Sanjay R. Parikh

Validation of a new grading system for endoscopic examination of adenoid hypertrophy

Objective To propose and validate a new subjective grading system of adenoid size with flexible fiberoptic evaluation. Study Design and Setting Digital video clips of 24 flexible fiberoptic nasopharyngeal exams were presented to 24 examiners (otolaryngology resident and consultant physicians) at a tertiary care institution. Examiners were asked to use the proposed grading system to rate adenoid hypertrophy. Kappa statistical analysis was used to evaluate the degree of intergrader agreement or disagreement. Results Statistical analysis of intergrader agreement demonstrated an overall Kappa score of 0.71 suggesting a “substantial” strength of agreement. The Kappa strength of agreement was found to be 0.83 (almost perfect) among consultant physicians and 0.62 (substantial) among resident physicians. Conclusions The proposed adenoid staging system is a reliable and consistent method of staging adenoid tissue size. Significance This new validated grading system may be a useful standard for reporting adenoid size in future clinical outcome studies.

Pediatric unilateral vocal fold immobility.

Unilateral VFI is a rare entity in the pediatric age group. Initial evaluation should include a thorough history and physical examination, particularly assessing for associated CNS and cardiovascular anomalies. Modalities of investigation include fiberoptic examination, EMG in the older child,diagnostic imaging, and rigid endoscopy. Controversy exists about the relevance of growth centers in the developing larynx, although recent studies dispute their existence. Recovery in idiopathic or congenital cases can occur up to 11 years later, which supports some observation between onset of paralysis and surgical intervention. In cases where the etiology is clear and recovery is not anticipated, a few reported series have demonstrated success with endoscopic injection and thyroplasty techniques. Unlike the case in adults, careful identification of the vocal fold level should be performed in children before implant placement. Further research is necessary to prove prospectively that surgical intervention in the pediatric larynx will not affect subsequent growth. Until this occurs, the otolaryngologist will continue to be challenged with decisions regarding the timing and choice of technique for correction of unilateral VFI in neonates and children.

Doxycycline sclerotherapy for pediatric head and neck macrocystic lymphatic malformations: A case series and review of the literature

OBJECTIVEn(a) To evaluate the efficacy of doxycycline as a percutaneous sclerotherapy agent in pediatric head and neck macrocystic lymphatic malformations (LM) and (b) to review the literature with regard to recent developments in the treatment of lymphatic malformations using sclerotherapy.nnnMETHODSnWe reviewed the medical records and imaging studies of all patients who underwent percutaneous sclerotherapy of macrocystic LM of the head and neck at our institution between June 2005 and May 2010. All studies were reviewed and procedures performed by a single interventional neuroradiologist using computed tomography (CT) guidance. LM were individually cannulated, the contents aspirated, and then injected with doxycycline at concentrations of 10-20 mg/ml. Response to sclerotherapy was determined clinically.nnnRESULTSnSeven patients underwent a total of eight sclerotherapy treatments during the study period. Of the six patients with appropriate follow-up, 67% have experienced complete or near-complete clinical resolution of their LM (1243 days mean follow-up), while 33% have developed recurrent swelling after an initial response following a single doxycycline injection (53 days mean follow-up).nnnCONCLUSIONSnOur institutional results, in combination with recently published findings, support the moderate efficacy and excellent safety profile of percutaneous doxycycline sclerotherapy for macrocystic lymphatic malformations.

Rhino‐sinus involvement in children with obstructive sleep apnea syndrome

Obstructive sleep apnea syndrome (OSAS) is commonly associated with adenotonsillar hypertrophy. We hypothesized that respiratory perturbations extend to other regions of the upper respiratory tract in such children, particularly to rhino‐sinus regions.

GJB2 mutation spectrum in 209 hearing impaired individuals of predominantly Caribbean Hispanic and African descent

OBJECTIVEnThe purpose of the study is to determine whether Caribbean Hispanic and African admixture populations have a paucity of mutations in GJB2, encoding connexin 26.nnnMETHODSnWe reported the paucity of mutations in GJB2 and deletions in GJB6 in Caribbean Hispanic and African admixture populations in the Bronx, NY, in 2007 [1]. We have now collected 102 additional probands with non-syndromic sensorineural hearing impairment (NSHI), for a total of 209. We describe here a presentation of the combined data.nnnRESULTSnOf the 209 probands, 36% have affected family members with NSHI and the rest have sporadic occurrence. Of the familial cases, 43% had a first-degree relative affected, and the remainder a more distant relative. The hearing impairment ranged from unilateral mild to bilateral profound, with 76% exhibiting bilateral NSHI (BLNSHI). The single coding exon of the GJB2 gene was sequenced in 209 probands, PCR screening for del(GJB6-D13S1830) and sequencing of the non-coding exon of GJB2 to look for the known splice site mutation was performed in 32 NSHI patients with a heterozygous variation in GJB2, and multiplex ligation-dependent probe amplification (MLPA) testing of GJB2 and GJB6 exon deletions or amplifications (P163 GJB-WFS1 kit) was done in 70 probands. Eight unrelated individuals had biallelic GJB2 mutations, representing 4% of our entire cohort, or 5% of our probands with BLNSHI. Of 127 probands of Hispanic or African descent with BLNSHI, six (4.7%) had biallelic pathogenic mutations, three (2.3%) had monoallelic mutations and 118 (93%) had no disease-causing mutations in GJB2. At the same time, no major deletions were identified either by PCR screening (del(GJB6-D13S1830)) or by MLPA analysis (GJB2 or GJB6), and no subjects had the known splice site mutation in GJB2.nnnCONCLUSIONnThese results demonstrate that GJB2 is not the major contributor to the genetic basis of NSHI for the Bronx minority admixture populations.

Flexible bronchoscopy and interdisciplinary collaboration in pediatric large airway disease

OBJECTIVEnDemonstrate the benefits of a multidisciplinary pediatric airway team prepared to evaluate and treat otolaryngology patients with flexible bronchoscopy.nnnDESIGNnCase series.nnnSETTINGnTertiary, academic childrens hospital.nnnPATIENTSn10 children (5 male, 5 female age range 2 months-16 years) presenting with complex symptoms potentially referable to large airways.nnnINTERVENTIONnFlexible bronchoscopy for diagnostic (bronchoalveolar lavage, ciliary biopsy, assess ongoing surgical intervention, and rule in or rule out foreign body; N=6) or therapeutic (evacuate bronchial mucus plug, laser subglottis when patient has fused cervical spine, and distal instillation [fibrin glue for bronchopleural fistula and dornase alpha for plastic bronchitis]; N=4).nnnMAIN OUTCOME MEASUREnRetrospectively ask if flexible bronchoscopy and interdisciplinary management improved patient care in these select otolaryngology cases.nnnRESULTSn10/10 patients benefited from interdisciplinary management including flexible bronchoscopy.nnnCONCLUSIONnOur experience illustrates many uses for flexible bronchoscopy in otolaryngology patients, and suggests that an airway team prepared to use flexible bronchoscopy will create opportunities for improved patient care.

Genetic evaluation of American minority pediatric cochlear implant recipients

OBJECTIVEnTo review the results of genetic evaluation of American minority pediatric cochlear implant recipients over a 5-year period.nnnMETHODSnCase series review of pediatric cochlear implant recipients of Caribbean Hispanic and African American admixture descent with severe to profound sensorineural hearing loss at a tertiary care childrens hospital.nnnRESULTSnOut of 28 patients receiving cochlear implants, 14 were of Caribbean Hispanic or African American admixture ancestry. Six (43%) had environmental risk factors for sensorineural hearing loss. Eight (57%) patients had presumed genetic sensorineural hearing loss; two of whom were syndromic and six non-syndromic. Patients with no clear etiology for hearing loss were tested for Gap Junction Beta 2 (GJB2) mutations. Within this admixture group, we found no biallelic mutations in GJB2, while two patients, both with environmental risk factors for sensorineural hearing loss, had monoallelic GJB2 variants. One patient of mixed ethnicity (Caribbean Hispanic, Turkish, Macedonian), not included as part of the 14, had the common Caucasian founder mutation, 35delG, along with a heterozygous polymorphism in the GJB2 gene. This extends previous data showing a paucity of GJB2 mutations in these admixture populations.nnnCONCLUSIONSnWe found no biallelic GJB2 mutations in our admixture cochlear implant population, and two sequence variants of the gene, only one of which was disease causing. This suggests that the incidence of GJB2 mutations in these admixture populations is low. Hence, there may be low cost-benefit of GJB2 mutation analysis in these admixture populations with severe to profound non-syndromic sensorineural hearing loss.

Implantable hearing aids for moderate-to-severe hearing loss

Abstract Common modalities of aural rehabilitation include external hearing aids, cochlear implantation, and bone anchored hearing aids. In recent years, there has been research, development, and application of implantable and semi-implantable hearing aids. These devices act by vibration of the ossicular chain by piezoelectric or electromagnetic energy. Although only recently approved by the U.S. Food and Drug Administration, implantable hearing aids are evolving as a plausable option for patients with sensorineural or conductive hearing loss. Here, we review all current devices and surgical techniques for implantation.

Building a Multidisciplinary Cochlear Implant Team

Cochlear implantation is evolving into a common modality of auditory rehabilitation for the patient with severe to profound sensorineural hearing loss. In order to provide the patient considering cochlear implantation with an understanding of how best to integrate the device into his daily life, adequate evaluation, counseling, and instruction are required. Using the multidisciplinary model, our initial experience has shown that evaluation by specialists in audiology, otolaryngology, speech pathology, pediatric genetics, social work, and child life may lead to better patient and family understanding of cochlear implantation.