Screening for hearing impairment in newborns using targeted genomic sequencing: a large pilot cohort study.

Objective: Current state-run newborn hearing screening (NBHS) programs have limitations in identifying children with mild or late-onset sensorineural hearing impairment (SNHI). As more than 50% of pediatric SNHI cases are attributed to genetic causes, these limitations may be addressed by the increasing accessibility of high-throughput, low-cost genomic sequencing. This study aims to investigate the feasibility of integrating a next-generation sequencing (NGS)-based genomic screening protocol into conventional NBHS and to examine its potential benefits and challenges.

Investigating Aging-Related Endometrial Dysfunction Using Endometrial Organoids.

Ageing of the endometrium is a critical factor that affects reproductive health, yet its intricate mechanisms remain poorly explored. In this study, we performed transcriptome profiling and experimental verification of endometrium and endometrial organoids from young and advanced age females, to elucidate the underlying mechanisms and to explore novel treatment strategies for endometrial ageing. First, we found that age-associated decline in endometrial functions including fibrosis and diminished receptivity, already exists in reproductive age.

The analysis of factors affecting medication adherence in patients with myasthenia gravis: a cross-sectional study.

Background: Clinically, patients with myasthenia gravis are generally treated with drugs to improve their physical condition, and poor medication adherence can hinder their recovery. Many studies have shown the importance of medication adherence for effective treatment. Various factors may affect a patient's medication adherence; however, studies concerning medication adherence in patients with myasthenia gravis are rare.

Neonatal Filaggrin Genetic Screening and Counseling to Prevent Atopic Dermatitis in High-Risk Infants.

Mutations in filaggrin (FLG), the gene that codes for the skin barrier protein, have been shown to be associated with atopic dermatitis (AD). The objectives of this study were to determine the effects of genetic counseling and parental education on infants at a high risk of AD. We enrolled 7521 newborns in Taiwan from January 1, 2016, to March 30, 2020, and all of them received genetic testing encompassing 20 known FLG mutations.

The effects of a Journey of the Brave Counseling Program on anxiety, well-being, and life adjustment in Taiwanese children.

The purposes of the current study are two-fold. Study 1 aimed to examine the psychometric properties of the Spence Children's Anxiety Scale (SCAS) in a Taiwanese sample. Study 2 aimed to explore the immediate and follow-up effects of Journey of the Brave Counseling Program (JBCP) on children's' anxiety, well-being, and life adjustment.

An Intelligent System to Sense Textual Cues for Location Assistance in Autonomous Vehicles.

The current technological world is growing rapidly and each aspect of life is being transformed toward automation for human comfort and reliability. With autonomous vehicle technology, the communication gap between the driver and the traditional vehicle is being reduced through multiple technologies and methods. In this regard, state-of-the-art methods have proposed several approaches for advanced driver assistance systems (ADAS) to meet the requirement of a level-5 autonomous vehicle.

Clinical outcomes of fetuses with chromosome 16 short arm copy number variants.

Background: The short arm of chromosome 16 consists of several copy number variants (CNVs) that are crucial in neurodevelopmental disorders; however, incomplete penetrance and diverse phenotypes after birth aggravate the difficulty of prenatal genetic counseling.

Methods: We screened 15,051 pregnant women who underwent prenatal chromosomal microarray analysis between July 2012 and December 2017. Patients with positive array results were divided into four subgroups based on the type of mutation identified on screening (16p13.

Environmental information disclosure and public choice decisions for urban river restoration: A comparative study between Brussels (Belgium) and Guangzhou (China).

Worldwide environmental information disclosure (EID) has been widely promoted as a policy approach to establish transparent governments, enhance public environmental awareness, and foster participatory environmental governance. While information disclosure and transparency are inherently incentivised within democratic regimes, how and through what pathways an increased flow of environmental information in the absence of democracy could lead to favourable public support for environmental/ecological projects remain under-investigated. Particularly, there exists very limited literature which compares how EID is associated with public environmental choices between different sociopolitical contexts.

First report of a successful pregnancy by preimplantation genetic testing for Beckwith-Wiedemann syndrome.

Objective: Beckwith-Wiedemann syndrome (BWS) is a rare imprinting gene disorder. Maternal CDKN1C mutation comprises 5% of etiologies of BWS. There is no successful report of preventing BWS by preimplantation genetic testing for monogenic disease (PGT-M) in the literature.

The Prenatal Diagnosis and Clinical Outcomes of Fetuses With 15q11.2 Copy Number Variants: A Case Series of 36 Patients.

Prenatal genetic counseling of fetuses diagnosed with 15q11.2 copy number variants (CNVs) involving the BP1-BP2 region is difficult due to limited information and controversial opinion on prognosis. In total, we collected the data of 36 pregnant women who underwent prenatal microarray analysis from 2010 to 2017 and were assessed at National Taiwan University Hospital.

Color image encryption based on chaotic compressed sensing and two-dimensional fractional Fourier transform.

Combining the advantages of structured random measurement matrix and chaotic structure, this paper introduces a color image encryption algorithm based on a structural chaotic measurement matrix and random phase mask. The Chebyshev chaotic sequence is used in the algorithm to generate the flip permutation matrix, the sampling subset and the chaotic cyclic matrix for constructing the structure perceptual matrix and the random phase mask. The original image is compressed and encrypted simultaneously by compressed sensing, and re-encrypted by two-dimensional fractional Fourier transform.

A novel image encryption algorithm based on fractional order 5D cellular neural network and Fisher-Yates scrambling.

This paper proposes a new chaotic image encryption algorithm. Firstly, an original phased composite chaotic map is used. The comparative study shows that the map cryptographic characteristics are better than the Logistic map, and the map is used as the controller of Fisher-Yates scrambling.

MLPA and DNA index improve the molecular diagnosis of childhood B-cell acute lymphoblastic leukemia.

Aneuploidy occurs within a significant proportion of childhood B-cell acute lymphoblastic leukemia (B-ALL). Some copy number variations (CNV), associated with novel subtypes of childhood B-ALL, have prognostic significance. A total of 233 childhood B-ALL patients were enrolled into this study.

TP53 alterations in relapsed childhood acute lymphoblastic leukemia.

TP53 alterations are frequent relapse-acquired mutations in childhood acute lymphoblastic leukemia (ALL). The present study evaluated the clinical significance of relapsed childhood ALL in Taiwan. Diagnostic and/or relapsed bone marrow or peripheral blood was obtained from 111 children with relapsed ALL who were initially treated by using Taiwan Pediatric Oncology Group (TPOG) ALL protocols from January 1997 to May 2018.

Fragile X syndrome carrier screening in pregnant women in Chinese Han population.

Fragile X syndrome (FXS) is the most frequent genetic cause of intellectual disability (ID). It was previously believed that the FXS prevalence was low in Chinese population, and the cost-efficiency of FXS carrier screening was questioned. This retrospective observational study was conducted between September 2014 and May 2017 to determine the prevalence of FXS carriers in a large Chinese cohort of pregnant women.

Mosaic paternal haploidy in a patient with pancreatoblastoma and Beckwith-Wiedemann spectrum.

Pancreatoblastoma is a rare type of pancreatic cancer in children. Here, we describe a case in which Beckwith-Wiedemann syndrome (BWS) was first suspected because of placental mesenchymal dysplasia. Although the baby did not show the stigmata characteristic of BWS or abnormal peripheral blood methylation, she developed a massive pancreatoblastoma 2 months later.

Concurrent Hearing, Genetic, and Cytomegalovirus Screening in Newborns, Taiwan.

Objective: To evaluate the feasibility and potential benefits of incorporating genetic and cytomegalovirus (CMV) screenings into the current newborn hearing screening (NHS) programs.

Study Design: Newborns were recruited prospectively from a tertiary hospital and a maternity clinic between May 2016 and December 2016 and were subjected to hearing screening, CMV screening, and genetic screening for 4 common mutations in deafness genes (p.V37I and c.

Correction: Comprehensive target capture/next-generation sequencing as a second-tier diagnostic approach for congenital muscular dystrophy in Taiwan.

[This corrects the article DOI: 10.1371/journal.pone.

The sFlt-1/PlGF ratio as a predictor for poor pregnancy and neonatal outcomes.

Background: Soluble fms-like tyrosine kinase receptor-1 (sFlt-1)/placental growth factor (PlGF) ratio has been studied extensively as a predictive marker for pre-eclampsia. However, its usefulness for predicting neonatal outcomes remains unknown. This study aimed to evaluate the association of sFlt-1/PlGF ratio with pregnancy outcomes, neonatal morbidities and short-term postnatal growth patterns in pregnant women and their babies.

Comprehensive target capture/next-generation sequencing as a second-tier diagnostic approach for congenital muscular dystrophy in Taiwan.

Purpose: Congenital muscular dystrophy (CMD) is a heterogeneous disease entity. The detailed clinical manifestation and causative gene for each subgroup of CMD are quite variable. This study aims to analyze the phenotypes and genotypes of Taiwanese patients with CMD as the epidemiology of CMD varies among populations and has been scantly described in Asia.

Carbetocin in prevention of postpartum hemorrhage: Experience in a tertiary medical center of Taiwan.

Objective: The aim of this retrospective observational study was to determine the efficacy of carbetocin in reducing blood loss and primary postpartum hemorrhage (PPH) in vaginal and cesarean deliveries in a tertiary hospital in Taiwan.

Materials And Methods: Eligible gravid women (27-41 weeks) with available data were categorized into those treated prophylactically with and without carbetocin. The primary outcome was blood loss and incidence of primary PPH as measured by intrapartum/intraoperative and postpartum (recovery room) blood loss.

Prenatal diagnosis and molecular cytogenetic characterization of rec(10)dup(10p)inv(10)(p11.2q26.3) in a fetus associated with paternal pericentric inversion.

Objective: We present prenatal diagnosis and molecular cytogenetic characterization of a recombinant chromosome 10 in a fetus associated with a paternal pericentric inversion.

Case Report: A 35-year-old woman underwent amniocentesis at 18 weeks of gestation because of an advanced maternal age. Amniocentesis revealed a karyotype of 46,XY,der(10)del(10) (q26.

Epigenotype, genotype, and phenotype analysis of patients in Taiwan with Beckwith-Wiedemann syndrome.

Background: Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth disorder predisposing to tumorigenesis that results from abnormal expression or function of imprinted genes of chromosome 11p15.5.

Methods: Forty-seven patients in Taiwan with clinical suspicion of BWS were referred for diagnostic testing based on methylation profiling of H19-associated imprinting center (IC) 1 and KCNQ1OT1-associated IC2 using high-resolution melting analysis, multiplex ligation-dependent probe amplification, or high-resolution quantitative methylation profiling.

Newborn genetic screening for hearing impairment: a population-based longitudinal study.

Purpose: The feasibility of genetic screening for deafness-causing mutations in newborns has been reported in several studies. The aim of this study was to investigate the long-term results in those who screened positive for deafness mutations; these results are crucial to determine the cost-effectiveness to justify population-wide genetic screening.

Methods: We performed simultaneous hearing screening and genetic screening targeting four common deafness mutations (p.

Probable high prevalence of limb-girdle muscular dystrophy type 2D in Taiwan.

Limb-girdle muscular dystrophy type 2D (LGMD2D), an autosomal-recessive inherited LGMD, is caused by the mutations in SGCA. SGCA encodes alpha-sarcoglycan (SG) that forms a heterotetramer with other SGs in the sarcolemma, and comprises part of the dystrophin-glycoprotein complex. The frequency of LGMD2D is variable among different ethnic backgrounds, and so far only a few patients have been reported in Asia.