bluuebunny/crossref_metadata_2025_split huggingface dataset:
Report on a Novel Mutation, p.Leu213X, in Connexin‐26 Protein
Authors: O'Neill Assunção , Gonçalves Ana C. , Matos Tiago D. , Santos Ricardo , Escada Pedro A. , Fialho Graça , Caria Helena 
Published: August 2013

Objectives:Nonsyndromic sensorineural hearing loss (HL) is predominantly inherited in an autosomal recessive pattern. The DFNB1 locus, at chromosome 13q11‐q12, includes the GJB2 and GJB6 genes, which encode connexin‐26 (Cx26) and connexin‐30 (Cx30), respectively. The objective of this study was to assess the genetic etiology of HL in a Portuguese family, presenting two siblings with nonsyndromic sensorineural moderate and severe HL, respectively.Methods:The individuals from one Portuguese family were evaluated by pure tone audiometry and blood samples were collected for DNA extraction. Polymerase chain reaction (PCR) amplification of GJB2 coding region followed standard methodologies. PCR products were automatically sequenced in both directions. A random control sample of 480 Portuguese individuals was also screened for the GJB2 coding region.Results:A novel mutation, c.638T>A (p.Leu213X), was identified in the GJB2 gene. This nonsense mutation was found in both siblings, and was inherited from their hearing father. Molecular analysis showed that the two siblings were also heterozygous for c.333‐334delAA, a previously described GJB2 deletion, inherited from their hearing mother. The novel mutation wasn't found in the control sample. The mutation p.Leu213X is located to the C‐terminus domain of the connexin‐26 and changes the codon 213, that codes for a highly conserved and slowly evolving residue of this protein, to a STOP codon, leading to the deletion of the last 14 amino acids of the protein.Conclusions:The HL of the two Portuguese siblings is most probably due to the presence of the c.333‐334delAA deletion and the p.Leu213X novel mutation, in compound heterozygosity.
The Role of Otoendoscopy in Detecting Residual and Recurrent Cholesteatoma after Microdissection
Authors: Yau Yuk Y. A. , Mahboubi Hossein , Djalilian Hamid R. 
Published: August 2013

Objectives:Determine the efficacy of otoendoscopy in detecting residual and recurrent cholesteatoma after traditional microdissection.Methods:Retrospective review of 273 consecutive cases on 215 patients who underwent cholesteatoma surgery with or without otoendoscopy from May 2006 to January 2013 at a tertiary referral center. Main outcome measures: The incidence of residual cholesteatoma after microsurgery that was found by angled otoendoscopes, and of recurrent cholesteatoma on second look procedures.Results:Otoendoscopy was used in 48% of the cases. Of the 114 canal wall down mastoidectomies, otoendoscopy was used in 11.7%. There were 47 (17.2%) second look procedures. Of the 124 cases of cholesteatoma surgeries using otoenedoscopy, residual cholesteatoma was found in 66 cases (53.2%). Residual cholesteatoma was most frequently found in the epitympanum (30.7%), followed by the sinus tympani and oval window (each at 9.6%). The overall recurrent cholesteatoma rate found on second look surgery was 5.1% (14 of 273). Cholesteatoma was found in 10 of 27 cases (37%) when otoendoscopy was used in the primary surgery, and in 11 of 20 cases (55%) when otoendoscopy was not used in primary surgery. Residual cholesteatoma was missed by microsurgery but found by otoendoscopy in 8 of 21 cases (38.1%). There was no significant difference in the locations of the residual and recurrent cholesteatoma, found by otoendoscopy or microsurgery (P = 1).Conclusions:Otoendoscopy can decrease the rate of residual and recurrent cholesteatoma and should be included in the armamentarium of all otologists.
Salvage Intratympanic Steroid Therapy for Refractory Idiopathic Sudden Sensorineural Hearing Loss
Authors: Ifeacho Sonna , Heywood Rebecca , Narula Antony A. P. 
Published: August 2013

Objectives:Describe the role of salvage intratympanic steroids (ITS) in refractory cases of idiopathic sudden sensorineural hearing loss and review the results.Methods:Case note review of 24 consecutive adult patients having salvage therapy in an out‐patient setting. At 7‐10 day post‐initial treatment if there was failure of improvement in hearing thresholds, between 1 and 5 injections of intratympanic methylprednisolone (40mg/ml) were administered via a round window cannula (Silverstein MicroWick) or ventilation tube. Post‐ITS hearing thresholds were calculated, with significant improvement in hearing recorded as an average change in threshold equal to or greater than 10dB.Results:The first intratympanic injection was given at a mean of 29 days after the onset of symptoms (range 14‐74 days). Fifty‐two percent (11/21) of patients were considered to have an improvement in their hearing. The mean change in threshold was 24dB. In this group the mean number of days following onset of symptoms at which they presented was 19 days (range 1‐60 days) and the mean number of days after onset of symptoms at which they received their first ITS treatment was 27 days (range 12‐74 days).Conclusions:Approximately half of the patients treated with salvage ITS responded with an improvement in average threshold of 10dB or more, suggesting that patients with SSNHL are a heterogenous group with steroid responsive and non‐steroid responsive pathologies. Salvage ITS can be offered to patients who do not respond to oral steroids with a possible 50% chance of improvement in thresholds.
Scala Tympani Cochleostomy Survey: A Follow‐up Study
Authors: Iseli Claire E. , Adunka Oliver F. , Buchman Craig A. 
Published: August 2013

Objectives:Reassess cochleostomy techniques among North American cochlear implant surgeons after a 6‐year period of widespread education and research on the topic.Methods:A multiple‐choice survey of cochlear implant techniques was distributed to surgeons attending the William House Cochlear Implant Study Group in 2006 and 2012. This survey contained questions regarding routine surgical access and cochleostomy techniques. Responses were anonymous and more than 50% were repeat respondents. Statistical analysis sought changes in technique in the last 6 years.Results:Comparisons between 2006 and 2012 responses revealed no significant changes in the proportion of surgeons identifying the facial nerve or chorda tympani. By contrast, respondents in 2012 were more likely to drill off the round window‐niche overhang (P < 0.001), use a round window insertion (P < 0.001), or make a smaller cochleostomy (P = 0.003). In two images of a trans‐facial recess approach, there was a significant increase in the proportion choosing an inferior or anterior cochleostomy site over a superior location (Image1‐76% in 2006 to 92% in 2012 (P = 0.003), Image 3 78% to 90%, respectively (P = 0.044).Conclusions:This repeat survey documents a change in practice among cochlear implant surgeons. Specifically, scala tympani access techniques now appear to be more consistent with known anatomical relationships in the round window region. These findings may have resulted from the concerted education and research efforts over the last six years.
Varicella‐Zoster Virus‐Specific Cell‐Mediated Immunity in Facial Palsy: Comparison between Hunt Syndrome and Bell's Palsy
Authors: Ichihara Takahiro , Haginomori Shin‐Ichi , Mori Atsuko , Kanazawa Atsuko , Kawata Ryo 
Published: August 2013

Objectives:1) Compare Varicella‐zoster virus (VZV)‐specific cell‐mediated immunity (CMI) in Hunt syndrome to Bell's palsy using IFN enzyme‐linked immunospot (ELISPOT). 2) Examine the role of VZV‐specific CMI for VZV reactivation in the facial nerve in Hunt syndrome.Methods:This prospective study was conducted in our tertiary referral hospital between 2010 and 2012. Six Hunt syndrome and 28 Bell's palsy patients were enrolled. Mononuclear cells were isolated from whole blood and incubated with VZV antigen in culture plates for 40 h. Anti IFN antibody was added and the ELISPOT system counted immunostained spots indicating VZV‐specific CMI. Numbers of spots and the relationship between the spots and days from the onset of palsy were compared between Hunt syndrome and Bell's palsy patients.Results:No difference in the number of spots was observed between Hunt syndrome and Bell's palsy. However, Hunt syndrome showed a strong positive relationship between numbers of spots and days from the onset of palsy (r = 0.87). In the early days, spot numbers in Hunt syndrome were much lower, indicating low VZV‐specific CMI. In contrast, Bell's palsy showed no such relationship (r = ‐0.24).Conclusions:This study indicates that low CMI to VZV may play a role in VZV reactivation in the facial nerve. VZV vaccination may promote VZV‐specific CMI, leading to prevention of Hunt syndrome.
Vestibular Apparatus Dysfunction after External Beam Radiation Therapy for Head and Neck Cancers
Authors: Bhandare Niranjan , Mendenhall William , Morris Christopher G. , Antonelli Patrick J. 
Published: August 2013

Objectives:Radiation therapy (RT) for head and neck cancers (HNC) may be associated with vestibular dysfunction (VD). The goal of this study is to examine the post‐RT incidence of VD in HNC patients receiving RT +/‐ chemotherapy (chemo) and its association with patient and treatment related factors.Methods:Pre and post‐RT records of 376 HNC patients were retrospectively assessed for the presence of possible VD. Dose received by vestibular apparatus was estimated using the CT‐based treatment plan for the patient. Uni‐ and multivariate analyses evaluated the association between various variables and incidence of VD.Results:Subjective vertigo or dizziness was reported in 53(14.5%) patients over a median time of 16 months (range 0 to 36 months). Abnormal elecronystagmography was observed in 41 of 49 (83.6%) tested patients: 24 (48.9%) bithermal caloric stimulation, 8 (16.3%) sinusoidal tracking, and 5 (10.2%) with both. Doses received by vestibular apparatus varied between 45 to 80 Gy. Vestibular RT dose was significantly associated with VD (P < 0.05), but age (>60), gender, fractionation were not. Use of chemo was marginally associated with VD (P = 0.056).Conclusions:Radiation dose to the vestibular apparatus appears to be the primary determinant of VD in HNC patients treated with RT. Further prospective investigation is needed to better understand the effects of RT and chemo‐RT on vestibular apparatus.
Vitamin C Deficiency–Induced Hearing Loss and Ossicular Defect in Transgenic Mice
Authors: Hu Jinwei , Guthrie O'neil , Mohan Subburaman , Jung Timothy T. K. 
Published: August 2013

Objectives:Certain forms of hearing loss (HL) are life‐long disabilities that critically affect the development of language and cognition. Recent studies show that vitamin C (ascorbic acid; AA) can protect from hearing loss; while vitamin C deficiency (VCD) accelerates long bone loss. Humans are particularly sensitive to VCD due to genetically evolved disability to synthesize AA and require dietary supplementation. However, the effect of VCD on the ossicles and the underlying mechanisms have not been understood. In this study we used a transgenic VCD mouse model (sfx mice) to determine whether VCD can affect the maturation of the ossicles.Methods:Auditory function in sfx (GULO‐/‐) and control (GULO+/‐) mice was measured with auditory brainstem responses (ABR) and distortion product otoacoustic emission (DPOAE). The middle ears were dissected and the morphological characteristics of the ossicles in sfx and control mice were evaluated with a stereoscopic microscopy.Results:The sfx mice developed spontaneous fracture and delayed growth at 6 weeks of age. The sfx mice showed significantly increased hearing thresholds in ABR (P < 0.05) and decreased DPOAE (P < 0.05). The bony structures of the external ear canal, middle ear walls and otic capsule of sfx mice were smaller and more friable as compared to control mice. All the ossicles in sfx mice were thinner than that of control mice.Conclusions:These findings suggest that VCD can induce ossicular defect and hearing loss in sfx mice. Further studies will illustrate the underlying mechanisms of ossicular defect related to osteoblast differentiation.
Amoxicillin, Ibuprofen, or Prednisolone Does Not Modify Post‐tonsillectomy Pain in Children: A Randomized Controlled Trial
Authors: Tamashiro Edwin , Azevedo Carolina B. , Carenzi Lucas R. , Valera Fabiana , Anselmo Lima Wilma T. 
Published: August 2013

Objectives:Evaluate the effect of amoxicillin, ibuprofen, or prednisolone on post‐tonsillectomy pain in children.Methods:225 children between 6‐10 years‐old undergoing cold knife adenotonsillectomy/tonsillectomy were included in the study. Pain was monitored in the first seven days after surgery by the parent's (“Parents’ Post‐Operative Pain” ‐PPPM) and child's assignment (“Revised‐Facial Pain Scale” ‐R‐FPS). Pain was also indirectly analyzed by the number of analgesic administration and return to solid food intake. 45 children were randomized into 5 distinct groups, with the respective number of patients analyzed after losses and exclusions: 1) control n = 42; 2) amoxicillin 50mg/kg/day, n = 31; 3) oral prednisolone 0.5mg/kd/day, n = 30; 4) ibuprofen 5mg/kg/dose tid, n = 32; 5) amoxicillin plus prednisolone, n = 37. All groups received oral analgesics (dypirone and acetaminophen) to use as required. PPPM was analyzed by a linear regression model with mixed effects with Tukey post‐test for multiple comparisons (SAS 9.0). R‐FPS and analgesic intake were analyzed by Kruskal‐Wallis. Return to solid intake was analyzed by Wilcoxon test, considering significant when P < 0.05.Results:Multiple comparisons demonstrated that the evolution of pain, matched day‐per‐day among the different groups, was not statistically different either by PPPM or R‐FPS (P > 0.05). The number of analgesic intake was also similar in all groups (P = 0.10) as well as the return to solid food intake (P = 0.41). Also, all groups presented a similar standard of clinical improvement in intervals of two days (P < 0.01).Conclusions:Our data demonstrate that the addition of amoxicillin, ibuprofen, or prednisolone to simple analgesic prescription does not modify post‐tonsillectomy pain in children.
An Anatomic Study of the Suspensory Ligaments of the Anterior Commissure
Authors: Tonn Christopher R. , Spiegel Jeffrey H. 
Published: August 2013

Objectives:Delineate the location and anterior/posterior and superior/inferior orientation of the suspensory ligaments of the anterior commissure attachment of the vocal folds in order to characterize how much of the laryngeal cartilage may be safely removed for aesthetic or oncologic purposes without compromising vocal function.Methods:Study design: anatomic dissection of cadaver larynges. Preserved cadaver larynges were dissected with careful attention to ligamentous attachments to the laryngeal framework of the vocal folds. AP and superior/inferior relationships are described. Removal of various amounts of cartilage around the anterior commissure was correlated with vocal fold length and tension.Results:Our results help to characterize the extent to which laryngeal framework may be removed around the anterior commissure while maintaining vocal fold support.Conclusions:These data may help surgeons to better understand the degree of laryngeal cartilage that may be safely removed in situations of oncologic resection, aesthetic intervention (eg, aesthetic chondrolaryngoplasty), or post‐traumatic reconstruction.
Head and Neck Cancer Mortality, Socioeconomic Status, and Distribution of Otolaryngologists
Authors: Schleiffarth Jack R. , Charlton Mary , Pagedar Nitin A. 
Published: August 2013

Objectives:Assess the relationship between distribution of otolaryngologists and head and neck cancer mortality rates, taking into account measures of socioeconomic status.Methods:We used the number of deaths from head and neck cancer in each U.S. county during 2002‐2009 reported by National Center for Health Statistics. Due to low numbers in many counties, we aggregated counties into the 949 Health Service Areas (HSAs), which reflect hospital referral patterns. We used the Area Resource File to obtain numbers of otolaryngologists, general practice physicians, and dentists, as well as urban/rural designation, poverty rate, educational attainment, median household income, and racial minority proportion for each HSA. The impact of these covariates was evaluated on mortality rates adjusted for age and sex distribution.Results:The crude mortality rate was 4.1/100,000. There were no otolaryngologists in 274 HSAs (median 2, range 0‐351). There were no significant relationships between number of otolaryngologists, general practitioners, or dentists, as continuous variables, and mortality rate. However, HSAs with no otolaryngologists had a higher mortality rate (by 0.32/100,000) than those with one or more otolaryngologist (p=.005). Mortality rates were significantly higher in HSAs with lower median income and greater poverty rate, non‐white population, and proportion of adults without high school education, and also in entirely rural HSAs (P <. 0001). On multivariate analysis, adverse socioeconomic factors and rural status were independently associated with higher mortality (p <. 0001), but presence of an otolaryngologist was not (P =. 23).Conclusions:Socioeconomic factors are stronger independent predictors of head and neck cancer mortality than otolaryngologist distribution.
Children with CHARGE‐Syndrome Associated Hearing Loss
Authors: Felton Mark , Feltham Penny , Henderson Lise , Andrew Rachel , Rothera Michael , Bruce Iain 
Published: August 2013

Objectives:1) Highlight ear anomalies (external, middle, and inner ear) and types of hearing loss in children with CHARGE syndrome (CS). 2) Use cases to discuss surgical options for treating hearing loss in CS children, including bone conduction implants and cochlear implantation.Methods:Six children with CS referred to our tertiary service for management of hearing‐loss were identified. Subsequently, 4 of these children were fitted with a bone conduction implant (Baha® system), and 2 underwent cochlear implantation. For the 4 Baha® system children, free‐field speech audiometry was used to monitor hearing postoperatively. For 3 of the children, Baha® system stability was measured with resonance frequency analysis at surgery and sequentially at follow‐up visits. The two children having cochlear implants were followed up with pure tone audiometry and speech perception scores.Results:Four cases of Baha® system implantation and 2 cases of cochlear implantation in children with CS are discussed including pre‐operative assessment/selection criteria, scans, and surgical planning; operative challenges; implant stability postoperatively and hearing benefit. The mean age at surgery was 9 years 11 months (4 years 9 months to 14 years 10 months), and mean follow‐up was 18 months (6 months to 25 months).Conclusions:Children with CS and mixed hearing‐loss are challenging when considering how best to maximize hearing potential. Some children with CS will also have external ear abnormalities, potentially limiting the use of conventional BTE HAs. Bone conduction implants and cochlear implants are an effective hearing solution for selected children with CS.
Cost‐Benefit Analysis of Polysomnography versus Clinical Assessment Score‐15 (CAS‐15) for Treatment of Pediatric Sleep‐Disordered Breathing
Authors: Konka Anita , Weedon Jeremy , Goldstein Nira A. 
Published: August 2013

Objectives:Determine the cost of medical care using the CAS‐15 versus polysomnography for children with sleep‐disordered breathing in terms of benefit measured by change in quality‐of‐life and behavior scores.Methods:93 patients from our original CAS‐15 study were included. Four clinical measures were used (Child Behavior Checklist [CBCL], OSA‐18, Pediatric Quality of Life Inventory [PedsQL], and AHI). Payment data were obtained for outpatient office visits, sleep laboratory admissions, and hospital admissions for T&A. Cost benefit analysis was performed between initial and final visits for two clinical pathways. In pathway 1, all children had polysomnography (PSG); those with positive studies were referred for T&A. In pathway 2, children with CAS‐15 >32 were referred for T&A regardless of PSG. Treatment costs were calculated in each pathway. Paired t‐test compared intra‐subject mean total cost (pathway 1 vs. pathway 2). Further analyses computed a change score for the 4 clinical measures (follow‐up minus baseline), producing 4 cost‐benefit ratios for each pathway. Paired t‐tests compared the mean of these ratios between the two pathways.Results:Of 65 PSG+ (15 CAS‐), 54 underwent surgery; of 28 PSG‐ (17 CAS‐), 7 underwent surgery. Model estimated costs demonstrate a mean cost benefit of $1172.06USD [SE $214.30] in pathway 2 versus pathway 1 (P<.001). CAS‐15 is also cost‐beneficial versus PSG in 3 of 4 clinical measures (CBCL [P =. 008], OSA‐18 [P <. 001], AHI [P <. 001]).Conclusions:We present evidence that in 3 of 4 clinical measures evaluated, CAS‐15 criterion is cost‐effective over PSG in the treatment of pediatric sleep disordered breathing.
Cystic Lesions of the Jaws in Children: A 15 Year Experience
Authors: Tkaczuk Andrew , Perry Katherine , Caccamese John , Ord Robert , Pereira Kevin 
Published: August 2013

Objectives:Review the clinical presentation, incidence, radiologic features, management, and outcomes of jaw cysts in children treated at a single tertiary care academic institution. Discuss the appropriate work‐up and expected outcomes of children presenting with signs or symptoms suggestive of a jaw cyst.Methods:Retrospective case series of pediatric patients age 16 and under who presented with a cystic lesion of the jaw to a tertiary care academic medical center from 1997 to 2012. Charts were reviewed for presenting symptoms, signs, radiological findings, pathology, intervention, and outcomes.Results:The charts of 76 pediatric patients evaluated for a jaw mass were reviewed. Twenty‐nine were diagnosed with a cystic jaw lesion. The most common cystic lesions were dentigerous cysts (45%) and odontogenic keratocysts (34%). Forty‐one percent of all cystic lesions were asymptomatic at presentation. The most common presenting complaint was local swelling, followed by incidental findings on panorex and dental irregularities (tooth impaction, gum change, or lesion). All patients, excluding one with an eruption cyst, required surgical intervention. Odontogenic keratocysts tended to have the worst outcomes, with frequent recurrence and an average of 2.5 procedures required.Conclusions:Pediatric jaw cysts are unusual, and data are scarce regarding their presentation and management. Many are asymptomatic and identified by panorex imaging of the jaws. Dentigerous cysts were the most common lesion seen in our series, closely followed by odontogenic keratocysts. Surgical intervention is required in the majority of patients. Odontogenic keratocysts may require additional procedures for cure.