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1.
Article in Chinese | WPRIM | ID: wpr-941041

ABSTRACT

Trisomy 11 mosaicism is clinically rare, for which making diagnostic and treatment decisions can be challenging. In this study, we used noninvasive prenatal testing, chromosome karyotype analysis, chromosome microarray analysis, copy number variation sequencing and fluorescence in situ hybridization for detecting trisomy 11 mosaicism in two cases and provided them with genetic counseling. In one of the cases, the fetus with confined placental mosaicism trisomy 11 presented with severe growth restriction and a placental mosaic level of 44%, and pregnancy was terminated at 25+3 weeks of gestation. In the other case with true low-level fetal mosaicism of trisomy 11, the pregnancy continued after exclusion of the possibility of uniparental disomy and structural abnormalities and careful prenatal counseling. The newborn was followed up for more than one year, and no abnormality was found. Noninvasive prenatal testing is capable of detecting chromosomal mosaicism but may cause missed diagnosis of true fetal mosaicism. For cases with positive noninvasive prenatal testing but a normal karyotype of the fetus, care should be taken in prenatal counseling and pregnancy management.


Subject(s)
Female , Humans , Infant, Newborn , Pregnancy , Chromosome Disorders/diagnosis , DNA Copy Number Variations , Genetic Testing , In Situ Hybridization, Fluorescence , Mosaicism , Placenta , Prenatal Diagnosis , Trisomy/genetics
2.
Article in Chinese | WPRIM | ID: wpr-906297

ABSTRACT

Objective:To observe the difference in drying dampness between Scutellariae Radix and Atractylodis Rhizoma in model rats with spleen-stomach dampness-heat syndrome and clarify their property-efficacy relationship. Method:Sixty-four healthy male SD rats were randomized into the blank group, model group, high-, medium-, and low-dose Scutellariae Radix groups, as well as high-, medium-, and low-dose Atractylodis Rhizoma groups. The rats were exposed to high-fat and high-sugar diet and external dampness-heat environment for 20 days for inducing the spleen-stomach dampness-heat syndrome. The macroscopic manifestations of rats were observed and the morphological changes in stomach and colon were detected under a light microscope after hematoxylin-eosin (HE) staining, followed by the calculation of pathological scores. The serum tumor necrosis factor-<italic>α</italic> (TNF-<italic>α</italic>), interleukin-4 (IL-4), and interferon-<italic>γ</italic> (IFN-<italic>γ</italic>) levels were determined by enzyme-linked immunosorbent assay (ELISA). The protein and mRNA expression levels of aquaporin-4 (AQP4) in the gastric tissue were measured by Western blot and Real-time polymerase chain reaction (Real-time PCR), respectively. Result:Rats in the model group presented with the manifestations of dampness-heat syndrome. The inflammatory reaction in stomach and colon was obvious, and the pathological score was significantly increased (<italic>P</italic><0.01). The serum IFN-<italic>γ</italic>, IL-4, and TNF-<italic>α</italic> levels were elevated (<italic>P</italic><0.05), and so were the AQP4 protein and mRNA expression levels in the gastric tissue except that there was no statistical difference. The clinical symptoms of rats in the medication groups were alleviated. Scutellariae Radix significantly relieved the gastric and colonic inflammation in model rats. Atractylodis Rhizoma inhibited the colonic inflammation in model rats to a certain extent, but it had no obvious effect on gastric inflammation. The pathological score of each Scutellariae Radix group was decreased. In terms of the pathological score of gastric tissue, only the high-dose Scutellariae Radix produced a significant difference (<italic>P</italic><0.01), and the pathological scores of the three Atractylodis Rhizoma groups were not significantly different from that in the model group. As for the pathological score of colonic tissue, all the medication groups except for the low-dose Atractylodis Rhizoma group exhibited a significant difference in comparison with that of the model group (<italic>P</italic><0.01). Scutellariae Radix and Atractylodis Rhizoma at each dose reduced not only the serum IFN-<italic>γ</italic>, IL-4, and TNF-<italic>α</italic> levels (<italic>P</italic><0.05, <italic>P</italic><0.01), but also the AQP4 protein expression in gastric tissue of model rats (<italic>P</italic><0.01). The AQP4 mRNA expression in the gastric tissue of model rats declined in the high- and low-dose Scutellariae Radix groups, while that in the medium-dose Scutellariae Radix group and each Atractylodis Rhizoma group rose without statistical difference. Conclusion:Scutellariae Radix and Atractylodis Rhizoma display a certain property-efficacy relationship in drying dampness of rats with spleen-stomach dampness-heat syndrome. Specifically, the efficacy of drying dampness is related to their cold/heat property, and the resulting outcome of bitter-cold Scutellariae Radix is better than that of bitter-warm Atractylodis Rhizoma.

3.
Journal of Experimental Hematology ; (6): 1289-1294, 2021.
Article in Chinese | WPRIM | ID: wpr-888554

ABSTRACT

OBJECTIVE@#To investigate the effect of vitamin D3 to platelet activation by tumor cell culture medium.@*METHODS@#The peripheral blood platelets of BALB/c mice were isolated. The platelets were activated in 4T1 culture fluid for 24 h. The platelets were divided into 7 groups: control group, activation group, 1 nmol/L vitamin D3 group, 10 nmol/L vitamin D3 group, 50 nmol/L vitamin D3 group, 100 nmol/L vitamin D3 group, and positive drug (0.1 μmol/L eptifibatide) group. CCK-8 assay was used to detect the platelet proliferation at 24, 48 and 72 h. Flow cytometry was used to detect the expression of CD61 and CD62p and receptor for advanced glycation end products (RAGE) at 24, 48 and 72 h. ELISA was used to detect the level of platelet-endothelial cell adhesion molecule-1 (PECAM-1) at 24, 48 and 72 h.@*RESULTS@#The CD41@*CONCLUSION@#Vitamin D3 shows antiplatelet effect and can inhibit platelet proliferation and activation.


Subject(s)
Animals , Mice , Blood Platelets , Cell Culture Techniques , Cholecalciferol/pharmacology , Flow Cytometry , Mice, Inbred BALB C , P-Selectin , Platelet Activation
4.
Journal of Experimental Hematology ; (6): 1148-1155, 2021.
Article in Chinese | WPRIM | ID: wpr-888531

ABSTRACT

OBJECTIVE@#To investigate the types and laboratory characteristics of non-Hodgkin lymphoma(NHL) with bone marrow invasion as the first manifestation.@*METHODS@#81 non-Hodgkin lymphoma patients with bone marrow invasion as the first manifestation treated in our hospital from January 2010 to July 2019 were selected. The clinical features, blood routine, lactate dehydrogenase (LDH), EB virus results, bone marrow features, immunophenotyping, gene and genetic characteristics of all patients were analyzed retrospectivel.@*RESULTS@#Among 81 patients, 73 cases(90%) were B-cell lymphoma, 5 cases(6%) were T-cell lymphoma and 3 cases(4%) were NK/T-cell lymphoma, while the mantle cell lymphoma and diffuse large B-cell lymphoma were the highest, which accounted for 21%(17 cases) and 19.7%(16 cases), and lymphoma accounted for 8.6%(7 cases). There were 44 cases(54.3%) showed B symptoms, 65 cases (80.2%) showed abnormal blood routine. The MYD88 gene was detected in 5 of 17 cases. 25 cases of patients underwent chromosome examination, the result showed that 5 cases were t(8; 14) (q24; q32), 3 cases were complex karyotype and 17 cases were normal karyotype. 23 cases(23.4%) were EB virus positive, 42 cases(51.9%) were LDH increased. The proportion of bone marrow lymphoma cells was 1%-92%. Among them, 32 cases were diagnosed as lymphoma leukemia, and 6 cases of bone marrow lymphoma cells showed mass distribution similar to extramedullary tumor cells with bone marrow metastasis.@*CONCLUSION@#B-cell lymphoma is the predominant NHL with bone marrow invasion as the first manifestation, while mantle cell lymphoma and diffuse large B-cell lymphoma are the most common pathological types with blood routine abnormalities. Bone marrow lymphoma cells can also present clusters of bone marrow metastasis, different types of lymphoma cells can make directional diagnosis.


Subject(s)
Humans , Adult , Bone Marrow , Laboratories , Lymphoma, Large B-Cell, Diffuse , Lymphoma, Mantle-Cell , Lymphoma, Non-Hodgkin
5.
Acta Pharmaceutica Sinica B ; (6): 276-288, 2020.
Article in English | WPRIM | ID: wpr-787629

ABSTRACT

Psoriasis is characterized by abnormal proliferation of keratinocytes, as well as infiltration of immune cells into the dermis and epidermis, causing itchy, scaly and erythematous plaques of skin. The understanding of this chronic inflammatory skin disease remains unclear and all available treatments have their limitations currently. Here, we showed that IMMH002, a novel orally active S1P modulator, desensitized peripheral pathogenic lymphocytes to egress signal from secondary lymphoid organs and thymus. Using different psoriasis animal models, we demonstrated that IMMH002 could significantly relieve skin damage as revealed by PASI score and pathological injure evaluation. Mechanistically, IMMH002 regulated CD3 T lymphocytes re-distribution by inducing lymphocytes' homing, thus decreased T lymphocytes allocation in the peripheral blood and skin but increased in the thymus. Our results suggest that the novel S1P agonist, IMMH002, exert extraordinary capacity to rapidly modulate T lymphocytes distribution, representing a promising drug candidate for psoriasis treatment.

6.
Chinese Medical Journal ; (24): 2665-2673, 2020.
Article in English | WPRIM | ID: wpr-877883

ABSTRACT

BACKGROUND@#Psoriasis is a chronic inflammatory skin disease, affecting about 0.6% of the Chinese population. Many patients are not well controlled by conventional treatments, thus there is need for new treatment regimens. In this study, we assessed the efficacy and safety of secukinumab in Chinese patients with moderate to severe plaque psoriasis.@*METHODS@#This study was a 52-week, multicentre, randomized, double-blind, placebo-controlled, parallel-group, Phase 3 trial. A sub-population of study participants (≥18 years) of Chinese ethnicity were randomized to receive subcutaneous injections of 300 or 150 mg secukinumab, or placebo. The co-primary endpoints were psoriasis area severity index (PASI) 75 and Investigator's Global Assessment (IGA) 0/1 at Week 12.@*RESULTS@#A total of 441 Chinese patients were enrolled in this study. Co-primary outcomes were achieved; 300 and 150 mg secukinumab were superior to placebo as shown in the proportion of patients that achieved PASI 75 (97.7% and 87.2% vs. 3.7%, respectively; P < 0.001), and IGA 0/1 (82.3% and 69.7% vs. 2.7%; P < 0.001) at Week 12. Treatment efficacy was maintained until Week 52. There was no increase in overall adverse events with secukinumab relative to placebo throughout the 52-week period.@*CONCLUSION@#Secukinumab is highly effective and well tolerated in Chinese patients with moderate to severe plaque psoriasis.@*TRIAL REGISTRATION@#ClinicalTrials.gov, NCT03066609; https://clinicaltrials.gov/ct2/show/record/NCT03066609.


Subject(s)
Humans , Antibodies, Monoclonal/therapeutic use , Antibodies, Monoclonal, Humanized , China , Double-Blind Method , Psoriasis/drug therapy , Severity of Illness Index , Treatment Outcome
7.
Journal of Preventive Medicine ; (12): 1217-1219, 2020.
Article in Chinese | WPRIM | ID: wpr-875778

ABSTRACT

Objective@#To analyze the epidemiological characteristics of coronavirus disease 2019 ( COVID-19 ) clusters in Lishui, so as to provide basis for the prevention and control of COVID-19 clusters.@*Methods@#The data of COVID-19 clusters in Lishui from January 23 to March 29, 2020 were collected through China Disease Control and Prevention Information System-Public Health Emergency Information System, and analyzed time, space, scale, source of infection, exposure and transmission route by descriptive epidemiological method. @*Results@#There were 31 cases in 8 clusters ( about 4 cases per cluster ), with no death. The report time was bimodal, peaked first from January 20 to February 10 with 4 clusters imported from domestic and peaked second from March 1 to 29 with 4 clusters imported from overseas. Qingtian County reported 4 clusters, Liandu District, Yunhe County, Qingyuan County and Jingning County each reported 1 cluster. Thirteen cases were restaurant employees, accounting for 41.94%. The cases were mainly occurred in the condition that exposed in the same family ( 6 clusters ), in the same dinner and car ( 1 clusters ), and in the same party ( 1 clusters ). The exposure modes that caused more cases infected were through the same family (9 cases) and through the same dinner and car ( 6 cases ). There were 3 clusters with first-generation cases, 3 clusters with second-generation cases and 2 clusters with third-generation cases. The recurrence rate of the 8 clusters ranged from 1.49% to 7.69%, with a median of 3.47%. @*Conclusions@#The COVID-19 clusters in Lishui imported from domestic in the early stage and later from overseas. Most cases were reported from Qingtian County, were engaged in catering business, and exposed by living with families.

8.
Article in Chinese | WPRIM | ID: wpr-864552

ABSTRACT

Objective:To further explore the self-knowledge and real experience of hemophilia patients in childbearing age, and provide evidence for nursing workers to design and implement personalized effective intervention strategies.Methods:A semi-structured in-depth interview was conducted among 10 hemophilia patients of hemophilia clinic in our hospital with the purpose sampling method. The data were analyzed by Colaizzi 7-step analysis.Results:Three major themes were refined: emotional experience (role change, fertility anxiety, lack of self-confidence in interpersonal relationships); lack of knowledge; disease benefit.Conclusion:Patients with hemophilia have diverse and complex real psychological experiences during childbearing age. Medical staff develop targeted and personalized health education strategies for patients at this stage to better prevent and treat them and improve their quality of life. Population quality.

9.
Article in Chinese | WPRIM | ID: wpr-857514

ABSTRACT

Roflumilast, one of the second generation of phosphodiesterase-4 inhibitors, has been approved for the treatment of severe chronic obstructive pulmonary disease by the United States Food and Drug Administration since 2011. It has shown a variety of beneficial effects, including anti-inflammatory, anti-tumor, anti-alcoholic, and anti-diabetic profiles. Recent studies have demonstrated that roflumilast, like other PDE4 inhibitors, has neuroprotective and precognitive properties. It also has been shown to produce promising cognitive improvement in animals and humans. Therefore, roflumilast can be a potential drug for treatment of various degenerative diseases of the central nervous system, including Alzheimer disease and Parkinson disease. The major mechanism is the activation of cyclic AMP signaling and its downstream targeting molecules. All these are discussed and summarized in the current review.

10.
Acta Pharmaceutica Sinica ; (12): 806-812, 2020.
Article in Chinese | WPRIM | ID: wpr-821697

ABSTRACT

The alveolar capillary endothelial barrier is mainly composed of alveolar capillary endothelial cells and alveolar epithelial cells. The destruction of this barrier and the continuous infiltration of inflammatory cells have been considered to play an important role in the development of chronic obstructive pulmonary disease, acute lung injury, and idiopathic pulmonary fibrosis. Therefore, it is of great significance to understand the mechanism of alveolar capillary endothelial barrier regulation. Sphingosine 1-phosphate (S1P) is a bioactive sphingolipid metabolite produced by sphingosine kinase. A large number of studies have shown that S1P not only regulates immune cell transport, but also plays important roles in regulating cell apoptosis, vascular endothelial barrier, and alveolar epithelial barrier. S1P exerts different regulatory effects on alveolar capillary endothelial barrier by activating S1P1 and S1P3. Activation of S1P1 on the alveolar capillary endothelial cells by S1P mediates barrier protection, while the barrier can be broken when S1P3 is stimulated by S1P. S1P can also regulate alveolar epithelial barrier. By activating S1P3 on the alveolar epithelial cells, S1P leads to epithelial barrier damage, which makes interstitial proteins and body fluids infiltrate into alveolar space and causes pulmonary edema. Therefore, it may be a target for the treatment of lots of lung diseases by regulating the homeostasis of alveolar capillary endothelial barrier. This paper reviews the research advancement of S1P in alveolar capillary endothelial barrier regulation.

11.
Article in Chinese | WPRIM | ID: wpr-942169

ABSTRACT

OBJECTIVE@#To explore the valuable predictors for evaluating progression-free survival (PFS) in patients with lung adenocarcinoma, we analyzed the potential roles of standardized uptake value (SUV)-derived parameters from 18F-FDG PET/CT, combining with the gene mutation states of epidermal growth factor receptor (EGFR) and anaplastic lymphoma kinase (ALK), and other clinical characteristics.@*METHODS@#Data of 84 lung adenocarcinoma patients pre-treated, who underwent 18F-FDG PET/CT scans, EGFR gene mutations test, ALK rearrangement assay and other relative tests, were retrospectively collected. Then a series of clinical parameters including EGFR/ALK mutation status and SUV-derived features [maximum standardized uptake value (SUVmax), average of standardized uptake value (SUVmean), metabolic tumor volume (MTV), and total lesion glycolysis (TLG)] were evaluated. Best possible cutoff points for all measuring parameters were calculated using receiver operating characteristic curve (ROC) analysis. Survival analysis was performed using Cox proportional hazards model to determine the prognostic markers for progression-free survival (PFS). Survival curves were obtained through Log-rank test and Kaplan-Meier curve.@*RESULTS@#The median follow-up period was 31 months (24 to 58 months). It was found that SUVmax (≥3.01), SUVmean (≥2.25), MTV (≥25.41 cm3), and TLG (≥55.02) of the primary tumors were significantly associated with PFS in univariate Cox proportional hazards regression. Then regardless of age, gender, co-morbidity, EGFR/ALK mutation status, and treatment program, TLG (≥ 55.02, HR=4.965, 95%CI: 1.360-18.133), TNM stage (Ⅲ/Ⅳ, HR=7.811, 95%CI: 2.977-20.489), pro-gastrin releasing peptide (proGRP) (≥45.65 ng/L, HR=4.070, 95%CI: 1.442-11.487), tissue polypeptide antigen (TPA) (≥68.20 U/L, HR=6.996, 95%CI: 1.458-33.574), alkaline phosphatase (ALP) (≥82.50 IU/L, HR=4.160, 95%CI: 1.416-12.219) and ratio of activated partial thromboplastin time (aPTTR) (≥1.16: HR=4.58, 95%CI: 1.913-10.946) showed the independently relevant to PFS through multivariate Cox proportional hazards analysis. The EGFR mutant (P=0.343) and ALK rearrangement (P=0.608) were not significant either in survival analysis.@*CONCLUSION@#High SUV-derived parameters (SUVmax, SUVmean, MTV and TLG) might provide prognostic value to some extent. Especially, TLG, and other clinical features [TNM stage, proGRP, TPA, ALP, and aPTTR] could be independently and significantly associated with PFS of lung adenocarcinoma patients. However, EGFR/ALK gene status could not be effectively relevant to PFS in lung adenocarcinoma patients.


Subject(s)
Humans , Adenocarcinoma of Lung/genetics , Anaplastic Lymphoma Kinase/genetics , ErbB Receptors/genetics , Fluorodeoxyglucose F18 , Genes, erbB-1 , Lung Neoplasms/genetics , Mutation , Positron Emission Tomography Computed Tomography , Prognosis , Radiopharmaceuticals , Retrospective Studies , Tumor Burden
12.
Acta Pharmaceutica Sinica ; (12): 1875-1880, 2019.
Article in Chinese | WPRIM | ID: wpr-780325

ABSTRACT

Tumor immunotherapy is a critical field in the development of anticancer drugs. The research of stimulator of interferon genes (STING) agonist provides a new idea for immunotherapy. Innate immune response can effectively be induced by nucleic acids in mammalian cytoplasm. In recent years, a large number of studies have confirmed that the cGAS-cGAMP-STING signaling pathway plays a key role in cytoplasmic DNA recognition and immune defense activation. The dysfunction of cGAS-cGAMP-STING is closely related to the tumorigenesis, and is a potent target for drug development. In this study, based on THP-1 dual cells which are stably expressing cGAS-STING pathway and THP-1 KO-STING cells which are stably depleted STING, a screening method for STING agonists was established by detection of luciferase. Furthermore, the accuracy and sensitivity of the model were verified using positive compound, providing a simple, efficient and accurate screening platform for high-throughput screening of STING agonists.

13.
Article in Chinese | WPRIM | ID: wpr-773489

ABSTRACT

OBJECTIVE@#We propose a heartbeat-based end-to-end classification of arrhythmias to improve the classification performance for supraventricular ectopic beat (SVEB) and ventricular ectopic beat (VEB).@*METHODS@#The ECG signals were preprocessed by heartbeat segmentation and heartbeat alignment. An arrhythmia classifier was constructed based on convolutional neural network, and the proposed loss function was used to train the classifier.@*RESULTS@#The proposed algorithm was verified on MIT-BIH arrhythmia database. The AUC of the proposed loss function for SVEB and VEB reached 0.77 and 0.98, respectively. With the first 5 min segment as the local data, the diagnostic sensitivities for SVEB and VEB were 78.28% and 98.88%, respectively; when 0, 50, 100, and 150 samples were used as the local data, the diagnostic sensitivities for SVEB and VEB reached 82.25% and 93.23%, respectively.@*CONCLUSIONS@#The proposed method effectively reduces the negative impact of class-imbalance and improves the diagnostic sensitivities for SVEB and VEB, and thus provides a new solution for automatic arrhythmia classification.


Subject(s)
Humans , Algorithms , Arrhythmias, Cardiac , Classification , Diagnosis , Electrocardiography , Heart Rate , Neural Networks, Computer , Ventricular Premature Complexes , Classification , Diagnosis
14.
Article in Chinese | WPRIM | ID: wpr-797749

ABSTRACT

Objective@#Alport syndrome was an inherited kidney disease caused by the mutation of COL4A3, COL4A4, or COL4A5. Whole-exome sequencing was used to detect the mutations on these genes for the molecular diagnosis of Alport syndrome.@*Methods@#A 6-year-old girl found accidentally with microscopic hematuria at the age of 4. The clinical data and blood sample of the family including proband, parents, brothers, and sisters were collected. Whole exome sequencing was conducted using their genomic DNAs.@*Results@#A novel heterozygous frameshift mutation c.1826delC (p.Pro609Glnfs*44) was found in the exon 25 of the COL4A4 (NM_000092) in the proband, the father, and the sister, showing an autosomal dominant inheritance pattern of Alport syndrome. This mutation of COL4A4 was confirmed by mutation analysis, and the mutation of c.1826delC was verified by Sanger sequencing. No mutations on COL4A3 and COL4A5 were detected in this family. And the mother and brother are normal wide-type.@*Conclusions@#This novel mutation is a valuable addition to the current genetic profile of Alport syndrome, and provide us a better understanding of the disease. Whole-exome sequencing is a power tool to identify the novel mutations of inherited disease and contribute to the molecular diagnosis of disease.

15.
Chinese Journal of Hematology ; (12): 35-39, 2019.
Article in Chinese | WPRIM | ID: wpr-810392

ABSTRACT

Objective@#To evaluate the feasibility and potential value of comprehensive geriatric assessment (CGA) in elderly (≥60 years) patients with newly diagnosed acute myeloid leukemia (AML) in China.@*Methods@#The CGA results of 83 newly diagnosed AML (non-APL) patients from 16 hospitals in Beijing and Tianjin between March 2016 and December 2017 were prospectively collected and analyzed. The clinical data, treatment and follow-up information were also collected.@*Results@#Of 83 newly diagnosed elderly AML patients, 81 patients (97.6%) completed all designated CGA assessment. The median number of impaired scales of the CGA assessment in the studied population was 2(0-6). Sixteen patients (19.3%) showed no impairments according to the geriatric assessment scales implem ented by this study. The distributions of impaired scales were as follows: impairment in ADL, 55.4%; IADL impairment, 42.2%; MNA-SF impairment, 48.2%; cognitive impairment, 15.7%; GDS impairment, 31.7%; HCT-CI impairment, 19.5%, respectively. In patients with "good" ECOG (n=46), the proportion of impairment for each CGA scale ranged from 6.5% to 37.0% and 32 patients (68.9%) had at least one impaired CGA scale. Survival analysis showed that the number of impaired scales of the CGA was significantly correlated with median overall survival (P=0.050).@*Conclusions@#CGA was a tool with feasibility for the comprehensive evaluation in elderly AML patients in China. Combined with age and ECOG, CGA may be more comprehensive in assessing patients’ physical condition.

16.
Cancer Research and Clinic ; (6): 66-68, 2019.
Article in Chinese | WPRIM | ID: wpr-735183

ABSTRACT

Phosphohistone H3 (PHH3) is one of the five newly discovered nucleocardial histones. PHH3 with other histones constitute the main protein components in chromatin in eukaryotic. For it reached the maximum value in G2 phase and M phase with mitosis, so it was considered as a specific nuclear fission marker. At present, PHH3 has been proved to be very useful to determine the nuclear fission images of tumor cells, and to distinguish the nuclear fission images from apoptotic bodies and nuclear fragments. This paper reviews the research status of PHH3 in tumors.

17.
Article in Chinese | WPRIM | ID: wpr-756507

ABSTRACT

Objective Alport syndrome was an inherited kidney disease caused by the mutation of COL4A3,COL4A4, or COL4A5. Whole-exome sequencing was used to detect the mutations on these genes for the molecular diagnosis of Alport syndrome. Methods A 6-year-old girl found accidentally with microscopic hematuria at the age of 4. The clinical data and blood sample of the family including proband, parents, brothers, and sisters were collected. Whole exome sequencing was conducted using their genomic DNAs. Results A novel heterozygous frameshift mutation c.1826delC (p.Pro609Glnfs*44) was found in the exon 25 of the COL4A4(NM_000092) in the proband, the father, and the sister, showing an autosomal dominant inheritance pattern of Alport syndrome. This mutation of COL4A4 was confirmed by mutation analysis, and the mutation of c.1826delC was verified by Sanger sequencing. No mutations on COL4A3 and COL4A5 were detected in this family. And the mother and brother are normal wide-type. Conclusions This novel mutation is a valuable addition to the current genetic profile of Alport syndrome, and provide us a better understanding of the disease. Whole-exome sequencing is a power tool to identify the novel mutations of inherited disease and contribute to the molecular diagnosis of disease.

18.
Article in Chinese | WPRIM | ID: wpr-754464

ABSTRACT

Lymphoma is a group of heterogeneous hematological malignant tumors originating from lymph nodes or other lymphoid tissues, including Hodgkin's lymphoma and non-Hodgkin's lymphoma. Diffuse large B-cell lymphoma (DLBCL) is one of the most com-mon subtypes of non-Hodgkin's lymphoma (NHL) with obvious heterogeneity. Standard R-CHOP regimen (rituximab combined with cy-clophosphamide, adriamycin, vincristine and prednisone) can significantly improve the survival of more than 60% of patients. Howev-er, there are still about 30%-40% of patients with relapse or refractory disease, and the prognosis is very poor. How to prolong the sur-vival of relapsed/refractory DLBCL patients and improve their prognosis has become a research hotspot. With the continuous in-depth study of gene expression profiles and molecular mechanisms of drug resistance, new chemotherapy schemes and new drugs emerge, which brings new hope for individualized precise treatment of relapsed/refractory DLBCL. This article reviews the recent progress of targeted drugs in the treatment of relapsed/refractory DLBCL.

19.
Article in Chinese | WPRIM | ID: wpr-941937

ABSTRACT

OBJECTIVE@#To evaluate the diagnostic value of 18F-FDG PET/CT and tumor markers (CEA,CA19-9,CA24-2) in detection for recurrence and metastasis of postoperative colorectal moderately differentiated adenocarcinoma.@*METHODS@#Fifty-five patients were enrolled in this study. All of the patients were tested with serum CEA within 2 weeks when they underwent 18F-FDG PET/CT scan, and some patients were tested with serum CA19-9 and CA24-2 simultaneously. According to the pathology and clinical results of their follow-up, the sensitivity, specificity, positive predictive value, negative predictive value and accuracy of 18F-FDG PET/CT and tumor markers were calculated based on different divided groups, respectively.@*RESULTS@#According to the pathology and the results of their clinical follow-up, the sensitivity of 18F-FDG PET/CT, CEA, CA19-9, CA24-2 and the combination of those three tumor markers were 95.74%, 68.09%, 28.57%, 40.00% and 74.47%, respectively. The specificity of 18F-FDG PET/CT, CEA, CA19-9, CA24-2 and the combination of those three tumor markers were 75.00%, 50.00%, 66.67%, 71.43% and 50.00%, respectively. The positive predictive valueof 18F-FDG PET/CT, CEA, CA19-9, CA24-2 and the combination of those three tumor markers were 95.74%, 88.89%, 85.71%, 88.89% and 89.74%, respectively. The negative predictive value of 18F-FDG PET/CT, CEA, CA19-9, CA24-2 and the combination of those three tumor markers were 75.00%, 26.67%, 11.42%, 17.24%, 25.00%, respectively. The accuracy of 18F-FDG PET/CT, CEA, CA19-9, CA24-2 and the combination of those three tumor markers were 92.73%, 65.47%, 32.65%, 44.68% and 70.91%, respectively. There were 2 cases of false positive and 2 cases of false negative in 18F-FDG PET/CT.@*CONCLUSION@#18F-FDG PET/CT has high value in detecting recurrence and metastasis of postoperative colorectal carcinoma. Tumor markers have the positive value to imply the recurrence and metastasis of postoperative colorectal carcinoma and are useful to indicate when to perform the 18F-FDG PET/CT. The combination of tumor markers could improve the diagnostic efficiency to some extent.


Subject(s)
Humans , Adenocarcinoma/diagnosis , Biomarkers, Tumor , CA-19-9 Antigen , Carcinoembryonic Antigen , Colorectal Neoplasms/diagnosis , Fluorodeoxyglucose F18 , Neoplasm Recurrence, Local , Positron Emission Tomography Computed Tomography , Positron-Emission Tomography , Recurrence
20.
Article in Chinese | WPRIM | ID: wpr-697370

ABSTRACT

Objective To explore the real experience during treatment of patients with multiple myeloma, so as to provide evidences for clinical nursing staff to implement targeted nursing measures and to carry out research on nursing staff of high evidence level. Methods Using phenomenological methods, nine cases of patients with multiple myeloma conducted semi-structured and in-depth interviews and then using Colaizzi 7-step for analysis. Results Three major topics were extracted: poor physiological experience (feeling abnormal, numbness, pain, urinary incontinence), positive response (family support, Increased medical standards, self-regulation), self-perceived burden (economic stress, short cycle of relapse, psychological burden). Conclusion Treatment of multiple myeloma have many adverse reactions, and patients bear too much psychological burden. Medical staff need to be evaluated in a timely manner, strengthen symptom management, provide comprehensive information support, analysis of patient self-perception burden causes, propose targeted interventions, and build continuation care system to improve patient treatment experience.

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