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1.
Zhonghua Er Ke Za Zhi ; 62(4): 368-373, 2024 Mar 25.
Article in Chinese | MEDLINE | ID: mdl-38527509

ABSTRACT

Objective: To explore the clinical and genetic characteristics of asparagine synthase deficiency. Methods: Case series studies. Retrospective analysis and summary of the clinical data of 6 cases with asparagine synthase deficiency who were diagnosed by genetic testing and admitted to the Third Affiliated Hospital of Zhengzhou University from May 2017 to April 2023 were analyzed retrospectively. The main clinical features, laboratory and imaging examination characteristics of the 6 cases were summarized, and the gene variation sites of them were analyzed. Results: All of the 6 cases were male, with onset ages ranging from 1 month to 1 year and 4 months. All of the 6 cases had cognitive and motor developmental delay, with 3 cases starting with developmental delay, 3 cases starting with convulsions and later experiencing developmental arrest or even regression. All of 6 cases had epilepsy, in whom 2 cases with severe microcephaly developed epileptic encephalopathy in the early stages of infancy with spasms as the main form of convulsions, 4 cases with mild or no microcephaly gradually evolved into convulsions with no fever after multiple febrile convulsions with focal seizures, tonic clonic seizures and tonic seizure as the main forms of convulsions. Three cases of 4 gradually developed into stagnation or even regression of development and ataxia after multiple convulsions with no fever. There were normal cranial imaging in 2 cases, dysplasia of the brains in 1 cases, frontal lobe apex accompanied by abnormal white matter signal in the frontal lobe and thin corpus callosum in 1 case, thin corpus callosum and abnormal lateral ventricular morphology in 1 case, and normal in early stage, but gradually developing into cerebellar atrophy at the age of 5 years and 9 months in 1 case. Two cases underwent visual evoked potential tests, the results of which were both abnormal. Three cases underwent auditory evoked potential examination, with 1 being normal and 2 being abnormal. All of 6 cases had variations in the asparagine synthase gene, with 2 deletion variations and 7 missense variations. The variations of 2 cases had not been reported so far, including c.1341_1343del and c.1283A>G, c.1165_1167del and c.1075G>A. The follow-up time ranged from 3 months to 53 months. Two cases who had severe microcephaly died in infancy, while the other 4 cases with mild or no microcephaly were in survival states until the follow-up days but the control of epilepsy was poor. Conclusions: Asparagine synthase deficiency has a certain degree of heterogeneity in clinical phenotype. Children with obvious microcephaly often present as severe cases, while children with mild or no microcephaly have relatively mild clinical manifestations. The variation of asparagine synthetase gene is mainly missense variation.


Subject(s)
Amino Acid Metabolism, Inborn Errors , Aspartate-Ammonia Ligase , Epilepsy, Generalized , Epilepsy , Microcephaly , Child , Humans , Male , Child, Preschool , Female , Microcephaly/genetics , Aspartate-Ammonia Ligase/genetics , Retrospective Studies , Evoked Potentials, Visual , Epilepsy/genetics , Epilepsy/diagnosis , Seizures/genetics , Atrophy , Electroencephalography
2.
Zhonghua Yan Ke Za Zhi ; 59(12): 995-1002, 2023 Dec 11.
Article in Chinese | MEDLINE | ID: mdl-38061900

ABSTRACT

Objective: To investigate the disparity between the set value of the capsulorhexis ring diameter in ophthalmic surgical navigation systems and the actual capsulorhexis ring diameter projected onto the lens surface. Methods: It was a cross-sectional study. Based on the Gullstrand eye model, the theoretical diameter of the capsulorhexis ring projected onto the lens plane through the cornea was calculated using the law of refraction in the Callisto Eye System. When the anterior chamber depth (ACD) ranged from 2.0 to 4.0 mm and the corneal curvature ranged from 40.00 to 48.00 D, the capsulorhexis ring diameters were calculated after projecting capsulorhexis rings with set diameters of 5.5 mm and 6.0 mm onto the lens plane. Additionally, 40 patients (40 eyes) aged 40 to 85 years who underwent cataract phacoemulsification combined with intraocular lens implantation at the Sixth People's Hospital of Shanghai Jiao Tong University School of Medicine were selected to validate the theoretical calculations. Among them, 15 were male, and 25 were female, and they were divided into three groups based on the ACD: group A (13 eyes) with ACD<3.0 mm; group B (16 eyes) with 3.0 mm≤ACD<3.5 mm; group C (11 eyes) with ACD≥3.5 mm. One week after surgery, anterior segment images of the eyes were taken, and the actual capsulorhexis ring diameter was measured using the Photoshop image processing software and compared with the set and calculated values. Results: When the capsulorhexis ring diameters were set at 5.5 mm and 6.0 mm and the corneal curvature was calculated based on the Gullstrand Eye model at 43.05 D, a linear negative correlation was found between ACD and the capsulorhexis ring diameter projected onto the lens plane (P<0.001). When the ACD was set at 2.5, 3.0, and 3.5 mm, and the capsulorhexis ring diameters were set at 5.5 and 6.0 mm, a linear negative correlation was observed between corneal curvature and the capsulorhexis ring diameter projected onto the lens plane (P<0.001). When the capsulorhexis ring diameter was set at 5.5 mm and the patient ACD and corneal curvature data were used for calculations, the capsulorhexis ring diameters projected onto the lens plane for groups A, B, and C were (5.09±0.05) mm, (4.97±0.05) mm, and (4.91±0.07) mm, respectively. When the capsulorhexis ring diameter was set at 6.0 mm, they were (5.56±0.05) mm, (5.44±0.05) mm, and (5.37±0.08) mm, respectively. One week after surgery, the actual measurements of capsulorhexis ring diameters for groups A, B, and C were (5.44±0.20) mm, (5.27±0.28) mm, and (5.25±0.41) mm, respectively, and the differences compared to the calculated values were not statistically significant (all P>0.05), but the differences compared to the set values were statistically significant (all P<0.001). Conclusion: The capsulorhexis ring diameter projected onto the lens surface by the Callisto Eye system was reduced by 7.33% to 10.48% compared to the set value, and the degree of reduction increased with the increase of ACD and corneal curvature.


Subject(s)
Cataract , Lenses, Intraocular , Phacoemulsification , Humans , Male , Female , Capsulorhexis/methods , Lens Implantation, Intraocular , Cross-Sectional Studies , China , Phacoemulsification/methods
3.
Eur Rev Med Pharmacol Sci ; 27(18): 8384-8396, 2023 09.
Article in English | MEDLINE | ID: mdl-37782155

ABSTRACT

OBJECTIVE: This meta-analysis aimed to summarize the evidence on the use of ultrasonography for confirming endotracheal tube placement in emergency departments. MATERIALS AND METHODS: We conducted electronic searches on PubMed, Embase, Web of Science, and Cochrane databases. All databases were searched from their inception until February 2023. We selected studies published in English that used ultrasonography to confirm endotracheal tube placement. Case reports, case series, retrospective studies, cadaveric studies, pediatric studies, animal studies, and conference abstracts were excluded. Two reviewers independently extracted and verified data. Forest plots, hierarchical summary receiver operating characteristic (HSROC) curves, and bivariate random-effects models were used to summarize the test performance characteristics. The Stata statistical software package and Meta-DiSc version 1.4 software were used for statistical analysis. RESULTS: A total of 1,772 intubations were analyzed. For the detection of endotracheal tube placement, the estimated pooled sensitivity and specificity were 0.98 (95% CI: 0.97-0.99) and 0.92 (95% CI 0.85-0.95), respectively. The pooled positive and negative likelihood ratios were 11.70 (95% CI: 6.49-21.07) and 0.02 (95% CI: 0.01-0.03), respectively. The diagnostic odds ratio of ultrasonography was 221.13, and the area under the HSROC curve revealed an appropriate accuracy of 0.99. CONCLUSIONS: Current evidence supports the use of ultrasonography as a worthwhile alternative for endotracheal tube identification for intubations performed in emergency departments. This method can be used in conjunction with capnography as a preliminary test before final confirmation with capnography.


Subject(s)
Emergency Service, Hospital , Intubation, Intratracheal , Animals , Humans , Child , Retrospective Studies , Databases, Factual , Ultrasonography
4.
Zhonghua Yu Fang Yi Xue Za Zhi ; 57(10): 1647-1654, 2023 Oct 06.
Article in Chinese | MEDLINE | ID: mdl-37859385

ABSTRACT

Cervical cancer mainly caused by human papillomavirus (HPV) infection has become a public health issue, which seriously threatens women 's health. To prevent HPV infection, the currently used prophylactic vaccines mainly induce a humoral immune response in the host, thereby generating neutralizing antibodies. In contrast, the design goal of therapeutic HPV vaccines is to induce a cell-mediated immune response in the host, primarily driven by Th1 cells, aiming to clear existing viral infections and slow down or inhibit tumor progression. Currently, several therapeutic HPV vaccines based on different mechanisms and techniques have entered clinical trials. This review will summarize the progress of these clinical trials, providing reference for the research and development of therapeutic HPV vaccines.


Subject(s)
Papillomavirus Infections , Papillomavirus Vaccines , Uterine Cervical Neoplasms , Female , Humans , Papillomavirus Vaccines/therapeutic use , Papillomavirus Infections/prevention & control , Immunity, Cellular , Papillomaviridae
5.
Zhonghua Yi Xue Za Zhi ; 103(31): 2412-2419, 2023 Aug 22.
Article in Chinese | MEDLINE | ID: mdl-37599215

ABSTRACT

Objective: To investigate the correlation of spinopelvic alignment according to Roussouly classification on the occurrence of adjacent segment disease (ASD) in the patients undergoing fusion surgery for lumbar degenerative diseases. Methods: A cross-sectional study. Clinical data of 166 consecutive patients who had undergone lumbar fusion between January 2009 and January 2019 in the Affiliated Changzhou Second People's Hospital of Nanjing Medical University and Affiliated Drum Tower Hospital of Medical School of Nanjing University were retrospectively reviewed. There were 59 males and 107 females, with an average age of (58.6±9.5) years (ranged 41-78 years). Fusion length averagely spanned (1.7±0.7) levels (ranged 1-3 levels). The patients were classified by both "theoretical" (based on pelvic incidence (PI)) and "current"(based on sacral slope (SS)) Roussouly types. The patients were classified as "matched" if their "current" shape matched the "theoretical" type and otherwise as "unmatched". Multivariate logistic regression analysis of the variables recruited from univariate analyses was performed to identify the factors independently associated with the development of ASD after lumbar fusion. Results: The average follow-up duration after initial surgery was (49.2±20.7) months (ranged 25 to 134 months). Thirty (18.1%, 30/166) patients were diagnosed as ASD. Postoperatively, two thirds of the patients who suffered ASD after surgery were unmatched, while 36.8% (50/136) of the patients without ASD had unmatched type. Univariate analyses showed that older age, more fusion levels, float fusion, pre-and postoperative worse spinopelvic alignment, and postoperative unmatched Roussouly type were identified as risk factors of ASD. Multivariate logistic regression analysis identified postoperative Roussouly type mismatch (OR=3.310, 95%CI: 1.282-8.545, P=0.013), old age (OR=1.074, 95%CI: 1.019-1.131, P=0.008) and postoperative SS (OR=0.928, 95%CI: 0.865-0.995, P=0.036) as the independent risk factors of development of ASD after lumbar fusion. Conclusion: A significant association between postoperative sagittal malalignment and occurrence of ASD is detected, the evaluation of sagittal alignment by Roussouly classification could help predict the occurrence of ASD.


Subject(s)
Hospitals , Lumbosacral Region , Female , Male , Humans , Adult , Middle Aged , Aged , Cross-Sectional Studies , Retrospective Studies , Pelvis
6.
Beijing Da Xue Xue Bao Yi Xue Ban ; 55(3): 400-407, 2023 Jun 18.
Article in Chinese | MEDLINE | ID: mdl-37291913

ABSTRACT

OBJECTIVE: To utilized the baseline data of the Beijing Fangshan Family Cohort Study, and to estimate whether the association between a healthy lifestyle and arterial stiffness might be modified by genetic effects. METHODS: Probands and their relatives from 9 rural areas in Fangshan district, Beijing were included in this study. We developed a healthy lifestyle score based on five lifestyle behaviors: smoking, alcohol consumption, body mass index (BMI), dietary pattern, and physical activity. The measurements of arterial stiffness were brachial-ankle pulse wave velocity (baPWV) and ankle-brachial index (ABI). A variance component model was used to determine the heritability of arterial stiffness. Genotype-environment interaction effects were performed by the maximum likelihood methods. Subsequently, 45 candidate single nucleotide polymorphisms (SNPs) located in the glycolipid metabolism pathway were selected, and generalized estimated equations were used to assess the gene-environment interaction effects between particular genetic loci and healthy lifestyles. RESULTS: A total of 6 302 study subjects across 3 225 pedigrees were enrolled in this study, with a mean age of 56.9 years and 45.1% male. Heritability of baPWV and ABI was 0.360 (95%CI: 0.302-0.418) and 0.243 (95%CI: 0.175-0.311), respectively. Significant genotype-healthy diet interaction on baPWV and genotype-BMI interaction on ABI were observed. Following the findings of genotype-environment interaction analysis, we further identified two SNPs located in ADAMTS9-AS2 and CDH13 might modify the association between healthy dietary pattern and arterial stiffness, indicating that adherence to a healthy dietary pattern might attenuate the genetic risk on arterial stiffness. Three SNPs in CDKAL1, ATP8B2 and SLC30A8 were shown to interact with BMI, implying that maintaining BMI within a healthy range might decrease the genetic risk of arterial stiffness. CONCLUSION: The current study discovered that genotype-healthy dietary pattern and genotype-BMI interactions might affect the risk of arterial stiffness. Furthermore, we identified five genetic loci that might modify the relationship between healthy dietary pattern and BMI with arterial stiffness. Our findings suggested that a healthy lifestyle may reduce the genetic risk of arterial stiffness. This study has laid the groundwork for future research exploring mechanisms of arterial stiffness.


Subject(s)
Ankle Brachial Index , Vascular Stiffness , Humans , Male , Middle Aged , Female , Cohort Studies , Gene-Environment Interaction , Vascular Stiffness/genetics , Pedigree , Pulse Wave Analysis/methods , Genotype
7.
Beijing Da Xue Xue Bao Yi Xue Ban ; 55(3): 456-464, 2023 Jun 18.
Article in Chinese | MEDLINE | ID: mdl-37291921

ABSTRACT

OBJECTIVE: To explore the association between the use of metformin and the risk of ischemic stroke in patients with type 2 diabetes. METHODS: A prospective cohort study was designed from the Fangshan family cohort in Beijing. According to metformin use at baseline, 2 625 patients with type 2 diabetes in Fangshan, Beijing were divided into metformin group or non-metformin group and the incidence of ischemic stroke between the different groups during follow-up was estimated and compared by Cox proportional hazard regression model. The participants with metformin were first compared with all the parti-cipants who did not use metformin, and then were further compared with those who did not use hypoglycemic agents and those who used other hypoglycemic agents. RESULTS: The patients with type 2 diabetes were with an average age of (59.5±8.7) years, and 41.9% of them were male. The median follow-up time was 4.5 years. A total of 84 patients developed ischemic stroke during follow-up, with a crude incidence of 6.4 (95%CI: 5.0-7.7) per 1 000 person-years. Among all the participants, 1 149 (43.8%) took metformin, 1 476 (56.2%) were metformin non-users, including 593 (22.6%) used other hypoglycemic agents, and 883 (33.6%) did not use any hypoglycemic agents. Compared with metformin non-users, the Hazard ratio (HR) for ischemic stroke in metformin users was 0.58 (95%CI: 0.36-0.93; P = 0.024). Compared with other hypoglycemic agents, HR was 0.48 (95%CI: 0.28-0.84; P < 0.01); Compared with the group without hypoglycemic agents, HR was 0.65 (95%CI: 0.37-1.13; P=0.13). The association between metformin and ischemic stroke was statistically significant in the patients ≥ 60 years old compared with all the metformin non-users and those who used other hypoglycemic agents (HR: 0.48, 95%CI: 0.25-0.92; P < 0.05). Metformin use was associated with a lower incidence of ischemic stroke in the patients with good glycemic control (0.32, 95%CI: 0.13-0.77; P < 0.05). In the patients with poor glycemic control, and the association was not statistically significant (HR: 0.97, 95%CI: 0.53-1.79; P>0.05). There was an interaction between glycemic control and metformin use on incidence of ischemic stroke (Pinteraction < 0.05). The results of the sensitivity analysis were consistent with the results in the main analysis. CONCLUSION: Among patients with type 2 diabetic in rural areas of northern China, metformin use was associated with lower incidence of ischemic stroke, especially in patients older than 60 years. There was an interaction between glycemic control and metformin use in the incidence of ischemic stroke.


Subject(s)
Diabetes Mellitus, Type 2 , Ischemic Stroke , Metformin , Stroke , Humans , Male , Middle Aged , Aged , Female , Metformin/adverse effects , Diabetes Mellitus, Type 2/complications , Diabetes Mellitus, Type 2/drug therapy , Cohort Studies , Ischemic Stroke/chemically induced , Ischemic Stroke/complications , Prospective Studies , Hypoglycemic Agents/adverse effects , Stroke/epidemiology , Stroke/etiology , Stroke/prevention & control , Retrospective Studies
8.
Beijing Da Xue Xue Bao Yi Xue Ban ; 55(3): 471-479, 2023 Jun 18.
Article in Chinese | MEDLINE | ID: mdl-37291923

ABSTRACT

OBJECTIVE: To develop and validate a three-year risk prediction model for new-onset cardiovascular diseases (CVD) among female patients with breast cancer. METHODS: Based on the data from Inner Mongolia Regional Healthcare Information Platform, female breast cancer patients over 18 years old who had received anti-tumor treatments were included. The candidate predictors were selected by Lasso regression after being included according to the results of the multivariate Fine & Gray model. Cox proportional hazard model, Logistic regression model, Fine & Gray model, random forest model, and XGBoost model were trained on the training set, and the model performance was evaluated on the testing set. The discrimination was evaluated by the area under the curve (AUC) of the receiver operator characteristic curve (ROC), and the calibration was evaluated by the calibration curve. RESULTS: A total of 19 325 breast cancer patients were identified, with an average age of (52.76±10.44) years. The median follow-up was 1.18 [interquartile range (IQR): 2.71] years. In the study, 7 856 patients (40.65%) developed CVD within 3 years after the diagnosis of breast cancer. The final selected variables included age at diagnosis of breast cancer, gross domestic product (GDP) of residence, tumor stage, history of hypertension, ischemic heart disease, and cerebrovascular disease, type of surgery, type of chemotherapy and radiotherapy. In terms of model discrimination, when not considering survival time, the AUC of the XGBoost model was significantly higher than that of the random forest model [0.660 (95%CI: 0.644-0.675) vs. 0.608 (95%CI: 0.591-0.624), P < 0.001] and Logistic regression model [0.609 (95%CI: 0.593-0.625), P < 0.001]. The Logistic regression model and the XGBoost model showed better calibration. When considering survival time, Cox proportional hazard model and Fine & Gray model showed no significant difference for AUC [0.600 (95%CI: 0.584-0.616) vs. 0.615 (95%CI: 0.599-0.631), P=0.188], but Fine & Gray model showed better calibration. CONCLUSION: It is feasible to develop a risk prediction model for new-onset CVD of breast cancer based on regional medical data in China. When not considering survival time, the XGBoost model and the Logistic regression model both showed better performance; Fine & Gray model showed better performance in consideration of survival time.


Subject(s)
Breast Neoplasms , Cardiovascular Diseases , Humans , Female , Adult , Middle Aged , Adolescent , Breast Neoplasms/epidemiology , Cardiovascular Diseases/epidemiology , Cardiovascular Diseases/etiology , Proportional Hazards Models , Logistic Models , China/epidemiology
9.
Zhonghua Xue Ye Xue Za Zhi ; 44(3): 222-229, 2023 Mar 14.
Article in Chinese | MEDLINE | ID: mdl-37356984

ABSTRACT

Objective: TP53-abnormal MDS/acute myeloid leukemia (AML) patients' allogeneic hematopoietic stem cell transplantation (allo-HSCT) treatment's effectiveness and influencing factors should be studied. Methods: 42 patients with TP53 gene status change MDS/AML who underwent allo-HSCT from 2014.8.1 to 2021.7.31 at the Hematology Hospital of the Chinese Academy of Medical Sciences were the subject of a retrospective analysis. The 42 patients were divided into three groups: the TP53 deletion group (group A) , TP53 mono-alle mutation group (group B) , and TP53 multi-hit group (group C) . The differences in clinical features and prognostic factors after transplantation were analyzed. Results: There were 42 MDS/AML patients, including 21 patients with MDS, and 21 patients with AML. The median follow-up period was 34.0 (7.5-75.0) months and the median patient age at the time of transplantation was 41.5 (18-63) years old. The total OS was 66.3% (95% CI 53.4%-82.4%) in 3 years after transplantation, and EFS was 61.0% (95% CI 47.7%-78.0%) in 3 years. For 3 years after receiving hematopoietic stem cell transplantation, there were no statistically significant differences in 3-year OS and EFS in groups A, B, and C (P≥0.05) . The 3 years OS was 82.5% (95% CI 63.1%-100.0%) in group A, 60.6% (95% CI 43.5%-84.4%) in group B, and 57.1% (95% CI 30.1%-100.0%) in group C. Univariate analysis revealed that the number of co-mutant genes, pre-HSCT treatment, and disease type did not affect prognosis, while age, karyotype, co-mutation, positive blast cell before transplantation, and positive blast cell after transplantation were common prognostic factors for OS and EFS (P<0.1) . MRD levels before transplantation were found to be independent risk factors for OS (P=0.037, HR=33.40, 95% CI 1.24-901.17) in a multivariate analysis. Conclusion: Patients with MDS/AML who have TP53 mutations can benefit from allo-HSCT, but patients with complex karyotypes have a worse prognosis. Meanwhile, the final flow cytometry (FCM) monitoring blast cell test before HSCT has a certain guiding significance for prognostic assessment.


Subject(s)
Hematopoietic Stem Cell Transplantation , Leukemia, Myeloid, Acute , Adult , Humans , Middle Aged , Leukemia, Myeloid, Acute/genetics , Leukemia, Myeloid, Acute/therapy , Prognosis , Retrospective Studies , Transplantation, Homologous , Tumor Suppressor Protein p53/genetics , Adolescent , Young Adult
10.
Zhonghua Liu Xing Bing Xue Za Zhi ; 44(4): 662-666, 2023 Apr 10.
Article in Chinese | MEDLINE | ID: mdl-37147842

ABSTRACT

The Ministry of Education and other four departments jointly issued the Notice on the Construction of high-level schools of public Health, proposing that "it will take ten years to build a number of high-level schools of public health, and form a high-quality education development system to adapt to the construction of modern public health system". At present, the construction of high-level public health schools in various universities in China is in full swing. The high-level School of Public Health and the CDC have played an important role in constructing the national public health system and the human health community. The high-level public health schools are of strategic significance and important value to the development of the CDC. The review presents reflections and insights on the role of high-level public health schools in the development of the CDC and the challenges they might face.


Subject(s)
Schools, Public Health , Schools , Humans , United States , Universities , Public Health , Centers for Disease Control and Prevention, U.S.
11.
Zhonghua Yi Xue Za Zhi ; 103(10): 746-751, 2023 Mar 14.
Article in Chinese | MEDLINE | ID: mdl-36889688

ABSTRACT

Objective: To investigate the role of caspase recruitment domain protein 9 (CARD9) in airway injury and inflammation of steroid resistant asthma in C57BL/6 mice. Methods: C57BL/6 mice were divided into A group (control group), B group (model group) and C group (dexamethasone treatment group), with 6 mouse in each group using random number table. The mouse asthma model was established in B and C group by subcutaneous injection of ovalbumin (OVA)/complete Freund adjuvant (CFA) in the abdomen and OVA aerosol challenge, the pathological change and cell count in broncho alveolar lavage fluid (BALF) were detected in order to confirm the model as steroid resistant asthma, and the lung tissue inflammatory infiltration was scored. Western blot was used to detect the changes of CARD9 protein between the group A and B; then wild-type and CARD9 knockout mice were divided into D group (wild-type control group), E group (wild-type model group), F group (CARD9 knockout control group) and G group (CARD9 knockout model group), the following indicators were observed and compared after establishing steroid resistant asthma model separately: HE staining was used to observe the pathological changes of lung tissue, ELISA was used to detect the protein levels of interleukin-4 (IL-4), interleukin-5 (IL-5) and interleukin-17(IL-17) in BALF, and RT-PCR was used to detect the mRNA levels of CXC motif chemokine ligand-10 (CXCL-10) and IL-17 in lung. Results: The inflammatory score (3.33±0.82 vs 0.67±0.52) and BALF total cell count [(10.13±4.83) ×105/ml vs (3.76±0.84) ×105/ml] in B group were higher than those in the A group with statistical significance (P<0.05). There was no significant difference between group C and group B in inflammatory infiltration score (2.83±0.75 vs 3.33±0.82) and BALF total cell count [(9.80±3.19) ×105/ml vs (10.13±4.83) ×105/ml] (P>0.05). Moreover the protein level of CARD9 was increased in the B group than A group (0.245±0.090 vs 0.047±0.014, P=0.004). Compared to E group and F group, more obviously inflammatory cells, neutrophils, eosinophils infiltration and tissue injury were observed in G group (P<0.05), so did the expression of IL-4 (P<0.05), IL-5 and IL-17. Meanwhile the mRNA expression levels of IL-17 and CXCL-10 also increased in lung tissue (P<0.05) of G group. Conclusion: CARD9 gene deletion may aggravate the steroid resistant of asthma by increasing neutrophil chemokines, such as IL-17 and CXCL-10, therefore increasing infiltration of neutrophils in C57BL/6 mice asthma model.


Subject(s)
Asthma , Interleukin-4 , Mice , Animals , Interleukin-5 , Interleukin-17 , Caspase Activation and Recruitment Domain , Gene Knockout Techniques , Mice, Inbred C57BL , Asthma/therapy , Lung/pathology , Bronchoalveolar Lavage Fluid , Steroids , Inflammation , Disease Models, Animal , Mice, Inbred BALB C , Ovalbumin
12.
Zhonghua Liu Xing Bing Xue Za Zhi ; 44(3): 504-510, 2023 Mar 10.
Article in Chinese | MEDLINE | ID: mdl-36942349

ABSTRACT

Non-syndromic oral cleft (NSOC), a common birth defect, remains to be a critical public health problem in China. In the context of adjustment of childbearing policy for two times in China and the increase of pregnancy at older childbearing age, NSOC risk prediction will provide evidence for high-risk population identification and prenatal counseling. Genome-wide association study and second generation sequencing have identified multiple loci associated with NSOC, facilitating the development of genetic risk prediction of NSOC. Despite the marked progress, risk prediction models of NSOC still faces multiple challenges. This paper summarizes the recent progress in research of NSOC risk prediction models based on the results of extensive literature retrieval to provide some insights for the model development regarding research design, variable selection, model-build strategy and evaluation methods.


Subject(s)
Cleft Lip , Cleft Palate , Humans , Cleft Palate/genetics , Cleft Lip/genetics , Genome-Wide Association Study , Genetic Predisposition to Disease , Risk Factors , Polymorphism, Single Nucleotide
13.
Zhonghua Kou Qiang Yi Xue Za Zhi ; 58(2): 151-157, 2023 Feb 09.
Article in Chinese | MEDLINE | ID: mdl-36746448

ABSTRACT

Objective: To investigate the clinicopathological features, treatment and prognosis of maxillofacial neuroendocrine carcinoma. Methods: A total of 11 patients with maxillofacial neuroendocrine carcinoma diagnosed in the Department of Pathology of The First Affiliated Hospital of Zhengzhou University from December 2010 to July 2022 were retrospectively enrolled, including 8 males and 3 females, aged (65.2±9.5) years (ranged from 49 to 87 years), with a disease course of 0.5 to 6.0 months. The clinicopathological data including head and neck CT, MRI and treatment methods were analyzed. Results: Submandibular gland and maxilla were involved in 3 cases, parapharynx in 2 cases, and face, tongue root and soft palate in 1 case respectively. Clinically, the initial symptom is a rapidly growing painless or tender mass, which may be accompanied by restricted mouth opening, dysphagia, and local numbness after invasion of masticatory muscles and nerves. The tumors were all invasive and low-density, with unclear boundaries from the surrounding tissues. Among the patients, 9 received surgical treatment, and 5 received adjuvant treatment after surgery (2 received chemotherapy, 3 received radiotherapy+chemotherapy). According to the 5th edition of the World Health Organization classification of head and neck tumors in 2022, there were 1 case (1/11) with poorly differentiated large cells and 10 cases (10/11) with poorly differentiated small cells. Histologically, the macrocell type is composed of large cells with rough chromatin, obvious vacuolar nucleolus, protruding nucleolus, and necrosis. The small cell type is dominated by small blue round cells with neuroendocrine characteristics, with active growth and multifocal necrosis. Immunohistochemical staining showed that cytokeratin (CK), epithelial membrane antigen (EMA) and synaptophysin (Syn) were diffusively expressed, 10 cases expressed CD56, 8 cases expressed p63, 6 cases expressed weakly punctated chromograin-A (CgA), and S-100 was not expressed. The Ki-67 index ranges from 20 to 90 percent. By the end of follow-up (0.5 to 127.0 months), 3 patients were alive, and the mean progression-free survival (21.0 months) of postoperative chemoradiotherapy patients was significantly longer than that of surgery and/or chemotherapy alone (3.3 months). Conclusions: Maxillofacial neuroendocrine carcinoma is characterized by low differentiation of small cells, high degree of malignancy and poor prognosis. Radical surgery combined with chemoradiotherapy has better local control effect.


Subject(s)
Carcinoma, Neuroendocrine , Carcinoma, Small Cell , Male , Female , Humans , Carcinoma, Small Cell/metabolism , Carcinoma, Small Cell/pathology , Carcinoma, Small Cell/therapy , Retrospective Studies , Carcinoma, Neuroendocrine/therapy , Carcinoma, Neuroendocrine/metabolism , Carcinoma, Neuroendocrine/pathology , Prognosis , Tongue
14.
Eur Rev Med Pharmacol Sci ; 26(22): 8224-8233, 2022 11.
Article in English | MEDLINE | ID: mdl-36459006

ABSTRACT

OBJECTIVE: The major objective of this review was to compare the diagnostic accuracy of ultrasound in confirming tracheal intubation to the standard methods of confirmation in the intensive care unit (ICU). MATERIALS AND METHODS: This systematic review and meta-analysis of observational studies was conducted from inception to July 2022. We included studies that compared the diagnostic accuracy of ultrasound-detected tracheal intubation to that of the gold standard diagnostic technique performed in adult patients who underwent tracheal intubation as part of any procedure. We searched the following electronic databases for published studies: PubMed, EMBASE, Cochrane Central, and Web of Science. Risk of bias was assessed using a standard procedure based on the Quality Assessment of Diagnostic Accuracy Studies-2 criteria. The results were analyzed using the RevMan or Meta-Disc software to determine the adequacy and conclusiveness of the available evidence. RESULTS: Five studies that included 344 patients met the inclusion criteria. Pooled sensitivity was 0.96 (95% confidence interval (CI) (0.92-0.98) and 1.00 (95% CI: 0.97-1.00), respectively. Furthermore, the diagnostic odds ratio of ultrasonography was 311.25 (95% CI: 63.77-1,519.22), which was confirmed by a summary receiver operating characteristic curve with an area under the curve of 0.98. CONCLUSIONS: Ultrasonography has high sensitivity and specificity, is a valuable adjunct for confirming tracheal intubation in the ICU and should be performed when capnography is unavailable or unreliable.


Subject(s)
Intensive Care Units , Intubation, Intratracheal , Adult , Humans , Ultrasonography , Databases, Factual , Odds Ratio , Observational Studies as Topic
15.
Poult Sci ; 101(12): 102221, 2022 Dec.
Article in English | MEDLINE | ID: mdl-36334430

ABSTRACT

Chemically protected sodium butyrate (CSB) is a new kind of sodium butyrate. Our previous study found that 1,000 mg/kg of CSB had the potential capacity of improving growth performance and promoting early development of small intestine in broilers. This study aimed to investigate the effect of long-term antibiotics or CSB supplementation for intestinal microflora dynamical regulation in broilers. One hundred ninety-two 1-day-old Arbor Acres male broilers were randomly allocated into 3 dietary treatment (8 replicates per treatment) and fed with a basal diet (CON), a diet supplemented with the antibiotics (enramycin, 8 mg/kg and aureomycin, 100 mg/kg) (ANT), or a diet supplemented with 1,000 mg/kg of CSB, respectively. Results showed that dietary supplementation of CSB or ANT treatment elevated the weight gain and feed conversion ratio (FCR; P < 0.05), as compared with control (CON) group. Additionally, CON, CSB, or ANT administration dynamically altered the gut microbiota composition as time goes on. The increased presence of potential pathogens, such as Romboutsia and Shuttleworthia, and decreased beneficial bacteria such as Alistipes, Akkermansia, and Bacteroides were verified in new gut homeostasis reshaped by long-term antibiotics treatment, which has adverse effects on intestinal development and health of broilers. Conversely, CSB supplementation could dynamically enhance the relative abundance of Bacteroides, and decrease Romboutsia and Shuttleworthia in new microflora, which has positive effects on intestinal bacteria of broilers compared with CON group. Meanwhile, CSB supplementation was significantly increased the concentration of propionic acid and total short chain fatty acids (total SCFA; P < 0.05) in comparison with CON and ANT groups. Moreover, CSB treatment significantly increased anti-inflammatory and antioxidative capacities (P < 0.05) of broilers compared with ANT group. Taken together, we revealed characteristic structural changes of gut microbiota throughout long-term CSB or ANT supplementation in broilers, which provided a basic data for evaluating the mechanism of action affecting intestinal health by CSB or ANT administration and CSB as an alternative to antibiotics in the broilers industry.


Subject(s)
Gastrointestinal Microbiome , Male , Animals , Butyric Acid/pharmacology , Chickens/physiology , Animal Feed/analysis , Anti-Bacterial Agents/pharmacology , Intestines , Diet/veterinary , Dietary Supplements/analysis
16.
Zhonghua Yan Ke Za Zhi ; 58(11): 984-988, 2022 Nov 11.
Article in Chinese | MEDLINE | ID: mdl-36348546

ABSTRACT

After cataract extraction, surgically induced astigmatism (SIA) may occur due to the surgical incisions, especially when using clear corneal incisions, which may lead to different degrees of corneal astigmatism and affect postoperative visual quality. How to control SIA and improve the accuracy of SIA calculation is of great value to guide preoperative planning. In this article, the etiology and calculation methodologies of SIA in cataract surgery were reviewed, aiming to provide a reference for the clinical diagnosis and treatment of cataract refractive surgery.


Subject(s)
Astigmatism , Cataract Extraction , Cataract , Phacoemulsification , Humans , Astigmatism/surgery , Cornea/surgery , Prospective Studies , Cataract Extraction/adverse effects , Cataract Extraction/methods , Cataract/complications , Phacoemulsification/methods , Corneal Topography
17.
Zhonghua Liu Xing Bing Xue Za Zhi ; 43(9): 1497-1502, 2022 Sep 10.
Article in Chinese | MEDLINE | ID: mdl-36117360

ABSTRACT

Next-generation sequencing has revolutionized family-based association tests for rare variants. As the lower power of genome wide association study for detecting casual rare variants, methods aggregating effects of multiple variants have been proposed, such as burden tests and variance component tests. This paper summarizes the methods of rare variants association test that can be applied for family data, introduces their principles, characteristics and applicable conditions and discusses the shortcomings and the improvement of the present methods.


Subject(s)
Genetic Variation , Genome-Wide Association Study , Computer Simulation , Family Relations , Genetic Association Studies , Genome-Wide Association Study/methods , Humans
18.
Zhonghua Jie He He Hu Xi Za Zhi ; 45(8): 813-818, 2022 Aug 12.
Article in Chinese | MEDLINE | ID: mdl-35927052

ABSTRACT

Pulmonary arterial hypertension (PAH) is a complex disease caused by multiple factors, including idiopathic PAH, heritable PAH, disease related PAH etc. Due to the high genetic heterogeneity, clinical characteristics and prognosis of PAH patients vary greatly. At present, the specific pathogenesis of PAH is unclear, and the diagnosis and treatment of PAH remain to be explored. Therefore, the study of genetic susceptibility to PAH is of great significance for understanding the occurrence and development of the disease. With the development of genome-wide association study (GWAS), a large number of genetic variations related to etiology, clinical manifestations, prognosis and treatment of PAH have been identified. This review summarizes the recent progress in the application of GWAS in the study of genetic susceptibility of PAH, and provides new insights for further exploration of the development and individualized management of PAH.


Subject(s)
Hypertension, Pulmonary , Pulmonary Arterial Hypertension , Familial Primary Pulmonary Hypertension , Genetic Predisposition to Disease , Genome-Wide Association Study , Humans , Hypertension, Pulmonary/diagnosis , Pulmonary Arterial Hypertension/genetics
19.
Article in Chinese | MEDLINE | ID: mdl-35785903

ABSTRACT

In order to solve the problem of high incidence of work-related musculoskeletal disorders (WMSDs) in upper limb lifting workers, a wearable auxiliary device which could be used in upper limb lifting operation was designed. The auxiliary device could be used in upper limb lifting through torsion spring device to reduce the tension of the arm muscles. The back bracket could be adjusted to adapt to the wearers of different height. The 3D model of the auxiliary device was constructed by using SoildWorks software. And the relative position and constraint between the auxiliary device and the digital simulation human were adjusted by using Jack as the main simulation tool. And then the virtual model of upper limb lifting were simulated and analyzed. Through the comparison of Rapid Upper Limb Assessment (RULA) scale, Krist comfort score and simulation results of two-handed reachable domain before and after wearing the auxiliary device, which proved that the wearable auxiliary device could reduce the risk of WMSDs in upper limb lifting workers.


Subject(s)
Lifting , Wearable Electronic Devices , Ergonomics , Hand , Humans , Upper Extremity
20.
Zhonghua Xin Xue Guan Bing Za Zhi ; 50(6): 563-569, 2022 Jun 24.
Article in Chinese | MEDLINE | ID: mdl-35705465

ABSTRACT

Objective: To summarize the single center experience of transcatheter aortic valve replacement (TAVR) with a simplified operative protocol. Methods: Consecutive patients who underwent transfemoral TAVR (TF-TAVR) from July 2020 to December 2020 in Fuwai Hospital were retrospectively analyzed. We compared the baseline characteristic, procedure information, 30-day follow-up outcomes of the patients who underwent TF-TAVR without the simplified operative protocol (routine group) or with the simplified operative protocol (simplified protocol group). Results: 93 patients were collected, 42 patients belonging to routine group, 51 patients belonging to simplified protocol group. In simplified protocol group, there were 51 patients planned to use ultrasound-guided femoral access puncture, procedure was successful in all 51 patients (100%). There were 49 patients planned to use the radial artery as the secondary access, procedure was successful in 45 patients (92%). There were 48 patients planned to use the strategy of avoidance of urinary catheter, this strategy was achieved in 35 patients (73%). There were 12 patients planned to use the left ventricular guidewire to pace, procedure was successful in 11 patients (92%). There were no differences in baseline characteristics, major clinical endpoints and 30-day follow-up outcomes between the two groups. Meanwhile, the procedure time ((62.5±17.9)min vs. (78.3±16.7)min, P<0.001), operation room time ((133.7±25.1)min vs. (159.2±42.6)min, P<0.001), X-ray exposure time ((17.2±6.5)min vs. (20.2±7.7)min, P=0.027) were significantly shorten in simplified protocol group compared with the routine group. Conclusion: Our study results indicate that the simplified operative protocol of TF-TAVR is as effective and safe as the routine operative protocol, meanwhile using the simplified operative protocol can significantly increase the operative efficiency of TF-TAVR.


Subject(s)
Aortic Valve Stenosis , Transcatheter Aortic Valve Replacement , Aortic Valve , Aortic Valve Stenosis/etiology , Aortic Valve Stenosis/surgery , Femoral Artery/surgery , Humans , Retrospective Studies , Risk Factors , Time Factors , Transcatheter Aortic Valve Replacement/methods , Treatment Outcome
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