Publications by authors named "Pei-Hsuan Lin"

Article Synopsis
  • The study explored the genetic variants linked to sensorineural hearing impairment (SNHI) in Mongolian patients, who show different mutation patterns compared to other populations.
  • Using next-generation sequencing on 99 patients, researchers found pathogenic variants in 54% of them, with a specific gene mutation being the most common.
  • This research not only enhances knowledge of SNHI genetics in Mongolia but also emphasizes the need for tailored genetic testing and counseling based on population differences.
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This review explored the role of mitochondria in retinal ganglion cells (RGCs), which are essential for visual processing. Mitochondrial dysfunction is a key factor in the pathogenesis of various vision-related disorders, including glaucoma, hereditary optic neuropathy, and age-related macular degeneration. This review highlighted the critical role of mitochondria in RGCs, which provide metabolic support, regulate cellular health, and respond to cellular stress while also producing reactive oxygen species (ROS) that can damage cellular components.

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Article Synopsis
  • This study investigates genetic variants linked to outer retinal tubulation (ORT) by analyzing the prevalence and clinical consequences of ORT in patients with inherited retinal diseases (IRDs).
  • A cohort of 565 IRD patients underwent SD-OCT imaging, revealing that 104 exhibited ORT, primarily associated with specific genetic variants, especially in RPE-specific and some non-RPE-specific genes.
  • The findings show a strong correlation between ORT presence and IRDs caused by RPE-specific and non-RPE-specific genes, while no cases of ORT were found in patients with photoreceptor-specific gene variants.
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Purpose: Cone-rod dystrophies (CORD) are inherited retinal dystrophies characterized by primary cone degeneration with secondary rod involvement. We report two patients from the same family with a dominant variant in the guanylate cyclase 2D () gene with different phenotypes in the electroretinogram (ERG).

Observations: A 21-year-old lady (Patient 1) was referred due to experiencing blurry vision and color vision impairment.

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Objectives: Cochlear implants are an option for children with sensorineural hearing loss who do not benefit from hearing aids. Although bilateral cochlear implantation (CI) has been shown to enhance hearing performance and quality of life, its cost-effectiveness remains unclear. This study aimed to evaluate the cost-effectiveness of bilateral CI compared with bimodal hearing for children with sensorineural hearing loss in Taiwan from both the perspectives of patients and Taiwan's National Health Insurance Administration (TNHIA).

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Background: Dysfunctional uterine peristalsis seems to play a pivotal role in hindering embryo implantation among women diagnosed with adenomyosis. This research aims to investigate whether administering an oxytocin receptor antagonist during a frozen embryo transfer (FET) cycle using a hormone replacement therapy (HRT) protocol can enhance in vitro fertilization (IVF) outcomes for infertile women affected by adenomyosis.

Methods: Between January 2018 and June 2022, our reproductive center conducted IVF-FET HRT cycles for infertile women diagnosed with adenomyosis.

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Background: Ovarian aging is characterized by the accumulation of free radicals, leading to tissue damage and affecting reproductive health. Intravascular laser irradiation of blood (ILIB, using a low-energy He-Ne laser) is known for its efficacy in treating vascular-related diseases by reducing free radicals and inflammation. However, its impact on ovarian aging remains unexplored.

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Objectives: To translate and validate the Chinese version of the Speech, Spatial, and Qualities of Hearing Scale (SSQ) for children with hearing impairment (C-SSQ-C) and for their parents (C-SSQ-P).

Design: We translated the SSQ for children into Chinese and verified its readability and comprehensibility. A total of 105 participants with moderate-to-profound hearing loss (HL) and 54 with normal hearing were enrolled in the validation process.

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Background: Recessive GJB2 variants, the most common genetic cause of hearing loss, may contribute to progressive sensorineural hearing loss (SNHL). The aim of this study is to build a realistic predictive model for GJB2-related SNHL using machine learning to enable personalized medical planning for timely intervention.

Method: Patients with SNHL with confirmed biallelic GJB2 variants in a nationwide cohort between 2005 and 2022 were included.

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Article Synopsis
  • Cuproptosis is a new type of cell death linked to various diseases, but its relationship with ovarian aging was unclear until this study identified FDX1 as a key gene involved.
  • Using bioinformatics and experiments with young and aged female mice, researchers found lower levels of FDX1 in older mice, which was also reflected in biopsies from elderly infertile patients.
  • The study suggests that FDX1 could help in understanding ovarian aging and might be targeted for drug therapy, positioning it as a potential biomarker for precision medicine in treating ovarian-related issues.
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Article Synopsis
  • - The study identifies a unique case of a 40-year-old female patient with optic atrophy and a brain aneurysm, linked to a de novo copy number variation (CNV) deletion on chromosome 3q29.
  • - Chromosomal analysis revealed that the deletion encompasses the OPA1 gene, which is known to be associated with optic nerve atrophy, but no direct relationship between the CNV and the brain aneurysm was found.
  • - The conclusion emphasizes the need for healthcare professionals to recognize the limitations of current sequencing technologies and to actively search for OPA1 deletions in patients with Autosomal Dominant Optic Atrophy (ADOA) to improve diagnostic accuracy in genetic disorders.
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First-line treatment of multiple myeloma, a prevalent blood cancer lacking a cure, using anti-CD38 daratumumab antibody and lenalidomide is often inadequate due to relapse and severe side effects. To enhance drug safety and efficacy, an antibody-drug conjugate, TE-1146, comprising six lenalidomide drug molecules site-specifically conjugated to a reconfigured daratumumab to deliver cytotoxic lenalidomide to tumor cells is developed. TE-1146 is prepared using the HighDAR platform, which employs i) a maleimide-containing "multi-arm linker" to conjugate multiple drug molecules creating a drug bundle, and ii) a designed peptide with a Zn-binding cysteine at the C-termini of a reconfigured daratumumab for site-specific drug bundle conjugation.

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Article Synopsis
  • * Fourteen patients from nine families were analyzed, revealing common symptoms like chorioretinal atrophy and specific findings on imaging tests such as color fundus images, autofluorescence, and optical coherence tomography.
  • * The research identified five different PROM1 gene variants and noted that patients often showed incomplete penetrance of these variants, suggesting that the severity of retinal lesions varied between individuals.
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Inherited retinal dystrophies (IRDs) are a group of heterogeneous diseases caused by genetic mutations that specifically affect the function of the rod, cone, or bipolar cells in the retina. Electroretinography (ERG) is a diagnostic tool that measures the electrical activity of the retina in response to light stimuli, and it can help to determine the function of these cells. A normal ERG response consists of two waves, the a-wave and the b-wave, which reflect the activity of the photoreceptor cells and the bipolar and Muller cells, respectively.

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Article Synopsis
  • * A study sequenced GJB2 and other deafness-related genes in patients with extreme variations of SNHI severity to explore this phenotypic variability, identifying additional pathogenic variants in some patients with severe-to-profound hearing loss.
  • * Notably, a specific variant (CRYL1 rs14236) was found more frequently in patients with severe-to-profound SNHI compared to those with milder forms, suggesting that both additional genetic factors
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Ferroptosis, a recently discovered form of cell death, has been implicated in various diseases. However, the genetic relationship between ferroptosis and ovarian aging has not been thoroughly investigated through informatics analysis. In this study, we conducted bioinformatics analysis using ovarian aging and ferroptosis datasets to identify potential ferroptosis-related genes using R software.

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Hearing loss is a common sensory disorder in newborns. Early intervention with assistive devices benefits children's auditory and speech performance. This study aimed to measure the health utilities of children with bilateral severe-to-profound hearing impairment with different assistive devices.

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The decline in oocyte quality with age is an irreversible process that results in low fertility. Reproductive aging causes an increase in oocyte aneuploidy leading to a decrease in embryo quality and an increase in the incidence of miscarriage and congenital defects. Here, we show that the dysfunction associated with aging is not limited to the oocyte, as oocyte granulosa cells also show a range of defects related to mitochondrial activity.

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Article Synopsis
  • * Researchers analyzed data from 38 children diagnosed with USNHL, finding genetic variants in about 21% of cases, particularly linked to specific genes like GJB2, PAX3, and EDNRB.
  • * The findings suggest that genetic testing can help identify the causes and features of USNHL, which is important for effective diagnosis and treatment in affected children.
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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.

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Article Synopsis
  • Pathogenic changes in the WFS1 gene can lead to either recessive Wolfram syndrome or dominant Wolfram-like syndrome, both associated with optic atrophy and hearing loss.
  • Scientists created induced pluripotent stem cells from the blood of a female patient with a specific WFS1 variant using the Sendai virus delivery system.
  • These stem cells displayed normal characteristics and the ability to differentiate into various cell types, making them a valuable tool for studying the causes of blindness and deafness linked to WFS1 mutations.*
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Background: GnRH agonist (GnRHa) has been reported to have direct effects and functional roles in the endometrium and embryos. Several meta-analyses have shown that GnRHa administration in the luteal phase improved the live birth rate or pregnancy rate in both fresh and frozen embryo transfer (FET) cycles. The aim of this study was to investigate whether luteal GnRHa administration could also improve in vitro fertilization (IVF) outcomes in patients undergoing hormone replacement therapy (HRT) cycles with GnRHa suppression.

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