Publications by authors named "Qing-wen Zhu"

Article Synopsis
  • The study evaluated the use of copy number variation (CNV) origin analysis in non-invasive prenatal testing (NIPT) to enhance its clinical application, involving over 35,000 patients from January 2019 to March 2023.
  • Out of the pregnancies tested, 109 showed significant CNV results, with a majority being maternal/foetal CNVs; findings indicated that many of these abnormalities were small and had low penetrance.
  • The diagnostic accuracy differed significantly between prenatal diagnoses for foetal CNVs compared to maternal/foetal CNVs, highlighting the potential effectiveness of NIPT in identifying genetic abnormalities in pregnancies.
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The separation and purification of chemical raw materials, particularly neutral compounds with similar physical and chemical properties, represents an ongoing challenge. In this study, we introduce a class of water-soluble macrocycle compound, calix[2]azolium[2]benzimidazolone (H), comprising two azolium and two benzimidazolone subunits. The heterocycle subunits form a hydrophobic binding pocket that enables H1 to encapsulate a series of neutral guests in water with 1:1 or 2:1 stoichiometry, including aldehydes, ketones, and nitrile compounds.

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Primary head and neck hematolymphoid neoplasms (PHNHLN) are defined as a series of hematolymphoid system-derived neoplasms which primarily emanate in head and neck region. Due to the rarity and absence of symptomatic specificity, PHNHLN is easily neglected. The objective of this study is to investigate demographics, pathological subtype distribution, anatomical location, survival outcomes and prognostic factors of PHNHLN among older patients aged ≥ 60.

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To analyse the pathogenic genes and mutations of a family with hereditary deafness. We recruited a three-generation family with NSHL. A detailed medical history inquiry and related examinations were performed.

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Importance: Early identification and intervention for newborns with hearing loss (HL) may lead to improved physiological and social-emotional outcomes. The current newborn hearing screening is generally beneficial but improvements can be made.

Objective: To assess feasibility and evaluate utility of a modified genetic and hearing screening program for newborn infants.

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With the spread of the novel coronavirus disease 2019 (COVID-19) around the world, the estimation of the incubation period of COVID-19 has become a hot issue. Based on the doubly interval-censored data model, we assume that the incubation period follows lognormal and Gamma distribution, and estimate the parameters of the incubation period of COVID-19 by adopting the maximum likelihood estimation, expectation maximization algorithm and a newly proposed algorithm (expectation mostly conditional maximization algorithm, referred as ECIMM). The main innovation of this paper lies in two aspects: Firstly, we regard the sample data of the incubation period as the doubly interval-censored data without unnecessary data simplification to improve the accuracy and credibility of the results; secondly, our new ECIMM algorithm enjoys better convergence and universality compared with others.

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Hereditary hearing loss is one of the most common sensory disabilities worldwide. Mutation of POU domain class 4 transcription factor 3 ) is considered the pathogenic cause of autosomal dominant nonsyndromic hearing loss (ADNSHL), designated as autosomal dominant nonsyndromic deafness 15. In this study, four novel variants in , c.

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: Abnormal pro-inflammatory regulation of the immune system might contribute to the pathogenesis of hyperglycemia during pregnancy. We examined the correlations of neutrophil-lymphocyte ratio (NLR) and monocyte-lymphocyte ratio (MLR) with disease severity and assessed their predictive values. : This retrospective case-control study included 311 cases of hyperglycemia first detected during pregnancy (HFDP) [153 with gestational diabetes mellitus (GDM) and 158 with diabetes in pregnancy (DIP)] and, as a control group, 172 pregnant women with normal glucose tolerance.

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Objective: Abnormal changes in immune-mediated inflammation contribute to the pathogenesis of preeclampsia (PE). We aim to investigate the value of systemic immune inflammation indices-neutrophil-lymphocyte ratio (NLR) and monocyte-lymphocyte ratio (MLR)-to identify and evaluate the prognosis of patients with PE.

Methods: This study reviewed clinical records of 367 PE patients (162 with mild PE and 205 with severe PE), in addition to a control group of 172 normal pregnancies.

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Background: To design the pulse information which includes the parameter of pulse-position, pulse-number, pulse-shape and pulse-force acquisition and analysis system with function of dynamic recognition, and research the digitalization and visualization of some common cardiovascular mechanism of single pulse.

Methods: To use some flexible sensors to catch the radial artery pressure pulse wave and utilize the high frequency B mode ultrasound scanning technology to synchronously obtain the information of radial extension and axial movement, by the way of dynamic images, then the gathered information was analyzed and processed together with ECG. Finally, the pulse information acquisition and analysis system was established which has the features of visualization and dynamic recognition, and it was applied to serve for ten healthy adults.

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Background: Mutations in the SLC26A4 gene, which encodes the anion transporter, pendrin, are a major cause of autosomal recessive non-syndromic hearing loss (NSHL) in some Asian populations. SLC26A4 c.919-2A>G (IVS7-2A>G) is the most common mutation in East Asian deaf populations.

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Objective: To investigate the whole sequence of the SLC26A4 gene in moderate to profound sensorineural hearing loss (SNHL) patients with IVS7-2A to G mutation of the gene in China.

Methods: Whole SLC26A4 gene sequence was analyzed by direct sequencing in 80 SLC26A4 gene IVS7-2A to G mutation carriers for the occurrence of a second mutation in the gene.

Results: Forty-seven out of the 80 patients were found to have a second heterozygous mutation, whereas a single IVS7-2A to G mutation could be responsible for SNHL in the remaining 33 patients.

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Objective: To investigate the whole sequence of SLC26A4 gene among 1552 deaf students from 21 regions of China with SLC26A4 hot spot mutation IVS7-2A > G and analyze the epidemiological state of enlarged-vestibular-aqueduct-syndrome (EVAS) related hearing loss in China.

Methods: DNA was extracted from peripheral blood of 1552 students from deaf and dumb school of 21 regions in China. The nationality of the 1552 cases covers Han (1290 cases), Uigur (69 cases), Hui (37 cases), Mongolia (31 cases), Yi, Zhuang, Bai, Miao and other 13 nationalities (125 cases).

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Article Synopsis
  • The study focused on the SLC26A4 IVS7-2 A > G mutation in a large group of Chinese individuals with hearing loss to improve screening and diagnosis for enlarged vestibular aqueduct syndrome (EVAS).
  • Out of 1979 patients tested, 245 had the mutation, with variations in prevalence noted across different regions of China, particularly higher frequencies in the central area and among the Han population.
  • The findings emphasized the importance of early detection of this genetic mutation, which could lead to better diagnostic approaches tailored to different ethnic groups within the Chinese deaf community.
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Objective: To investigate the prevalence of GJB2 mutations in Uigur and Han ethnic groups in Xinjiang Uigur Autonomous Region, China and to understand the mutation spectrum and frequency of the GJB2 gene in these 2 ethnic groups.

Methods: Questionnaire survey was conducted among 61 Uigur deaf-mute students, 60 Han deaf-mute students, and 98 normal Uigurs and 301 normal Han people as controls. Peripheral blood samples were collected to undergo PCR and sequencing of GJB2 gene.

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Objective: To analyze the sequence of GJB2 gene in nonsyndromic hearing impairment (NSHI) patients in China.

Methods: Peripheral blood samples were obtained from 1190 NSHI patients randomly selected from the Deaf and Mute Schools of Beijing, Hebei, Heilongjiang, Jilin, Inner Mongolia, Shanxi, Henan, Hubei, Shaanxi, Gansu, Ningxia, Qinghai, Anhui, Jiangsu, Shanghai, Fujian, Guangdong, and Guangxi, and 301 children with normal hearing level used as controls. Genomic DNA was extracted by extraction kits to undergo polymerase chain reaction and sequencing so as to detect the mutations of GJB2 gene.

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Objective: To investigate the hot spot mutation of SLC26A4 gene and its incidence among patients with moderate to profound sensorineural hearing loss (SNHL) and to analyze the epidemiology of enlarged vestibular aqueduct syndrome in China.

Methods: Peripheral blood samples were collected from 1,552 students of deaf and dumb school in 21 cities throughout China. The nationality distribution of the 1,552 students included Han (n = 1290), Uigur (n = 69), Hui (n = 37), Mongolian (n = 31), and Southwest minorities including Yi, Zhuang, Bai, Miao and other 14 nationalities (n = 125).

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Objective: To analyze the molecular pathogenesis of deaf couples by means of genetic testing. To provide accurate genetic counseling and instruction for deaf couples with different etiology based upon results of genetic testing.

Methods: Four deaf families from July 2005 to May 2006.

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Objective: To investigate the incidence of hot spot mutation of PDS gene by genetic screening testing method in Chifeng City, Inner Mongolia. The feasibility and effectiveness of genetic screening method in finding enlarged vestibular aqueduct syndrome were confirmed by temporal bone CT scan.

Methods: DNA were extracted from peripheral blood of 141 students of Chifeng Deaf and Dumb school.

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Objective: To access the pathological changes of the functional localization of the primary auditory cortex in auditory neuropathy patients using magnetoencephalography (MEG).

Methods: The M100 waves of cortical evoked magnetic fields (AEF) evoked by 0.5, 1, 2, 4, 6, 8 kHz pure tones were measured respectively in 10 auditory neuropathy patients (20 ears) and 15 healthy young subjects (30 ears) using a whole head 306 channel magnetoencephalography (MEG) system.

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