Xiaoze Li

Clinical characteristics of newborns with the deafness-associated GJB2 variant p.V37I in Changzhi, China

Ruijie Feng, Ernest Mangantig, Wan Shahriman Yushdie Wan Yusoff, Khairil Anuar Md Isa et autres

Background: Hearing loss affects over 430 million people globally, with genetic factors accounting for at least 50% of congenital cases. The GJB2 gene mutations are the most common cause of non-syndromic hearing impairment (NSHI) worldwide, but the clinical characteristics of c.109G>A (p.V37I) …

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Screening and Prenatal Diagnosis of Spinal Muscular Atrophy in 13,500 Pregnant Women in the Changzhi Area

M J Zhang, Jing Guan, Fei Liang, Huiyi Shen et autres

Background:Spinal muscular atrophy (SMA) is a fatal autosomal recessive hereditary neuromuscular disorder. Definitive treatment remains limited, and the carrier frequency in the general population is relatively high. This study aims to determine the carrier frequency of SMA and to characterize mutation types …

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Prevalence of GJB2 gene mutations in nonsyndromic hearing impairments: A systematic review and meta-analysis

Ruijie Feng, Ernest Mangantig, Wan Shahriman Yushdie Wan Yusoff, Hui Li et autres

BACKGROUND: Nonsyndromic hearing impairment (NSHI) is the most common type of inherited hearing loss. Mutations in GJB2, which encodes connexin 26, are a major cause worldwide, but their prevalence and variant distribution vary across populations. To systematically evaluate the global prevalence of …

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Newborn screening for inherited metabolic disorders in central China: a retrospective study of 153,956 infants using non-derivatized tandem mass spectrometry

Dong Kwan Han, Yilun Tao, Jianfang Li, Lihong Wang et autres

Inherited metabolic disorders (IMDs) are genetic conditions characterized by toxic metabolite accumulation or deficiencies in essential products, often leading to severe clinical symptoms. Neonatal screening using advanced methods, such as tandem mass spectrometry (MS/MS), facilitates early detection and intervention, significantly expanding the …

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Late Cenozoic wildfire evolution in East-Central Asia: A microcharcoal record from the Junggar Basin

Gaihong Niu, Yunfa Miao, Xuelian Wang, Xiaoze Li et autres

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Effect of Imaging Range on Performance of Terahertz Coded-Aperture Imaging

Yan Teng, Haodong Yang, Xinhong Cui, Xiaoze Li et autres

This paper reveals a counterintuitive, non-monotonic dependence of terahertz coded-aperture imaging (TCAI) performance on the imaging range. This phenomenon stems from phase-induced spatiotemporal correlations in the reference-signal matrix (RSM), governed by the wavefront phase interactions between the coded-aperture elements and scatterers on …

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A retrospective analysis of 6942 amniocentesis cases

Qingsong An, Yuxiao Huang, Feifei Yu, Yilun Tao et autres

OBJECTIVE: The aim of the present study was to advance the understanding of prenatal diagnostic strategies by systematically analyzing gestational age, duration of pregnancy, clinical indications for prenatal testing, and the prevalence of chromosomal abnormalities among pregnant women undergoing amniocentesis. MATERIALS AND …

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Experimental Research on an Overmoded Ku-Band Cherenkov Oscillator Operating With a 0.5 T Permanent Magnet

Shuang Li, Dongyang Wang, Dewen Yang, Yan Teng et autres

To develop a compact and lightweight high-power microwave system operating at Ku-band, an overmoded Cherenkov oscillator is studied theoretically and experimentally. In the moderately overmoded structure, the issues of mode competition and electric field strength around the slow wave structure (SWS) surface …

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Uncovering genetic contributors to developmental delay and intellectual disability: a focus on CNVs in pediatric patients

Yilun Tao, Hongzhi Guo, Dong Han, Yang Miao et autres

Background Developmental delay (DD) and intellectual disability (ID) are prevalent in children and often have genetic causes, particularly copy number variations (CNVs). Chromosomal microarray analysis (CMA) and whole-exome sequencing (WES) are key diagnostic tools for identifying genetic contributions to these disorders. This …

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A Regional Paleoclimate Record of the Tropical Aeolian Sands during the Last Deglaciation in Hainan, China

Fengnian Wang, Baosheng Li, Dongfeng Niu, Xiaoze Li et autres

The KLD segment of the Kenweiyuan section in Wenchang, Hainan, China is a set of aeolian sand deposits of the Last Deglaciation. The chemical element and heavy mineral analysis performed in this study reveals the chemical index of alteration (CIA) in the …

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Novel GJB2 mutation c.188delT compound with c.235delC causing non-syndromic hearing loss in a Chinese family: A case report

Yilun Tao, Zhipeng Hu, Dong Kwan Han, Wenxia Song et autres

RATIONALE: Congenital sensorineural hearing loss is a significant global health issue, primarily driven by genetic factors, such as mutations in the GJB2 gene. This report presents a Chinese girl with congenital deafness and a novel mutation of the GJB2 gene. PATIENT CONCERNS: …

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Heterozygous deletion of HOXC10-HOXC9 causes lower limb abnormalities in congenital vertical talus

Liheng Chen, Shuoyang Zhao, Wenxia Song, Lihong Wang et autres

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