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1.
Zhonghua Fu Chan Ke Za Zhi ; 56(12): 868-875, 2021 Dec 25.
Artigo em Chinês | MEDLINE | ID: mdl-34954966

RESUMO

Objective: To investigate the impact of body mass index (BMI) on clinical effect and fresh cycle embryo transfer pregnancy outcome of in vitro fertilization or intracytoplasmic sperm injection (IVF/ICSI) in patients with early follicular phase prolonged protocol. Methods: From January 1st, 2018 to July 1st, 2020, 2 257 cases of early follicular long-term protocol in IVF/ICSI and embryo transfer were collected using the clinical assisted reproductive technologies management system software database of the First Affiliated Hospital of Nanjing Medical University. Patients were divided into three groups according to the recommended Asian BMI cut-off points: low body mass group (BMI<18.5 kg/m2), normal body mass group (18.5≤BMI<24.0 kg/m2), and high body mass group (BMI≥24.0 kg/m2). The ovarian stimulation characteristics among the groups were investigated. Then 1 741 fresh embryo transfer cycles were selected and divided into three groups as above, and then the ovulation induction and clinical outcomes were analyzed among the groups. Results: There were significant differences in the starting dosage of gonadotrophin (Gn), total dosage of Gn and days of Gn used among the low body mass group, normal body mass group, and high body mass group in the 2 257 IVF/ICSI cycles (all P<0.01). The high body mass group needed the most amount of Gn [(2 159±668) U] and longest Gn days [(12.3±2.5) days]. The estradiol and progesterone levels [(7 474±4 852) pmol/L, (3.4±1.9) nmol/L] on hCG trigger day in the high body mass group were lower than those in the low body mass group and normal body mass group (all P<0.01). The oocytes retrieved in high body mass group (8.4±4.1) were significantly lower than normal body mass group (P<0.05). The normal fertilization number, the available embryo number and high quality embryo number were all lower in the high body mass group than other two groups, while no significant difference showed (all P>0.05). In 1 741 cycles of fresh embryo transfer, the average number of transplanted embryos in the low body mass group (1.2±0.4) was decreased compared with the other two groups (P<0.05), while the biochemical pregnancy rate, clinical pregnancy rate and live birth rate in the normal body mass group were higher compared with the other two groups, but the differences showed no statistically significance (all P>0.05). Conclusions: Increased BMI might affect ovulation induction response in early follicular phase prolonged protocol IVF/ICSI patients, leading to the increase of Gn dosage and the extension of Gn induction days. Although there is no significant difference in pregnancy outcome among different BMI groups, considering the increased risk of adverse perinatal outcomes during subsequent pregnancy in overweight or obese patients, certain attention should still be paid to the control of BMI in patients receiving assisted reproduction treatment with early follicular phase prolonged protocol.


Assuntos
Fase Folicular , Injeções de Esperma Intracitoplásmicas , Índice de Massa Corporal , Transferência Embrionária , Feminino , Fertilização In Vitro , Humanos , Indução da Ovulação , Gravidez , Taxa de Gravidez , Técnicas de Reprodução Assistida , Estudos Retrospectivos
2.
Zhonghua Liu Xing Bing Xue Za Zhi ; 42(12): 2201-2207, 2021 Dec 10.
Artigo em Chinês | MEDLINE | ID: mdl-34954987

RESUMO

Real world data (RWD) refers to the data generated in routine clinical practices, daily life, and real work environment and has been widely used in clinical or public health research. Still, issues related to the quality of RWD, such as incompleteness, inconsistency, and inaccuracy, would affect the validity of real-world research. To overcome the challenges due to the lack of standardization of real world source data, case report form based on clinical data interchange standards consortium (CDISC-CRF) on certain diseases was developed to promote the ecology construction of RWD based on the data standards set by the CDISC which has been widely used. Firstly, we described how to apply data standards to make up the gap between RWD and real world evidence. Then, the process was designed to build RWD ecology based on CDISC-CRF, in which the development technology of CDISC-CRF form is mainly introduced. Finally, the application prospect and significance of building real-world data based on disease-specific CDISC-CRF are described. It is believed that the present paper can provide a new idea for promoting the ecology construction of RWD in China.


Assuntos
Análise de Dados , China , Humanos
3.
J Dairy Sci ; 2021 Dec 23.
Artigo em Inglês | MEDLINE | ID: mdl-34955275

RESUMO

Identification of selection signature is important for a better understanding of genetic mechanisms that affect phenotypic differentiation in livestock. However, the genome-wide selection responses have not been investigated for the production traits of Chinese crossbred buffaloes. In this study, an SNP data set of 133 buffaloes (Chinese crossbred buffalo, n = 45; Chinese local swamp buffalo, n = 88) was collected from the Dryad Digital Repository database (https://datadryad.org/stash/). Population genetics analysis showed that these buffaloes were divided into the following 2 groups: crossbred buffalo and swamp buffalo. The crossbred group had higher genetic diversity than the swamp group. Using 3 complementary statistical methods (integrated haplotype score, cross population extended haplotype homozygosity, and composite likelihood ratio), a total of 31 candidate selection regions were identified in the Chinese crossbred population. Here, within these candidate regions, 25 genes were under the putative selection. Among them, several candidate genes were reported to be associated with production traits. In addition, we identified 13 selection regions that overlapped with bovine QTLs that were mainly involved in milk production and composition traits. These results can provide useful insights regarding the selection response for production traits of Chinese crossbred buffalo, as identified candidate genes influence production performance.

4.
Zhonghua Yu Fang Yi Xue Za Zhi ; 55(12): 1377-1382, 2021 Dec 06.
Artigo em Chinês | MEDLINE | ID: mdl-34963232

RESUMO

Since the Global Polio Eradication Initiative was launched by the World Health Assembly in 1988, significant progress has been made in global polio prevention and control. But the occurrence of vaccine-associated paralytic poliomyelitis cases and vaccine-derived poliovirus related cases have become a major challenge during the post-polio era. While coronavirus disease 2019(COVID-19) has brought serious disease burden and economic burden to all countries in the world, prevention and control of vaccine-preventable infectious diseases such as polio should not be neglected under the background of the global common fight against COVID-19. Taking the type Ⅲ VDPV cycle event in Shanghai as an example, the paper discussed how to do a good job of routine inoculation under the prevention and control of COVID-19 to strictly prevent the outbreak of vaccine-preventable infectious diseases.


Assuntos
COVID-19 , Poliovirus , China , Humanos , Vacina Antipólio Oral , SARS-CoV-2 , Vacinação
5.
Zhonghua Yu Fang Yi Xue Za Zhi ; 55(12): 1486-1490, 2021 Dec 06.
Artigo em Chinês | MEDLINE | ID: mdl-34963248

RESUMO

To explore the correlation between the changes of the intestinal flora of newly treated pulmonary tuberculosis patients and the immune indicators of the body, and to provide a reference for the prevention and treatment of pulmonary tuberculosis. A single-center and case-control study was adopted. From October 2020 to April 2021, 43 patients with newly diagnosed tuberculosis in the Department of Tuberculosis, Affiliated Changsha Central Hospital,University of South China were selected as the control group. 43 cases of newly treated pulmonary tuberculosis (PTB), 43 healthy control (HC) during the same period, collected fresh feces and whole blood of subjects, and used Illumina Hiseq high-throughput sequencing technology to analyze 16S of all microorganisms in feces The V4 region of rRNA was amplified and sequenced, and the structure of the intestinal flora was analyzed by QIIME software. Use flow cytometry to determine the subject's immune indicators (CD3+, CD4+, CD8+, CD4+CD25+CD127-Treg, CD14+CD16+, CD14+CD16-), and analyze the changes in intestinal flora and immune function in newly treated pulmonary tuberculosis patients Inherent connection. The χ² test, t test, and Wilcox rank sum test were used to analyze the differences in age, gender, α diversity, and relative abundance of the two groups of people. Compared with the HC group, the alpha diversity of the intestinal flora in the PTB group decreased (shannon index: t=3.906, P=0.000 2; simpson index: Z=553, P=0.004 7; chao1 index: t=5.395, P=0.000 0). ß diversity analysis showed that there were significant differences in the structure of the intestinal flora between the two groups (P=0.000). Species difference analysis showed that at the phylum level, the relative abundance of Firmicutes in the PTB group was significantly lower than that in the HC group (Z=486.0, P=0.000 5). At the genus level, there are 15 different bacterial genera between the two groups. In the PTB group, bifidobacterium, enterococcus, lactobacillus, anaerostipes, the relative abundance of the above 5 genera of veillonella is higher than that of the HC group (P<0.05); Butyricimonas, clostridium, and broutella (blautia), coprococcus, dorea, lachnospira, roseburia, faecalibacterium, ruminococcus, the relative abundance of 10 bacterial genera including dialister was lower than that of the HC group (P<0.05). Comparison of immune indexes between groups showed that CD14+CD16+monocytes (%) in the PTB group were higher than those in the HC group (t=2.456, P=0.001 6<0.05), while CD14+CD16-monocytes (%) were lower than HC (t=-4.368, P=0.000<0.05), while the differences in CD3+, CD4+, CD8+, CD4+/CD8+and Treg (CD4+CD25+CD127-) were not statistically significant (P>0.05). Spearman correlation analysis showed that Firmicutes in the PTB group was negatively correlated with CD4+/CD8+, CD14+CD16+(r=-0.218, P=0.048; r=-0.245, P=0.025), and positively correlated with CD14+CD16-Correlation (r=0.250, P=0.022); At the genus level, Faecalis is positively correlated with CD4+/CD8+and CD4+(r=0.250, P=0.023; r=0.258, P=0.019); Rosella and CD3+, CD8+and CD14+CD16-are positively correlated (r=0.27, P=0.024; r=0.219, P=0.046; r=0.027, P=0.039), and negatively correlated with CD14+CD16+(r=-0.280, P= 0.01). Changes in the structure of the intestinal flora of newly treated pulmonary tuberculosis patients may be one of the influencing factors of the immune function of the body. Targeted optimization of the structure of the intestinal flora and improvement of the body's immunity may be used as an effective auxiliary treatment for pulmonary tuberculosis.


Assuntos
Microbioma Gastrointestinal , Tuberculose Pulmonar , Estudos de Casos e Controles , Correlação de Dados , Humanos , Monócitos
6.
Zhonghua Jie He He Hu Xi Za Zhi ; 44(12): 1078-1084, 2021 Dec 12.
Artigo em Chinês | MEDLINE | ID: mdl-34915621

RESUMO

Objective: A phenotypic and gene mutation study was carried out to investigate the molecular mechanism of inherited protein C deficiency in a family with the disorder. Methods: The proband was a 21-year-old male who was admitted to hospital due to swelling of the left lower limb for 3 months and hemoptysis with chest tightness for more than 1 week. The clinical diagnosis was pulmonary embolism and deep vein thrombosis of the left lower limb. Plasma protein C activity, protein S activity and antithrombin Ⅲ activity were detected in the patient and their family members. Whole exon sequencing was used to analyze a total of 199 genes associated with thrombus susceptibility of the patient. After the mutation was found and Sanger sequencing was used to verify whether the family members carried the same gene mutations as the patient. The conservation of amino acid mutation sites was analyzed by using the software ClustalX-2.1-win. The damage of mutations to protein function was analyzed by PROVEAN and PolyPhen-2 online bioinformatics software. Finally, PyMOL 2.3 software was used to analyze the protein model. Results: The patient and four family members all had the identical heterozygous missense mutation c.1019 C>T (p. Thr340Met) in exon 9 of the protein C gene, resulting in various degrees of protein C deficiency. The Thr340 amino acid was discovered to be poorly conserved in seven homologous species after investigation with the clustalx-2.1-win software. P. Thr340Met was found to be a detrimental mutation by both PROVEAN and PolyPhen-2 online bioinformatics program. The mutation of Thr340 to Met340 caused the hydrogen bond between Thr340 and Gln226 to dissolve, changing the spatial arrangement of protein C, which might be the main explanation for the lower protein C activity, according to the protein model. Conclusions: Protein C deficiency in this family was caused by a hybrid missense mutation C. 1019 C>T (p. Thr340Met). Protein C deficiency may present in varying severity among mutation carriers at the same locus of the protein C gene. Whole-exome sequencing may be considered in young patients with spontaneous venous thromboembolism, even if there is no relevant family history.


Assuntos
Deficiência de Proteína C , Biologia Computacional , Humanos , Masculino , Mutação , Linhagem , Fenótipo , Deficiência de Proteína C/genética , Adulto Jovem
7.
Beijing Da Xue Xue Bao Yi Xue Ban ; 53(6): 1128-1132, 2021 Dec 18.
Artigo em Chinês | MEDLINE | ID: mdl-34916693

RESUMO

OBJECTIVE: To analyze the clinical characteristics of aldosterone-producing adenoma (APA) subtypes in primary aldosteronism (PA) and the application value of captopril challenge test (CCT) in adenomas. And to find out the clinically specific non-invasive index for identifying APA subtypes from PA. METHODS: The clinical data of hospitalized patients with hypertension were retrospectively collected. All the patients were conducted with the CCT and 90 patients with PA were confirmed. Among them, 34 patients were confirmed to have APA by surgery. The clinical indicators of the two groups of patients including plasma aldosterone concentration (PAC), aldosterone inhibition rate (%), and aldosterone to renin ratio (ARR) before and after the CCT were compared, the receiver operating characteristic (ROC) curves for the relevant indicators before and after the CCT drawn, and the areas under the curve (AUC) compared. The ROC curves were used to analyze the efficiency of the different CCT diagnostic criteria for diagnosing APA. RESULTS: Compared with the PA group, the duration of hypertension was shorter, the incidence of hypokalemia was higher, and the average serum potassium level was lower when APA was diagnosed. There were no significant differences in blood pressure level, gender, serum sodium and body mass index between the two groups. Compared with PA population, APA group had higher PAC and ARR whether before or after the CCT, but lower plasma renin concentration (PRC). In APA patients, the mean degree of PAC declined after CCT was approximately 5.7%, but 5% with that of PA. As for diagnosing, ARR before or after CCT had diagnostic value for APA, in which the ARR cut-off point was 7.12, which yielded a sensitivity and specificity of 35.85% and 77.78%. The cut-off point of ARR after CCT was 4.23, with a sensitivity of 71.43% and specificity of 62.22%. For the diagnosis, the ARR before and after CCT were of no significant difference. However, the diagnostic specificity of ARR>7.12 combined with hypokalemia was up to 80%. CONCLUSION: ARR before or after CCT have clinical value for the diagnosis of APA from PA, when combined with hypokalemia yielded high specificity.


Assuntos
Adenoma , Captopril , Adenoma/diagnóstico , Aldosterona , Humanos , Estudos Retrospectivos
8.
Eur Rev Med Pharmacol Sci ; 25(21): 6670-6677, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-34787871

RESUMO

OBJECTIVE: Numerous studies show association of particular matter (PM) in air pollution with cardiovascular dysfunction, and increased morbidity and mortality. The main mechanisms of this adverse effect involve increasing oxidative stress, inflammatory responses, and genotoxicity. Several recent studies investigated the ability of PM2.5 to cause myocardial injury in animal models using various methods, such as intratracheal instillation, intraperitoneal injection or tail vein injection. The purpose of this study is to explore the PM2.5-induced myocardial inflammatory reaction in rats through the new technology of multi-functional aerosol concentration and enrichment system. MATERIALS AND METHODS: Thirty Wistar rats were divided into two groups, 15 in each group. In the exposure group, PM2.5 multi-functional aerosol concentration and enrichment system was used for PM2.5 online oral and nasal exposure (5 times a week, 4 hours exposure, for the duration of 3 months). Histopathological examination of the left ventricular myocardial tissue of both groups was done using hematoxylin and eosin (H&E) staining. Ultrastructural changes of the heart specimens were assessed using electron microscopy. The levels of CRP and ICAM-1 were detected by immunohistochemistry. RESULTS: Compared with the control group, myocardial tissue of the exposure group exhibited edema, widened myocardial space and infiltration of inflammatory cells. There was nuclear pyknosis, mitochondrial membrane and spinal fusion, rough endoplasmic reticulum expansion, degranulation and cell swelling in the exposed group. The area of CRP positive staining in the exposed group was 3.7-fold higher than that in the control group (p < 0.05), and the ICAM-1 positive staining area of the exposed group was 12-fold higher than that of the control group (p < 0.05). CONCLUSIONS: Prolonged exposure to PM2.5 inhalation promotes significant upregulation of ICAM-1 and CRP expression in myocardial tissues, ultrastructural alterations in myocardial cells, and influx of inflammatory cells.

9.
Poult Sci ; 101(1): 101562, 2021 Oct 23.
Artigo em Inglês | MEDLINE | ID: mdl-34823184

RESUMO

Zinc (Zn) deposition in egg yolk is essential for the rapid growth and complete development of the avian embryo. Thus, it is crucial to obtain maximal Zn mobilization at an appropriate time during development in favor of the survival of avian embryos. The aim of this study was to study the developmental change of Zn mobilization and gene expression related to key Zn transport proteins between the yolk sac membrane and embryonic liver from the incubation d 17 (E17) to d 32 (E32) during duck embryonic developing. The weights of duck embryo, embryo without yolk sac, and embryonic liver increased as well as the yolk sac weight decreased linearly (P < 0.0001) when incubation day increased. The Zn concentration in the yolk sac did not change from E17 to E29 and only declined significantly from E29 to E32 of duck embryos, while hepatic Zn level decreased linearly as with the increased incubation time (P < 0.01). When the incubation day increased, the decreased Zn amount in the yolk sac and the increased Zn amount in the embryonic liver were observed (P < 0.0001). The calculated transfer-out rate of Zn in the yolk sac and transfer-in rate of Zn in livers were both increased from E23-26 to E29-32 (P < 0.01). Among E17, E23 and E29, the solute carrier family 39 member (ZIP) of ZIP10, ZIP13, and ZIP14 genes mRNA expressions were increased in yolk sac membrane but were decreased in the embryonic liver, while metallothionein 1 mRNA expression was increased both in the yolk sac membrane and liver (P < 0.05). In conclusion, yolk sac membrane and embryonic liver tissues displayed the similar developmental patterns of Zn mobilization and metallothionein 1 mRNA expression from E17 to E32 during duck embryonic developing. The appropriate time of the maximal rate of Zn mobilization were observed between E29 and E32 of duck embryo, associated with the significant changes of gene expression related to some key Zn transport proteins on E29 in yolk sac membrane and liver tissues.

10.
Zhonghua Xin Xue Guan Bing Za Zhi ; 49(11): 1108-1116, 2021 Nov 24.
Artigo em Chinês | MEDLINE | ID: mdl-34775721

RESUMO

Objective: To explore the clinical implication of tissue-related biomarkers in patients with acute aortic dissection (AAD). Methods: It was a cross-sectional study. Ten Stanford Type A AAD patients, who were diagnosed and surgically treated in the Department of Cardiology, First Affiliated Hospital of Xinjiang Medical University, from December 2018 to August 2019, were selected as the case group. Meanwhile, 10 patients with atherosclerotic heart disease, who underwent coronary artery bypass grafting (CABG), were selected as control group. The ascending aorta tissue specimens from patients of the two groups were collected during the operation. Four-dimensional non-standard quantitative proteomics technology (4D-LFQ) was used to detect the protein profile of ascending aorta tissue specimens of the two groups and to screen out differentially expressed proteins and analyze their biological functions. Precise quantification of the selected target proteins was achieved by parallel response monitoring (PRM). Results: A total of 3 985 proteins were identified by 4D-LFQ technology, among which 3 350 proteins could be quantified. There were 39 proteins were significantly upregulated and 47 proteins were significantly downregulated in AAD group. The results of biological function analysis showed that most of the differentially expressed proteins were located in the extracellular, and their functions were mainly involved in cell migration and proliferation, inflammatory cell activation, cell contraction, and muscle organ development. The 15 selected proteins underwent precise quantification by PRM, and the results showed that integrin α-Ⅱb (ITGA2B), integrin α-M (ITGAM), integrin ß-2 (ITGB2), integrin ß-3 (ITGB3) were significantly upregulated in the ascending aorta tissue of AAD patients. Conclusion: ITGA2B, ITGAM, ITGB2, and ITGB3 are highly expressed in aortic tissues of patients with AAD, which may be used as biomarkers for the diagnosis of AAD patients.


Assuntos
Aneurisma Dissecante , Aorta , Biomarcadores , Ponte de Artéria Coronária , Estudos Transversais , Humanos
12.
Zhonghua Shao Shang Za Zhi ; 37(9): 846-852, 2021 Sep 20.
Artigo em Chinês | MEDLINE | ID: mdl-34645150

RESUMO

Objective: To establish a clinical prediction model for infection risk at the placement sites of skin and soft tissue expanders (hereinafter termed as expanders) and to validate the predictive value of the model. Methods: A retrospective observational study was conducted. Totally 2 934 patients who underwent skin and soft tissue dilatation surgery in the Department of Plastic Surgery of the First Affiliated Hospital of Air Force Medical University from January 2009 to December 2018 and met the selection criteria were included. There were 1 867 males and 1 067 females, with a median age of 18 years. Totally 3 053 skin and soft tissue expansion procedures were performed with 4 266 expanders implanted. The following indexes were selected as predictor variables, including patients' age, gender, marital status, ethnicity, hospital admission, surgical indication, disease duration, with/without history of smoking, history of drinking, history of blood transfusion, history of underlying diseases, and inability to use cephalosporin antibiotics due to allergy, number of expander in a single placement, rated volume of expander, water injection rate of expander in the first time, placement site of expander, anesthesia method, duration of operation, and with/without postoperative hematoma evacuation, and infection at the placement site of expander as the outcome variable. Univariate analysis of the data was performed using least absolute shrinkage and selection operator (LASSO) regression to screen the potential risk factors affecting infection at the placement sites of expanders, the factors selected by the univariate analysis were subjected to binary multivariate logistic regression analysis to screen the independent risk factors affecting infection at the placement sites of expanders, and a nomogram prediction model for the occurrence of infection at the placement sites of expanders was established. The C index and Hosmer-Lemeshow goodness of fit test were used to evaluate the discrimination and accuracy of the model, respectively, and the bootstrap resampling was used for internal verification. Results: The results of LASSO regression showed that age, gender, hospital admission, surgical indication, disease duration, history of drinking, history of heart disease, history of viral hepatitis, history of hypertension, inability to use cephalosporin antibiotics due to allergy, number of expander in a single placement, rated volume of expander, placement site of expander, postoperative hematoma evacuation were the potential risk factors for infection at the placement sites of expanders (regression coefficient=-0.005, 0.170, 0.999, 0.054, 0.510, -0.003, 0.395, -0.218, 0.029, 0.848, -0.116, 0.175, 0.085, 0.202). Binary multivariate logistic regression analysis showed that male, emergency admission, disease duration ≤1 year, inability to use cephalosporin antibiotics due to allergy, rated volumes of expanders ≥200 mL and <400 mL or ≥400 mL, and expanders placed in the trunk or the limbs were the independent risks factors for infection at the placement sites of expanders (odds ratio=1.37, 3.21, 2.00, 2.47, 1.70, 1.73, 1.67, 2.16, 95% confidence interval=1.04-1.82, 1.09-8.34, 1.38-2.86, 1.29-4.41, 1.07-2.73, 1.02-2.94, 1.09-2.58, 1.07-4.10, P<0.05 or P<0.01). The C index for evaluating the discriminative degree of the model was 0.63, the Hosmer-Lemeshow goodness of fit test for evaluating the accuracy of the model showed P=0.685, and the C index for internal validation by the bootstrap resampling was 0.60. Conclusions: Male, emergency admission, disease duration ≤1 year, inability to use cephalosporin antibiotics due to allergy, rated volume of expander ≥200 mL, and expanders placed in the trunk or the limbs are the independent risk factors for infection at the placement sites of expanders. The clinical prediction model for infection risk at the placement sites of expanders was successfully established based on these factors and showed a certain predictive effect.


Assuntos
Procedimentos Cirúrgicos Reconstrutivos , Dispositivos para Expansão de Tecidos , Adolescente , Feminino , Humanos , Masculino , Modelos Estatísticos , Prognóstico , Estudos Retrospectivos , Expansão de Tecido
13.
Artigo em Chinês | MEDLINE | ID: mdl-34666446

RESUMO

Objective: To analyze the clinical manifestations of a patient with branchiootic syndrome(BOS) and her families and to carry out genetic testing in order to specify the biological pathogenesis. Methods: Clinical data of the patient and her families were collected. Genomic DNA in the peripheral blood of the proband and her family members was extracted. All exons of 406 deafness-related susceptible genes as well as their flanking regions were sequenced by high-throughput sequencing, and the mutation sites of the proband and her parents were validated by Sanger sequencing. Results: There were nine members in three generations, of whom four presented with hearing loss, preauricular fistula and branchial fistula which met the diagnostic criteria of BOS. Proband and her mother presented with auricle malformation and inner ear malformation. And no one had abnormalities in the kidneys of all the patients. Pedigree analysis revealed that the mode of inheritance in the family was consistent with the autosomal dominant pattern. Mutational analysis showed that all the affected patients detected a heterozygous frameshift variation c.1255delT in the EYA1 gene, which had not been reported. Genotype and phenotype were co-isolated in this family. Such a frameshift variation produced a premature termination codon, thereby causing premature termination of translation (p.C419VFS*12). ACMG identified that the mutation was pathogenic. This mutation was novel and not detected in controls. A heterozygous missense variation mutation c.403G>A(p.G135S) in EYA1 gene was also detected in three members of this family. ACMG identified that the mutation clinical significance was uncertain. However, two of whom were normal, which seemed the disease was not caused by this mutation in this family. Conclusions: A novel frameshift mutation in EYA1(c.1255delT) is the main molecular etiology of BOS in the Chinese family. This study expands the mutational spectrum of EYA1 gene. The clinical manifestations are heterogeneous among patients in this family. The diagnosis of BOS should combine gene tests with clinical phenotypes analysis.


Assuntos
Síndrome Brânquio-Otorrenal , Síndrome Brânquio-Otorrenal/genética , Análise Mutacional de DNA , Feminino , Testes Genéticos , Humanos , Peptídeos e Proteínas de Sinalização Intracelular/genética , Mutação , Proteínas Nucleares , Linhagem , Proteínas Tirosina Fosfatases/genética
15.
Zhonghua Yi Xue Za Zhi ; 101(37): 2934-2939, 2021 Oct 12.
Artigo em Chinês | MEDLINE | ID: mdl-34638185

RESUMO

Chronic ankle instability is a chronic sports injury disease characterized by recurrent sprains, feeling of instability, pain, swelling and other symptoms after an initial sprain. Research on the pathological mechanism of chronic ankle instability still cannot explain the diversity of symptoms. In the past, the surgical indications for chronic ankle instability only emphasized mechanical joint laxity. However, most patients with chronic symptoms after a lateral ankle sprain may not have a typical complaint of mechanical instability. More patients presented with persistent pain or functional instability as the chief complaint. Surgical treatment also has a certain effect on the symptoms of functional instability, but the surgical indications of functional instability are mainly based on subjective symptoms. At present, there is a lack of objective indicators for surgery, which is still controversial. Further in-depth research on the mechanism of chronic ankle instability is needed to guide the formulation of diagnosis and treatment strategies.


Assuntos
Traumatismos do Tornozelo , Instabilidade Articular , Entorses e Distensões , Tornozelo , Articulação do Tornozelo , Humanos
16.
Zhonghua Yi Xue Za Zhi ; 101(37): 2982-2987, 2021 Oct 12.
Artigo em Chinês | MEDLINE | ID: mdl-34638188

RESUMO

Objective: To study the specific alignment and structure of cancellous bone within the talus in order to understand the mechanism of force transmission within the bone and to provide some theoretical basis for the repositioning of talar fractures and the design of prostheses. Methods: In January 2020, a total of 40 adult talar bone specimens were scanned by Micro-CT in 20 pairs obtained from the Department of Orthopedics of Tianjin Hospital. The bone volume fraction, bone surface area fraction, trabecular thickness, number of trabeculae, trabecular pattern factor of the head, neck and body of the talus were calculated, and the differences in each parameter were compared between different parts of the same side and different sides of the same part, respectively. The talus was cut into 2 mm thick slices in the coronal, sagittal and horizontal planes using a hard tissue slicer, and the slices were then scanned using high-resolution X-rays to describe the bone structure. Results: There were no statistically significant differences between the medial and lateral talar and right and left side in lateral trabecular bone volume fraction, bone surface area fraction, trabecular thickness, trabecular number, trabecular pattern factors (all P>0.05). The number of trabeculae in the talar head, neck and body was 1.608±0.150, 1.639±0.142 and 1.749±0.159, respectively; trabecular thickness (µm) in the talar head, neck and body was 0.378±0.054, 0.370±0.053 and 0.331±0.062, respectively; and the trabecular pattern factors (mm-1) in the talar head, neck and body was -0.407±0.699, -0.478±0.848 and -1.029±0.851, respectively. There were significant differences between talar head, neck and the talar body trabeculae in terms of the number of trabeculae, trabecular thickness,trabecular pattern factor parameters(all P<0.05). The structure of the talar body trabeculae was found to consist of plate trabeculae arranged vertically parallel to each other in the coronal, sagittal and horizontal planes. The talar neck trabeculae were twisted, external-superior to internal-inferior reticular plate structure that travelled posteriorly and anteriorly, and the talar head trabeculae consisted of similarly parallel aligned semi-arc-shaped external-superior and internal-inferior trabeculae. Conclusion: The talar trabeculae are clearly directional and functional, so anatomical reduction should be achieved after the fracture; at the same time, the design of the talar prosthesis should take into account the stress distribution and direction of the prosthesis during walking and standing.


Assuntos
Tálus , Articulação do Tornozelo , Radiografia , Tálus/diagnóstico por imagem , Microtomografia por Raio-X , Raios X
17.
Zhonghua Xin Xue Guan Bing Za Zhi ; 49(10): 1000-1011, 2021 Oct 24.
Artigo em Chinês | MEDLINE | ID: mdl-34674438

RESUMO

Objective: To analyze the effects of different types of sodium-glucose cotransporter 2 inhibitors (SGLT2i) on 24-hour ambulatory blood pressure in patients with type 2 diabetes mellitus and hypertension. Method: In this meta-analysis, we searched for randomized controlled trials on the effect of SGLT2i on 24-hour ambulatory blood pressure in patients with type 2 diabetes and hypertension. Three databases, namely PubMed, Web of Science and Cochrane Library, were searched. The search was organized on the concept of 3 conceptual groups: the first group contained terms used to describe SGLT2i, the second group contained terms related to blood pressure, and the third group contained terms used to describe randomized controlled trials. The search time was from the establishment of the database to December 2020. The inclusion and exclusion criteria were formulated in accordance with the requirements of the Cochrane systematic review. According to whether the heterogeneity of the study was significant or not, a random effect model or a fixed effect model were used to conduct the analysis on the impact of different types of SGLT2i on 24-hour ambulatory blood pressure and day and night blood pressure in patients with type 2 diabetes and hypertension. Further subgroup analysis was performed to define potential factors, which might lead to clinical heterogeneity. Results: Seven clinical trials were finally included. The result of the meta-analysis showed that compared with placebo group, SGLT2i could reduce the 24-hour dynamic systolic blood pressure of patients with type 2 diabetes and hypertension by 4.36 mmHg (1 mmHg=0.133 kPa). Reduction was 4.59, 3.74, 5.06, and 3.64 mmHg by canagliflozin, dapagliflozin, empagliflozin, and ertugliflozin respectively; SGLT2i could reduce the 24-hour dynamic diastolic blood pressure of patients with type 2 diabetes and hypertension by 2.20 mmHg, and the reduction was 2.30, 1.22, 2.00, and 2.69 mmHg by canagliflozin, dapagliflozin, empagliflozin and ertugliflozin respectively. SGLT2i could reduce the daytime systolic blood pressure of patients with type 2 diabetes and hypertension by 5.25 mmHg, and reduction was 5.38, 4.87, 6.00, and 4.37 mmHg by canagliflozin, dapagliflozin, empagliflozin and ertugliflozin, respectively. Simultaneously, SGLT2i could reduce the diastolic blood pressure of patients with type 2 diabetes and hypertension by 2.62 mmHg, and the reduction was 2.56, 2.47, and 2.80 mmHg by canagliflozin, empagliflozin and ertugliflozin, respectively. SGLT2i could reduce the nighttime systolic blood pressure of patients with type 2 diabetes and hypertension by 3.62 mmHg, and the reduction was 2.09, 2.06, 3.92, and 2.45 mmHg by canagliflozin, dapagliflozin, empagliflozin and ertugliflozin, respectively. At the same time, SGLT2i could reduce the nighttime diastolic blood pressure of patients with type 2 diabetes and hypertension by 1.60 and 1.51 mmHg, the reduction was 1.53 and 2.58 mmHg by canagliflozin, empagliflozin and ertugliflozin, respectively. Conclusion: SGLT2i can reduce 24-hour ambulatory blood pressure in patients with type 2 diabetes and hypertension.


Assuntos
Diabetes Mellitus Tipo 2 , Hipertensão , Inibidores do Transportador 2 de Sódio-Glicose , Pressão Sanguínea , Monitorização Ambulatorial da Pressão Arterial , Diabetes Mellitus Tipo 2/complicações , Diabetes Mellitus Tipo 2/tratamento farmacológico , Humanos , Hipertensão/complicações , Hipertensão/tratamento farmacológico , Inibidores do Transportador 2 de Sódio-Glicose/uso terapêutico
18.
Zhonghua Zhong Liu Za Zhi ; 43(10): 1132-1139, 2021 Oct 23.
Artigo em Chinês | MEDLINE | ID: mdl-34695906

RESUMO

Objective: To explore the efficacy and safety of paclitaxel liposomes compared to paclitaxel with platinum in concurrent chemoradiotherapy for unresectable cervical carcinoma. Methods: SinoMed, CNKI, WanFang MED ONLINE, VIP, PubMed, MEDLINE, Cochrane Library, Embase and ClinicalTrials.gov were searched to collect the papers or clinical studies of paclitaxel liposomes and paclitaxel combined with platinum in concurrent chemoradiotherapy for unresectable cervical carcinoma from the inception to January 15th 2021 in Chinese and English. Two independent reviewers screened the literatures, extracted the data and assessed the bias of the included studies. Meta-analysis was performed using RevMan 5.4 and R software. Results: Totally 9 papers involving 666 patients with unresectable cervical carcinoma were included. The results of meta-analysis indicated that compared to paclitaxel combined with platinum in concurrent chemoradiotherapy for unresectable cervical carcinoma, paclitaxel liposomes combined with platinum exhibited superiority in near-term efficacy (complete response + partial response) [81.4%(272/334) vs 68.7%(228/332), RR=1.19; 95% CI: 1.09, 1.29, P=0.000 1]; substantially decreased the incidence rates of blood system disorders [myelosuppressio, 50.3%(168/334)vs 65.1%(216/332)], gastrointestinal disorders [34.4%(115/334) vs 55.1%(183/332)], alopecia [42.2%(94/223)vs 63.3%(140/221)], allergic reaction [11.6% (23/198)vs 27.6%(54/196), P≤0.000 1], peripheral neuritis [43.0%(52/121) vs 54.9%(67/122)], or joint and muscle pain [20.3%(16/79) vs 34.6%(28/81), P<0.050 0]. Conclusion: Compared to paclitaxel combined with platinum in concurrent chemoradiotherapy for unresectable cervical carcinoma, paclitaxel liposomes is superior in near-term efficacy, and exhibits better safety.


Assuntos
Carcinoma , Paclitaxel , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Quimiorradioterapia , Humanos , Lipossomos , Platina
19.
Zhonghua Er Ke Za Zhi ; 59(10): 836-840, 2021 Oct 02.
Artigo em Chinês | MEDLINE | ID: mdl-34587679

RESUMO

Objective: To further understand the clinical features, treatment efficacy and risk factors for poor prognosis in infantile-onset renal tumors. Methods: Clinical data of 45 cases of infantile-onset renal tumors from June 2011 to November 2019 in Peking University First Hospital, Beijing Children's Hospital, Beijing Tongren Hospital and Beijing Shijitan Hospital were analyzed retrospectively. The clinical features were summarized and the prognoses were evaluated. Multi-disciplinary diagnosis and treatment was used, including surgery, chemotherapy and radiotherapy. Kaplan-Meier analysis was used to calculate the overall survival rate and the event-free survival rate, while the chi-square test was used to analyze the risk factors for poor prognosis. Results: Among 45 patients, 24 were males and 21 females. The age of onset was 7 (ranged 3-11) months, and the length of tumor at initial diagnosis was 9.7 (ranged 4.9-25.0)cm. The International Society of Pediatric Oncology (SIOP) staging: 5 cases (11%) were in stage Ⅰ, 22 cases in stage Ⅱ (49%), 8 cases in stage Ⅲ (18%), 6 cases in stage Ⅳ (13%), and 4 cases in stage Ⅴ (9%). Risk groups included 5 cases (11%) in the low-risk group, 22 cases (49%) in the intermediate-risk group, and 18 cases (40%) in the high-risk group. Forty-four cases (98%) did not receive preoperative biopsy, 26 cases (58%) received preoperative chemotherapy, 39 cases (87%) received postoperative chemotherapy, and 2 cases (4%) received three-dimensional conformal radiotherapy. The 5-year overall survival rate was (83±7)%, and the 5-year event-free survival rate was (76±8)%. Hematuria as the first symptom (3/8 vs. 83% (30/36), χ²=7.005, P=0.024), tumor long diameter≤8 cm (5/11 vs. 85% (28/33), χ²=5.606, P=0.027) and high-risk pathological group (7/18 vs.100% (26/26), χ²=21.928, P<0.01) were risk factors for poor prognosis of children with renal tumors in this group. Conclusion: The prognosis of children with infantile-onset renal tumors is fairly well, nevertheless the prognosis is poor in patients with hematuria as the first symptom and in high-risk pathological group.


Assuntos
Neoplasias Renais , Feminino , Humanos , Lactente , Neoplasias Renais/diagnóstico , Neoplasias Renais/terapia , Masculino , Estadiamento de Neoplasias , Prognóstico , Estudos Retrospectivos , Taxa de Sobrevida , Resultado do Tratamento
20.
BJOG ; 2021 Sep 17.
Artigo em Inglês | MEDLINE | ID: mdl-34532971

RESUMO

OBJECTIVE: The antenatal screening strategy remains inadequate for eliminating congenital syphilis. To further eliminate maternal fetal transmission, preconception syphilis screening is considered an option. In this study, we investigated syphilis seropositivity and intra-couple discordance among married couples planning a pregnancy in China to provide essential baseline evidence for preconception syphilis screening. DESIGN: Population-based survey. SETTING: National preconception registered data. POPULATION: Married Chinese couples planning conception within 6 months between 2013 and 2018. METHODS: Syphilis was screened using rapid plasma reagin (RPR); infection self-reporting and sociodemographic characteristics were collected through questionnaires and medical records, respectively. r 3.2.2 and arcgis 10.2 were used for statistical analyses and geographic mapping. MAIN OUTCOME MEASURES: RPR seropositivity. RESULTS: Among 31 955 041 couples, 29 737 172 (93.06%) had complete RPR results for both spouses; of those, 0.62% (186 100) were seropositive, with dramatic intra-couple discordance, with 0.33% positivity in wives, 0.24% positivity in husbands and 0.05% positivity in both spouses. Across time, both seropositivity and intra-couple discordance remained stable. Seropositivity in different regions varied significantly, with provincial rates ranging geographically from Tibet (0.8%) to Hebei (0.2%) (P < 0.05). Economic level was an independent factor for this regional variation, with seropositivity increasing as gross domestic product income decreased (P < 0.05). CONCLUSIONS: Intra-couple discordance in seropositivity for syphilis is notable among couples, with a considerable rate of pre-existing syphilis before pregnancy. Thus, screening both spouses during integrated preconception health care is recommended for further eliminating maternal-fetal transmission. TWEETABLE ABSTRACT: Intra-couple discordance in seropositivity for syphilis is notable among couples, with a considerable rate of pre-existing syphilis before pregnancy. Screening both spouses during integrated preconception health care is recommended to further eliminate maternal-fetal transmission.

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