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1.
Zhonghua Wai Ke Za Zhi ; 59(10): 848-853, 2021 Oct 01.
Artigo em Chinês | MEDLINE | ID: mdl-34619911

RESUMO

Objective: To investigate the clinical characteristics of adult undifferentiated embryonal sarcoma of the liver (UESL). Methods: A retrospective analysis was performed on the clinical data of 5 patients with UESL who underwent surgical resection and were pathologically confirmed from January 2005 to December 2020 at the First and the Second Affiliated Hospital of Anhui Medical University. All the patients were female aged from 49 to 77 years old. Preoperative CT showed a solid cystic mass with low density and a slight density of cord like septum. Imaging findings were misdiagnosed as hepatocellular carcinoma or cystadenocarcinoma. CA125 was higher in 3 patients,and AFP in all patients was normal. Results: All patients were treated by surgery. The mean diameter of tumor was 20.2 cm (range:15.0 to 30.0 cm). All five patients had vimentin expression in immunohistochemistry. Three cases underwent complete resection of the tumor and achieved R0 resection,2 of them had tumor free survival until the end of the follow-up (89 and 55 months),the other 1 case died from renal cell carcinoma 158 months later. The remaining 2 cases were radically resected,but the tumors were ruptured during operation,and relapsed after 2 months and 19 months respectively. The overall survival was 3 and 26 months respectively. Conclusions: Radical hepatectomy is the first choice for treatment of UESL. Intraoperative tumor rupture should be avoided and implant metastasis is a major factor affecting the prognosis of UESL.


Assuntos
Neoplasias Renais , Neoplasias Embrionárias de Células Germinativas , Sarcoma , Idoso , Feminino , Humanos , Fígado , Pessoa de Meia-Idade , Neoplasias Embrionárias de Células Germinativas/diagnóstico , Neoplasias Embrionárias de Células Germinativas/cirurgia , Estudos Retrospectivos , Sarcoma/diagnóstico , Sarcoma/cirurgia
2.
Am J Bot ; 2021 Oct 08.
Artigo em Inglês | MEDLINE | ID: mdl-34622948

RESUMO

PREMISE: Many animals provide ecosystem services in the form of pollination, including honeybees which have become globally dominant floral visitors. A rich literature documents considerable variation in single visit pollination effectiveness, but this literature has yet to be extensively synthesized to address whether honeybees are effective pollinators. METHODS: We conducted a hierarchical meta-analysis of 168 studies and extracted 1564 single visit effectiveness (SVE) measures for 240 plant species. We paired SVE data with visitation frequency data for 69 of these studies. We used these data to ask: 1) Do honeybees (Apis mellifera) and other floral visitors differ in their SVE?; 2) To what extent do plant and pollinator attributes predict differences in SVE between honeybees and other visitors?; and 3) Is there a correlation between visitation frequency and SVE? KEY RESULTS: Honeybees were significantly less effective than the most effective non-honeybee pollinators but as effective as the average pollinator. The type of pollinator moderated these effects. Honeybees were less effective compared to the most effective and average bird and bee pollinators but were as effective as other taxa. Visitation frequency and SVE were positively correlated, but this trend was largely driven by data from communities where honeybees were absent. CONCLUSIONS: Although high visitation frequencies make honeybees important pollinators, they were less effective than the average bee and rarely the most effective pollinator of the plants they visit. As such, honeybees may be imperfect substitutes for the loss of wild pollinators and safeguarding pollination will benefit from conservation of non-honeybee taxa. This article is protected by copyright. All rights reserved.

3.
Zhonghua Kou Qiang Yi Xue Za Zhi ; 56(1): 80-85, 2021 Jan 09.
Artigo em Chinês | MEDLINE | ID: mdl-34645240

RESUMO

Objective: To investigate the effects of different surface treatments protocol on the bonding strength between lithium disilicate glass ceramic and resin cements. Methods: Ceramic specimens of 15 mm×13 mm×3 mm were used to evaluate the effects of different surface treatments of hydrofluoric acid etching and silane coupling in current research. Firstly, the standard lithium ceramic specimens were divided into 8 groups (n=16), and were etched by 4.5% hydrofluoric acid for 0, 10, 20, 30, 40, 60, 120 and180 s. Then specimens in each group was further divided into two sub-groups. In one sub-group specimens were coated with coupling agents and in the other were not. Shear bonding strength (SBS) and failure mode were tested and analyzed. The surface morphologies of hydrofluoric acid-etched ceramic specimens were observed by the scanning electron microscopy (SEM). Secondly, after being etched by 4.5% hydrofluoric acid for 30 s, the lithium ceramic specimens were coated with coupling agents at different temperatures: room temperature (12 ℃) for 60 s, 60 ℃ hot air for 60 s and 100 ℃ hot air for 60 s (n=8). SBS and fracture mode were tested and analyzed. The infrared spectrum analysis was used to characterize the coupled surfaces of the ceramic samples. Results: The maximum SBS values were obtained after the specimens were etched for 30 s. The silane coupled group showed a higher SBS value [(25.91±4.30) MPa, P<0.05] than the no-silane-coupled group [(20.27±4.92) MPa]. SBS decreased with extended etching time (>30 s) and the SEM photos showed over-etching morphologies. The 60 ℃ hot air treatment resulted in the maximum SBS value [(28.70±5.32) MPa] than that of the room temperature [(20.08±3.64) MPa] or 100 ℃ hot air [(25.64±4.86) MPa, P<0.05]. And the cohesive failure mode was found in 60 ℃ hot air treatment group. The infrared spectroscopy analysis showed the highest amount of silicon oxide bond in the 60 ℃ hot air treatment group. Conclusions: In this study, for this product, the optimum etching time of 4.5% hydrofluoric acid was 30 s. Furthermore, an ideal SBS value could be obtained when the silane coupling agents were applied additionally. SBS could be increased substantially when the 30 s-etched-ceramic product was coated with silane coupling agents at 60 ℃ hot air for 60 s.

4.
Zhonghua Yi Xue Za Zhi ; 101(5): 327-332, 2021 Feb 02.
Artigo em Chinês | MEDLINE | ID: mdl-34645250

RESUMO

Objective: To investigate the expression of peroxisome proliferator-activated receptor-gamma coactivator (PGC)1ß in synovium of patients with rheumatoid arthritis (RA) and its association with histological synovitis. Methods: This cross-sectional study recruited RA patients at the Department of Rheumatology, Sun Yat-Sen Memorial Hospital from May 2010 to October 2016. Clinical data were collected. Conventional radiographs of bilateral hands and wrists were performed and assessed according to Sharp/van der Heijde-modified Sharp score(mTSS). Synovial tissues from knee joints of all RA patients were obtained by biopsies, and then stained with HE and immunohistochemically for PGC-1ß, CD3, CD20, CD38, CD68, CD15 and CD34 to evaluate synovitis, synovial PGC-1ß expression and the densities of inflammatory cells and endothelial cells. The relationship between synovial PGC-1ß expression and histological synovitis, disease activity and joint destruction in RA was analyzed by Spearman's rank correlation and multivariate linear regression. Results: There were 83 RA patients recruited with 20 (24.1%) males and 63 (75.9%) females, aged (54±14) years. PGC-1ß expressed in the nuclei of lining synoviocytes, sublining inflammatory cells and vascular endothelial cells of RA synovium. The percentage of synovial PGC-1ß+cells was positively correlated with histological synovitis score (r=0.333) and the densities of sublining CD3+ T cells (r=0.259), CD20+ B cells (r=0.320), CD38+plasma cells (r=0.342) and CD68+ macrophages (r=0.309)(all P<0.05). It was also positively correlated with erythrocyte sedimentation rate, C reactive protein and total mTSS (r=0.219-0.301, all P<0.05). Multiple linear regression analysis further confirmed the positive correlation between the percentage of synovial PGC-1ß+cells and mTSS (ß=0.312, P=0.004). Conclusion: Synovial PGC-1ß is positively associated with local and systemic inflammation as well as joint destruction, which implies that PGC-1ß might involve in the pathogenesis of synovitis and joint destruction in RA.

5.
Nan Fang Yi Ke Da Xue Xue Bao ; 41(9): 1350-1357, 2021 Aug 31.
Artigo em Chinês | MEDLINE | ID: mdl-34658349

RESUMO

OBJECTIVE: To determine the risk factors of occurrence and treatment failure of peritoneal dialysis associatedperitonitis (PDAP) due to polymicrobial infections. METHODS: We retrospectively collected the clinical data of patients with PDAP from the peritoneal dialysis (PD) centers in 4 general hospitals in Jilin Province from 2013 to 2019. The patients were divided, according to the results of peritoneal dialysate culture, into polymicrobial PDAP group and control group for comparison of the clinical data, treatment outcomes, and long-term prognosis. The independent risk factors of the occurrence and treatment failure of polymicrobial PDAP were explored using multivariate regression analysis. RESULTS: We recruited a total of 625 patients from the 4 PD centers, among whom 1085 episodes of PDAP were recorded. Polymicrobial PDAP accounted for 7.6% of the total PDAP episodes, and this proportion increased from 5.3% in 2013-2016 to 9.4% in 2017-2019 (P= 0.012). Compared with the control group, polymicrobial PDAP group had higher proportions of elderly patients and patients with refractory PDAP, with greater white blood cell counts in the first-day dialysate and longer course of antibiotic treatment (P < 0.05). The risk of catheter removal and treatment failure (catheter removal or PDAP-related death) in polymicrobial PDAP group was 2.972 times (OR=2.972, 95% CI: 1.634-5.407, P < 0.001) and 2.692 times (OR=2.692, 95% CI: 1.578-4.591, P < 0.001) that in the control group, respectively. The risk of withdrawal from PD (technical failure + all-cause death) was 1.5- fold higher in polymicrobial PDAP group than that in the control group (OR=1.500, 95% CI: 1.085-2.074, P=0.014). Elderly patients (>65 years) had a 1.937-fold higher risk of experiencing polymicrobial PDAP than younger patients (OR=1.937, 95% CI: 1.207-3.109, P= 0.006). Diabetes mellitus (OR=5.554, 95% CI: 1.021-30.201, P=0.047), mixed fungal infeciton (OR=343.687, 95% CI: 21.554- 5480.144, P < 0.001), and Pseudomonas aeruginosa infection (OR=11.518, 95% CI: 1.632 to 81.310, P=0.014) were associated with increased risks of treatment failure by 4.554, 342.687 and 10.518 times, respectively. CONCLUSION: The proportion of polymicrobial PDAP in the total PDAP cases tends to increase in recent years. Polymicrobial infection is an independent risk factor of both treatment failure and poor prognosis in patients with PDAP. An old age is an independent risk factor for polymicrobial PDAP, while diabetes mellitus and infections with mixed fungi or Pseudomonas aeruginosa are independent risk factors for treatment failure.


Assuntos
Falência Renal Crônica , Diálise Peritoneal , Peritonite , Idoso , Humanos , Falência Renal Crônica/terapia , Diálise Peritoneal/efeitos adversos , Peritonite/tratamento farmacológico , Peritonite/epidemiologia , Peritonite/etiologia , Estudos Retrospectivos , Fatores de Risco , Falha de Tratamento
6.
Nan Fang Yi Ke Da Xue Xue Bao ; 41(9): 1358-1365, 2021 Aug 31.
Artigo em Chinês | MEDLINE | ID: mdl-34658350

RESUMO

OBJECTIVE: To explore the preoperative radiomics features (RFs) and construct a nomogram for predicting postoperative recurrence of stage Ⅰ-Ⅲ clear cell renal carcinoma (ccRCC). METHODS: The clinicopathological data and preoperative enhanced CT images collected from 256 patients with ccRCC were used as the training dataset (175 patients) and test dataset (81 patients). The enhanced CT images of the tumor were segmented using ITK-SNAP software, and the RFs were extracted using the PyRadiomics computing platform. In the training dataset, the RFs were screened based on Lasso-CV algorithm, and the Rad_score was calculated. The Clinic factors were screened by univariate and multivariate logistic regression analysis of the clinical and pathological factors and CT characteristics. The Rad_score, Clinic、Rad_score + Clinic nomograms were constructed and verified using the test dataset. The performance, discrimination power and calibration of the nomograms were compared, and their clinical value was evaluated using decision curve analysis. RESULTS: Six RFs were retained to calculate the Rad_score. The Clinic factors included Rad_score, KPS score, platelet, calcification and TNM clinical stage. In terms of discrimination, the Rad_score + Clinic nomogram showed better performance (AUC=0.84 for training set; AUC=0.85 for test set) than the Rad_score nomogram (AUC=0.78 for training set, P=0.029; AUC=0.77 for Test set, P=0.025) and Clinic nomogram (AUC=0.77 for training set, P=0.014; AUC=0.77 for test set, P=0.011). In terms of calibration, the P value for goodness of fit test of the Rad_score+Clinic nomogram was 0.065 for the training set and 0.628 for the test set. Decision curve analysis showed a greater clinical value of the Rad_score+Clinic nomogram with Rad_score than the Clinic nomogram without Rad_score. CONCLUSION: The nomogram based on preoperative CT RFs has a high value for predicting postoperative recurrence of stage Ⅰ-Ⅲ ccRCC to facilitate individualized treatment of RCC.


Assuntos
Carcinoma de Células Renais , Neoplasias Renais , Carcinoma de Células Renais/diagnóstico por imagem , Carcinoma de Células Renais/cirurgia , Humanos , Neoplasias Renais/diagnóstico por imagem , Neoplasias Renais/cirurgia , Nomogramas , Estudos Retrospectivos , Tomografia Computadorizada por Raios X
7.
Artigo em Chinês | MEDLINE | ID: mdl-34488271

RESUMO

Objective: To develop a method for simultaneous determination of Dydroquinone, Resorcinol, Pyrocatechol, 4-Nitrophenol and 2, 4-Dinitrophenol in workplace air by high performance liquid chromatography. Methods: Air samples were collected by composite tube (front end glass fiber filter membrane, back section silica gel) , 10% methanol was desorbed, separated by C18 chromatographic column, detected by photo-diode array (PDA) detector, and quantitatively determined by external standard method at the wave-length of 230 nm. Results: The linear relationship of 5 phenolic compounds was good (r>0.999) . The detection limit of glass fiber filtration membrane and silica gel adsorbent were 0.13-0.41 g/ml and 0.16-1.04 g/ml respectively. The quantitative limit of glass fiber filtration membrane was 0.44-1.36 g/ml, and the silica gel adsorbent was 0.52-3.46 g/ml. The average desorption efficiency of glass fiber membrane and silica gel adsorbent were 97.5%-100.1% and 86.9%-100.3%, respectively. In and between batches, the precision glass fiber filtration membrane was 0.71%-4.88%, 0.91%-4.82%, silica gel adsorbent was 0.47%-4.62%, 0.76%-5.52%. Samples can be stored for at least 30 days at -20 ℃. The possible co-existing interferences of aniline, phenol, p-nitrochlorobenzene, o-nitrophenol and trinitrophenyl did not interfere with the determination. Conclusion: The sensitivity, precision, accuracy and linear range of this method all meet the requirements of the specification. The collection and preservation of samples can also meet the requirements of the limits. It is suitable for the simultaneous determination of hydroquinone, resorcinol, hydroquinone, hydroquinone, hydroquinone, p-nitrophenol and 2, 4-dinitrophenol in the air of the workplace.


Assuntos
Poluentes Ocupacionais do Ar , Local de Trabalho , Poluentes Ocupacionais do Ar/análise , Cromatografia Líquida de Alta Pressão , Fenóis
8.
Artigo em Chinês | MEDLINE | ID: mdl-34488274

RESUMO

Objective: To select and optimize the conditions of urine cobalt determination by graphite furnace atomic absorption spectroscopy and establish a method for urine cobalt determination. Methods: In April 2020, the matrix modifier and spectrum wavelength were selected by mathematical statistics method, the heating procedure of graphite furnace was optimized, the variance of orthogonal test results was analyzed, and the working curve was quantified by external standard method. Results: The results showed that the diammonium hydrogen phosphate was a matrix modifier with a wavelength of 240.7 nm, and the optimized graphite furnace heating procedure showed a good linear relationship at 5-80 µg/L. The correlation coefficient was 0.9991. The detection limit was 0.9 µg/L, the lowest detection concentration was 1.8 µg/L. The recovery was 94.0%-101.4%, and the precision was 2.6%-5.8%. Conclusion: The orthogonal design method can efficiently and scientifically optimize the optimal combination of the various factor levels of graphite furnace atomic absorption spectrometry. The determination method established based on this has high precision and good accuracy, and can be applied to the determination of cobalt in urine.


Assuntos
Grafite , Cobalto , Espectrofotometria Atômica
9.
Zhonghua Nei Ke Za Zhi ; 60(10): 875-879, 2021 Oct 01.
Artigo em Chinês | MEDLINE | ID: mdl-34551475

RESUMO

Objective: To investigate the pathogen distribution and antimicrobial resistance among lower respiratory tract infections in patients with hematological malignancies. Methods: Sputum samples were collected from 967 patients with hematological malignancies and lower respiratory tract infections in Department of Hematology,the Second Hospital of Shanxi Medical University from January 2017 to July 2020. The pathogens and drug sensitivity reports were carried out by automatic bacterial identification instruments. WHONET 5.6 and SPSS 20.0 softwares were used for statistical analysis. Results: A total of 961 strains of pathogens were isolated, 516 (53.7%) pathogens were Gram-negative bacteria, mainly 118 strains of Klebsiella pneumonia (12.3%), 68 strains of Pseudomonas aeruginosa (7.1%), 67 strains of Acinetobacter baumannii (7.0%),52 strains of Stenotrophomonas maltophilia (5.4%), 43 strains of Escherichia coli (4.5%), and 42 strains of Enterbacter cloacae (4.4%). There were 171 (17.8%) strains of Gram-positive bacteria and 274 (28.5%) fungi. The drug resistance rates of Pseudomonas aeruginosa and Acinetobacter baumannii to carbapenem were 22.1%-31.3%. Stenotrophomonas maltophilia was sensitive to levofloxacin, compound sulfamethoxazole and minocycline. The antimicrobial resistance rates of these three enterobacteria to carbapenems, cefoperazone/sulbactam, piperacillin/tazobactam were low (<10%). The resistant Gram-positive bacteria to ticoplanin, vancomycin and linazolamide were not detected. Conclusion: The major pathogens related to lower respiratory tract infections in patients with hematological malignancies are gram-negative bacteria in our centre. Different pathogens appear different characteristics of antimicrobial resistance.


Assuntos
Infecção Hospitalar , Neoplasias Hematológicas , Infecções Respiratórias , Antibacterianos/farmacologia , Antibacterianos/uso terapêutico , Infecção Hospitalar/tratamento farmacológico , Farmacorresistência Bacteriana , Bactérias Gram-Negativas , Neoplasias Hematológicas/complicações , Humanos , Testes de Sensibilidade Microbiana , Infecções Respiratórias/tratamento farmacológico , Infecções Respiratórias/epidemiologia
10.
Zhonghua Wei Chang Wai Ke Za Zhi ; 24(9): 796-803, 2021 Sep 25.
Artigo em Chinês | MEDLINE | ID: mdl-34530561

RESUMO

Objective: Contrast-enhanced CT is an important method of preoperative diagnosis and evaluation for the malignant potential of gastric submucosal tumor (SMT). It has a high diagnostic accuracy rate in differentiating gastric gastrointestinal stromal tumor (GIST) with a diameter greater than 5 cm from gastric benign SMT. This study aimed to use deep learning algorithms to establish a diagnosis model (GISTNet) based on contrast-enhanced CT and evaluate its diagnostic value in distinguishing gastric GIST with a diameter ≤ 5 cm and other gastric SMT before surgery. Methods: A diagnostic test study was carried out. Clinicopathological data of 181 patients undergoing resection with postoperative pathological diagnosis of gastric SMT with a diameter ≤ 5 cm at Department of Gastrointestinal Surgery of Renji Hospital from September 2016 to April 2021 were retrospectively collected. After excluding 13 patients without preoperative CT or with poor CT imaging quality, a total of 168 patients were enrolled in this study, of whom, 107 were GIST while 61 were benign SMT (non-GIST), including 27 leiomyomas, 24 schwannomas, 6 heterotopic pancreas and 4 lipomas. Inclusion criteria were as follows: (1) gastric SMT was diagnosed by contrast-enhanced CT before surgery; (2) preoperative gastroscopic examination and biopsy showed no abnormal cells; (3) complete clinical and pathological data. Exclusion criteria were as follows: (1) patients received anti-tumor therapy before surgery; (2) without preoperative CT or with poor CT imaging quality due to any reason; (3) except GIST, other gastric malignant tumors were pathologically diagnosed after surgery. Based on the hold-out method, 148 patients were randomly selected as the training set and 20 patients as the test set of the GISTNet diagnosis model. After the GISTNet model was established, 5 indicators were used for evaluation in the test set, including sensitivity, specificity, positive predictive value, negative predictive value and the area under the receiver operating curve (AUC). Then GISTNet diagnosis model was compared with the GIST-risk scoring model based on traditional CT features. Besides, in order to compare the accuracy of the GISTNet diagnosis model and the imaging doctors in the diagnosis of gastric SMT imaging, 3 radiologists with 3, 9 and 19 years of work experience, respectively, blinded to clinical and pathological information, tested and judged the samples. The accuracy rate between the three doctors and the GISTNet model was compared. Results: The GISTNet model yielded an AUC of 0.900 (95% CI: 0.827-0.973) in the test set. When the threshold value was 0.345, the sensitivity specificity, positive and negative predictive values of the GISTNet diagnosis model was 100%, 67%, 75% and 100%, respectively. The accuracy rate of the GISTNet diagnosis model was better than that of the GIST-risk model and the manual readings from two radiologists with 3 years and 9 years of work experience (83% vs. 75%, 60%, 65%), and was close to the manual reading of the radiologist with 19 years of work experience (83% vs. 80%). Conclusion: The deep learning algorithm based on contrast-enhanced CT has favorable and reliable diagnostic accuracy in distinguishing gastric GIST with a diameter ≤ 5 cm and other gastric SMT before operation.


Assuntos
Aprendizado Profundo , Tumores do Estroma Gastrointestinal , Neoplasias Gástricas , Diagnóstico Diferencial , Tumores do Estroma Gastrointestinal/diagnóstico por imagem , Humanos , Estudos Retrospectivos , Neoplasias Gástricas/diagnóstico por imagem , Tomografia Computadorizada por Raios X
11.
Zhonghua Wei Chang Wai Ke Za Zhi ; 24(9): 804-813, 2021 Sep 25.
Artigo em Chinês | MEDLINE | ID: mdl-34530562

RESUMO

Objective: To investigate the clinicopathological features of gastrointestinal stromal tumor (GIST) with KIT/PDGFRA "homozygous mutation", the efficacy of targeted therapy and the prognosis. Methods: A retrospective cohort study and propensity score matching were used. "Homozygous mutation" was defined as the detection of KIT/PDGFRA gene status of GIST by Sanger sequencing, which showed that there was only mutant gene sequence in the sequencing map, lack of wild-type sequence or the peak height of mutant gene sequence was much higher than that of wild-type gene sequence (> 3 times). "Heterozygous mutation" was defined as the mutant gene sequences coexisted with wild type gene sequences, and the peak height was similar (3 times or less). The clinicopathological data and follow-up information of 92 GIST patients with KIT/PDGFRA "homozygous mutation" were collected from 4 hospitals in Shanghai from January 2008 to May 2021 (Renji Hospital, Shanghai Jiaotong University School of Medicine: 70 cases; Zhongshan Hospital, Fudan University: 14 cases; Changhai Hospital, Naval Military Medical University: 6 cases and Ruijin Hospital, Shanghai Jiaotong University School of Medicine: 2 cases). Patients with perioperative death, other malignancies, and incomplete clinicopathological information were excluded. The clinicopathological features of the patients and the efficacy of targeted drug therapy were observed and analyzed. The efficacy was evaluated using Choi criteria, which were divided into complete response (CR), partial response (PR), stable disease (SD) and progressive disease (PD). In addition, a total of 230 patients with high-risk GIST with "heterozygous mutation" in exon 11 of KIT gene and 117 patients with recurrent or metastatic GIST with "heterozygous mutation" in exon 11 of KIT gene were included. The propensity score matching method was used to match GIST patients with "heterozygous" and "homozygous" mutations in exon 11 of KIT gene (1∶1) for survival analysis. The disease-free survival (DFS) between two groups of high-risk GIST patients who underwent complete surgical resection were compared. And progression-free survival (PFS) in patients with recurrent or metastatic GIST were compared. Results: Of the 92 GIST cases with KIT/PDGFRA "homozygous mutation", 58 were males and 34 were females, with a median onset age of 62 (31-91) years. Primary GIST 83 cases. Primary high-risk GIST (53 cases), metastatic GIST (21 cases) and recurrent GIST (9 cases) accounted for 90.2% (83/92). There were 90 cases of KIT gene"homozygous mutation" (exon 11 for 88 cases, exon 13 for 1 case, exon 17 for 1 case), and 2 cases of PDGFRA gene "homozygous mutation" (exon 12 for 1 case, exon 18 for 1 case). The median follow-up time was 49 (8-181) months. Among the 61 cases of primary localized GIST undergoing complete surgical resection, 2 cases were intermediate-risk GIST, 5 cases were low-risk GIST, and 1 case was very low-risk GIST, of whom 1 case of intermediate-risk GIST received 1-year adjuvant imatinib mesylate (IM) therapy after operation, and no tumor recurrence developed during the follow-up period. The remaining 53 cases were high-risk GIST, and follow-up data were obtained from 50 cases, of whom 22 developed tumor recurrence during follow-up. Of 9 patients directly receiving neoadjuvant targeted therapy (IM or avapritinib), 5 had complete imaging follow-up data, and the evaluation of efficacy achieved PR. Of all the 92 GIST cases with KIT/PDGFRA "homozygous mutation", 50 (54.4%) had tumor metastasis or tumor recurrence or progression during follow-up, and 12 (13.0%) died of the tumor. Survival analysis combined with propensity score showed that in 100 cases of high-risk GISTs with complete resection, GISTs with "homozygous mutation" in exon 11 of KIT gene had shorter disease-free survival (DFS) than GISTs with "heterozygous mutation" in exon 11 of KIT gene (median DFS: 72 months vs. 148 months, P=0.015). In 60 cases of recurrent or metastatic GISTs with KIT gene exon 11 mutation, IM was used as the first-line treatment, and the progression-free survival (PFS) of GISTs with "homozygous mutation" was shorter compared to GISTs with "heterozygous mutation" (median PFS: 38 months vs. 69 months, P=0.044). The differences were statistically significant. Conclusions: "Homozygous mutation" in KIT/PDGFRA gene is associated with the progression of GIST. The corresponding targeted therapeutic drugs are still effective for GIST with KIT/PDGFRA gene "homozygous mutation". Compared with GIST patients with "heterozygous mutation" in KIT exon 11, GIST patients with "homozygous mutation" in KIT exon 11 are more likely to relapse after surgery and to develop resistance to IM. Therefore, it is still necessary to seek more effective treatment methods for this subset of cases.


Assuntos
Antineoplásicos , Tumores do Estroma Gastrointestinal , Idoso , Idoso de 80 Anos ou mais , Antineoplásicos/uso terapêutico , China , Feminino , Tumores do Estroma Gastrointestinal/tratamento farmacológico , Tumores do Estroma Gastrointestinal/genética , Humanos , Masculino , Pessoa de Meia-Idade , Mutação , Recidiva Local de Neoplasia , Prognóstico , Proteínas Proto-Oncogênicas c-kit/genética , Pirazóis , Pirróis , Receptor alfa de Fator de Crescimento Derivado de Plaquetas/genética , Estudos Retrospectivos , Triazinas
12.
Zhonghua Wei Chang Wai Ke Za Zhi ; 24(9): 830-835, 2021 Sep 25.
Artigo em Chinês | MEDLINE | ID: mdl-34530567

RESUMO

Intra-abdominal desmoid tumor (IADT) and gastrointestinal stromal tumor (GIST) are both mesenchymal tumors mostly found in gastrointestinal tracts and easily misdiagnosed, which would directly damage the survival prognosis and quality of life of patients. With the advent of the era of precision medicine, the understanding of the above two diseases is more in-depth, and the requirements for accurate diagnosis and individualized precision treatment are more stringent. Moreover, there seems to be some internal relationship between IADT and GIST, and the lack of systematic research and discussion makes clinical decision-making and patient management easy to fall into traps and misunderstandings. Therefore, this paper reviews the clinical characteristics, pathogenesis and treatments of the two, and explore their differences and internal relations, so as to provide research and practical reference for promoting more precise and individualized diagnosis and treatment regimens.


Assuntos
Fibromatose Agressiva , Tumores do Estroma Gastrointestinal , Tomada de Decisão Clínica , Fibromatose Agressiva/diagnóstico , Tumores do Estroma Gastrointestinal/diagnóstico , Humanos , Prognóstico , Qualidade de Vida
13.
Zhonghua Er Ke Za Zhi ; 59(10): 853-858, 2021 Oct 02.
Artigo em Chinês | MEDLINE | ID: mdl-34587682

RESUMO

Objective: To summarize the clinical features and therapeutic outcomes of patients with hyperinsulinemic hypoglycemia (HH) auxiliarily diagnosed by 18F-DOPA positron emission tomography (PET) CT scanning. Methods: The clinical data of 123 patients who were diagnosed with hyperinsulinemic hypoglycemia by comprehensive clinical diagnostic procedures in the Department of Pediatric Endocrinology and Inherited Metabolic Diseases, Children's Hospital of Fudan University between January 2016 and December 2020 were retrospectively analyzed. Clinical data such as gender, age of onset, province, concurrent serum insulin level measured during hypoglycemia, lesion type of pancreas by 18F-DOPA-PET CT scanning, genetic test results, and treatment were collected successively. The clinical features and therapeutic outcomes were compared between patients with focal and diffuse pancreatic lesions. T test, Rank sum test, and χ² test were used for comparison between groups. Results: A total of 123 patients with hyperinsulinemic hypoglycemia (72 males and 51 females), whose average age of onset was 3 days (ranging from 1 day to 4 860 days), were recruited from 24 provinces. The concurrent serum insulin level was 7.1 (0.4-303.0) mU/L during hypoglycemia. 18F-DOPA-PET CT scanning identified focal lesions in 25.2% (31/123) and diffuse lesions in 74.8% (92/123) of the patients; 64.2% (79/123) of the HH cases were found to have pathogenic gene variants, in which 88.6% (70/79) were found to have KATP channel related genes (61 in ABCC8 and 9 in KCNJ11 mutations). Thirty-seven patients (17 focal and 20 diffuse) received surgical treatment with a success rate of 67.6% (25/37). The effective rate of diazoxide for children with diffuse type was significantly higher than that of children with focal group (28.3% (26/92) vs. 9.7% (3/31), χ²=10.31, P=0.001). Conclusions: 18F-DOPA-PET CT scan can improve the success rate of surgery. Comprehensive diagnosis of the etiology of hyperinsulinemic hypoglycemia by genetic analysis and 18F-DOPA-PET CT scanning can result in better treatment and prognosis.


Assuntos
Hiperinsulinismo Congênito , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada , Criança , Hiperinsulinismo Congênito/diagnóstico por imagem , Hiperinsulinismo Congênito/tratamento farmacológico , Hiperinsulinismo Congênito/genética , Di-Hidroxifenilalanina/análogos & derivados , Feminino , Humanos , Masculino , Tomografia por Emissão de Pósitrons , Estudos Retrospectivos
14.
Animal ; 15(10): 100354, 2021 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-34543995

RESUMO

Pudong White (PDW) pigs, historically originating from Shanghai, are the only Chinese indigenous pigs characterised by their completely white coats, with the exception of Rongchang pigs. However, there is limited information concerning their overall genetic structure or relationship with other breeds, especially the East Chinese (ECN) and European pigs. To uncover the genetic structure, selection signatures, and potential exotic introgression in PDW pigs, we sampled 15 PDW pigs using whole-genome sequencing (~20×). We then conducted in-depth population genetic analyses in 320 pigs from 27 global pig groups, namely, European wild boars, Chinese wild boars, and outgroup. Neighbour-joining tree and principal component analysis confirmed that PDW pigs belonged to the ecotype of ECN pigs. Both f3, D-statistics, and structure analysis showed that PDW pigs shared apparent alleles with Large White (LW) pigs. Three statistics, rIBD, a haplotype heat map and copy number variation, further indicated that PDW pigs shared apparent alleles with LW pigs at the KIT Proto-Oncogene, Receptor Tyrosine Kinase (KIT) and PARG-MARCHF8 loci, suggesting that the lineage of European pigs in PDW originated from LW pigs. After further detecting the KIT mutations in different pig breeds, PDW was confirmed to have the same duplication region 1, duplication region 2, and the splicing mutation on intron 17 of KIT as LW pigs that determine the white coat colour phenotype in European white pigs. We hypothesised that LW pigs were imported to China ∼110-160 years ago according to the admixture time estimate and then crossed with ECN pigs, resulting in the introgression of the KIT alleles that produce the white coat colour phenotype in the PDW pig breed. To our knowledge, this study presents the first thorough description of the genetic structure of PDW pigs via whole-genome resequencing data; moreover, the results provide a basis for the national project for the conservation of this unique Chinese local population.


Assuntos
Variações do Número de Cópias de DNA , Melhoramento Vegetal , Alelos , Animais , China , Variação Genética , Fenótipo , Suínos/genética
18.
Zhonghua Yi Xue Za Zhi ; 101(32): 2559-2562, 2021 Aug 24.
Artigo em Chinês | MEDLINE | ID: mdl-34407583

RESUMO

The clinical data of 18 patients with biopsy-proven IgG4-related kidney disease (IgG4-RKD) in Peking University First Hospital from Jananuary 2012 to Jananuary 2017 were analyzed retrospectively. The prevalence of elevated IgG4 and hypocomplement C3 were commonly found. Acute kidney disease accounted for 9 cases. Pathological examination showed IgG4 associated tubulointerstitial nephritis, with IgG4-ANCA or anti-PLA2R associated crescentic nephritis in 3 cases, and membranous nephropathy in 2 cases. Patients with erythrocyte sedimentation rate>60 mm/1 h had higher acute tubulointerstitial injury scores. Improved renal function was observed in 15 patients under immunosuppressive therapy. But 3 patients relapsed during follow-up. IgG4-RKD with concurrent glomerulopathy is not uncommon. Biopsy-based kidney examination is recommended.


Assuntos
Doença Relacionada a Imunoglobulina G4 , Nefrite Intersticial , Humanos , Rim/fisiologia , Prognóstico , Estudos Retrospectivos
19.
Zhonghua Yi Xue Za Zhi ; 101(31): 2460-2464, 2021 Aug 17.
Artigo em Chinês | MEDLINE | ID: mdl-34399560

RESUMO

Objective: To quantitatively analyze the reticulin fiber intensity density (RFD) in patients with myelodysplastic syndrome (MDS) by using the computer-aided grid point method, and preliminarily explore its correlation with the prognosis of MDS patients. Methods: Bone marrow (BM) slices from 32 primary MDS patients treated in Tongren Hospital Shanghai Jiao Tong University School of Medicine from February 2017 to December 2019 were observed. Images were taken by the optical microscope imaging system after the Gomori staining. The computer grid marking software was developed according to the principle of the mesh micrometer to assess RFD, meanwhile, the artificial semi-quantitative were used to assess the fibrosis of bone marrow. The co-relation between the above two methods was evaluated, and the relationship between RFD and prognosis of MDS patients were further investigated with Cox regression analysis. Results: Of the patients, there were 17 males and 15 females with a median age of 69 years (32-91 years). The RFD quantitatively analyzed by the computer-based method was positively correlated with the myelofibrosis grade by the artificial semi-quantitative analysis (r=0.497, P=0.004). The RFD in patients diagnosed with MDS complicated with excess blasts (MDS-EB) was significantly higher than that in the non-MDS-EB group((9.55%±0.75%) vs (1.71%±0.23%), P<0.001). Cox regression model analysis showed that the RFD of MDS patients had better prognostic value when compared with the artificial semi-quantitative analysis, which was also a poor prognostic factor (RR=1.337, 95%CI: 1.085-1.648, P=0.006). The overall survival (OS) of patients with RFD>5.54% was significantly shorter than that with RFD≤5.54% (P=0.001). The OS of MDS-EB patients with RFD>9.81% was significantly shorter than that in patients with RFD≤9.81% (P=0.003). Conclusion: Abnormal proliferative fibrosis of bone marrow is a potential high-risk factor for poor prognosis of MDS patients.


Assuntos
Síndromes Mielodisplásicas , Mielofibrose Primária , Idoso , China , Feminino , Humanos , Masculino , Prognóstico , Estudos Retrospectivos
20.
Zhonghua Er Ke Za Zhi ; 59(7): 570-575, 2021 Jul 02.
Artigo em Chinês | MEDLINE | ID: mdl-34405639

RESUMO

Objective: To explore the genetic etiologies of newborn deaths. Methods: A total of 98 newborns who were recruited to the Neonatal Genome Project of the Children's Hospital of Fudan University and died in the hospital from January 2018 to August 2020 were enrolled in this study. The genetic information and the interventions based on the genetic findings were retrospectively analyzed. T-test, Mann-Whitney U test, Chi square test and Fisher's exact probability test were used to compare the demographic features and clinical characteristics between the patients with or without a genetic finding. Results: Among 98 newborns (55 males and 43 females), there were 63 preterm and 35 term infants, with a gestational age of (33±5) weeks, a birth weight of (2 107±975) g and the age at death of 12 (2,34) days. Sixteen (16%)patients were identified with genetic variants, including 11 with single nucleotide variants, 4 with copy number variants and 1 with both single nucleotide variant and copy number variant. The detected single nucleotide variants were spanning 12 genes, among which 3 were multiple disorders-related, 2 metabolic disorder-related, 2 hematological disorder-related, 2 respiratory disorder-related, 2 cardiovascular disorder-related and 1 skeletal disorder-related. The patients with a positive genetic finding had significant differences in the birth weight ((2 605±940) vs. (2 009±957) g, t=2.283, P=0.025), the gestational age ((36±5) vs. (33±5) weeks, t=2.131, P=0.036), the age at death ((37 (5, 69) vs. 11 (2, 29) days, Ζ=-2.245, P=0.025) and the history of asphyxia at birth (1/16 vs. 46% (38/82), P=0.002)when compared to those without a genetic finding. In addition, the genetic etiology rates of patients who were born term or with a birth weight ≥ 2 000 g were significantly higher than those who were born preterm (29% (10/35) vs. 10% (6/63), P=0.022) or with a birth weight<2 000 g (25% (13/51) vs. 7% (3/46), χ2=5.016,P=0.025), respectively. Six cases were medically actionable based on the genetic findings and the treatments included special diet, applying specific medicine, hematopoietic stem cell transplantation and lung transplantation. Conclusions: Genetic etiologies are not rare in newborn deaths and mainly associated with metabolic disorder, multi-system disorders, hematological disorder, respiratory disorder, cardiovascular disorder and skeletal disorder. Some findings are medically actionable, based on which the specific treatments could be scheduled timely. A genetic etiology should be investigated in newborn deaths especially in those who are term birth or with a birth weight ≥2 000 g or without a history of asphyxia at birth.


Assuntos
Estudos Retrospectivos , Peso ao Nascer , Feminino , Idade Gestacional , Humanos , Lactente , Recém-Nascido , Masculino , Fatores de Risco
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