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Clinical data of a child with acromesomelic dysplasia Maroteaux type (AMDM) treated in the Department of Pediatrics, Tianjin Medical University General Hospital at November 2018 was retrospectively analyzed.The female child aged 3 years and 3 months old with 83 cm height (-3.84 SD) had clinical manifestations of disproportionate short stature, disproportionate shortening of forearms and forelegs, and stubby fingers and toes.Gene sequencing identified compound heterozygous mutations, c.1640T>A(p.Val547Asp)/c.682G>A(p.Gly228Ser), in the NPR2 gene, which have not been reported in the Human Gene Mutation Database.Their protein function was predicted harmful.The child was diagnosed as AMDM.During the follow-up until 4 years and 8 months old, the child was 90 cm tall (-4.35 SD), with a growth velocity of 4.9 cm/year.She was treated with recombinant human growth hormone (rhGH) treatment for 9 months and regularly followed up.The child was now 98.2 cm height (-3.07 SD) and she had a growth velocity of 10.9 cm/year.This case report enriched the gene mutation spectrum of AMDM.Treatment with rhGH can effectively improve the height of the child, but the long-term effect needs further follow-up and observation.
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@#<b>Objective</b> To investigate the current situation of quality control in medical linear accelerators in Hebei Province, China. <b>Methods</b> The main performance indices of some medical linear accelerators in Hebei Province, 2019—2021 were tested according to the current relevant effective standards GB 15213—2016 <i>Medical Electron Accelerators-Functional Performance Characteristics and Test Methods</i> and WS 674—2020 <i>Specification for Testing of Quality Control in Medical Linear Accelerator</i>. <b>Results</b> A total of 175 medical linear accelerators were tested from 2019 to 2021, and the annual pass rates were 72.4% in 2019, 75.9% in 2020, and 79.4% in 2021. The overall pass rate of initial inspection was 76.0%, and the pass rate of reinspection was 100.0%. The index with the lowest pass rate in the initial inspection was square X radiation field uniformity, followed by dose deviation and square X radiation field symmetry. <b>Conclusion</b> Medical institutions should strengthen quality control management, conduct regular testing of medical linear accelerators, and timely correct dose deviation, so as to ensure the treatment effect of patients.
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Since its birth in the early 1990s, metabolic engineering technology has gone 30 years rapid development. As one of the preferred chassis for metabolic engineering, S. cerevisiae cells have been engineered into microbial cell factories for the production of a variety of bulk chemicals and novel high value-added bioactive compounds. In recent years, synthetic biology, bioinformatics, machine learning and other technologies have also greatly contributed to the technological development and applications of metabolic engineering. This review summarizes the important technological development for metabolic engineering of S. cerevisiae in the past 30 years. Firstly, classical metabolic engineering tools and strategies were reviewed, followed by reviewing systems metabolic engineering and synthetic biology driven metabolic engineering approaches. The review is concluded with discussing future perspectives for metabolic engineering of S. cerevisiae in the light of state-of-the-art technological development.
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Computational Biology , Metabolic Engineering , Saccharomyces cerevisiae/genetics , Synthetic BiologyABSTRACT
BACKGROUND: Induced pluripotent stem cells are a type of reprogrammed cells with similar characteristics to embryonic stem cells, which are capable of differentiating into phenotypes associated with patient specific diseases. Moreover, their clinical application avoids ethical issues. OBJECTIVE: To review the research progress of induced pluripotent stem cells in myocardial regeneration and repair, cardiovascular disease models, drug development and screening, and drug toxicity testing. METHODS: PubMed (2006-2018) and CNKI (2013-2018) databases were retrieved for relevant articles using the keywords of "induction of pluripotent stem cells; myocardial infarction; arrhythmia; cardiovascular disease; heart failure; heart transplantation; disease model; drug toxicity" in English and Chinese, respectively. The data were reviewed one by one, and the citations involved in the literatures were also reviewed. RESULTS AND CONCLUSION: Induced pluripotent stem cells have great potential value in myocardial regeneration and repair, establishment of cardiovascular disease models, new drug development and screening, and drug toxicity detection. The application prospect of the cells is broad, but most of the research is still in the experimental stage. In addition, safety problems, such as low induction efficiency and tumorigenicity, will limit the clinical application of induced pluripotent stem cells.
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BACKGROUND: Induced pluripotent stem cells are a type of reprogrammed cells with similar characteristics to embryonic stem cells, which are capable of differentiating into phenotypes associated with patient specific diseases. Moreover, their clinical application avoids ethical issues. OBJECTIVE: To review the research progress of induced pluripotent stem cells in myocardial regeneration and repair, cardiovascular disease models, drug development and screening, and drug toxicity testing. METHODS: PubMed (2006-2018) and CNKI (2013-2018) databases were retrieved for relevant articles using the keywords of "induction of pluripotent stem cells; myocardial infarction; arrhythmia; cardiovascular disease; heart failure; heart transplantation; disease model; drug toxicity" in English and Chinese, respectively. The data were reviewed one by one, and the citations involved in the literatures were also reviewed. RESULTS AND CONCLUSION: Induced pluripotent stem cells have great potential value in myocardial regeneration and repair, establishment of cardiovascular disease models, new drug development and screening, and drug toxicity detection. The application prospect of the cells is broad, but most of the research is still in the experimental stage. In addition, safety problems, such as low induction efficiency and tumorigenicity, will limit the clinical application of induced pluripotent stem cells.
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Objective To study the diagnostic value of glycosylated hemoglobin(HbA1c)combined with ho-meostasis model assessment of insulin resistance( HOMA-IR)in obese children with prediabetes. Methods Five hundred and ninety-five obese children diagnosed at Outpatient Department of Pediatrics,Tianjin Medical University General Hospital were enrolled in the study from October 2012 to March 2016. Oral glucose tolerance test(OGTT)and HbA1c test were performed after fasting 8 to 10 hours for all the subjects. According to the World Health Organization (WHO)criteria,the obese children were divided into non-prediabetes group(483 cases)and prediabetes group(112 cases). The levels of HOMA-IR and HbA1c were compared between 2 groups. The receiver operating characteristic (ROC)curve was drawn for screening prediabetes,and the diagnosis value of area under curve( AUC)and different cutoff value were calculated. Logistic regression model was used to analyze the combined diagnosis of prediabetic AUC with preserved probability as a single variable and ROC curve. Z test was used to compare the statistical differences of each AUC. Results The levels of HbA1c and HOMA-IR of the prediabetes obese children group[(5. 65 ± 0. 36)%and 11. 60 ± 8. 86]were all higher than those of the non-prediabetes obese children group[(5. 47 ± 0. 32)% and 6. 49 ± 4. 61],and there were significant differences between 2 groups(all P<0. 01). The AUC of HbA1c ROC for prediabetes was 0. 633. When the cutoff was 5. 585%,the sensitivity and specificity were 0. 584 and 0. 601,respective-ly. The AUC of HOMA-IR ROC for prediabetes was 0. 758. When the cutoff was 7. 244,the sensitivity and specificity were 0. 779 and 0. 669,respectively. When combined with HOMA-IR and HbA1c,the AUC was 0. 764. Compared with HbA1c,there were significant differences in AUC of ROC curve between HOMA-IR alone or HOMA-IR com-bined with HbA1c in the diagnosis of prediabetes mellitus(all P<0. 01). There was no significant difference in AUC of ROC curve between HOMA-IR alone and HOMA-IR combined with HbA1c in the diagnosis of prediabetes melli-tus(P>0. 05). Conclusions Only HOMA-IR or HOMA-IR combined with HbA1c may be the optimal indexes for diagnosing obese children with prediabetes.
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Objective To study the effects of ShenhongTongluo Granules on blood lipids, inflammatory related factors and oxidative stress-related indexes in rabbit atherosclerosis model, and to explore the mechanism of Shenhongtongluo Granules on atherosclerosis. Methods 70 healthy male New Zealand white rabbits were randomly divided into blank control group, model group, aspirin combined with simvastatin group, aspirin group, simvastatin group, Shenhongtongluo Granule prevention group, and Shenhongtongluo Granule treatment group. The rabbit atherosclerosis model was established by lipidforage diet combined with immune stimulation, and the blank group was fed with commonforage. The Shenhongtongluo Granule prevention group was given Shenhongtongluo Granule at the beginning of modeling, and the other intervention groups were given the corresponding drugs after the successful modeling. Before and after modeling, lipid changes were checked in each group, including total cholesterol (TC), triglycerides (TG), low-density lipoprotein cholesterol (LDL-C), superoxide dismutase activity (SOD) and malondialde-hyde (MDA) in the serum. The aorta of the model group was separated and oil red O staining was performed to observe the pathological and morphological changes of the aorta. Western blotting and reverse transcription polymerase chain reaction (RT-PCR) were used to detect the expression of Nox4 and p22phox. Western blotting was used to detect the expression of TLR4 and NF-κB protein in aorta. Results Twelve weeks after modeling, atheromatous plaques were obviously observed on the aorta stained with oil red O, indicating successful atherosclerosis modeling. Compared with the blank control group, TC, TG, and LDL-C in the serum of the atherosclerosis model group were significantly increased (all P<0.05). Compared with the model group, the atherosclerotic plaques in the Shenhongtongluo Granule prevention and the treatment groups were significantly reduced , the levels of TC , TG , LDL-C in serum were decreased, and the levels of SOD were increased, and MDA levels were reduced (all P<0.05). The expressions of TLR4, NF-κB, Nox4, and p22phox in the aorta of Shenhongtongluo Granule prevention group were significantly reduced (all P<0.05). Conclusions Shenhongtongluo Granules can inhibit the formation of atheromatous plaques, have a good effect on regulating blood lipids, and can improve the ability of anti-oxidative stress, and have a good preventive and therapeutic effect.
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<p><b>OBJECTIVE</b>To explore the molecular basis for a CD36 deficiency individual and distribution of CD36 gene mutation in Guangxi population.</p><p><b>METHODS</b>A female individual was studied. CD36 phenotype was detected by monoclonal antibody immobilization of platelet antigens assay (MAIPA) and flow cytometry (FCM). The coding regions of the CD36 gene were sequenced. A DNA-based polymerase chain reaction-sequence specific primer (PCR-SSP) assay was used to verify the identified mutation. Cell lines expressing the mutant and wild-type CD36[CD36(MT) and CD36(WT)] were established, with the expression of CD36 determined by Western blotting. The distribution of CD36 gene mutation was investigated among 1010 unrelated individuals with the PCR-SSP assay.</p><p><b>RESULTS</b>Both MAIPA and FCM assays showed that the patient had type II CD36 deficiency. DNA sequencing showed that she has carried a heterozygous mutation T538C (Trp180Arg) in the exon 6 of CD36. Sequencing of cDNA clone confirmed that there was a nucleotide substitution at position 538 (538T>C). Western blotting also confirmed that the CD36 did not express on the CD36(MT) cell line that expressed the 538C mutant, but did express on the CD36(WT) cell line. The novel CD36 mutation T538C was further verified with 100% concordance of genotyping results by DNA-based PCR-SSP assay and 1010 unrelated individuals. No CD36 538C allele was detected among the 1010 individuals.</p><p><b>CONCLUSION</b>This study has identified a novel CD36 mutation T538C(Trp180Arg)(GenBank: HM217022.1), and established a genotyping method for the novel sequence-specific primer PCR. The novel mutation is rare in Guangxi and can cause type II CD36 deficiency.</p>
Subject(s)
Female , Humans , Middle Aged , Base Sequence , Blood Platelet Disorders , Genetics , Blood Platelets , Cell Biology , Metabolism , Blotting, Western , CD36 Antigens , Genetics , Metabolism , Cells, Cultured , DNA Mutational Analysis , DNA Primers , Genetics , Exons , Genetics , Flow Cytometry , Fluorescent Antibody Technique , Genetic Diseases, Inborn , Genetics , Genotype , Genotyping Techniques , Methods , Monocytes , Cell Biology , Metabolism , Mutation, Missense , Polymerase Chain Reaction , MethodsABSTRACT
<p><b>OBJECTIVE</b>To determine the mutational profile and clinical implications of the viral reverse-transcriptase (rt)A 181T mutation in hepatitis B virus (HBV) through population-based analysis of clinical samples.</p><p><b>METHODS</b>Serum samples from 3, 013 patients who visited The 302 Hospital (Beijing, China) were investigated.HBV DNA was extracted and HBV mutations and genotypes were determined by direct sequencing.Recombinant plasmids harboring the rtA181T/sW172* mutant or wild type sequence were constructed and transfected into the HepG2 cell line. The levels of HBsAg in culture supernatants were compared and statistically analyzed.</p><p><b>RESULTS</b>The incidence of rtA181T across the study population was 4.1% (165/3, 013), and most of the rtAl 81T-positive patients had received adefovir and/or lamivudine.Forty percent (66/165) of the rtA 181T cases were single mutants and treatment responsive, 46.1% (76/165) included the adefovir-resistant mutation rtA 181 V/N236T, 12.1% (20/165) included the lamivudine-resistant mutation rtM204V/rtM2041, and 1.8% (3/165) included multidrug-resistant mutations.Interestingly, 73.9% (122/165) of the rtA181T-positive samples were detected with co-existing wild-type nucleotides at the site. The rates of HBV/C to HBV/B were 92.1% to 7.9% in the rtA181T-positive patients, but 82.1% to 17.9% in the rtA181T-negative paticnts (P less than 0.01).Almost all (98.2%; 129/165) of the rtA181T led to sW172*, while only 1.8% of the rtA181T (3/165) led to sW172L or sW172S.HBsAg secretion in vitro was reduced from the rtA181T/ sW172* strain, but there was no significant difference observed in the average serum HBsAg and HBV DNA levels of patients who carried or did not carry the mutant.</p><p><b>CONCLUSION</b>The HBV rtA181T mutation is closely associated with adefovir and lamivudine exposure.rtA181T may led to sW172*, culminating in suppression of HBsAg secretion.However, co-existence of the mutant with wild-type sequences was common among our patient population, suggesting that the mutation had little impact on serum HBsAg and HBV DNA levels across the clinical study population.</p>
Subject(s)
Humans , Adenine , Antiviral Agents , China , Genotype , Hepatitis B Surface Antigens , Hepatitis B virus , Lamivudine , Mutation , OrganophosphonatesABSTRACT
With the obesity epidemic,children and adolescents with type 2 diabetes mellitus(T2DM)signifi-cantly increased throughout the world,screening and diagnosis of T2DM in the high - risk population is very important. In addition to lifestyle modification,the recommended optimal pharmacologic treatment of children and adolescents with T2DM is Metformin and Insulin. To reduce the risk of cardiovascular diseases,should fully understand the comorbidities and complications of T2DM,and take better assessment and management.
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Obesity in children and adolescents has become a public health problem of global attention.Although children obesity has less significant cardiovascular events,many obese children have early vascular lesion and endothelial dysfunction.Therefore,the risk factors of cardiovascular injury should be evaluated and intervented as soon as possible.
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BACKGROUND:Application of mechanical valve and bioprosthetic valve replacement is an effective means for the treatment of end-stage valve disease. However, their clinical application is constrained by multiple factors. Tissue-engineered heart valves with biological activity hold the potential to overcome the defect of the mechanical valves and bioprosthetic valves. Choosing appropriate cells for cellseeding is a significant aspect for the research of tissue-engineered heart valves. A growing number of somatic cells and stem cells have been used for construction of tissue-engineered heart valves, however, not yet achieve the desired result. OBJECTIVE:To review the studies on seed cells for tissue-engineered heart valves and the cellseeding methods in vitro on the basis of the cellular components of heart valves. METHODS:First author searched PubMed and Wanfang database with computer for related articles published from January 2000 to December 2012. The keywords were“tissue engineering, heart valves, cel”. Preferred articles concerned seed cells of tissue-engineered heart valves with the relevance and authority. A total of 39 articles published in the prestigious journals were reviewed. RESULTS AND CONCLUSION:Endothelial cells and interstitial cells were mainly valvular cellular components. In the early stage, endothelial cells and fibroblasts were used to construct tissue-engineered heart valves. With deep stem cellresearch, the application of pulsatile bioreactor cultivation mesenchymal stem cells holds a great potential to produce tissue-engineered heart valves.
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Objective To study the relationship between the level of serum epithelial fatty acid binding protein (E-FABP) and cardiovascular disease in obese children. Methods Thirty children with metabolic syndrome (MS), 32 obesity children with no MS and 50 healthy children were recruited. Serum E-FABP and glucose/lipid metabolic indices were measured. Results Com-pared with the healthy children, levels of serum E-FABP in MS children were signiifcantly elevated (P=0.001). Compared with obesity children, levels of serum E-FABP of MS children were elevated, but the difference was not signiifcant (P>0.05). The cor-relations of E-FABP with waist to hip ratio, waist-to-height ratio, atherogenic index, fasting insulin, insulin resistance index were positive (P<0.05). According to the multivariate stepwise regression analysis, E-FABP was the independent risk of atherogenic index (P=0.018). Conclusions E-FABP plays a role in the development of atherosclerosis in obesity and MS.
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The validity of the recently recommended HbA1C criterion by the American Diabetes Association (ADA) in identification of dysglycemia in children with obesity was evaluated. 293 obese children underwent oral glucose tolerance test. Receiver operating characteristic ( ROC ) curve analysis was used to examine the sensitivity and specificity of fasting plasma glucose (FPG) and HbA1C in identifying dysglycemia. The results showed that the prevalence of type 2 diabetes mellitus (T2DM) was 3.8％ and prediabetes 16. 0％ based on plasma glucose standard. 4. 1％ and 25.6％ were categorized as T2DM and “at high risk of diabetes mellitus” based on both HbA1C and plasma glucose criteria. HbA1C was more efficacious than FPG in detecting abnormal glucose tolerance as shown by the areas under the curve in ROC of 0. 875 and 0. 713 respectively (P＜0. 01 ). The sensitivity and specificity were 60. 5％ and 86. 8％ at HbA1C ≥5.7％, and 30. 5％ and 94.0％ at FPG ≥ 5.6 mmol/L.
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OBJECTIVE: To summarize the recent progress and clinical application of percutaneous coronary intervention and to seek the direction of new developments.METHODS: A computerized online database of Pubmed was searched to identify articles published from May 2000 to February 2009 with the key words of "drug eluting stents, peroutaneous coronary intervention, and coronary disease". There were 154 articles were retrieved by computer, by reading tities and Abstract s, 27% literatures were remained after excluding 74 irrespective papers and 53 repetitive studies.RESULTS: An ideal drug-eluting stent (DES) was comprised of a platform, a drug carrier vehicle and a pharmaceutical compound in harmony with each other. With the ongoing development of DES materials and drugs, more effective DES was introduced in the practice. Recently, clinical data on DES encourage the interventional cardiologist to use DES in more challenging coronary lesions, such as chronic total occlusions, complex lesions and multi-vessel lesions. However, the safety and efficacy of DES need further attention. Therefore, novel strategies including bioabsorbable stents, and pro-healing agents coated stents were promising.CONCLUSION: The development of percutaneous coronary intervention is a breakthrough in intervention cardiology that brings great benefit to patients with coronary disease, especially for restenosis and revascularization. Nevertheless, more endeavour will be necessary to create PCI with high efficacy as well as low risk, and safety and effectiveness of PCI in patients with ST-segment evaluation myocardial infraction and stent fracture prevention need further study.
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BACKGROUND:Mesenchymal stem cells are capable of self-renew,a high degree of proliferation,with multi-differentiation potential,low immunogenicity and immunomodulatory properties.Both in vivo and in vitro it is able to regulate allogeneic immune response,to induce immune tolerance.In the solid organ transplantation it is playing an increasingly important role.OBJECTIVE:To summarize the research progress on the immunomodulatory mechanism and application of mesenchymal stem cells in solid organ transplantation.METHODS:An online search of Pubmed was undertaken by using the key words of "Mesenchymal Stem Cells,Mesenchymal Stem Cell Transplantation,Organ Transplantation,Transplantation Immunology,Immunologic Graft Enhancement,Graft vs.Host Disease" in Mesh to identify the relevant articles published in English from January 1994 to October 2009.At the same time,Wanfang database was screened to identify the relevant articles published between January 1994 and October 2009 with the key words of "Mesenchymal Stem Cells,Organ Transplantation,Transplantation Immunology" in Chinese.Inclusive criterion:The articles related to the immunomodulatory properties,transplantation immunology and application of mesenchymal stem calls in the solid organ transplantation were included.Exclusive criterion:The articles with repetitive research or Meta analysis were excluded.RESULTS AND CONCLUSION:Totally 200 relevant articles were selected and 86 of them met the inclusive criterion.Mesenchymal stem cells exhibit low immunogenicity and immunomodulatory properties,have an indispensable advantage about inducing graft tolerance and repairing tissue in solid organ transplantation.The mechanism of inducting immune tolerance may be related to soluble factors,regulatory T cells,tolerant dendritic cells,bone marrow chimerism,anti-inflammatory and tissue repair,dose and time of injecting MSCs.