Homoplasmy of the G7444A mtDNA and heterozygosity of the GJB2 c.35delG mutations in a family with hearing loss

Objective

Mitochondrial mutations have been shown to be responsible for syndromic as well as non-syndromic hearing loss. The G7444A mitochondrial DNA mutation affects COI/the precursor of tRNA^Ser(UCN), encoding the first subunit of cytochrome oxidase. Here we report on the first Greek family with the G7444A mitochondrial DNA mutation.

Methods

Clinical, cytogenetic, and molecular methods were employed in this study.

Results

We describe the high variability of phenotypes among three family members harboring the G7444A mutation and also the frequent GJB2 c.35delG mutation of the nuclear genome in heterozygosity. Their phenotypes ranged from normal hearing to deafness, while the proband presented with several other symptoms.

Conclusions

The G7444A mitochondrial DNA mutation has been reported in only a few cases worldwide, alone or in cosegregation with other mitochondrial DNA mutations, but to our knowledge, never before in coexistence with the GJB2 c.35delG mutation.     

Single-shot, low-dose intratympanic gentamicin in Ménière disease: role of vestibular-evoked myogenic potentials and caloric test in the prediction of outcome

Objective

The aim of this study was to assess the efficacy and safety of single and low-dose intratympanic gentamicin therapy in patients with Ménière disease and who were monitored both with caloric tests and vestibular-evoked myogenic potentials (VEMPs) to see if VEMPs have an additional role in predicting the efficacy of the drug.

Study design

This is a prospective cohort study.

Setting

Tertiary referral center is the study setting.

Patients

Twenty-five intractable Ménière disease patients were included as the study group.

Intervention(s)

Low-dose (16 mg/mL), single-shot intratympanic gentamicin was applied. VEMP and caloric test were applied 2 weeks after the application.

Main outcome measure(s)

Safety and efficacy of protocol were evaluated at the sixth month postoperatively with tonal audiogram and visual analog scale, respectively.

Results

Mean average pure-tone hearing threshold at 0.5, 1, 2, 4, and 8 kHz was 49.6 and 51.0 dB before and after the application, respectively (P > .05). Mean pretreatment and posttreatment visual analog scale scores of patients were 17.6 mm (10-30 mm) and 74.6 mm (41-100 mm), respectively (P < .01). Posttreatment VEMPs were absent in 17, deteriorated in 2, and not changed in 6 patients. VEMP was a significant predictor of posttreatment visual analog scale score, whereas caloric test was not (P < .01).

Conclusions

Low-dose, single-shot intratympanic gentamicin treatment proved to be effective and safe among intractable Ménière patients. VEMPs obtained at posttreatment second week were significant predictors of patients posttreatment sixth-month dizziness status and vertigo control.     

Auditory brain stem response and otoacoustic emission results in children with end-stage renal disease

Background

Abnormalities in auditory system are frequent in patients with end stage renal disease (ESRD). There is not yet any consensus for the effect of renal failure and hemodialysis on auditory complications. The aim of this study was to evaluate the auditory abnormalities in pediatric ESRD patients undergoing long term hemodialysis and compare the results with those of nondialytic chronic renal failure (CRF) children and controls.

Methods

Children aged 1-16 years were evaluated in three groups: 25 ESRD patients undergoing hemodialysis, 25 nondialytic patients with CRF, and 25 age and sex-matched normal counterparts. Patients with history of otological diseases, ear trauma, diabetes mellitus, receiving ototoxic drugs and syndromes with hearing abnormalities were excluded. The auditory brainstem response (ABR) and otoacoustic emission (OAE) were tested in all subjects. Frequency of cases with abnormal findings was compared between the groups.

Results

The ABR testing was abnormal in 11 (44%) dialytic patients with normal results in all nondialytic CRF cases and controls (p < 0.001). The OAE testing was abnormal in all dialytic patients with abnormal ABR testing results (44%), in 1 (4%) nondialytic CRF patient and in no controls (p < 0.001). There ware no significant differences with regard to age, gender, height, weight, blood pressure, serum levels of blood urea nitrogen (BUN), creatinine, sodium, and potassium, glomerular filtration rate (GFR), duration of dialysis and dialysis adequacy between dialytic patients with and without abnormal results of ABR/OAE testing.

Conclusion

Sensorineural hearing loss is rare among nondialytic pediatric patients with CRF but very common in ESRD children undergoing long term dialysis.     

Acute bacterial rhinosinusitis and its complications in our pediatric otolaryngological department between 1997 and 2006

Objective

A retrospective survey of the number, age, gender, month of admission, type of persistent acute bacterial rhinosinusitis and case history of pediatric patients who did not respond to conservative therapy, and of those who suffered from complications of acute sinusitis.

Methods

The case charts of all children (<19 years of age) admitted to our department between January 1, 1997 and December 31, 2006 with persistent acute bacterial rhinosinusitis that within 14-26 days against the course of appropriate conservative therapy have not recovered and complications of acute sinusitis were subjected to a retrospective review.

Results

Of the 339 patients 182 were admitted with persistent acute bacterial rhinosinusitis and did not respond to conservative therapy and 157 children were diagnosed with secondary complications of acute sinusitis. Males predominated overall (54.8%). The most endangered age range was between 3 and 6 years. The highest number of admissions occurred in March. The maxillary sinus was most frequently involved. Orbital complications were observed in 150 patients: 126 cases of preseptal cellulitis, 9 of orbital cellulitis, 4 of subperiosteal abscess, and 11 of orbital abscess. Further two children were diagnosed with intracranial complications, four patients presented with osteomyelitis and the remaining one exhibited mucocele. Streptococcus pneumoniae was the most commonly cultured pathogen. There were no mortalities, and morbidity occurred in only two cases. The topicality and importance of this subject are illustrated by taking into account of two cases.

Conclusions

The complications of acute rhinosinusitis are challenging, but the prognosis can be favorable. Early diagnosis and surgical drainage procedures in conjunction with aggressive medical management remain the standard of care for these critically ill patients.     

Quantification of vocal tract configuration of older children with Down syndrome: A pilot study

Objective

To quantify the vocal tract (VT) lumen of older children with Down syndrome using acoustic reflection (AR) technology.

Design

Comparative study.

Setting

Vocal tract lab with sound-proof booth.

Participants

Ten children (4 males and 6 females), aged 9-17 years old diagnosed with Down syndrome. Ten typically developing children (4 males and 6 females) matched for age, gender, and race.

Intervention

Each participant's vocal tract measurements were obtained by using an Eccovision Acoustic Pharyngometer.

Main outcome measures

Six vocal tract dimensional parameters (oral length, oral volume, pharyngeal length, pharyngeal volume, total vocal tract length, and total vocal tract volume) from children with Down syndrome and the typically developing children were measured and compared.

Results

Children with Down syndrome exhibited small oral cavities when compared to control group (F(1, 18) = 6.55, p = 0.02). They also demonstrated a smaller vocal tract volumes (F(1, 18) = 2.58, p = 0.13), although the results were not statistically significant at the 0.05 level. Pharyngeal length, pharyngeal volume, and vocal tract length were not significantly different between the two groups.

Conclusion

Children with Down syndrome had smaller oral cavities, and smaller vocal tract volumes. No significant differences were found for pharyngeal length, pharyngeal volume, and vocal tract length between these two groups.     

Congenital external auditory canal stenosis and partial atretic plate

Objectives

To report outcomes of surgery for severe congenital external auditory canal (EAC) stenosis with or without partial atretic plate (PAP).

Design

Retrospective review.

Subjects

Thirteen patients (18 ears) had surgery for severe EAC stenosis with (n = 10, 56%) or without PAP (n = 8, 44%). Indications included severe stenosis with hearing loss, cerumen impactions, and/or canal cholesteatoma. Mean age = 7.8 years (range 0.4-19.9 years). Mean follow up = 5.2 years (range 0.4-10.0 years).

Setting

Tertiary care children's hospital.

Interventions

Nineteen endaural canaloplasties were performed in 17 ears (2 revisions). There was one post-auricular approach. Fifteen tympanoplasties were performed in 13 ears (2 revisions). PAP was reconstructed with drilling to enlarge the bony annulus and fascia grafting to enlarge the tympanic membrane in 10 (56%) ears.

Outcome measures

Patency of EACs; otologic findings; pure tone averages (PTA); complications.

Results

All (100%) EACs had improved patency (≥4 mm). Findings included canal cholesteatoma (2/18, 11%), ossicular fixation (4/18, 22%), stapes abnormality (2/18, 11%), and incudostapedial discontinuity from cholesteatoma (1/18, 6%). Mean preoperative PTA = 38.7 dB HL (range 60-20 dB HL). Mean post-operative PTA = 23.6 dB HL (range 50-6.7 dB HL). Audiologic results were significantly better for cases without PAP (p < .01) and without ossicular fixation (p < .01). There were seven minor and no major complications.

Conclusions

Endaural canaloplasty is safe and effective for providing patent EACs and hearing improvement for severe congenital EAC stenosis. However, since hearing outcomes were worse for cases with PAP and ossicular fixation, alternatives such as hearing aids or BAHA^® may be considered.     

Significance of adjunctive mitomycin C in endoscopic dacryocystorhinostomy

Purpose

The purpose of this study is to observe the effect of intraoperative topical application of mitomycin C (MMC) on the results of endoscopic dacryocystorhinostomy.

Design

This is a prospective, randomized, controlled, single-blind study.

Settings

Hospitalized treatment was done in a tertiary medical college hospital and research center that deals with a predominantly rural population.

Patients

Patients with primary acquired postsaccal obstruction causing chronic dacryocystitis were considered.

Methods

A total of 38 patients were randomized into either a mitomycin group or a control group. Both of these groups were subjected to an identical surgical procedure, except that 0.2 mg/dL of MMC was used in the mitomycin group, whereas normal saline was used in the control group. The follow-up period was at least 6 months. An asymptomatic patient with a visible stoma at nasendoscopy and free flow of saline into the nose with lacrimal syringing after 6 months after surgery was used as criteria for defining a successful result.

Results

The success rate was 82.3% when MMC was used and 85.7% among the controls (P > .05). Granulations, adhesions, and obliterative sclerosis occurred in a similar number of patients of both groups. However, granulations and adhesions did not have a bearing on the success rate in either group.

Conclusion

Mitomycin C did not appear to influence the occurrence of granulations, synechiae, or obliterative sclerosis, nor did it alter the success rate significantly.     

Surgical treatment of acute recurrent throat infections in children

Objective

The purpose of this study was to define the contribute of surgery and watchful waiting in the treatment of feverish episodes and other clinical manifestations related to acute recurrent throat infections in children.

Methods

An observational, retrospective and multi-centric study was carried out on 407 subjects, aged 2-11, with a minimum two-year follow-up. Chi square test and Fisher's test were used for the statistical analysis.

Results

Watchful waiting prevented, similarly to surgery, recurrences of feverish episodes, but did not favourably impact on other clinical manifestations (respiratory obstruction, otitis media, group A beta hemolyticus streptococcus positive laboratory findings) as compared to surgery (p < 0.001).

Conclusions

The higher effectiveness of surgical treatment, as compared to watchful waiting, was documented in the study patients, considering all the clinical manifestations related to acute recurrent throat infections.     

Extending the chinchilla middle ear epithelial model for mucin gene investigation

Objectives

To investigate the expression of recently identified human mucin genes in an in vivo model of the chinchilla middle ear epithelium (CMEE).

Methods

CMEE was harvested, RNA was extracted and primers were designed for RT-PCR to assess for expression of mucin genes Muc6, Muc17 and Muc18. Further sequencing of these genes was also accomplished.

Results

Mucin genes Muc6, Muc17 and Muc18 was assessed and found to be identical to the expression in human and mouse MEE.

Conclusion

This study further characterizes mucin gene expression in the CMEE and provides additional sequence data for chinchilla middle ear genes. The concordance of this gene expression data to that of both the human and mouse models further demonstrates the utility of this animal model in OM investigations.     

Evaluation of cochlear involvement by transient evoked otoacoustic emission test in children with Crimean-Congo hemorrhagic fever

Objective

The aim of this study was to investigate cochlear involvement in child patients with Crimean-Congo hemorrhagic fever (CCHF) disease.

Methods

Twenty-eight CCHF disease patients (56 ears) and 26 sex- and age-matched healthy control subjects (52 ears) were included in the study. Pure-tone audiometry at frequencies 0.25, 0.5, 1, 2, 4, and 6 kHz, immittance measures including tympanometry and acoustic reflex testing, and transient evoked otoacoustic emission (TEOAE) testing were performed in the patients and controls.

Results

The proportion with a result of ‘fail’ for the TEOAE test in the CCHF patients was not statistically significant from the control group (p > 0.05).

Conclusions

CCHF disease does not impair cochlear function in children. The clinical course of CCHF among children seems to be milder than in adults.     

Balloon dilation of the pediatric airway: potential for disaster

Objective

The aim of this study was to report on a serious adverse event during balloon dilation of pediatric subglottic stenosis.

Method

This study is a case report on safety and risk.

Results

Airway balloon dilation risk and consideration of serious complications were re-evaluated.

Conclusions

Airway balloon dilation carries the risk of acute and complete airway obstruction by the development and persistence of subglottic edema. The surgeon has to be aware of the risk and be ready to intervene. Guidelines and precautions outlined for use of balloons should be carefully observed.     

Epistaxis after partial middle turbinectomy: the role of sphenopalatine artery ligation

Purpose

Extensive nasal polyposis could involve the middle turbinate inducing the surgeon to partially remove it. We initiated this retrospective study to evaluate the effect of a partial middle turbinectomy (PMT) on postoperative epistaxis and if sphenopalatine artery ligation (SPAL) could reduce the risk of bleeding in patients without nasal packing.

Material and Methods

Twenty-seven patients with extended bilateral nasal polyposis and submitted to primary functional endoscopic sinus surgery (FESS) with PMT on 40 sides were retrospectively selected. Postoperative bleeding and other complications were evaluated and compared with those of a control group of 27 patients who underwent FESS with middle turbinate preservation on 40 sides. The study group was furthermore divided into 2 groups according to the execution of SPAL. The incidence of postoperative bleeding of both groups and of the 2 parts of the study group was compared using the Fisher exact test.

Results

A SPAL was necessary to stop intraoperative bleeding in 21 (52.5%) sides of the study group patients and in 7 (17.5%) of the control group patients. After surgery, epistaxis occurred in 8 cases (20%) in the PMT group (1 submitted to SPAL) and in 2 (5%) of the control group. The comparison with the Fisher exact test confirmed the major tendency of postoperative bleeding in the study group and in those not submitted to SPAL (P < .05).

Conclusions

Partial middle turbinectomy causes a higher incidence of postoperative bleeding in patients who are not packed during the FESS operation. The execution of SPAL greatly reduces this risk.     

Gold laser tonsillectomy—A safe new method

Objectives

To determine if Gold laser tonsillectomy is an acceptably safe method of removing tonsils by comparing its complication rates to other established methods, namely Coblation tonsillectomy and cold steel dissection tonsillectomy.

Study design

A retrospective review of 748 consecutive patients, ages 2-18, undergoing tonsillectomy at a pediatric teaching institution.

Methods

Tonsillectomy with or without adenoidectomy was performed utilizing either the Gold laser (n = 435), Coblation device (n = 153), or by cold steel dissection (n = 160) between August 2005 and August 2007. Hospital charts were then reviewed to determine the rates of post-tonsillectomy hemorrhage and dehydration requiring hospital admission.

Results

In the Gold laser group there were 7 bleeding events (1.61%) and 7 dehydration admissions (1.61%). The Coblation group had 9 bleeding events (5.88%) and 1 dehydration admission (0.65%). The cold steel group had 1 bleed (0.63%) and 2 dehydration admissions (1.25%). The hemorrhage rate associated with Gold laser tonsillectomy was statistically equivalent to cold steel dissection (p = 0.3710) and significantly lower than in our Coblation control group (p = 0.0286).

Conclusions

Tonsillectomy by means of the Gold laser can be safely performed in the pediatric population.     

Identification of adenoid biofilms with middle ear pathogens in otitis-prone children utilizing SEM and FISH

Objectives

Biofilms have been implicated in the development of several chronic infections. We sought to demonstrate middle ear pathogens in adenoid biofilms using scanning electron microscopy (SEM) and fluorescent in situ hybridization (FISH) with confocal laser scanning microscopy (CLSM).

Methods

Comparative micro-anatomic investigation of adenoid mucosa using SEM and FISH with confocal scanning laser microscopic (CLSM) imaging from patients with recurrent acute otitis media (RAOM).

Results

All otitis-prone children demonstrated biofilm surface area presence greater than 85% by SEM. FISH accompanied by CLSM imaging also demonstrated patchy biofilms All biofilms contained middle ear pathogens and were frequent in polymicrobial distributions: 4 of 6, 4 of 6 and 3 of 6 samples contained Haemophilus influenzae, Streptococcus pneumoniae and Moraxella catarrhalis, respectively.

Conclusions

Dense adenoid biofilms may act as a reservoir for reinfection of the tubotympanum. Aspiration of planktonic middle ear pathogens existing in resistant adenoid biofilms during a viral upper respiratory tract infection may be an important event in the development of RAOM.     

Prevalence of GJB6 mutations in Chinese patients with non-syndromic hearing loss

Objective

To investigate the distribution of GJB6 mutations in Central Chinese population with non-syndromic hearing loss.

Method

Totally 655 hearing impaired patients in Hubei province of China were screened for del(GJB6-D13S1830) deletions by using multiplex PCR and sequencing of GJB6 whole coding region.

Result

The del(GJB6-D13S1830) and other mutations in GJB6 gene were not observed in our study cohort.

Conclusion

The results suggest that GJB6 mutations is not a common cause among Central Chinese population and screening for the mutations of GJB6 can be ranked as unconventional deaf gene test for this population.     

The role of HPV type in Recurrent Respiratory Papillomatosis

Objective

Human Papillomavirus (HPV) 6 and 11 are the aetiological agents responsible for Recurrent Respiratory Papillomatosis (RRP). There is general consensus that HPV11 results in more aggressive disease compared to HPV6.

Method

Pubmed was searched using the terms respiratory papillomatosis, HPV 6 and HPV11. Comparisons were made in the outcomes of HPV6 versus HPV11 positive RRP disease.

Results

There are numerous sub-types or variants of both HPV6 and HPV11. These sub-types have different activities at least in-vitro. The numbers of different HPV types within RRP tissue may be more extensive than initially appeared. This depends specifically upon the HPV types tested for.

Conclusion

The clinical differences between HPV6 and HPV11 disease may not be accurately predictable as these viruses exist in numerous sub-types. Also, RRP tissue may contain more than one subtype or even be co-infected with other viruses that may influence outcome. In-vitro studies upon cell lines are a reasonable starting point for evaluation of these differences.     

A surgical technique for size reduction of exceedingly large tracheal stoma

Objective

After tracheostomy some patients may develop a tracheal stoma of excessive size. Effective application of tracheostomy tube is not possible in those patients.

Patients and methods

Inserted cannula for protection from aspiration or artificial ventilatory assistance becomes easily displaced in two patients with tracheal stoma of excessive size. A simple surgical technique for treatment of large symptomatic tracheal stoma is described in the present study.

Results

A complete symptomatic improvement was noted in those patients after size reduction of the stoma using a new surgical technique.

Conclusion

Surgical size reduction could be helpful in large tracheal stoma in which tracheal tubes could not be secured from dislocation.     

Transnasal endoscopic management of recurrent juvenile nasopharyngeal angiofibroma

Objectives

The purpose of this study was to present our experience with definitive endoscopic surgical management of the recurrent juvenile nasopharyngeal angiofibroma.

Study design

Retrospective study.

Setting

Tertiary care centre.

Materials and methods

This study includes 13 male adolescence patients with recurrent nasopharyngeal angiofibroma who received treatment at our centre between 2005 and 2010. The patient age ranged from 12 to 21 years (mean age, 15.7 years). Endoscopic two surgeons’ technique had been used. Follow up MRI every four months.

Results

Complete removal of the recurrent tumor was achieved in 10 cases. Three patients had incomplete removal with further recurrences. These recurrences were two in lateral wall of the sphenoid sinus (2 patients), and soft palate (one patient).

Conclusion

Recurrent JNAs are residual disease resulting from incomplete removal of the primary tumor. Transnasal endoscopic sinus surgery is an effective method for treating recurrent JNA. Follow up is essential and integral point in management of JNAs.