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1.
Rev Sci Instrum ; 95(8)2024 Aug 01.
Artigo em Inglês | MEDLINE | ID: mdl-39207188

RESUMO

Electron Beam Ion Traps (EBITs) serve as efficient tools for producing and studying highly charged ions. In response to the diagnostic requirements of upcoming magnetic confinement fusion devices, a medium-energy atomic spectra research platform based on a compact EBIT is developed. This platform achieves a central magnetic field of up to 1.0 T, with electron beam currents reaching 20 mA and electron energies up to 30 keV, similar to the electron temperature on fusion reactors. The developed atomic spectra platform successfully provided spectral data for elements such as argon, xenon, iron, and tungsten. This platform stands as a valuable asset for advancing research in nuclear fusion, particularly concerning impurity spectroscopic diagnostics.

2.
Rev Sci Instrum ; 95(8)2024 Aug 01.
Artigo em Inglês | MEDLINE | ID: mdl-39185928

RESUMO

The Laser Blow-Off (LBO) impurity injection system is a crucial tool for studying impurity transport and plasma behavior. Conducting proactive impurity transport research is challenging on experimental advanced superconducting tokamak (EAST) due to the uncontrollable generation of impurity sources; therefore, it is necessary to develop a laser blow-off impurity injection system for injecting controlled trace impurity particles. This study presents the design and test results of an LBO system for the EAST. The system aims to provide precise and repeatable control over the timing and quantity of impurity injection. The system primarily consists of a laser source, two mirrors, a moveable focusing lens, a target material, and a vacuum system. The movement of the focusing lens is achieved by a three-dimensional displacement system. The operation of the system is completed by a remote control system. With the accurate control system, the laser spot diameter is adjustable, allowing for modification of impurity injection quantity. The test results demonstrate that the system can rapidly detect external trigger signals and ensure precise timing for the impurity injection. Furthermore, this system can also quickly change the focal point of the laser spot, addressing the requirements for impurity injections during the experiments with less than 0.4 mm position error for laser spot focusing. Test results have shown that the aluminum film material can be peeled off by the LBO system when the laser energy exceeds 650 mJ and the smallest ablation spot is about 1 mm. This study is of significant importance for conducting plasma impurity transport research on the EAST.

3.
Rev Sci Instrum ; 95(7)2024 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-39028911

RESUMO

A space-resolved vacuum ultraviolet spectroscopy is employed to measure impurity emission profiles (500-3200 Å) on EAST. This study successfully captures C IV (1548.20 and 1550.77 Å) lines emitted from carbon ions and derives ion temperatures using Doppler broadening and a collision model based on their intensity ratios. Both the emission intensity and ion temperature profiles are determined. However, the calculated results reveal a lower temperature of around 10-20 eV with the collision model, suggesting a potential need for further correction in subsequent calculations. Furthermore, this study explores relative rotation velocities from the Doppler shift, indicating an increase in toroidal rotation velocity with applied neutral beam injection. The measured results exhibit concordance with the charge exchange recombination spectrometer data. Furthermore, during boron powder dropping discharges on EAST, B II (1623.60, 1623.79, 1623.95, 1624.02, 1624.17, and 1624.38 Å) emission lines exhibiting a similar time behavior trend with boron powder injection are identified. Ion temperatures are measured using B II (1362.46 Å) through the Doppler broadening method. These techniques hold significant promise for future impurity analysis at the edge of EAST, providing valuable insights into the behavior of carbon and boron ions.

5.
Zhonghua Yi Xue Za Zhi ; 104(23): 2179-2183, 2024 Jun 18.
Artigo em Chinês | MEDLINE | ID: mdl-38871477

RESUMO

Objective: To investigate the impact of gallbladder cholesterolosis on the morphology of gallstones. Methods: The patients with gallstone who underwent cholecystectomy at the Gallstone Disease Center of East Hospital Affiliated to Tongjin University from December 2020 to October 2021 were retrospectively included. The patients were divided into the case group (sludge-like) and the control group (non-sludge-like stone), based on gallstone morphology. Clinical baseline characteristics between the two groups were compared. The related factors influencing gallstone morphology were analyzed using multivariate logistic regression analysis. Results: A total of 110 patients were included, with 30 cases in the case group (13 males, 17 females), aged 26-73 (54±14) years, 80 cases in the control group (24 males, 56 females), aged 18-75 (45±13) years. The age of the case group was higher than that of the control group (P=0.003). The occurrence rate of occult pancreaticobiliary reflux (OPBR) was higher in the case group compared to the control group [33.3% (10/30) vs 13.8% (11/80), P=0.020]; the occurrence rate of gallbladder cholesterolosis was lower in the case group compared to the control group [30.0% (9/30) vs 73.8% (59/80), P<0.001]. The results of multivariate logistic regression analysis showed that gallbladder cholesterolosis (OR=0.19, 95%CI: 0.07-0.49, P=0.001) was a significant factor associated with sludge-like stones. Conclusion: Gallbladder cholesterolosis can cause the formation of different forms of cholecystolithiasis, and promote the occurrence and development of "solid stones".


Assuntos
Colecistectomia , Colesterol , Vesícula Biliar , Cálculos Biliares , Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Adulto , Idoso , Vesícula Biliar/patologia , Estudos Retrospectivos , Modelos Logísticos , Doenças da Vesícula Biliar
6.
Zhonghua Bing Li Xue Za Zhi ; 53(3): 269-275, 2024 Mar 08.
Artigo em Chinês | MEDLINE | ID: mdl-38433055

RESUMO

Objective: To investigate the clinicopathological characteristics of gastrointestinal tumors with SWI/SNF complex deficiency and to perform a prognostic analysis of the patients. Methods: Gastrointestinal tumor cases with SWI/SNF complex deficiency expression diagnosed at the Department of Pathology, Zhongshan Hospital, Fudan University, Shanghai, China from August 2021 to May 2023 were collected. Hematoxylin and eosin (HE) stained slides were reviewed, and immunohistochemical results were analyzed. Clinical and pathological information was recorded, and relevant literature was reviewed. Results: A total of 36 cases of gastrointestinal tumor with loss of SWI/SNF complex expression were identified, including 28 males (77.8%) and 8 females (22.2%). The average age at diagnosis was 70 years (range 48-85 years). Clinical staging showed 3 cases in stage Ⅰ (8.3%), 12 cases in stage Ⅱ (33.3%), 19 cases in stage Ⅲ (52.8%), and 2 cases in stage Ⅳ (5.6%). Complete or partial loss of ARID1A expression was observed in 20 cases (55.6%); complete or partial loss of SMARCA2 expression was observed in 24 cases (66.7%). SMARCA4 exhibited complete loss of expression in 4 cases (11.1%). Eleven cases (30.6%) showed concurrent complete or partial losses of both ARID1A and SMARCA2 expression. Twelve cases (33.3%) had mismatch repair protein deficiency, all of which were characterized by MLH1/PMS2 absence. Mismatch repair protein deficiency was associated with loss of ARID1A expression (P<0.01). Patients with mismatch repair protein deficiency were also associated with earlier clinical stage and a lower risk of lymph node metastasis compared to the ones with intact mismatch repair proteins (P<0.05). Conclusions: SWI/SNF complex deficiency in gastrointestinal tumors is associated with dedifferentiation and often accompanied by mismatch repair protein deficiency. Compared to the cases with intact mismatch repair proteins, the cases with defective mismatch repair protein have an earlier clinical stage and a lower risk of lymph node metastasis.


Assuntos
Neoplasias Gastrointestinais , Deficiência de Proteína , Feminino , Masculino , Humanos , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Metástase Linfática , China , Coloração e Rotulagem , DNA Helicases , Proteínas Nucleares , Fatores de Transcrição
8.
Zhonghua Nei Ke Za Zhi ; 63(1): 59-65, 2024 Jan 01.
Artigo em Chinês | MEDLINE | ID: mdl-38186119

RESUMO

Objective: Gastric adenocarcinoma of the fundic gland type (GA-FG) is rare and often occurs in patients who are not infected with Helicobacter pylori. The current study analyzed and summarized the clinical, endoscopic, and pathological features of GA-FG, in an effort to improve its diagnosis. Methods: Patients who were diagnosed with GA-FG and treated with endoscopic submucosal dissection (ESD) resection at the Department of Gastroenterology, First Affiliated Hospital of Zhejiang Chinese Medical University from January 1st 2020 to October 1st 2022 were included in the study. Their clinical manifestations, endoscopic features, pathological immunohistochemistry, and other characteristics were analyzed. Results: A total of 14 patients with GA-FG were included in the study, 5 males and 9 females, with a mean age of 59 years. Most had no substantial clinical manifestations. Twelve patients were H. pylori-negative, all patients underwent ESD resection, and all patients survived during the follow-up period of 13±9 months. Eleven patients had postoperative endoscopic follow-up records, and no recurrence was detected. Fifteen lesions were detected (2 were present in 1 patient). Twelve were located in the upper 1/3 of the stomach, 10 were ≤ 1 cm in diameter, 12 had a morphology of type 0-Ⅱa, 8 had visible discoloration changes, and 12 had visible vasodilation on the surface. Magnified endoscopy and narrow-band imaging indicated that 12 of the lesions had enlarged marginal crypt epithelium, without any obvious microvascular pattern abnormalities and no obvious borderline. After resection the pathological specimens were all without vascular infiltration, and there was no atrophy of the mucosa at the edge of the lesion. In immunohistochemistry analyses MUC-2 was negative in all cases. MUC5AC was negative in 11 cases, MUC-6 was positive in all cases, and Ki-67 was ≤ 5% in 12 cases. Conclusions: GA-FG is a newly identified type of gastric cancer with low malignancy and a good prognosis. Characteristic discoloration and surface dilated vessels are often evident endoscopically. Enlarged marginal crypt epithelium and no visible boundary lines are often apparent in magnification endoscopy and narrow band imaging.


Assuntos
Adenocarcinoma , Neoplasias Gástricas , Feminino , Masculino , Humanos , Pessoa de Meia-Idade , Endoscopia , Povo Asiático
9.
Zhonghua Yi Xue Za Zhi ; 103(16): 1225-1229, 2023 Apr 25.
Artigo em Chinês | MEDLINE | ID: mdl-37087406

RESUMO

Objective: To study the diagnostic value of lipoprotein-associated phospholipase A2(LP-PL-A2) in occult pancreaticobiliary reflux(OPBR) combined with gallbladder cholesterol deposition. Methods: This was a case-control study. Forty-six patients with OPBR who underwent gallbladder surgery at Shanghai East Hospital from December 2020 to October 2021, with gallbladder cholesterol deposition as the case group and the remainder as the control group, were included for analysis of their clinical data. Results: There were 21 cases in the case group, with 10 males and 11 females, and aged (57±12) years; 25 cases in the control group, with 11 males and 14 females, and aged (56±10) years. Serum LP-PL-A2 [(551.62±128.69) U/L] was significantly higher in the case group than in the control group [(436.70±135.88) U/L] (t=-2.80,P<0.01).Univariate analysis showed that LP-PL-A2 was a risk factor for OPBR combined with gallbladder cholesterol deposition, OR(95%CI):1.007(1.002-1.012), P=0.011. The area under the receiver operating characteristic curve (ROC) curve was 0.742, P=0.005. Conclusion: LP-PL-A2 is of diagnostic value in OPBR combined with gallbladder cholesterol deposition.


Assuntos
1-Alquil-2-acetilglicerofosfocolina Esterase , Refluxo Biliar , Colesterol , Vesícula Biliar , Feminino , Humanos , Masculino , Biomarcadores , Estudos de Casos e Controles , China , Colesterol/metabolismo , Vesícula Biliar/patologia , Refluxo Biliar/metabolismo
10.
Zhonghua Yi Xue Za Zhi ; 103(16): 1230-1235, 2023 Apr 25.
Artigo em Chinês | MEDLINE | ID: mdl-37087407

RESUMO

Objective: To explore the association between gallbladder adenomyomatosis (GA) and occult pancreaticobiliary reflux (OPBR). Methods: A total of 81 patients with GA who underwent cholecystectomy in Shanghai East Hospital from December 2020 to January 2022 were enrolled, including 48 cases of fundal type, 28 cases of segmental type and 5 cases of diffuse type. Patient's intraoperative bile was coltected and tested for amylase. According to gallbladder bile amylase level, patients were divided into OPBR group (bile amylase>110 U/L) and the control group (bile amylase≤110 U/L). Results: Among 81 patients, 32 were male and 49 were female, and aged (49.1±13.2) years; there were 66 cases in control group, including 27 males and 39 females, and aged (50.0±12.9)years; there were 15 patients in the OPBR group, including 5 males and 10 females, and aged (45.1±14.2) years. In terms of the clinical features of the two groups, there was no significant difference (all P>0.05), except for a significant increase in biliary amylase in the OPBR group compared with the control group (P<0.001). However, the incidence of OPBR was significantly different in the three types of GA, with a lower incidence of OPBR in the fundal type (10.4%, 5/48) than in the segmental type (28.6%, 8/28) and diffuse type (2/5) (P=0.038). In addition, segmental GA was more likely to be combined with gallbladder stones (85.7%, 24/28) than fundal GA (58.3%, 28/48) and diffuse GA (3/5) (P=0.031). Univariate and multivariate logistic regression analyses showed OPBR [OR (95%CI)=3.410 (1.010 to 11.513), P=0.048] and combined gallbladder stones [OR (95%CI)=2.974 (1.011 to 8.745), P=0.048] indepenclently correlated with segmental and diffuse GA. Conclusions: The incidence of OPBR is higher in segmental and diffuse GA, and gallstones and OPBR are independently associated with the occurrence of segmental and diffuse GA. These results suggest that OPBR may be the initiating factor for the occurrence and carcinogenesis of segmental and diffuse GA.


Assuntos
Neoplasias da Vesícula Biliar , Cálculos Biliares , Humanos , Masculino , Feminino , Vesícula Biliar/química , Vesícula Biliar/cirurgia , Neoplasias da Vesícula Biliar/complicações , Neoplasias da Vesícula Biliar/cirurgia , China , Bile , Cálculos Biliares/complicações , Amilases/análise
11.
Zhonghua Nei Ke Za Zhi ; 62(3): 304-309, 2023 Mar 01.
Artigo em Chinês | MEDLINE | ID: mdl-36822857

RESUMO

Objective: To investigate the safety and effectiveness of Neuroform Atlas stent-assisted coiling in the endovascular treatment of intracranial aneurysms. Methods: This was a retrospective, single-center observational study of 77 patients who underwent endovascular treatment of intracranial aneurysms using the Neuroform Atlas device at the Department of Neurology, People's Liberation Army General Hospital from July 2020 to May 2022. There were 34 males and 43 females, with a median (range) age of 59 (23-81) years. The degree and effect of aneurysm embolization were evaluated by modified Raymond grading post procedure and after 6 months. Complications occurring during the perioperative period were recorded. Vaso computed tomography was performed immediately after the operation to assess stent opening and adherence. Digital subtraction angiography was performed 6 months after discharge and the aneurysm was classified as cured, stable, or recurrent. Results: A total of 87 Atlases were successfully released in 77 cases. Angiography performed immediately after the embolization revealed 19 (24.7%) modified Raymond grade Ⅰ, 10 (13.0%) grade Ⅱ, and 48 (62.3%) grade Ⅲa cases. Three perioperative complications were observed including thrombotic events in 2 cases and stent migration in 1 case. A follow-up angiogram was available for 47 aneurysms, and showed that modified Raymond grade Ⅰ occlusion was achieved in 38 (80.9%) cases, grade Ⅱ in 2 (4.3%) cases, and grade Ⅲa in 7 (14.9%) cases. At the 6-month follow-up, 38 patients were cured and 7 were stable, whereas 2 patients experienced a recurrence of aneurysm. Stenosis of the parent artery occurred in 3 (6.4%) cases, including 2 at the head and 1 inside the stent. Conclusions: The results of this preliminary study suggest that Neuroform Atlas stent-assisted coiling has a high occlusion rate and low incidence of complications in the endovascular treatment of aneurysms. However, the effectiveness of this procedure for large aneurysms and long-term outcomes require further investigation.


Assuntos
Embolização Terapêutica , Aneurisma Intracraniano , Masculino , Feminino , Humanos , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Estudos Retrospectivos , Resultado do Tratamento , Stents/efeitos adversos , Embolização Terapêutica/métodos , Angiografia Cerebral/métodos
12.
Zhonghua Liu Xing Bing Xue Za Zhi ; 43(5): 734-738, 2022 May 10.
Artigo em Chinês | MEDLINE | ID: mdl-35589581

RESUMO

Objective: To analyze the etiological and epidemiological characteristics of Vibrio cholerae in Beijing during 2015-2021 and provide evidence for the prevention and control of cholera. Methods: The V. cholerae strains isolated in Beijing during 2015-2021 were analyzed by serotyping and virulence genes detection. Pulsed field gel electrophoresis (PFGE) was performed for the molecular typing of the strains. Based on the collected epidemiological and clinical data of cholera cases,the epidemiological characteristics of cholera were analyzed by descriptive epidemiology method. Results: A total of 76 Vibrio cholerae O1 strains were isolated in Beijing during 2015-2021, including 61 strains from human, 10 strains from environment and 5 strains from seafood. The 76 strains consisted of 68 Ogawa strains and 8 Inaba strains. Six Ogawa strains isolated from sporadic cases carried ctxAB. After NotⅠ digestion, 76 strains were divided into 33 PFGE patterns. From 2015 to 2021, a total of 38 cholera epidemics were reported in Beijing, most of them were sporadic ones, accounting for 92.11% (35/38). A total of 45 cases were reported, and the cases occurred during June-September accounted for 97.78% (44/45). Cholera cases occurred in 9 districts of Beijing, and the cases reported in Chaoyang district accounted for 42.22% (19/45) and in Changping district accounted for 31.11% (14/45). The age of the cholera cases ranged from 19 to 63 years. Except for one case with unknown clinical symptoms, 44 cases had diarrhea symptoms with 84.09% (37/44) of the cases reporting diarrhea (3-9 times/day), followed by yellow watery stool (95.45%, 42/44), abdominal pain (68.18%, 30/44), nausea and vomiting (40.91%, 18/44) and fever (36.36%, 16/44). Conclusion: Vibrio cholerae strains isolated in Beijing during 2015-2021 were mainly O1 serotype Ogawa,most of which were non-toxigenic. The PFGE of the strains varied. Cholera epidemics occurred in 9 districts of Beijing, but most were sporadic ones with incidence peak during June-September.


Assuntos
Cólera , Vibrio cholerae O1 , Adulto , Pequim/epidemiologia , Cólera/tratamento farmacológico , Cólera/epidemiologia , Diarreia/epidemiologia , Eletroforese em Gel de Campo Pulsado , Humanos , Pessoa de Meia-Idade , Vibrio cholerae O1/genética , Adulto Jovem
13.
Zhonghua Jie He He Hu Xi Za Zhi ; 45(3): 269-275, 2022 Mar 12.
Artigo em Chinês | MEDLINE | ID: mdl-35279990

RESUMO

Objective: To improve the diagnostic accuracy of pulmonary artery sarcoma, and to distinguish it from central chronic pulmonary thromboembolism using CT scans. Methods: In this retrospective study, two groups of pulmonary artery sarcoma (PAS group) and central chronic pulmonary thromboembolism (central CPTE group) confirmed by pathology at our hospital between August 2009 and July 2019 were enrolled, clinical features and pre-operative CT pulmonary artery manifestation were collected, and the key points of differential diagnosis were summarized. Results: The study was composed of 13 cases in the PAS group including 10 males (76.9%), with an average age of (45.4±15.5) years. There were 19 patients in the central CPTE group including 14 males (73.7%), with an average age of (38.6±14.1) years. There were no significant differences in gender and age between the two groups. Deep venous thrombosis in the lower extremities was significantly higher in the central CPTE group than in the PAS group (7/19 vs. 0/13, P=0.025), and the N-terminal pro-brain natriuretic peptide value was higher in the central CPTE group than in the PAS group [674.50(261.70-1 977.70) vs. 66.00(28.10-505.50),P=0.001]. In CT pulmonary angiography, the involvement of the main pulmonary artery, and the proximal lesion showing an acute angle to the pulmonary artery wall were more common in the PAS group [11(84.6%) vs. 5(26.3%), P=0.003; 11(84.6%) vs. 2(10.5%), P<0.001, respectively]. The swelling index of the main pulmonary and the left/right main pulmonary arteries in the PAS group were significantly higher, as well as the dilatation in the lobar and segmental pulmonary arteries [1.19±0.17 vs. 0.99±0.19,P=0.006, 10(76.9%) vs. 2(10.5%), P<0.001, respectively]. The right ventricular transverse diameter/left ventricular transverse diameter (RVd/LVd) and pulmonary artery diameter/ascending aortic diameter ratio (Pad/Aod) were significantly lower in PAS group than those in the central CPTE group (0.97±0.19 vs. 1.23±0.35,P=0.020; 0.98±0.25 vs. 1.15±0.20,P=0.039). Conclusions: In CT pulmonary angiography, filling defects involving the main pulmonary artery and showing expansive growth were highly suggestive of pulmonary artery sarcoma. The history of deep venous thrombosis of the lower extremities was helpful for the diagnosis of chronic pulmonary embolism.


Assuntos
Embolia Pulmonar , Sarcoma , Adulto , Diagnóstico Diferencial , Humanos , Masculino , Pessoa de Meia-Idade , Artéria Pulmonar/diagnóstico por imagem , Artéria Pulmonar/patologia , Embolia Pulmonar/diagnóstico , Estudos Retrospectivos , Sarcoma/diagnóstico por imagem , Sarcoma/patologia , Tomografia Computadorizada por Raios X , Adulto Jovem
14.
Zhonghua Yi Xue Za Zhi ; 102(12): 853-857, 2022 Mar 29.
Artigo em Chinês | MEDLINE | ID: mdl-35330578

RESUMO

Objective: To investigate the role of operative link on gastritis assessment (OLGA) staging system in risk assessment of gastric precancerous states and precancerous lesions. Methods: A total of 682 patients undergoing gastroscopy from January to July 2016 at the First Hospital of Jiaxing were enrolled. According to the results of gastroscopy and pathology, patients were divided into five groups by OLGA staging system, respectively. The differences of atrophic progression/reversion rate, detection rates of intraepithelial neoplasia and gastric cancer among different OLGA groups during 5-year follow-up were compared. Results: A total of 437 patients completed endoscopic follow-up, including 207 cases in Stage-0, 158 cases in Stage-Ⅰ, 47 cases in Stage-Ⅱ, 18 cases in Stage-Ⅲ and 7 cases in Stage-Ⅳ. There were 24 cases of atrophy progression, 78 cases of atrophy reversion, 5 cases of intraepithelial neoplasia and 2 cases of gastric cancer. The atrophy progression rate correlated with the rising OLGA stages(χ2=19.14, P<0.001);The rate of atrophy reversion in high-risk group was significantly lower than that in low-risk group(χ2=4.96, P=0.026); The detection rate of intraepithelial neoplasia and gastric cancer in high-risk group was significantly higher than that in low-risk group(χ2=29.63, 11.60, both P<0.05). Conclusions: Histological OLGA staging system is helpful to realize the risk stratification assessment of gastric precancerous states and precancerous lesions. It has practical significance to formulate individualized endoscopic/histological follow-up plan for OLGA high-risk group.


Assuntos
Gastrite Atrófica , Gastrite , Lesões Pré-Cancerosas , Neoplasias Gástricas , Gastrite/diagnóstico , Gastrite/patologia , Gastrite Atrófica/diagnóstico , Gastrite Atrófica/patologia , Humanos , Lesões Pré-Cancerosas/patologia , Medição de Risco , Neoplasias Gástricas/patologia
15.
Zhonghua Nei Ke Za Zhi ; 61(2): 172-176, 2022 Feb 01.
Artigo em Chinês | MEDLINE | ID: mdl-35090252

RESUMO

Objective: To explore the clinical phenotype and genotype of a family with hereditary hypofibrinogenemia. Methods: Activated partial thrombin time (APTT), prothrombin time (PT),thrombin time (TT) and thrombelastogram (TEG) were tested in all family members. Fibrinogen activity and antigen were detected by Clauss method and immunoturbidimetric method respectively. All exons and flanking sequences of fibrinogen FGA,FGB,FGG genes were analyzed by PCR, and the products were subjected to Sanger sequencing. Results: The proband represented prolonged PT and TT, low Fg activity and antigen, elevated K value and decreased Angle value in TEG. Other family members reported similar changes including proband's father,daughter and son, and his elder brother and his niece. Exon 5 c.510_512 of FGG gene in the proband revealed a minor deletion mutation. Conclusion: The novel heterozygous missense mutation of exon 5 c.510_512del (Gln170_Ile171 del ins His) of FGG gene is the molecular mechanism that leads to hereditary hypofibrinogenemia in this family.


Assuntos
Afibrinogenemia , Afibrinogenemia/genética , Idoso , Fibrinogênio/genética , Heterozigoto , Humanos , Masculino , Mutação , Linhagem
16.
Zhonghua Liu Xing Bing Xue Za Zhi ; 42(7): 1252-1259, 2021 Jul 10.
Artigo em Chinês | MEDLINE | ID: mdl-34814540

RESUMO

Objective: To investigate the epidemiological, drug resistance and molecular characteristics of Salmonella (S.) Kentucky strains isolated from diarrheal patients in Beijing. Methods: The drug susceptibility of 22 S. Kentucky strains isolated in Beijing during 2010-2020 was tested by using the micro broth dilution method. The multilocus sequence typing (MLST), drug resistance genes and Salmonella genomic island (SGI) identifications of the strains were performed by whole-genome sequencing (WGS).The pulsed field gel electrophoresis (PFGE) was performed to analyze the molecular epidemiological characteristics of the isolates. Results: The 22 strains were highly resistant to 8-22 kinds of antibiotics, especially to ciprofloxacin, cephalosporins and azithromycin, etc., showing a super high level of multidrug resistance and 21 strains were positive for extended-spetrum beta-lactamase (ESBL). The WGS analysis revealed that all the isolates belonged to ST198, carrying SGI1-K. The drug resistance genes tetA, sul1 and qacE were identified in all strains and Quinolone resistance-determining regions (QRDRs) showed 2 mutations in gyrA (S83F, D87 N) and 3 mutations in the parC gene (T57S, S80I, T255S). The resistance genes associated with ß-lactam antibiotics (blaCTX-M-55, blaCTX-M-14b, blaTEM-141, blaTEM-206, blaTEM-209, blaTEM-214, blaTEM-1B), resistance genes associated with aminoglycosides [aac(3)-Id, aac(3)-IId, aac(6')-Iaa, aadA7, aadA17, aph(3')-Ia, aph(3'')-Ib, aph(6)-Id,rmtB] as well as floR, dfrA14, mphA and qnrS1 had significant differences in the strains of different years, which were highly consistent with the drug-resistant phenotype. Furthermore, phylogenetic analysis showed that the similarity of the 22 strains was more than 85%, and the strains were highly homologous to CIP-resistant ST198-X1 circulating in the world. In the process of spread, the drug resistance and PFGE spectrums had changed, two clusters had formed. Conclusions: The S. Kentucky strains isolated in Beijing shared high homology with the multidrug-resistant strain ST198-X1-SGI-1K isolated in the world, which has maintained a low level of spread since 2016, causing sporadic infections and clusters of diarrhea, and has serious resistances to fluoroquinolones, ESBLs and azithromycin. The surveillance for multidrug-resistant S. Kentucky should be strengthened.


Assuntos
Farmacorresistência Bacteriana Múltipla , Infecções por Salmonella/epidemiologia , Salmonella , Antibacterianos/farmacologia , Pequim/epidemiologia , Diarreia/epidemiologia , Diarreia/microbiologia , Farmacorresistência Bacteriana Múltipla/genética , Humanos , Testes de Sensibilidade Microbiana , Tipagem de Sequências Multilocus , Filogenia , Salmonella/classificação , Salmonella/efeitos dos fármacos , beta-Lactamases/genética
18.
Zhonghua Bing Li Xue Za Zhi ; 50(9): 1014-1019, 2021 Sep 08.
Artigo em Chinês | MEDLINE | ID: mdl-34496491

RESUMO

Objectives: To investigate the clinicopathological and prognostic significance of International Endocervical Adenocarcinoma Criteria and Classification (IECC) in classifying endocervical adenocarcinomas among Chinese women. Methods: A total of 286 endocervical adenocarcinomas diagnosed from January 2013 to December 2019 at the Women's Hospital, Zhejiang University School of Medicine were identified and included. The cases were reviewed and reclassified based on IECC. The histological types were correlated with p16 immunostaining, human papilloma virus (HPV) mRNA status, the clinicopathological parameters including the International Federation of Gynecologic Oncology (FIGO) stage, and clinical follow-up data. Results: The patients aged from 19 to 77 (median 47) years. There were 223 patients at FIGO stage Ⅰ, 22 at stage Ⅱ, 38 at stage Ⅲ and 3 at stage Ⅳ. The IECC types included 213 (74.5%) HPV-related adenocarcinomas (HPVA), 60 (21%) non-HPV-related adenocarcinomas (NHPVA), and 13 (4.5%) adenocarcinomas, no other specified (NOS). The major histological subtypes in HPVA and NHPVA were common type (n=156, 54.5%) and gastric type (GAC, n=46, 15.9%), respectively. The p16 positive rates in HPVA, NHPVA and adenocarcinoma, NOS were 92% (173/188), 26.6% (17/64) and 61.5% (8/13), respectively, and those of HPV mRNA hybridization in situ were 89.4% (144/161), 0/18 and 7/13, respectively. Compared to HPVA, NHPVA was more frequently associated with older age, FIGO stage Ⅱ-Ⅳ, neural involvement, lymphovascular invasion and aberrant p53 expression (P<0.05). Univariate survival analysis showed that age (>47 years), NHPVA, GAC, FIGO stage Ⅱ-Ⅳ, neural involvement, lymphovascular invasion and aberrant p53 expression were indicators for a poorer overall survival and tumor recurrence (P<0.05). Mucinous HPVA showed worse clinical outcomes compared to usual-type HPVA (P<0.01). Multivariate survival analysis demonstrated that FIGO stage Ⅱ-Ⅳ, NHPVA and aberrant p53 expression were independent indicators for poor overall survival while FIGO stage Ⅱ-Ⅳ and GAC were independently associated with tumor recurrence (P<0.05). Conclusions: The two broad IECC categories, HPVA and NHPVA, not only provide morphological links to the etiology (HPV infection), but also have significant clinicopathological and prognostic relevance.


Assuntos
Adenocarcinoma , Infecções por Papillomavirus , Neoplasias do Colo do Útero , Idoso , Feminino , Humanos , Pessoa de Meia-Idade , Infecções por Papillomavirus/diagnóstico , Prognóstico
19.
Zhonghua Zhong Liu Za Zhi ; 43(8): 843-849, 2021 Aug 23.
Artigo em Chinês | MEDLINE | ID: mdl-34407589

RESUMO

Objective: To evaluate the value of next generation sequencing (NGS) in the genetic testing of Lynch syndrome. Methods: Immunohistochemical method was used to detect the expressions of DNA mismatch repair (MMR) proteins, including MutL homolog 1 (MLH1), PMS1 homolog 2 (PMS2), MutS homolog 2 (MSH2) and MutS homolog 6 (MSH6) in colorectal cancer, gastric cancer and endometrial cancer tissues collected from Shandong Provincial Hospital between 2016 and 2018. The genomic DNA of 45 patients who were suspected with Lynch syndrome was extracted from non-cancerous tissue paraffin samples, which were postoperatively confirmed by microscope. The mutations of 12 genes including MLH1 and MSH2 were detected using NGS. The germline mutant sites and significance were analyzed by bioinformatics technology and further confirmed by using Sanger sequencing. Results: The immunohistochemical results showed that the 45 cases of suspected Lynch syndrome included 22 cases of MLH1 and PMS2 deficient expression, 16 cases of MLH2 and MSH6 deficient expression, and 7 cases of MMR proteins normal expression. The NGS result showed that 28 cases of adjacent sample from colon cancer patients included 4 cases of MLH1 pathogenic mutation, 1 case of suspected MLH1 mutation, 2 cases of MLH2 pathogenic mutation, 2 cases of suspected MLH2 mutation. No MMR gene mutation was found in adjacent samples of 6 cases of rectal cancer, 6 cases of gastric cancer and 7 cases of colorectal cancer with MMR normal expression. One case of MLH1 or MHL2 pathogenic mutation and one case of MLH1 suspected mutation was detected in adjacent samples of 5 cases of endometrial cancer. Moreover, NGS also detected many other genes mutations and unreported gene mutation sites. Pathogenic and suspected MLH1 and MSH2 mutations were verified by Sanger sequencing. Conclusions: High-throughput NGS is a quick, accurate and reliable technique to identify gene variants in suspected Lynch syndrome patients. It has a wide application prospect for gene testing of tumors associated with Lynch syndrome.


Assuntos
Neoplasias Colorretais Hereditárias sem Polipose , Neoplasias Colorretais Hereditárias sem Polipose/diagnóstico , Neoplasias Colorretais Hereditárias sem Polipose/genética , Reparo de Erro de Pareamento de DNA/genética , Feminino , Testes Genéticos , Mutação em Linhagem Germinativa , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Instabilidade de Microssatélites , Endonuclease PMS2 de Reparo de Erro de Pareamento/genética , Proteína 1 Homóloga a MutL/genética , Proteína 2 Homóloga a MutS/genética , Proteína 2 Homóloga a MutS/metabolismo
20.
Zhonghua Fu Chan Ke Za Zhi ; 56(8): 537-544, 2021 Aug 25.
Artigo em Chinês | MEDLINE | ID: mdl-34420285

RESUMO

Objective: To investigate the safety, efficacy and application indication of intra-operative cell salvage (IOCS) in cesarean section. Methods: A total of 1 265 pregnant women who received IOCS blood transfusion during cesarean section in 11 tertiary A hospitals from August 2016 to January 2019 were collected and divided into <1 500 ml group (796 cases) and ≥1 500 ml group (469 cases) according to the amount of blood loss during cesarean section. The general clinical data, ultrasonic imaging data, perinatal and puerperium indicators were analyzed retrospectively. The risk factors of intraoperative blood loss ≥1 500 mL using IOCS transfusion were analyzed by logistic multivariate regression. Results: (1) A total of 848 001 ml of blood was recovered and a total of 418 649 ml of blood was transfused in 1 265 pregnant women who received IOCS transfusions, which was equivalent to 23 258 U red blood cell suspension, greatly saving medical resources. The intraoperative blood loss in <1 500 ml group and ≥1 500 ml group was 800 ml (300-1 453 ml) and 2 335 ml (1 500-20 000 ml), respectively. No amniotic fluid embolism, severe adverse reactions, shock and death occurred in the two groups. (3) Multivariate regression analysis showed that age ≥35 years (OR=1.5, 95%CI: 1.1-1.9), prenatal hemoglobin level <110 g/L (OR=1.7, 95%CI: 1.3-2.2), history of uterine surgery (OR=1.8, 95%CI: 1.3-2.6), placenta previa (OR=1.9, 95%CI: 1.1-3.1), placenta accreta (OR=2.6, 95%CI: 1.8-3.9), blood pool in the placenta (OR=1.6, 95%CI: 1.1-2.3), abnormal posterior placenta muscle wall (OR=1.8, 95%CI: 1.2-2.6), placenta projecting to the anterior uterine wall (OR=3.0, 95%CI: 1.3-7.0) were risk factors for blood loss ≥1 500 ml in obstetric transfusion using IOCS technique, with statistical significance (all P<0.05). Conclusion: IOCS is safe and effective in cesarean section, which could save the medical resources and reduces medical expenses, however, it is necessary to strictly master the application indication.


Assuntos
Placenta Acreta , Placenta Prévia , Adulto , Perda Sanguínea Cirúrgica , Cesárea , Feminino , Humanos , Gravidez , Estudos Retrospectivos
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