Revisiting Genetic Epidemiology with a Refined Targeted Gene Panel for Hereditary Hearing Impairment in the Taiwanese Population.

Hearing impairment is one of the most common sensory disorders in children, and targeted next-generation sequencing (NGS)-based genetic examinations can assist in its prognostication and management. In 2020, we developed a simplified 30-gene NGS panel from the original 214-gene NGS version based on Taiwanese genetic epidemiology data to increase the accessibility of NGS-based examinations. In this study, we evaluated the diagnostic performance of the 30-gene NGS panel and compared it with that of the original 214-gene NGS panel in patient subgroups with different clinical features.

Identification of nine novel variants across PAX3, SOX10, EDNRB, and MITF genes in Waardenburg syndrome with next-generation sequencing.

Background: Waardenburg syndrome (WS) is a hereditary, genetically heterogeneous disorder characterized by variable presentations of sensorineural hearing impairment and pigmentation anomalies. This study aimed to investigate the clinical features of WS in detail and determine the genetic causes of patients with clinically suspected WS.

Methods: A total of 24 patients from 21 Han-Taiwanese families were enrolled and underwent comprehensive physical and audiological examinations.

Genetic Epidemiology and Clinical Features of Hereditary Hearing Impairment in the Taiwanese Population.

Hereditary hearing impairment (HHI) is a common but heterogeneous clinical entity caused by mutations in a plethora of deafness genes. Research over the past few decades has shown that the genetic epidemiology of HHI varies significantly across populations. In this study, we used different genetic examination strategies to address the genetic causes of HHI in a large Taiwanese cohort composed of >5000 hearing-impaired families.

Gestational exposure to polychlorinated biphenyls and dibenzofurans induced asymmetric hearing loss: Yucheng children study.

Introduction: In 1979, approximately 2000 people in central Taiwan were exposed to polychlorinated biphenyls and dibenzofurans (PCBs/PCDFs) due to ingestion of contaminated rice oil. The children born to mothers exposed to PCBs/PCDFs were called Yucheng children. We conducted a follow-up study to examine the association between gestational PCBs/PCDFS exposure and auditory function in Yucheng children's early adulthood.

Comparison of intermittent intratympanic steroid injection and near-continual transtympanic steroid perfusion as salvage treatments for sudden sensorineural hearing loss.

Objectives/hypothesis: The purpose of this study was to investigate whether near-continual transtympanic steroid perfusion is more effective than intermittent intratympanic steroid injection as a salvage therapy for idiopathic sudden sensorineural hearing loss.

Study Design: Case control study.

Methods: We designed a case-control study consisting of 60 patients with sudden sensorineural hearing loss who did not respond well to systemic steroid therapy.

Intratympanic steroid injections as a salvage treatment for sudden sensorineural hearing loss: a randomized, double-blind, placebo-controlled study.

Objective: The purpose of this study was to determine, through a randomized, double-blind, placebo-controlled trial, whether intratympanic steroid injections (ITSIs) could improve hearing recovery in patients with sudden sensorineural hearing loss (SSHL) who did not respond to initial systemic steroid therapy.

Study Design: This was a prospective, randomized, double-blind, placebo-controlled study.

Setting: The study was conducted in 2 tertiary referral centers.

Using multi-stimulus auditory steady state response to predict hearing thresholds in high-risk infants.

The purpose of this study was to investigate whether multi-stimulus auditory steady-state responses were capable of estimating hearing thresholds in high-risk infants. A retrospective chart review study. Three tertiary referral centers.

Post-coital vaginal douching is risky for non-regression of low-grade squamous intraepithelial lesion of the cervix.

Background: Vaginal douching is a common practice worldwide. Its effect on the natural history of the early lesion of human papillomavirus (HPV) infection, low-grade squamous intraepithelial lesion (LSIL), is unknown.

Methods: In a prospective nation-wide cohort (n=1332), epidemiological variables including habit of vaginal douching after intercourse and outcomes of LSIL were studied.

Absence of bone morphogenetic protein-2 in human breast milk after spinal surgery.

Background Context: Bone morphogenetic protein-2 (BMP-2) has been used extensively in recent years to enhance the process of spinal fusion. However, numerous side effects have been reported. This raises concerns regarding the safety of using this material in human beings.