Publications by authors named "Xiong Wang"

300 Publications

Analytical Consideration for the Maximum Spreading Factor of Liquid Droplet Impact on a Smooth Solid Surface.

Langmuir 2021 Jun 11. Epub 2021 Jun 11.

Key Laboratory of Advanced Reactor Engineering and Safety of Ministry of Education, Collaborative Innovation Center of Advanced Nuclear Energy Technology, Institute of Nuclear and New Energy Technology, Tsinghua University, Beijing 100084, China.

Based on the energy conservation approach, this study develops a universal model to predict the maximum spreading factor of liquid droplet impact on a smooth solid surface. Validated with the present simulations and experiments in the literature, this model effectively overcomes the limitation of previous models in the viscous regime and greatly reduces the computing errors from over 30% to below 6%. It is demonstrated that the underestimated maximum spreading factor by previous models results from the overestimation of viscous dissipation. By replacing the conventional model of spreading time, = 8/3, with a more precise one, = 1.47, the formulation to compute the viscous dissipation of entire spreading is improved. Finally, we examine the applicability of present model in the capillary regime and good performance is also shown.
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http://dx.doi.org/10.1021/acs.langmuir.1c01076DOI Listing
June 2021

Genomic analysis of Clostridioides difficile in two regions of the United States reveals a diversity of strains and limited transmission.

J Infect Dis 2021 Jun 9. Epub 2021 Jun 9.

Center for Community Health and Prevention, University of Rochester, Rochester, NY, USA.

Background: The distribution of Clostridioides difficile strains and transmission dynamics in the United States are not well defined. Whole genome sequencing (WGS) across two CDC Emerging Infections Program C. difficile infection (CDI) surveillance regions (Minnesota and New York) was performed to identify predominant multilocus sequence types (MLSTs) in community and healthcare-associated disease and assess transmission.

Methods: C. difficile isolates from CDI cases over three months between 2016 and 2017 underwent WGS. Cases were residents of the catchment area without a positive C. difficile test in the preceding 8 weeks. Cases were epidemiologically classified as healthcare (HCA) or community (CA) associated.

Results: Of 422 isolates, 212 (50.2%) were HCA and 203 (48.1%) were CA. Predominant MLSTs were ST42 (9.3%), ST8 (7.8%), and ST2 (8.1%). MLSTs associated with HCA-CDI included ST1 (76%), ST53 (83.3%), ST43 (80.0%), while those associated with CA-CDI included ST3 (76.9%), and ST41 (77.8%). ST1 was more frequent in NY than MN (10.8% vs 3.1%). Thirty three pairs were closely related genomically, 14 of which had potential patient-patient transmission supported by chart review.

Discussion: The genomic epidemiology of C. difficile across two regions of the US indicates the presence of a diverse strain profile and limited direct transmission.
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http://dx.doi.org/10.1093/infdis/jiab294DOI Listing
June 2021

Identification of a recurrent missense mutation in the FGA gene likely causing a congenital fibrinogen disorder.

Blood Coagul Fibrinolysis 2021 Jun 7. Epub 2021 Jun 7.

Department of Laboratory Medicine, Jiaozuo Women's and Children's Hospital Department of Laboratory Medicine, Jiaozuo Hospital of Traditional Chinese Medicine, Jiaozuo Department of Laboratory Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.

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http://dx.doi.org/10.1097/MBC.0000000000001055DOI Listing
June 2021

Toxicities and Associated Factors in Patients Receiving Temozolomide-Containing Regimens: A 12-Year Analysis of Hospital Data.

Drug Des Devel Ther 2021 20;15:2151-2159. Epub 2021 May 20.

Department of Pharmacy, Union Hospital, Tongji Medical College, Huazhong University of Science & Technology (HUST), Wuhan, People's Republic of China.

Objective: Although temozolomide has been extensively used to treat various tumors, there is a lack of large-cohort studies on temozolomide's toxicity profile. The toxicity profiles and associated factors in patients treated with temozolomide-containing regimens were analyzed.

Patients And Methods: Patients treated with temozolomide-containing regimens in the Affiliated Union Hospital of Huazhong University of Science and Technology from January 2008 to December 2019 were included. A retrospective analysis of the clinical data of patients treated with temozolomide-containing regimens was performed. Univariate chi-square test and multivariate logistic regression analysis were employed to identify factors associated with the occurrence of toxicities.

Results: Among the 1057 patients received temozolomide-containing regimens, 922 patients were included in our analyses. Of the 922 patients, 484 patients (52.5%) experienced toxicities. Univariate analysis revealed that radiotherapy, chemotherapy cycle, chemotherapy regimen, and clinical stage were significantly associated with the toxicity during temozolomide treatment ( < 0.05). The chemotherapy regimen, chemotherapy cycle, and clinical stage were significantly associated with the overall occurrence of toxicities ( < 0.05). A chemotherapy regimen, chemotherapy cycle, and clinical stage were associated with the hematological system's toxicities, whereas gender, age, clinical diagnosis, and clinical stage were related to gastrointestinal toxicities ( < 0.05). Clinical diagnosis, chemotherapy regimen, and age were associated with liver toxicity ( < 0.05).

Conclusion: Toxicities are common among patients receiving temozolomide-containing regimens. Clinicians should be aware of factors associated with toxicities to minimize the impact of the toxicity.
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http://dx.doi.org/10.2147/DDDT.S305792DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8146745PMC
May 2021

Identification of Silkworm Hemocyte Subsets and Analysis of Their Response to Baculovirus Infection Based on Single-Cell RNA Sequencing.

Front Immunol 2021 30;12:645359. Epub 2021 Apr 30.

Guangdong Provincial Key Laboratory of Agro-Animal Genomics and Molecular Breeding, College of Animal Science, South China Agricultural University, Guangzhou, China.

A wide range of hemocyte types exist in insects but a full definition of the different subclasses is not yet established. The current knowledge of the classification of silkworm hemocytes mainly comes from morphology rather than specific markers, so our understanding of the detailed classification, hemocyte lineage and functions of silkworm hemocytes is very incomplete. nucleopolyhedrovirus (BmNPV) is a representative member of the baculoviruses and a major pathogen that specifically infects silkworms () and causes serious losses in sericulture industry. Here, we performed single-cell RNA sequencing (scRNA-seq) of hemocytes in BmNPV and mock-infected larvae to comprehensively identify silkworm hemocyte subsets and determined specific molecular and cellular characteristics in each hemocyte subset before and after viral infectmadion. A total of 20 cell clusters and their potential marker genes were identified in silkworm hemocytes. All of the hemocyte clusters were infected by BmNPV at 3 days after inoculation. Interestingly, BmNPV infection can cause great changes in the distribution of hemocyte types. The cells appearing in the infection group mainly belong to prohemocytes (PR), while plasmatocytes (PL) and granulocytes (GR) are very much reduced. Furthermore, we found that BmNPV infection suppresses the RNA interference (RNAi) and immune response in the major hemocyte types. In summary, our results revealed the diversity of silkworm hemocytes and provided a rich resource of gene expression profiles for a systems-level understanding of their functions in the uninfected condition and as a response to BmNPV.
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http://dx.doi.org/10.3389/fimmu.2021.645359DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8119652PMC
April 2021

Pathogenic variants of ATG4D in infertile men with non-obstructive azoospermia identified using whole-exome sequencing.

Clin Genet 2021 May 14. Epub 2021 May 14.

Reproductive Medicine Centre, Affiliated Yantai Yuhuangding Hospital of Qingdao University, Yantai, China.

Non-obstructive azoospermia (NOA) is the most severe form of male infertility, and it is primarily associated with genetic defects. We performed whole-exome sequencing of 236 patients with NOA and identified a homozygous pathogenic variant of autophagy-related 4D cysteine peptidase (ATG4D) in two siblings from a consanguineous family and compound heterozygous pathogenic variants of ATG4D in two sporadic cases. The expression of LC3B, a regulator of autophagic activity, was significantly decreased, and the apoptosis rate of spermatogenic cells in testicular tissues was increased. Transfection of GC-2spd cells with a ATG4D mutant plasmid (Flag-Atg4d ) significantly decreased the expression level of Lc3b and increased the rate of apoptosis. Moreover, a pathogenic variant in X-linked ATG4A and compound heterozygous pathogenic variants of ATG4B were identified in one patient each. All novel variants were segregated by disease phenotype and were predicted to be pathogenic. Our findings revealed that autophagy-related cysteine peptidase family genes may play crucial roles in human spermatogenesis and identified ATG4D as a novel candidate gene for male infertility due to NOA.
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http://dx.doi.org/10.1111/cge.13995DOI Listing
May 2021

Microglial NLRP3 inflammasome activation-mediated inflammation promotes prolactinoma development.

Endocr Relat Cancer 2021 Jun 10;28(7):433-448. Epub 2021 Jun 10.

Department of Pharmacology, Key Laboratory of Chemical Biology (Ministry of Education), School of Pharmaceutical Sciences, Shandong University, Jinan, China.

Prolactinomas have harmful effects on human health, and the pathogenesis is still unknown. Furthermore, 25% of prolactinoma patients do not respond to the therapy of dopamine receptor agonist in the clinic. Thus, it is important to reveal the pathogenesis and develop new therapeutic methods for prolactinomas. Herein, two animal models of prolactinomas, namely oestrogen-treated rats and transgenic D2 dopamine receptor-deficient mice, were used. PET/CT imaging detection showed that translocator protein-mediated microglia activation and inflammation significantly increased in the pituitary glands of prolactinomas rats. Messenger RNA microarrays were used to analyze and compare the differential gene and signal pathways of the pituitary glands between control and prolactinomas rats. Statistical results pertaining to gene enrichment showed that the innate immune response genes were upregulated in the pituitary glands of prolactinoma rats. This suggested that the innate immune response was activated. We analyzed the NLRP3 (NOD-, LRR- and pyrin domain-containing protein 3) inflammasome that is one of the most important members of the innate immune system in mammals and found that the expressions of NLRP3, Caspase-1, apoptosis-associated speck-like, interleukin 1B (IL1B) and IL18 proteins of pituitary glands in prolactinomas rats were increased considerably compared with those in control rats. This suggested the activation of the NLRP3 inflammasome during the emergence and evolution of prolactinomas. Immunohistochemistry results also confirmed that the NLRP3 expression was elevated in human prolactinoma tissues, and the microglia marker-ionised calcium binding adaptor molecule-1 was co-located with the NLRP3 protein in prolactinomas by immunofluorescence assay. Finally, compared with the WT mice, NLRP3-/- mice had smaller pituitary glands (weight/body weight) and diminished prolactin (PRL) expressions and secretions. These findings were associated with a reduction in the caspase-1 activation and maturation of IL1B. Furthermore, MCC950 decreased the PRL expression and secretion following the inhibition of NLRP3 inflammasome activation in GH3 cells stimulated with lipopolysaccharide and nigericin. And MCC950 inhibited the pituitary tumor overgrowth and PRL expression and secretion in prolactinoma rats. These data confirm that the microglial NLRP3 inflammasome activation upregulates the inflammatory cytokines IL1/IL18 in the pituitary glands and induces prolactinomas. Our findings showed that microglial NLRP3 inflammasome activation-mediated IL1B-related inflammation promoted the development of prolactinomas and identified the inflammasome as a new therapeutic target for prolactinomas.
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http://dx.doi.org/10.1530/ERC-21-0137DOI Listing
June 2021

A novel nonsense mutation in ARMC5 causes primary bilateral macronodular adrenocortical hyperplasia.

BMC Med Genomics 2021 May 10;14(1):126. Epub 2021 May 10.

Branch of National Clinical Research Center for Metabolic Disease, Hubei, Department of Endocrinology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, China.

Background: Primary bilateral macronodular adrenocortical hyperplasia (PBMAH) is a rare form of adrenal Cushing's syndrome. The slowly progressing expansion of bilateral adrenal tissues usually persists for dozens of years, leading to delayed onset with severe conditions due to chronic mild hypercortisolism. About 20-50% cases were found to be caused by inactivating mutation of armadillo repeat-containing protein 5 (ARMC5) gene.

Case Presentation: A 51-year-old man was admitted for severe diabetes mellitus, resistant hypertension, centripedal obesity and edema. PBMAH was diagnosed after determination of adrenocorticotropic hormone and cortisol levels, dexamethasone suppression tests and abdominal contrast-enhanced CT scanning. The metabolic disorders of the patient remarkably improved after sequentially bilateral laparoscopic adrenalectomy combined with hormone replacement. Sanger sequencing showed germline nonsense mutation of ARMC5 c.967C>T (p.Gln323Ter). The second somatic missense mutation of ARMC5 was detected in one out of two resected nodules, reflecting the second-hit model of tumorigenesis. Routine genetic testing in his apparently healthy offspring showed one of two daughters and one son harbored the germline mutation.

Conclusions: In conclusion, our case report highlight the importance of genetic testing in the molecular diagnosis of PBMAH. Genetic screening in related family members will find out asymptomatic variant carriers to guide life-long follow-up.
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http://dx.doi.org/10.1186/s12920-021-00896-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8108324PMC
May 2021

Colonic Dopaminergic Neurons Changed Reversely With Those in the Midbrain via Gut Microbiota-Mediated Autophagy in a Chronic Parkinson's Disease Mice Model.

Front Aging Neurosci 2021 12;13:649627. Epub 2021 Apr 12.

Key Laboratory of Food Biological Safety Control, The Hong Kong Polytechnic University Shenzhen Institute, Shenzhen, China.

The role of gut-brain axis in the pathogenesis of Parkinson's disease (PD) have become a research hotspot, appropriate animal model to study gut-brain axis in PD is yet to be confirmed. Our study employed a classical PD mice model achieved by chronic MPTP (1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine) injection to study concurrent changes of dopaminergic neurons in the midbrain and the colon of mice. Our results showed such a PD model exhibited apparent locomotor deficits but not gastrointestinal dysfunction. Tyrosine hydroxylase expressions and dopamine content reduced greatly in the substantia nigra pars compacta (SNpc) or striatum, but increased in the colon of PD mice. Mechanism investigation indicated autophagy activity and apoptosis were stimulated in the SNpc, but inhibited in the colon of PD mice. Interplay of gut microbiota (GM) and autophagy in response to chronic MPTP injection led to GM dysbiosis and defective autophagy in mice colon. Meanwhile, fecal short chain fatty acids (SCFAs), acetate and propionate in particular, declined greatly in PD mice, which could be attributed to the decreased bacteria abundance of phylum , but increased abundance of phylum . GM dysbiosis derived fecal SCFAs might be one of the mediators of downregulated autophagy in the colon of PD mice. In conclusion, colonic dopaminergic neurons changed in the opposition direction with those in the midbrain via GM dysbiosis-mediated autophagy inhibition followed by suppressed apoptosis in response to chronic MPTP injection. Such a chronic PD mice model might not be an ideal model to study role of gut-brain axis in PD progression.
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http://dx.doi.org/10.3389/fnagi.2021.649627DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8071868PMC
April 2021

[Role of fecal calprotectin in the diagnosis of neonatal necrotizing enterocolitis: a Meta analysis].

Zhongguo Dang Dai Er Ke Za Zhi 2021 Apr;23(4):381-389

Department of Pediatrics, First Hospital of Hebei Medical University, Shijiazhuang 050030, China.

Objective: To study the value of fecal calprotectin (FC) in the diagnosis of neonatal necrotizing enterocolitis (NEC) through a Meta analysis.

Methods: Web of Science, Cochrane Library, PubMed, Embase, China National Knowledge Infrastructure, Weipu Periodical Database, Wanfang Data, Chinese Biomedical Literature Database were searched for related studies published up to May 2020, with manual search as supplementation. The QUADAS criteria were used to evaluate the quality of the articles included. Meta-DiSc 1.4 and Stata 15.0 software were used to perform the Meta analysis, including the evaluation of specificity, sensitivity, likelihood ratio, and diagnostic odds ratio. The sensitivity analysis and heterogeneity testing were performed, and the summary receiver operating characteristic (SROC) curve and Fagan diagram were plotted.

Results: A total of 15 articles were enrolled, involving 1 719 neonates. Among these articles, 4 had low quality, 2 had high quality, and the rest had medium quality. There was high heterogeneity between studies, and there was no threshold effect or publication bias. The random effects model analysis showed that FC had a pooled specificity of 0.80 (95%:0.78-0.82) and a sensitivity of 0.86 (95%:0.83-0.89) in the diagnosis of NEC, with a negative likelihood ratio of 0.19 (95%:0.14-0.26), a positive likelihood ratio of 4.71 (95%:3.57-6.23), and a diagnostic odds ratio of 29.56 (95%:17.98-48.61). The area under the SROC curve was 0.9131 and the index was 0.8456. The Fagan diagram showed that the post-test probability of NEC indicated by negative FC was 13%, while that indicated by positive FC was 86%. The Meta regression analysis showed that the heterogeneity came from other non-threshold factors.

Conclusions: FC has high potential and efficiency in the early diagnosis of NEC. FC measurement can be used for the diagnosis of NEC, but it should be combined with clinical manifestations and other related laboratory examinations.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8050553PMC
April 2021

The emerging role of non-coding RNAs from extracellular vesicles in Alzheimer's disease.

J Integr Neurosci 2021 Mar;20(1):239-245

Institute of Pathology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, 430030 Wuhan, P. R. China.

Alzheimer's disease is an age-dependent neurodegenerative disease. Recently, different non-coding RNAs (ncRNAs), including microRNAs, long non-coding RNAs, and circular RNAs, have been found to contribute to Alzheimer's disease's pathogenesis. Extracellular vehicles could be enriched in ncRNAs and in their role in mediating intercellular communication. Signatures of extracellular vesicular ncRNAs have shown them to be a potential biomarker in Alzheimer's disease. This perspective discusses the potential role of extracellular vehicle ncRNAs in Alzheimer's disease, providing a theoretical basis for extracellular vesicular ncRNAs in Alzheimer's disease, from pathogenesis to diagnosis and treatment.
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http://dx.doi.org/10.31083/j.jin.2021.01.360DOI Listing
March 2021

STAT3 activates the transcription of lncRNA NR2F1-AS1 to promote the progression of melanoma via regulating the miR-493-5p/GOLM1 axis.

J Gene Med 2021 Apr 6:e3338. Epub 2021 Apr 6.

Department of Dermatology, The Sixth People's Hospital affiliated to Shanghai Jiaotong University, Xuhui District, Shanghai, China.

Background: Long non-coding RNAs (lncRNAs) are vital regulators during the biological processes of melanoma. The present study aimed to uncover biological functions of lncRNA termed NR2F1 antisense RNA 1 (NR2F1-AS1) in melanoma and the potential mechanisms.

Methods: Relative levels of NR2F1-AS1 and miR-493-5p in a total of 137 paired primary melanoma tissues and corresponding non-tumor tissues, as well as three melanoma cell lines, were examined by a real-time polymerase chain reaction. The clinical significance of NR2F1-AS1 expression was analyzed statistically. The STAT3 binding motif in the promoter region of NR2F1-AS1 was identified by JASPAR (http://jaspar.genereg.net). The association between STAT3 and NR2F1-AS1 was determined by dual-luciferase reporter and chromatin immunoprecipitation assays. The effects of NR2F1-AS1 on cell proliferation, migration and were measured by cell counting kit-8 (CCK-8), Edu, transwell and wound healing assays. Dual-luciferase reporter and RNA pull-down assays were applied to validate the interaction among NR2F1-AS1, miR-493-5p and GOLM1. Furthermore, in vivo experiments were conducted to demonstrate the oncogenic role of NR2F1-AS1 in melanoma.

Results: Up-regulated NR2F1-AS1 and down-regulated miR-493-5p were detected in melanoma tumors and cells. The overexpression of NR2F1-AS1 was induced by STAT3. High NR2F1-AS1 expression was correlated to advanced tumor stage and poor prognosis of melanoma. Functional studies using CCK-8, Edu, transwell and wound healing assays revealed that the proliferative, migratory and invasive capacities of melanoma cells were attenuated by the by inhibition of NR2F1-AS1. Moreover, NR2F1-AS1 was able to up-regulate GOLM1 through recognizing and binding miR-493-5p. Furthermore, knockdown of miR-493-5p distinctly reversed these inhibitory effects of NR2F1-AS1 down-regulation on the tumorigenesis and progression of melanoma.

Conclusions: Our findings demonstrate a key role for NR2F1-AS1 in melanoma progression via targeting miR-493-5p/GOLM1 axis.
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http://dx.doi.org/10.1002/jgm.3338DOI Listing
April 2021

Harnessing Big Data to Optimize an Algorithm for Rapid Diagnosis of Pulmonary Tuberculosis in a Real-World Setting.

Front Cell Infect Microbiol 2021 18;11:650163. Epub 2021 Mar 18.

Department of Pediatrics, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, BC, Canada.

Background: The prompt diagnosis of pulmonary tuberculosis (PTB) remains a challenge in clinical practice. The present study aimed to optimize an algorithm for rapid diagnosis of PTB in a real-world setting.

Methods: 28,171 adult inpatients suspected of having PTB in China were retrospectively analyzed. Bronchoalveolar lavage fluid (BALF) and/or sputum were used for acid-fast bacilli (AFB) smear, Xpert MTB/RIF (Xpert), and culture. A positive mycobacterial culture was used as the reference standard. Peripheral blood mononuclear cells (PBMC) were used for T-SPOT.. We analyzed specimen types' effect on these assays' performance, determined the number of smears for diagnosing PTB, and evaluated the ability of these assays performed alone, or in combination, to diagnose PTB and nontuberculous mycobacteria (NTM) infections.

Results: Sputum and BALF showed moderate to substantial consistency when they were used for AFB smear or Xpert, with a higher positive detection rate by BALF. 3-4 smears had a higher sensitivity than 1-2 smears. Moreover, simultaneous combination of AFB and Xpert correctly identified 44/51 of AFB/Xpert and 6/7 of AFB/Xpert cases as PTB and NTM, respectively. Lastly, when combined with AFB/Xpert sequentially, T-SPOT showed limited roles in patients that were either AFB or Xpert. However, T-SPOT (manufacturer-defined cut-off) showed a high negative predicative value (99.1%) and suboptimal sensitivity (74.4%), and TBAg/PHA (ratio of -specific antigens to phytohaemagglutinin spot-forming cells, which is a modified method calculating T-SPOT. assay results) ≥0.3 demonstrated a high specificity (95.7%) and a relatively low sensitivity (16.3%) in AFB/Xpert patients.

Conclusions: Concurrently performing AFB smear (at least 3 smears) and Xpert on sputum and/or BALF could aid in rapid diagnosis of PTB and NTM infections in a real-world high-burden setting. If available, BALF is preferred for both AFB smear and Xpert. Expanding this algorithm, PBMC T-SPOT and TBAg/PHA ratios have a supplementary role for PTB diagnosis in AFB/Xpert patients (moderately ruling out PTB and ruling in PTB, respectively). Our findings may also inform policy makers' decisions regarding prevention and control of TB in a high burden setting.
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http://dx.doi.org/10.3389/fcimb.2021.650163DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8012509PMC
March 2021

Sustainable Route for Synthesizing Aluminosilicate EU-1 Zeolite.

Molecules 2021 Mar 8;26(5). Epub 2021 Mar 8.

College of Biological, Chemical Science and Engineering, Jiaxing University, Jiaxing 314001, China.

Developing sustainable routes for the synthesis of zeolites is still a vital and challenging task in zeolite scientific community. One of the typical examples is sustainable synthesis of aluminosilicate EU-1 zeolite, which is not very efficient and environmental-unfriendly under hydrothermal condition due to the use of a large amount of water as solvent. Herein, we report a sustainable synthesis route for aluminosilicate EU-1 zeolite without the use of solvent for the first time. The physicochemical properties of the obtained EU-1 zeolite are characterized by powder X-ray diffraction (XRD), scanning electron microscopy (SEM), thermogravimetry-differential thermal analysis (TG-DTA), N sorption, inductively coupled plasma (ICP) analysis, and solid nuclear magnetic resonance (NMR), which show the product has high crystallinity, uniform morphology, large BET surface area, and four-coordinated aluminum species. Moreover, the impact of synthesis conditions is investigated in detail. The sustainable synthesis of aluminosilicate EU-1 zeolite under solvent-free.
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http://dx.doi.org/10.3390/molecules26051462DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7962662PMC
March 2021

Single-layered meta-reflectarray for polarization retention and spin-encrypted phase-encoding.

Opt Express 2021 Feb;29(3):3230-3242

Broadband communication with high data rates is a dire need for state-of-the-art wireless technologies. For achieving efficient wireless communication (particularly in an indoor environment), the electromagnetic (EM) waves should maintain their state of polarization despite encountering multiple reflections. Metasurfaces provide a unique platform to design subwavelength-featured meta-reflectarrays which enable the desired retention of the polarization state of an EM wave upon reflection. We present a single-layered broadband meta-reflectarray, simultaneously breaking n-fold (n > 2) rotational and mirror symmetry, which exhibits an unprecedented control over the phase, amplitude, and polarization of a reflected EM wave. This unique control enables the retention of polarization state and recording of spin-encrypted information for the reflected EM waves. Such novel multifunctional meta-reflectarray can be crucial to building an indoor setup for high data rate wireless communications. Meanwhile, the meta-array's ability to encode phase information provides an extra degree of freedom to structure and control (via incident spin) the reflected EM beam in the desired way. For the proof of concept, we have experimentally demonstrated a spin-encrypted holographic display which reconstructs the recorded holographic image at an image plane for the left circularly polarized (LCP) illumination and exhibits circular dichroism for the right circularly polarized (RCP) incident waves. The proposed meta-array can find applications in 5G indoor wireless communication, chiral sensing, spin-selective imaging, holography, and encryption.
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http://dx.doi.org/10.1364/OE.415562DOI Listing
February 2021

TM-polarized angle-dispersive metasurface for axisymmetric extension of beam steering angles.

Opt Express 2021 Feb;29(3):3211-3220

Axisymmetric extension of beam steering angles by metasurfaces is of great interest due to its potential application in extending the angular scan range of existing phased arrays. This angle-multiplexed manipulation functionality requires anti-symmetrically angle-dispersive phase gradient, as well as anti-symmetric angular phase dispersion over continuous incident angles, which is difficult to be implemented by existing metasurfaces. In this work, a series of meta-atoms with asymmetric structures are developed to achieve the required phase response. Based on the asymmetric meta-atoms, an angle-dispersive metasurface for axisymmetric beam steering of transmitted transverse-magnetic (TM) wave is designed, fabricated and tested, whose simulation and experimental results demonstrate the axisymmetric extension capability of beam steering angles from -53° ≤ θi ≤ 53° to almost -90° ≤ θt ≤ 90°.
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http://dx.doi.org/10.1364/OE.415173DOI Listing
February 2021

Apolipoprotein E genotype predicts subarachnoid extension in spontaneous intracerebral haemorrhage.

Eur J Neurol 2021 Jun 4;28(6):1992-1999. Epub 2021 Apr 4.

Department of Neurology, Tongji Hospital of Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.

Background And Purpose: Spontaneous intracerebral haemorrhage (ICH) with subarachnoid extension (SAHE) predicts poor outcomes and haematoma expansion in spontaneous ICH and is also a potential predictor of the severity of vascular amyloid deposition. The biological underpinnings of SAHE remain elusive. A study was conducted to identify risk factors associated with SAHE.

Methods: A retrospective analysis was performed of an ongoing prospective cohort of primary spontaneous supratentorial ICH patients admitted to Tongji Hospital. SAHE was rated on baseline noncontrast computed tomography images by investigators blinded to the clinical data.

Results: A total of 189 patients were enrolled. Apolipoprotein E (APOE) ε2 copies (p = 0.020), but not APOE ε4 copies (p > 0.2), were more common in patients with SAHE in univariate analysis. After controlling for confounding factors in multiple logistic regression, lobar haematoma (odds ratio [OR] 14.21, 95% confidence interval [CI] 5.89-34.33; p < 0.001), large haematoma volume (OR 1.04, 95% CI 1.02-1.06; p < 0.001) and APOE ε2 copies (OR 3.07, 95% CI 1.05-8.97; p = 0.041) were three independent predictors of SAHE. For subgroup analysis stratified by location, APOE ε2 showed a possible association with SAHE in lobar ICH (p = 0.026) but not in deep ICH (p > 0.2). No significant association was found between APOE ε4 copies and either lobar (p > 0.2) or deep ICH (p > 0.2).

Conclusions: The APOE ε2 allele predicts SAHE in spontaneous supratentorial ICH. The association may predominantly apply to lobar ICH. Given the established relationship between the APOE ε2 allele and pathological cerebrovascular changes, our findings suggest that SAHE involves genetically driven vessel pathology.
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http://dx.doi.org/10.1111/ene.14830DOI Listing
June 2021

Total barley maiya alkaloids inhibit prolactin secretion by acting on dopamine D2 receptor and protein kinase A targets.

J Ethnopharmacol 2021 Jun 10;273:113994. Epub 2021 Mar 10.

Department of Pharmacy, Wuhan University Tongren Hospital (The Third Hospital of Wuhan), Wuhan, 430060, China. Electronic address:

Ethnopharmacological Relevance: Barley maiya from gramineous plants (Hordeum vulgare L.) is obtained from ripe fruits through germination and drying. It is often used to treat diseases associated with high prolactin levels.

Objective: To investigate the anti-hyperprolactinemia (anti-HPRL) mechanisms of total barley maiya alkaloids (TBMA) and hordenine.

Methods: This experiment included 9 groups: Normal group, TBMA group, hordenine group, TBMA + haloperidol group, TBMA + forskolin group, TBMA + 8-bromo-cAMP group, hordenine + haloperidol group, hordenine + forskolin group, and hordenine + 8-bromo-cAMP group. The prolactin (PRL) concentration in the supernatant and the total cAMP concentration in the cells were detected by ELISA. The expression levels of PRL, dopamine D2 receptor (DRD2) and cAMP/PKA/CREB protein were measured by Western Blot.

Results: In the TBMA group and the hordenine group, the PRL level in MMQ cells was significantly decreased, but in GH3 cells there was no change. DRD2 expression level was markedly increased, cAMP concentration was decreased, and the activity of PKA and CREB declined in MMQ cells. Compared with the TBMA group, there was a significant decrease of DRD2 expression level, a remarkable increase of PRL secretion and an increase of cAMP/PKA/CREB expression in MMQ cells within the TBMA + haloperidol group. Compared with the forskolin group, there was no significant change in PRL secretion and cAMP/PKA/CREB expression level in MMQ cells within the TBMA + forskolin group. There was a decrease in PRL secretion and cAMP/PKA/CREB expression level in MMQ cells within the TBMA + 8-bromo-cAMP group compared with the 8-bromo-cAMP group. Compared with the hordenine group, DRD2 expression level was significantly decreased, PRL secretion was markedly increased, and cAMP/PKA/CREB expression level was increased in MMQ cells within the hordenine + haloperidol group. There was no significant change in PRL secretion and cAMP/PKA/CREB expression level in MMQ cells within the hordenine + forskolin group compared with the forskolin group and within the hordenine + 8-bromo-cAMP group compared with the 8-bromo-cAMP group.

Conclusion: TBMA and hordenine can both play an anti-HPRL role via DRD2, and TBMA can also act on PKA targets to exert its anti-HPRL effect. TBMA and hordenine may be potential treatment strategies for HPRL.
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http://dx.doi.org/10.1016/j.jep.2021.113994DOI Listing
June 2021

First Identified Cases of SARS-CoV-2 Variant P.1 in the United States - Minnesota, January 2021.

MMWR Morb Mortal Wkly Rep 2021 Mar 12;70(10):346-347. Epub 2021 Mar 12.

Since December 2020, the Minnesota Department of Health (MDH) Public Health Laboratory has been receiving 100 specimens per week (50 from each of two clinical partners) with low cycle threshold (Ct) values for routine surveillance for SARS-CoV-2, the virus that causes COVID-19. On January 25, 2021, MDH identified the SARS-CoV-2 variant P.1 in one specimen through this surveillance system using whole genome sequencing, representing the first identified case of this variant in the United States. The P.1 variant was first identified in travelers from Brazil during routine airport screening in Tokyo, Japan, in early January 2021 (1). This variant has been associated with increased transmissibility (2), and there are concerns that mutations in the spike protein receptor-binding domain might disrupt both vaccine-induced and natural immunity (3,4). As of February 28, 2021, a total of 10 P.1 cases had been identified in the United States, including the two cases described in this report, followed by one case each in Alaska, Florida, Maryland, and Oklahoma (5).
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http://dx.doi.org/10.15585/mmwr.mm7010e1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7951823PMC
March 2021

Risk Factors for Mortality of COVID-19 Patient Based on Clinical Course: A Single Center Retrospective Case-Control Study.

Front Immunol 2021 16;12:581469. Epub 2021 Feb 16.

Department of Immunology, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.

Epidemiological factors, clinical characteristics, and risk factors for the mortality of COVID-19 patients have been studied, but the role of complementary systems, possible inflammatory and immune response mechanisms, and detailed clinical courses are uncertain and require further study. In this single center, retrospective case-control study, we included all COVID-19 inpatients transferred or admitted to Wuhan Tongji Hospital from January 3 to March 30 2020 who had definite clinical outcomes (cured or deceased) with complete laboratory and radiological results. Clinical data were extracted from the electronic medical records, and compared between the cured and deceased patients. ROC curves were used to evaluate the prognostic value of the clinical parameters, and multivariable logistic regression analysis was performed to explore the risk factors for mortality. The correlation between the variables was evaluated by Spearman correlation analysis. 208 patients were included in this study, 182 patients were cured and discharged, 26 patients died from COVID-2019. Most patients had comorbidities, with hypertension as the most common chronic disease (80; 38%). The most common symptoms at onset were fever (149; 72%), cough (137; 66%), and dyspnea (113; 54%). Elevated leucocytes, neutrophils, inflammatory biomarkers (CRP, ferritin, IL6, IL8, procalcitonin), PT, D-dimer, myocardial enzymes, BUN, decreased lymphocyte and subsets (T cells, CD4 T cells, CD8 T cells, NK cells, T cells + B cells + NK cells), and immunological factors (C3, C4) indicated poor outcome. PT, C3, and T cells were confirmed as independent prognostic factors for mortality by logistic regression models. IL6 and CPR were positively correlated with neutrophils, but negatively with lymphocytes and lymphocyte subsets except B cells. IL8 and ferritin were negatively related to T cells and CD4 T cells. Positive associations existed between C3 and T cells, CD4 T cells, and CD8 T cells, whereas there was no significant correlation between C4 and lymphocyte subsets. PT was found positively correlated with IL6, IL8, and CRP. Reverse correlations were explored between C3, C4, and PT, CK-MB, total bilirubin. T cells, C3, and PT were identified as independent prognostic factors for mortality. Decreased C3 and C4, dysregulation of lymphocyte subsets and cytokines may lead to death after SARS-CoV-2 infection.
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http://dx.doi.org/10.3389/fimmu.2021.581469DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7920984PMC
March 2021

A Preclinical System Prototype for Focused Microwave Breast Hyperthermia Guided by Compressive Thermoacoustic Tomography.

IEEE Trans Biomed Eng 2021 Jul 17;68(7):2289-2300. Epub 2021 Jun 17.

Objective: As a newly developed technique, focused microwave breast hyperthermia (FMBH) can provide accurate and cost-effective treatment of breast tumors with low side effect. A clinically feasible FMBH system requires a guidance technique to monitor the microwave power distribution in the breast. Compressive thermoacoustic tomography (CTT) is a suitable guidance approach for FMBH, which is more cost-effective than MRI. However, no experimental validation based on a realized FMBH-CTT system has been reported, which greatly hinders the further advancement of this novel approach.

Methods: We developed a preclinical system prototype for the FMBH-CTT technique, containing a microwave phased antenna array, a microwave source, an ultrasound transducer array and associated data acquisition module.

Results: Experimental results employing homogeneous and inhomogeneous breast-mimicking phantoms demonstrate that the CTT technique can offer reliable guidance for the entire process of the FMBH. In addition, small phase noises do not deteriorate the overall performance of the system prototype.

Conclusion: The realized preclinical FMBH-CTT system prototype is capable for noninvasive, accurate and low-side-effect breast tumor treatment with effective guidance.

Significance: The experimentally validated FMBH-CTT system prototype provides a feasible paradigm for CTT guided FMBH, establishes a practical platform for future improvement of this technique, and paves the way for potential clinical translation.
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http://dx.doi.org/10.1109/TBME.2021.3059869DOI Listing
July 2021

Regulatory Effects of Circular RNAs on Host Genes in Human Cancer.

Front Oncol 2020 11;10:586163. Epub 2021 Feb 11.

Department of Laboratory Medicine, Tongji Hospital, Tongji Medical College of Huazhong University of Science and Technology, Wuhan, China.

Circular RNAs (circRNAs) are a class of single-stranded, covalent closed-loop RNAs with tissue-/development-specific expression patterns. circRNAs are stable and play oncogenic or tumor suppressive roles in various aspects of cancer, including tumorigenesis, proliferation, apoptosis, metastasis, invasion, chemo-therapeutic resistance, and prognosis. circRNAs act as miRNA/protein sponges, protein scaffold, or template for translation. Increasing evidence shows circRNAs contribute to cancer progression modulating the expression or function of their host genes. In this review, we summarize the latest progress in the regulation of host genes by circRNAs in human cancer. The works on circRNAs mediated regulation of host genes enhance us to understand the interaction between circRNAs and their host genes in human cancer.
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http://dx.doi.org/10.3389/fonc.2020.586163DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7905086PMC
February 2021

First Identified Cases of SARS-CoV-2 Variant B.1.1.7 in Minnesota - December 2020-January 2021.

MMWR Morb Mortal Wkly Rep 2021 Feb 26;70(8):278-279. Epub 2021 Feb 26.

On January 9, 2021, the Minnesota Department of Health (MDH) announced the identification of the SARS-CoV-2 variant of concern (VOC) B.1.1.7, also referred to as 20I/501Y.V1 and VOC 202012/01, in specimens from five persons; on January 25, MDH announced the identification of this variant in specimens from three additional persons. The B.1.1.7 variant, which is reported to be more transmissible than certain other SARS-CoV-2 lineages* (1), was first reported in the United Kingdom in December 2020 (1). As of February 14, 2021, a total of 1,173 COVID-19 cases of the B.1.1.7 variant had been identified in 39 U.S. states and the District of Columbia (2). Modeling data suggest that B.1.1.7 could become the predominant variant in the United States in March 2021 (3).
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http://dx.doi.org/10.15585/mmwr.mm7008e1DOI Listing
February 2021

TWIN BROTHERS WITH VARIABLE PHENOTYPES OF HAEMOPHILIA A RESULTING FROM MATERNAL MOSAICISM OF ARG550CYS OF F8.

J Paediatr Child Health 2021 02;57(2):307-309

Department of Paediatric Haematology and Oncology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.

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http://dx.doi.org/10.1111/jpc.15282DOI Listing
February 2021

Impacts of Agricultural Capitalization on Regional Paddy Field Change: A Production-Factor Substitution Perspective.

Int J Environ Res Public Health 2021 02 10;18(4). Epub 2021 Feb 10.

Research Center for Spatial Planning and Human-Environment System Simulation, School of Geography and Information Engineering, China University of Geosciences, Wuhan 430074, China.

Paddy fields are significant in ensuring food security and improving the agricultural ecological environment. In economic terms, paddy field use is affected by input costs and crop market price. There is insufficient understanding of factor input costs caused by agricultural production-factor substitution, driving paddy field change. This study uses a panel regression model to analyze the influence of agricultural production-factor substitution on paddy field use from 1990 to 2016. The case area is Hubei province, China. The results show that the overall growth trend in paddy fields is unequivocal in China's grain production areas. The improvement in agricultural production conditions, including irrigation and land quality, has a positive effect on the area proportion of paddy fields. With socioeconomic developments, the relationship between the substitution of nitrogen fertilizer for farmland and the area proportion of paddy field is inverted-U shaped, while the effect of the substitution of machinery for labor is U-shaped. The main conclusion is that the process of agricultural production-factor substitution, intended to maximize labor and land productivity, will increase the area proportion of paddy field. Public policies should focus on improving the level of agricultural mechanization and crop diversity to protect food security and sustainable agricultural intensification.
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http://dx.doi.org/10.3390/ijerph18041729DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7916762PMC
February 2021

Heat Shock Protein 75 (TRAP1) facilitate the proliferation of the Bombyx mori nucleopolyhedrovirus.

Int J Biol Macromol 2021 Apr 5;175:372-378. Epub 2021 Feb 5.

College of Animal Science, Guangdong Provincial Key Laboratory of Agro-animal Genomics and Molecular Breeding, South China Agricultural University, Guangzhou, China. Electronic address:

The viruses utilize multiple cellular proteins to facilitate their proliferation. The Heat Shock Protein (HSP), the highly conserved protein in eukaryotes and prokaryotes, plays a critical role in facilitating viral proliferation. However, less is known about the role of the HSPs in the life cycles of the Baculoviruses. We constructed recombinant Bombyx mori nucleopolyhedrovirus and discovered the Heat Shock Protein 75 (TRAP1) in the B. mori ovary (BmN) cells by the co-immunoprecipitation experiment using the GP64 (glycoprotein 64) as the bait protein. Tissue expression profile analysis of B. mori indicated that the TRAP1 gene has higher expression levels in the ovary, midgut, and hemolymph. Down-regulation of TRAP1 via RNA interference (RNAi) and geldanamycin (GA, a TRAP1 inhibitor) treatment can reduce the expression level of the major capsid protein VP39 (viral protein 39) of BmNPV. In contrast, the up-regulation of TRAP1 via overexpression can increase the expression level of the VP39. These results indicated that the TRAP1 of B. mori could facilitate the proliferation of the BmNPV. This study provided new insights into the function of TRAP1, and the basic mechanisms of the baculoviruses life cycle for disease prevention.
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http://dx.doi.org/10.1016/j.ijbiomac.2021.01.213DOI Listing
April 2021

Circular RNAs in Human Cancer.

Front Oncol 2020 18;10:577118. Epub 2021 Jan 18.

Department of Laboratory Medicine, Tongji Hospital, Tongji Medical College of Huazhong University of Science and Technology, Wuhan, China.

Circular RNAs (circRNAs) are a class of endogenous single-stranded covalently closed RNAs, primarily produced from pre-mRNAs non-canonical back-splicing. circRNAs are highly conserved, stable, and expressed in tissue- and development-specific pattern. circRNAs play essential roles in physiological process as well as cancer biology. By the advances of deep sequencing and bioinformatics, the number of circRNAs have increased explosively. circRNAs function as miRNA/protein sponge, protein scaffold, protein recruitment, enhancer of protein function, as well as templates for translation involved in the regulation of transcription/splicing, translation, protein degradation, and pri-miRNA processing in human cancers and contributed to the pathogenesis of cancer. Numerous circRNAs may function in diverse manners. In this review, we survey the current understanding of circRNA functions in human cancer including miRNA sponge, circRNA-protein interaction, and circRNA-encoded protein, and summarize available databases for circRNA annotation and functional prediction.
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http://dx.doi.org/10.3389/fonc.2020.577118DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7848167PMC
January 2021

C-Reactive Protein +1444C/T Polymorphism Is Associated with the Susceptibility to Pulmonary Tuberculosis.

Biomed Res Int 2020 19;2020:6634879. Epub 2020 Dec 19.

Department of Laboratory Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science, Wuhan 430030, China.

Objective: The T allele of C-reactive protein (CRP) +1444C/T (rs1130864) polymorphism was associated with increased risk for some inflammatory conditions. The objective of the study was to explore the association between the CRP +1444C/T polymorphism with the susceptibility to pulmonary tuberculosis (PTB) in a Chinese population.

Methods: This case-control study enrolled 480 PTB patients and 480 healthy controls. The CRP +1444C/T polymorphism was determined using Sanger sequencing. The odds ratio (OR) and 95% confidence interval (CI) were assessed to examine the strength of genetic correlation.

Results: The genotype and allele frequencies of PTB patients differed from controls (CT vs. CC, OR = 1.924, 95% CI: 1.099-3.371, adjusted  value = 0.022; T vs. C, OR = 1.884, 95% CI: 1.085-3.273, adjusted  value = 0.024). Stratified analysis by sex found that PTB patients' genotype and allele frequencies differed from controls in the male subgroup but not the female subgroup.

Conclusion: In conclusion, the minor T allele of CRP +1444C/T polymorphism was associated with increased PTB risk.
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http://dx.doi.org/10.1155/2020/6634879DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7769630PMC
December 2020

Highly Flowable Nano TiO/Porous Organic Polymer (POP) Supports for Efficient Metallocene Catalysts.

Nanomaterials (Basel) 2020 Dec 29;11(1). Epub 2020 Dec 29.

Lanzhou Petrochemical Research Center, Petrochemical Research Institute, PetroChina, Lanzhou 730060, China.

Porous organic polymers (POPs) have proven to be an efficient support in the olefin polymerization catalyst field. In this paper, nano TiO beads were used to modulate the pore structure, bulk density, and surface morphology and flowability of the prepared POPs. With the incorporation of the hydrophilic nano TiO beads, the prepared TiO/POP supports obtained reasonable specific surface area (100-300 m/g) and higher bulk density (0.26-0.35 g/mL) and flowability than the pure POP supports. The results show that bulk density of the prepared TiO/POP particles increased when adding an increased amount of TiO, and when 37.5% TiO (weight percent to the total comonomers divinylbenzene (DVB) and 2-hydroxyethyl methacrylate (HEMA)) and 3:1 DVB/HEMA (molar ratio) were added, highly flowable TiO/POP composites (POP-6 and POP-7) were obtained. With the modulation of the nano TiO template during the support synthesis, the prepared POP-7 particles successfully achieved a normal distribution with a narrow particle size distribution (PSD) of 0.717 and average particle size of 24.1 m, a specific surface area (SSA) of 279 m/g, and relatively high bulk density of 0.30 g/mL. Furthermore, all the prepared TiO/POP supports obtained higher ethylene polymerization activity than silica gel-supported commercial metallocene catalyst. The immobilized (n-BuCp)ZrCl/[email protected] catalyst exhibited the highest ethylene polymerization activity of 4794 kg PE/mol Zr.bar.h and productivity of 389 g PE/g cat, more than twice that of the commercial counterpart. Even higher catalyst productivity (3197 g PE/g cat) and bulk density of the produced PE (0.36 g/mL) could be obtained in higher ethylene partial pressure at 80 ∘C for 2 h, and the prepared TiO/POP catalyst shows no obvious Zr active sites decay during the ethylene polymerization.
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http://dx.doi.org/10.3390/nano11010060DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7823374PMC
December 2020

An aberrant 8 intron 1 inversion with concomitant large duplication and deletion in a Chinese severe hemophilia A patient.

Hematology 2021 Dec;26(1):53-57

Department of Laboratory Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, People's Republic of China.

Objectives: Hemophilia A (HA, OMIM: 306700) is an X-linked recessive bleeding disorder, caused by defects of the gene which encodes the coagulation factor VIII (FVIII). F8 intron 22 and intron 1 inversion (Inv22 and Inv1) account for ∼45% and 1-5% of severe HA cases, respectively. We herein described an aberrant Inv1 with concomitant large duplication and deletion in a Chinese severe HA patient.

Methods: Long distance PCR and multiplex PCR were used to detect Inv22 and Inv1. Multiplex ligation-dependent probe amplification (MLPA) was applied to examine exonic duplication and deletion of the gene. Coverage analysis of read depth data from whole-genome sequencing (WGS) was used to analyze the intronic duplication and deletion of the gene.

Results: We have identified an aberrant F8 Inv1 in a 1-year-old Chinese severe HA patient showing inversed int1h-1 and normal int1h-2. Coverage analysis of WGS data further illustrated the aberrant Inv1 with concomitant a duplication of 117 kb and a deletion of 1.8 kb.

Conclusion: In conclusion, we reported an aberrant Inv1 with concomitant large duplication and deletion in a severe Chinese HA patient. Moreover, WGS provides rapid genetic diagnosis of hereditary disorders with point mutations, deletions, insertions and CNVs.
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http://dx.doi.org/10.1080/16078454.2020.1867793DOI Listing
December 2021