ABSTRACT
Objective To compare the efficacy of common clinical interventions in the treatment of cervical high-risk (HR) HPV infection based on Bayesian network meta-analysis. Methods Randomized controlled trials (RCTs) about common clinical interventions for cervical HR-HPV infection were searched in PubMed, Web of Science, Embase, The Cochrane Library, CBM, CNKI, Wanfang Data, and VIP databases from inception to July 31, 2021 using specific inclusion and exclusion criteria. The quality of the included studies was evaluated in accordance with the Cochrane systematic review manual. Meta-analysis was performed with Stata16 and RevMan5.3 software. Results Seventy-three RCTs were included, involving 3642 patients and eight treatment methods. Network meta-analysis showed that in the three months after treatment, the negative conversion rate was in the order: PTL > anti-HPV BPD > ALA-PDT > Nr-CWS > BFKS > CSJZS > rhIFNα-2b > FUO. In the six months after treatment, the negative conversion rate was in the order: Nr-CWS > ALA-PDT > PTL > anti-HPV BPD > BFKS > rhIFNα-2b > FUO > CSJZS. In the nine months after treatment, the negative conversion rate was in the order: PTL > ALA-PDT > BFKS > anti-HPV BPD > rhIFNα-2b > FUO. IN the 12 months after treatment, the negative conversion rate was in the order: Nr-CWS > ALA-PDT > anti-HPV BPD > PTL > BFKS > rhIFNα-2b > FUO > CSJZS. Conclusion In terms of HPV negative conversion rate, Nr-CWS and PTL are more effective and currently ideal compared with the other treatments. Owing to the quality of the evidence, the above conclusions must be confirmed by future high-quality studies.
ABSTRACT
【Objective】 To retrospectively analyze the serological and nucleic acid testing(NAT) data of voluntary blood donors from six blood banks in Tibet, in order to explore the positive impact of NAT on reducing the risk of infective transfusion in a regional scope. 【Methods】 From 2018 to 2022, 38 718 voluntary blood donors from blood centers of Tibet, Shannan, Shigatse, Naqu, Nyingchi and Ngari were tested for hepatitis B virus surface antigen (HBsAg), hepatitis C virus antibody (anti-HCV), human immunodeficiency virus antigen (HIV) and antibody (Ag/Ab1+2) serological determination by enzyme-linked immunosorbent assay (ELISA). At the same time, Haoyuan and Daan nucleic acid detection systems were used for the combined detection of HBV-DNA, HCV-RNA and HIV-RNA. The results of NAT of reactive ELISA samples were statistically analyzed. 【Results】 A total of 178 ELISA-/NAT+ samples were detected in Tibet over the past five years, including 170 HBV-DNA positive cases, 8 HCV-RNA positive cases, and 0 HIV-RNA positive cases, with the positive rate at 0.460%.The detection rate of 624 ELISA+/NAT+ samples was 1.61%.The age of blood donors with hepatitis B in Shigatse area was slightly higher than that in other areas, and the difference was statistically significant(P<0.05) . 【Conclusion】 The centralized detection of viral nucleic acid in Blood Center of Tibet Autonomous Region can effectively reduce the missed detection of transfusion transmitted diseases and guarantee the blood safety in the region.
ABSTRACT
【Objective】 To explore the research status, hot spots and trends of platelet rich plasma (PRP). 【Methods】 With "platelet rich plasma (PRP)" and its Chinese equivalent as the subject words, the PRP related articles during January 1, 2013 to December 31, 2022 from PubMed and CNKI database were retrieved. The bibliometric analysis was performed by Bicomb 2.0 software to extract the annual number of literature publications, authors, journals and high-frequency theme words/sub theme words. The gCLUTO software was used to evaluate and visualize the results, and strategic diagram was drawn according to the results of biclustering. 【Results】 A total of 9 066 PRP related articles were retrieved (7 027 from PubMed, 2 039 from CNKI), and the number of publications showed an increasing trend year by year. Papers have been published in 1 527 journals in PubMed, among which the journal with the highest number of publications was Arthroscopy: Journal of Arthroscopic & Related Surgery (175 articles), followed by American Journal of Sports Medicine (171 articles ) and Journal of Cosmetic Dermatology (121 articles) . PRP-related studies were published in 541 journals in CNKI, with the top 3 journals as Chinese Tissue Engineering Research (113 articles), Chinese Aesthetic Medicine (64 articles) and Chinese Journal of Blood Transfasion (45 articles) . In Pubmed, Anitua Eduardo (84 articles), Filardo Giuseppe (53 articles) and Cole Brian J (44 articles) were the top three productive authors on PRP; Cheng Biao from the General Hospital of Southern Theater Command of Chinese PLA was the most productive Chinese author (25 articles) . Shan Guiqiu from the General Hospital of the Southern Theater Command of the Chinese People's Liberation Army published the most articles(29 articles) in CNKI. American journals published the most articles (2 745 articles ), accounting for 39.06% of the total articles, followed by British and Swiss journals, with 1 499 articles and 550 articles, respectively. A total of 42 high-frequency subject words/sub-subject words were selected from PubMed, and were classified into 6 roups, while 30 high-frequency subject words were selected from CNKI and grouped into 5 categories. The strategic coordinates show that the treatment of rotator cuff and tendon injury with PRP in PubMed, the study of PRP and tissue engineering materials in CNKI are the core themes of current PRP research. 【Conclusion】 The strategic coordinate map and bibliometrics can reveal the current research status of PRP and predict future research hotspots, but current research cores of PubMed and CNKI are not consistent, and further research is still needed.
ABSTRACT
Objective:To construct a training program to improve the psychological nursing ability of clinical nurses, so as to provide a strong guarantee for the clinical development of psychological nursing.Methods:By consulting the literature, related books and investigating the curriculum of nursing colleges, the first draft of the training program was drawn up. Four departments of Cardiovascular Medicine of the Second Xiangya Hospital of Central South University from May to August 2019 were recruited and 64 nurses were trained. After the training, the training program was revised again. After two rounds of training and modification, the second draft of the training program was formed, and then Delphi method was used to conduct two rounds of expert consultation on the second draft of the training program.Results:The positive coefficients of experts in the two rounds of consultation were 94.1% and 96.7% respectively, and the average authority coefficient of experts was 0.81. The final training contents included 5 first-class indexes, 18 second-class indexes and 45 third-class indexes. The coefficient of variation of each item of training contents was 0.06-0.23, and the coefficient of variation of training methods and training duration of each part was 0.06-0.17.Conclusions:The training program is scientific, reasonable, detailed and practical, which can provide guarantee for improving the psychological nursing ability of clinical nurses.
ABSTRACT
Inhibitor of nuclear factor kappa-B kinase subunit beta (IKKβ) is one of important kinases in inflammation to phosphorylate inhibitor of nuclear factor kappa-B (IκBα) and then activate nuclear factor kappa-B (NF-κB). Inhibition of IKKβ has been a therapeutic strategy for inflammatory and autoimmune diseases. Here we report that IKKβ is constitutively activated in healthy donors and healthy Ikkβ C46A (cysteine 46 mutated to alanine) knock-in mice although they possess intensive IKKβ-IκBα-NF-κB signaling activation. These indicate that IKKβ activation probably plays homeostatic role instead of causing inflammation. Compared to Ikkβ WT littermates, lipopolysaccharides (LPS) could induce high mortality rate in Ikkβ C46A mice which is correlated to breaking the homeostasis by intensively activating p-IκBα-NF-κB signaling and inhibiting phosphorylation of 5' adenosine monophosphate-activated protein kinase (p-AMPK) expression. We then demonstrated that IKKβ kinase domain (KD) phosphorylates AMPKα1 via interacting with residues Thr183, Ser184, and Thr388, while IKKβ helix-loop-helix motifs is essential to phosphorylate IκBα according to the previous reports. Kinase assay further demonstrated that IKKβ simultaneously catalyzes phosphorylation of AMPK and IκBα to mediate homeostasis. Accordingly, activation of AMPK rather than inhibition of IKKβ could substantially rescue LPS-induced mortality in Ikkβ C46A mice by rebuilding the homeostasis. We conclude that IKKβ activates AMPK to restrict inflammation and IKKβ mediates homeostatic function in inflammation via competitively phosphorylating AMPK and IκBα.
ABSTRACT
Objective:To investigate the effects of thioredoxin reductase 1(TR1) overexpression on hippocampus in ovariectomized SD rats.Methods:Totally 54 female SD rats were divided into normal group, ovariectomized group and ovariectomized over-expressioned TR1 group (ovariectomy-TR1 group) according to the random number table method with 18 in each group. The overexpressed TR1 vector was constructed by lentivirus, and the recombinant lentivirus was injected into the hippocampus by a brain stereotactic instrument.The mRNA levels and protein levels of TR1, Bcl-2, p53 and p21 in the hippocampus of SD rats were detected by qRT-PCR and Western blot.The expression of Caspase-3 in the hippocampus of SD rats was detected by Western blot. The activity of SOD was measured by the WST-1 cell proliferation and cytotoxicity method, the content of GSH was measured by the microplate method, and the content of MDA in the hippocampus of SD rats was measured by the TBA method. The behavioral changes of SD rats were detected by the open field test and water maze test. GraphPad Prism 9.0 was used for statistical analysis.One-way analysis of variance was used for comparisons among the three groups, and the LSD test was used for further pairwise comparisons, the t-test was used to compare the mean number of samples between the two groups. Results:(1) The mRNA and protein levels of TR1 in hippocampus of ovariectomized rats were lower than those of normal rats ( t=3.125, 4.402, both P<0.05). The mRNA and protein levels of TR1 in hippocampus of ovariectomized-TR1 rats were higher than those of ovariectomized rats ( t=4.945, 4.845, both P<0.05). (2) There were significant differences among the three groups in the escape latency in water maze test, the movement distance and the stay time in central area in the open field test ( F=44.73, 33.67, 6.51, all P<0.05), the movement distance in the open field test of ovariectomized rats was more than that of the normal group ((4 700±141) mm, (3 967±163) mm, P<0.05), the stay time in the central area was longer than that of the normal group ((87.33±3.93) s, (80.83±2.48) s, P<0.05), the movement distance ((4 267±150) mm) and the stay time in the central area ((82.17±3.43) s) of ovariectomized-TR1 group were lower than that of ovariectomized group ( P<0.05). In the water maze test, the escape latency of ovariectomized rats was longer than that of the normal group ((28.67±2.50) s, (19.50±2.59) s, P<0.05), and the escape latency in the ovariectomy-TR1 group((25.00±1.67) s) was shorter than that of ovariectomized TR1 group ( P<0.05). (3)There were significant differences in the levels of MDA, SOD and GSH in the hippocampus oxidative stress injury indexes among the three groups ( F=87.41, 91.38, 28.69, all P<0.01). The level of MDA in hippocampus of ovariectomized group was higher than that of normal group, and that in the ovariectomized-TR1 group was lower than that of ovariectomized rats group ( P<0.05). And what's more the levels of SOD and GSH in ovariectomized group were lower than those of normal group ( P<0.05), and the ovariectomized-TR1 group was higher than that of ovariectomized group ( P<0.05). (4) The results of Western blot and RT-PCR showed that the levels of p21 and p53 in hippocampal tissue of ovariectomized group were higher than those of normal group ( P<0.05), while the level of aging-related protein p21 and p53 in ovariectomized-TR1 group were significantly lower than those in ovariectomized group ( P<0.05). The level of apoptotic protein Caspase-3 in the hippocampus of ovariectomized rats was higher than that in the normal group ( P<0.05), while the level of Caspase-3 in ovariectomized-TR1 group was significantly lower than that in ovariectomized rats ( P<0.05). The level of anti-apoptotic protein Bcl-2 in hippocampus of ovariectomized group was lower than that of normal rats ( P<0.05), while the level of Bcl-2 in ovariectomized-TR1 group was significantly higher than that in ovariectomized rats ( P<0.05). Conclusion:Overexpression of TR1 can reduce apoptosis of hippocampal cells by regulating oxidative damage and reducing cell senescence.
ABSTRACT
As a sensor of cytosolic DNA, the role of cyclic GMP-AMP synthase (cGAS) in innate immune response is well established, yet how its functions in different biological conditions remain to be elucidated. Here, we identify cGAS as an essential regulator in inhibiting mitotic DNA double-strand break (DSB) repair and protecting short telomeres from end-to-end fusion independent of the canonical cGAS-STING pathway. cGAS associates with telomeric/subtelomeric DNA during mitosis when TRF1/TRF2/POT1 are deficient on telomeres. Depletion of cGAS leads to mitotic chromosome end-to-end fusions predominantly occurring between short telomeres. Mechanistically, cGAS interacts with CDK1 and positions them to chromosome ends. Thus, CDK1 inhibits mitotic non-homologous end joining (NHEJ) by blocking the recruitment of RNF8. cGAS-deficient human primary cells are defective in entering replicative senescence and display chromosome end-to-end fusions, genome instability and prolonged growth arrest. Altogether, cGAS safeguards genome stability by controlling mitotic DSB repair to inhibit mitotic chromosome end-to-end fusions, thus facilitating replicative senescence.
ABSTRACT
Objective:To construct a TPC-1 cell model that stably knocks out the HMGA2 by using CRISPR/Cas9 gene editing technology. Methods:Recombinant pLV[2gRNA]-EGFP:T2A:Puro- U6> {hHMGA2 [gRNA# A1]*}- U6>{hHMGA2 [gRNA#A2]*} of lentiviral plasmid vector was constructed: targeting HMGA2 Dual-gRNA sequence was designed, the synthesized Dual-gRNA fragment into pLV [2gRNA]-EGFP was cloned: T2A:Puro-U6 vector, extract a single clone for sequencing verification. the constructed recombinant plasmid vector with lentivirus was packed, and TPC-1 cells were infected, puromycin was used to obtain HMGA2 knock-out single clone, PCR and sequencing verification were performed, and real-time fluorescent quantitative qPCR was used to detect HMGA2 mRNA in cells Knockout efficiency. Results:After sequencing verification, pLV [2gRNA]-EGFP targeting HMGA2: T2A: Puro-U6>{hHMGA2 [gRNA#A1]*}-U6>{hHMGA2 [gRNA #A2]*} plasmid was successfully constructed; A single clone was picked for PCR identification and gene sequencing, TPC-1 cells were successfully obtained with HMGA2 gene completely knocked out; TPC-1 cells with HMGA2 knocked out were detected by real-time fluorescent quantitative qPCR, and they did not express HMGA2 mRNA.Conclusion:CRISPR/Cas9 gene editing technology enables us to construct a human papillary thyroid cancer cell line TPC-1 cell model with stable knockout of HMGA2.
ABSTRACT
The thioredoxin system is composed of thioredoxin (Trx), thioredoxin reductase (TR) and reduced nicotinamide adenine dinucleotide phosphate. Trx is an important antioxidant molecule that can resist cell death caused by various stresses and plays a prominent role in redox reactions. TR is a protein containing selenium (selenocysteine), mainly in three forms, i.e. TR1, TR2 and TR3. TR1 mainly distributed in the cytoplasm, TR2 mainly distributed in the mitochondria, and TR3 mainly distributed in the testes. TR can regulate cell growth and apoptosis. After the cell becomes cancerous, the expression of TR increases to promote cell growth and metastasis. Trx system is closely related to neurodegenerative diseases, parasitic infections, acquired immunodeficiency syndrome, rheumatoid arthritis, hypertension, myocarditis and so on. The Trx system can remove the reactive oxygen species (ROS) in the body, keep the inside and outside of the cell in a balanced state, and it interacts with the thioredoxin interacting protein (TXNIP), which plays an important role in the regulation of glucose metabolism and tumor treatment. The Trx system is an important target for drug treatment of many diseases. In this paper, the research progress of the thioredoxin system was reviewed.
ABSTRACT
Objective:To investigate the feasibility of early off-bed mobility in patients with mechanical ventilation and its effect on delirium and the duration of delirium in the intensive care unit (ICU).Methods:Adult patients who were admitted to ICU of the Affiliated Hospital of Zunyi Medical University from January 1st to December 31st 2020 for invasive mechanical ventilation and no early activity contraindication were selected. The patients were randomly divided into two groups. The experimental group conducted early off-bed mobility, such as using the shift machine off-bed sitting and walking aids to assist standing and walking, and the off-bed mobility is based on patient tolerance. The control group was given early bed activities, including conducting the joint range activity, limb movement, bed sitting, upper limb elastic belt movement, and lower limb cycling, once a day. Each joint moved 15-20 times, a total of 30 minutes. Both groups were treated with anti-infection, mechanical ventilation, analgesia and sedation, and nutrition therapy. After intervention, confusion assessment method for the ICU (CAM-ICU) was used to assess the onset and duration of delirium, physical restraint rate and duration of physical restraint, mechanical ventilation time, and the length of ICU stay.Results:After excluding patients who died or gave up treatment during the intervention period, 266 patients were included, with 133 patients in the experimental group and 133 patients in the control group. There were no significant differences in gender, age, diagnosis, degree of illness, sedative drugs between the two groups. The incidence of the delirium in intervention group was significantly lower than that in control group [26.3% (35/133) vs. 42.1% (56/133), χ 2 = 7.366, P = 0.007], the duration of delirium was shorter than that in control group (hours: 11.26±4.11 vs. 17.00±3.29, t = -4.157, P = 0.000), the rate of physical restraint was lower than that in control group [19.5% (26/133) vs. 45.1% (60/133), χ 2 = 19.864, P = 0.000], the duration of physical restraint was shorter than that in control group (hours: 9.71±4.07 vs. 13.55±7.40, t = -5.234, P = 0.000), the mechanical ventilation time and the length of ICU stay were shorter than those in control group [mechanical ventilation time (hours) : 106.23±42.25 vs. 133.10±41.88, t = -3.363, P = 0.001; length of ICU stay (days) : 8.35±6.21 vs. 13.25±9.98, t =-4.190, P = 0.000]. Conclusions:Early off-bed mobility can reduce physical restraint rate and the incidence of delirium, and thus can accelerate rehabilitation in critically ill patients. Early off-bed mobility is safe and effective for patients with mechanical ventilation in ICU.
ABSTRACT
OBJECTIVE@#To analyze a pathogenic variant of MEFV gene in a family with autosomal dominant-familial Mediterranean fever (AD-FMF).@*METHODS@#A 5-year-old boy presented with recurrent aseptic meningitis and his major symptoms included recurrent fever with headache and vomiting. His family members including his mother, sister and brother also had recurrent fever. A genetic disease was considered. DNAs were extracted from patient and all his family members' blood samples. Whole exome sequencing was performed to identify putative pathogenic variants that can explain this family's condition and Sanger sequencing was conducted. The impact of detected variants were predicted and validated by bioinformatics.@*RESULTS@#A missense variant c.2229C>G (p.Phe743Leu) in MEFV gene was identified in the proband and his family members including his mother, sister and brother. This variant had not been reported in China previously, but the locus of it had already been reported in Arabic patient with AD-FMF (PS1). This variant was absent in major allele frequency databases (PM2) and had been predicted to be pathogenic based on Mutationtaster, PROVEAN and PolyPhen-2. In addition, the change of amino acid, locating in 743 locus of pyrin protein, encoding by MEFV gene, was found to cause SPRY_PRY_TRIM20 and SPRY_superfamily domain destroyed and finally influenced the fuction of pyrin protein. On the other hand, using UCSF chimera software, we find the variant c.2229C>G (p.Phe743Leu) can induce serious influence to the spatial structure of pyrin protein and loss of protein fuction (PP3). According to the ACMG variant classification guideline, the variant c.2229C>G (p.Phe743Leu) in MEFV gene was classified as likely pathogenic (PS1+PM2+PP3).@*CONCLUSION@#The condition of this AD-FMF family may be attributed to the missense variant c.2229C>G (p.Phe743Leu) in MEFV gene. The recurrent aseptic meningitis was a very rare manifestation in AD-FMF patients and had not been reported in China previously. The clinical and genetic findings of the present study are helpful for the further understanding of AD-FMF.
Subject(s)
Child, Preschool , Humans , Male , Familial Mediterranean Fever/genetics , Gene Frequency , Genetic Testing , Mutation , Pyrin/genetics , Exome SequencingABSTRACT
Objective:To summarize the perioperative nursing experience of a patient with hemophilia arthritis complicated with hepatitis C undergoing unilateral hip and knee arthroplasty at the same time.Methods:In August 2018, a patient with hemophilic arthritis complicated with hepatitis C was admitted to the first hospital of Lanzhou University. Preparations for health education, functional exercises, examination and evaluation before operation was made. Unilateral hip and knee arthroplasty were performed at the same time, strengthen the management of incisions and catheters after the operation, actively prevent complications, and guide patients to perform functional rehabilitation exercises under the conditions of good pain management and safe coagulation factor activity; pay attention to the nursing of coagulation factor replacement treatment in the whole perioperative period.Results:After careful nursing, no serious complications occurred during the patient's hospitalization, and the position and force line of the prosthesis were satisfactory by imaging examination before discharge.Conclusion:The perioperative care of this patient proved that the above-mentioned nursing measures are effective for hemophilic arthritis patients with hepatitis C undergoing unilateral hip and knee arthroplasty at the same time.
ABSTRACT
OBJECTIVE@#To explore the molecular basis for a child featuring with Floating-Harbor syndrome.@*METHODS@#The 2-year-and-8-month-old child presented with retarded growth and language development. Genomic DNA was extracted from peripheral blood samples from the child and his parents with informed consent and subjected to whole exome sequencing. Suspected variants were verified by Sanger sequencing. Pathogenecity of the variants were predicted by using bioinformatic tools.@*RESULTS@#The child was found to carry a de novo frameshift variant c.7273dupA (p. Thr2425Asnfs*18) in the SRCAP gene. The variant was unreported previously and predicted to be pathogenic by MutationTaster. Analysis using HomoloGene system and MEGA software indicated position 2425 of the SRCAP protein to be highly conserved. Substitution of amino acid (Thr) at this position may cause destruction of three AT-hook domains (Amino acid 2857-2869, 2936-2948 and 3004-3016) and serious damage to the function of SRCAP protein.@*CONCLUSION@#The patient's condition may be attributed to the de novo frameshift variant c.7273dupA (p. Thr2425Asnfs*18) of the SRCAP gene. Above finding can facilitate diagnosis of Floating-Harbor syndrome among Chinese population.
ABSTRACT
OBJECTIVE@#To detect pathogenic variant in a juvenile with severe type Cornelia de Lange syndrome (CdLS).@*METHODS@#A 12-year-old female presented with comprehensive developmental retardation and deformity of lower limbs. Genomic DNA was extracted from peripheral blood sample of the patient. Whole exome sequencing was performed to identify pathogenic variants. Putative variant was verified by Sanger sequencing. The impact of variants was predicted and validated by bioinformatic analysis.@*RESULTS@#A de novo missense variant, c.1507A>G (p. Lys503Glu), was found in the NIPBL gene of the proband. The variant was unreported previously and predicted to be pathogenic by PolyPhen-2, MutationTaster and SIFT. Using HomoloGene system, the 503 loci in the NIPBL protein are highly conserved. The change of amino acid (Glu), locating in 503 locus, was found to cause the Neuromodulin_N superfamily domain destroyed, resulting in severe damage to the function of NIPBL protein.@*CONCLUSION@#The de novo missense variant c.1507A>G (p. Lys503Glu) of the NIPBL gene probably underlies the disease in this patient.
Subject(s)
Child , Female , Humans , Cell Cycle Proteins , Genetics , De Lange Syndrome , Genetics , Developmental Disabilities , Genetics , Mutation, Missense , PhenotypeABSTRACT
OBJECTIVE@#To analyze pathogenic variant of CSNK2A1 gene in a boy with Okur-Chung neurodevelopmental syndrome (OCNS).@*METHODS@#The 8-year-old boy presented with growth retardation, intellectual disability and spells of breath holding. With genomic DNA extracted from peripheral blood samples of the patient and his parents, whole exome sequencing was carried out. Putative pathogenic variants were verified with Sanger sequencing. The nature and impact of detected variants were predicted through bioinformatic analysis.@*RESULTS@#A novel de novo missense variant c.149A>G (p.Tyr50Cys) of the CSNK2A1 gene was identified, which was unreported previously. The variant was predicted to be pathogenic by PolyPhen-2, Mutation Taster and SIFT software. Based on a HomoloGene system, 50 loci within the CK2alpha protein are highly conserved. The change of amino acid (Cys) at position 50 has destroyed the ATP binding loop domain, causing serious damage to its function. As predicted by a Swiss PDB viewer, the variant can significantly alter the spatial structure of CK2alpha, resulting in loss of protein function.@*CONCLUSION@#The patient's condition may be attributed to the novel de novo missense variant c.149A>G (p.Tyr50Cys) of the CSNK2A1 gene.
ABSTRACT
OBJECTIVE@#To explore the genetic basis for a child featuring X-linked intellectual disability.@*METHODS@#The 1-year-and-6-month-old child presented with growth retardation, intellectual disability and bilateral alternating squint. With DNA extracted from the child and his parents' peripheral venous blood samples, whole exome sequencing was carried out to identify potential variants that can explain his condition. Suspected variants were validated by Sanger sequencing. The impact of variants was predicted by bioinformatic tools.@*RESULTS@#The child was found to harbor a de novo nonsense c.3163C>T (p.Arg1055*) variant of the IQSEC2 gene. The variant, unreported previously, was predicted to be pathogenic based on MutationTaster, PROVEAN and SIFT. Analysis using a HomoloGene system suggested Arg1055 in IQSEC2 residues to be highly conserved evolutionarily, and that replacement of Arg1055 may cause destroy of the PH domain (AA 951-1085) and serious damage to the function of IQSEC2 protein. Analysis with UCSF chimera software suggested that the c.3163C>T (p.Arg1055*) variant can induce serious damages to the secondary structures of IQSEC2 protein, causing loss of its function.@*CONCLUSION@#The patient's condition may be attributed to the de novo nonsense variant c.3163C>T (p.Arg1055*) of the IQSEC2 gene.
ABSTRACT
Objective:To assess the interobserver and inter-modalities agreement with two non-invasive diagnostic modalities of hepatocellular carcinoma in high-risk patients: contrast-enhanced ultrasound liver imaging reporting and data system (CEUS LI-RADS) and magnetic resonance imaging liver imaging reporting and data system (MRI LI-RADS).Methods:From August 2017 to August 2019, the CEUS and MRI data of patients at high risk for HCC from the Second Affiliated Hospital of Zhejiang University School of Medicine were analyzed retrospectively. A total of 217 lesions in 173 patients were classified according to CEUS LI-RADS v. 2017 or MRI LI-RADS v. 2018, by 4 blinded independent observers with more than 10 years of experience of CEUS or MRI. Interobserver and inter-modalities agreement was assessed with Cohen′s kappa.Results:The interobserver agreement was moderate and comparable for CEUS/MRI LI-RADS category (κ=0.606/0.603), the inter-modalities agreement was moderate for CEUS and MRI LI-RADS category (κ=0.564), LI-RADS 3, M, 4 and 5 by two imaging methods showed that the Kappa values were 0.739, 0.551, 0.734 and 0.592, respectively.Conclusions:The total inter-modalities agreement between CEUS and MRI LI-RADS categories is moderate, while the agreements of LI-RADS 3, 4 are strong, and LI-RADS M, 5 are moderate.
ABSTRACT
Objective:To explore the risk factors that may affect the prognosis of sepsis in children.Methods:A retrospective study was conducted. Septic children who aged 28 days to 18 years old admitted to the department of critical care medicine of Xi'an Children's Hospital from January 2018 to May 2019 were enrolled. The general demographic data and clinical indicators within 8 hours after admission were collected, and the 28-day mortality was the end point. The differences of the indexes between the survival and the dead children were compared, and the risk factors of prognosis by binary Logistic regression analysis were analyzed. The predictive value of related risk factors on the prognosis was verified by receiver operating characteristic (ROC) curve.Results:A total of 165 children with sepsis were selected, 75 died in 28-days with a 28-day mortality of 45.45%. Compared with the survival group, the alanine aminotransferase (ALT), aspertate aminotransferase (AST), serum creatinine (SCr), creatine kinase isoenzyme (CK-MB), lactate (Lac) and procalcitonin (PCT) in the dead group significantly increased [ALT (U/L): 404.99±88.26 vs. 181.64±35.17, AST (U/L): 453.37±35.37 vs. 210.69±92.50, SCr (μmol/L): 156.46±105.65 vs. 54.32±25.46, CK-MB (U/L): 244.86±53.68 vs. 97.29±19.11, Lac (mmol/L): 5.55±1.66 vs. 2.49±1.29, PCT (ng/L): 35.55±15.87 vs. 18.66±4.91, all P < 0.01], while platelet count (PLT), serum ionized calcium concentration (iCa 2+) significantly decreased [PLT (×10 9/L): 81.49±29.53 vs. 165.43±97.81, iCa 2+ (mmol/L): 0.89±0.16 vs. 1.84±0.14, both P < 0.01]. There was no significant difference in gender, age, prothrombin time (PT), activated partial thromboplastin time (APTT), albumin (ALB) and blood urea nitrogen (BUN) between the two groups. Binary Logistic regression analysis showed that Lac, SCr and PCT were the risk factors for the prognosis of children with sepsis [odds ratio ( OR) and 95% confidence interval (95% CI) were 2.18 (1.22-3.09), 2.01 (1.00-2.07), 1.14 (1.07-1.21), respectively, all P < 0.01], while PLT and iCa 2+ were protective factors [ OR and 95% CI were 0.95 (0.93-0.98), 0.32 (0.12-0.42), respectively, both P < 0.01]. Further ROC curve analysis showed that Lac, PCT and SCr were all of predictive value for the prognosis of children with sepsis, and the area under ROC curve (AUC) was 0.881, 0.864, 0.711, respectively (all P < 0.01); the combined predicted AUC of Lac, SCr, PCT, PLT and iCa 2+ influencing factors was as high as 0.981, with the sensitivity of 97.6%, and the specificity of 98.7%. Conclusion:Lac, PCT and SCr are independent risk factors for the prognosis of children with sepsis.
ABSTRACT
In the practical teaching of large-scale medical equipment courses in medical colleges and universities. There are some problems such as less opportunities for students to operate the equipment which is possessed by teaching hospitals, the large-scale medical equipment in teaching hospitals are in a pathogenic environment, and some equipment such as CT, DR have radiation hazards, which lead to difficulties in practical teaching. These problems restrict the cultivation of students' practical ability, cause disconnections between theoretical teaching and practical teaching, and are not conducive to training "new engineering" and "new medical science" talents. So, this paper puts forward an idea which introduces virtual simulation teaching instruments of large-scale medical equipment into the teaching of medical equipment in medical colleges and universities, uses the physical structures, control systems and functional software of virtual simulation teaching instruments to implement the teaching of "integration of theory and practice", and also sets up validation experiments, comprehensive experiments, designing experiments and research explorative experiments in the teaching process. This kind of teaching can not only realize the high integration of theoretical teaching and practical teaching, but also consolidate students' basic theoretical knowledge, improve their abilities to solve complex engineering problems, and cultivate "new engineering" and "new medical" talents in line with the needs of the new era.
ABSTRACT
OBJECTIVE@#To investigate the effects of ALKBH5 on migration, invasion and epithelial-mesenchymal transition (EMT) of human trophoblast cells.@*METHODS@#The expression plasmid of ALKBH5 or a negative control plasmid (ALKBH5-NC) was transfected in human trophoblast HTR-8 /SVneo cells, and the expressions of ALKBH5 mRNA and protein were detected by qRT-PCR and Western blotting. Transwell assay was used to assess the changes in migration and invasion abilities of the trophoblast cells after the transfection. Western blotting was performed to detect the expressions of EMT-related proteins in the cells including vimentin, fibronectin, E-cadherin, N-cadherin, MMP9 and MMP2.@*RESULTS@#ALKBH5 mRNA and protein expressions were significantly higher in ALKBH5 group than in the control group (@*CONCLUSIONS@#ALKBH5 is involved in the pathogenesis of preeclampsia by inhibiting EMT of trophoblast cells and hence reducing their migration and invasion abilities.