A novel mutation in the SLC26A4 gene in a Chinese family with non-syndromic hearing loss and enlarged vestibular aqueduct.

Objectives: To identity the genetic causes of hearing loss in a Han Chinese family with enlarged vestibular aqueduct syndrome.

Methods: Multiplex PCR technology combined with Ion Torrent™ next-generation sequencing technology was used to search for pathogenic mutations. A group of 1500 ethnically-matched normal hearing subjects screened for mutations in deafness-related genes using the same method in previously studied were included as a control.

A novel variant in the CDH23 gene is associated with non-syndromic hearing loss in a Chinese family.

Objectives: To explore the pathogenic causes of a proband who was diagnosed with non-syndromic hearing loss.

Methods: We performed targeted capture of 159 known deafness-related genes and next-generation sequencing in the proband who was tested negative for the twenty hotspot variants in four common deafness-related genes(GJB2, GJB3, SLC26A4 and MTRNR1); Clinical reassessments, including detailed audiological and ocular examinations were performed in the proband and his normal parents.

Results: We identified a novel heterozygous variant of CDH23:c.

Coinheritance of α- and β-Thalassemia with a Novel Mutation (HBB: c.268_281delAGTGAGCTGCACTG) in a Chinese Family.

We report a novel mutation (HBB: c.268_281delAGTGAGCTGCACTG) in a Chinese proband, who was also an α-thalassemia (α-thal) Southeast Asian (αα/- -) deletion carrier and displayed characteristic hematological features of β-thalassemia (β-thal) traits. The proband and carriers in her family presented hematological abnormalities.

A Novel α-Thalassemia Nonsense Mutation on the α2-Globin Gene: HBA2: c.184A>T.

We report a novel mutation on the α2-globin gene, HBA2: c.184A>T, detected in a Chinese proband. This mutation resulted in a Lys→Term substitution at position 62 of the α2-globin gene, causing a premature termination of translation.

Antimicrobial resistance in bacterial pathogens among hospitalized children with community acquired lower respiratory tract infections in Dongguan, China (2011-2016).

Background: Bacterial pathogens are a major cause of childhood community acquired lower respiratory tract infections (CA-LRTIs), and few data described the impact of antimicrobial resistance on children with CA-LRTIs. This study aims to investigate the antimicrobial resistance in common bacterial agents among hospitalized children with CA-LRTIs between 2011 and 2016 in Dongguan, China.

Methods: Sputum samples were collected from hospitalized children (0-5 years old) with CA-LRTIs in Dongguan Children's Hospital.

A novel mutation in the MYO7A gene is associated with Usher syndrome type 1 in a Chinese family.

Objectives: We aimed to investigate the genetic causes of hearing loss in a Chinese proband with autosomal recessive congenital deafness.

Methods: The targeted capture of 159 known deafness genes and next-generation sequencing were performed to study the genetic causes of hearing loss in the Chinese family. Sanger sequencing was employed to verify the variant mutations in members of this family.

Prevalence of S gene mutations within the major hydrophilic region of hepatitis B virus in patients in Dongguan, southern China.

HBsAg point mutations within the major hydrophilic region (MHR) have frequently been reported to be associated with diagnostic failure, vaccine escape and immunotherapy escape. However, the prevalence of escape mutations in chronic hepatitis B (CHB) patients has not been systematically studied in patients from southern China within the past decade. This study aimed to determine the prevalence of escape mutations within the MHR of hepatitis B virus in patients in Dongguan, southern China.

A novel missense mutation in the SLC26A4 gene causes nonsyndromic hearing loss and enlarged vestibular aqueduct.

Objectives: We aimed to investigate the genetic causes of hearing loss in a Chinese proband with nonsyndromic hearing loss and enlarged vestibular aqueduct syndrome.

Methods: We conducted clinical and genetic evaluations in a deaf proband and his normal-hearing parents. Multiplex PCR technology combined with Ion Torrent™ next-generation sequencing technology was used to detect the pathogenic mutations.

Concurrent Genetic and Standard Screening for Hearing Impairment in 9317 Southern Chinese Newborns.

Objective: The goal of this study was to investigate the use of concurrent genetic screening together with standard newborn hearing screening (NHS) in an effort to provide a scientific basis for the beneficial use of concurrent genetic hearing screening in newborns. Our aim was to improve the neonatal detection rate of hearing impairment and the potential for hearing loss, allowing for increased early intervention and potentially allowing for prevention of later onset hearing loss. This information could also be used to increase the effectiveness of genetic counseling regarding hearing impairment.

Molecular epidemiology of the enteroviruses associated with hand, foot and mouth disease/herpangina in Dongguan, China, 2015.

Enteroviruses (EVs) are the etiological agents involved in most cases of hand, foot and mouth disease (HFMD) and herpangina (HA). Information on the epidemiology profiles of EVs in China is very limited, as the present surveillance system of China focuses on CAV16 and EV71, and no published data are available in Dongguan. The aim of this study is to determine the prevalence of EVs among patients with HFMD and HA in Dongguan, China, during 2015.

Human Adenovirus Serotype 3 Vector Packaged by a Rare Serotype 14 Hexon.

Recombinant adenovirus serotype 3 (rAd3), which infects cells through the receptor desmoglein 2 (DSG2), has been investigated as a vector for gene therapy or vaccination. However, pre-existing anti-vector immunity may limit the practical application of rAd3. In this study, we investigated the seroprevalence and neutralizing antibody (NAb) titers to Ad3 and alternate serotypes in normal healthy adults in southern China.

Prevalence of neutralizing antibodies to common respiratory viruses in intravenous immunoglobulin and in healthy donors in southern China.

Background: Acute respiratory infections (ARIs) are a leading cause of death among children under the age of 5. However, there are no effective drugs for most of these severe viral infections. Passive immunotherapy with convalescent plasma or hyperimmune intravenous immunoglobulin (H-IVIG) is a potential therapeutic option for serious viral infections.

Structural Basis for Translocation of a Biofilm-supporting Exopolysaccharide across the Bacterial Outer Membrane.

The partially de-N-acetylated poly-β-1,6-N-acetyl-d-glucosamine (dPNAG) polymer serves as an intercellular biofilm adhesin that plays an essential role for the development and maintenance of integrity of biofilms of diverse bacterial species. Translocation of dPNAG across the bacterial outer membrane is mediated by a tetratricopeptide repeat-containing outer membrane protein, PgaA. To understand the molecular basis of dPNAG translocation, we determined the crystal structure of the C-terminal transmembrane domain of PgaA (residues 513-807).

Candidate single-nucleotide polymorphisms and cerebral palsy: A case-control study.

Certain genetic polymorphisms have been suggested to be associated with cerebral palsy; the candidate genes are involved in thrombophilia, inflammation and preterm labor, but the mechanism remains to be elucidated. The aim of the present study was to investigate the associations between selected single-nucleotide polymorphisms (SNPs) and cerebral palsy among children. A case-control study was conducted, including 74 infants with cerebral palsy (case group) and 99 healthy infants (control group).

Neutralizing epitopes mapping of human adenovirus type 14 hexon.

Human adenoviruses 14 (HAdV-14) caused several clusters of acute respiratory disease (ARD) outbreaks in both civilian and military settings. The identification of the neutralizing epitopes of HAdV-14 is important for the surveillance and control of infection. Since the previous studies had indicated that the adenoviruses neutralizing epitopes were likely to be exposed on the surface of the hexon, four epitope peptides, A14R1 (residues 141-157), A14R2 (residues 181-189), A14R4 (residues 252-260) and A14R7 (residues 430-442) were predicted and mapped onto the 3D structures of hexon by homology modeling approach.

Identification and Application of Neutralizing Epitopes of Human Adenovirus Type 55 Hexon Protein.

Human adenovirus type 55 (HAdV55) is a newly identified re-emergent acute respiratory disease (ARD) pathogen with a proposed recombination of hexon gene between HAdV11 and HAdV14 strains. The identification of the neutralizing epitopes is important for the surveillance and vaccine development against HAdV55 infection. In this study, four type-specific epitope peptides of HAdV55 hexon protein, A55R1 (residues 138 to 152), A55R2 (residues 179 to 187), A55R4 (residues 247 to 259) and A55R7 (residues 429 to 443), were predicted by multiple sequence alignment and homology modeling methods, and then confirmed with synthetic peptides by enzyme-linked immunosorbent assay (ELISA) and neutralization tests (NT).

Large cohort screening of G6PD deficiency and the mutational spectrum in the Dongguan District in Southern China.

Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common enzymatic disorder of the erythrocytes that affects 400 million people worldwide. We developed a PCR-reverse dot blot (RDB) assay to screen twenty genotypes of seventeen Chinese G6PD mutations and investigate the spectrum of G6PD deficiency mutations in Dongguan District, Guangdong Province, in southern China.

Method: The PCR-RDB assay consists of multiplex PCR amplification of seven fragments in the G6PD target sequence of wild-type and mutant genomic DNA samples followed by hybridization to a test strip containing allele-specific oligonucleotide probes.

A reverse dot blot assay for the expanded screening of eleven Chinese G6PD mutations.

Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a multiethnic inherited disease with a particularly high prevalence in tropical and subtropical regions including southern China. A convenient and reliable method is required to detect common G6PD mutations in the Chinese population.

Methods: We developed a reverse dot blot (RDB) assay for the expanded screening of eleven mutations (c.