Publications by authors named "Huijun Wang"

427 Publications

Multiple facial papules in a middle-aged man.

Indian J Dermatol Venereol Leprol 2021 Apr 23:1-3. Epub 2021 Apr 23.

Department of Dermatology, Peking University First Hospital, Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, National Clinical Research Center for Skin and Immune Diseases, Beijing, China.

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http://dx.doi.org/10.25259/IJDVL_476_20DOI Listing
April 2021

Application of Full-Spectrum Rapid Clinical Genome Sequencing Improves Diagnostic Rate and Clinical Outcomes in Critically Ill Infants in the China Neonatal Genomes Project.

Crit Care Med 2021 May 3. Epub 2021 May 3.

Center for Molecular Medicine, Children's Hospital of Fudan University, Shanghai, China. Key Laboratory of Neonatal Diseases, Ministry of Health, Children's Hospital of Fudan University, Shanghai, China. Department of Neonatology, Children's Hospital Affiliated to Zhengzhou University, Zhengzhou, China. Department of Pediatrics, Xiamen Children's Hospital, Xiamen, China. Department of Neonatology, Jiangxi Provincial Children's Hospital, Nanchang, China. Department of Neonatology, People's Hospital of Xinjiang Uygur Autonomous Region, Urumqi 830001, China. Department of Neonatology, Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Nanning, China. Department of Pediatrics, Peking University First Hospital, Beijing, China. Department of Neonatology, Kunming Children's Hospital, Kunming, China. Department of Neonatal Center, Children's Hospital of Nanjing Medical University, Nanjing, China. Department of Neonatology, Guangzhou Women and Children's Medical Center, Guangzhou, China. Department of Neonatology, Shenzhen Longhua People's Hospital, Guangdong, China. Department of Neonatology, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai, China. Department of Genetics, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, China. Department of Neonatology, Children's Hospital of Fudan University, Shanghai, China. Pediatric intensive care unit, Children's Hospital of Fudan University, Shanghai, China.

Objectives: To determine the diagnostic and clinical utility of trio-rapid genome sequencing in critically ill infants.

Design: In this prospective study, samples from critically ill infants were analyzed using both proband-only clinical exome sequencing and trio-rapid genome sequencing (proband and biological parents). The study occurred between April 2019 and December 2019.

Setting: Thirteen member hospitals of the China Neonatal Genomes Project spanning 10 provinces were involved.

Participants: Critically ill infants (n = 202), from birth up until 13 months of life were enrolled based on eligibility criteria (e.g., CNS anomaly, complex congenital heart disease, evidence of metabolic disease, recurrent severe infection, suspected immune deficiency, and multiple malformations).

Interventions: None.

Measurements And Main Results: Of the 202 participants, neuromuscular (45%), respiratory (22%), and immunologic/infectious (18%) were the most commonly observed phenotypes. The diagnostic yield of trio-rapid genome sequencing was higher than that of proband-only clinical exome sequencing (36.6% [95% CI, 30.1-43.7%] vs 20.3% [95% CI, 15.1-26.6%], respectively; p = 0.0004), and the average turnaround time for trio-rapid genome sequencing (median: 7 d) was faster than that of proband-only clinical exome sequencing (median: 20 d) (p < 2.2 × 10-16). The metagenomic analysis identified pathogenic or likely pathogenic microbes in six infants with symptoms of sepsis, and these results guided the antibiotic treatment strategy. Sixteen infants (21.6%) experienced a change in clinical management following trio-rapid genome sequencing diagnosis, and 24 infants (32.4%) were referred to a new subspecialist.

Conclusions: Trio-rapid genome sequencing provided higher diagnostic yield in a shorter period of time in this cohort of critically ill infants compared with proband-only clinical exome sequencing. Precise and fast molecular diagnosis can alter medical management and positively impact patient outcomes.
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http://dx.doi.org/10.1097/CCM.0000000000005052DOI Listing
May 2021

Twenty-Five-Year Trends in Dietary Patterns among Chinese Adults from 1991 to 2015.

Nutrients 2021 Apr 16;13(4). Epub 2021 Apr 16.

Department of Public Nutrition, National Institute for Nutrition and Health, Chinese Center for Disease Control and Prevention, Beijing 100050, China.

Poor dietary habits have been shown to be associated with a range of chronic diseases and can potentially be a major contributor to non-communicable diseases (NCDs) mortality. We therefore aimed to identify the prevailing dietary patterns among Chinese adults and to evaluate trends in dietary patterns from 1991 to 2015. We used data collected in the China Health and Nutrition Survey (CHNS). Dietary patterns were identified using factor analysis of data from three consecutive 24 h dietary recalls. We studied 29,238 adults aged 18 and above with complete demo-graphic and dietary data. Three distinct dietary patterns were identified: southern (high intakes of rice, vegetables, and pork), modern (high intakes of fruits, dairy products, cakes, cookies, and pastries), and meat (high intakes of organ meats, poultry, and other livestock meat). The southern pattern score decreased (mean ± SD scores in 1991: 0.11 ± 1.13; scores in 2015: -0.22 ± 0.93). The modern pattern score (mean ± SD scores in 1991: -0.44 ± 0.59; scores in 2015: 0.21 ± 1.01) and meat pattern score (mean ± SD scores in 1991: -0.18 ± 0.98; scores in 2015: 0.27 ± 0.91) increased. We observed that China has experienced a shift from traditional dietary patterns to western dietary patterns.
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http://dx.doi.org/10.3390/nu13041327DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8072541PMC
April 2021

Diet-Cognition Associations Differ in Mild Cognitive Impairment Subtypes.

Nutrients 2021 Apr 17;13(4). Epub 2021 Apr 17.

National Institute for Nutrition and Health, Chinese Center for Disease Control and Prevention, 29 Nanwei Road, Beijing 100050, China.

Cognitive function is not generally associated with diet, and there is debate over that association. Moreover, little is known about such associations with the specific cognitive domains and subtypes of mild cognitive impairment (MCI). We analyzed data of 4309 Chinese adults aged 55 and over from the Community-based Cohort Study on Nervous System Diseases from 2018-2019. Dietary habits were assessed at inclusion using a validated semi-quantitative food frequency questionnaire. Cognitive function of the participants was measured by using the Montreal Cognitive Assessment. Analyses were performed using multiple logistic regression and quantile regression with adjustment for socio-demographic, lifestyle, and health-related factors. Compared with normal cognition participants, those with a worse cognition state were characterized as being an older age and lower economic level. After adjustment for potential factors, participants with higher consumption of rice, legumes, fresh vegetables, fresh fruit, pork, poultry, fish, and nuts tended to have higher scores of global cognitive function and domains, and to have lower odds of MCI, while those with higher consumption levels of wheat and eggs had worse cognition, compared with the corresponding bottom consumption level of each food. Participants with a medium consumption level of beef or mutton had 57% (OR: 1.57, 95%CI: 1.07-2.32) higher odds of aMCI-SD, whereas they had 50% (OR: 0.50, 95%CI: 0.34-0.73) lower odds of naMCI-MD. Similarly, the highest consumption level of dairy was positively associated with the odds of aMCI-SD (OR:1.51, 95%CI:1.00-2.29), but inversely linked to the odds of naMCI-SD (OR: 0.60, 95%CI: 0.38-0.93) and naMCI-MD (OR: 0.49, 95%CI: 0.29-0.82). Most diet global cognitive benefits were observed to be associated with the preexisting higher consumption of rice, legumes, fresh vegetables, fresh fruit, meat, and nuts. In addition, the heterogeneity of associations between the consumption of certain foods and MCI subtypes was observed among Chinese adults aged over 55 years. These cross-sectional observations require validation in prospective studies.
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http://dx.doi.org/10.3390/nu13041341DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8073801PMC
April 2021

Recessive LOXHD1 variants cause a prelingual down-sloping hearing loss: genotype-phenotype correlation and three additional children with novel variants.

Int J Pediatr Otorhinolaryngol 2021 Apr 20;145:110715. Epub 2021 Apr 20.

Department of Otolaryngology-Head and Neck Surgery, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China. Electronic address:

Background: Biallelic mutations in LOXHD1 have been identified as the cause of DFNB77 (deafness, autosomal recessive 77). It is a new progressive, severe-to-profound, and late-onset nonsyndromic sensorineural hearing loss (NSHL), and is highly heterogeneous genetically and phenotypically. This study aimed to provide an additional three cases of DFNB77.

Methods: We presented three unrelated children diagnosed with prelingual mild-to-severe NSHL, and their audiograms showed mild hearing loss at 250 Hz before downsloping to a moderate-to-severe degree. Trio whole-exome sequencing (WES) was conducted to identify the pathogenic variants. Additionally, we reviewed the literature to further analyze the relationships between the genotype and audiology phenotype of LOXHD1.

Results: Six novel possible pathogenic LOXHD1 variants were identified, including three missense, one nonsense, and two splicing variants. The literature review showed that 68.5% of patients with DFNB77 onset before five years old; Most variants (62%) were associated with a down-sloping audiogram of mild-to-moderate hearing loss at low frequencies (200Hz, 500Hz), particularly variants in the protein domain of PLAT 9. We found that compared with homozygous LOXHD1 variants, individuals with heterozygous compound variants had a significantly milder phenotype, especially individuals carrying one missense and one splicing or bi-allelic missense variants (P < 0.05). Audiometric analysis at different ages showed that the hearing loss degree was aggravated at all frequencies by increasing age.

Conclusions: We report three children with prelingual NSHL carrying six novel LOXHD1 variants. Furthermore, our work indicates that DFNB77 may be milder than previously reported and recommends considering the genotype combination and mutation location of LOXHD1 and race-specificity in DFNB77 molecular diagnoses and management.
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http://dx.doi.org/10.1016/j.ijporl.2021.110715DOI Listing
April 2021

Narrowing the Genomic Region of Autosomal-Dominant Congenital Generalized Hypertrichosis Terminalis.

JAMA Dermatol 2021 Apr 21. Epub 2021 Apr 21.

Department of Dermatology, Peking University First Hospital, Beijing Key Laboratory of Molecular Diagnosis on Dermatoses and National Clinical Research Center for Skin and Immune Diseases, Beijing 100034, China.

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http://dx.doi.org/10.1001/jamadermatol.2021.0748DOI Listing
April 2021

Methamphetamine exposure induces neuronal programmed necrosis by activating the receptor-interacting protein kinase 3 -related signalling pathway.

FASEB J 2021 May;35(5):e21561

School of Forensic Medicine, Southern Medical University, Guangzhou, P.R. China.

Methamphetamine (METH) is a synthetic drug with severe neurotoxicity, however, the regulation of METH-induced neuronal programmed necrosis remains poorly understood. The aim of this study was to identify the molecular mechanisms of METH-induced neuronal programmed necrosis. We found that neuronal programmed necrosis occurred in the striatum of brain samples from human and mice that were exposed to METH. The receptor-interacting protein kinase 3 (RIP3) was highly expressed in the neurons of human and mice exposed to METH, and RIP3-silenced or RIP1-inhibited protected neurons developed neuronal programmed necrosis in vitro and in vivo following METH exposure. Moreover, the RIP1-RIP3 complex causes cell programmed necrosis by regulating mixed lineage kinase domain-like protein (MLKL)-mediated cell membrane rupture and dynamin-related protein 1 (Drp1)-mediated mitochondrial fission. Together, these data indicate that RIP3 plays an indispensable role in the mechanism of METH-induced neuronal programmed necrosis, which may represent a potential therapeutic target for METH-induced neurotoxicity.
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http://dx.doi.org/10.1096/fj.202100188RDOI Listing
May 2021

Hepatic encephalopathy induced by Lenvatinib and anti-PD-1 mAb in a patient with advanced hepatocellular carcinoma: A case report.

Mol Clin Oncol 2021 Jun 1;14(6):110. Epub 2021 Apr 1.

Department of Gastroenterology Oncology, Shandong Cancer Hospital and Institute, Shandong First Medical University and Shandong Academy of Medical Sciences, Jinan, Shandong 250117, P.R. China.

Previous studies have reported that the combinational therapy of Lenvatinib and anti-programmed cell death-1 (PD-1) monoclonal antibody (mAb) produced a longer overall survival in patients with hepatocellular carcinoma (HCC). The current case report presented a a patient with HCC who had hepatic encephalopathy (HE) following treatment with Lenvatinib and anti-PD-1 mAb. The 42-year-old patient was diagnosed with stage IVa HCC accompanied with cirrhosis and Child-Pugh C. Computed tomography (CT) imaging revealed collateral circulation of the portal vein, causing significant varicose veins in the gastric fundus, mesenteric varices and colon edema. The patient was administered 12 mg Lenvatinib once daily combined with 240 mg anti-PD-1 mAb. After 3 days of treatment, he presented with a disorder of psychoneurosis and blood ammonia (248 µg/dl; normal levels, 40-80 µg/dl). A cranial CT scan exhibited no significant abnormalities. The patient rapidly progressed from grade 1 to grade 3 HE. Lenvatinib treatment was discontinued. After admission to the intensive care unit, the patient's blood ammonia level dropped to 132 µg/dl, after which he was discharged. It was concluded that the portal vein collateral circulation in the patient with HCC may have caused HE development whilst receiving Lenvatinib and anti-PD-1 mAb combinational therapy.
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http://dx.doi.org/10.3892/mco.2021.2272DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8042534PMC
June 2021

New deep eutectic solvent based superparamagnetic nanofluid for determination of perfluoroalkyl substances in edible oils.

Talanta 2021 Jun 17;228:122214. Epub 2021 Feb 17.

Beijing Advanced Innovation Center for Food Nutrition and Human Health, Beijing Technology and Business University, Beijing, 100048, China. Electronic address:

Perfluoroalkyl substances (PFASs) have been identified as global pollutants and raise considerable food safety concerns. However, the development of an analytical method with satisfied pretreatment performance for PFASs with varying alkyl chain length in the fatty samples remains a challenge. We describe herein the preparation of superparamagnetic nanofluid, based on a new choline chloride/1-(o-tolyl)biguanide deep eutectic solvent (DES) system, for direct extraction of perfluoroalkyl carboxylic acids from edible oils. Target PFASs, especially the short-chain one, all possessed high recoveries (90-109% with intra-day and inter-day precision below 10%). This was achieved by adjusting the constituent ratio of DES for balancing the anion-exchange (electrostatic) interactions and hydrogen-bond interactions. Employing the prepared nanofluid in magnetic microextraction, followed by high-resolution mass spectrum analysis, resulted in a rapid (15 min for pretreatment), simple, sensitive (detection limit: 0.3-1.6 pg g), and efficient method for the enrichment and determination of trace PFASs. Furthermore, the introducing of N-H⋯F weak force increased the pretreatment selectivity to effectively reduce the matrix effect. At the end of the study, the proposed methodology was successfully applied to the analysis of target analytes in real samples.
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http://dx.doi.org/10.1016/j.talanta.2021.122214DOI Listing
June 2021

VEXAS syndrome in myelodysplastic syndrome with autoimmune disorder.

Exp Hematol Oncol 2021 Mar 19;10(1):23. Epub 2021 Mar 19.

State Key Laboratory of Experimental Haematology, Institute of Haematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin, China.

VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a newly-described adult-onset inflammatory syndrome characterized by vacuoles in myeloid and erythroid precursor cells and somatic mutations affecting methionine-41 (p.Met41) in UBA1. The VEXAS syndrome often overlaps with myelodysplastic syndromes (MDS) with autoimmune disorders (AD). By screening the UBA1 gene sequences derived from MDS patients with AD from our center, we identified one patient with a p.Met41Leu missense mutation in UBA1, who should have been diagnosed as MDS comorbid with VEXAS syndrome. This patient respond poorly to immune suppressive drugs. Patients with MDS and AD who have characteristic vacuoles in myeloid and erythroid precursor cells should be screened for UBA1 mutation, these patients are likely to have VEXAS syndrome and unlikely to improve with immunosuppressive drugs and should be considered for other alternative therapies.
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http://dx.doi.org/10.1186/s40164-021-00217-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7976711PMC
March 2021

Untargeted metabolomics coupled with chemometrics approach for Xinyang Maojian green tea with cultivar, elevation and processing variations.

Food Chem 2021 Aug 23;352:129359. Epub 2021 Feb 23.

Henan Key Laboratory of Tea Plant Comprehensive Utilization in South Henan, Xinyang Agriculture and Forestry University, Xinyang, Henan 464000, China. Electronic address:

The quality and flavor of green tea can be affected by various factors, which are closely related to the metabolite composition of tea. In this study, 66 Xinyang Maojian tea (XYMJ) samples produced by four cultivars, grown in different elevations and manufactured by different processing methods were analyzed by untargeted ultra-performance liquid chromatography-quadrupole time-of-flight mass spectrometry and chemometrics. 1912 ion features were detected and 95 metabolites were identified tentatively through a customized in-house library. Projection to latent structures discriminate analysis showed high capability to explain the cultivar variation. 54 metabolites were found to be responsible for the differentiation of the four cultivars. 27 metabolites including epigallocatechin gallate, epicatechin gallate, theanine, theogallin showed close correlation with elevation, resulting enhanced umami flavor of the high elevation tea. The differences between manual and mechanical tea were not significant. This comprehensive study is of great reference value for other types of tea.
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http://dx.doi.org/10.1016/j.foodchem.2021.129359DOI Listing
August 2021

Adsorption of Volatile Organic Compounds (VOCs) on Oxygen-rich Porous Carbon Materials Obtained from Glucose/Potassium Oxalate.

Chem Asian J 2021 May 30;16(9):1118-1129. Epub 2021 Mar 30.

School of Energy Science and Engineering, Central South University, Changsha Hunan, 410083, P. R. China.

To investigate the effects of oxygen-containing functional groups on the adsorption of volatile organic compounds (VOCs) with different polarity, oxygen-rich porous carbon materials (OPCs) were synthesized by heat treatment of glucose/potassium oxalate material. The carbon material had a large specific surface area (1697 m  g ) and a high oxygen content (18.95 at.%). OPC exhibited high adsorption capacity of toluene (309 mg g ) and methanol (447 mg g ). The specific surface area and total pore volume determined the adsorption capacity of toluene and methanol at the high-pressure range, while the oxygen-containing groups became the main factor affecting the methanol adsorption at the low-pressure range due to the hydrogen bond interaction through the density functional theory (DFT) calculations. This study provides an important hint for developing a novel O-doped adsorbent for the VOCs adsorption applications and analyzing the role of oxygen-containing groups in the VOCs adsorption under the low-pressure range.
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http://dx.doi.org/10.1002/asia.202100098DOI Listing
May 2021

Circular RNA in tumor metastasis.

Mol Ther Nucleic Acids 2021 Mar 4;23:1243-1257. Epub 2021 Feb 4.

Department of Laboratory Medicine, Nanhai Hospital, Southern Medical University, Foshan 510000, Guangdong Province, China.

Circular RNAs (circRNAs) are a type of endogenous non-coding RNA that were discovered to regulate gene expression through multiple pathways. Metastasis remains one of the biggest obstacles in cancer treatment. In this review, we focus on circRNAs involved in cancer tumorigenesis and metastasis. We present recently identified tumor-related circRNAs and discuss their functioning in tumor progression and metastasis. These circRNAs are categorized into different functional mechanisms, including microRNA (miRNA) sponging, protein binding, regulation of host genes, translation of circRNAs, and exosomal circRNAs. Additionally, the indirect functions of circRNAs that regulate epithelial-mesenchymal transition and autophagy are also discussed.
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http://dx.doi.org/10.1016/j.omtn.2021.01.032DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7907675PMC
March 2021

Association of Time-of-Day Energy Intake Patterns with Nutrient Intakes, Diet Quality, and Insulin Resistance.

Nutrients 2021 Feb 25;13(3). Epub 2021 Feb 25.

Department of Public Nutrition and Policy Standard, National Institute for Nutrition and Health, Chinese Center for Disease Control and Prevention, Beijing 100050, China.

Evidence shows time-of-day of energy intake are associated with health outcomes; however, studies of time-of-day energy patterns and their health implication are still lacking in the Asian population. This study aims to examine the time-of-day energy intake pattern of Chinese adults and to examine its associations with nutrient intakes, diet quality, and insulin resistance. Dietary data from three 24-h recalls collected during the 2015 China Health and Nutrition Survey (CHNS) were analyzed ( = 8726, aged ≥ 18 years). Time-of-day energy intake patterns were determined by latent class analysis (LCA). General Linear Models and Multilevel Mixed-effects Logistic Regression Models were applied to investigate the associations between latent time-of-day energy intake patterns, energy-adjusted nutrient intakes, diet quality score, and insulin resistance. Three time-of-day energy intake patterns were identified. Participants in the "Evening dominant pattern" were younger, had higher proportions of alcohol drinkers and current smokers. The "Evening dominant pattern" was associated with higher daily energy intake and a higher percentage of energy from fat (%) ( < 0.001), as well as higher insulin resistance risk (OR = 1.21; 95% CI: 1.05, 1.40), after adjusting for multivariate covariates. The highest diet quality score was observed in participants with "Noon dominant pattern" ( < 0.001). A higher proportion of energy in the later of the day was associated with insulin resistance in free-living individuals.
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http://dx.doi.org/10.3390/nu13030725DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7996289PMC
February 2021

Auer rods in mixed phenotype acute leukemia, T/myeloid: A report of three cases.

Leuk Res Rep 2021 9;15:100236. Epub 2021 Feb 9.

State Key Laboratory of Experimental Hematology and National Clinical Research Center for Blood Diseases, Institute of Hematology and Blood Disease Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Tianjin, China.

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http://dx.doi.org/10.1016/j.lrr.2021.100236DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7902533PMC
February 2021

SYBR Green real-time qPCR method: Diagnose drowning more rapidly and accurately.

Forensic Sci Int 2021 Apr 11;321:110720. Epub 2021 Feb 11.

School of Forensic Medicine, Southern Medical University, Guangzhou 510515, China; Guangzhou Forensic Science Institute, Guangdong Province Key Laboratory of Forensic Genetics, Guangzhou 510030, China. Electronic address:

In the field of drowning research, the method of diatom morphology has been most applied to determine whether the cause of death is drowning. However, the characteristics of complex operation, high level of professional knowledge drive us to propose a new method. Here, based on the common phytoplankton in water(such as diatoms and Aeromonas), aiming at the rbcL, 23 S, NIES, rPOD, Hly and preprotoxin aerolysin gene, we designed 6 pairs of specific primers and applied SYBR Green real-time qPCR(RT-qPCR) method to detect phytoplankton in the Pearl River Basin of Guangdong Province, China, so as to achieve the purpose of diagnosing drowning. After the experimental verification of the corresponding algae species and the standard strains of bacteria, as well as the verification of tissue samples (lung, liver and kidney) of 56 cases( 40 drowning cases and 16 non-drowning cases), we found that these primers were of great accuracy and tedious laboratory work of diatom test was reduced. Based on the advantages of high throughput, short period and high sensitivity, this RT-qPCR method is expected to diagnose drowning more rapidly and accurately.
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http://dx.doi.org/10.1016/j.forsciint.2021.110720DOI Listing
April 2021

A novel 333 bp deletion of IL10RA in Chinese patients with neonatal-onset inflammatory bowel disease.

J Clin Immunol 2021 Feb 16. Epub 2021 Feb 16.

Center for Molecular Medicine of Children's Hospital of Fudan University, Institutes of Biomedical Sciences, Fudan University, Shanghai, China.

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http://dx.doi.org/10.1007/s10875-021-00973-0DOI Listing
February 2021

A large dose of methamphetamine inhibits drug‑evoked synaptic plasticity via ER stress in the hippocampus.

Mol Med Rep 2021 04 12;23(4). Epub 2021 Feb 12.

School of Forensic Medicine, Southern Medical University, Guangzhou, Guangdong 510515, P.R. China.

Drug addiction is a chronic and recurrent disease associated with learning and memory. Shaped by drug use and cues from the environment, drug memory serves a key role in drug‑seeking behaviour. Methamphetamine (MA), a globally abused drug, causes cognitive impairment, and endoplasmic reticulum (ER) stress is one of the mechanisms via which this occurs. In the current study, it was hypothesized that ER stress may serve a role in the disturbance of drug memory. The present study demonstrated that 5 mg/kg MA inhibited conditioned place preference behaviour via ER stress, which caused a disruption in long‑term potentiation in the hippocampus. When mice were pre‑treated with the ER stress inhibitors 4‑phenyl butyric acid or tauroursodeoxycholic acid, drug‑evoked synaptic plasticity was induced. Western blotting results indicated that treatment with 5 mg/kg MA enhanced the expression of cyclin‑dependent kinase‑5 and decreased the expression of Ca/calmodulin‑dependent protein kinase II α via ER stress. Collectively, the present results suggested that a large dose of MA inhibited drug‑evoked synaptic plasticity and disrupted drug memory by inducing ER stress.
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http://dx.doi.org/10.3892/mmr.2021.11917DOI Listing
April 2021

Two cases of Chanarin-Dorfman syndrome with novel and recurrent mutations in the ABHD5 gene.

Int J Dermatol 2021 Feb 11. Epub 2021 Feb 11.

Department of Dermatology, Beijing Key Laboratory of Molecular Diagnosis on Dermatoses and National Clinical Research Center for Skin and Immune Diseases, Peking University First Hospital, Beijing, China.

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http://dx.doi.org/10.1111/ijd.15432DOI Listing
February 2021

[Association between sleep duration and mild cognitive impairment in people aged 55 and above in 4 provinces of China].

Wei Sheng Yan Jiu 2021 Jan;50(1):15-20

National Institute for Nutrition and Health, Chinese Center for Disease Control and Prevention, Beijing 100050, China.

Objective: To explore the association between sleep duration and mild cognitive impairment(MCI) in people aged 55 and above in 4 provinces of China.

Methods: A stratified multi-stage cluster random sampling method was adopted. From May to August 2018 in 32 survey districts and counties in 4 provinces of Hebei, Zhejiang, Shaanxi, and Hunan, 5334 55-year-old and older persons who met the inclusion criteria were randomly selected. Among them, there were 2362 males and 2972 females, with an average age of(67. 43±7. 48) years. A questionnaire survey was conducted to collect their basic information, lifestyle, disease history, sleep duration, etc. MCI were screened based on the Montreal cognitive assessment(MoCA). Multivariate Logistic regression was used to analyze the association between sleep duration and MCI.

Results: 16. 76% of them slept for less than 7. 0 hours, 19. 10% of the middle-aged and elderly people slept for 9 hours or more, and 36. 24% of them were found to be MCI. After adjusted the area, age, gender, education level, work status, family monthly income per capita, smoking, drinking, physical activity, meditation time, depression, hypertension, diabetes, myocardial infarction and stroke, the result of multivariate Logistic regression analysis shown that, compared with 7. 0-7. 9 hours of sleep, the risk of MCI among middle-aged and elderly people over 55 years old with <6. 0 hours and 8. 0-8. 9 hours of sleep were 1. 417 times(95%CI 1. 012-1. 984)and 1. 191 times(95%CI 1. 001-1. 418)of the former, respectively, and the differences were statistically significant(P<0. 05). The risk of men suffering from MCI for sleep duration <6. 0 hours was 2. 083 times(95%CI 1. 145-3. 789)that of the former, and the risk of women suffering from MCI for sleep duration ≥ 9. 0 hours was 1. 741 times(95%CI 1. 301-2. 331)that of MCI. The differences are statistically significant(P<0. 05).

Conclusion: Shorter or longer sleep time is an important factor independently related to MCI. Insufficient sleep in men and longer sleep time in women can increase the risk of MCI.
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http://dx.doi.org/10.19813/j.cnki.weishengyanjiu.2021.01.004DOI Listing
January 2021

[Association between mild cognitive impairment and serum uric acid levels among people aged 55 and above in 4 provinces of China].

Wei Sheng Yan Jiu 2021 Jan;50(1):8-14

National Institute for Nutrition and Health, Chinese Center for Disease Control and Prevention, Beijing 100050, China.

Objective: To explore the association between mild cognitive impairment and hyperuricemia among people aged 55 and above.

Methods: Based on the baseline survey data of "community cohort study on neurological diseases" from 2018 to 2019, 4272 residents aged 55 and above with complete data of individual socioeconomic status, lifestyle, mild cognitive impairment and serum uric acid level were selected as the research objects. The Montreal cognitive assessment(MoCA) was used to evaluate the mild cognitive impairment of the research objects. The relationship between serum uric acid level and MoCA score was analyzed. Multivariate Logistic regression model was used to analyze the association of serum uric acid level and mild cognitive impairment.

Results: The prevalence of cognitive impairment in the normal and high serum uric acid groups were 38. 6% and 38. 4%, respectively. In the normal serum uric acid level group, the serum uric acid level of the non-cognitive impairment group was significantly higher(291. 4 μmol/L)than that of the cognitive impairment group(283. 7 μmol/L)(F=16. 12, P<0. 05), and the MoCA score of the subjects in this group was significantly positively correlated with the serum uric acid level(r=0. 103, P<0. 05). In the hyperuricemia group, no significant difference was found in serum uric acid level between non-cognitive impairment group(450. 9 μmol/L) and cognitive impairment group(442. 4 μmol/L)(F=2. 44, P>0. 05), and there was no correlation between MoCA score and serum uric acid level(r=0. 064, P>0. 05). Logistic regression analysis showed that hyperuricemia was not a risk factor for cognitive impairment in people aged 55 and above(OR=1. 04, 95% CI 0. 87-1. 25, P=0. 630).

Conclusion: Within the normal range of serum uric acid, appropriate increase of serum uric acid may play a protective role in cognitive impairment. Hyperuricemia has not been found to increase the risk of cognitive impairment in people 55 years and older.
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http://dx.doi.org/10.19813/j.cnki.weishengyanjiu.2021.01.003DOI Listing
January 2021

Diagnostic and clinical utility of next-generation sequencing in children born with multiple congenital anomalies in the China neonatal genomes project.

Hum Mutat 2021 Apr 4;42(4):434-444. Epub 2021 Feb 4.

Department of Pneumology, Children's Hospital of Fudan University, Shanghai, China.

Multiple congenital anomalies (MCAs) at birth have emerged as an important cause of neonatal morbidity and mortality. This study aimed to investigate the genetic causes and characteristics of clinical outcomes in a large cohort of neonates with MCAs. Clinical exome sequencing/exome sequencing/genome sequencing were undertaken from December 1, 2016 to December 1, 2019 to detect single nucleotide variations (SNVs) and copy number variations (CNVs) simultaneously in individuals who met the inclusion criteria. A total of 588 neonates with MCAs were enrolled. One hundred sixty-one patients received diagnosis, with 71 CNVs and 90 SNVs detected, the overall diagnostic rate being 27.38%. Cardiovascular malformation was the most common anomaly (60%) and accounted for the top symptomatic proportion in both CNVs and SNVs. As the number of involved system increased from 2 to 3-4, and then to ≥5, the overall diagnostic rate increased gradually from 23.1% to 30.5%, and then to 52.2%, respectively. Patients who received genetic diagnoses were offered better clinical management or were referred to the specific disease clinic. In conclusion, this large cohort study demonstrates that both CNVs and SNVs contribute to the genetic causes of MCAs, and earlier genetic assertion may lead to better clinical management for patients.
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http://dx.doi.org/10.1002/humu.24170DOI Listing
April 2021

Complete IFN-γR1 Deficiency in a Boy Due to UPD(6)mat with IFNGR1 Novel Splicing Variant.

J Clin Immunol 2021 May 27;41(4):834-836. Epub 2021 Jan 27.

Center for Molecular Medicine, Pediatrics Research Institute, Children's Hospital of Fudan University, 399 Wanyuan Road, Shanghai, 201102, China.

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http://dx.doi.org/10.1007/s10875-021-00970-3DOI Listing
May 2021

Does geographical variation confound the relationship between host factors and the human gut microbiota: a population-based study in China.

BMJ Open 2020 11 19;10(11):e038163. Epub 2020 Nov 19.

National Institute for Nutrition and Health, Chinese Center for Disease Control and Prevention, Beijing, Beijing, China.

Objective: The human gut microbiota plays important roles in human health but is also known to be highly diverse between populations from different regions. Yet most studies inadequately account for this regional diversity in their analyses. This study examines the extent to which geographical variation can act as a confounding variable for studies that associate the microbiota with human phenotypic variation.

Design: Population-based study.

Setting: China.

Participants: 2164 participants from 15 province-level divisions in China.

Primary And Secondary Outcome Measures: We analysed the impact of geographic location on associations between the human gut microbiota and 72 host factors representing a wide variety of environmental-level, household-level and individual-level factors.

Results: While the gut microbiota varied across a wide range of host factors including urbanisation, occupation and dietary variables, the geographic region (province/megacity) of the participants explained the largest proportion of the variance (17.9%). The estimated effect sizes for other host factors varied substantially by region with little evidence of a reproducible signal across different areas as measured by permutational multivariate analysis of variance and random forest models.

Conclusions: Our results suggest that geographic variation is an essential factor that should be explicitly considered when generalising microbiota-based models to host phenotype across different populations.
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http://dx.doi.org/10.1136/bmjopen-2020-038163DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7678355PMC
November 2020

Long-term Outcomes of Juvenile Onset Recurrent Respiratory Papillomatosis with Pulmonary Involvement.

Laryngoscope 2021 Jan 7. Epub 2021 Jan 7.

Department of Otolaryngology Head and Neck Surgery. Beijing Tongren Hospital, Capital Medical University, Key Laboratory of Otolaryngology Head and Neck Surgery (Ministry of Education of China), Beijing, China.

Objective: To investigate the clinical characteristics and long-term outcomes of juvenile onset recurrent respiratory papillomatosis (JORRP) with or without pulmonary involvement.

Methods: A group of patients with JORRP who had clinical course over an extended period of time (at least 5 years) in the Department of Otolaryngology Head and Neck Surgery, Beijing Tongren Hospital were included in this retrospective study. Lung/bronchus involvement was revealed by lung imaging. Data on mortality rate, frequency of surgical interventions, and age of disease onset were collected and analyzed.

Results: The 192 patients (107 male and 85 female) included had a median [quartiles] age of JORRP onset of 2 [1, 4] years, and median follow-up duration of 10 [7, 13] years; 17 patients (8.9%) had papilloma with bronchial and pulmonary involvement 7.0 [4.0, 12.5] years after the onset of the disease. Compared to patients without lung involvement, patients with lung involvement had a younger age of disease onset (P = .001), higher frequency of surgical interventions (P < .001), higher mortality rate (OR = 94.909), and an increased risk of tracheotomy that could not be decannulated (P < .001). They also had a younger age of disease onset, and a higher frequency of surgical interventions and mortality compared to patients with tracheotomy but free from lung involvement (P < .001).

Conclusions: Children with JORRP and with pulmonary involvement have a higher average number of operations per year than those without pulmonary involvement, and pulmonary involvement indicates a higher incidence of tracheotomy that cannot be decannulated.

Level Of Evidence: 4. Laryngoscope, 2021.
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http://dx.doi.org/10.1002/lary.29376DOI Listing
January 2021

and mutations have unique distribution in T-cell large granular lymphocyte proliferations and advanced myeloid neoplasms.

Leuk Lymphoma 2021 Jan 7:1-9. Epub 2021 Jan 7.

MDS and MPN Center, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin, China.

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http://dx.doi.org/10.1080/10428194.2020.1869964DOI Listing
January 2021

Babao Dan improves neurocognitive function by inhibiting inflammation in clinical minimal hepatic encephalopathy.

Biomed Pharmacother 2021 Mar 28;135:111084. Epub 2020 Dec 28.

Shuguang Hospital, Key Laboratory of Liver and Kidney Diseases (Ministry of Education), Institute of Liver Diseases, Shanghai University of Traditional Chinese Medicine, Shanghai, 201203, China; Shanghai University of Traditional Chinese Medicine, Shanghai, 201203, China. Electronic address:

Background And Purpose: Inflammation has been considered a precipitating event that contributes to neurocognitive dysfunction in minimal hepatic encephalopathy (MHE). Inhibition TLR-4 related inflammation can effectively improve neurocognitive dysfunction of MHE. Our previous study showed that Babao Dan (BBD) effectively inhibited inflammation and ameliorated neurocognitive function in rats with acute hepatic encephalopathy (HE) and chronic HE. The mechanism may lie in the regulation of TLR4 signaling pathway. Therefore, this study aimed to evaluate the role of BBD in the treatment of MHE patients with cirrhosis and to elucidate the underlying mechanism by which BBD regulated TLR4 pathway to alleviate inflammation.

Methods: A randomized controlled trial (n = 62) was conducted to evaluate the clinical efficacy between BBD plus lactulose (n = 31) and lactulose alone (n = 31) in MHE patients by testing neurocognitive function (NCT-A and DST), blood ammonia, liver function (ALT, AST and TBIL) and blood inflammation (IL-1β, IL-6 and TNF-α). Afterward, we detected NO, inflammatory cytokines (IL-1β, IL-6 and TNF-α) and the phosphorylation of P65, JNK, ERK as well as P38 in LPS-activated rat primary bone marrow-derived macrophages (BMDMs), peritoneal macrophages (PMs), and mouse primary BMDMs/PMs/microglia/astrocytes, to investigate the underlying mechanism of BBD inhibiting inflammation through TLR4 pathway. Also, the survival rate of mice, liver function (ALT, AST), blood inflammation (IL-1β, IL-6 and TNF-α), inflammatory cytokines (IL-1β, IL-6 and TNF-α) and histopathological changes in the liver, brain and lung were measured to assess the anti-inflammatory effect of BBD on neurocognitive function in endotoxin shock/endotoxemia mice.

Results: BBD combined with lactulose significantly ameliorated neurocognitive function by decreasing NCT-A (p<0.001) and increasing DST (p<0.001); inhibited systemic inflammation by decreasing IL-1β (p<0.001), IL-6(p<0.001) and TNF-α (p<0.001); reduced ammonia level (p = 0.005), and improved liver function by decreasing ALT(p = 0.043), AST(p = 0.003) and TBIL (p = 0.026) in MHE patients. Furthermore, BBD inhibited gene and protein expression of IL-1β, IL-6 and TNF-α as well as NO in rat primary BMDMs/PMs, and mouse primary BMDMs/PMs/microglia/astrocytes in a dose-dependent manner. BBD inhibited the activation of mouse primary BMDMs/PMs/microglia/astrocytes by regulating TLR4 pathway involving the phosphorylation of P65, JNK, ERK and P38. Also, BBD reduced the mortality of mice with endotoxin shock/endotoxemia; serum levels of ALT, AST, IL-1β, IL-6 and TNF-α; gene expression of IL-1β, IL-6 and TNF-α in the liver, brain and lung, and tissue damage in the liver and lung.

Conclusion: Our study provided for the first time clinical and experimental evidence supporting the use of BBD in MHE, and revealed that BBD could play a crucial role in targeting and regulating TLR4 inflammatory pathway to improve neurocognitive function in MHE patients.
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http://dx.doi.org/10.1016/j.biopha.2020.111084DOI Listing
March 2021

A Combined Phytochemistry and Network Pharmacology Approach to Reveal the Effective Substances and Mechanisms of Wei-Fu-Chun Tablet in the Treatment of Precancerous Lesions of Gastric Cancer.

Front Pharmacol 2020 18;11:558471. Epub 2020 Nov 18.

Key Laboratory of Liver and Kidney Diseases (Ministry of Education), Institute of Liver Diseases, Shuguang Hospital, Shanghai University of Traditional Chinese Medicine, Shanghai, China.

Wei-Fu-Chun (WFC) tablet is a commercial medicinal product approved by China Food and Drug Administration, which is made of C.A.Mey., L., and (Benth.). WFC has been popularly used for the treatment of precancerous lesions of gastric cancer (PLGC) in clinical practice. In this study, a UHPLC-ESI-Q-TOF/MS method in both positive and negative ion mode was employed to rapidly survey the major constituents of WFC. 178 compounds including diterpenoids, triterpenes, sesquiterpenes, flavonoids, saponins, phenylpropanoids, lignans, coumarins, organic acids, fatty acids, quinones, and sterols, were identified by comparing their retention times, accurate mass within 5 ppm error, and MS fragmentation ions. In addition, 77 absorbed parent molecules and nine metabolites in rat serum were rapidly characterized by UHPLC-ESI-Q-TOF/MS. The network pharmacology method was used to predict the active components, corresponding therapeutic targets, and related pathways of WFC in the treatment of PLGC. Based on the main compounds in WFC and their metabolites in rat plasma and existing databases, 13 active components, 48 therapeutic targets, and 61 pathways were found to treat PLGC. The results of PLGC experiment in rats showed that WFC could improve the weight of PLGC rats and the histopathological changes of gastric mucosa partly by inhibiting Mitogen-activated protein kinase (MAPK) signaling pathway to increase pepsin secretion. This study offers an applicable approach to identify chemical components, absorbed compounds, and metabolic compounds in WFC, and provides a method to explore bioactive ingredients and action mechanisms of WFC.
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http://dx.doi.org/10.3389/fphar.2020.558471DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7768900PMC
November 2020

Systematic Review on International Salt Reduction Policy in Restaurants.

Int J Environ Res Public Health 2020 12 21;17(24). Epub 2020 Dec 21.

The George Institute for Global Health at Peking University Health Science Centre, Beijing 100600, China.

As the catering sector has increasingly contributed to population-level salt intake, many countries have begun developing salt-reduction strategies for restaurants. This paper aims to provide an overview of global salt reduction policies in restaurants. Scientific papers and website materials were systematically searched from Web of Science, Science Direct, and PubMed, as well as official websites of government departments and organizations. A total of 78 full-text papers and grey literature works were included. From 58 countries and regions, 62 independent policies were identified, 27 of which were mandatory (3 with fines). The most common strategy was menu labeling, which was a component of 40 policies. Target setting ( = 23) and reformulation ( = 13) of dishes were also widely implemented. Other salt-reduction strategies included education campaign, chef training, toolkits delivery, table salt removal, media campaign, and government assistance such as free nutrition analysis and toolkits distribution. Most policies focused on chain restaurants. Evaluations of these policies were limited and showed inconsistent results, and more time is needed to demonstrate the clear long-term effects. Attention has been paid to salt reduction in restaurants around the world but is still at its early stage. The feasibility and effectiveness of the strategies need to be further explored.
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http://dx.doi.org/10.3390/ijerph17249570DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7767386PMC
December 2020

Gut Microbiota and Host Plasma Metabolites in Association with Blood Pressure in Chinese Adults.

Hypertension 2021 Feb 21;77(2):706-717. Epub 2020 Dec 21.

From the Department of Nutrition (Y.W., M.C.B.T., K.A.M., P.G.-L.), University of North Carolina at Chapel Hill (UNC-Chapel Hill).

Animal studies have revealed gut microbial and metabolic pathways of blood pressure (BP) regulation, yet few epidemiological studies have collected microbiota and metabolomics data in the same individuals. In a population-based, Chinese cohort who did not report antihypertension medication use (30-69 years, 54% women), thus minimizing BP treatment effects, we examined multivariable-adjusted (eg, diet, physical activity, smoking, kidney function), cross-sectional associations between measures of gut microbiota (16S rRNA [ribosomal ribonucleic acid], N=1003), and plasma metabolome (liquid chromatography-mass spectrometry, N=434) with systolic (SBP, mean [SD]=126.0 [17.4] mm Hg) and diastolic BP (DBP [80.7 (10.7) mm Hg]). We found that the overall microbial community assessed by principal coordinate analysis varied by SBP and DBP (permutational multivariate ANOVA <0.05). To account for strong correlations across metabolites, we first examined metabolite patterns derived from principal component analysis and found that a lipid pattern was positively associated with SBP (linear regression coefficient [95% CI] per 1 SD pattern score: 2.23 [0.72-3.74] mm Hg) and DBP (1.72 [0.81-2.63] mm Hg). Among 1104 individual metabolites, 34 and 39 metabolites were positively associated with SBP and DBP (false discovery rate-adjusted linear model <0.05), respectively, including linoleate, palmitate, dihomolinolenate, 8 sphingomyelins, 4 acyl-carnitines, and 2 phosphatidylinositols. Subsequent pathway analysis showed that metabolic pathways of long-chain saturated acylcarnitine, phosphatidylinositol, and sphingomyelins were associated with SBP and DBP (false discovery rate-adjusted Fisher exact test <0.05). Our results suggest potential roles of microbiota and metabolites in BP regulation to be followed up in prospective and clinical studies.
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http://dx.doi.org/10.1161/HYPERTENSIONAHA.120.16154DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7856046PMC
February 2021