Publications by authors named "Yingchun Luo"

13 Publications

  • Page 1 of 1

Case Report: Novel Variants Cause Cornelia de Lange Syndrome in Chinese Patients.

Front Genet 2021 30;12:699894. Epub 2021 Jul 30.

Department of Medical Genetics, National Health Commission Key Laboratory of Birth Defects for Research and Prevention, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, China.

Cornelia de Lange syndrome (CdLS) is a genetic disorder characterized by multisystemic malformations. Mutation in the gene accounts for nearly 60% of the cases. This study reports the clinical and genetic findings of three cases of CdLS from unrelated Chinese families. Clinically, all the three cases were classified as classic CdLS based on the cardinal (distinctive facial features and limb malformations) and suggestive (developmental delay, growth retardation, microcephaly, hirsutism, etc.) manifestations. SNP array detected a novel heterozygous microdeletion of 0.2 Mb [arr[GRCh37]5p13.2(36848530_37052821) × 1] that spans the first 43 exons of in the fetus with nuchal translucency thickening in case 1. Whole-exome sequencing in family trios plus Sanger sequencing validation identified a heterozygous c.5566G>A (p.R1856G) mutation in the fetus with intrauterine growth retardation in case 2 and a novel heterozygous c.448dupA (p.S150Kfs23) mutation in the proband (an 8-month-old girl) in case 3. The cases presented in this study may serve as references for increasing our understanding of the mutation spectrum of in association with CdLS.
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July 2021

Prenatal case of Simpson-Golabi-Behmel syndrome with a de novo 370Kb-sized microdeletion of Xq26.2 compassing partial GPC3 gene and review.

Mol Genet Genomic Med 2021 Aug 22;9(8):e1750. Epub 2021 Jul 22.

Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan, China.

Background: Simpson-Golabi-Behmel syndrome type 1 (SGBS1) is a rare X-linked recessive disorder characterized by pre- and postnatal overgrowth and a broad spectrum of anomalies including craniofacial dysmorphism, heart defects, renal, and genital anomalies. Due to the ultrasound findings are not pathognomonic for this syndrome, most clinical diagnosis of SGBS1 are made postnatally.

Methods: A pregnant woman with abnormal prenatal sonographic findings was advised to perform molecular diagnosis. Single nucleotide polymorphism array (SNP array) was performed in the fetus, and the result was validated with multiplex ligation-dependent probe amplification (MLPA) and real-time quantitative PCR (qPCR).

Results: The prenatal sonographic presented with increased nuchal translucency at 13 gestational weeks, and later at 21 weeks with cleft lip and palate, heart defect, increased amniotic fluid index and over growth. A de novo 370Kb-deletion covering the 5'-UTR and exon 1 of GPC3 gene was detected in the fetus by SNP array, which was subsequently confirmed by MLPA and qPCR.

Conclusion: The de novo 370Kb hemizygous deletion of 5'-UTR and exon 1 of GPC3 results in the SGBS1 of this Chinese family. Combination of ultrasound and genetics tests helped us effectively to diagnose the prenatal cases of SGBS1. Our findings also enlarge the spectrum of mutations in GPC3 gene.
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August 2021

Evaluation of the sphericity index of the fetal heart during middle and late pregnancy using fetalHQ.

J Matern Fetal Neonatal Med 2021 Jun 23:1-6. Epub 2021 Jun 23.

Department of Ultrasound, The Maternal and Child Health Care Hospital of Hunan Province, Changsha, Hunan, China.

Objective: To explore the feasibility of the fetal heart quantitative technique (fetalHQ) for evaluating the sphericity index (SI) of the fetal heart during middle and late pregnancy.

Methods: Ninety-six normal fetuses in middle and late gestation who underwent systemic ultrasound examination in the Department of Ultrasound of the Maternal and Child Health Care Hospital of Hunan Province in November 2020 were enrolled, and dynamic images of the four-chamber view of the fetal heart were collected. The correlation between the global sphericity index (GSI), ventricular 24-segment SI, and gestational age (GA) was analyzed, and the differences between the left and right ventricular 24-segment SI were compared.

Results: The success rate of fetalHQ analysis was 93.75%. There was no significant linear correlation between GSI and ventricular 24-segment SI and GA (all s > .05). The differences in SI between segments 1 and 9 and 15 and 24 in the left and right ventricles were statistically significant (all s < .05), while the differences in SI between segments 10 and 14 were not statistically significant (all s > .05). In segments 1-9, the SI of the right ventricle was smaller than that of the left ventricle, indicating that the right ventricle was significantly more spherical than the left ventricle. In segments 15-24, the opposite was true.

Conclusion: FetalHQ is a simple and reliable method for evaluating the GSI and 24-segment SI of the left and right ventricles. It can provide some theoretical basis for the clinical quantitative evaluation of fetal heart geometry and lay a foundation for the quantitative evaluation of fetal heart function in cases of structural and functional abnormalities.
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June 2021

Gut microbiota dysbiosis promotes age-related atrial fibrillation by lipopolysaccharide and glucose-induced activation of NLRP3-inflammasome.

Cardiovasc Res 2021 Mar 23. Epub 2021 Mar 23.

Department of Cardiology, the First Affiliated Hospital of Harbin Medical University, Harbin, China.

Aims: Aging is the most significant contributor to the increasing prevalence of atrial fibrillation (AF). The gut microbiota dysbiosis is involved in age-related diseases. However, whether the aged-associated dysbiosis contributes to age-related AF is still unknown. Direct demonstration that the aged gut microbiota is sufficient to transmit the enhanced AF susceptibility in a young host via microbiota-intestinal barrier-atria axis has not yet been reported. This study aimed to determine whether gut microbiota dysbiosis affects age-related AF.

Methods And Results: Herein, by using a fecal microbiota transplantation (FMT) rat model, we demonstrated that the high AF susceptibility of aged rats could be transmitted to a young host. Specially, we found the dramatically increased levels of circulating lipopolysaccharide (LPS) and glucose led to the up-regulated expression of NLR family pyrin domain containing 3 (NLRP3)-inflammasome, promoting the development of AF which depended on the enhanced atrial fibrosis in recipient host. Inhibition of inflammasome by a potent and selective inhibitor of the NLRP3 inflammasome, MCC950, resulted in a lower atrial fibrosis and AF susceptibility. Then we conducted cross-sectional clinical studies to explore the effect of aging on the altering trends with glucose levels and circulating LPS among clinical individuals in two China hospitals. We found that both of serum LPS and glucose levels were progressively increased in elderly patients as compared with those young. Furthermore, the aging phenotype of circulating LPS and glucose levels, intestinal structure and atrial NLRP3-inflammasome of rats were also confirmed in clinical AF patients. Finally, aged rats colonized with youthful microbiota restored intestinal structure and atrial NLRP3-inflammasome activity, which suppressed the development of aged-related AF.

Conclusions: Collectively, these studies described a novel causal role of aberrant gut microbiota in the pathogenesis of age-related AF, which indicates that the microbiota-intestinal barrier-atrial NLRP3 inflammasome axis may be a rational molecular target for the treatment of aged-related arrhythmia disease.

Translational Perspective: The current study demonstrates that aged-associated microbiota dysbiosis promotes AF in part through a microbiota-gut-atria axis. Increased AF susceptibility due to enhanced atrial NLRP3-inflammasome activity by LPS and high glucose was found in an aged FMT rat model, and also confirmed within elderly clinical individuals. In a long-term FMT rat study, the AF susceptibility was ameliorated by treatment with youthful microbiota. The present findings can further increase our understanding of aged-related AF and address a promising therapeutic strategy that involves modulation of gut microbiota composition.
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March 2021

A case report of hydronephrosis caused by imperforate hymen in an infant.

Medicine (Baltimore) 2020 Nov;99(45):e23072

Department of Ultrasound, The Maternal and Child Health Care Hospital of Hunan Province.

Rationale: Hydronephrosis, mostly caused by ureteropelvic junction obstruction, rarely occurs in infants. However, imperforate hymen atresia in female infants may cause hydronephrosis, even though it is rare.

Patient Concerns: A 3-month-old female infant was admitted to our hospital for frequent crying. There was no significant past medical history.

Diagnoses: Following ultrasound imaging, the patient was diagnosed with hydronephrosis possibly caused by imperforate hymen.

Interventions: The infant underwent hymenotomy with a cruciate incision to prevent future complications such as acute renal injury.

Outcomes: Hydronephrosis resolved after the operation. The outcome was very good, with no complications in the postoperative period.

Conclusions: Early ultrasound diagnosis plays a significant role in the management and treatment of infant patients. Ultrasound is the mandatory imaging technology for determining the cause of hydronephrosis.
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November 2020

Trimethylamine N-Oxide is Associated with Heart Failure Risk in Patients with Preserved Ejection Fraction.

Lab Med 2021 Jul;52(4):346-351

Departments of Pharmacy and First Affiliated Hospital of Harbin Medical University, Harbin, China.

Background: Trimethylamine N-oxide (TMAO) has been considered to be an independent risk factor of heart failure (HF).

Objectives: To further determine the plasma levels of TMAO in patients who have HF with preserved ejection fraction (HFpEF), and to analyze the relationship between TMAO and HFpEF risk.

Methods: A total of 57 control participants and 61 patients with HFpEF were recruited. We measured and analyzed plasma levels of TMAO and performed biochemical examination of all patients.

Results: The mean (SD) plasma levels of TMAO in patients with HFpEF (6.84 [1.12] μmol/L) were significantly higher than in controls (1.63 [0.08] μmol/L; P <.01). The area under the curve (AUC) of TMAO and N-terminal pro b-type natriuretic peptide (NT-proBNP) was 0.817 and 0.924, respectively, which were determined by receiver operating characteristic (ROC) analysis. TMAO was an independent risk factor in patients with HFpEF, as revealed by univariate and multivariate logistic regression analysis. The level of TMAO was correlated with blood urea nitrogen (BUN), creatinine, and NT-proBNP.

Conclusions: TMAO level was highly associated with HFpEF risk.
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July 2021

NPF:network propagation for protein function prediction.

BMC Bioinformatics 2020 Aug 12;21(1):355. Epub 2020 Aug 12.

College of Computer Engineering and Applied Mathematics, Changsha University, Changsha, 410022, Hunan, China.

Background: The accurate annotation of protein functions is of great significance in elucidating the phenomena of life, treating disease and developing new medicines. Various methods have been developed to facilitate the prediction of these functions by combining protein interaction networks (PINs) with multi-omics data. However, it is still challenging to make full use of multiple biological to improve the performance of functions annotation.

Results: We presented NPF (Network Propagation for Functions prediction), an integrative protein function predicting framework assisted by network propagation and functional module detection, for discovering interacting partners with similar functions to target proteins. NPF leverages knowledge of the protein interaction network architecture and multi-omics data, such as domain annotation and protein complex information, to augment protein-protein functional similarity in a propagation manner. We have verified the great potential of NPF for accurately inferring protein functions. According to the comprehensive evaluation of NPF, it delivered a better performance than other competing methods in terms of leave-one-out cross-validation and ten-fold cross validation.

Conclusions: We demonstrated that network propagation, together with multi-omics data, can both discover more partners with similar function, and is unconstricted by the "small-world" feature of protein interaction networks. We conclude that the performance of function prediction depends greatly on whether we can extract and exploit proper functional information of similarity from protein correlations.
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August 2020

Digital image technology based on PCA and SVM for detection and recognition of foreign bodies in lyophilized powder.

Technol Health Care 2020 ;28(S1):197-205

College of Computer Engineering and Applied Mathematics, Changsha University, Changsha, Hunan, 410200, China.

Background: Digital image technology has made great progress in the field of foreign body detection and classification, which is of great help to drug purity extraction and impurity analysis and classification.

Objective: The detection and classification of foreign bodies in lyophilized powder are important. The method which can obtain a higher accuracy of recognition needs to be proposed.

Methods: We used digital image technology to detect and classify foreign bodies in lyophilized powder, and studied the process of image preprocessing, median filtering, Wiener filtering and average filtering balance to better detect and classify foreign bodies in lyophilized powder.

Results: Through industrial small sample data simulation, test results show that in the process of image preprocessing, 3 × 3 median filtering is best. In the aspect of foreign body recognition, the recognition based on principal component analysis (PCA) and support vector machine (SVM) algorithm and the recognition based on PCA and Third-Nearest Neighbor classification algorithm are compared and results show that the PCA+SVM algorithm is better.

Conclusion: We demonstrated that integrating PCA and SVM to classify foreign bodies in lyophilized powder. Our proposed method is effective for the prediction of essential proteins.
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April 2021

A novel method to predict essential proteins based on tensor and HITS algorithm.

Hum Genomics 2020 04 6;14(1):14. Epub 2020 Apr 6.

College of Computer Engineering and Applied Mathematics, Changsha University, Changsha, 410022, China.

Background: Essential proteins are an important part of the cell and closely related to the life activities of the cell. Hitherto, Protein-Protein Interaction (PPI) networks have been adopted by many computational methods to predict essential proteins. Most of the current approaches focus mainly on the topological structure of PPI networks. However, those methods relying solely on the PPI network have low detection accuracy for essential proteins. Therefore, it is necessary to integrate the PPI network with other biological information to identify essential proteins.

Results: In this paper, we proposed a novel random walk method for identifying essential proteins, called HEPT. A three-dimensional tensor is constructed first by combining the PPI network of Saccharomyces cerevisiae with multiple biological data such as gene ontology annotations and protein domains. Then, based on the newly constructed tensor, we extended the Hyperlink-Induced Topic Search (HITS) algorithm from a two-dimensional to a three-dimensional tensor model that can be utilized to infer essential proteins. Different from existing state-of-the-art methods, the importance of proteins and the types of interactions will both contribute to the essential protein prediction. To evaluate the performance of our newly proposed HEPT method, proteins are ranked in the descending order based on their ranking scores computed by our method and other competitive methods. After that, a certain number of the ranked proteins are selected as candidates for essential proteins. According to the list of known essential proteins, the number of true essential proteins is used to judge the performance of each method. Experimental results show that our method can achieve better prediction performance in comparison with other nine state-of-the-art methods in identifying essential proteins.

Conclusions: Through analysis and experimental results, it is obvious that HEPT can be used to effectively improve the prediction accuracy of essential proteins by the use of HITS algorithm and the combination of network topology with gene ontology annotations and protein domains, which provides a new insight into multi-data source fusion.
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April 2020

Study on the Potential Biomarkers of Maternal Urine Metabolomics for Fetus with Congenital Heart Diseases Based on Modified Gas Chromatograph-Mass Spectrometer.

Biomed Res Int 2019 6;2019:1905416. Epub 2019 May 6.

NHC Key Laboratory of Birth Defect for Research and Prevention (Hunan Provincial Maternal and Child Health Care Hospital), Hunan 410008, China.

Background: There has been significant research on the genetic and environmental factors of congenital heart defects (CHDs), but few causes of teratogenicity, especially teratogenic mechanisms, can be clearly identified. Metabolomics has a potential advantage in researching the relationship between external factors and CHD.

Objective: To find and identify the urinary potential biomarkers of pregnancy (including in the second and third trimesters) for fetuses with CHD based on modified gas chromatograph-mass spectrometer (GC-MS), which could reveal the possibility of high-risk factors for CHD and lay the foundation for early intervention, treatment, and prevention.

Methods: Using a case-control design, we measured the urinary potential biomarkers of maternal urine metabolomics based on GC-MS in a population-based sample of women whose infants were diagnosed with CHD (70 case subjects) or were healthy (70 control subjects). SIMCA-P 13.0 software, principal component analysis (PCA), orthogonal partial least squares-discriminant analysis (OPLS-DA), Wilcoxon-Mann-Whitney test, and logistics regression were used to find significant potential biomarkers.

Result: The 3D score graph of the OPLS-DA showed that the CHD and control groups were fully separated. The fitting parameters were Rx=0.78 and Ry=0.69, and the forecast rate was Q=0.61, indicating a high forecast ability. According to the ranking of VIPs from the OPLS-DA models, we found 34 potential metabolic markers with a VIP > 1, and after two pairwise rank sum tests, we found 20 significant potential biomarkers, which were further used in multifactor logistic regressions. Significant substances, including 4-hydroxybenzeneacetic acid (=4.74, 95% CI: 1.06-21.06), 5-trimethylsilyloxy-n-valeric acid (=15.78, 95% CI: 2.33-106.67), propanedioic acid (=5.37, 95% CI: 1.87-15.45), hydracrylic acid (=6.23, 95% CI: 1.07-36.21), and uric acid (=5.23, 95% CI: 1.23-22.32), were associated with CHD.

Conclusion: The major potential biomarkers in maternal urine associated with CHD were 4-hydroxybenzeneacetic acid, 5-trimethylsilyloxy-n-valeric acid, propanedioic acid, hydracrylic acid, and uric acid, respectively. These results indicated that the short chain fatty acids (SCFAs) and aromatic amino acid metabolism may be relevant with CHD.
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December 2019

Efficacy and safety of tofacitinib for the treatment of rheumatoid arthritis in patients from the Asia-Pacific region: Post-hoc analyses of pooled clinical study data.

Int J Rheum Dis 2019 Jun 22;22(6):1094-1106. Epub 2019 Mar 22.

University of Occupational and Environmental Health Japan, Kitakyushu, Japan.

Aim: We report tofacitinib efficacy and safety in Asia-Pacific patients who participated in the rheumatoid arthritis (RA) clinical development program.

Method: This post-hoc analysis included pooled data from patients with RA in the Asia-Pacific region treated with tofacitinib with/without conventional synthetic disease-modifying antirheumatic drugs in Phase (P)1, 2, 3, and long-term extension (LTE) studies (one LTE ongoing; January 2016 data-cut). Efficacy was assessed over 24 months in patients who received tofacitinib 5 (N = 397) or 10 (N = 382) mg twice daily or placebo (N = 243) in three P2 and five P3 studies. Endpoints included American College of Rheumatology (ACR)20/50/70 responses, Disease Activity Score in 28 joints, erythrocyte sedimentation rate (DAS28-4[ESR]) and Clinical Disease Activity Index (CDAI) remission rates, and change from baseline in Health Assessment Questionnaire-Disability Index (∆HAQ-DI). Safety data pooled over 92 months from one P1, four P2, six P3, and two LTE studies for all tofacitinib doses (N = 1464) included incidence rates (IRs) (patients with events/100 patient-years) for adverse events (AEs) of special interest.

Results: At month 3, patients receiving tofacitinib 5/10 mg twice daily improved vs placebo in ACR20 (69.2%/77.9% vs 27.5%), ACR50 (36.9%/44.4% vs 9.5%), and ACR70 (15.1%/22.4% vs 2.7%) responses, remission rates for DAS28-4(ESR) (8.5%/18.5% vs 2.6%) and CDAI (6.1%/12.3% vs 0.5%), and ∆HAQ-DI (-0.5/-0.6 vs -0.1); improvements were sustained through 24 months. IRs (95% CI) were 9.4 (8.5, 10.3) for serious AEs, 9.1 (8.3, 10.1) for discontinuations due to AEs, 3.7 (3.2, 4.3) for serious infections, 5.9 (5.2, 6.7) for herpes zoster, and 0.8 (0.6, 1.1) for malignancies (excluding non-melanoma skin cancer).

Conclusion: In Asia-Pacific patients, tofacitinib improved signs/symptoms over 24 months. Safety over 92 months was generally consistent with global tofacitinib studies; however, infection IRs were higher in Asia-Pacific patients.
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June 2019

[Prenatal diagnosis of monochorionic-diamniotic twins discordant for 45,X/46,XX mosaicism].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2019 Mar;36(3):260-262

Department of Medical Genetics, Maternal and Child Health Care Hospital of Hunan Province, Changsha, Hunan 410008, China.

Objective: To explore the prenatal screening and diagnosis for a pair of monochorionic-diamniotic (MCDA) twins discordant for 45,X/46,XX mosaicism.

Methods: Amniotic fluid samples were taken from both twins for whom non-invasive prenatal testing has signaled a high risk for sex chromosomal abnormality. Uncultured amniotic fluid was analyzed by fluorescence in situ hybridization (FISH) and single nucleotide polymorphism array (SNP-array). Conventional G-banded karyotyping analysis was performed on the cultured amniotic fluid.

Results: Metaphase chromosome analysis showed that one of the twins had a mos 45,X[11]/46,XX[26] karyotype, while the other had a normal karyotype. FISH and SNP-array applied on uncultured amniotic fluid revealed about 30% mosaicism in one of the twins. The twins were confirmed to be monozygotic by SNP-array analysis.

Conclusion: To avoid confusion arising from discordant karyotypes in MCDA twins with abnormal non-invasive prenatal testing (NIPT) results, dual amniocentesis should be carried out to obtain amniotic fluid samples for chromosomal as well as molecular analysis. To determine the ratio of 45,X and 46,XX cells in Turner syndrome can provide valuable information for prenatal genetic counseling.
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March 2019

Tofacitinib, an oral Janus kinase inhibitor, for the treatment of chronic plaque psoriasis: Long-term efficacy and safety results from 2 randomized phase-III studies and 1 open-label long-term extension study.

J Am Acad Dermatol 2016 May 19;74(5):841-50. Epub 2016 Feb 19.

Pfizer Inc, Groton, Connecticut. Electronic address:

Background: Tofacitinib is an oral Janus kinase inhibitor being investigated for psoriasis.

Objectives: We sought to report longer-term tofacitinib efficacy and safety in patients with moderate to severe psoriasis.

Methods: Data from 2 identical phase-III studies, Oral-treatment Psoriasis Trial Pivotal 1 and 2, were pooled with data from these patients in an ongoing open-label long-term extension study. Patients (n = 1861) were randomized 2:2:1 to tofacitinib 5 mg, 10 mg, or placebo twice daily (BID). At week 16, placebo patients were rerandomized to tofacitinib. Pivotal study participants could enroll into the long-term extension where they received tofacitinib at 10 mg BID for 3 months, after which dosing could be 5 or 10 mg BID.

Results: At week 28, the proportions of patients randomized to tofacitinib 5 and 10 mg BID achieving 75% or greater reduction in Psoriasis Area and Severity Index score from baseline were 55.6% and 68.8%, and achieving Physician Global Assessment of clear or almost clear were 54.7% and 65.9%. Efficacy was maintained in most patients through 24 months. Serious adverse events and discontinuations because of adverse events were reported in less than 11% of patients over 33 months of tofacitinib exposure.

Limitations: There was no dose comparison beyond week 52.

Conclusions: Oral tofacitinib demonstrated sustained efficacy in patients with psoriasis through 2 years, with 10 mg BID providing greater efficacy than 5 mg BID. No unexpected safety findings were observed.
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May 2016