Are patients with severe epistaxis caused by hereditary hemorrhagic telangiectasia satisfied with nostril closure surgery?

Objective

Recurrent epistaxis as a manifestation of hereditary hemorrhagic telangiectasia (HHT) is usually difficult to control. Although no treatment is regarded to be completely efficacious, nostril closure is considered a modality of choice for the most severe cases. The cessation of airflow resulting from this procedure can stop bleeding by minimizing risk factors. However, loss of nasal functions is a disadvantage of nostril closure. We conducted a questionnaire survey of patients who underwent nostril closure surgery, regarding the effects and disadvantages of the operation.

Methods

Seven patients were asked questions on issues including frequency and severity of epistaxis pre- and post-operatively, satisfaction of treatment, and impairment in daily living activities.

Results

Most patients reported complete cessation of bleeding. Some still had bleeding, but the frequency and severity were far lower. No transfusions were required in any of the cases. Patients reported some disadvantages, for example, respiratory, olfactory, and phonatory issues. Six out of seven patients were very satisfied with the outcome of surgery.

Conclusion

Nostril closure surgery can remarkably reduce frequency and volume of epistaxis. Our survey indicated that satisfactory results were achieved. However, difficulties caused by complete nasal obstruction varied. Thus, individualized coping strategies are required.     

What is the effect of dizziness on the quality of life for patients with Meniere's disease?

OBJECTIVE: To evaluate the impact of dizziness on quality of life (QOL) in Meniere's disease (MD) patients. METHODS OF STUDY: Fifty definite MD patients were submitted to the Dizziness Handicap Inventory (DHI), in and out of crisis. The DHI scores were correlated to age, sex, race, disease duration, unilateral/bilateral labyrinth involvement, duration/frequency of vertigo attacks, vestibular and auditory function, aural fullness, tinnitus, imbalance and functional disabilities. Statistical analysis was performed by ANOVA. RESULTS: During crisis, all DHI aspects scores were statistically higher (p < 0.001) than out of crisis. Out of crisis, a statistically significant correlation was found between physical, functional and total scores and bilateral involvement. CONCLUSIONS: QOL impairment is worse during a Meniere's crisis. Out of crisis, QOL impairment is greater in patients with bilateral involvement.     

Are intra-tympanically administered steroids effective in patients with sudden deafness? Implications for current clinical practice

Over 60 years since its first report, sudden sensorineural hearing loss (SSNHL) still represents an ill-explained condition, with potentially devastating effects for the quality of life of previously well patients. The present study critically reviewed the available evidence regarding the efficacy of intra-tympanic steroid administration in the treatment of SSNHL. Factors affecting that efficacy were also explored. The literature was systematically reviewed in Medline and other database sources until July 2011, and analyzed through critical analysis of pooled data. The study selection included multi-center prospective randomized control trials, prospective randomized comparative, prospective comparative and prospective studies, retrospective comparative and retrospective studies. The total number of analyzed studies was 43. Intra-tympanic steroids appear to be effective as primary (strength of recommendation A), or salvage treatment (strength of recommendation B) in SSNHL. It is difficult to draw definite conclusions regarding the efficacy of combination therapy. The identification of a time window for effective treatment in the former two approaches yields a grade C strength of recommendation. Primary intra-tympanic treatment is the most effective modality in terms of complete hearing recovery (34.4% cure rate). There is not enough evidence to attribute treatment failures to impaired permeability of the round window membrane. Most complications of intra-tympanic treatment are minor, temporary, and conservatively managed. Intra-tympanic steroids can theoretically provide a more organ-specific treatment in patients with SSNHL. The observation that they seem effective both as primary and salvage treatment modalities with a very low complication rate may have serious implications for current clinical practice.     

Does universal newborn hearing screening identify all children with GJB2 (Connexin 26) deafness? Penetrance of GJB2 deafness

OBJECTIVE: Deafness is the most common neurosensory defect at birth, and GJB2 (connexin 26) mutations are the most frequent genetic cause of hearing loss in many populations. The hearing loss caused by GJB2 mutations is usually congenital in onset and moderate to profound in degree. Considerable phenotypic variation has been noted however, including two anecdotal cases of apparent non penetrance at birth. The objective of this study is to document nine additional children with two pathogenic GJB2 mutations who had non penetrance of hearing loss at birth. DESIGN: Subjects were identified through a national repository which includes deaf probands ascertained primarily from the United States through the Annual Survey of Deaf and Hard of Hearing Children and Youth conducted at the Research Institute at Gallaudet University. The hearing of each of these children had been screened at birth using standard audiologic techniques. Parents were interviewed and available medical records were reviewed. Testing for GJB2 mutations was performed by PCR and sequencing of the entire coding exon in all nine individuals. RESULTS: Using parent interviews and medical records, we documented that all nine children passed newborn audiologic hearing screening. The age at which the hearing loss was subsequently identified in these nine children ranged from 12-60 mo. Of these nine children, 3 were compound heterozygotes and six were homozygous for the 35delG mutation in the GJB2 gene. CONCLUSION: These nine cases demonstrate that current newborn hearing screening does not identify all infants with two GJB2 mutations. These cases suggest that the frequency of non penetrance at birth is approximately 3.8% or higher. It is important to consider connexin deafness in any child with recessive nonsyndromic hearing loss as well as simplex cases with no history of other affected family members even when the newborn hearing screening results were within the normal range.     

What is the correlation between ratings and measures of olfactory function in patients with olfactory loss?

BACKGROUND: Major complaints of many patients with olfactory dysfunction relate to the impairment of quality of life. Nevertheless, it is unclear to what extent there is a correlation between ratings of olfactory abilities/impairment and olfactory function. METHODS: Patients with olfactory dysfunction (n = 152) were examined psychometrically using the "Sniffin' Sticks" test battery. Ratings of olfactory function and ratings of impairment were recorded using visual analog scales. RESULTS: Following standardized olfactory testing, 78 of the 152 patients were categorized as functionally anosmic, 64 as hyposmic, and 10 as normosmic. Groups differed significantly with regard to ratings of olfactory function. Functionally anosmic patients rated impairment to be significantly higher compared with hyposmic and normosmic patients. Ratings of olfactory function correlated significantly with measured olfactory function (r = +0.57) and ratings of impairment (r = -0.30). CONCLUSION: There was a moderate correlation between ratings and measures of olfactory function. On average, functionally anosmic patients recognized their olfactory loss, although, on an individual basis, there were striking differences between measures and ratings of olfactory function.     

prevalence of the gjb2 mutations in deafness patients of different ethnic origins in xinjiang

Objective To investigate GJB2 mutation prevalences in the Uigur and Han ethnic groups in Xinjiang, China, and determine the relationship between ethnicity and GJB2 gene mutations. Methods Information regarding ethnicity of patients' families was obtained through medical records review and/or patient interview. Blood samples were collected from 61 Uigurs and 66 Hans for direct sequencing of the coding region and intron/exon boundaries of the GBJ2 gene. Results Carrier frequency of GJB2 mutations was similar between the Uigur and Han subjects. The GJB2 35delG mutation was seen only in Uigur patients with hearing loss, whereas the 235delC mutation was identified in both Uigur and Han patients. The allelic Frequency of 35delG mutation was 7.4% (9/122) in Uigur deaf students, but none in Han deaf students (0/128) and Uigur controls (0/196). The allelic frequency of GJB2 235delC mutation in Uigur and Han deaf students was 5.7% and 9.8%, and that of 299-300delAT mutation was 0.8% and 5.5%, respectively. V27I and E114G were the most frequent types of polymorphism. Conclusion We found an Asian-specific GJB2 diversity among Uigurs, and comparable GJB2 contribution to deafness in Uigur and Han patients. The high carrier frequency of 35delG in Uigurs (11.5%) is probably defined by gene drift/founder effect in a particular group. Even though GJB2 mutations have been widely reported in the literature, this discussion represents the first report of GJB2 mutations in Chinese multi-ethnic populations.     

Endoscopic medial maxillectomy with preservation of inferior turbinate: how do we do it?

The aim of this study was to describe the endoscopic medial maxillectomy technique with preservation of the inferior turbinate in patients affected by maxillary sinonasal inverted papilloma. We retrospectively reviewed the clinical charts and surgical technique in six patients with paranasal sinus inverted papilloma. There were five males and one female, whose mean age at diagnosis was 60?years ranging between 57 and 65?years. No recurrences were diagnosed, and no nasal crusting was evidenced postoperatively. Nasal breathing was satisfying in all cases. Postoperative epistaxis was not observed, and none of the patients refereed to have epiphora after the surgery. This technique has been successfully performed, showing no recurrence to the present and allowing the preservation of a functional inferior turbinate.     

Cochlear implantation in patients with bilateral deafness caused by otitis media with ANCA-associated vasculitis (OMAAV): A report of four cases

Objective

Antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) without systemic symptoms but with initial symptoms related to the ear, such as hearing loss, otalgia, and dizziness, has recently been reported. We have categorized this condition as otitis media with AAV (OMAAV), and have recently proposed its diagnostic criteria.

What clinical significance do vascular anomalies of the outer ear canal have?

Vascular anomalies of the internal auditory canal (IAC) are relatively common, being found in 20-25% of magnetic resonance imaging (MRI) studies performed in patients with unilateral sensorineural hearing loss. They are usually asymptomatic and their diagnosis is almost always based on MRI, as they are generally undetected by routine clinical examination. Recently, the clinical relevance of these IAC anomalies and the effectiveness of vascular decompression have been debated. We present a series of 7 vascular anomalies of the IAC found in a series of 83 consecutive MRI scans performed in a screening program for IAC and cerebellopontine angle pathology. We reviewed their clinical and radiological presentation to evaluate their clinical relevance. In this series, we found no correlation between the presence of such vascular anomalies and the clinical symptoms that motivated MRI, so we conclude that most of these anomalies were accidental findings.