature of the auricles. Further treatment deemed unnecessary in our case due to his mild clinical picture. CONCLUSION: True auricular ossification is a quite rare clinical entity with unclear pathogenesis and one should have in mind that there is always the possibility of a serious co-existed disease like endocrinopathy.

Tuberculosis of the parotid gland.

Tuberculosis (Tbc) presented as an isolated parotid mass is rare. Preoperative diagnosis is difficult and the symptomatology is nonspecific. In the majority of the cases an initial diagnosis of a parotid tumor, often a pleomorphic adenoma, is made. We present a 35-year old woman with a six months duration right parotid lump. The mass was firm and nontender without ipsilateral cervical lymphadenopathy, suggesting a parotid neoplasm. The computerized tomography scan showed an intraparotideal tumor resembling a pleomorphic adenoma and thus the patient underwent to a superficial parotidectomy. Fine needle aspiration biopsy was performed but it was not diagnostic. Histological examination revealed an intraparotideal lymph node with changes of granulomatous lymphadenopathy type, like those demonstrated in the tuberculosis and sarcoidosis. Ziehl-Nielsen staining was negative, while the tuberculin skin test (PPD, 5 IU) was positive. The patient's treatment regimen consisted of a 2-month initial phase of isoniazid, rifampin, pyrazinamide and ethambutol followed by a 7 month continuation phase of isoniazid and rifampin. Postoperatively, there was only a mild paresis of the facial nerve resolved a week after. Parotid Tbc is very rare but should be considered as a differential diagnosis of parotid lumps. Fine needle aspiration biopsy (FNAB) is of outmost importance for diagnosis, since the treatment of this entity is primarily conservative. However, surgery could be both therapeutic and diagnostic, especially when other diagnostic examinations fail.

Impaired mucociliary clearance in allergic rhinitis patients is related to a predisposition to rhinosinusitis.

Although mucociliary clearance has been shown to be impaired in patients with allergic rhinitis and chronic rhinosinusitis, its exact role in relation to a predisposition to rhinosinusitis is unknown. To investigate this possible association, we conducted a prospective study of 125 patients with allergic rhinitis. Of this group, 23 patients were classified as being sinusitis-prone based on their history of antibiotic consumption for the treatment of rhinosinusitis; the remaining 102 patients were deemed to be not sinusitis-prone. The saccharine test was used to evaluate mucociliary clearance in all patients. Several variables-age, sex, smoking habits, rhinitis severity, and medication history-were examined. We found that the sinusitis-prone patients had a significantly greater mucociliary clearance time than did those who were not prone (median: 15 and 12 min, respectively; p = 0.02). No other statistically significant differences were seen between the 2 groups with respect to any other variables that might have affected mucociliary clearance. We conclude that impaired mucociliary clearance in allergic rhinitis patients is associated with a predisposition to rhinosinusitis.

Biochemical changes of extracellular proteoglycans in squamous cell laryngeal carcinoma.

Larynx is a complicated organ with peculiar properties, having a noticeable impact in vocal and respiratory physiology. In squamous cell laryngeal carcinoma, the extracellular matrix components underwent significant modifications concerning their fine chemical structure. Degradation of aggrecan is observed, whereas versican and decorin amounts are increased. The expression of aggrecan is almost totally ceased in later cancer stages, whereas decorin is expressed in normal and cancerous samples. But its expression is increased in cancer, being related to cancer stage. However, the expression of versican seems to be characteristic of the tumor, since none or traces expression is observed in normal samples. Chondroitin/dermatan sulfate is the major glycosaminoglycan, but its sulfation shows a shift from C6 position of galactosamine in normal samples to C4 in malignancy. Dermatan sulfate represents minor amounts in normal samples but increases in proportion up to one-fourth of total sulfated glycosaminoglycans in malignancy. In addition, an increase in the amounts of hyaluronan is also observed in malignant samples. Accumulated data demonstrate that tumor progression is closely related to the alteration of the expression and biochemical composition of specific extracellular constituents that describes the mild aggressive phenotype of squamous cell laryngeal carcinoma.

Sinus fluid penetration of oral clarithromycin and azithromycin in patients with acute rhinosinusitis.

BACKGROUND: The aim of this study was to investigate the extracellular concentration and the degree of sinus fluid penetration of newer macrolides, within the first 24-48 hours of treatment in patients with acute bacterial rhinosinusitis (ABRS), choosing clarithromycin and azithromycin as model antibiotics. An open, noninterventional pharmacokinetic study was performed at a tertiary teaching hospital. METHODS: In 36 outpatients with ABRS, sinus fluid aspirates and serum samples were collected 2, 4, 6, 8, and 12 hours or 2, 6, 12, and 24 hours after the administration of three doses of oral clarithromycin, 500 mg, twice daily or two doses of oral azithromycin, 500 mg, once daily, respectively. Drug concentrations were determined in both matrices by high-performance liquid chromatography with fluorometric detection, and the pH was estimated for all sinus fluid samples. RESULTS: The average clarithromycin sinus fluid concentration was found to be significantly higher than the corresponding azithromycin concentration (2.47 mg/L versus 0.65 mg/L), while the extent of the average sinus fluid penetration, expressed by the ratio of drug concentration in tissue versus serum, was similar for both drugs (115 and 120%, respectively). CONCLUSION: In patients with ABRS, clarithromycin and azithromycin present adequate penetration into sinus fluid to eradicate erythromycin-sensitive strains of Streptococcus pneumoniae. Considering their comparative in vitro activity, the sinus fluid pH effect, and their sinus fluid penetration profile, we may conclude that among the erythromycin-resistant S. pneumoniae strains, clarithromycin might be advantageous over azithromycin in eradicating some of the low-level resistant strains.

The effect of nasal steroid administration on intraocular pressure.

The effect of systemic steroid administration on intraocular pressure (IOP) is well established. However less attention has been paid to the effect of steroids when administered in a nasal spray. We conducted a study to investigate a possible association between nasal steroids and elevated IOP in 54 patients who were being treated for allergic rhinitis. IOP was measured before the patients started therapy and thereafter every 5 days during that therapy. Follow-up ranged from 27 to 35 days (mean: 31). Statistical analysis revealed no significant elevation in IOP after nasal steroid administration. It seems that short-term administration of nasal steroids does not cause significant IOP elevation. Nevertheless, their long-term effects on this pressure should be investigated.