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1.
Article in Chinese | WPRIM | ID: wpr-1017639

ABSTRACT

Human physiological indicators have become an important standard for assessing health in modern society.Traditional detection methods often require a separate laboratory,complex operation process and long detection time,so it is urgent to develop portable,fast and accurate on-site detection technologies for bioanalysis.Point-of-care testing(POCT),which differs from traditional laboratory testing,can realize the rapid in situ detection of biomarkers without the complicated analytical process of the laboratory.Smartphones,which are an essential tool in our daily life,not only have independent operating systems and built-in storage functions,but also have high-definition cameras,which have great application potential in POCT visualization.The combination of various biosensing technologies and smartphones has developed into a new direction in the field of POCT.This review mainly introduced the research progress of smartphone-based visual biosensors in POCT in recent years,including colorimetric sensors,fluorescence sensors,chemiluminescence sensors and electrochemiluminescence sensors.Finally,the problems faced by smart-phone-based visual biosensors in the application of POCT were summarized,and their future development was prospected.

2.
Article in English | WPRIM | ID: wpr-981070

ABSTRACT

OBJECTIVE@#The mode of human immunodeficiency virus (HIV) transmission via injection drug use (IDU) still exists, and the recent shift in IDU-related transmission of HIV infection is largely unknown. The purpose of this study was to analyze the spatiotemporal sources and dynamics of HIV-1 transmission through IDU in Guangxi.@*METHODS@#We performed a molecular epidemiological investigation of infections across Guangxi from 2009 to 2019. Phylogenetic and Bayesian time-geographic analyses of HIV-1 sequences were performed to confirm the characteristics of transmission between IDUs in combination with epidemiological data.@*RESULTS@#Among the 535 subjects, CRF08_BC (57.4%), CRF01_AE (28.4%), and CRF07_BC (10.7%) were the top 3 HIV strains; 72.6% of infections were linked to other provinces in the transmission network; 93.6% of sequence-transmitted strains were locally endemic, with the rest coming from other provinces, predominantly Guangdong and Yunnan; 92.1% of the HIV transmission among people who inject drugs tended to be transmitted between HIV-positive IDUs.@*CONCLUSION@#HIV recombinants were high diversity, and circulating local strains were the transmission sources among IDUs in Guangxi. However, there were still cases of IDUs linked to other provinces. Coverage of traditional prevention strategies should be expanded, and inter-provincial collaboration between Guangxi, Yunnan, and Guangdong provinces should be strengthened.


Subject(s)
Humans , HIV-1/genetics , HIV Infections , Drug Users , Phylogeny , Bayes Theorem , China/epidemiology , Genotype
3.
Article in Chinese | WPRIM | ID: wpr-985936

ABSTRACT

Objective: To investigate the quality of life and associated factors in patients with coronary heart disease (CHD) in China. Methods: A cross-sectional study of 25 provinces and cities in China was performed from June to September 2020. A questionnaire was used to collect the socio-demographic and clinical information of patients with CHD, while the European Five-dimensional Quality of Life Scale (EQ-5D) was used to assess the quality of life. Multiple linear regression model was performed to analyze the associated factors. Results: The median age of the 1 075 responders was 60 (52, 67) years, and 797 (74.1%) were men. The EQ-5D and EQ-VAS indices were 0.7 (0.5, 0.8) and 60.0 (40.0, 80.0). Among the five dimensions in the quality of life scale, the frequency of anxiety/depression was the highest (59.8%), while problems in self-care was the lowest (35.8%). In the multiple linear regression model, female, increasing age, obesity, comorbidity(ies), anxiety/depression, social media channels, and receiving the CABG therapy were associated with the lower EQ-5D index (all P<0.05). In addition, increasing age, obesity, comorbidity (ies), depression, anxiety and depression, social media channels, and receiving the CABG therapy were associated with lower EQ-VAS index (all P<0.05). Conclusion: Over half of the patients with CHD in China have a low quality of life, which is related to gender, age, obesity, treatment pathway, the presence or absence of comorbidity (ies), and psychological state. In addition to managing the adverse effects of traditional socio-demographic factors on the quality of life, clinical practices should pay attention to the psychological state of patients. Moreover, establishing a WeChat group for doctor-patient communication could improve the quality of life of CHD patients.


Subject(s)
Male , Humans , Female , Quality of Life/psychology , Self Report , Cross-Sectional Studies , Coronary Disease , Surveys and Questionnaires , Obesity
4.
Article in English | WPRIM | ID: wpr-1007854

ABSTRACT

OBJECTIVE@#This study aimed to determine the HIV-1 subtype distribution and HIV drug resistance (HIVDR) in patients with ART failure from 2014 to 2020 in Hainan, China.@*METHODS@#A 7-year cross-sectional study was conducted among HIV/AIDS patients with ART failure in Hainan. We used online subtyping tools and the maximum likelihood phylogenetic tree to confirm the HIV subtypes with pol sequences. Drug resistance mutations (DRMs) were analyzed using the Stanford University HIV Drug Resistance Database.@*RESULTS@#A total of 307 HIV-infected patients with ART failure were included, and 241 available pol sequences were obtained. Among 241 patients, CRF01_AE accounted for 68.88%, followed by CRF07_BC (17.00%) and eight other subtypes (14.12%). The overall prevalence of HIVDR was 61.41%, and the HIVDR against non-nucleoside reverse transcriptase inhibitors (NNRTIs), nucleotide reverse transcriptase inhibitors (NRTIs), and protease inhibitors (PIs) were 59.75%, 45.64%, and 2.49%, respectively. Unemployed patients, hypoimmunity or opportunistic infections in individuals, and samples from 2017 to 2020 increased the odd ratios of HIVDR. Also, HIVDR was less likely to affect female patients. The common DRMs to NNRTIs were K103N (21.99%) and Y181C (20.33%), and M184V (28.21%) and K65R (19.09%) were the main DRMs against NRTIs.@*CONCLUSION@#The present study highlights the HIV-1 subtype diversity in Hainan and the importance of HIVDR surveillance over a long period.


Subject(s)
Humans , Reverse Transcriptase Inhibitors/therapeutic use , HIV-1/genetics , Cross-Sectional Studies , Phylogeny , Anti-HIV Agents/therapeutic use , Drug Resistance, Viral/genetics , HIV Infections/epidemiology , Mutation , China/epidemiology , Prevalence , Genotype
5.
Article in Chinese | WPRIM | ID: wpr-982078

ABSTRACT

OBJECTIVE@#To investigate the biological effects and its relative mechanism of decitabine combined with anlotinib on multiple myeloma cells.@*METHODS@#The human MM cell lines and primary cells were treated with different concentrations of decitabine, anlotinib, and decitabine+anlotinib, respectively. The cell viability was detected and combination effect was calculated by CCK-8 assay. The apoptosis rate was measured by flow cytometry and the level of c-Myc protein was determined by Western blot.@*RESULTS@#Both decitabine and anlotinib could effectively inhibit the proliferation and induce the apoptosis of MM cell lines NCI-H929 and RPMI-8226. The effect of combined treatment on the inhibition of cell proliferation and induction of apoptosis was stronger than that of single-drug treatment. The combination of the two drugs also showed strong cytotoxicity in primary MM cells. Decitabine and anlotinib could down-regulate the level of c-Myc protein in MM cells and the c-Myc level in the combination group was the lowest.@*CONCLUSION@#Decitabine combined with anlotinib can effectively inhibit the proliferation and induce apoptosis of MM cells, which provides a certain experimental basis for the treatment of human MM.


Subject(s)
Humans , Multiple Myeloma/metabolism , Decitabine , Cell Line, Tumor , Apoptosis , Cell Proliferation
6.
Article in Chinese | WPRIM | ID: wpr-1045916

ABSTRACT

The target gene sequences of the novel coronaviruses obtained by sequencing were compared with the reference sequences to analyze the genetic variation of the two cases of the novel coronaviruses from Inner Mongolia Autonomous Region in 2022 and to explore the sources of infection. The results showed that the two sequences belonged to different evolutionary branches, Delta (AY.122) and Omicron (BA.1.1), respectively. hCoV-19/Inner Mongolia/IVDC-591/2022 had 48 single nucleotide polymorphisms on the genome sequences, sharing 40 nucleotide mutation sites with a Mongolian strain; hCoV-19/Inner Mongolia/IVDC-592/2022 genome shared 57 nucleotide mutation sites with a UK strain, and the nucleotide mutation site identity was 100% (57/57). Phylogenetic analysis showed that the target gene sequences were not directly related to domestic novel coronavirus sequences during the same period, but were related to isolates from Europe and Mongolia.


Subject(s)
Humans , COVID-19 , SARS-CoV-2/genetics , Phylogeny , Genome, Viral , Nucleotides , Sequence Analysis
7.
Article in Chinese | WPRIM | ID: wpr-1046239

ABSTRACT

The target gene sequences of the novel coronaviruses obtained by sequencing were compared with the reference sequences to analyze the genetic variation of the two cases of the novel coronaviruses from Inner Mongolia Autonomous Region in 2022 and to explore the sources of infection. The results showed that the two sequences belonged to different evolutionary branches, Delta (AY.122) and Omicron (BA.1.1), respectively. hCoV-19/Inner Mongolia/IVDC-591/2022 had 48 single nucleotide polymorphisms on the genome sequences, sharing 40 nucleotide mutation sites with a Mongolian strain; hCoV-19/Inner Mongolia/IVDC-592/2022 genome shared 57 nucleotide mutation sites with a UK strain, and the nucleotide mutation site identity was 100% (57/57). Phylogenetic analysis showed that the target gene sequences were not directly related to domestic novel coronavirus sequences during the same period, but were related to isolates from Europe and Mongolia.


Subject(s)
Humans , COVID-19 , SARS-CoV-2/genetics , Phylogeny , Genome, Viral , Nucleotides , Sequence Analysis
8.
Article in Chinese | WPRIM | ID: wpr-928674

ABSTRACT

OBJECTIVE@#To investigate the effect of PPP2R5C to the activity of Molt-4 cells in childhood acute T lymphocytic leukemia and its mechanism.@*METHODS@#The small interfering RNA (siRNA) technology targeting PPP2R5C gene was used to down-regulate the expression of PPP2R5C in Molt-4 cells. At the same time, a blank control group, a negative control group and a 17-DMAG group were set up. The cells in the negative control group were transfected with siRNA-NC, the cells in 17-DMAG group were treated with the HSP90 inhibitor 17-DMAG at a final concentration of 6.4 μmol/L for 48 h. Real-time fluorescent quantitative PCR (RT-qPCR) and Western blot were used to detect transfection efficiency; CCK-8 method was used to detect the proliferation activity of the cells in each group, EdU was used to detect the proliferation level of the cells in each group, flow cytometry was used to detect the cell cycle distribution ratio of the cells in each group, Annexin V-FITC/PI staining was used to detect the apoptosis of the cell, RT-qPCR and Western blot were used to detect the expression changes of heat shock protein 90 (HSP90) and glucocorticoid receptor (GR) of the cells in each group.@*RESULTS@#After Molt-4 cells were transfected with siRNA-PPP2R5C, the expression of PPP2R5C mRNA and protein in the cells were down-regulated significantly compared with those in the blank control group and the si-NC group (P<0.05); compared with cells in the blank control group and the si-NC group, the proliferation activity of the cells in the siRNA-PPP2R5C group and the 17-DMAG group significantly decreased (P<0.05), and the rate of EdU positive cells was significantly reduced (P<0.05); the proportion of the cells in G1 phase decreased while the proportion of the cells in G2 phase increased (P<0.05), the apoptosis rate of the cells also increased significantly (P<0.05); in addition, the expression of PPP2R5C mRNA and protein of the cells in siRNA-PPP2R5C group was significantly down-regulated compared with those in the blank control group and si-NC group (P<0.05). The expressions of PPP2R5C mRNA and protein in the 17-DMAG group were also significantly down-regulated compared with those in the blank control group and si-NC group (P<0.05).@*CONCLUSION@#Down-regulation of PPP2R5C gene expression can inhibit Molt-4 cell activity in childhood acute T lymphocytic leukemia, block the cells in G2 phase, and promote cell apoptosis, the mechanism may be related to the inhibition of HSP90-GR signaling pathway.


Subject(s)
Child , Humans , Apoptosis , Cell Line, Tumor , Cell Proliferation , Cell Survival , HSP90 Heat-Shock Proteins , Precursor T-Cell Lymphoblastic Leukemia-Lymphoma , RNA, Small Interfering , Receptors, Glucocorticoid
9.
Article in Chinese | WPRIM | ID: wpr-957593

ABSTRACT

Objective:To evaluate the clinical value of prenatal molecular diagnostic technology in preventing hereditary diseases through analysis of prenatal diagnostic characteristics in 22 monogenic skeletal disorders pedigrees.Methods:This study retrospectively analyzed prenatal molecular diagnostic results of 22 pedigrees with monogenic skeletal disorders who were admitted to Department of Osteoporosis and Bone Diseases in our hospital from January 2014 to July 2021.Results:Among 22 pedigrees, there were 10 pedigrees with X-linked hypophosphatemic rickets due to PHEX gene mutations, in which 8 fetuses were found to carry pathogenic variants; 6 pedigrees with osteopetrosis, including 3 cases of CLCN7 gene mutation, 2 TCIRG1 gene mutation, and 1 CTSK gene mutation, were detected to have 2 affected fetuses and 1 carrier. There were 4 cases of osteogenesis imperfecta, including 2 cases of COL1A1 gene mutation, 1 case of COL1A2 gene mutation, and 1 case of SERPINF1 gene mutation, in which 1 affected fetus and 1 carrier were found; only one case of osteoarthritis with mild chondrodysplasia caused by COL2A1 gene mutation was found to harbor pathogenic variant in fetus; 1 case of hypophosphatasia due to ALPL gene mutation was not detected to carry pathogenic variant in fetus. By the time of follow-up, all 12 affected fetuses were terminated, and the remaining 10 fetuses except for one case still in pregnancy were born in good condition.Conclusion:Prenatal molecular diagnosis may confirm whether the fetus carries pathogenic variants at the first and second trimesters. For monogenic skeletal disorders that comply with Mendel′s law of separation, prenatal diagnosis can be determined by calculating the probability of recurrence of offspring. In addition, for families with de novo mutations in the offspring, it is necessary to pay attention to whether there are mosaic mutations in the parents.

10.
Article in English | WPRIM | ID: wpr-901469

ABSTRACT

Background@#Bovine group A rotavirus (BoRVA) is a major cause of severe gastroenteritis in newborn dairy calves. Only one study has investigated the G and P genotypes among dairy calves in a few regions of China, which were G6 and P[5]. Therefore, data on the prevalence and molecular characteristics of BoRVA in dairy calves in China remains limited. @*Objectives@#The purpose of this study was to investigate the prevalence and molecular characteristics of BoRVA in dairy calves in China. @*Methods@#269 dairy calves diarrheic samples from 23 farms in six provinces in China were collected to detect BoRVA using reverse transcription polymerase chain reaction. @*Results@#71% of samples were determined to be BoRVA-positive. Two G genotypes (G6, G10) and two P genotypes (P[1], P[5]) were identified, and G6P[1] BoRVA was the predominant strain. Moreover, the VP7 and VP4 gene sequences of these dairy calf BoRVA strains revealed abundant genetic diversity. Interestingly, eight out of 17 complete G6 VP7 sequences were clustered into G6 lineage VI and analysis showed the strains were closely related to Chinese yak BoRVA strains. @*Conclusions@#The results of this study show that BoRVA circulates widely among dairy calves in China, and the dominant genotype in circulation is G6P[1], first report on molecular characteristics of complete P[5] VP4 genes in chinese dairy calves. These results will help us to further understand the prevalence and genetic evolution of BoRVA among dairy calves in China and, thus, prevent the disease more effectively.

11.
Chinese Journal of Geriatrics ; (12): 237-240, 2021.
Article in Chinese | WPRIM | ID: wpr-884875

ABSTRACT

Objective:To implement an intervention with community-dwelling middle-aged and elderly people through a new science promotion approach, and to evaluate changes in the level of bone health awareness.Methods:From April 2017 to June 2017, 200 community-dwelling middle-aged and elderly people aged 50 years and over were randomly included.They were divided into the intervention group receiving a new science promotion intervention(n=100, with 50 males and 50 females)and the control group(n=100, with 50 males and 50 females). Baseline and follow-up assessments of bone health awareness were performed before and after the one-year intervention.A questionnaire survey on preferences for different types of science promotion articles in WeChat accounts was conducted.Differences in scores for intervention effects before and after intervention were compared between the two groups.Potential influencing factors for the scale score were examined by a multi-factor analysis.Results:After one year of intervention, scores for intervention effects were higher in the intervention group than in the control group( P<0.001). In the intervention group, scores were higher after intervention than before intervention( P<0.001). In the control group, scores after follow-up were slightly higher than those at baseline(29.4±11.4 vs.27.9±10.1, P<0.001). The increase in scores before and after intervention was greater in the intervention group than in the control group( P<0.001). Baseline score, group designation, history of drinking and diabetes impacted the scores in middle-aged and elderly women, while other factors did not.Most middle-aged and older people preferred texts illustrated with pictures, and older people were more receptive to videos. Conclusions:The new science promotion method is beneficial to bone health management, can improve bone health awareness in middle-aged and elderly people.

12.
Article in English | WPRIM | ID: wpr-893765

ABSTRACT

Background@#Bovine group A rotavirus (BoRVA) is a major cause of severe gastroenteritis in newborn dairy calves. Only one study has investigated the G and P genotypes among dairy calves in a few regions of China, which were G6 and P[5]. Therefore, data on the prevalence and molecular characteristics of BoRVA in dairy calves in China remains limited. @*Objectives@#The purpose of this study was to investigate the prevalence and molecular characteristics of BoRVA in dairy calves in China. @*Methods@#269 dairy calves diarrheic samples from 23 farms in six provinces in China were collected to detect BoRVA using reverse transcription polymerase chain reaction. @*Results@#71% of samples were determined to be BoRVA-positive. Two G genotypes (G6, G10) and two P genotypes (P[1], P[5]) were identified, and G6P[1] BoRVA was the predominant strain. Moreover, the VP7 and VP4 gene sequences of these dairy calf BoRVA strains revealed abundant genetic diversity. Interestingly, eight out of 17 complete G6 VP7 sequences were clustered into G6 lineage VI and analysis showed the strains were closely related to Chinese yak BoRVA strains. @*Conclusions@#The results of this study show that BoRVA circulates widely among dairy calves in China, and the dominant genotype in circulation is G6P[1], first report on molecular characteristics of complete P[5] VP4 genes in chinese dairy calves. These results will help us to further understand the prevalence and genetic evolution of BoRVA among dairy calves in China and, thus, prevent the disease more effectively.

13.
Clinics ; 76: e2942, 2021. tab, graf
Article in English | LILACS | ID: biblio-1345813

ABSTRACT

OBJECTIVES: This study assessed the protective effect of calcium dobesilate against contrast-induced nephropathy (CIN) after coronary angiography (CAG) or percutaneous coronary intervention (PCI) in patients with diabetes and chronic kidney disease (CKD). METHODS: A total of 130 patients with diabetes and CKD estimated glomerular filtration rate: 30-90 mL/min/1.73m2 were enrolled and included in the analysis. They were divided into experimental (n=65) and control groups (n=65). Patients in the experimental group were administered oral calcium dobesilate (500 mg) three times daily for 2 days before and 3 days after the procedure. The serum creatinine (SCr), cystatin C (Cys C), and neutrophil gelatinase-associated lipocalin (NGAL) levels were measured before and after the procedure. RESULTS: The mean SCr level at 24h after the procedure was found to be significantly lower in the experimental group than in the control group (79.1±19.6 μmol/L vs. 87.0±19.3 μmol/L, p=0.023). However, the Cys C and NGAL levels were not significantly different between the two groups at all measurement time points (all p>0.05). The incidence of CIN defined by the SCr level was significantly lower in the experimental group than in the control group (3 [4.6%] vs. 13 [20.0%], p=0.017). However, the incidence of CIN defined by the Cys C level was not statistically different between the two groups (7 [10.8%] vs. 7 [10.8%], p=1.000). CONCLUSIONS: This study revealed that calcium dobesilate has no preventive effect against CIN in patients with diabetes and CKD.


Subject(s)
Humans , Calcium Dobesilate , Diabetes Mellitus , Renal Insufficiency, Chronic/complications , Percutaneous Coronary Intervention , Kidney Diseases , Biomarkers , Coronary Angiography , Contrast Media/adverse effects , Creatinine , Glomerular Filtration Rate
14.
Article in Chinese | WPRIM | ID: wpr-799819

ABSTRACT

Objective@#To analyze the nursing methods and effects of early rehabilitation and health management for hypertensive patients with cerebral infarction and hemiplegia.@*Methods@#Totally 86 patients with hypertension and cerebral infarction with hemiplegia were randomized to a random number table, with 43 patients in each group. The control group received routine nursing, and the observation group underwent early rehabilitation health management care, and the recovery of the two groups was compared.@*Results@#After treatment, the patient medical research committee score (MRC) in the observation group was (50.25±3.37) points, higher than the control group (40.28±3.38) points, and the Fugl-Meyer score (upper limb) of the observation was (65.44 ± 1.08) points, which was higher than that of the control group (53.38 ±1.22) points, and the Fugl-Meyer score (lower limb) was (28.15±1.13) points, significantly higher than the control group (26.52±1.17) points, the living activity ability Barthel index (88.65±4.73) was significantly higher than the control group (80.27 ±4.69)( t values were 6.571-48.536, P < 0.01). After nursing, the scores of memory and thinking, emotion, communication, mobility, daily living ability, hand function, strength and participation in the quality of life in the observation group were (74.58 ±3.27) points, (75.87 ±4.06) points, (72.31 ±5.08) points, (72.13 ±5.06) points, (69.75 ±4.41) points, (78.56 ±5.13) points, (64.17±3.50) points and (68.95±5.03) points. The scores of the observation group were significantly higher than those of the control group, which were (69.27 ±3.66) points, (66.35 ±4.17) points, (63.59±5.41) points, (58.95±4.22) points, (59.67±4.30) points, (63.49±5.07) points, (59.74±3.15) points, (54.09±5.10) points (t values were 6.144-13.701, P < 0.05).@*Conclusion@#Early rehabilitation health management and nursing for hypertensive patients with cerebral infarction and hemiplegia is helpful to improve the limb motor function and life activity ability of patients, and can significantly improve the quality of life of patients, which is worthy of promotion.

15.
Article in Chinese | WPRIM | ID: wpr-864425

ABSTRACT

Objective:To analyze the nursing methods and effects of early rehabilitation and health management for hypertensive patients with cerebral infarction and hemiplegia.Methods:Totally 86 patients with hypertension and cerebral infarction with hemiplegia were randomized to a random number table, with 43 patients in each group. The control group received routine nursing, and the observation group underwent early rehabilitation health management care, and the recovery of the two groups was compared.Results:After treatment, the patient medical research committee score (MRC) in the observation group was (50.25±3.37) points, higher than the control group (40.28±3.38) points, and the Fugl-Meyer score (upper limb) of the observation was (65.44 ± 1.08) points, which was higher than that of the control group (53.38 ±1.22) points, and the Fugl-Meyer score (lower limb) was (28.15±1.13) points, significantly higher than the control group (26.52±1.17) points, the living activity ability Barthel index (88.65±4.73) was significantly higher than the control group (80.27 ±4.69)( t values were 6.571-48.536, P < 0.01). After nursing, the scores of memory and thinking, emotion, communication, mobility, daily living ability, hand function, strength and participation in the quality of life in the observation group were (74.58 ±3.27) points, (75.87 ±4.06) points, (72.31 ±5.08) points, (72.13 ±5.06) points, (69.75 ±4.41) points, (78.56 ±5.13) points, (64.17±3.50) points and (68.95±5.03) points. The scores of the observation group were significantly higher than those of the control group, which were (69.27 ±3.66) points, (66.35 ±4.17) points, (63.59±5.41) points, (58.95±4.22) points, (59.67±4.30) points, (63.49±5.07) points, (59.74±3.15) points, (54.09±5.10) points ( t values were 6.144-13.701, P < 0.05). Conclusion:Early rehabilitation health management and nursing for hypertensive patients with cerebral infarction and hemiplegia is helpful to improve the limb motor function and life activity ability of patients, and can significantly improve the quality of life of patients, which is worthy of promotion.

16.
Article in Chinese | WPRIM | ID: wpr-870079

ABSTRACT

Proximal symphalangism is a rare hereditary bone disease caused by NOG or GDF5 gene mutations, of which NOG gene mutations account for the majority. A family of SYM1 was reported. Patient was a man with proximal interphalangeal joint stiffness of bilateral fingers for more than 20 years. Combined with laboratory and imaging examinations, the patient was diagnosed with proximal symphalangism. 4 other subjects in this family are affected. The detection of NOG gene mutations of the proband and his mother and son showed that there were heterozygous missense mutations in exon 1, c.667C>T, resulting in p. Pro223Ser. The pathogenesis, clinical and imaging manifestations of SYM1 were reviewed in combination with literature to improve clinicians′ understanding of the disease.

17.
Article in Chinese | WPRIM | ID: wpr-755737

ABSTRACT

Objective Proteus syndrome is a rare disease. The aim of the present study was to analyze the clinical characteristics and gene mutations of Proteus syndrome with a case report and relevant literature review. Methods Clinical data of the patient with Proteus syndrome were collected in detail and biochemical measurements and radiological examinations were conducted. Tissues from phalanges with lesions were obtained to extract DNA, and Sanger sequencing of AKT1 gene was carried on. The pathogenic mutation was further tested in peripheral blood samples of the patient, his parents and 250 healthy volunteers. Orthopaedic surgery was performed on the affected limbs of the patient. Results The patient was presented with progressive overgrowth of the right extremity, scoliosis, cerebral connective tissue nevus and lower extremity venous. A heterozygous mutation of AKT1 gene (c. 49G>A) was identified in DNA extracted from the affected bone tissue of the patient, but not be found in genomic DNA of peripheral blood samples from the patient, his parents and 250 healthy volunteers. Movement function of the affected limb improved significantly after the operations. Conclusions The prominent features of Proteus syndrome are overgrowth of one extremity and cerebral connective tissue nevus. A mosaic somatic mutation of AKT1 gene is one of the pathogenic mutations for Proteus syndrome, and orthopedic surgery may be a good way to improve symptoms of the disease.

18.
Article in Chinese | WPRIM | ID: wpr-753162

ABSTRACT

To explore influence of ultrasound‐guided lauromacrogol foam sclerotherapy on peripheral blood levels of counting of endothelial cells (CEC) , endothelin (ET)‐1 and nitric oxide (NO) in patients with sa‐phenous vein varicosis .Methods : A total of 90 patients with saphenous vein varicosis were randomly and equally di‐vided into lauromacrogol group (received ultrasound‐guided lauromacrogol foam sclerotherapy ) and routine treat‐ment group (received routine stripping ).Peripheral blood levels of CEC , ET‐1 and NO were observed and com‐pared between two groups before and after surgery , and therapeutic effect and incidence of complications were eval‐uated.Results : Compared with routine treatment group , there were significant reductions in surgery time [ (81. 79 ± 16.88) min vs .(40.55 ± 10. 19) min] , hospitalization time [(3.94 ± 1.36) d vs.(2. 17 ± 1.31) d] and hospital‐ization fee [ (7640. 15 ± 1025.11) RMB vs.(3998.89 ± 910. 67 ) RMB ] in lauromacrogol group , P= 0.001 all. Compared with routine treatment group after surgery , there were significant reductions in incidence rate of total complications (17.78% vs .4. 44%) , percentage of patient's condition class IV (17. 78% vs.4.44%) , peripheral blood levels of CEC [ (5562. 48 ± 1194. 73)/L vs.(4655.87 ± 1209. 88)/L] and ET‐1 [ (70. 32 ± 10.30) ng/L vs. (62.95 ± 13.78) ng/L] , and significant rise in percentage of patient’ s condition class I (6.67% vs.25. 00%) and peripheral blood NO level [(1.27 ± 0.42) μmol/L vs.(1. 59 ± 0.51) μmol/L] in lauromacrogol group , P<0. 05 or<0. 01. Conclusion : Ultrasound‐ guided lauromacrogol foam sclerotherapy can significantly increase therapeutic effect , improve vascular endothelial function in patients with saphenous vein varicosis .And its complications are few .

19.
Article in Chinese | WPRIM | ID: wpr-774552

ABSTRACT

The study aims at taking risk assessment of pesticide residues in ginseng and high risk pesticides were picked up in order to provide a scientific basis for the establishment of maximum residue limits(MRLs) for pesticides in ginseng. Residues of 246 pesticides in 80 ginseng samples collected from different place were detected by GC-MS/MS and LC-MS/MS method. Acute and chronic intake risks were evaluated by using deterministic approach, and the matrix ranking developed by the Veterinary Residues Committee of the United Kingdom was referred to assess risk score of pesticides. The 25 kinds of pesticide residues were detected in ginseng samples, the detection rate of quintozene(PCNB) was 78%, which was the most frequently detectable pesticide. The chronic dietary intake risks of 25 pesticide residues expressed as %ADI were 0.00%-2.6%, and their acute dietary intake risks expressed as %ARfD were 0.00%-104.2%. Among them the acute dietary intake risks of PCNB was 104%,which was the highest. The 25 pesticides were divided into 3 groups by risk score, high risk group(4 pesticides), medium risk group(6 pesticides), and low risk group(15 pesticides). Hexachlorobenzene, phorate, PCNB and BHC were classified as high risk group. It is necessary and effective to establish the limit of residual organic chlorine in ginseng from Chinese Pharmacopoeia(2015 edition). MRLs for PCNB and hexachlorobenzene in ginseng were proposed to be revised based on the results of risk assessment.


Subject(s)
Chromatography, Liquid , Drugs, Chinese Herbal , Reference Standards , Panax , Chemistry , Pesticide Residues , Risk Assessment , Tandem Mass Spectrometry
20.
Article in Chinese | WPRIM | ID: wpr-804965

ABSTRACT

Objective@#To evaluate the effect of vaccine and provide scientific evidence for prevention and control of influenza virus, this study aims to analyze the characteristics of genomic variation of influenza A (H1N1) pdm09 viruses in Inner Mongolia.@*Methods@#The 16 viral strains were selected randomly according to the influenza A (H1N1) pdm09 viruses isolated from network laboratories in Inner Mongolia, 2013-2017. The hemagglutinin(HA) and neuraminidase(NA) genomic sequences were obtained by using RT-PCR and sequencing, and genomic characteristics were analyzed via bioinformatics.@*Results@#Compared to the A/California/07/2009 vaccine strain, the relatively obvious variation of antigen of influenza A (H1N1) pdm09 viruses in Inner Mongolia since 2014, and the vaccine provided a poor protection to influenza A (H1N1) pdm09 virus infection, while the A/Michigan/45/2015 vaccine strain recommended by WHO recently has a satisfactory protective effects. Several viral isolates from Inner Mongolia increased the binding force of virus in human upper respiratory tract because of D222N and D222G substitution within HA. E119K and H275Y substitution within NA gene of viral strains, suggesting that the viruses were resistant to NA inhibitors.@*Conclusions@#The influenza A (H1N1) pdm09 viruses had gradual variations as time went on, and the WHO recommended vaccine was relatively lagging. Virulent strains and drug-resistant strains appeared in the population, and the genetic characteristics of influenza virus surveillance should be strengthened to find the new mutants of virus in time, which provide evidence for the prevention and control of influenza.

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