Gradenigo syndrome caused by nontuberculous mycobacteria.

Gradenigo syndrome is a rare but devastating complication of otitis media that involves the petrous apex. Clinically, it is characterized by the triad of suppurative otitis media, deep facial pain, and abducens palsy. Most of the Gradenigo syndrome cases that have been reported in the literature were caused by pyogenic bacteria. In this report, we describe the clinical courses of 4 adults with Gradenigo syndrome who were encountered consecutively at a tertiary referral hospital between 2008 and 2012. Mycobacterium abscessus was confirmed in all 4 cases by culturing the pathological tissues obtained during surgical debridement. To the best of our knowledge, this is the first report documenting infections of nontuberculous mycobacteria (NTM) in Gradenigo syndrome. An NTM infection must be considered in chronic otomastoiditis complicated by Gradenigo syndrome. The definite treatment of Gradenigo syndrome with an NTM infection requires adequate surgical debridement combined with antibiotic treatment for at least 4-6 months.

Continuous nursing for infants with congenital talipes equinovarus undergoing Ponseti therapy and telehealth education for their parents via WeChat: a single center retrospective study.

Aims: This study aimed to evaluate the impact of continuous nursing and telehealth education via WeChat in infants with congenital talipes equinovarus (CTEV) undergoing Ponseti therapy on reducing complications, care burden, and improving the quality of life for parents. Methods: This is a single-center retrospective study. From July 2021 to December 2022, 44 CTEV children who undergoing Ponseti treatment in our hospital who received continuous nursing and telehealth education via WeChat (experimental group). In addition, during January 2020 to June 2021, 44 children with CTEV treated with Ponseti in our hospital who received routine nursing and traditional health education were selected as the control group. The incidence of complications, parental care burden and parental quality of life were compared between the two groups. Results: There was no significant difference in the demographic characteristics of patients and parents between the two groups, and the groups were comparable (p > 0.05). The incidence of complications including plaster loosens, plaster falling off, pressure ulcer was significantly lower in the intervention group compared to the control group (p < 0.05). Parents in the intervention group experienced significantly lower care burdens compared to those in the control group (p < 0.05). The quality of life of parents in the intervention group was significantly higher than that for the control group (p < 0.05). There were significant differences in the incidence of complications, the care burden of parents and the quality of life of parents between the two groups. Conclusion: This study found that continuous nursing and telehealth education via WeChat group during Ponsetis treatment of children with CTEV can effectively reduce complications, reduce the care burden of parents and improve the quality of life of parents. This method is simple and convenient, especially worthy of application and promotion in medically underdeveloped areas.

Screening of PDSS1 as a Potential Biomarker for Hepatocellular Carcinoma Based on a Copper-Related Prognostic Signature through Bulk and Single-cell RNA-sequencing Analysis.

Background: Currently, there is few literature comprehensively analyzing landscape of cuproptosis-related genes (CRGs) in liver hepatocellular carcinoma (LIHC) with multiple omics approaches. Aims: Using comprehensive analysis, we aim to find out how CRGs works on LIHC. Method: With data from The Cancer Genome Atlas (TCGA) database, we constructed a prognostic prediction model for CGRs using LASSO regression analysis and performed immune infiltration analysis using the same dataset. To validate findings, we utilized RNA expression data from the International Cancer Genome Consortium (ICGC). Furthermore, we analyzed the enrichment and features of CRGs in epithelial cells using single-cell RNA sequencing (scRNA-seq) data. To validate the reliability of findings, we performed several experiments including RT-PCR, cloning formation assay, scratch assay, and Transwell assay. Result: We have constructed a high-precision risk scoring model composed of CRGs for predicting prognosis in TCGA-LIHC. Reliability of the risk prognosis model was confirmed through Kaplan-Meier curve analysis, time-dependent ROC analysis, and multivariate regression analysis. Furthermore, we found knocking down PDSS1 increased sensitivity of LIHC cells to copper ions, and both proliferation and migration abilities were significantly reduced. Finally, we comprehensively characterized the features of CRGs in LIHC through scRNA-seq. Conclusion: In this study, we introduce PDSS1 as a novel CRG in HCC. Utilizing scRNA-seq, we provide a comprehensive landscape of cuproptosis across various cell subtypes within the HCC tumor microenvironment. Furthermore, we detailed the characteristics of high PDSS1-expressing tumor cells, including their distinctive transcription factors, metabolic profiles, and interactions with different subtypes within the tumor microenvironment. This work not only elucidated the role of PDSS1 in HCC but also enhanced our understanding of cuproptosis dynamics during tumor progression.

Effects of eyeshades in sleep quality and pain after surgery in school-age children with supracondylar humeral fractures.

Objective: This study aimed to explore the effects of eye masks on the sleep quality and pain of children over 5 years old with humeral supracondylar fracture after surgery. Methods: Fifty children with humeral supracondylar fracture who underwent closed reduction and percutaneous pinning (CRPP) in the Pediatric orthopaedic Department of a provincial hospital in China from February 2020 to December 2021 were selected. The children were randomly divided into the experimental group (n = 25) and the control group (n = 25). Children in the control group were given routine sleep care, and the children in the experimental group were given a sleep intervention with eye masks for three nights after surgery. The Pittsburgh Sleep Quality Index was used to evaluate the sleep quality of the children. The Children's Pain Behaviour Scale was used to evaluate the pain of the children. Results: After three nights of receiving the eye mask intervention, the children in the experimental group had significantly lower sleep quality scores than those in the control group; the difference was statistically significant (p < 0.05), and the children in the experimental group had higher sleep quality. The experimental group's pain scores were significantly lower than the control group's, and the difference was statistically significant (p < 0.05), and the children in the experimental group experienced less post-operative pain. Conclusions: Eye masks are a simple, safe and economical intervention, that is beneficial for improving the sleep quality and reducing pain in children over 5 years old with humeral supracondylar fracture after closed reduction and percutaneous pinning. It can be used as a reference and basis for clinical pain relief and sleep quality after surgery for supracondylar fractures of the humerus in children.

Research trends in cholangiocarcinoma treatments during the last 3 decades.

Background: Over the past 30 years, numerous studies have focused on the treatment of cholangiocarcinoma (CCA), and these treatments have greatly evolved. Objectives: To better understand the research trends, we evaluated the most influential publications and attempted to identify their characteristics using bibliometric methods. Methods: The most influential publications were identified from the Clarivate Analytics Web of Science Core Collection database. The general characteristics of included papers were identified, and the research trends were explored via the bibliometric method. Results: The average total number of citations for of the listed publications were 312 (range from 165 to 1922). The highest number of papers were published during period II (2001-2010, n = 50), followed by period III (2011-2020, n = 28), and period I (1991-2000, n = 22). The United States and Germany have made remarkable achievements in this field. Institutionally, Mayo Clinic and Memorial Sloan-Kettering Cancer Center were the leading institutions, with Blumgart and Zhu from the United States being the most influential authors. Close collaboration was established between the leading countries, institutions, and authors. The Annals of Surgery contributed the most to the papers with the highest total number of citations. Surgery predominated during period I (n = 14, 63.6%), with a gradual decline occurring during periods II (n = 19, 41.3%, P = 0.085) and period III (n = 3, 9.4%, P = 0.002). Contrastingly, the number of publications related to systemic therapy has increased significantly since period II and peaked in period III. Conclusions: Surgery remains the most important treatment for CCA. However systemic therapy has become a research and clinical application hotspot. These findings will contribute to the translation of treatments for CCA and provide researchers with relevant research directions.

Erratum to "Research trends in cholangiocarcinoma treatments during the last 3 decades" [Heliyon 9(7) (July 2023) e17100].

[This corrects the article DOI: 10.1016/j.heliyon.2023.e17100.].

Circ-RAPGEF5 promotes intrahepatic cholangiocarcinoma progression by stabilizing SAE1 to facilitate SUMOylation.

BACKGROUND: Intrahepatic cholangiocarcinoma (ICC) is an aggressive malignancy with a poor prognosis. The underlying functions and mechanisms of circular RNA and SUMOylation in the development of ICC remain poorly understood. METHODS: Circular RNA hsa_circ_0001681 (termed Circ-RAPGEF5 hereafter) was identified by circular RNA sequencing from 19 pairs of ICC and adjacent tissue samples. The biological function of Circ-RAPGEF5 in tumor proliferation and metastasis was examined by a series of in vitro assays. A preclinical model was used to validate the therapeutic effect of targeting Circ-RAPGEF5. RNA pull-down and dual-luciferase reporter assays were used to access the RNA interactions. Western blot and Co-IP assays were used to detect SUMOylation levels. RESULTS: Circ-RAPGEF5, which is generated from exons 2 to 6 of the host gene RAPGEF5, was upregulated in ICC. In vitro and in vivo assays showed that Circ-RAPGEF5 promoted ICC tumor proliferation and metastasis, and inhibited apoptosis. Additionally, high Circ-RAPGEF5 expression was significantly correlated with a poor prognosis. Further investigation showed that SAE1, a potential target of Circ-RAPGEF5, was also associated with poor oncological outcomes. RNA pull-down and dual-luciferase reporter assays showed an interaction of miR-3185 with Circ-RAPGEF5 and SAE1. Co-IP and western blot assays showed that Circ-RAPGEF5 is capable of regulating SUMOylation. CONCLUSION: Circ-RAPGEF5 promotes ICC tumor progression and SUMOylation by acting as a sponge for miR-3185 to stabilize SAE1. Targeting Circ-RAPGEF5 or SAE1 might be a novel diagnostic and therapeutic strategy in ICC.

The causal relationship between abdominal obesity and lower bone mineral density: A two-sample mendelian randomization study.

Aims: The purpose of this study was to assess the causal effect of abdominal obesity on bone mineral density by two-sample Mendelian randomization (MR). Methods: Abdominal obesity was chosen as exposure in this study. Single nucleotide polymorphisms, extracted from Genome-wide association analysis (GWAS) data, which are closely associated with waist circumference (WC), hip circumference (HC), and waist-to-hip ratio (WHR) were used as instrumental variables to perform MR studies. Different site bone mineral density, such as total bone mineral density (TBMD) and forearm bone mineral density (FBMD) were chosen as outcomes. Inverse variance weighted (IVW) was used as the primary method to assess this causality. Results: According to the IVW method (ß = -0.177; 95% CI = -0.287, -0.067; p = 1.52 × 10-3), WC had a negative causal relationship with TBMD, besides, with one standard deviation (SD) higher in HC, there was a 0.195 SD decrease in TBMD (95% CI = -0.279, -0.110; p = 6.32 × 10-6), and with an increase of one SD in HC was related to a decrease of 0.312 SD in FBMD analyzed by the IVW. Conclusion: This study showed that abdominal obesity has a negative effect on bone mineral density.

Using machine learning techniques predicts prognosis of patients with Ewing sarcoma.

Ewing sarcoma is one of the most common types of malignant bone tumor in children and adolescents. However, to our limited knowledge, no study exists that uses machine learning to create algorithms for the prediction of survivorship for Ewing sarcoma. About 2332 patients with Ewing sarcoma between 1975 and 2016 in the United States were identified from Surveillance, Epidemiology, and End Results (SEER) program. All patients in the data set were randomly assigned into the training set and the testing set, at a 2:8 ratio. In the training set, boosted decision tree, support vector machine, nonparametric random forest method, and neural network models were developed to predict the 5-year survivorship. The overall survival rate in 5-year follow-up of this patient cohort is 60.72%. With respect to the algorithms for both cancer specific survival and overall survival, there was slight superiority in our performance metrics favoring the random forest method over the other models for survival prediction, with 77/83% sensitivity and 91/94% specificity, respectively. The random forest method was incorporated into a freely available web-based application. This application can be accessed through https://zryan.shinyapps.io/EwingSarcoma/. Clinical Significance: To the best of our knowledge, this is the first available predictive model for predicting survival in Ewing sarcoma based on machine-learning algorithms. This study may provide orthopedic surgeons with an easily accessible prediction tool when dealing with patients suffering from Ewing sarcoma.

Factors Associated With Hearing Outcomes After Stapedotomy in Taiwanese Patients With Clinical Otosclerosis.

OBJECTIVE: To examine the clinical factors associated with the effectiveness of stapedotomy in improving hearing sensitivity in Taiwanese patients with otosclerosis. METHODS: In this retrospective study, we reviewed the medical records of 31 patients (36 ears) with otosclerosis undergoing stapedotomy performed by a single surgeon. Preoperative and postoperative hearing results were analyzed to identify factors associated with hearing outcomes after stapedotomy in the Taiwanese population with clinical otosclerosis. RESULTS: Compared with preoperative pure tone averages (PTAs), stapedotomy significantly improved postoperative air conduction (AC) thresholds (P < .0001), bone conduction (BC) thresholds (P = .025), and air-bone gaps (ABGs; P < .0001). Postoperative closure of ABGs less than 10 or 20 dB was achieved in 16 (44.4%) and 33 (91.7%) of 36 surgical ears. Improvement in postoperative AC thresholds and ABGs and the size of preoperative ABGs were significantly correlated (r = .650, P < .001 and r = .745, P < .001, respectively). Gender-stratified analysis indicated a stronger correlation between improvement in postoperative AC thresholds and preoperative ABGs in male patients than in female patients (r = .893, P < .001 and r = .476, P = .014, respectively), and in postoperative and preoperative ABGs (r = .933, P < .001 and r = .626, P < .001, respectively). With the more stringent criteria for surgical success, factors including age (≤50 years), type (conductive, BC ≤25 dB), and degree (PTA ≤55 dB) of preoperative hearing loss led to more favorable outcomes. CONCLUSIONS: We reported evidence supporting a potential gender difference on hearing outcomes after stapedotomy in Taiwanese patients with otosclerosis. Age, type, and degree of preoperative hearing loss may affect the surgical success rate.

Circulating Adipokine Levels in Nonobese Women With Polycystic Ovary Syndrome and in Nonobese Control Women: A Systematic Review and Meta-Analysis.

Levels of circulating adipokines in nonobese polycystic ovary syndrome (PCOS) patients have been reported in many studies. However, the results are inconsistent. The aim of this meta-analysis is to assess whether the levels of circulating adipokines are changed in nonobese PCOS relative to nonobese healthy controls. To identify eligible studies, a literature research was performed in the PubMed, Embase, and Web of Science databases without restricting by region, journal, or language. A total of 81 studies met the eligibility criteria. The meta-analysis showed that the circulating level of adiponectin (standardized mean difference [SMD]: -0.95; 95% CI: -1.36 to -0.53) was significantly decreased in nonobese PCOS patients. In contrast, the circulating levels of chemerin (SMD: 1.13; 95% CI: 0.08 to 2.18), leptin (SMD: 0.47; 95% CI: 0.13 to 0.81), resistin (SMD: 0.45; 95% CI: 0.03 to 0.88), and visfatin (SMD: 1.38; 95% CI: 0.68 to 2.09) were significantly increased in nonobese PCOS patients. There were no significant changes in the circulating levels of apelin (SMD: 0.32; 95% CI: -1.34 to 1.99), irisin (SMD: 1.01; 95% CI: -0.68 to 2.70), omentin (SMD: -0.37; 95% CI: -1.05 to 0.31), or vaspin (SMD: 0.09; 95% CI: -0.14 to 0.32). Thus, scientific evidence suggests that the circulating adipokine levels are altered in nonobese PCOS patients compared to nonobese healthy controls. Therefore, independent of the degree of obesity, dysregulated circulating adipokine levels might play important roles in the occurrence and development of PCOS.

Hearing in noise test in subjects with conductive hearing loss.

BACKGROUND/PURPOSE: It has been reported that patients with pure conductive hearing loss (CHL) have remarked that their hearing is better in the presence of background noise. This study investigated the ability for speech discrimination under background noise in adult subjects with CHL, using the Mandarin Hearing in Noise Test (M-HINT). METHODS: Seventeen subjects with unilateral CHL and 15 with bilateral CHL participated in this study. Twenty normal-hearing subjects served as controls. During the M-HINT, the sentences and noise were presented in a soundproof chamber. Reception threshold for sentences (RTS) in quiet were obtained first, and then three more blocks, including noise from the front, right and left, were measured for each subject. RESULTS: The RTS in quiet was significantly elevated in unilateral and bilateral CHL groups. For the unilateral group, regardless of whether noise came from the front, affected side, or normal side, the signal-tonoise ratio (SNR) that was needed to reach 50% correction was significantly higher than in the control group. For the bilateral group, the SNR for noise from the front, left and right was significantly elevated compared with that in the unilateral and control groups. The noise composite score was also significantly different among these three groups (control < unilateral < bilateral). CONCLUSION: There was reduced speech discrimination ability under background noise in adult subjects with unilateral or bilateral CHL.

Chronologic changes of nitric oxide concentration in the cochlear lateral wall and its role in noise-induced permanent threshold shift.

OBJECTIVE: The objective of this study was to investigate the chronologic changes of nitric oxide (NO) concentration in the cochlear lateral wall and to explore its possible role in permanent threshold shift (PTS) after intense noise exposure. MATERIALS AND METHODS: Seventeen guinea pigs were subjected to a single continuous exposure to broadband white noise at 105 +/- 2 dB sound pressure level (SPL) for 40 hours and were divided into four groups according to various postnoise recovery periods. Another 12 guinea pigs were not exposed to noise and served as controls. The hearing status of all animals was evaluated with auditory brainstem responses (ABR) evoked by condensation "click" sounds. ABR were recorded both prior to noise exposure and immediately before killing the animal. After death, NO concentration in the cochlear lateral wall was directly measured with an NO/ozone chemiluminescence technique. RESULTS: An approximately 1.7-fold increase in NO concentration was observed immediately postnoise exposure, which persisted for up to 28 days. The threshold of ABR elevation (mean, 30 dB SPL) peaked immediately after cessation of noise exposure and gradually resolved to a PTS (mean, 14.5 dB SPL) 56 days after noise exposure when NO concentration had returned to its prenoise exposure level. CONCLUSION: Noise-induced threshold shift, which resolved to a mild PTS, can be partially attributed to NO elevation in the cochlear lateral wall. Our results revealed a nonlinear correlation between ABR recovery and depletion of NO, indicating that the mechanisms of NO changes in the cochlear lateral wall may be more complicated than previously conceived and that other pathophysiologic mechanisms may also play important roles in noise-induced PTS.

Effect of endoscopic sinus surgery on irradiation-induced rhinosinusitis in patients with nasopharyngeal carcinoma.

OBJECTIVES: We evaluated the effect of endoscopic sinus surgery on irradiation-induced rhinosinusitis of the maxillary-sinus mucosa among patients with nasopharyngeal carcinoma (NPC). DESIGN: Surgical outcomes were evaluated by changes to the ultrastructure of the antral mucosa and nasomucociliary clearance. METHODS: Twenty-one NPC patients with irradiation-induced chronic sinusitis were enrolled in the study, along with five controls. Specimens were taken from 42 maxillary sinuses during surgery and 1 year after surgery. Saccharin transit time was measured before the initial surgery and 1 year after surgery. RESULTS: In the postoperative cases, we found a decrease in the number of the submucosal gland openings (P < 0.05), the cilia in the antral mucosa regenerated (P < 0.05), and the saccharin transit time reduced (P < 0.05); the number of goblet cells did not change. CONCLUSION: Endoscopic sinus surgery is an effective treatment for irradiation-induced rhinosinusitis in NPC patients, improving ventilation and drainage of the paranasal sinuses, and facilitating regeneration of the sinus mucosa.

Effects of Meropack in the middle meatus after functional endoscopic sinus surgery in children with chronic sinusitis.

OBJECTIVES: The aim of the study was to evaluate the effects and morbidities of Meropack, an absorbable hyaluronic acid packing material, placed in the middle meatus after endoscopic sinus surgery in children with chronic sinusitis. METHODS: Sixty consecutive children with similar degrees of bilateral chronic sinusitis were enrolled in the study. Meropack was randomly inserted into one side of the middle meatus, while the opposite sinus was not packed after functional endoscopic sinus surgery. Patients were investigated 3, 8, and 12 weeks after surgery. The effects and morbidities of nasal dressings in the middle meatus were evaluated with respect to six distinct parameters: blood loss during surgery, postoperative hemorrhage, synechiae, granulation tissue, infection, and patency of the maxillary sinus ostia. RESULTS: Mean blood loss of packed and unpacked sinuses did not significantly differ (p > 0.05). Twenty-nine (15 packed, 14 unpacked) of the 120 sinuses underwent resection of the lateral wall of concha bullosa. Four of 14 unpacked sinuses had postoperative hemorrhaging, while the 15 packed sinuses did not (p < 0.05). The mean synechiae scores at the first follow-up visit for the Meropack filled and unpacked sinuses differed significantly (p < 0.05). For the 8- and 12-week follow-up visits, severity of adhesions, granulation tissue formation, infection rate, and patency of the maxillary sinus ostia did not differ significantly between the Meropack filled sinuses and the unpacked sinuses (p > 0.05 for all). CONCLUSION: Meropack dressings effectively prevented postoperative hemorrhage, but did not significantly reduced synechiae after endoscopic sinus surgery. Therefore, we recommend that Meropack packing is not necessary for routine use following pediatric functional endoscopic sinus surgery (FESS). However, it should be reserved for children who are predisposed to develop postoperative hemorrhages or adhesions, such as resection of the concha bullosa, traumatic surgery with the creation of large raw surfaces on the middle turbinate, and revision surgery with preexisting adhesions.

Mucosal healing and mucociliary transport change after endoscopic sinus surgery in children with chronic maxillary sinusitis.

OBJECTIVES: The aim of the study was to evaluate the effects of endoscopic sinus surgery for chronic maxillary sinusitis in children by investigating ultrastructure element changes in the sinus mucosa and nasal mucociliary clearance before and after operation. METHODS: Twenty-five children with chronic maxillary sinusitis scheduled to undergo functional endoscopic sinus surgery and another five controls were enrolled. A saccharin transit test was performed before and after the operation for each subject. Forty specimens of diseased maxillary sinus mucosa were classified into edematous and polypoid types, with 20 specimens in each type. The mucosal specimens were taken from the superolateral wall of each maxillary sinus during surgery and at post-operative follow-up when the mucosal recovery had begun and the symptoms had subsided. The specimens were examined with a scanning electron microscope. RESULTS: A significant increase in number of the submucosal gland openings (GO) was noted for the sinusitis group, of both edematous and polypoid types. In post-operative cases, the number of gland openings decreased, however, it remained higher than for the control group. The number of goblet cells (GC) decreased in the sinusitis cases, and significant difference was not demonstrated compared to postoperative and control groups. After endoscopic sinus surgery, the cilia in both types of antral mucosa were significantly regenerated compared to preoperative variants. Significant differences in postoperative saccharin transit time were demonstrated for both types of antral mucosa compared to the preoperative values. CONCLUSION: After endoscopic sinus surgery for chronic pediatric sinusitis, the antral mucosa recovered and mucociliary clearance improved for both types of antral mucosa, with improved ventilation and drainage demonstrated for our patients. Based on our specimens, the edematous mucosa appear to regenerate sooner than the polypoid variant, with close post-operative follow-up for more than 2 and 4 months for the edematous and polypoid types of antral mucosa, respectively, necessary to prevent sinusitis relapse.

Normalization of maxillary sinus mucosa after functional endoscopic sinus surgery in pediatric chronic sinusitis.

OBJECTIVES: To observe the recovery of maxillary sinus mucosa after endoscopic sinus surgery in children with chronic maxillary sinusitis. Functional endoscopic sinus surgery (FESS) was used to perform a middle meatal antrostomy, leaving the antral mucosa intact for later observation. METHODS: Between January 1998 and December 2003, 43 children with chronic sinusitis were enrolled in the study. Pre-operative patient profiles, including a history of symptoms, signs and allergies, were collected. Phidiatap test was used to check allergy. Saccharine transit time tests were performed for each side of the nasal cavity. Under endoscopic observation, the antral mucosa was macroscopically divided into edematous and polypoid types. RESULTS: Sixty-four (76.2%) of the 84 antrums had edematous type mucosa in which 73.4% (48/64) of cases were found to have returned to normal within 8 weeks. The polypoid antral mucosa exhibited a slower recovery with 80% (16/20) returning to normal within 4 months. The preoperative saccharine transit time significantly correlated with recovery of the antral mucosa (p < 0.05), but allergy did not (p > 0.05). CONCLUSION: The antral mucosa in children with chronic maxillary sinusitis was predominantly of the edematous type. Most recovered within 2 months of having FESS. The prolonged saccharine transit time and polypoid type antral mucosa were associated with delayed mucosal recovery, warranting follow-up of more than 4 months.

Identifying Children With Poor Cochlear Implantation Outcomes Using Massively Parallel Sequencing.

Cochlear implantation is currently the treatment of choice for children with severe to profound hearing impairment. However, the outcomes with cochlear implants (CIs) vary significantly among recipients. The purpose of the present study is to identify the genetic determinants of poor CI outcomes. Twelve children with poor CI outcomes (the "cases") and 30 "matched controls" with good CI outcomes were subjected to comprehensive genetic analyses using massively parallel sequencing, which targeted 129 known deafness genes. Audiological features, imaging findings, and auditory/speech performance with CIs were then correlated to the genetic diagnoses. We identified genetic variants which are associated with poor CI outcomes in 7 (58%) of the 12 cases; 4 cases had bi-allelic PCDH15 pathogenic mutations and 3 cases were homozygous for the DFNB59 p.G292R variant. Mutations in the WFS1, GJB3, ESRRB, LRTOMT, MYO3A, and POU3F4 genes were detected in 7 (23%) of the 30 matched controls. The allele frequencies of PCDH15 and DFNB59 variants were significantly higher in the cases than in the matched controls (both P < 0.001). In the 7 CI recipients with PCDH15 or DFNB59 variants, otoacoustic emissions were absent in both ears, and imaging findings were normal in all 7 implanted ears. PCDH15 or DFNB59 variants are associated with poor CI performance, yet children with PCDH15 or DFNB59 variants might show clinical features indistinguishable from those of other typical pediatric CI recipients. Accordingly, genetic examination is indicated in all CI candidates before operation.

Videostrobolaryngoscopy of mucus layer during vocal fold vibration in patients with laryngeal tension-fatigue syndrome.

The mucus layer on the vocal folds was examined by videostrobolaryngoscopy in patients with laryngeal tension-fatigue syndrome, a chronic functional dysphonia due to vocal abuse and misuse. Besides the findings in previous reports (such as abnormal glottal closure, phase or amplitude asymmetry, and the irregular mucosal wave), the vocal folds during vibration had an uneven mucus surface. The occurrence of an uneven mucus layer on vocal folds was significantly greater in subjects with this voice disorder (83% or 250 of 301 patients in this series) than in those without voice disorders (18.5% or 5 of 27). The increase of mucus viscosity, mucus aggregation, and the formation of rough surfaces on the vocal folds alter the mechanical properties that contribute to vibration of the cover of the vocal folds, and thereby worsen the symptoms of dysphonia in patients with laryngeal tension-fatigue syndrome.