Searched for: Department/Unit:Otolaryngology
Early postoperative results in stapedectomy
Sperling, Neil M; Sury, Krishna; Gordon, Jessica; Cox, Shaun
OBJECTIVE: To measure early audiometric changes after primary stapedotomy. STUDY DESIGN: Case series with chart review. SETTING: Academic inner-city hospitals. SUBJECTS AND METHODS: Consecutive patients operated on by the first author were included (only 1 ear in cases of bilateral surgery), and their audiometric results were reviewed. Data were analyzed from 45 ears. Air and bone audiometric measures were analyzed from 5 days post operation and 6 months post operation. Threshold shifts were quantified at 5 days and 6 months post operation. RESULTS: Overall results for the group were good, with 91% of patients achieving an air-bone gap less than or equal to 10 dB by 6 months post operation. Threshold shifts in at least 1 frequency were common at 5 days (62% of patients), but less so at 6 months (36%). Patients with shifts did not have worse overall outcomes at 6 months than those with no shifts. No difference in results was observed for the 2 prostheses used in this series. CONCLUSION: Early audiometric results after stapedectomy commonly reveal worsened bone conduction (postoperative threshold shifts), which may reflect cochlear trauma, but do not lead to poorer outcomes as measured by conventional methods.
PMID: 24107479
ISSN: 0194-5998
CID: 1065252
Atypical Chediak-Higashi syndrome with attenuated phenotype: three adult siblings homozygous for a novel LYST deletion and with neurodegenerative disease
Weisfeld-Adams, James D; Mehta, Lakshmi; Rucker, Janet C; Dembitzer, Francine R; Szporn, Arnold; Lublin, Fred D; Introne, Wendy J; Bhambhani, Vikas; Chicka, Michael C; Cho, Catherine
BACKGROUND: Mutations in LYST, a gene encoding a putative lysosomal trafficking protein, cause Chediak-Higashi syndrome (CHS), an autosomal recessive disorder typically characterized by infantile-onset hemophagocytic syndrome and immunodeficiency, and oculocutaneous albinism. A small number of reports of rare, attenuated forms of CHS exist, with affected individuals exhibiting progressive neurodegenerative disease beginning in early adulthood with cognitive decline, parkinsonism, features of spinocerebellar degeneration, and peripheral neuropathy, as well as subtle pigmentary abnormalities and subclinical or absent immune dysfunction. METHODS: In a consanguineous Pakistani kindred with clinical phenotypes consistent with attenuated CHS, we performed SNP array-based homozygosity mapping and whole gene sequencing of LYST. RESULTS: We identified three individuals homozygous for a novel six base pair in-frame deletion in LYST (c.9827_9832ATACAA), predicting the loss of asparagine and threonine residues from the LYST transcript (p.Asn3276_Thr3277del), and segregating with the phenotype in this family. CONCLUSIONS: We further characterize the neurologic features of the attenuated form of CHS, and discuss pathophysiologic mechanisms underlying the neurodegenerative components of CHS. Attenuated CHS is phenotypically heterogenous and should be considered when young adults develop neurodegenerative disease and have pigmentary abnormalities. We briefly discuss surveillance and management of patients with CHS-related neurodegeneration.
PMCID:3610301
PMID: 23521865
ISSN: 1750-1172
CID: 1037712
Neurofibromatosis type 1 : symptoms, treatment and prognosis
Karajannis, Matthias A; Allen, Jeffrey
Hauppauge, NY : Nova Science Publishers, Inc., 2013
Extent: vi, 202 p.
ISBN: 9781628081657
CID: 1030072
A study of gata3 and phox2b expression in tumors of the autonomic nervous system
Nonaka, Daisuke; Wang, Beverly Y; Edmondson, David; Beckett, Elizabeth; Sun, Chen-Chih J
Autonomic neurons and chromaffin cells, which constitute the autonomic nervous system, are derived from a common progenitor from the neural crest, and its development is controlled by a network of transcription factors, including the master regulator, Phox2b, and its downstream, Gata3. Anti-Phox2b and anti-Gata3 antibodies were applied to a total of 77 autonomic nervous system tumors, including 35 paragangliomas, 21 pheochromocytomas, 9 neuroblastomas, 4 ganglioneuroblastomas, and 8 ganglioneuromas, as well as their potential morphologic mimics, including tumors of the small round cell tumor group, neuroendocrine carcinomas of lung and gastrointestinal tract (carcinoid tumors/neuroendocrine tumors, large cell neuroendocrine carcinomas, and small cell carcinomas), Merkel cell carcinomas, benign and malignant tumors of thyroid, parathyroid, and adrenal cortex, and malignant melanomas. A variety of nonendocrine/neuroendocrine carcinomas were also studied. Gata3 expression was seen in 89% of paragangliomas, 95% of pheochromocytomas, and all neuroblastomas, ganglioneuroblastomas, and ganglioneuromas, as well as in all parathyroid tumors, a majority of urothelial and mammary carcinomas, and a subset of squamous cell carcinomas, but all other tumors were negative. Phox2b expression was seen in all neuroblastomas, ganglioneuroblastomas, and ganglioneuromas and in 40% of paragangliomas, but pheochromocytomas and all other tumors were negative. Gata3 is a highly reliable marker for paragangliomas, pheochromocytomas, and neuroblastic tumors to distinguish from their simulators. This is an additional utility for this marker, which is used for the diagnosis of urothelial and mammary carcinomas. Phox2b is also highly specific, but its low sensitivity to paragangliomas and pheochromocytomas would limit the utility only to neuroblastic tumors.
PMID: 23715162
ISSN: 0147-5185
CID: 982242
Preliminary comparison of bone-anchored hearing instruments and a dental device as treatments for unilateral hearing loss
Moore, Brian C J; Popelka, Gerald R
OBJECTIVE: To compare the effectiveness of two types of treatment for unilateral hearing loss (UHL), bone-anchored hearing instruments (BAHI) and a dental device (SoundBite). DESIGN: Either BAHI or SoundBite were worn for 30 days, and then the devices were swapped and the second device was worn for 30 days. Measures included unaided and aided sound-field thresholds, sound localization, and perception of speech in babble. The APHAB questionnaire was administered for each trial period. STUDY SAMPLE: Nine adult BAHI wearers with UHL. RESULTS: Mid-frequency aided thresholds were lower for SoundBite than for BAHI. Both devices gave benefits for localization after 30 days, but there was no difference between devices. Speech perception was better for both devices than for unaided listening when the target speech came from the poorer hearing side or in front, and the interfering babble came from the better-hearing side. There was no consistent difference between devices. APHAB scores were better for SoundBite than for BAHI. CONCLUSIONS: Speech perception and sound localization were similar for the two types of device, but the SoundBite led to lower aided thresholds and better APHAB scores than the BAHI.
PMID: 23859058
ISSN: 1499-2027
CID: 963212
Long-term outcome of seropositive HIV patients with head and neck squamous cell carcinoma treated with radiation therapy and chemotherapy
Mourad, Waleed F; Hu, Kenneth S; Shasha, Daniel; Concert, Catherine; Ishihara, Dan; Lin, Wilson; Gamez, Mauricio E; Lukens, John J; Shourbaji, Rania A; Ryniak, Magdalena; Li, Zujun; Culliney, Bruce E; Khorsandi, Azita S; Tran, Theresa; Jacobson, Adam; Manolidis, Spiros; Schantz, Stimson; Urken, Mark; Persky, Mark S; Harrison, Louis B
AIM: To report the outcome of radiation therapy (RT) +/- chemotherapy in HIV-seropositive patients with Head and Neck Squamous Cell Carcinoma (HNSCC). PATIENTS AND METHODS: This is the largest single-Institution retrospective study to date, consisting of 73 HIV patients with HNSCC treated from January 1997-2010. The median age at RT, HIV diagnosis and the duration of patients being HIV seropositive were 51, 34, and 11 years, respectively. Seventy patients had SCC and one had submandibular salivary duct carcinoma. Stages I-II, III and IVA/B were: 22%, 27% and 51%, respectively. Primary cancer sites comprised the larynx (37%), oropharynx (32%), oral cavity (13%), hypopharynx (7%), nasopharynx (4%), unknown primary (MUP) (4%), nasal cavity (3%), and submandibular salivary duct (1%). All patients had an ECOG performance scale of =1 and were treated with RT +/- chemotherapy. Fifty patients (70%) were on highly active anti-retroviral therapy (HAART) during treatment, and the median CD4 count was 290 (range: 203-1142). Median dose of 70, 63, and 54 Gy were delivered to the gross disease, high-risk neck, and low-risk neck respectively. Median duration of treatment was 52 (range: 49-64) days. Twelve patients (17%) underwent neck dissection for N3 disease. RESULTS: After a median follow-up of 47 months (range: 7-140), the 4-year locoregional control (LRC) and overall survival (OS) were 69% and 55% respectively. Seven patients (10%) developed second primary sites within the first 5 years of completing RT (2 anal SCCs and 5 HNSCCs). The LRC for Stages III/IV larynx and oropharynx SCC (which represent the majority of the cohort) were 76% and 70%, respectively. Chemo/RT-related late toxicities were dysphagia of grade=2, 3, and 4 found in 74%, 15% and 11% of patients, respectively. Hoarseness (grade 1) was reported in 10% of patients; no patient experienced grade >/=2. Xerostomia grade =2, and 3 was found in 77% and 23% of patients, respectively. A Chi-square test and univariate analysis showed statistically significant relationships between LRC and duration of RT (p<0.001), as well as positive trends for weight loss (<10%) and absence of second malignancy. CONCLUSION: Definitive RT +/- chemotherapy for HIV-seropositive patients with HNSCC appears to be less effective compared to the observed rates of LRC and OS of other HNSCC without HIV. Due to advances in the HAART which prolongs HIV patients' survival, it is extremely important to establish better treatment strategies to improve therapeutic ratio in this growing patient population.
PMID: 24324090
ISSN: 0250-7005
CID: 963292
Intraoperative high-dose-rate radiotherapy in the management of locoregionally recurrent head and neck cancer
Scala, L Matthew; Hu, Kenneth; Urken, Mark L; Jacobson, Adam S; Persky, Mark S; Tran, Theresa N; Smith, Mark L; Schantz, Stimson; Harrison, Louis B
BACKGROUND: The purpose of this article was to present the Beth Israel Medical Center experience using high-dose-rate intraoperative radiotherapy (HDR-IORT) in the management of recurrent head and neck cancer. METHODS: We conducted a retrospective review of all patients with locally or regionally recurrent head and neck cancer who underwent HDR-IORT at our institution between 2001 and 2010. RESULTS: Seventy-six patients were identified who underwent treatment to a total of 87 sites after gross-total resection. The 2-year estimate of in-field tumor control was found to be 62%. Median overall survival was 19 months with 42% of the patients surviving at least 2 years. Significantly longer survival was found for patients achieving in-field control versus infield progression (33 months vs 17 months, respectively; p = .01). CONCLUSION: HDR-IORT is well tolerated and associated with encouraging in-field disease control. In-field control is associated with improved survival. Further study is warranted to more fully investigate HDR-IORT in the salvage setting.
PMID: 23460243
ISSN: 1043-3074
CID: 963282
Why otolaryngologists need to be aware of Fanconi anemia
Lin, Jiahui; Kutler, David I
Fanconi anemia (FA) is a rare disorder inherited in an autosomal recessive fashion, with an estimated incidence of 1:360,000 births. Although hematologic complications are the most common manifestation of this disease, cancers, especially of the head and neck, are also prominent. The chromosomal fragility of patients with FA necessitates careful planning of therapy and monitoring, and awareness of this rare disorder is crucial to recognizing it in the clinic.
PMID: 23910470
ISSN: 0030-6665
CID: 958482
A randomized trial of adenotonsillectomy for childhood sleep apnea
Marcus, Carole L; Moore, Renee H; Rosen, Carol L; Giordani, Bruno; Garetz, Susan L; Taylor, H Gerry; Mitchell, Ron B; Amin, Raouf; Katz, Eliot S; Arens, Raanan; Paruthi, Shalini; Muzumdar, Hiren; Gozal, David; Thomas, Nina Hattiangadi; Ware, Janice; Beebe, Dean; Snyder, Karen; Elden, Lisa; Sprecher, Robert C; Willging, Paul; Jones, Dwight; Bent, John P; Hoban, Timothy; Chervin, Ronald D; Ellenberg, Susan S; Redline, Susan
BACKGROUND: Adenotonsillectomy is commonly performed in children with the obstructive sleep apnea syndrome, yet its usefulness in reducing symptoms and improving cognition, behavior, quality of life, and polysomnographic findings has not been rigorously evaluated. We hypothesized that, in children with the obstructive sleep apnea syndrome without prolonged oxyhemoglobin desaturation, early adenotonsillectomy, as compared with watchful waiting with supportive care, would result in improved outcomes. METHODS: We randomly assigned 464 children, 5 to 9 years of age, with the obstructive sleep apnea syndrome to early adenotonsillectomy or a strategy of watchful waiting. Polysomnographic, cognitive, behavioral, and health outcomes were assessed at baseline and at 7 months. RESULTS: The average baseline value for the primary outcome, the attention and executive-function score on the Developmental Neuropsychological Assessment (with scores ranging from 50 to 150 and higher scores indicating better functioning), was close to the population mean of 100, and the change from baseline to follow-up did not differ significantly according to study group (mean [+/-SD] improvement, 7.1+/-13.9 in the early-adenotonsillectomy group and 5.1+/-13.4 in the watchful-waiting group; P=0.16). In contrast, there were significantly greater improvements in behavioral, quality-of-life, and polysomnographic findings and significantly greater reduction in symptoms in the early-adenotonsillectomy group than in the watchful-waiting group. Normalization of polysomnographic findings was observed in a larger proportion of children in the early-adenotonsillectomy group than in the watchful-waiting group (79% vs. 46%). CONCLUSIONS: As compared with a strategy of watchful waiting, surgical treatment for the obstructive sleep apnea syndrome in school-age children did not significantly improve attention or executive function as measured by neuropsychological testing but did reduce symptoms and improve secondary outcomes of behavior, quality of life, and polysomnographic findings, thus providing evidence of beneficial effects of early adenotonsillectomy. (Funded by the National Institutes of Health; CHAT ClinicalTrials.gov number, NCT00560859.).
PMCID:3756808
PMID: 23692173
ISSN: 0028-4793
CID: 946172
Endotracheal nitinol stents: lessons from the learning curve
Siegel, Bianca; Bent, John P; Ward, Robert F
OBJECTIVE: To reflect on lessons learned placing endotracheal nitinol stents in children. STUDY DESIGN: Case series with chart review. SETTING: Tertiary care children's hospital. SUBJECTS AND METHODS: All children who underwent nitinol cervical tracheal stenting were included. Records were carefully reviewed for intraoperative and postoperative complications, management choices, outcomes, and factors that influenced results. RESULTS: Between 1999 and 2011, 7 children underwent 13 stent placements. Median follow-up was 5 years (range, 1-12 years). Six patients underwent stenting as a salvage procedure following open attempts at airway reconstruction. Four patients remain decannulated with their stent in place (median follow-up 7 years). The fifth patient had his stent removed endoscopically after 50 days because it became apparent that his obstruction was primarily laryngeal. The sixth child had his stent removed via a tracheal fissure after 14 months because of recalcitrant subglottic inflammation at the superior stent border. The seventh patient was decannulated for over 2 years but ultimately required tracheotomy replacement because of stenosis with the stent lumen. Complications included stent migration (23%), restenosis (29%), edema (29%), and granulation (57%). CONCLUSION: Endotracheal nitinol stents provide a realistic opportunity for decannulation in children for whom other options have failed but should be reserved only as a salvage procedure in severely complicated airways. Our experience has taught valuable lessons about stent indications, sizing, characteristics, and deployment, as well as means to avoid and manage their complications.
PMID: 23322626
ISSN: 0194-5998
CID: 946162