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1.
International Eye Science ; (12): 1179-1184, 2023.
Article in Chinese | WPRIM | ID: wpr-976492

ABSTRACT

AIM: To study the effects of long-term use of clozapine on tear film stability and ocular surface tissue structure.METHODS: Case-control study was conducted on 45 patients(group 1)who were diagnosed with schizophrenia and treated with clozapine for 3.45±0.72a between March 2021 and December 2021. Another 45 healthy subjects(group 2)served as controls, whose demographic characteristics were similar to those of group 1. Patients' dry eye symptoms were investigated using OSDI questionnaire, tear secretion was detected by the Schirmer I test, ocular surface damage was assessed by the ocular surface staining score, and comprehensive ophthalmic examination was performed on all patients through LipiView ocular surface interferometer, ocular surface integrated analyzer, corneal confocal microscope and slit lamp photographic system.RESULTS: Slit-lamp photography showed diffuse grayish-white spot-like opacification in the corneal stroma of group 1, accompanied by brown star-like opacification in the center of the anterior capsule of the lens. OSDI scores were 38.00(31.50, 48.50)and 15.00(9.00, 19.50)in the two groups respectively. Schirmer test showed that the group 1 was 5.27±2.18mm/5min, while group 2 was 15.62±3.05mm/5min. Corneal fluorescein staining score: 4.00(2.50, 5.00)for group 1 and 1.00(0.00, 1.50)for group 2. The lissamine green staining score for the conjunctiva was 9.00(6.50, 10.00)and 3.00(2.00, 3.50)for the two groups, respectively. LipiView detected lipid layer thickness(LLT), suggesting that the results of group 1 and group 2 were similar, respectively 75.91±15.51 and 77.24±12.11nm; and the results were similar for the lid gland deficiency score, with 1.37±0.26 and 1.29±0.31 points, respectively. The mean tear meniscus height in group 1 was 0.13±0.06mm, which was lower than 0.23±0.04mm of group 2. Non-invasive breakup time(NIBUT)was 6.04±2.62 and 11.4±2.74s in group 1 and group 2 respectively. OSDI score, Schirmer Ⅰ test, ocular surface staining score, tear meniscus height and NIBUT were significantly different between the two groups(P<0.05). Confocal corneal microscopy suggested decreased corneal nerve fiber density with stromal layer inflammatory cell infiltration and pigmentation in group 1.CONCLUSION: The antipsychotic drug clozapine can induce dry eye with a range of ocular surface injuries such as corneal pigmentation, and patients who taking such drugs should be routinely examined by an ophthalmologist.

2.
Article in English | WPRIM | ID: wpr-972327

ABSTRACT

@#BACKGROUND: To investigate the effects of early standardized enteral nutrition (EN) on the cross-sectional area of erector spine muscle (ESMcsa), plasma growth differentiation factor-15 (GDF-15), and 28-day mortality of acute exacerbation of chronic obstructive pulmonary disease (AECOPD) patients with invasive mechanical ventilation (MV). METHODS: A total of 97 AECOPD patients with invasive MV were screened in the ICUs of the First People's Hospital of Lianyungang. The conventional EN group (stage I) and early standardized EN group (stage II) included 46 and 51 patients, respectively. ESMcsa loss and GDF-15 levels on days 1 and 7 of ICU admission and 28-day survival rates were analyzed. RESULTS: On day 7, the ESMcsa of the early standardized EN group was significantly higher than that of the conventional EN group, while the plasma GDF-15 levels were significantly lower than those in the conventional EN group (ESMcsa: 28.426±6.130 cm2 vs. 25.205±6.127 cm2; GDF-15: 1661.608±558.820 pg/mL vs. 2541.000±634.845 pg/mL; all P<0.001]. The 28-day survival rates of the patients in the early standardized EN group and conventional EN group were 80.40% and 73.90%, respectively (P=0.406). CONCLUSION: ESMcsa loss in AECOPD patients with MV was correlated with GDF-15 levels, both of which indicated acute muscular atrophy and skeletal muscle dysfunction. Early standardized EN may prevent acute muscle loss and intensive care unit-acquired weakness (ICU-AW) in AECOPD patients.

3.
Article in Chinese | WPRIM | ID: wpr-961826

ABSTRACT

ObjectiveTo explore a new model for lens-induced myopia (LIM) in mice and describe the changes of diopter and ocular biological parameters. MethodsTwenty-seven 21-day-old C57BL/6 mice were divided into three groups (ratio, 5:1:3): LIM group, plano lens (PL) group and normal control (N) group. The right eyes were intervened while the left eyes were left as control. The refraction was detected with retinoscopy after the pupils were dilated with compound topicamide and ocular axial length was measured by optical coherence tomography (OCT) in vivo at baseline and 1, 2, 3, and 4 weeks after the intervention. Paired t test was performed between left and right eyes within each group. Welch's ANOVA was used for comparison among the three groups. When the difference was statistically significant, the Dunnett's T3 was used to correct P value for pairwise comparison. ResultsAfter 2 weeks of defocus induction, the refraction of the intervened eye in LIM group shifted to myopia about (-2.55±1.54) D(t=6.430, P<0.000 1), and the ocular axial length (AL) increased about (0.051±0.024) mm(t=7.837, P<0.000 1). The difference of interocular change in refraction in LIM group compared with PL group and N group was -2.30 D (P=0.014) and -2.55 D (P<0.000 1), respectively. The difference of interocular change in AL in LIM group was 0.048 mm (P<0.000 1) and 0.047 mm (P<0.000 1) compared with that in PL group and N group, respectively. With the extension of intervention time, the degree of myopia drift increased. ConclusionIn this study, a clasp-based and detachable LIM model was described and validated. After 2 weeks of intervention, the refraction shifted significantly toward myopia and the AL increased significantly. The LIM model is simple to construct and can provide a reference for the model construction of animal experiments in myopia research.

4.
Journal of Clinical Hepatology ; (12): 175-180, 2023.
Article in Chinese | WPRIM | ID: wpr-960688

ABSTRACT

As a novel mode of cell death, pyroptosis plays an important role in nonalcoholic fatty liver disease (NAFLD), and the research on pyroptosis may help to explore new therapeutic targets for NAFLD. This article reviews the advances in pyroptosis from the research background and mechanism of pyroptosis and the role of pyroptosis in NAFLD and elaborates on the pyroptosis execution molecules such as GSDME and caspase-11 and the function of inflammasomes including AIM2.

5.
Article in Chinese | WPRIM | ID: wpr-971100

ABSTRACT

OBJECTIVE@#To observe the clinical significance of translocator proteins (TSPO) gene in the treatment of FLT3-ITD/DNMT3A R882 double-mutated acute myeloid leukemia (AML).@*METHODS@#Seventy-six patients with AML hospitalized in the Department of Hematology of the Affiliated People's Hospital of Ningbo University from June 2018 to June 2020 were selected, including 34 patients with FLT3-ITD mutation, 27 patients with DNMT3A R882 mutation, 15 patients with FLT3-ITD/DNMT3A R882 double mutation, as well as 19 patients with immune thrombocytopenia (ITP) hospitalized during the same period as control group. RNA was routinely extracted from 3 ml bone marrow retained during bone puncture, and TSPO gene expression was detected by transcriptome sequencing (using 2-deltadeltaCt calculation).@*RESULTS@#The expression of TSPO gene in FLT3-ITD group and DNMT3A R882 group at first diagnosis was 2.02±1.04 and 1.85±0.76, respectively, which were both higher than 1.00±0.06 in control group, but the differences were not statistically significant (P=0.671, P=0.821). The expression of TSPO gene in the FLT3-ITD/DNMT3A R882 group was 3.98±1.07, wich was significantly higher than that in the FLT3-ITD group and DNMT3A R882 group, the differences were statistically significant (P=0.032, P=0.021). The expression of TSPO gene in patients who achieved complete response after chemotherapy in the FLT3-ITD/DNMT3A R882 group was 1.19±0.87, which was significantly lower than that at first diagnosis, and the difference was statistically significant (P=0.011).@*CONCLUSION@#TSPO gene may be used as an indicator of efficacy in FLT3-ITD /DNMT3A R882 double-mutated AML.


Subject(s)
Humans , DNA (Cytosine-5-)-Methyltransferases/genetics , DNA Methyltransferase 3A , Mutation , Leukemia, Myeloid, Acute/drug therapy , Nucleophosmin , Prognosis , fms-Like Tyrosine Kinase 3/genetics , Receptors, GABA/therapeutic use
6.
Article in Chinese | WPRIM | ID: wpr-971032

ABSTRACT

OBJECTIVES@#To study the clinical features of children with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) Omicron variant infection.@*METHODS@#A retrospective analysis was performed on the medical data of 201 children with coronavirus disease 2019 (COVID-19) who were hospitalized and diagnosed with SARS-CoV-2 Omicron variant infection in Quanzhou First Hospital from March 14 to April 7, 2022. Among the 201 children, there were 34 children with asymptomatic infection and 167 with symptomatic infection. The two groups were compared in terms of clinical features, results of experimental examinations, and outcome.@*RESULTS@#Of all the 201 children, 161 (80.1%) had a history of exposure to COVID-19 patients and 132 (65.7%) had a history of COVID-19 vaccination. Among the 167 children with symptomatic infections, 151 had mild COVID-19 and 16 had common COVID-19, with no severe infection or death. Among the 101 children who underwent chest CT examination, 16 had ground glass changes and 20 had nodular or linear opacities. The mean time to nucleic acid clearance was (14±4) days for the 201 children with Omicron variant infection, and the symptomatic infection group had a significantly longer time than the asymptomatic infection group [(15±4) days vs (11±4) days, P<0.05]. The group vaccinated with one or two doses of COVID-19 vaccine had a significantly higher positive rate of IgG than the group without vaccination (P<0.05). The proportions of children with increased blood lymphocyte count in the symptomatic infection group was significantly lower than that in the asymptomatic infection group (P<0.05). Compared with the asymptomatic infection group, the symptomatic infection group had significantly higher proportions of children with increased interleukin-6, increased fibrinogen, and increased D-dimer (P<0.05).@*CONCLUSIONS@#Most of the children with Omicron variant infection have clinical symptoms, which are generally mild. The children with symptomatic infection are often accompanied by decreased or normal blood lymphocyte count and increased levels of interleukin-6, fibrinogen, and D-dimer, with a relatively long time to nucleic acid clearance. Some of them had ground glass changes on chest CT.


Subject(s)
Child , Humans , Asymptomatic Infections , COVID-19/virology , COVID-19 Vaccines , Fibrinogen , Interleukin-6 , Nucleic Acids , Retrospective Studies , SARS-CoV-2
7.
Chinese Journal of Stomatology ; (12): 281-286, 2023.
Article in Chinese | WPRIM | ID: wpr-970788

ABSTRACT

Peri-implantitis (PI) has been defined as an inflammatory lesion of the mucosa surrounding an endosseous implant and with progressive loss of supporting peri-implant bones. In recent years, histopathological differences between PI and periodontitis of natural teeth had been described in animal experiments and a certain number of human experiments. In this paper, we review the histopathological differences between PI and periodontitis reported in the existing literature and try to find the differences in the occurrence and progression of these two diseases. Overall, inflammatory cell infiltrate (ICT) is more extensive in PI than in periodontitis, extending to the alveolar ridge, with dense infiltration of plasma cells, lymphocytes, macrophages, polymorphonuclear leukocytes and a greater number of osteoclasts in the connective tissue, but with less vascular density within ICT than in periodontitis. In addition, foreign bodies are found in PI lesions. The histopathological differences between the two diseases in terms of inflammatory infiltration, vascularity, bone loss, and foreign bodies could partially explain the more rapid progression of PI than periodontitis, suggesting that PI should be taken seriously by physicians. Early diagnosis and treatment are essential to control the progression of PI. In addition, targeted therapy against specific inflammatory cells may become a new direction for PI treatment; reducing titanium particles released into peri-implant tissue by friction or electrochemical corrosion may help to prevent PI.

8.
Article in Chinese | WPRIM | ID: wpr-970606

ABSTRACT

Atherosclerosis(AS) is caused by impaired lipid metabolism, which deposits lipids in the intima, causes vascular fibrosis and calcification, and then leads to stiffening of the vascular wall. Hyperlipidemia(HLP) is one of the key risk factors for AS. Based on the theory of "nutrients return to the heart and fat accumulates in the channels", it is believed that the excess fat returning to the heart in the vessels is the key pathogenic factor of AS. The accumulation of fat in the vessels over time and the blood stasis are the pathological mechanisms leading to the development of HLP and AS, and "turbid phlegm and fat" and "blood stasis" are the pathological products of the progression of HLP into AS. Didang Decoction(DDD) is a potent prescription effective in activating blood circulation, removing blood stasis, resolving turbidity, lowering lipids, and dredging blood vessels, with the functions of dispelling stasis to promote regeneration, which has certain effects in the treatment of atherosclerotic diseases. This study employed high-performance liquid chromatography-quadrupole time-of-flight tandem mass spectrometry(HPLC-Q-TOF-MS/MS) to screen the main blood components of DDD, explored the targets and mechanisms of DDD against AS and HLP with network pharmacology, and verified the network pharmacological results by in vitro experiments. A total of 231 blood components of DDD were obtained, including 157 compounds with a composite score >60. There were 903 predicted targets obtained from SwissTargetPrediction and 279 disease targets from GeneCards, OMIM, and DisGeNET, and 79 potential target genes of DDD against AS and HLP were obtained by intersection. Gene Ontology(GO) analysis suggested that DDD presumably exerted regulation through biological processes such as cholesterol metabolism and inflammatory response, and Kyoto Encyclopedia of Genes and Genomes(KEGG) analysis suggested that signaling pathways included lipid and atherosclerosis, insulin resistance, chemo-carcinogenesis-receptor activation, and AGE-RAGE signaling pathways in diabetic complications. In vitro experiments showed that DDD could reduce free fatty acid-induced lipid accumulation and cholesterol ester content in L02 cells and improve cellular activity, which might be related to the up-regulation of the expression of PPARα, LPL, PPARG, VEGFA, CETP, CYP1A1, and CYP3A4, and the down-regulation of the expression of TNF-α and IL-6. DDD may play a role in preventing and treating AS and HLP by improving lipid metabolism and inflammatory response, and inhibiting apoptosis with multi-component, multi-target, and multi-pathway characteristics.


Subject(s)
Humans , Hyperlipidemias/drug therapy , Tandem Mass Spectrometry , Chromatography, High Pressure Liquid , Network Pharmacology , Nutrients , Atherosclerosis/prevention & control , Lipids , Drugs, Chinese Herbal/pharmacology , Molecular Docking Simulation
9.
Article in Chinese | WPRIM | ID: wpr-970476

ABSTRACT

This study aimed to investigate the effects of nanoparticles PLGA-NPs and mesoporous silicon nanoparticles(MSNs) of different stiffness before and after combination with menthol or curcumol on the mechanical properties of bEnd.3 cells. The particle size distributions of PLGA-NPs and MSNs were measured by Malvern particle size analyzer, and the stiffness of the two nanoparticles was quantified by atomic force microscopy(AFM). The bEnd.3 cells were cultured in vitro, and the cell surface morphology, roughness, and Young's modulus were examined to characterize the roughness and stiffness of the cell surface. The changes in the mechanical properties of the cells were observed by AFM, and the structure and expression of cytoskeletal F-actin were observed by a laser-scanning confocal microscope. The results showed that both nanoparticles had good dispersion. The particle size of PLGA-NPs was(98.77±2.04) nm, the PDI was(0.140±0.030), and Young's modulus value was(104.717±8.475) MPa. The particle size of MSNs was(97.47±3.92) nm, the PDI was(0.380±0.016), and Young's modulus value was(306.019±8.822) MPa. The stiffness of PLGA-NPs was significantly lower than that of MSNs. After bEnd.3 cells were treated by PLGA-NPs and MSNs separately, the cells showed fine pores on the cell surface, increased roughness, decreased Young's modulus, blurred and broken F-actin bands, and reduced mean gray value. Compared with PLGA-NPs alone, PLGA-NPs combined with menthol or curcumol could allow deepened and densely distributed surface pores of bEnd.3 cells, increase roughness, reduce Young's modulus, aggravate F-actin band breakage, and diminish mean gray value. Compared with MSNs alone, MSNs combined with menthol could allow deepened and densely distributed surface pores of bEnd.3 cells, increase roughness, reduce Young's modulus, aggravate F-actin band breakage, and diminish mean gray value, while no significant difference was observed in combination with curcumol. Therefore, it is inferred that the aromatic components can increase the intracellular uptake and transport of nanoparticles by altering the biomechanical properties of bEnd.3 cells.


Subject(s)
Animals , Mice , Menthol/pharmacology , Actins/metabolism , Endothelial Cells/metabolism , Nanoparticles/chemistry
10.
Article in Chinese | WPRIM | ID: wpr-969841

ABSTRACT

This study collected epidemic data of COVID-19 in Zhengzhou from January 1 to January 20 in 2022. The epidemiological characteristics of the local epidemic in Zhengzhou High-tech Zone caused by the SARS-CoV-2 Delta variant were analyzed through epidemiological survey and big data analysis, which could provide a scientific basis for the prevention and control of the Delta variant. In detail, a total of 276 close contacts and 599 secondary close contacts were found in this study. The attack rate of close contacts and secondary close contacts was 5.43% (15/276) and 0.17% (1/599), respectively. There were 10 confirmed cases associated with the chain of transmission. Among them, the attack rates in close contacts of the first, second, third, fourth and fifth generation cases were 20.00% (5/25), 17.86% (5/28), 0.72% (1/139) and 14.81% (4/27), 0 (0/57), respectively. The attack rates in close contacts after sharing rooms/beds, having meals, having neighbor contacts, sharing vehicles with the patients, having same space contacts, and having work contacts were 26.67%, 9.10%, 8.33%, 4.55%, 1.43%, and 0 respectively. Collectively, the local epidemic situation in Zhengzhou High-tech Zone has an obvious family cluster. Prevention and control work should focus on decreasing family clusters of cases and community transmission.


Subject(s)
Humans , SARS-CoV-2 , COVID-19 , Epidemics , Incidence
11.
Chinese Journal of Cardiology ; (12): 278-287, 2023.
Article in Chinese | WPRIM | ID: wpr-969775

ABSTRACT

Objective: Hyperlipidemia is closely related to premature acute myocardial infarction (AMI). The present study was performed to explore the correlation between various blood lipid components and the risk of premature AMI. Methods: This is a cross-sectional retrospective study. Consecutive patients with acute ST-segment elevation myocardial infarction (STEMI), who completed coronary angiography from October 1, 2020 to September 30, 2022 in our hospital, were enrolled and divided into premature AMI group (male<55 years old, female<65 years old) and late-onset AMI group. Total cholesterol (TC), triglyceride (TG), low density lipoprotein cholesterol (LDL-C), high density lipoprotein cholesterol (HDL-C), non-HDL-C, lipoprotein (a) (Lp (a)), apolipoprotein B (ApoB), apolipoprotein A-1 (ApoA-1), non-HDL-C/HDL-C and ApoB/ApoA-1 were analyzed. The correlation between the above blood lipid indexes and premature AMI was analyzed and compared by logistic regression, restricted cubic spline and receiver operating characteristic curve (ROC). Results: A total of 1 626 patients with STEMI were enrolled in this study, including 409 patients with premature AMI and 1 217 patients with late-onset AMI. Logistic regression analysis showed that the risk of premature AMI increased significantly with the increase of TG, non-HDL-C/HDL-C, non-HDL-C, ApoB/ApoA-1, TC and ApoB quintiles; while LDL-C, ApoA-1 and Lp (a) had no significant correlation with premature AMI. The restricted cubic spline graph showed that except Lp (a), LDL-C, ApoA-1 and ApoB/ApoA-1, other blood lipid indicators were significantly correlated with premature AMI. The ROC curve showed that TG and non-HDL-C/HDL-C had better predictive value for premature AMI. Inconsistency analysis found that the incidence and risk of premature AMI were the highest in patients with high TG and high non-HDL-C/HDL-C. Conclusion: TG, non-HDL-C/HDL-C and other blood lipid indexes are significantly increased in patients with premature AMI, among which TG is the parameter, most closely related to premature AMI, and future studies are needed to explore the impact of controlling TG on incidence of premature AMI.


Subject(s)
Humans , Male , Female , Middle Aged , Aged , Cross-Sectional Studies , Cholesterol, LDL , Retrospective Studies , ST Elevation Myocardial Infarction , Apolipoprotein A-I , Myocardial Infarction , Cholesterol , Apolipoproteins B , Triglycerides , Cholesterol, HDL , Lipids , Lipoproteins
12.
Journal of Geriatric Cardiology ; (12): 309-313, 2023.
Article in English | WPRIM | ID: wpr-982189

ABSTRACT

The main management principle for patients with coronary thrombus should be "more removal and less implantation". Routine thrombus aspiration (TA) is ineffective for intracoronary thrombus or high residual thrombus burden after TA and may result in a refractory coronary thrombus. It is unwise to implant a stent in the vessel with high residual thrombus, which is associated with no-reflow, impaired microvascular perfusion, and consequently worse clinical outcomes. Therefore, increasing the efficiency of TA during percutaneous coronary intervention procedures, especially under some conditions of refractory coronary thrombus, is very important to restore myocardial reperfusion and improve microvascular dysfunction early. In the present work, we aimed to demonstrate the factors that may affect TA efficiency and introduce several highly effective approaches to treat refractory coronary thrombus.

13.
Article in Chinese | WPRIM | ID: wpr-982111

ABSTRACT

OBJECTIVE@#To explore the efficacy of tyrosine kinase inhibitor (TKI) combined with decitabine, homoharringtonine, and interferon regimen as maintenance therapy for blast phase chronic myeloid leukemia (CML-BP).@*METHODS@#The clinical data of CML-BP patients who received the first major hematological response after induction therapy at The Affiliated Cancer Hospital of Zhengzhou University from June 2015 to December 2021 were analyzed retrospectively. The event-free survival, duration of remission, and overall survival of patients in TKI combined with decitabine, homoharringtonine, interferon group(n=18) and TKI combined with conventional chemotherapy group(n=10) were compared by log-rank test.@*RESULTS@#A total of 28 patients were included, with a median age of 46 (24-58) years old. Kaplan-Meier survival analysis showed that patients in TKI combined with decitabine, homoharringtonine, interferon group had longer event-free survival (7.4 vs 4.3 months, P=0.043, HR=0.44, 95% CI: 0.17-1.14), duration of overall remission (16.1 vs 6.6 months, P=0.005, HR=0.32, 95% CI: 0.11-0.89), overall survival (34.3 vs 13.5 months, P=0.006, HR=0.29, 95% CI: 0.10-0.82) compared with patients in TKI combined with conventional chemotherapy group.@*CONCLUSION@#The TKI combined with decitabine, homoharringtonine and interferon regimen can significantly prolong the survival of CML-BP patients who obtained the major hematological response compared with TKI combined with conventional chemotherapy regimen.


Subject(s)
Humans , Middle Aged , Blast Crisis/drug therapy , Homoharringtonine/therapeutic use , Decitabine/therapeutic use , Interferons/therapeutic use , Tyrosine Protein Kinase Inhibitors , Retrospective Studies , Antineoplastic Combined Chemotherapy Protocols/therapeutic use , Protein Kinase Inhibitors/therapeutic use , Treatment Outcome
14.
Chinese Journal of Traumatology ; (6): 125-130, 2023.
Article in English | WPRIM | ID: wpr-981927

ABSTRACT

The wound mechanism, injury characteristics and treatment principles of anti-armored vehicle ammunition against armored crew in the past 20 years are summarized in this paper. Shock vibration, metal jet, depleted uranium aerosol and post armor breaking effect are the main factors for wounding armored crew. Their prominent characteristics are severe injury, high incidence of bone fracture, high rate of depleted uranium injury, and high incidence of multiple/combined injuries. During the treatment, attention must be paid on that the space of armored vehicle is limited, and the casualties should be moved outside of the cabin for comprehensive treatment. Especially, the management of depleted uranium injury and burn/inhalation injury are more important than other injuries for the armored wounds.


Subject(s)
Humans , Uranium/analysis , Respiratory Aerosols and Droplets , Motor Vehicles , Burns/therapy , Multiple Trauma
15.
Article in Chinese | WPRIM | ID: wpr-981808

ABSTRACT

OBJECTIVE@#To explore the clinical characteristics and genetic etiology of a child with multiple pterygium syndrome (MPS).@*METHODS@#A child with MPS who was treated at the Orthopedics Department of Guangzhou Women and Children's Medical Center Affiliated to Guangzhou Medical University on August 19, 2020 was selected as the study subject. Clinical data of the child was collected. Peripheral blood samples of the child and her parents were also collected. Whole exome sequencing (WES) was carried out for the child. Candidate variant was validated by Sanger sequencing of her parents and bioinformatic analysis.@*RESULTS@#The child, an 11-year-old female, had a complain of "scoliosis found 8 years before and aggravated with unequal shoulder height for 1 year". WES results revealed that she has carried a homozygous c.55+1G>C splice variant of the CHRNG gene, for which both of her parents were heterozygous carriers. By bioinformatic analysis, the c.55+1G>C variant has not been recorded by the CNKI, Wanfang data knowledge service platform and HGMG databases. Analysis with Multain online software suggested that the amino acid encoded by this site is highly conserved among various species. As predicted with the CRYP-SKIP online software, the probability of activation and skipping of the potential splice site in exon 1 caused by this variant is 0.30 and 0.70, respectively. The child was diagnosed with MPS.@*CONCLUSION@#The CHRNG gene c.55+1G>C variant probably underlay the MPS in this patient.


Subject(s)
Humans , Child , Female , Abnormalities, Multiple/genetics , Malignant Hyperthermia/genetics , Skin Abnormalities/genetics , Heterozygote , Mutation , Receptors, Nicotinic/genetics
16.
Article in Chinese | WPRIM | ID: wpr-981693

ABSTRACT

OBJECTIVE@#To explore pathogenesis of glucocortocoid-induced osteoporosis(GIOP) based on label-free mass proteomics.@*METHODS@#Twevle female Sprague-Dawley(SD) rats were randomly divided into two groups, named as sham group and GIOP group. After one-week adaptive feeding, the rats of GIOP group were administered with dexamethasone via intramuscular injection according to 2.5 mg/kg weighting, while the rats of sham group were administered with the same amount of saline, twice a week. The tibias of each group were collected after 8-week modeling and made pathological sections to confirm the success of modeling. Three samples of each group were picked up to perform label-free mass proteomics. After quality control, differentially expressed proteins were identified according to qualitative and quantitative analyses. Then gene ontology(GO) and Kyoto encyclopedia of genes and genomes (KEGG) enrichment analysis, cluster analysis as well as protein-protein interaction analysis were performed using bioinformatics analysis.@*RESULTS@#Compared with sham group, the structure of bone trabecular in GIOP group showed abnormal arrangement, uneven distribution and obvious fragmentation, which could demonstrate successful modeling. A total of 47 differentially expressed proteins (DEPs) were identified including 20 up-regulated and 27 down-regulated proteins. The expression of protein nucleophosmin 1(NPM1), adipocyte plasma membrane associated protein (APMAP), cytochromec oxidase subunit 6A1 (COX6A1) and tartrate-resistant acid phosphatase (ACP5) showed a significant difference between two groups. KEGG results showed DEPs were enriched on metabolism-related pathways, immune-related pathways and AMP-activated kinase (AMPK) signaling pathway.@*CONCLUSION@#Protein NPM1, APMAP, COX6A1 and ACP5 showed a close relationship with pathogenesis of GIOP, which could serve as potential biomarkers of GIOP. AMPK signaling pathway played an important role in the occurrence and development of GIOP, which could be regarded as potential signaling pathway to treatment GIOP.


Subject(s)
Female , Rats , Animals , Glucocorticoids/adverse effects , AMP-Activated Protein Kinases , Proteomics , Rats, Sprague-Dawley , Osteoporosis/genetics , Nuclear Proteins/adverse effects
17.
Article in Chinese | WPRIM | ID: wpr-996105

ABSTRACT

Objective:To explore the core competency of doctors in tertiary public hospitals in regions of different income levels in China, and provide reference for promoting such competency and related policy formulation.Methods:Using multi-stage stratified cluster sampling method, 195 tertiary public hospitals in 16 provinces of China were selected from November 2021 to March 2022. 200 doctors were sampled from each hospital. A self-designed questionnaire was used to investigate the status of doctors′ core competencies, as well as the status of their postgraduate medical education and continuing medical education. According to the per capita gross regional product of each province in China Statistical Yearbook 2022, each province was divided into high, middle and low income regions, and the questionnaire data were descriptively analyzed, while χ2 test was used to compare the differences between groups. Results:A total of 32 673 valid questionnaires were collected. There were 12 135 doctors (37.14%) in China who had received comprehensive education and training of core competency in all dimensions. Among the dimensions of self-rated core competency of the surveyed doctors, there were 10 019 doctors (30.66%) with insufficient teaching ability and 438 (1.34%) with insufficient professional quality, and there was no significant difference between regions ( P>0.05). There were 2 385 (27.08%), 2 528 (27.55%) and 3 646 (24.82%) doctors in high-, middle- and low-income regions with insufficient lifelong learning ability, respectively. The proportion of doctors in middle- and high-income regions was higher than that in low-income ones ( P<0.05). There were 1 317 (15.57%), 1 290 (14.06%) and 2 719 (18.51%) doctors with insufficient knowledge and skills in high-, middle- and low-income areas, respectively. The proportion of doctors in low-income regions was higher than that in middle- and high-income regions ( P<0.05). The proportion of doctors who did not receive any kind of postgraduate medical education or continuing medical education in low-income regions was 7.33% (1 077 people), higher than that in high-income and middle- income ones ( P<0.05); 50.44% (4 442 people) of surveyed doctors in high-income regions believed that for standardized training of resident physicians (hereinafter referred to as residential training), the clinical teachers were " overworked to take this job", which was higher than that in middle- and low-income regions ( P<0.001); In middle-income regions, 46.16% (4 235 people) and 43.46% (3 987 people) believed that the salary residents and specialized physicians in standardized training (hereinafter referred to as specialized training) was too low, while 42.47% (3 897 people) and 30.44% (2 793 people) believed that the clinical practice opportunities of students were limited, both of which were higher than those in high-income and low-income regions ( P<0.001); 34.91% (5 128 people) of surveyed doctors in low-income regions believed that the investment was insufficient for training bases of residential training, 27.81% (4 085 people) of those held that training bases for specialized training were unevenly distributed, and 33.19% (4 876 people) of those held that continuing medical education was plagued by " insufficient promotion coverage, and insufficient opportunities for primary doctors", all of which being higher than those in high- and middle-income regions ( P<0.001). Conclusions:There is an obvious need to improve the core competence of doctors in the teaching ability dimension of tertiary public hospitals in China, especially in middle- and high-income regions for lifelong learning, and in low-income regions for knowledge and skills; There are differences between postgraduate medical education and continuing medical education systems in regions of different income levels in China. It is necessary to improve the competency oriented postgraduate medical education and continuing medical education systems.

18.
Article in Chinese | WPRIM | ID: wpr-995871

ABSTRACT

Objective:To explore the development, application and practical experience of investigator-initiated integrated clinical research information platform.Methods:The process of developing and constructing an integrated clinical research platform in a tertiary hospital in Beijing was introduced, the functions and advantages of the platform were described and displayed, and the main problems and risk points in the development and construction process were analyzed.Results:The integrated clinical research platform meets the management requirements of clinical research initiated by investigators, and the standardized management of the whole life cycle of the project can be realized through the platform, and the key issues of data security, information capture, sharing and interoperability need to be further explored in terms of platform docking.Conclusions:The integrated clinical research platform effectively improves the standardization, management quality and efficiency of investigator-initiated clinical research.

19.
Article in Chinese | WPRIM | ID: wpr-995855

ABSTRACT

Objective:To provide decision-making support for electronic informed consent selection and promotion in clinical research, and lay a possible theoretical foundation for better protection of subjects′ rights and interests, as well as promotion of clinical research quality and efficiency.Methods:This paper summarized the relevant laws and regulations of electronic informed consent, analyzed the advantages and challenges of the application of electronic informed consent in clinical research, sorted out several common electronic informed consent modes in domestic clinical research, explored their operational processes and applications, and discussed their advantages and limitations.Results:At present, three electronic informed consent modes were mainly used in domestic clinical studies. Each had their own advantages and limitations in terms of convenience of operation, data security, privacy protection of subjects, cost input, popularization degree and so on.Conclusions:Electronic informed consent needs continuing improvement of relevant laws and regulations and the joint efforts of all stakeholders engaged in clinical research. The sponsor and the researcher should take full consideration of the cost, safety, security, feasibility, and ofters, and make the selection according to the actual needs of the research.

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Chinese Journal of Digestion ; (12): 321-326, 2023.
Article in Chinese | WPRIM | ID: wpr-995438

ABSTRACT

Objective:To investigate the disability status of patients with inflammatory bowel disease (IBD) in China and to identify the influencing factors of the inflammatory bowel disease disability index (IBD-DI).Methods:From October 1 to December 31, 2021, a total of 1 170 IBD patients were recruited from 7 IBD centers and WeChat public platforms in China. All the patients were surveyed by the IBD-DI questionnaire, which included demographic information, disease activity, medication history, treatment and surgical history. Demographic information included gender, age, income status, etc. Multiple linear regression was used to analyze the influencing factors of IBD-DI.Results:Among the 1 170 IBD patients, 746 patients (63.76%) were male and 424 patients (36.24%) were female; there were 871 cases (74.44%) of Crohn′s disease(CD), 277 cases (23.68%) of ulcerative colitis (UC) and 22 cases (1.88%) of inflammatory bowel disease undassified (IBDU). The age was 36.00 years old (29.00 years old, 45.00 years old), and the IBD-DI score was 9.00 (5.00, 15.00). The results of multiple linear regression analysis revealed that the disease activity ( β=0.65, t=22.33, P<0.001), current treatment with enteral nutrition ( β=0.09, t=3.06, P<0.001), and history of perianal surgery ( β=0.06, t=2.12, P=0.034) were influencing factors of IBD-DI in the CD patients. Disease activity ( β=0.65, t=14.37, P<0.001), household per capita annual income ( β=-0.16, t=-3.59, P<0.001), current usage of immunosuppressants ( β=0.12, t=2.66, P=0.008), current treatment with enteral nutrition ( β=0.12, t=2.57, P=0.011), and the duration of each exercise ( β=-0.12, t=-2.67, P=0.008) were influencing factors of IBD-DI in UC patients. Conclusions:Disability is common in Chinese IBD patients, and their IBD-DI were different. Disease activity is the most important factor affecting IBD-DI. The IBD-DI is higher in IBD patients receiving enteral nutrition treatment, CD patients with a history of perianal surgery and UC patients with current usage of immunosuppressants. However, household per capita annual income and the duration of each exercise are negatively correlated with IBD-DI in UC patients.

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