Browsing by Author "Nelson, Rick"

Now showing 1 - 3 of 3
  • Thumbnail Image
    Item
    Audiologic Improvement Following MCF Approach for Spontaneous Cerebrospinal Fluid Leaks
    (Wolters Kluwer, 2019-09) Alwani, Mohamedkazim; Bandali, Elhaam; Van Buren, Lauren; Yates, Charles; Nelson, Rick; Otolaryngology -- Head and Neck Surgery, School of Medicine
    Objective: To determine the audiologic improvement after middle cranial fossa (MCF) approach to repair spontaneous cerebrospinal fluid (sCSF) leaks. Study Design: Retrospective cohort study. Setting: Tertiary referral center. Patients: Twenty-four consecutive patients (27 ears) with temporal bone sCSF leak over a 4-year period. Patient age, sex, ethnicity, body mass index (BMI), location of CSF leak, recurrence of CSF leak, and presence of encephalocele(s) were recorded. Intervention: Audiometric testing in patients undergoing MCF repair of temporal bone sCSF leak. Main Outcome Measures: Comparison of preoperative and postoperative pure-tone average (PTA), air-bone gap (ABG), and word recognition score (WRS) in the sCSF leak ear. Results: Out of 27 ears, 55% had multiple tegmen defects and 82% had more than or equal to 1 encephaloceles. There were no recurrent CSF leaks at a median follow up of 4 months. The mean (SD) preoperative PTA and ABG were 40.58 [15.67] and 16.44 [6.93] dB, respectively. There was significant improvement in mean PTA (10.28 [8.01] dB; p < 0.001; Cohen d = 0.95) and ABG (9.31 [7.16] dB; p < 0.001; Cohen d = 0.88) after sCSF repair. Mean WRS improved (by 3.07 [6.11] %; p = 0.024; Cohen d = 0.46) from a mean preoperative WRS of 93.16 [9.34]% to a mean postoperative WRS of 96.26 [6.49]%. Conclusions: MCF approach for repair of sCSF leaks yields significant improvement in conductive hearing loss and is highly effective in management of the entire lateral skull base where multiple bony defects are often identified.
  • Thumbnail Image
    Item
    Prevalence of Obstructive Sleep Apnea (OSA) in Spontaneous Cerebrospinal Fluid (CSF) Leaks: A Prospective Cohort Study
    (Wolters Kluwer, 2018-07) Rabbani, Cyrus; Saltagi, Mohamad; Manchanda, Shalini; Yates, Charles; Nelson, Rick; Otolaryngology -- Head and Neck Surgery, School of Medicine
    Objective: To determine the prevalence of obstructive sleep apnea (OSA) in a prospective cohort of patients with spontaneous CSF (sCSF) leaks of the temporal bone. Study Design: Prospective cohort study. Setting: Tertiary referral center. Patients: Consecutive sCSF leak patients (21) over a 3-year period. Four patients presented with a history of OSA and 17 patients were prospectively offered polysomnogram (PSG) testing during the initial clinic encounter. Intervention: Level I PSG. Main Outcome Measures: Patient characteristics (age, sex, body mass index), apnea hypopnea index (AHI), presence of snoring, and presence of hypoxia (oxygen saturation <88% for >5 min). OSA was defined as mild (AHI ≥5 and <15/h), moderate (AHI ≥15 and <30/h), and severe (AHI ≥30/h). Results: The prevalence of OSA in sCSF leak patients is 83.3%. PSG studies were performed on 18 of the 21 patients. There were 15 women and 6 men with an average age (standard deviation) of 56.3 (11.2) years and an average body mass index of 35.3 (7.7) kg/m2. Objectively, the AHI ranged from mild to severe (range = 5.7–92, median = 19.8). Snoring was present in 61% of patients and hypoxia was present in 39% of patients. sCSF leak patients with OSA were significantly older than sCSF leak patients without OSA (56.7 [8.3] versus 42.7 [14.5] yr, p = 0.03). Conclusions: OSA is highly prevalent among patients with sCSF leaks. All patients with sCSF leaks should undergo formal PSG testing. Future studies are needed to determine the role of OSA in the development of sCSF leaks.
  • Thumbnail Image
    Item
    The natural history and genotype-phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis
    (Springer, 2024) Colbert, Brett M.; Lanting, Cris; Smeal, Molly; Blanton, Susan; Dykxhoorn, Derek M.; Tang, Pei-Ciao; Getchell, Richard L.; Velde, Hedwig; Fehrmann, Mirthe; Thorpe, Ryan; Chapagain, Prem; Elkhaligy, Heidy; Kremer, Hannie; Yntema, Helger; Haer-Wigman, Lonneke; Redfield, Shelby; Sun, Tieqi; Bruijn, Saskia; Plomp, Astrid; Goderie, Thadé; van de Kamp, Jiddeke; Free, Rolien H.; Wassink-Ruiter, Jolien Klein; Widdershoven, Josine; Vanhoutte, Els; Rotteveel, Liselotte; Kriek, Marjolein; van Dooren, Marieke; Hoefsloot, Lies; de Gier, Heriette H. W.; DOOFNL Consortium; Schaefer, Amanda; Kolbe, Diana; Azaiez, Hela; Rabie, Grace; Aburayyan, Armal; Kawas, Mariana; Kanaan, Moien; Holder, Jourdan; Usami, Shin-Ichi; Chen, Zhengyi; Dai, Pu; Holt, Jeffrey; Nelson, Rick; Choi, Byung Yoon; Shearer, Eliot; Smith, Richard J. H.; Pennings, Ronald; Liu, Xue Zhong; Otolaryngology -- Head and Neck Surgery, School of Medicine
    TMPRSS3-related hearing loss presents challenges in correlating genotypic variants with clinical phenotypes due to the small sample sizes of previous studies. We conducted a cross-sectional genomics study coupled with retrospective clinical phenotype analysis on 127 individuals. These individuals were from 16 academic medical centers across 6 countries. Key findings revealed 47 unique TMPRSS3 variants with significant differences in hearing thresholds between those with missense variants versus those with loss-of-function genotypes. The hearing loss progression rate for the DFNB8 subtype was 0.3 dB/year. Post-cochlear implantation, an average word recognition score of 76% was observed. Of the 51 individuals with two missense variants, 10 had DFNB10 with profound hearing loss. These 10 all had at least one of 4 TMPRSS3 variants predicted by computational modeling to be damaging to TMPRSS3 structure and function. To our knowledge, this is the largest study of TMPRSS3 genotype-phenotype correlations. We find significant differences in hearing thresholds, hearing loss progression, and age of presentation, by TMPRSS3 genotype and protein domain affected. Most individuals with TMPRSS3 variants perform well on speech recognition tests after cochlear implant, however increased age at implant is associated with worse outcomes. These findings provide insight for genetic counseling and the on-going design of novel therapeutic approaches.