Publications by authors named "Ying Liu"

6,770 Publications

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Simultaneous adoption of diversification and agricultural credit to manage catastrophic risk for maize production in Bangladesh.

Environ Sci Pollut Res Int 2021 Jun 11. Epub 2021 Jun 11.

College of Economics and Management, Huazhong Agricultural University, Wuhan, 430070, People's Republic of China.

Risk management strategies are made up of response variability that may lessen the likeliness of an unfavorable event occurring and/or decrease the damaging consequences if that event happens. To minimize the risk, farmers respond in three ways which are considered to be risk managing tools; these are production, marketing, and financial responses. This study aimed to look at the potential associations and effects of implementing multiple risk management techniques at the same time, as very limited number of research is available in this field. Stratified random sampling technique was used to collect 350 farmer's responses from four different agro-ecological districts of Bangladesh. This study applied bivariate and multinomial probit models to investigate the effects of social and farm features, farmers' views of disastrous risk, and their attitudes toward risk sources, as well as potential associations between diversification and agricultural credit as a risk management tool. The outcomes identified the correlation between adoptions of multiple risk management strategies and concluded that one risk management approach can convince farmers to follow another at the same time. Moreover, the outcomes observed that age, educational status, farm size, family returns, land ownership, and risk-opposed character of farmers were the most persuading aspects for adopting different risk management strategies. Besides, the results presented other interpretations and information which will clarify farmer's actions when it comes to handling various devastating risks and will also provide the policymakers with a platform to prepare for appropriate risk managing plans concerning farmers.
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http://dx.doi.org/10.1007/s11356-021-14737-1DOI Listing
June 2021

Effectiveness and safety of moxibustion for Parkinson disease: A protocol for systematic review and meta-analysis.

Medicine (Baltimore) 2021 Jun;100(23):e26256

The Second Affiliated Hospital of Guangzhou University of Chinese Medicine.

Background: Parkinson disease (PD) is a common neurodegenerative disease among middle-aged and elderly people. Clinically, it is a movement disorder characterized mainly by static tremors, kinesia, myotonia, and postural balance disorder. In recent years, an increasing number of clinical reports on moxibustion therapy for PD have been published. Despite this, no systematic review of moxibustion therapy for PD has been undertaken.

Methods: Two reviewers will search the following 7 English and Chinese databases online: the Cochrane Library; PubMed; EMBASE; the China National Knowledge Infrastructure; the Wan Fang databases; the China Science and Technology Journal Database; and the Chinese Biomedical Literature Database. Reviewers will search each electronic database for studies published from journal inception to May 2021. Two reviewers will independently conduct clinical study inclusion, data extraction, and risk bias assessment. Any differences in the above process will be resolved through discussion with a third reviewer. If the data are sufficient, RevMan software 5.3 (Cochrane Community, London, UK) will be used for the meta-analysis of the extracted data.

Results: In this systematic review, the effectiveness and safety of moxibustion therapy in PD treatment will be evaluated.

Conclusion: This systematic review may provide further evidence to encourage clinicians to use moxibustion in the treatment of PD.

Inplasy Registration Number: INPLASY202140097.
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http://dx.doi.org/10.1097/MD.0000000000026256DOI Listing
June 2021

Going to extremes - a metagenomic journey into the dark matter of life.

FEMS Microbiol Lett 2021 Jun 11. Epub 2021 Jun 11.

Matis ohf, Vinlandsleid 12, Reykjavik 113, Iceland.

The Virus-X-Viral Metagenomics for Innovation Value-project was a scientific expedition to explore and exploit uncharted territory of genetic diversity in extreme natural environments such as geothermal hot springs and deep-sea ocean ecosystems. Specifically, the project was set to analyse and exploit viral metagenomes with the ultimate goal of developing new gene products with high innovation value for applications in biotechnology, pharmaceutical, medical, and the life science sectors. Viral gene pool analysis is also essential to obtain fundamental insight into ecosystem dynamics and to investigate how viruses influence the evolution of microbes and multicellular organisms. The Virus-X Consortium, established in 2016, included experts from eight European countries. The unique approach based on high throughput bioinformatics technologies combined with structural and functional studies resulted in the development of a biodiscovery pipeline of significant capacity and scale. The activities within the Virus-X consortium cover the entire range from bioprospecting and methods development in bioinformatics to protein production and characterisation, with the final goal of translating our results into new products for the bioeconomy. The significant impact the consortium made in all of these areas was possible due to the successful cooperation between expert teams that worked together to solve a complex scientific problem using state-of-the-art technologies as well as developing novel tools to explore the virosphere, widely considered as the last great frontier of life.
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http://dx.doi.org/10.1093/femsle/fnab067DOI Listing
June 2021

A poplar B-box protein PtrBBX23 modulates the accumulation of anthocyanins and proanthocyanidins in response to high light.

Plant Cell Environ 2021 Jun 10. Epub 2021 Jun 10.

Laboratory of Forest Symbiology, Asian Natural Environmental Science Center, The University of Tokyo, 1-1-8 Midori-cho, Nishitokyo, Tokyo, Japan.

Flavonoids, which modulate plant resistance to various stresses, can be induced by high light. B-box (BBX) transcription factors (TFs) play crucial roles in the transcriptional regulation of flavonoids biosynthesis, but limited information is available on the association of BBX proteins with high light. We present a detailed overview of 45 Populus trichocarpa BBX TFs. Phylogenetic relationships, gene structure, tissue-specific expression patterns, and expression profiles were determined under 10 stress or phytohormone treatments to screen candidate BBX proteins associated with the flavonoid pathway. Sixteen candidate genes were identified, of which five were expressed predominantly in young leaves and roots, and BBX23 showed the most distinct response to high light. Overexpression of BBX23 in poplar activated expression of MYB TFs and structural genes in the flavonoid pathway, thereby promoting accumulation of proanthocyanidins and anthocyanins. CRISPR/Cas9-generated knockout of BBX23 resulted in the opposite trend. Furthermore, the phenotype induced by BBX23 overexpression was enhanced under exposure to high light. BBX23 was capable of binding directly to the promoters of proanthocyanidin- and anthocyanin-specific genes, and its interaction with HY5 enhanced activation activity. We identified novel regulators of flavonoid biosynthesis in poplar, thereby enhancing our general understanding of the transcriptional regulatory mechanisms involved. This article is protected by copyright. All rights reserved.
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http://dx.doi.org/10.1111/pce.14127DOI Listing
June 2021

Traditional Chinese Medicine Qingre Huoxue Treatment vs. the Combination of Methotrexate and Hydroxychloroquine for Active Rheumatoid Arthritis: A Multicenter, Double-Blind, Randomized Controlled Trial.

Front Pharmacol 2021 25;12:679588. Epub 2021 May 25.

Guang'anmen Hospital China Academy of Chinese Medical Sciences, Beijing, China.

Traditional Chinese medicine (TCM) has been used successfully to treat rheumatoid arthritis (RA). Qingre Huoxue treatment (Qingre Huoxue decoction (QRHXD)/Qingre Huoxue external preparation (QRHXEP)) is a therapeutic scheme of TCM for RA. To date, there have been few studies comparing the efficacy and safety of QRHXD and conventional synthetic disease-modifying antirheumatic drugs (csDMARDs) for the treatment of active RA. This was investigated in a multicenter, double-blind, randomized controlled trial involving 468 Chinese patients with active RA [disease activity score (DAS)-28 > 3.2] treated with QRHXD/QRHXEP (TCM group), methotrexate plus hydroxychloroquine [Western medicine (WM) group], or both [integrative medicine (IM) group]. Patients were followed up for 24 weeks. The primary outcome measure was the change in DAS-28 from baseline to 24 weeks. The secondary outcome measures were treatment response rate according to American College of Rheumatology 20, 50, and 70% improvement criteria (ACR-20/50/70) and the rate of treatment-related adverse events (TRAEs). The trial was registered at ClinicalTrials.gov (NCT02551575). DAS-28 decreased in all three groups after treatment ( < 0.0001); the score was lowest in the TCM group ( < 0.05), while no difference was observed between the WM and IM groups ( > 0.05). At week 24, ACR-20 response was 73.04% with TCM, 80.17% with WM, and 73.95% with IM (based on the full analysis set [FAS], > 0.05); ACR-50 responses were 40.87, 47.93, and 51.26%, respectively, (FAS, > 0.05); and ACR-70 responses were 20.87, 22.31, and 25.21%, respectively, (FAS, > 0.05). Thus, treatment efficacy was similar across groups based on ACR criteria. On the other hand, the rate of TRAEs was significantly lower in the TCM group compared to the other groups ( < 0.05). Thus, QRHXD/QRHXEP was effective in alleviating the symptoms of active RA-albeit to a lesser degree than csDMARDs-with fewer side effects. Importantly, combination with QRHXD enhanced the efficacy of csDMARDs. These results provide evidence that QRHXD can be used as an adjunct to csDMARDs for the management of RA, especially in patients who experience TRAEs with standard drugs. Clinical Trial Registration: ClinicalTrials.gov, identifier NCTNCT025515.
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http://dx.doi.org/10.3389/fphar.2021.679588DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8186316PMC
May 2021

Single-cell RNA sequencing of human femoral head .

Aging (Albany NY) 2021 Jun 10;13. Epub 2021 Jun 10.

Center for System Biology, Data Sciences, and Reproductive Health, School of Basic Medical Science, Central South University, Yuelu, Changsha 410013, China.

The homeostasis of bone metabolism depends on the coupling and precise regulation of various types of cells in bone tissue. However, the communication and interaction between bone tissue cells at the single-cell level remains poorly understood. Thus, we performed single-cell RNA sequencing (scRNA-seq) on the primary human femoral head tissue cells (FHTCs). Nine cell types were identified in 26,574 primary human FHTCs, including granulocytes, T cells, monocytes, B cells, red blood cells, osteoblastic lineage cells, endothelial cells, endothelial progenitor cells (EPCs) and plasmacytoid dendritic cells. We identified () and () as novel bone metabolism-related genes. Additionally, we found that several subtypes of monocytes, T cells and B cells were related to bone metabolism. Cell-cell communication analysis showed that collagen, chemokine, transforming growth factor and their ligands have significant roles in the crosstalks between FHTCs. In particular, EPCs communicated with osteoblastic lineage cells closely via the "COL2A1-ITGB1" interaction pair. Collectively, this study provided an initial characterization of the cellular composition of the human FHTCs and the complex crosstalks between them at the single-cell level. It is a unique starting resource for in-depth insights into bone metabolism.
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http://dx.doi.org/10.18632/aging.203124DOI Listing
June 2021

T2R12 gene variation in Chinese native cattle owing to banteng introgression.

Anim Genet 2021 Jun 10. Epub 2021 Jun 10.

Key Laboratory of Animal Genetics, Breeding and Reproduction of Shaanxi Province, College of Animal Science and Technology, Northwest A&F University, Yangling, 712100, China.

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http://dx.doi.org/10.1111/age.13101DOI Listing
June 2021

Selective adsorption of malachite green (MG) and fuchsin acid (FA) by ZIF-67 hybridized polyvinylidene fluoride (PVDF) membranes.

Dalton Trans 2021 Jun 10. Epub 2021 Jun 10.

Department of Chemistry, College of Sciences, Northeastern University, Shenyang, 110819, China.

MOF/polymer hybrid membranes integrate the surface activity of MOFs and the advantages of PVDF membranes, and can be used as adsorption membranes in the efficient removal of target organics. In this work, a new hybrid membrane of ZIF-67/PVDF with varying ZIF-67 dosages has been fabricated through a facile mechanical blending followed by a lyotropic phase transition. Methods including field-emission scanning electron microscopy (FESEM), X-ray diffraction (XRD), FT-IR analyses and surface hydrophobicity/hydrophilicity measurements are applied to characterize the structure, physicochemical properties and membrane performances. Two synthetic triarylmethane dyes, cationic malachite green (MG) and anionic fuchsin acid (FA), are chosen as the main adsorption targets to evaluate the adsorption capacities of the resulting ZIF-67/PVDF hybrid membranes. Interestingly, all of the ZIF-67/PVDF hybrid membranes exhibit distinctly favorable efficiencies and selectivities toward MG and FA compared to pristine PVDF, which proves the positive roles of ZIF-67 in the adsorption ability of the hybrid membranes. The adsorption conditions are optimized and the adsorption kinetics and thermodynamics are analysed to study the adsorption mechanism. The reusability and the structural stability of the hybrid membranes undergoing cyclic adsorption processes are also discussed. To the best of our knowledge, this is the first time that good adsorption capacities for MG and FA for these MOF/PVDF membranes have been reported. This work highlights the prospective applications of MOF/PVDF hybrid membranes in the rapid and effective removal of target organics in the treatment of waste water.
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http://dx.doi.org/10.1039/d1dt01000jDOI Listing
June 2021

The Mediating Role of Perceived Social Support Between Resilience and Anxiety 1 Year After the COVID-19 Pandemic: Disparity Between High-Risk and Low-Risk Nurses in China.

Front Psychiatry 2021 24;12:666789. Epub 2021 May 24.

The Affiliated Suzhou Science and Technology Town Hospital of Nanjing Medical University, Suzhou, China.

One year after the Coronavirus disease 2019 (COVID-19) outbreak, China has made substantial progress in the prevention and control of the pandemic, while the epidemic situation remains grim in China since virus may easily survive with the falling temperature in winter. The present study aimed to compare the prevalence and associated factors of anxiety between high-risk and low-risk nurses 1 year after the COVID-19 outbreak, and examine the association between resilience and anxiety and its underlying mechanisms. Connor-Davidson Resilience scale, Perceived Social Support Scale and Generalized Anxiety Disorder Scale were administrated to 701 nurses from Jiangsu Province, China, 1 year after the COVID-19 outbreak. The mediating effect was examined by Mackinnon's four-step procedure, while the moderated mediation model was tested by Hayes PROCESS macro. The findings presented the prevalence of anxiety among nurses was 21.4% 1 year after the COVID-19 pandemic. High-risk nurses presented a higher prevalence of anxiety (24.5 vs. 19.3%) than low-risk nurses. Age and professional title were significantly associated with anxiety only in high-risk nurses (all < 0.05). Perceived social support mediated the association between resilience and anxiety and the indirect effect was stronger for high-risk nurses than low-risk nurses. Anxiety remains prevalent among nurses 1 year after the COVID-19 outbreak, and resilience plays a protective role against anxiety. Programs that enhance resilience and social support should be designed and special attention should be paid to nurses from high-risk units.
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http://dx.doi.org/10.3389/fpsyt.2021.666789DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8180566PMC
May 2021

RNA mA modification orchestrates a LINE-1-host interaction that facilitates retrotransposition and contributes to long gene vulnerability.

Cell Res 2021 Jun 9. Epub 2021 Jun 9.

Department of Biochemistry and Molecular Biology, McGovern Medical School, University of Texas Health Science Center, Houston, TX, USA.

The molecular basis underlying the interaction between retrotransposable elements (RTEs) and the human genome remains poorly understood. Here, we profiled N-methyladenosine (mA) deposition on nascent RNAs in human cells by developing a new method MINT-Seq, which revealed that many classes of RTE RNAs, particularly intronic LINE-1s (L1s), are strongly methylated. These mA-marked intronic L1s (MILs) are evolutionarily young, sense-oriented to hosting genes, and are bound by a dozen RNA binding proteins (RBPs) that are putative novel readers of mA-modified RNAs, including a nuclear matrix protein SAFB. Notably, mA positively controls the expression of both autonomous L1s and co-transcribed L1 relics, promoting L1 retrotransposition. We showed that MILs preferentially reside in long genes with critical roles in DNA damage repair and sometimes in L1 suppression per se, where they act as transcriptional "roadblocks" to impede the hosting gene expression, revealing a novel host-weakening strategy by the L1s. In counteraction, the host uses the SAFB reader complex to bind mA-L1s to reduce their levels, and to safeguard hosting gene transcription. Remarkably, our analysis identified thousands of MILs in multiple human fetal tissues, enlisting them as a novel category of cell-type-specific regulatory elements that often compromise transcription of long genes and confer their vulnerability in neurodevelopmental disorders. We propose that this mA-orchestrated L1-host interaction plays widespread roles in gene regulation, genome integrity, human development and diseases.
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http://dx.doi.org/10.1038/s41422-021-00515-8DOI Listing
June 2021

Virome of respiratory secretion from children with unknown etiological acute respiratory disease revealed recombinant human parechovirus and other significant viruses.

Virol J 2021 Jun 9;18(1):122. Epub 2021 Jun 9.

Department of Clinical Laboratory, Xuzhou Central Hospital, 199 Jiefangnan Road, Xuzhou, 221009, Jiangsu, China.

Using viral metagenomics, viral nucleic acid in 30 respiratory secretion samples collected from children with unknown etiological acute respiratory disease were investigated. Sequences showing similarity to human parainfluenza virus 1, anellovirus, bocavirus, coxsackievirus A4, human parechovirus (HPeV), and alphaflexivirus were recovered from these samples. Complete genomes of one anellovirus, one coxsackievirus A4, three parechoviruses were determined from these libraries. The anellovirus (MW267851) phylogenetically clustered with an unpublished anellovirus (MK212032) from respiratory sample of a Vietnamese patient, forming a separate branch neighboring to strains within the genus Betatorquevirus. The genome of coxsackievirus A4 (MW267852) shares the highest sequence identity of 96.4% to a coxsackievirus A4 (MN964079) which was identified in clinical samples from children with Hand, Foot, and Mouth Disease (HFMD). Two (MW267853 and MW267854) of the three parechoviruses belong to HPeV-1 and the other one (MW267855) belongs to HPeV-6. Recombination analysis indicated that an HPeV-1 (MW267854) identified in this study is a putative recombinant occurred between HPeV-1 and HPeV-3. Whether these viruses have association with specific respiratory disease calls for further investigation.
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http://dx.doi.org/10.1186/s12985-021-01586-0DOI Listing
June 2021

EGFR-mutant NSCLC presenting with stroke and massive systemic embolization as the first manifestation: case report.

BMC Neurol 2021 Jun 9;21(1):221. Epub 2021 Jun 9.

Department of Neurology, The Second Hospital of Hebei Medical University, 309 Zhonghuabei Street, Hebei, 050000, Shijiazhuang, People's Republic of China.

Background: Presentation with massive systemic embolization as the initial manifestation of occult malignancy is infrequent. The standard management of cancer-related arterial thromboembolism has not yet been established.

Case Presentation: We described a case of Trousseau's syndrome resulting in acute ischemic stroke concomitant with multiple embolizations in the spleen and kidney during oral administration of dabigatran for pulmonary embolism preceding the diagnosis of a malignant tumor. A cancer-related hypercoagulable state was suspected because the patient was admitted to the neurology department due to acute ischemic stroke with three territory infarcts on diffusion-weighted imaging (DWI) in the absence of identifiable conventional risk factors and brain vessel narrowing. The patient was subsequently diagnosed with epidermal growth factor receptor (EGFR) mutation-positive non-small-cell lung cancer (NSCLC) (stage IV) with pleural metastasis. Administration of low-molecular-weight heparin followed by long-term dabigatran under effective cancer therapy comprising gefitinib and subsequent chemotherapy did not cause stroke relapse during the 1-year follow-up.

Conclusions: This case suggests that cancer-related hypercoagulability should be considered an important etiology for stroke patients who develop unexplained disseminated acute cerebral infarction without conventional stroke risk factors, especially concomitant with multiple organ embolization. Novel oral anticoagulants may be an alternative therapy for the long-term management of cancer-related arterial thromboembolism under effective cancer therapy.
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http://dx.doi.org/10.1186/s12883-021-02236-2DOI Listing
June 2021

CsPbX -ITO (X = Cl, Br, I) Nano-Heterojunctions: Voltage Tuned Positive to Negative Photoresponse.

Small 2021 Jun 9:e2101403. Epub 2021 Jun 9.

Key Lab of Organic Optoelectronics and Molecular Engineering, Department of Chemistry, Tsinghua University Beijing, Beijing, 100084, P. R. China.

All-Inorganic perovskite CsPbX (X = Cl, Br, I) quantum dots (QDs) have attracted tremendous attention in the past few years for their appealing performance in optoelectronic applications. Major properties of CsPbX QDs include the positive photoconductivity (PPC) and the defect tolerance of the in-band trap states. Here it is reported that when hybridizing CsPbX QDs with indium tin oxide (ITO) nanocrystals to form CsPbX -ITO nano-heterojunctions (NHJs), a voltage tuned photoresponse-from PPC to negative photoconductivity (NPC) transform-is achieved in lateral drain-source structured ITO/CsPbX -ITO-NHJs/ITO devices. A model combining exciton, charge separation, transport, and most critical the voltage driven electron filling of the in-band trap states with drain-source voltage (V ) above a threshold, is proposed to understand this unusual PPC-NPC transform mechanism, which is different from that of any known nanomaterial system. This finding exhibits potentials for developing devices such as photodetectors, optoelectronic switches, and memories.
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http://dx.doi.org/10.1002/smll.202101403DOI Listing
June 2021

Antigenic Drift of the Hemagglutinin from an Influenza A (H1N1) pdm09 Clinical Isolate Increases its Pathogenicity In Vitro.

Virol Sin 2021 Jun 9. Epub 2021 Jun 9.

State Key Laboratory of Respiratory Disease, National Clinical Research Center for Respiratory Disease, Guangzhou Institute of Respiratory Health, The First Affiliated Hospital of Guangzhou Medical University, Guangzhou, 510180, China.

The influenza A (H1N1) pdm09 virus emerged in 2009 and has been continuously circulating in humans for over ten years. Here, we analyzed a clinical influenza A (H1N1) pdm09-infected patient case hospitalized for two months in Guangdong (from December 14, 2019 to February 15, 2020). This isolate, named A/Guangdong/LCF/2019 (LCF/19), was genetically sequenced, rescued by reverse genetics, and phylogenetically analyzed in the context of other relevant pdm09 isolates. Compared with earlier isolates, this pdm09 virus's genetic sequence contains four substitutions, S186P, T188I, D190A, and Q192E, of the hemagglutinin (HA) segment at position 186-192 (H3 numbering) in the epitope Sb, and two of which are located at the 190-helix. Phylogenetic analysis indicated that the epitope Sb started undergoing a rapid antigenic change in 2018. To characterize the pathogenicity of this novel substitution motif, a panel of reassortant viruses containing the LCF/2019 HA segment or the chimeric HA segment with the four substitutions were rescued. Kinetic growth data revealed that the reassortant viruses, including the LCF/2019 with the PTIAAQE substitution, propagated faster than those rescued ones having the STTADQQ motif in the epitope Sb in Madin-Darby Canine Kidney (MDCK) cells. The HI test showed that the binding activity of escape mutant to 2018 pdm09 sera was weaker than GLW/2018, suggesting that old vaccines might not effectively protect people from infection. Due to the difference in the selection of vaccine strains, people vaccinated in the southern hemisphere could still suffer a severe infection if infected with this antigenic drift pdm09 virus.
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http://dx.doi.org/10.1007/s12250-021-00401-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8188537PMC
June 2021

High frequency ultrasound-guided pericardiocentesis performed in the sitting position: A novel apical approach.

Clin Cardiol 2021 Jun 8. Epub 2021 Jun 8.

Department of Ultrasound, Harbin Medical University Cancer Hospital, Harbin, China.

Background: So far, few approaches have been described to reduce inadvertent injury to structure of the heart and nearby organs in percutaneous pericardiocentesis.

Hypothesis: We hypothesized that an in-plane high frequency ultrasound-guided apical approach, performed in the sitting position, would provide additional benefits in terms of feasibility and safety for draining malignant pericardial effusion (MPE).

Methods: The authors selected 53 consecutive patients with moderate or large symptomatic MPE who underwent high frequency ultrasound-guided pericardiocentesis. After the procedure, all patients were followed for 90 days with the main purpose of detecting procedure success, procedure-related complications, and recurrent PE.

Results: Procedure success rate for pericardiocentesis was 100%. All patients were placed in the sitting position with their left hands extended above the heads. An apical puncture approach was performed in all cases (100%). The mean duration of catheter drainage was 8.1 ± 3.2 days. The mean initial amount of pericardial fluid drained was 956.3 ± 687.5 ml. Overall, six patients (11%) had recurrent PE; 3 (6%) had repeated percutaneous pericardiocentesis. There was no major complication and minor complications occurred in four patients (8%).

Conclusion: This novel in-plane high frequency US-guided apical approach has several advantages for percutaneous pericardiocentesis of MPE: performed in the sitting position; a benefit for patients with orthopnea; a maximum inserted wide angle to prevent damage to the myocardium; local enlargement of the PE region; high procedure success rate of pericardiocentesis; and excellent clinical outcomes.
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http://dx.doi.org/10.1002/clc.23657DOI Listing
June 2021

Neuroprotective Activities of Constituents from Phyllosticta capitalensis, an Endophyte Fungus of Loropetalum chinense var. rubrum.

Chem Biodivers 2021 Jun 8. Epub 2021 Jun 8.

China Pharmaceutical University, Department of Natural Medicinal Chemistry, China Pharmaceutical University Xuanwumen Campus, No.24, Tongjiaxiang, Gulou Dis, China Pharmaceutical University Jiangning Campus, No.639,Longmiandadao, Jiangnin, 210009, Nanjing, CHINA.

One new dioxolanone derivative, guignardianone G ( 1 ) and twelve known compounds ( 2 - 13 ) were isolated from the 95% ethanol extract of the plant endophytic fungus Phyllosticta capitalensis cultured in rice medium. Among the known compounds isoaltenuene ( 3 ), brassicasterol ( 7 ), 5,6-epoxyergosterol ( 8 ), citreoanthrasteroid A ( 9 ), demethylincisterol A ( 10 ), chaxine C ( 11 ) were reported from Phyllosticta sp. for the first time. The structures of 1 was elucidated by 1D- and 2D-NMR experiments and HR-ESI-MS data analysis, and its absolute configuration was established through the comprehensive use of the methods of modified Mosher methods, calculations of ECD spectra and optical rotation values. The neuroprotective activity of compounds 1 - 9 , 11 - 13 were evaluated on PC12 cells damage induced by glutamate, and compounds 9 and 12 showed potential neuroprotective activities and compounds 9 and 12 with half effective concentration (EC 50 ) of 24.2 and 33.9 μ M, respectively.
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http://dx.doi.org/10.1002/cbdv.202100314DOI Listing
June 2021

Enhanced mechanism of extracellular electron transfer between semiconducting minerals anatase and Pseudomonas aeruginosa PAO1 in euphotic zone.

Bioelectrochemistry 2021 May 26;141:107849. Epub 2021 May 26.

The Key Laboratory of Orogenic Belts and Crustal Evolution, School of Earth and Space Sciences, Peking University, Beijing Key Laboratory of Mineral Environmental Function, Beijing 100871, China. Electronic address:

Focusing the marine euphotic zone, which is the pivotal region for interaction of solar light-mineral-microorganism and the elements cycle, we have conducted the research on the mechanism of semiconducting minerals promoting extracellular electron transfer with microorganisms in depth. Therein, anatase which is one of the most representative semiconducting minerals in marine euphotic zone was selected. The mineralogical characterization of anatase was identified by ESEM, AFM, EDS, Raman, XRD, and its semiconducting characteristics was determined by UV-Vis and Mott-Schottky plots. Determined by the electrochemical measurement of I-t curves, the photocurrent density of anatase was more prominent than dark current density. Pseudomonas aeruginosa PAO1 was widely distributed in the euphotic zone, and its mutants of operons deficient in biosynthesis pyocyanin (Δphz1Δphz2) and pili deficient (ΔpilA) were employed in this study. I-t curves indicated that both direct and indirect extracellular electron transfer processes occurred between anatase and PAO1. The indirect electron transfer depending on pyocyanin secreted by PAO1 was the main electron transfer mode. This work demonstrated the light-driven extracellular electron transfer and further revealed the photo-catalyzed mechanisms between anatase and PAO1 in marine euphotic zone.
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http://dx.doi.org/10.1016/j.bioelechem.2021.107849DOI Listing
May 2021

Cardioprotective Effect of Quercetin against Ischemia/Reperfusion Injury Is Mediated Through NO System and Mitochondrial K-ATP Channels.

Cell J 2021 Jul 26;23(2):184-190. Epub 2021 May 26.

The Center of Gerontology and Geriatrics, West China Hospital, Sichuan University, Chengdu, Sichuan, China.Email:

Objective: Quercetin (Que) is a plant-derived polyphenolic compound, that was shown to possess anti-inflammatory activity in myocardial ischemia/reperfusion (I/R) models ; however, detailed mechanisms of its anti-inflammatory effects remain unclear. This study aimed to examine the effects of quercetin postconditioning (QPC) on I/R-induced inflammatory response in a rat model and evaluate the role of the mitochondrial K-ATP (mitoK) channels and NO system in this regard.

Materials And Methods: In this experimental study, hearts of male Wistar rats (250 ± 20 g) perused by Langendorff apparatus, were subjected to 30 minutes of global ischemia followed by 55 minutes reperfusion, and Que was added to the perfusion solution immediately at the onset of reperfusion. Creatine kinase (CK) levels in the coronary effluent were measured by spectrophotometry. Interleukin-1 (IL-1β), IL-6, and tumor necrosis factor-alpha (TNF-α) levels were analyzed by an enzyme-linked immunosorbent assay (ELISA) rat specific kit to assess the inflammatory condition of the myocardial tissue.

Results: Our results showed that QPC significantly improved left ventricular developed pressure (LVDP) (P<0.05), and decreased the CK release into the coronary effluent vs. control group (P<0.01). The levels of IL-1β (P<0.01), TNF-α (P<0.01), and IL-6 (P<0.05) were significantly diminished in Que-treated groups when compared to the control group. Inhibiting mitoK channels by 100 μM 5-hydroxydecanoate and blocking NO system by 100 μM L-NAME reversed the cardioprotective effects of Que.

Conclusion: The findings of this study suggested that QPC exerts cardioprotective effects on myocardial I/R injury (MIRI) through inhibition of inflammatory reactions and improvement of contractility potential. Also, mitoK channels and NO system might be involved in this anti-inflammatory effect.
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http://dx.doi.org/10.22074/cellj.2021.7183DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8181321PMC
July 2021

Roles of Dental Mesenchymal Stem Cells in the Management of Immature Necrotic Permanent Teeth.

Front Cell Dev Biol 2021 19;9:666186. Epub 2021 May 19.

State Key Laboratory of Oral Diseases, National Clinical Research Center for Oral Diseases, Department of Cariology and Endodontics, West China Hospital of Stomatology, Sichuan University, Chengdu, China.

Dental caries and trauma always lead to pulp necrosis and subsequent root development arrest of young permanent teeth. The traditional treatment, apexification, with the absence of further root formation, results in abnormal root morphology and compromises long-term prognosis. Regeneration endodontics procedures (REPs) have been developed and considered as an alternative strategy for management of immature permanent teeth with pulpal necrosis, including cell-free and cell-based REPs. Cell-free REPs, including revascularization and cell homing with molecules recruiting endogenous mesenchymal stem cells (MSCs), have been widely applied in clinical treatment, showing optimistic periapical lesion healing and continued root development. However, the regenerated pulp-dentin complex is still absent in these cases. Dental MSCs, as one of the essentials of tissue engineering, are vital seed cells in regenerative medicine. Dental MSC-based REPs have presented promising potential with pulp-dentin regeneration in large animal studies and clinical trials via cell transplantation. In the present review, we summarize current understanding of the biological basis of clinical treatments for immature necrotic permanent teeth and the roles of dental MSCs during this process and update the progress of MSC-based REPs in the administration of immature necrotic permanent teeth.
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http://dx.doi.org/10.3389/fcell.2021.666186DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8170050PMC
May 2021

CircRNA-ceRNA Network Revealing the Potential Regulatory Roles of CircRNA in Alzheimer's Disease Involved the cGMP-PKG Signal Pathway.

Front Mol Neurosci 2021 21;14:665788. Epub 2021 May 21.

Institute of Biomedical Research, School for Life Sciences, Shandong University of Technology, Zibo, China.

Alzheimer's disease (AD) is a chronic progressive neurodegenerative disease. The characteristic pathologies include extracellular senile plaques formed by β-amyloid protein deposition, neurofibrillary tangles formed by hyperphosphorylation of tau protein, and neuronal loss with glial cell hyperplasia. Circular RNAs (circRNAs) are rich in miRNA-binding sites (miRNA response elements, MREs), which serve as miRNA sponges or competitive endogenous RNAs (ceRNAs). Although several research groups have identified dysregulated circRNAs in the cerebral cortex of SAMP8 mice or APP/PS1 mice using deep RNA-seq analysis, we need to further explore circRNA expression patterns, targets, functions and the signaling pathways involved in the pathogenesis of AD and in particular the hippocampal circRNA expression profiles in AD. We used deep RNA sequencing to investigate circRNA-ceRNA network patterns in the hippocampus of APP/PS1 mice. In our study, 70 dysregulated circRNAs, 39 dysregulated miRNAs and 121 dysregulated mRNAs were identified between the APP/PS1 group and the wild-type group at 8 months in the hippocampus of the mice. Through correlation analysis, we identified 11 dysregulated circRNAs, 7 dysregulated miRNAs and 8 dysregulated mRNAs forming 16 relationships in the circRNA-miRNA-mRNA regulatory network. Gene ontology (GO) analysis indicated that the dysregulated circRNAs were most enriched in biological metabolic processes. Kyoto Encyclopedia of Genes and Genomes (KEGG) analysis showed that the dysregulation of circRNAs was enriched in the cGMP-PKG signaling pathway, cAMP signaling pathway, Hippo signaling pathway, platelet activation, long-term potentiation and axon guidance. In addition, our findings preliminarily verified that the novel_circ_0003012/mmu-miR-298-3p/Smoc2 signaling axis may regulate the pathophysiology of AD by affecting the cGMP-PKG signaling pathway. These newly identified circRNAs in networks and signaling pathways reveal potential diagnostic or therapeutic targets for AD.
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http://dx.doi.org/10.3389/fnmol.2021.665788DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8176118PMC
May 2021

P53 inhibitor pifithrin-α inhibits ropivacaine-induced neuronal apoptosis via the mitochondrial apoptosis pathway.

J Biochem Mol Toxicol 2021 Jun 6:e22822. Epub 2021 Jun 6.

Department of Anesthesiology, Xiangyang No. 1 People's Hospital, Hubei University of Medicine, Xiangyang, Hubei, China.

The neurotoxicity of local anesthetics (LAs) has attracted more and more attention, However, they lack preventive and therapeutic measures. Many studies have shown that apoptosis plays an important role in the process of LA-induced neurotoxicity. As an important signaling molecule to activate apoptosis, p53 has been proved to be involved in the neurotoxicity induced by LAs, but the mechanism is unclear. In this study, we explored the effect of pifithrin-α (PFT-α), a p53 inhibitor, on apoptosis by ropivacaine (Rop) in vivo and in vitro. Cell viability and apoptosis detected by CCK-8 and a JC-1 apoptosis detection kit, the changes of spinal cord structure observed after hematoxylin and eosin staining, apoptosis of the spinal cord measured by terminal deoxynucleotidyl transferase dUTP nick end labeling staining, behavioral assessment of the nerve Injury evaluated by the detection of sciatic nerve conduction velocity (SNCV) andmechanical withdrawal threshold (MWT), the expression of p53 and many apoptosis-related genes included Bax, Bcl-2, and caspase-3 detected by quantitative real-time polymerase chain reaction, Western blot analysis, immunofluorescence, and immunohistochemistry. Results showed that PC12 cell viability decreased because of Rop, but the pretreatment of PFT-α could protect it. And PFT-α reduced the injuries in the spinal cord by Rop included vacuoles or edema. The results of immunofluorescence and immunohistochemistry testing showed that PFT-α inhibited the p53 protein upregulated by Rop. Apoptosis rate and many proapoptotic genes include p53, Bax, caspase-3 messenger RNA, and proteins were increased by Rop, but PFT-α could decrease it. In conclusion, PFT-α inhibited cell apoptosis and spinal cord injuries induced by Rop.
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http://dx.doi.org/10.1002/jbt.22822DOI Listing
June 2021

Is adjuvant therapy a better option for esophageal squamous cell carcinoma patients treated with esophagectomy? A prognosis prediction model based on multicenter real-world data.

Ann Surg 2021 Jun 2. Epub 2021 Jun 2.

Key laboratory of Carcinogenesis and Translational Research (Ministry of Education/Beijing), Laboratory of Genetics, Peking University Cancer Hospital & Institute, Beijing, People's Republic of China Anyang Cancer Hospital, Henan Province, People's Republic of China Cancer Hospital of Shantou University Medical College, Guangdong Province, People's Republic of China Department of Non-communicable Disease Epidemiology, London School of Hygiene & Tropical Medicine, London, UK Key laboratory of Carcinogenesis and Translational Research (Ministry of Education/Beijing), Department of Information Technology Service, Peking University Cancer Hospital & Institute, Beijing, People's Republic of China Linkdoc AI Research (LAIR), Beijing, People's Republic of China.

Objective: To construct a prediction model for more precise evaluation of prognosis which will allow personalized treatment recommendations for adjuvant therapy in patients following resection of esophageal squamous cell carcinoma (ESCC).

Background: Marked heterogeneity of patient prognosis and limited evidence regarding survival benefit of various adjuvant therapy regimens pose challenges in the clinical treatment of ESCC.

Methods: Based on comprehensive clinical data obtained from 4,129 consecutive patients with resected ESCC in a high-risk region in China, we identified predictors for overall survival (OS) through a two-phase selection based on Cox proportional hazard regression and minimization of Akaike information criterion. The model was internally validated using bootstrapping and externally validated in 1,815 patients from a non-high-risk region in China.

Results: The final model incorporates nine variables: age, sex, primary site, T stage, N stage, number of lymph nodes harvested, tumor size, adjuvant treatment, and hemoglobin level. A significant interaction was also observed between N stage and adjuvant treatment. N1+ stage patients were likely to benefit from addition of adjuvant therapy as opposed to surgery alone, but adjuvant therapy did not improve OS for N0 stage patients. The C-index of the model was 0.729 in the training cohort, 0.723 after bootstrapping, and 0.695 in the external validation cohort. This model outperformed the seventh edition American Joint Committee on Cancer staging system in prognostic prediction and risk stratification.

Conclusion: The prediction model constructed in this study may facilitate precise prediction of survival and inform decision-making about adjuvant therapy according to N stage.
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http://dx.doi.org/10.1097/SLA.0000000000004958DOI Listing
June 2021

Survival outcome after stereotactic body radiotherapy for locally advanced and borderline resectable pancreatic cancer: A systematic review and meta-analysis.

Transl Oncol 2021 Jun 2;14(8):101139. Epub 2021 Jun 2.

Department of Radiation Oncology, Fox Chase Cancer Center, Philadelphia, United States. Electronic address:

Background: Some studies reported stereotactic body radiotherapy (SBRT) has demonstrated superior therapeutic results than conventional radiotherapy. Nevertheless, this statement is controversial and the trial attempting to prove this is underway. We conducted this systemic review and meta-analysis aiming to combine the latest and most complete information about the survival outcomes and toxicities following SBRT for locally advanced pancreatic cancer (LAPC) and borderline resectable pancreatic cancer (BRPC).

Methods: Items involving SBRT and pancreatic cancer were searched in PubMed, EMBASE, Cochrane Library, SCOPUS and Web of Science. Median overall survival (OS), 1/2/3-year OS, median progression-free survival (PFS), 1/2/3-year PFS and incidence of grade 3-5 toxicities were the endpoints of interest in this meta-analysis. These endpoint proportions were pooled and analyzed using R.

Results: For the LAPC series, the median OS was 14.1 months; pooled 1/2/3-year OS rates were 57%, 19% and 10%, respectively; the median PFS was 10 months; pooled 1/2/3-year PFS rates were 36%, 12% and 4%; pooled incidence rates of acute gastrointestinal (GI), acute hematologic and late GI toxicity (grade≥3) were 2%, 4% and 8%. For the BRPC series, the median OS was 17.5 months; pooled 1/2-year OS rates were 75% and 29%; the median PFS was 12.2 months; pooled 1/2-year PFS rates were 48% and 18%; the incidence rates of toxicity (grade ≥ 3) were all 0%.

Conclusions: Our meta-analysis based on published results of OS, PFS and incidence rates of toxicity demonstrated that SBRT does not show desirable therapeutic result than the standard therapies for LAPC and BRPC.
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http://dx.doi.org/10.1016/j.tranon.2021.101139DOI Listing
June 2021

Involvement of microRNA-155 in the mechanism of electroacupuncture treatment effects on experimental autoimmune encephalomyelitis.

Int Immunopharmacol 2021 Jun 3;97:107811. Epub 2021 Jun 3.

Department of Neurobiology, Harbin Medical University, No. 194 Xuefu Road, Harbin, Heilongjiang 150081, China; The Key Laboratory of Myocardial Ischemia, Harbin Medical University, Ministry of Education, Harbin, Heilongjiang 150081, China. Electronic address:

Multiple sclerosis (MS) is a neurodegenerative and demyelinating autoimmune disease mediated by autoreactive T cells that affects the central nervous system (CNS). Electroacupuncture (EA) has emerged as an alternative or supplemental treatment for MS, but the mechanism by which EA may alleviate MS symptoms is unresolved. Here, we examined the effects of EA at the Zusanli (ST36) acupoint on mice with experimental autoimmune encephalomyelitis (EAE), the predominant animal model of MS. The effects of EA on EAE emergence, inflammatory cell levels, proinflammatory cytokines, and spinal cord pathology were examined. EA treatment attenuated the EAE clinical score and associated spinal cord demyelination, while reducing the presence of proinflammatory cytokines in mononuclear cells (MNCs), downregulating microRNA (miR)-155, and upregulating the opioid peptide precursor proopiomelanocortin (POMC) in the CNS. Experiments in which cultured neurons were transfected with a miR-155 mimic or a miR-155 inhibitor further showed that the direct modulation of miR-155 levels could regulate POMC levels in neurons. In conclusion, the alleviation of EAE by EA is characterized by reduced proportions of Th1/Th17 cells and increased proportions of Th2 cells, POMC upregulation, and miR-155 downregulation, while miR-155 itself can suppress POMC expression. These results, support the hypothesis that the effects of EA on EAE may involve the downregulation of miR-155.
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http://dx.doi.org/10.1016/j.intimp.2021.107811DOI Listing
June 2021

Recent advances in black phosphorus-based electrochemical sensors: A review.

Anal Chim Acta 2021 Jul 8;1170:338480. Epub 2021 Apr 8.

Hunan Key Laboratory of Biomedical Nanomaterials and Devices, College of Life Sciences and Chemistry, Hunan University of Technology, Zhuzhou, 412007, China.

Since the discovery of liquid-phase-exfoliated black phosphorus (BP) as a field-effect transistor in 2014, BP, with its 2D layered structure, has attracted significant attention, owing to its anisotropic electroconductivity, tunable direct bandgap, extraordinary surface activity, moderate switching ratio, high hole mobility, good biocompatibility, and biodegradability. Several pioneering research efforts have explored the application of BP in different types of electrochemical sensors. This review summarizes the latest synthesis methods, protection strategies, and electrochemical sensing applications of BP and its derivatives. The typical synthesis methods for BP-based crystals, nanosheets, and quantum dots are discussed in detail; the degradation of BP under ambient conditions is introduced; and state-of-the-art protection methodologies for enhancing BP stability are explored. Various electrochemical sensing applications, including chemically modified electrodes, electrochemiluminescence sensors, enzyme electrodes, electrochemical aptasensors, electrochemical immunosensors, and ion-selective electrodes are discussed in detail, along with the mechanisms of BP functionalization, sensing strategies, and sensing properties. Finally, the major challenges in this field are outlined and future research avenues for BP-based electrochemical sensors are highlighted.
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http://dx.doi.org/10.1016/j.aca.2021.338480DOI Listing
July 2021

Association of postoperative recurrence with radiological and clinicopathological features in patients with stage IA-IIA lung adenocarcinoma.

Eur J Radiol 2021 May 29;141:109802. Epub 2021 May 29.

Department of Radiology, Tianjin Medical University Cancer Institute and Hospital, National Clinical Research Center of Cancer, Key Laboratory of Cancer Prevention and Therapy, Huanhuxi Road, Hexi District, Tianjin, 300060, China. Electronic address:

Objectives: To retrospectively investigate whether radiological and clinicopathological characteristics were associated with the presence of stage IA-IIA lung adenocarcinoma in patients at high risk for a postoperative recurrence.

Materials And Methods: Three hundred twelve patients with biopsy-proven node-negative early-stage (IA-IIA) lung adenocarcinoma met the inclusion criteria for this study. Demographics data and histopathological findings were collected from medical records. Computed tomography (CT) performed approximately 1 month before surgery was manually scored using 23 CT descriptors. Univariate analyses were applied to demonstrate an association between clinicopathological and radiological features and 2-/5-year recurrences. Multivariate logistic regression was performed to assess the ability of radiological and clinicopathological features to discriminate low and high-risk factors for recurrence. A ROC curve was used to evaluate prediction performance.

Results: Univariate analysis revealed that the 2-year recurrence was associated with six radiological features and two clinicopathological features, while 5-year recurrence was associated with five radiological features and two clinicopathological features. A multivariate logistic regression model of combined clinicopathological and radiological features showed that stage IIA (OR = 2.87), solid texture (solid part > 50 %: OR = 4.81; solid part = 100 %: OR = 3.61), pleural attachment (OR = 3.97) and bronchovascular bundle thickening (OR = 2.16) were associated with the independent predictors of 2-year recurrence, and stage IIA (OR = 3.52), solid texture (solid part > 50 %: OR = 3.56; solid part = 100 %: OR = 2.44) and pleural attachment (OR = 4.57) were associated with 5-year recurrence. Combined radiological and clinicopathological features could be significant indicators of 2- and 5-year recurrences (AUC = 0.784 and AUC = 0.815, respectively).

Conclusions: The combination of radiological and clinicopathological features has the potential to help predict postoperative recurrence in patients with stage IA-IIA lung adenocarcinomas and guide oncologists and patients whether to undergo additional treatment after surgery.
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http://dx.doi.org/10.1016/j.ejrad.2021.109802DOI Listing
May 2021

Stretchable, Self-Healing, and Skin-Mounted Active Sensor for Multipoint Muscle Function Assessment.

ACS Nano 2021 Jun 4. Epub 2021 Jun 4.

CAS Center for Excellence in Nanoscience, Beijing Key Laboratory of Micro-nano Energy and Sensor, Beijing Institute of Nanoenergy and Nanosystems, Chinese Academy of Sciences, Beijing 101400, China.

Assessment of muscle function is an essential indicator for estimating elderly health, evaluating motor function, and instructing rehabilitation training, which also sets urgent requirements for mechanical sensors with superior quantification, accuracy, and reliability. To overcome the rigidity and vulnerability of traditional metallic electrodes, we synthesize an ionic hydrogel with large deformation tolerance and fast self-healing ability. And we propose a stretchable, self-healing, and skin-mounted (Triple S) active sensor (TSAS) based on the principles of electrostatic induction and electrostatic coupling. The skin modulus-matched TSAS provides outstanding sensing properties: maximum output voltage of 78.44 V, minimal detection limit of 0.2 mN, fast response time of 1.03 ms, high signal-to-noise ratio and excellent long-term service stability. In training of arm muscle, the functional signals of biceps and triceps brachii muscles as well as the joint dexterity of bending angle can be acquired simultaneously through TSAS. The signal can also be sent wirelessly to a terminal for analysis. With the characteristics of high sensitivity, reliability, convenience, and low-cost, TSAS shows its potential to be the next-generation procedure for real-time assessment of muscle function and rehabilitation training.
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http://dx.doi.org/10.1021/acsnano.1c02010DOI Listing
June 2021

ICTV Virus Taxonomy Profile: .

J Gen Virol 2021 Jun;102(6)

Archaeal Virology Unit, Institut Pasteur, 75015 Paris, France.

is a family of viruses with circular, double-stranded DNA genomes of about 20 kbp. Their icosahedral virions have a diameter of 87 nm, and consist of an outer protein shell, an inner lipid layer and a nucleoprotein core wound up into a spherical coil. Portogloboviruses infect hyperthermophilic archaea of the genus , order Sulfolobales and are presumably nonlytic. Portogloboviruses encode mini-CRISPR arrays which they use to compete against other co-infecting viruses. This is a summary of the International Committee on Taxonomy of Viruses (ICTV) Report on the family , which is available at ictv.global/report/portogloboviridae.
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http://dx.doi.org/10.1099/jgv.0.001605DOI Listing
June 2021

Segmental maternal uniparental disomy of chromosome 7q in a patient with congenital chloride diarrhea.

J Clin Lab Anal 2021 Jun 4:e23862. Epub 2021 Jun 4.

Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, China.

Background: The main symptoms of congenital chloride diarrhea (CCD) main symptoms are watery diarrhea, hypochloremia, and hypokalemic metabolic alkalosis. Silver-Russell syndrome (SRS) is a heterogeneous imprinting disorder characterized by severe intrauterine retardation, poor postnatal growth, and facial dysmorphism.

Methods: Parent-offspring trio whole-exome sequencing was used to identify the causal variants. Sequencing reads were mapped to the reference of human genome version hg19. Sanger sequencing was performed as a confirmatory experiment.

Results: The proband was a patient with SRS caused by maternal uniparental disomy 7. The CCD of the proband was caused by homozygous variant c.1515-1 (IVS13) G>A; both mutated alleles were inherited from her mother.

Conclusion: We report the first clinical case of CCD and SRS occurring together. Patients with milder phenotypes may be difficult to diagnose in early stage, but close monitoring of potential complications is important for identification.
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http://dx.doi.org/10.1002/jcla.23862DOI Listing
June 2021