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The Journal of laryngology and otology [journal]
- Investigation of ATP6V1B1 and ATP6V0A4 genes causing hereditary hearing loss associated with distal renal tubular acidosis in Iranian families. [Journal Article]
- J Laryngol Otol 2014 Dec; 128(12):1056-9.
Hearing defects are the most common sensory disorders, affecting 1 out of every 500 newborns. ATP6V1B mutations are associated with early sensorineural hearing loss, whereas ATP6V0A4 mutations are classically associated with either late-onset sensorineural hearing loss or normal hearing. ATP6V1B1 and ATP6V0A4 genetic mutations cause recessive forms of distal renal tubular acidosis.Ten unrelated deaf Iranian families with distal renal tubular acidosis were referred to the Genetics Research Centre, University of Social Welfare and Rehabilitation Sciences, Tehran. All exons of the ATP6V1B1 and ATP6V0A4 genes were sequenced in affected family members.We identified a previously reported ATP6V1B1 frameshift mutation (P385fsX441) in two families and a nucleotide substitution in exon 10 (P346R) in three families. In addition, one patient was homozygous for a novel nucleotide substitution in exon 3.ATP6V1B1 genetic mutations were detected in more than half of the families studied. Mutations in this gene therefore seem to be the most common causative factors in hearing loss associated with distal renal tubular acidosis in these families.
- Days of change at the JLO. [Journal Article]
- J Laryngol Otol 2014 Dec; 128(12):1027.
- Diagnosis of incidental thyroid nodules on 18F-fluorodeoxyglucose positron emission tomography imaging: are these significant? [JOURNAL ARTICLE]
- J Laryngol Otol 2014 Dec 15.:1-4.
Objective: To determine the prevalence of thyroid malignancy in the first UK case series of patients with incidentally detected thyroid lesions on 18F-fluorodeoxyglucose positron emission tomography imaging. Methods: A total of 235 patients were evaluated with 18F-fluorodeoxyglucose positron emission tomography imaging. Incidental focal uptake in the thyroid gland was identified in nine patients (3.8 per cent). A retrospective review of their case notes was conducted. Results: The rate of malignancy was 55 per cent. The mean and standard deviation of the maximum standardised uptake value was 13.1 ± 7.3 in those patients with malignancy and a nodule identified as positive on positron emission tomography. This value was 2.8 ± 1.2 in those patients without malignancy but with a nodule identified as positive on positron emission tomography (p = 0.01). A palpable thyroid nodule was more likely in those with malignant lesions (p = 0.14). Conclusion: The prevalence of incidental thyroid lesions found on 18F-fluorodeoxyglucose positron emission tomography in patients with other primary malignancies is low, but the incidence of malignancy in these patients is high. Patients with a palpable thyroid nodule, focal uptake on 18F-fluorodeoxyglucose positron emission tomography and an increased maximum standardised uptake value require further investigation.
- Effects of lignocaine on pressor response to laryngoscopy and endotracheal intubation during general anaesthesia in rigid suspension laryngoscopy. [JOURNAL ARTICLE]
- J Laryngol Otol 2014 Dec 15.:1-7.
Objective: This study aimed to compare the effects of topical and systemic lignocaine on the circulatory response to direct laryngoscopy performed under general anaesthesia. Methods: Ninety-nine patients over 20 years of age, with a physical status of I-II (classified according to the American Society of Anesthesiologists), were randomly allocated to 3 groups. One group received 5 ml of 0.9 per cent physiological saline intravenously, one group received 1.5 mg/kg lignocaine intravenously, and another group received seven puffs of 10 per cent lignocaine aerosol applied topically to the airway. Mean arterial pressures, heart rates and peripheral oxygen saturations were recorded, and changes in mean arterial pressure and heart rate ratios were calculated. Results: Changes in the ratios of mean arterial pressure and heart rate were greater in the saline physiological group than the other groups at 1 minute after intubation. Changes in the ratios of mean arterial pressure (at the same time point) were greater in the topical lignocaine group than in the intravenous lignocaine group, but this finding was not statistically significant. Conclusion: Lignocaine limited the haemodynamic responses to laryngoscopy and endotracheal intubation during general anaesthesia in rigid suspension laryngoscopy.
- Tumour necrosis factor-α/interleukin-10 ratio in patients with obstructive sleep apnoea hypopnoea syndrome. [JOURNAL ARTICLE]
- J Laryngol Otol 2014 Dec 15.:1-6.
Objective: To explore the significance of the tumour necrosis factor-α/interleukin-10 ratio and the effect of continuous positive airway pressure in patients with different degrees of obstructive sleep apnoea hypopnoea syndrome severity. Method: This study comprised 135 patients with obstructive sleep apnoea hypopnoea syndrome and 94 control subjects. Results: Tumour necrosis factor-α and tumour necrosis factor-α/interleukin-10 ratio values were significantly higher in the obstructive sleep apnoea hypopnoea syndrome group than in the control group, but interleukin-10 was significantly lower. Tumour necrosis factor-α/interleukin-10 ratio values increased in line with the severity of obstructive sleep apnoea hypopnoea syndrome. In multivariate analysis, the tumour necrosis factor-α/interleukin-10 ratio correlated positively with the apnoea-hypopnoea index and all indices of obstructive sleep apnoea hypopnoea syndrome, except for age, body mass index and neck circumference. After one month of continuous positive airway pressure therapy, levels of tumour necrosis factor-α decreased; interleukin-10 showed no change. Conclusion: The results suggest that inflammation is activated and anti-inflammatory cytokines are decreased in obstructive sleep apnoea hypopnoea syndrome patients. Tumour necrosis factor-α/interleukin-10 ratio may prove useful for severity monitoring and management of obstructive sleep apnoea hypopnoea syndrome patients, and may reduce the need for polysomnography.
- Loom bands and young children - a tragedy waiting to happen? [JOURNAL ARTICLE]
- J Laryngol Otol 2014 Dec 10.:1-3.
Background:There has been a surge in the popularity of loom bands amongst children in recent months. These small rubber bands, which can be woven together to make colourful bracelets and necklaces, have become the world's most popular toy. Foreign bodies in paediatric nasal and aural cavities are a common presentation to ENT units across the country. Whilst most are removed without incident, foreign bodies in nasal passages represent a potential risk for inhalation, leading to airway obstruction. Method: This paper reports a case series of four paediatric patients who presented with a loom band associated foreign body in the nose over a 7-day period at a district general hospital in Scotland.
Conclusion:Although the four cases presented were resolved without the need for general anaesthetic, the ever-soaring prevalence and popularity of loom bands necessitates a degree of caution and vigilance from parents, retailers and manufacturers alike. We believe there is an urgent need for greater public awareness of their potential hazards.
- Prognostic significance of tumour progression and human papillomavirus in advanced tonsillar cancer classified as stage IVa. [JOURNAL ARTICLE]
- J Laryngol Otol 2014 Dec 8.:1-7.
Objective:To identify clinical factors that can explain the differences in treatment outcome, and examine the value of human papillomavirus infection as a prognostic biomarker in stage IVa tonsillar carcinomas.
Methods:Fifty-nine patients with tonsillar carcinoma classified as stage IVa were retrospectively analysed for survival outcomes according to various clinical factors. Human papillomavirus infection was evaluated using a human papillomavirus DNA chip test and immunohistochemical staining for p16 and p53.
Results:Lower disease-free survival rates were associated with increasing local invasiveness and nodal status. Although human papillomavirus positivity and p16 expression was more common in locally advanced tonsillar carcinomas with advanced nodal status, the overall survival rate was better for patients with human papillomavirus positive, p16-positive tumours.
Conclusion:The disease-free survival rate may differ according to local tumour invasiveness and nodal status, even for stage IVa tonsillar cancers. Human papillomavirus infection may be a useful biomarker for predicting treatment outcomes for stage VIa tumours.
- Usefulness of three-dimensional fluid-attenuated inversion recovery magnetic resonance imaging to detect inner-ear abnormalities in patients with sudden sensorineural hearing loss. [JOURNAL ARTICLE]
- J Laryngol Otol 2014 Dec 8.:1-5.
Objective:Three-dimensional fluid-attenuated inversion recovery magnetic resonance imaging has been used to detect alterations in the composition of inner-ear fluid. This study investigated the association between hearing level and the signal intensity of pre- and post-contrast three-dimensional fluid-attenuated inversion recovery magnetic resonance imaging in patients with sudden-onset sensorineural hearing loss. Method: Three-dimensional fluid-attenuated inversion recovery magnetic resonance imaging was performed in 18 patients with sudden-onset sensorineural hearing loss: 12 patients with mild-to-moderate sensorineural hearing loss (baseline hearing levels of 60 dB or less) and 6 patients with severe-to-profound sensorineural hearing loss (baseline hearing levels of more than 60 dB).
Results:High-intensity signals in the inner ear were observed in two of the six patients (33 per cent) with severe-to-profound sensorineural hearing loss, but not in those with mild-to-moderate sensorineural hearing loss (mid-p test, p = 0.049). These signals were observed on magnetic resonance imaging scans 6 or 18 days after sensorineural hearing loss onset.
Conclusion:The results indicate that three-dimensional fluid-attenuated inversion recovery magnetic resonance imaging is not a useful tool for detecting inner-ear abnormalities in patients with mild sensorineural hearing loss.
- Bacterial biofilm on the sinus mucosa of healthy subjects and patients with chronic rhinosinusitis (with or without nasal polyposis). [JOURNAL ARTICLE]
- J Laryngol Otol 2014 Dec 5.:1-4.
Objective:To study the presence of bacterial biofilm on the sinus mucosa of healthy individuals (controls) and patients with chronic rhinosinusitis with or without nasal polyposis.
Methods:An analytical, prospective and observational study was conducted. Tissue samples were obtained from the sinus mucosa. The bacteria were isolated and typified, and the material was examined for biofilm formation using tissue culture plate, Congo red agar detection and tube methods.
Results:A total of 100 cases were analysed for the presence of biofilm. Bacterial biofilm was present in 26 of 50 disease group cases (52 per cent) and in 4 of 50 control group cases (8 per cent) (p < 0.01).
Conclusion:The presence of biofilm on the mucosa of chronic rhinosinusitis patients offers a possible cause for the persistent inflammation, and for antibiotics resistance and antimicrobial therapy failure. These findings could change the approach to treatment.
- Difficult button battery ear foreign body removal: the magnetic solution. [JOURNAL ARTICLE]
- J Laryngol Otol 2014 Dec 4.:1-2.