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The fasting triglyceride and low-density lipoprotein cholesterol (LDL-C) levels decreased from baseline by an average of 43% and 60%, respectively. Hepatic steatosis decreased from baseline grade 3 to post-treatment grade 1. Hepatic fibrosis did not advance following 104 weeks of treatment with rhSA and regressed in one sibling. CONCLUSION Treatment with rhSA for 104 weeks in four siblings with LAL-D demonstrated improvement in their hepatic transaminase and serum lipid levels, accompanied by reduction of hepatic steatosis and no progression of fibrosis.OBJECTIVE To provide long-term follow up of a unique patient with history of massive petrous apex congenital cholesteatoma. PATIENT 75-year-old man who presented at age 18 with left Gradenigo-like syndrome. INTERVENTION Staged left radical mastoidectomy and open transsphenoidal marsupialization. Followed with routine in-office cholesteatoma debridement. MAIN OUTCOME MEASURES Bony erosion on computed tomography (CT), monitoring for new symptoms. RESULTS Interval development of sensorineural component of hearing loss due to cochlear fistulization. Very slow skull base bony erosion continues without neck destabilization. No new or recurrent cranial neuropathies have developed. CONCLUSIONS Marsupialized cholesteatoma may be followed with routine debridement and interval imaging for monitoring over many decades.HYPOTHESIS The phenotype of DFNA11 consists of specific features at diverse developmental and age stages. BACKGROUND Only eight mutations have been identified for autosomal dominant non-syndromic hearing loss related to MYO7A (DFNA11), and the onset and progression of DFNA11 are poorly understood. METHODS After linkage analysis and following Sanger sequencing in a family suspected to have autosomal dominant hereditary hearing loss, we analyzed the audiometric and vestibular functions and their long-term changes in the subjects carrying the variant. RESULTS A reported variant of uncertain significance, NP_000251.3p.Arg853His, in MYO7A was detected and cosegregation data of this large family provided evidence that the variant was likely pathogenic for DFNA11. Family members with the variant had no other symptoms associated with hearing loss and were confirmed to have autosomal dominant non-syndromic sensorineural hearing loss. Audiograms tended to show gently sloping configuration in childhood and flat configuration after the age of 30 years. Hearing loss at high frequencies progressed slowly, while hearing at low frequencies started to deteriorate later but progressed more rapidly. Some subjects showed partly abnormal results in the distortion products of otoacoustic emissions before the elevation of hearing thresholds. Vestibular function was within the normal range in all the subjects tested. CONCLUSION We revealed that hearing loss at high frequencies was mainly noted in early developmental stages and that thresholds increased more rapidly in the low frequency range, resulting in changes in audiometric configuration. Deterioration of distortion product otoacoustic emissions (DPOAE) before the elevation of hearing thresholds was considered as a clinical feature of DFNA11.OBJECTIVE To investigate the effectiveness of basic fibroblast growth factor (bFGF) versus placebo or no intervention in the treatment of tympanic membrane (TM) perforations from randomized controlled trials (RCTs), prospective and retrospective studies. DATA SOURCES PubMed, EMBASE, and Cochrane databases were screened from their inceptions to June 2019. STUDY SELECTION Inclusion criteria 1) English language; 2) observational (retrospective or prospective) or treatment (RCT) studies; 3) reported the outcomes on the application of bFGF in adult or pediatric population. EXCLUSION CRITERIA 1) studies without a control group; 2) animal studies, in vitro studies, review studies, and case reports. DATA EXTRACTION Number of patients, cause of TM perforation, perforation size, treatment, mean age, follow-up time, sex, closure rate, healing time, mean air-bone gap improvement. DATA SYNTHESIS A total of 14 studies were included, including seven RCTs and seven non-RCTs with a total of 1,072 participants. The odds ratio for closure rate of bFGF treatment was 7.33 (95% confidence interval [CI], 4.65 to 11.53; p  less then  0.01; I = 44%) and the standardized mean difference (SMD) for healing time was -5.89 (95% CI -7.85 to -3.93, p  less then  0.01, I = 98%), suggesting bFGF application has a significant effect on closure of TM perforations. However, no significant change in hearing (SMD 0.08, 95% CI -0.11 to 0.27, p = 0.39, I = 0%) was seen as a result of bFGF treatment. CONCLUSIONS Our meta-analysis has revealed that the application of bFGF can significantly enhance the closure rate as well as shorten the healing time for TM perforations. In terms of hearing, there is as yet no evidence that bFGF has a significant effect. Given its ease, availability, and safety, bFGF can be used effectively for TM repair.OBJECTIVES The rise in the use of cochlear implants (CIs) has continued to fuel research aimed at improving surgical approaches and the preservation of residual hearing. Selleck Retatrutide Current in vivo models involve small animals not suitable for evaluating full-sized CIs nor are prohibitively expensive nonhuman primates. The objective of this study was to develop and evaluate an in vivo model of cochlear implantation in sheep. METHODS Eight adult, female sheep were implanted with full-sized CIs from three manufacturers using a retrofacial approach to the round window. Partial electrode insertions were performed to a depth of 10 to 12 mm before closure. Round window electrocochleography (ECoG) and auditory brainstem responses (ABR) were conducted during and after surgery. Following a 30-day implantation, cochleae were explanted and imaged using both x-ray microscopy and histology. RESULTS The surgery was well tolerated although limited complications were observed in three of eight sheep. Electrode insertions were up to 12 mm before insertion resistance noted. ECoG and ABR responses were reduced postimplantation, reflecting changes in cochlear mechanics due to the presence of the implant, and/or insertion trauma. Histological and radiological image analysis showed the presence of intracochlear fibrosis as well as one instance of tip fold-over. CONCLUSIONS The use of sheep presents a feasible live-animal model to study cochlear implantations. Full-sized implants as well as surgical techniques can be evaluated on functional outcomes such as ABR and ECoG as well as histological markers for residual hearing including intracochlear fibrosis. Use of this model and surgical approach has potential to evaluate CIs and surgical techniques in both the acute and chronic setting.
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