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1.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wpr-1016778

RESUMO

Objective To explore the therapeutic effect of "jian pi yi qi yang xue zhi tong" for treating bone metastasis of breast cancer and the clinical effect of improving pain symptoms. Methods A total of 80 patients with bone metastases from breast cancer were admitted. They were randomly divided into an observation group and a control group according to the random-number-table method. The control group was treated with zoledronic acid, whereas the observation group was treated with jian pi yi qi yang xue zhi tong prescriptions based on the control group. We compared the differences in the effects of different treatment plans on patients' pain symptoms, physical condition, and quality of life, as well as TNF-α, IL-6, and CRP levels. Results No significant difference was found in pain scores, physical condition scores, sleep quality scores, and quality of life scores, as well as CRP, IL-6, and TNF-α levels between the two groups of patients before treatment (all P > 0.05). At one, two, and four months after treatment, the pain scores of both groups of patients decreased, with the observation group having lower scores than the control group (P < 0.05). The total pain-relief rate of the observation group was higher than that of the control group (P < 0.05). After treatment, the sleep quality scores and the levels of CRP, IL-6, and TNF-α decreased, with the observation group having lower values than the control group (P < 0.05). The physical condition scores and the quality of life scores of both groups improved, with the observation group having higher values than the control group (P < 0.05). Conclusion In patients with bone metastases from breast cancer, oral treatment with jian pi yi qi yang xue zhi tong prescription has a significant effect. It substantially improves the pain symptoms, enhances the quality of sleep and life of patients, and reduces the levels of CRP, IL-6, and TNF-α.

2.
Journal of Practical Radiology ; (12): 297-301,310, 2024.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wpr-1020206

RESUMO

Objective To evaluate the value of high-energetic virtual monoenergetic imaging(MonoE),bone metal artifact reduction(O-MAR),and their combination based on dual-layer detector spectral computed tomography(DLCT)in removing the artifacts caused by lumbar metal implants.Methods Patients who undergone lumbar implant surgery and performed lumbar examination on DLCT after surgery were prospectively selected.MonoE from 100 to 200 keV with an interval of 20 keV were reconstructed.O-MAR and O-MAR combined with MonoE(O-MAR+MonoE)images were also reconstructed.The differences of objective and subjective image quality among the images were compared.Results There were 45 patients included in the study.With the increasing of keV of MonoE,the attenuation of the tissue with low-and high-density artifact on MonoE and O-MAR+MonoE was increased and decreased,respectively.140 keV MonoE was the best sequence for the artifact reduction and the display of soft tissue.200 keV MonoE and its combination with O-MAR showed the best performance in the display of the interface of metal and bone.However,O-MAR+200 keV MonoE had the lowest noise.Conclusion Compared to O-MAR and O-MAR combined with MonoE,high-energetic MonoE shows a good value in the reduction of metal artifacts caused by the lumbar metal implants.

3.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wpr-1029089

RESUMO

Childhood is an important period for individual health. In order to provide community child health services, Zhoujiaqiao Community Health Service Center of Shanghai Changning District has opened a pediatric clinic since July 2017. Through equipping basic facilities, personnel training, extending service items and service time, allocating resources with cooperative hospitals, optimizing internal system management and other methods, the community pediatric service under the family physician team model has been initially constructed. The article summarizes experiences in the construction and operation of community pediatric services and child health care, to provide reference for the development of a replicable and promotable urban community pediatric service system under the contracted family physician team model.

4.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wpr-992840

RESUMO

Objective:To explore the values of ultrasound, pathology combined with inflammatory indicators in predicting high nodal burden (HNB) in patients with early breast cancer and to construct a nomogram to provide reference for individualized diagnosis and treatment.Methods:The ultrasonographic, pathological features and preoperative inflammatory indicators of 378 female patients diagnosed with early breast cancer confirmed by pathology in the South Hospital of the Sixth People′s Hospital Affiliated to Shanghai Jiaotong University from January 2014 to July 2022 were retrospectively analyzed. They were randomly divided into training set ( n=302) and test set ( n=76) in a ratio of 8∶2, and the baseline data of the two groups were compared. The optimal cutoff values of neutrophil to lymphocyte ratio (NLR), platelet to lymphocyte ratio (PLR) and lymphocyte to monocyte ratio (LMR) were obtained by ROC curve. In the training set, with axillary high lymph node load (≥3 metastatic lymph nodes) as the dependent variable, independent influencing factors of HNB were identified by univariate and multivariate Logistic regression analyses, and the nomogram was established. The test set data were used to verify the model. The discrimination, calibration and clinical applicability of the model were assessed by the area under the ROC curve (AUC), C-index, the calibration curve, Brier score and the decision curve analysis, respectively. Results:There were no significant differences in all variables between the training set and the test set (all P>0.05). ROC curve analysis results showed that AUCs of NLR, PLR and LMR were 0.578, 0.547 and 0.516, respectively, and the optimal cut-off values were 2.184, 150 and 3.042, respectively. Univariate Logistic regression analysis showed that age, pathological type, histological grade, Ki-67, lymphovascular invasion, NLR, PLR, ultrasonic characteristics (maximum diameter of primary tumor, shape, long/short diameter of lymph node, cortical thickness, cortical and medullary boundary, lymph node hilum, lymph node blood flow pattern) were correlated with HNB of early breast cancer (all P<0.05). Multivariate Logistic regression analysis showed that ultrasonic characteristics (maximum diameter of primary tumor >2 cm, effacement of lymph node hilum, non-lymphatic portal blood flow), lymphovascular invasion, Ki-67>14% and NLR>2.184 were independent risk factors for HNB in early breast cancer ( OR=7.258, 8.784, 6.120, 8.031, 3.394 and 3.767, respectively; all P<0.05) and were used to construct the nomogram model. The AUC of the training set was 0.914 (95% CI=0.878-0.949), C-index was 0.914; The AUC of the test set was 0.871 (95% CI=0.769-0.973), C-index was 0.871, indicating good discrimination. Calibration curve and Brier score were 0.090, indicating high calibration degree of the model. The clinical decision curve indicated good clinical benefit. Conclusions:The nomogram based on ultrasonic characteristics (maximum diameter of primary tumor, lymph node hilum, lymph node blood flow pattern), lymphovascular invasion, Ki-67 and NLR can effectively predict the risk of HNB in patients with early breast cancer, and provide a reference for precision diagnosis and treatment to avoid excessive or insufficient treatment.

5.
Chinese Journal of Geriatrics ; (12): 347-351, 2023.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wpr-993819

RESUMO

Objective:To investigate the role of kinesin family proteins(KIF)2C in chemoresistance of epithelial ovarian cancer and its potential molecular mechanism.Methods:The differential expression of KIF2C in cisplatin-sensitive cell line A2780 and cisplatin-resistant cell line A2780DDP was detected.Different concentrations and time of cisplatin were added to A2780 cell line to detect the differential expression of KIF2C.The ovarian cancer cell line KIF2C-OV with stable overexpression of KIF2C was constructed by lentivirus infection of A2780DDP cell line.The same concentration of cisplatin was added to KIF2C-OV and its control group(Ctrl-OV)cell lines.The effect of KIF2C overexpression on the proliferation of drug-resistant cell line A2780DDP was detected by Cell Counting Kit-8(CCK-8). Finally, the molecular mechanism of KIF2C resistance in ovarian cancer cell lines was preliminarily explored.Results:KIF2C was significantly down-regulated in A2780DDP cells.After cisplatin was added to A2780 cell line, the expression of KIF2C decreased with the increase of cisplatin concentration and action time.The ovarian cancer cell line KIF2C-OV with stable overexpression of KIF2C was constructed by lentivirus infection of A2780DDP cell line.After adding cisplatin, the proliferation ability of KIF2C-OV cell line was significantly lower than that of Ctrl-OV cell line.The expression of p-Erk was increased in A2780DDP cell line.The expression of p-Erk in A2780 cell line was increased with the increase of cisplatin concentration and time.After overexpression of KIF2C in A2780DDP ovarian cancer cell line, the expression level of p-Erk decreased.Conclusions:KIF2C may be a potential target gene of chemotherapy resistance in ovarian cancer, which may play its role through MAPK/ERK pathway.

6.
Chinese Journal of Dermatology ; (12): 563-566, 2023.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wpr-994502

RESUMO

This review comprehensively summarizes clinical assessment tools which have been developed and validated for cholinergic urticaria (CholU) , involving diagnosis and severity assessment of CholU, assessment of patients′ quality of life, and assessment of disease control. The application methods and status of relevant tools in clinical practice are introduced in detail.

7.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wpr-995147

RESUMO

Objective:To evaluate the role of improved management procedures in placenta accreta spectrum disorders (PAS) and its impact on maternal and infant outcomes.Methods:This retrospective study involved 164 pregnant women who were diagnosed with PAS complicated with placenta previa and delivered at Nanjing Drum Tower Hospital, Nanjing University Medical School from January 2019 to December 2022. All subjects were allocated to pre-improvement group (January 2019 to December 2020, n=96) and post-improvement group (January 2021 to December 2022, n=68). The management was improved in the following five aspects: (1) The time for scheduled delivery was postponed to 37 weeks from 34-36 weeks;(2) Intraoperative cell salvage was encouraged despite autologous blood donation during pregnancy;(3) Original surgical incision was utilized instead of mid-longitudinal incision in the lower abdomen to reduce operative trauma; (4) A lower segment incision of the uterus was not prohibited based on pre-operative PAS classification and intra-operative situation to enter the uterine cavity, even through the placenta instead of pass-by;(5) The interface between lower uterine segment and bladder was dissected before instead of after the baby was born and uterine blood supply was stopped by tourniquet or Scharr forceps. Statistical methods such as t-test, Chi-square test or Fisher exact probability method were used to compare the difference in maternal and infant outcomes between the two groups. Results:After the improvement, the delivery rate beyond 37 weeks decreased significantly [83.3% (80/96) vs 69.1% (47/68), χ 2=4.60, P=0.038]. There was no significant difference in the distribution of elective, subemergency and emergency surgeries before and after the improvement ( χ 2=0.36, P=0.834). Compared to the pre-improvement group, the proportion of women who underwent cesarean section through previous abdominal incisions increased significantly [74.0% (71/96) vs 91.1% (64/68), χ 2=11.11, P=0.001] in the post-improvement group, while the proportion of application of abdominal longitudinal incision and classical cesarean section decreased significantly [84.3% (81/96) vs 57.3% (39/68), χ 2=14.81, P<0.001; 83.3% (80/96) vs 61.8% (42/68), χ 2=9.72, P=0.003]. No significant difference was found between the two groups in terms of the transfusion rate of allogeneic red blood cell, platelet and other blood components, pre-discharge hemoglobin level, subtotal hysterectomy rate, bladder injury, thrombus event, the admission rate of intensive care unit and unplanned reoperation rate (all P>0.05). The incidence of admission in neonatal intensive care unit (NICU) and necrotizing enterocolitis decreased significantly after improvement [24.7% (24/97) vs 11.8% (8/68), χ 2=4.31, P=0.038; 4.1% (4/97) vs 0.0% (0/68), χ 2=58.06, P<0.001]. The incidence of respiratory distress syndrome, mechanical ventilation, and neonatal septicemia also decreased, but without statistical difference. Conclusions:After adopting a series of improvement measures, such as delaying planned delivery to 37 weeks of gestation, individualized cesarean section plan, and changing the method of obtaining autoblood, the number of premature infants and the NICU admission rate decreased significantly without increasing the risk of maternal complications and emergency operation. Furthermore, the incidence of adverse events such as maternal organ injury, unplanned reoperation, and re-admission remains at a low level. Therefore, this improved management is feasible.

8.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wpr-990529

RESUMO

Objective:To investigate the clinical characteristics of congenital esophageal atresia with gastric perforation, and to improve pediatricians′ understanding of this disease.Methods:The clinical data of five neonates with congenital esophageal atresia and gastric perforation treated in the neonatal intensive care unit of the Affiliated Hospital of Qingdao University from 2012 to 2022 were analyzed retrospectively.Results:Among the five neonates, four were boys and one was girl.The gestational age was 28 + 5 to 37 + 6 weeks, the birth weight was 1 100~2 350 g. All of them had dyspnea and feeding difficulties after birth.Gastric perforation occurred in three cases during invasive mechanical ventilation, one case during non-invasive ventilation, and one case during nasal catheter oxygen inhalation.Emergency primary gastric repair was performed, followed by secondary esophageal anastomosis.All the patients were cured and discharged from hospital. Conclusion:Gastric perforation is a rare complication of congenital esophageal atresia, which is more common in premature infants and low birth weight infants.Mechanical ventilation may promote the occurrence of gastric perforation.If gastric perforation is complicated, repair should be performed as soon as possible, and esophageal anastomosis surgery should be performed early after stability to improve the final outcome.

9.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wpr-1003904

RESUMO

It is believed that the fundamental pathogenesis of the connective tissue diseases-associated interstitial lung disease (CTD-ILD) is kidney essence deficiency, with lung collateral obstruction throughout the disease, and environmental toxin pathogen is the important causative factors for the development of CTD-ILD. This article proposed to restore origin and alleviate bi (痹) for CTD-ILD, for which restoring origin means tonifying the lungs, spleen and kidneys to bank up the roots and consolidate the original qi, with modified Erxian Decoction (二仙汤) plus Liu Junzi Decoction (六君子汤); alleviating bi means expelling wind and dredging collaterals, and eliminating the mass to restore the smoothness of the lung collaterals, with paired medicines of Chuanshanlong (Dioscorea nipponica)-Dilong (Kalanchoe pinnata), Vinegar-processed Sanleng (Sparganium stoloniferum)-Vinegar-processed Ezhu (Curcuma zedoaria), and stem-type medicines, and emphasized on removing the environmental toxin pathogens to facilitate the recovery of healthy qi.

10.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wpr-1038496

RESUMO

Objective@#To establish a Tohoku hospital pediatrics-1 (THP-1) cell line with G protein-coupled recep- tor108 ( GPR108) deletion and explore its functions.@*Methods@#According to the requirements of the clustered regularly interspaced short palindromic repeats ( CRISPR) / CRISPR-associated protein 9 ( Cas9 ) system ,two single guide RNAs (sgRNA1 and sgRNA2) paring to the flanking fragments of human GPR108 gene were designed and synthesized.The two oligonucleotides were inserted in the pL-CRISPR. EFS.GFP vector to generate the new recombinant vectors ( pL-CRISPR. EFS.GFP-sgRNA1 and pL-CRISPR. EFS.GFP-sgRNA2 ) .The recombinant vectors and packaging plasmids (pMD2. G and psPAX2) ,were co-transfected into 293T cells to generate virus for infecting THP-1 cells.The GFP + cells were screened and isolated in 96-well culture plates by flow cytometry to obtain single-cell clones.PCR and Western blot were used to detect whether GPR108 was successfully knocked out in THP- 1 cells.Both GPR108 + / + and GPR108 -/ - THP-1 cells were treated with lipopolysaccharide (LPS) .Interleukin 8 (IL-8) derived from the THP-1 cells,which were treated by LPS,was detected with Western blot and cytometric bead array ( CBA) analysis. @*Results@#The recombinant lentiviral vector pL-CRISPR. EFS.GFP-sgRNA was successfully constructed and single-cell clone F9 was obtained by flow cytometric sorting after transfection of THP-1 cells.PCR and Western blot both confirmed that F9 was a GPR108 -/ - THP-1 single-cell clone. LPS stimulated GPR108 -/ - and GPR108 + / + THP-1 cells,both Western blot and CBA results showed a significant decrease in IL- 8 synthesis and secretion in GPR108 -/ - THP-1 cells.@*Conclusion @#The GPR108 -/ - THP-1 cell clone is success- fully obtained based on the CRISPR / Cas9 system.GPR108 deletion in THP-1 cells treated by LPS leads to a decrease of IL-8 expression and secretion.It lays the foundation for further research on the molecular mechanisms of GPR108 in the immune inflammatory response.

11.
Chinese Journal of Health Statistics ; (6): 841-845,851, 2023.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wpr-1025285

RESUMO

Objective To compare the diagnostic index which used to evaluate the balance of covariates between groups in real world study(RWS).Methods Simulate RWS simulation data scenarios such as different inter group equilibrium degree,different covariate and exposure,outcome relationship,etc.by constructing the correlation model between each diagnostic index and estimation deviation,evaluate the accuracy and robustness of different single covariate and global covariate diagnostic indexes.Results In addition to L1 measure,standardized difference,overlap coefficient,K-S distance,Lévy distance,Mahalanobis distance and general weighted difference can distinguish different degrees of inter group covariate equilibrium.The R2 of the correlation models estimated by the C-statistic based on propensity score and the general weighted difference diagnostic index is greater than 0.8,and the intercept value approaches the origin,which is the most accurate and stable for the diagnosis of inter group equilibrium.Conclusion The single covariate diagnosis index can evaluate the balance of covariates between groups of RWS data,but the accuracy,sensitivity and robustness of the global diagnosis index are better.Among them,the diagnosis effect of L1 measure is poor,while of the C-statistic based on propensity score is the best.

12.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wpr-957507

RESUMO

Objective:To identify the risk factors for postoperative pulmonary complications (PPCs) in elderly patients undergoing hip surgery.Methods:The medical records of elderly patients, aged ≥ 65 yr, of American Society of Anesthesiologists (ASA) physical statusⅠ-Ⅳ, who underwent hip surgery from June 2013 to May 2019, were retrospectively collected.The patients′ sex, age, body weight, preoperative comorbidities, history of smoking and alcohol, results of the last laboratory test before surgery; mode of anesthesia, intraoperative medication, body temperature monitoring, fluid intake and output, operation time, anesthesia time; postoperative PPCs and postoperative nausea and vomiting, requirement for rescue analgesia, length of hospital stay, and perioperative blood transfusion were all collected.According to the occurrence of PPCs, patients were divided into PPCs group and non-PPCs group.Multivariable logistic regression was used to determine the risk factors for PPCs.Results:A total of 1 204 patients were finally enrolled in this study, 75 patients developed PPCs, and the incidence was 6.22%.The results of multivariate logistic regression showed that ASA physical status Ⅲ or Ⅳ, preoperative respiratory disease, postoperative transfer to intensive care unit, and perioperative blood transfusion were risk factors for PPCs, and general anesthesia combined with nerve block was a protective factor for PPCs in elderly patients undergoing hip surgery ( P<0.05). Conclusions:ASA physical status Ⅲ or Ⅳ, preoperative respiratory disease, postoperative transfer to intensive care unit, and perioperative blood transfusion are risk factors for PPCs, and general anesthesia combined with nerve block is a protective factor for PPCs in elderly patients undergoing hip surgery.

13.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wpr-986625

RESUMO

Objective To explore the effect of Linc00460 on the aerobic glycolysis of breast cancer (BC) cells through sponge adsorption of miR-320a. Methods The qRT-PCR method was used to detect Linc00460 and miR-320a expression levels in normal breast epithelial cell line MCF-10A and five BC cell lines. The effect of interfering Linc00460 on miR-320a expression was detected by qRT-PCR. The double luciferase reporter gene experiment was used to analyze the targeting relationship between miR-320a and Linc00460. In addition, the si-Linc00460 and miR-320a inhibitor were co-transfected into MDA-MB-231 cells, and the expression level of miR-320a in the cells was detected by qRT-PCR; cell proliferation ability was measured by the MTT method; glucose uptake rate was detected by 2-NBDG method; the content of lactic acid in the cell supernatant was detected by colorimetric method; the key enzymes of glycolysis was detected by the enzyme activity kit; and the expression levels of the key proteins in the glycolysis pathway were detected by Western blot. Results Linc00460 was highly expressed in five BC cell lines, while miR-320a was lowly expressed as compared with MCF-10A cells. The expression of miR-320a in MDA-MB-231 cells significantly increased after interfering with Linc00460. The double luciferase reporter gene experiment confirmed that miR-320a and Linc00460 could target binding. Interfering with the expression of Linc00460 could inhibit MDA-MB-231 cells proliferation (all P=0.000), reduce the rate of cellular glucose uptake and the content of lactic acid in the cell supernatant (all P=0.000), inhibit the activities of PFK, PK, and LDH enzymes (all P=0.000), and downregulate the protein expression levels of PFKM, GLUT1, and LDHA (all P=0.000). Meanwhile, inhibition of miR-320a could reverse the inhibitory effect of si-Linc00460 on the proliferation and glycolysis of MDA-MB-231 cells (all P=0.000 or 0.001). Conclusion Linc00460 might adsorb miR-320a, consequently leading to upregulation of PFKM expression, thereby promoting aerobic glycolysis in BC cells.

14.
Hum Cell ; 34(4): 1197-1214, 2021 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-33905103

RESUMO

Ovarian cancer is the most deadly gynecological malignant tumor in the world today. Previous studies have shown that insulin-like growth factor-1 receptor (IGF-1R) is closely related to the occurrence and development of ovarian cancer, and ovarian cancer cells endogenously express high IGF-1R. Therefore, IGF-1R could be used as a target for ovarian cancer treatment. In the past, the strategy for preparing IGF-1R antagonists was to use IGF-1R antibody and small-molecule inhibitor. In the current research, we use a new method to prepare IGF-1R antagonists. We prepared a series of IGF-1 internal imaging anti-idiotypic antibodies by anti-idiotypic antibody strategy. After a series of screening and identification, one of the anti-idiotypic antibodies (B003-2A) was selected for further evaluation, and the results showed that B003-2A could not only inhibit the binding of IGF-1 to IGF-1R but also inhibit the signaling mediated by IGF-1R. Further work showed that B003-2A inhibited the proliferation of ovarian cancer cells in vivo and in vitro. In addition, the current study also indicates that B003-2A could enhance the sensitivity of cisplatin in cisplatin-resistant ovarian cancer cell lines. In summary, our research shows that B003-2A can be used to treat ovarian cancer. The current study also laid the foundation for the development of IGF-1R antagonist.


Assuntos
Anticorpos Anti-Idiotípicos/farmacologia , Antineoplásicos/farmacologia , Cisplatino/farmacologia , Resistencia a Medicamentos Antineoplásicos/efeitos dos fármacos , Neoplasias Ovarianas/patologia , Receptor IGF Tipo 1/antagonistas & inibidores , Receptor IGF Tipo 1/imunologia , Animais , Anticorpos Anti-Idiotípicos/uso terapêutico , Linhagem Celular Tumoral , Proliferação de Células/efeitos dos fármacos , Feminino , Expressão Gênica , Humanos , Fator de Crescimento Insulin-Like I/metabolismo , Camundongos Endogâmicos BALB C , Neoplasias Ovarianas/tratamento farmacológico , Neoplasias Ovarianas/genética , Coelhos , Receptor IGF Tipo 1/genética , Receptor IGF Tipo 1/metabolismo
15.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wpr-1015026

RESUMO

The clinical symptoms of chronic insomnia are various, the clinical diagnosis process needs to be combined with sleep parameters, daytime symptoms and psychological status of patients. Recently, the neuroimaging research suggests that chronic insomnia patients have certain structural changes and functional changes, which leads a new direction for the following research. The new drugs for the treatment of chronic insomnia, improving receptor specificity or increasing intervention targets, will provides more choices for patients.

16.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wpr-921983

RESUMO

OBJECTIVE@#To investigate the clinical features and SLC35A2 variant of a case of congenital disorder of glycosylation type IIm (CDG-IIm), and to identify the possible causes of the disease.@*METHODS@#Trio-whole exome sequencing (WES) was used to analyze the gene variant of the children and their parents. The suspicious gene variants were screened for Sanger verification and the bioinformatics prediction was used to analyze the hazard of variant.@*RESULTS@#The clinical manifestations of the child were epilepsy, global growth retardation, nystagmus, myocarditis and other symptoms. MRI showed brain dysplasia such as wide frontal temporal sulcus and subarachnoid space on both sides. Echocardiography showed left ventricular wall thickening and patent foramen ovale. According to the results of gene detection, there was a heterozygous missense variant c.335C>A (p.Thr112Lys) in SLC35A2 gene. The parents were wild-type at this locus, which was a de novo variant. At the same time, there was no report of this variant in the relevant literature, which was a novel variant in SLC35A2 gene. According to the genetic variant guidelines of American College of Medical Genetics and Genomics, SLC35A2 gene c.335C>A (p.Thr112Lys) variant was predicted to be likely pathogenic (PS2+PM2+PP3).@*CONCLUSION@#The variant of SLC35A2 gene c.335C>A(p.Thr112Lys) may be the cause of the disease in the child.


Assuntos
Criança , Humanos , Defeitos Congênitos da Glicosilação/genética , Glicosilação , Imageamento por Ressonância Magnética , Proteínas de Transporte de Monossacarídeos/genética , Sequenciamento do Exoma
17.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wpr-863881

RESUMO

Objective:To investigate the expression of interleukin-10 (IL-10) and chemokine receptor 7 (CXCR7) in papillary thyroid carcinoma (PTC) tissues and their correlation with invasion and metastasis.Methods:According to the inclusion and exclusion criteria, 68 cases of cancer tissues (cancer tissue group) and para-cancer tissues (para-cancer tissue group) collected from PTC patients in Wenzhou Hospital of Traditional Chinese Medicine from Jun. 2015 to Jun. 2018 were selected. Meanwhile, pathological specimens from 32 cases of thyroid follicular adenoma patients (thyroid follicular adenoma group) undergoing thyroidectomy during the same period were also enrolled. Immunohistochemical SP staining was used to observe the expression of IL-10 and CXCR7 in different tissues, and the correlation between the expression of IL-10 and CXCR7 and the pathological characteristics of tumor was analyzed.Results:The positive expression rates of IL-10 and CXCR7 in cancer tissues were significantly higher than those in para-cancer tissues and thyroid follicular adenoma group (88.24% vs. 14.71% vs. 0.00%, 75.00% vs. 32.35% vs. 15.63%; P<0.05) . Among 68 PCT patients, 38 (55.88%) had high expression of IL-10, 30 (44.12%) had low expression of IL-10, 32 (47.06%) had high expression of CXCR7, and 36 (52.94%) had low expression of CXCR7. IL-10 expression was positively correlated with tumor multifocal, TNM stage, central lymphatic metastasis, central + cervical lymphatic metastasis, invasion degree and tumor maximum diameter ( r=0.486, 0.509, 0.468, 0.422, 0.629, 0.674, P<0.05) . CXCR7 expression was positively correlated with tumor multifocal, TNM staging, central lymphatic metastasis, central + cervical lymphatic metastasis, and infiltration (r=0.425, 0.563, 0.490, 0.287, 0.481, P<0.05) . Conclusions:IL-10 and CXCR7 are highly expressed in cancer tissues of PTC patients, among which IL-10 expression level is closely related to tumor differentiation degree, TNM stage, cervical lymphatic metastasis, infiltration degree and tumor maximum diameter. CXCR7 is related to TNM stage, cervical lymphatic metastasis and infiltration degree, both of which may be involved in the occurrence and development of tumor.

18.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wpr-869889

RESUMO

This study was a single-center large-sample case-control study.Data of 1 106 elderly patients who underwent unilateral total hip arthroplasty from June 2013 to May 2019 were collected, including items such as patient′s baseline characteristics, comorbidities, perioperative medication, intraoperative blood pressure, and postoperative outcomes.Patients were divided into postoperative nausea and vomiting(PONV)group and non-PONV group according to whether nausea and vomiting occurred within 24 h after operation.Logistic regression analysis was used to determine the risk factors for PONV.The incidence of PONV was 11.03%.Female, intraoperative use of dezocine, and intraoperative hypotension(duration>3 min or cumulative time>6 min)are independent risk factors for PONV, while femoral neck fractures and intraoperative use of dexamethasone are protective factors.

19.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wpr-870424

RESUMO

Objective To summarize the brain protection application experiences of combined internal and external blood shunt technologies for the in-situ three-fenestration revascularization of aortic arch.Methods From Feb 2017 to Jun 2018,8 patients with aortic arch leisons were treated by the in-situ three-fenestration techniques,including 3 aortic dissection,2 aortic aneurysm,3 postoperative TEVAR patients.We adopt the method of internal and external blood shunt technologies for brain protection using the vascular sheath for fenestration combined with carotid shunt tube skills,and using TCD to monitor the blood flow of brain.Results All operations completed successfully,and TCD showed no significant cerebral ischemia when aortic stent was used to cover the three branches of the aorta.The mean time of brain protection was (17.62 ± 6.87) minutes.One patient developed transient cerebral ischemia after surgery,and another one developed cerebral infarction.Conclusions The brain protection strategy of internal bypass combined with external converter technology maintain the brain blood flow,while is simple and feasible,it cannot completely avoid neurological complications.

20.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wpr-755007

RESUMO

Acute radiation exposure usually causes severe dysfunction in various tissues of the organism, among which hematopoiesis, digestion, skin, cardiovascular and nervous system are most obviously affected, often leading to extensive apoptosis and acute radiation syndrome. Apoptosis inhibition or loss could increase proliferation of tumor cells through p53 and NF-κB pathways. Toll-like receptors ( TLRs) are a class of protein molecules involved in non-specific immunity. Up-regulation of the NF-κB pathway results in a significant increase in the radioresistance of cells. TLR4 has a basal cell radiation damage protection effect. Traditional TLR4 agonist lipopolysaccharide is limited in clinical application due to severe toxicity. Recently, some new TLRs agonists have been reported, which have protective effects against the lethal effects of ionizing radiation and lower toxic side effects. Among them, TLR2, TLR4, TLR5 and TLR9 play key roles in radiation protection, such as TLR2 receptor agonist bacterial lipoprotein (BLP), TLR4 receptor agonist heat-activated Salmonella typhimurium (HKST), TLR5 receptor agonism Bacterial flagellin and TLR9 receptor agonist. However, those different TLRs recognize specific components of the pathogen and thus initiate different downstream signaling pathways with different protective effects.

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