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1.
Chinese Journal of Medical Genetics ; (6): 52-58, 2024.
Artigo em Chinês | WPRIM | ID: wpr-1009353

RESUMO

OBJECTIVE@#To develop a genotyping method for the Junior blood type and report on a rare blood type with Jr(a-).@*METHODS@#Healthy O-type RhD+ volunteer donors of the Shenzhen Blood Center from January to May 2021 (n = 1 568) and a pedigree with difficult cross-matching (n = 3) were selected as the study subjects. Serological methods were used for proband's blood type identification, unexpected antibody identification, and antibody titer determination. Polymerase chain reaction-sequence specific primer (PCR-SSP) method was used for typing the proband's RhD gene. ABCG2 gene coding region sequencing and a PCR-SSP genotyping method were established for determining the genotypes of the proband and his family members and screening of Jra antigen-negative rare blood type among the 1 568 blood donors.@*RESULTS@#The proband's ABO and RhD blood types were respectively determined as B and partial D (RHDDVI.3/RHD01N.01), Junior blood type Jra antigen was negative, and plasma had contained anti-D and anti-Jra. Sequencing of the ABCG2 gene revealed that the proband's genotype was ABGG201N.01/ABGG201N.01 [homozygous c.376C>T (p.Gln126X) variants], which is the most common Jr(a-) blood type allele in the Asian population. Screening of the voluntary blood donors has detected no Jr(a-) rare blood type. Statistical analysis of the heterozygotes suggested that the allelic frequency for ABCG2*01N.01 (c.376T) was 0.45%, and the frequency of Jr(a-) rare blood type with this molecular background was about 0.2‰.@*CONCLUSION@#A very rare case of partial DVI.3 type and Jr(a-) rare blood type has been identified. And a method for identifying the Junior blood type through sequencing the coding regions of the ABCG2 gene and PCR-SSP has been established.


Assuntos
Humanos , Antígenos de Grupos Sanguíneos/genética , Genótipo , Técnicas de Genotipagem , Heterozigoto , Alelos , Doadores de Sangue , Sistema do Grupo Sanguíneo Rh-Hr/genética
2.
Shanghai Journal of Preventive Medicine ; (12): 98-103, 2024.
Artigo em Chinês | WPRIM | ID: wpr-1012662

RESUMO

ObjectiveTo elucidate the principles and methods of the Bayesian probabilistic linkage model, and to demonstrate the effect of applying the model in linking birth and death data. MethodsThrough the Shanghai birth and death registration system, data of 199 025 infants born in 2017 and 1 512 infants who died in 2017 and 2018 were collected. After cleaning the data, the data were divided into monthly blocks and fully linked. The Jaro-Winkler algorithm and Euclidean distance were employed to measure the similarity of fields for matching. A Bayesian probabilistic linkage model was constructed and the linking effect was evaluated using a confusion matrix. ResultsUsing the Bayesian probabilistic linkage model, the birth and death data of infants were effectively linked, revealing that 36.71% of infants who died in Shanghai were born outside the city, and the probability of infant death was 2.6‰. The confusion matrix of the test set showed a recall rate of 0.86, precision of 0.76, and an F-score of 0.81. ConclusionThe practical application of Bayesian probabilistic linkage demonstrates a good model performance, enabling the establishment of birth-death cohorts that more accurately reflect the true levels of infant mortality. Utilizing this technique to integrate data from different departments can effectively improve research efficiency in the field of public health.

3.
China Journal of Chinese Materia Medica ; (24): 1962-1975, 2023.
Artigo em Chinês | WPRIM | ID: wpr-981416

RESUMO

In this study, an overview of systematic reviews/Meta-analysis(SR/MA) of Chinese herbal injections for sepsis was performed to provide references for clinical practice and promote the quality improvement of clinical evidence. Eight Chinese and English databases such as CNKI, Medline, and EMbase were electronically searched for SR/MA of Chinese herbal injections for sepsis from database inception to June 2022. AMSTAR 2, PRISMA 2020, and GRADE system, combined with Recommendations for Clinical Evidence Grading on Traditional Chinese Medicine Based on Evidence Body, were applied to evaluate the methodological quality, reporting quality, and evidence quality of the included articles. Twenty-seven articles of SR/MA were included, containing four Chinese herbal injections(Xuebijing Injection, Shenfu Injection, Shenmai Injection, and Shengmai Injection). AMSTAR 2 checklist showed that the methodological quality of the SR/MA ranged from moderate to very low. Item 2(prior study design) was the critical item with poor scores, and the non-critical items with poor scores were items 3(explain the selection of the study designs), items 10(report on the sources of funding), and items 16(conflicts of interest stated). In terms of PRISMA 2020, items in eight topics with complete reporting of missing>50%, including search strategy, certainty assessment, results of syntheses, certainty of evidence, registration and protocol, support, competing interests, availability of data, code and other materials. The included SR/MA involved 30 outcome indicators. Evidence quality of mortality, APACHE Ⅱ, and safety, the top three outcome indicators, was evaluated, and all of them were graded as the medium level. The lack of random allocation sequence, allocation concealment mechanism, blinding, and trial sample size was the main reason for the reduction of the evidence level. The available evidence shows that Chinese herbal injections can serve as an effective and safe adjunctive treatment for sepsis, which can reduce mortality, inhibit inflammation, improve coagulation function, and regulate immune function, tissue perfusion, and oxygenation in patients with sepsis. However, the quality of SR/MA was suboptimal, and more high-quality SR/MA is needed to provide evidence to support the efficacy and safety of Chinese herbal injections in the treatment of sepsis.


Assuntos
Humanos , Injeções , Medicina Tradicional Chinesa , Projetos de Pesquisa , Sepse/tratamento farmacológico
4.
Shanghai Journal of Preventive Medicine ; (12): 599-603, 2023.
Artigo em Chinês | WPRIM | ID: wpr-979922

RESUMO

With the rapid development of aging around the world, the incidence and prevalence of age-related dementia have increased significantly, leading to a huge burden on patients, families and society. So far, there are no drugs that can completely reverse degeneration of the nervous system. The core pathological mechanisms of dementia are not clear, and the occurrence and progression of degenerative diseases in the nervous system appears to be only rely on the prevention through lifestyle interventions. Among lifestyle interventions, a large amount of laboratory evidence and a small amount of epidemiological evidence suggest that time restricted feeding have excellent effects on preventing the occurrence and progression of degenerative diseases in the nervous system. However, due to the lack of evidence in human population, the application of time restricted feeding lacks scientific basis. By synthesizing the existing evidence, this review discussed the pathway network of time restricted feeding that antagonizes the nervous system degradation, suggesting that future studies should focus on population evidence and the combined effects of multiple effect pathways.

5.
Journal of Experimental Hematology ; (6): 247-253, 2023.
Artigo em Chinês | WPRIM | ID: wpr-971132

RESUMO

OBJECTIVE@#To investigate the changes and roles of reactive oxygen species (ROS) and nuclear factor erythroid 2-related factor 2 (Nrf2) related antioxidases during erythroid development.@*METHODS@#Flow cytometry was used to detect the sensibility of peripheral red blood cells of wild-type mice to a strong oxidant hydrogen peroxide (H2O2). Erythroid cells from different developmental stages in bone marrow (BM) were obtained using fluorescence-activated cell sorter and the ROS levels were detected by flow cytometry. RT-qPCR was used to detect the changes of expression levels of Nrf2 and related antioxidases in erythroid cells from different developmental stages in BM. The ROS levels of the peripheral blood and BM nucleated erythrocytes in Nrf2 knockout mice were further examined. The expression level of Nrf2 in erythroid precursors isolated from 14.5 d embryonic liver of wild-type mice during differentiation and culture in vitro was detected.@*RESULTS@#In the peripheral blood of wild-type mice, the ROS level of reticulocytes and mature erythrocytes treated with H2O2 increased about 4 times and 7 times, respectively (P<0.01). In BM erythrocytes, the ROS level gradually decreased as the cells matured (r=0.85), while the expression level of Nrf2 and its related anti-oxidative genes increased (r=0.99). The ROS levels in peripheral blood erythrocytes and BM nucleated erythrocytes of Nrf2 knockout mice were significantly increased compared with wild-type mice (P<0.01). The expression of Nrf2 increased during the early erythroid development after embryonic liver cell sorting (P<0.01).@*CONCLUSION@#The expression levels of Nrf2 and its related factors vary during erythropoiesis. Nrf2 at physiological level plays an important antioxidant role during the erythroid development.


Assuntos
Animais , Camundongos , Peróxido de Hidrogênio , Camundongos Knockout , Fator 2 Relacionado a NF-E2/metabolismo , Estresse Oxidativo , Espécies Reativas de Oxigênio/metabolismo
6.
Asian Journal of Andrology ; (6): 179-183, 2023.
Artigo em Inglês | WPRIM | ID: wpr-971024

RESUMO

Management and treatment of terminal metastatic castration-resistant prostate cancer (mCRPC) remains heavily debated. We sought to investigate the efficacy of programmed cell death 1 (PD-1) inhibitor plus anlotinib as a potential solution for terminal mCRPC and further evaluate the association of genomic characteristics with efficacy outcomes. We conducted a retrospective real-world study of 25 mCRPC patients who received PD-1 inhibitor plus anlotinib after the progression to standard treatments. The clinical information was extracted from the electronic medical records and 22 patients had targeted circulating tumor DNA (ctDNA) next-generation sequencing. Statistical analysis showed that 6 (24.0%) patients experienced prostate-specific antigen (PSA) response and 11 (44.0%) patients experienced PSA reduction. The relationship between ctDNA findings and outcomes was also analyzed. DNA-damage repair (DDR) pathways and homologous recombination repair (HRR) pathway defects indicated a comparatively longer PSA-progression-free survival (PSA-PFS; 2.5 months vs 1.2 months, P = 0.027; 3.3 months vs 1.2 months, P = 0.017; respectively). This study introduces the PD-1 inhibitor plus anlotinib as a late-line therapeutic strategy for terminal mCRPC. PD-1 inhibitor plus anlotinib may be a new treatment choice for terminal mCRPC patients with DDR or HRR pathway defects and requires further investigation.


Assuntos
Masculino , Humanos , Antígeno Prostático Específico , Resultado do Tratamento , Neoplasias de Próstata Resistentes à Castração/tratamento farmacológico , Inibidores de Checkpoint Imunológico/uso terapêutico , Estudos Retrospectivos
7.
Chinese Journal of Pediatrics ; (12): 642-647, 2023.
Artigo em Chinês | WPRIM | ID: wpr-985923

RESUMO

Objective: To investigate the clinical features and genetic features of combined oxidative phosphorylation deficiency 32 (COXPD32) caused by MRPS34 gene variation. Methods: The clinical data and genetic test of a child with COXPD32 hospitalized in the Department of Neurology, Children's Hospital, Capital Institute of Pediatrics in March 2021 were extracted and analyzed. A literature search was implemented using Wanfang, China biology medicine disc, China national knowledge infrastructure, ClinVar, human gene mutation database (HGMD) and Pubmed databases with the key words "MRPS34" "MRPS34 gene" and "combined oxidative phosphorylation deficiency 32" (up to February 2023). Clinical and genetic features of COXPD32 were summarized. Results: A boy aged 1 year and 9 months was admitted due to developmental delay. He showed mental and motor retardation, and was below the 3rd percentile for height, weight, and head circumference of children of the same age and gender. He had poor eye contact, esotropia, flat nasal bridge, limbs hypotonia, holding instability and tremors. In addition, Grade Ⅲ/6 systolic murmur were heard at left sternal border. Arterial blood gases suggested that severe metabolic acidosis with lactic acidosis. Brain magnetic resonance imaging (MRI) showed multiple symmetrical abnormal signals in the bilateral thalamus, midbrain, pons and medulla oblongata. Echocardiography showed atrial septal defect. Genetic testing identified the patient as a compound heterozygous variation of MRPS34 gene, c.580C>T (p.Gln194Ter) and c.94C>T (p.Gln32Ter), with c.580C>T being the first report and a diagnosis of COXPD32. His parents carried a heterozygous variant, respectively. The child improved after treatment with energy support, acidosis correction, and "cocktail" therapy (vitaminB1, vitaminB2, vitaminB6, vitaminC and coenzyme Q10). A total of 8 cases with COXPD32 were collected through 2 English literature reviews and this study. Among the 8 patients, 7 cases had onset during infancy and 1 was unknown, all had developmental delay or regression, 7 cases had feeding difficulty or dysphagia, followed by dystonia, lactic acidosis, ocular symptoms, microcephaly, constipation and dysmorphic facies(mild coarsening of facial features, small forehead, anterior hairline extending onto forehead,high and narrow palate, thick gums, short columella, and synophrys), 2 cases died of respiratory and circulatory failure, and 6 were still alive at the time of reporting, with an age range of 2 to 34 years. Blood and (or) cerebrospinal fluid lactate were elevated in all 8 patients. MRI in 7 cases manifested symmetrical abnormal signals in the brainstem, thalamus, and (or) basal ganglia. Urine organic acid test were all normal but 1 patient had alanine elevation. Five patients underwent respiratory chain enzyme activity testing, and all had varying degrees of enzyme activity reduction. Six variants were identified, 6 patients were homozygous variants, with c.322-10G>A was present in 4 patients from 2 families and 2 compound heterozygous variants. Conclusions: The clinical phenotype of COXPD32 is highly heterogenous and the severity of the disease varies from development delay, feeding difficulty, dystonia, high lactic acid, ocular symptoms and reduced mitochondrial respiratory chain enzyme activity in mild cases, which may survive into adulthood, to rapid death due to respiratory and circulatory failure in severe cases. COXPD32 needs to be considered in cases of unexplained acidosis, hyperlactatemia, feeding difficulties, development delay or regression, ocular symptoms, respiratory and circulatory failure, and symmetrical abnormal signals in the brainstem, thalamus, and (or) basal ganglia, and genetic testing can clarify the diagnosis.


Assuntos
Humanos , Masculino , Lactente , Acidose Láctica , Encéfalo , Tronco Encefálico , Distonia , Distúrbios Distônicos , Doenças Mitocondriais
8.
Chinese Journal of Epidemiology ; (12): 862-867, 2023.
Artigo em Chinês | WPRIM | ID: wpr-985605

RESUMO

Objective: To investigate the associations between the numbers of healthy lifestyles and overweight/obesity and abdominal obesity in adult twins in Shanghai. Methods: Based on the Shanghai Twin Registry System Phase Ⅱ survey data in 2017-2018, a case-control study was conducted to analyze the association between healthy lifestyles and obesity and further adjusted for confounders by a co-twin control study. Results: A total of 7 864 adult twins (3 932 pairs) were included. In the co-twin case-control analysis for monozygotic twins, compared with participants with 0 to 2 healthy lifestyles, those with 3 and 4 to 5 healthy lifestyles had a 49% (OR=0.51, 95%CI: 0.28-0.93) and 70% (OR=0.30, 95%CI: 0.13-0.69) lower risk of overweight/obesity, respectively, and a 17% (OR=0.83, 95%CI: 0.44-1.57) and 66% (OR=0.34, 95%CI: 0.14-0.80) lower risk of abdominal obesity, respectively. For each additional healthy lifestyle, the risk of developing overweight/obesity was reduced by 41% (OR=0.59, 95%CI: 0.42-0.85), and the risk of developing abdominal obesity was reduced by 37% (OR=0.63, 95%CI: 0.44-0.90). Conclusion: An increasing number of healthy lifestyles was associated with a marked decreased risk for both overweight/obesity and abdominal obesity.


Assuntos
Adulto , Humanos , Estudos de Casos e Controles , China/epidemiologia , Estilo de Vida Saudável , Obesidade/epidemiologia , Obesidade Abdominal/epidemiologia , Sobrepeso/epidemiologia , Gêmeos Monozigóticos
9.
Chinese Journal of Epidemiology ; (12): 544-551, 2023.
Artigo em Chinês | WPRIM | ID: wpr-985525

RESUMO

Objective: To describe the distribution characteristics of hyperlipidemia in adult twins in the Chinese National Twin Registry (CNTR) and explore the effect of genetic and environmental factors on hyperlipidemia. Methods: Twins recruited from the CNTR in 11 project areas across China were included in the study. A total of 69 130 (34 565 pairs) of adult twins with complete information on hyperlipidemia were selected for analysis. The random effect model was used to characterize the population and regional distribution of hyperlipidemia among twins. The concordance rates of hyperlipidemia were calculated in monozygotic twins (MZ) and dizygotic twins (DZ), respectively, to estimate the heritability. Results: The age of all participants was (34.2±12.4) years. This study's prevalence of hyperlipidemia was 1.3% (895/69 130). Twin pairs who were men, older, living in urban areas, married,had junior college degree or above, overweight, obese, insufficient physical activity, current smokers, ex-smokers, current drinkers, and ex-drinkers had a higher prevalence of hyperlipidemia (P<0.05). In within-pair analysis, the concordance rate of hyperlipidemia was 29.1% (118/405) in MZ and 18.1% (57/315) in DZ, and the difference was statistically significant (P<0.05). Stratified by gender, age, and region, the concordance rate of hyperlipidemia in MZ was still higher than that in DZ. Further, in within-same-sex twin pair analyses, the heritability of hyperlipidemia was 13.04% (95%CI: 2.61%-23.47%) in the northern group and 18.59% (95%CI: 4.43%-32.74%) in the female group, respectively. Conclusions: Adult twins were included in this study and were found to have a lower prevalence of hyperlipidemia than in the general population study, with population and regional differences. Genetic factors influence hyperlipidemia, but the genetic effect may vary with gender and area.


Assuntos
Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem , China/epidemiologia , Doenças em Gêmeos/genética , Hiperlipidemias/genética , Doenças Metabólicas , Gêmeos Dizigóticos , Gêmeos Monozigóticos/genética
10.
Chinese Journal of Epidemiology ; (12): 536-543, 2023.
Artigo em Chinês | WPRIM | ID: wpr-985524

RESUMO

Objective: To describe the distribution characteristics of hypertension among adult twins in the Chinese National Twin Registry (CNTR) and to provide clues for exploring the role of genetic and environmental factors on hypertension. Methods: A total of 69 220 (34 610 pairs) of twins aged 18 and above with hypertension information were selected from CNTR registered from 2010 to 2018. Random effect models were used to describe the population and regional distribution of hypertension in twins. To estimate the heritability, the concordance rates of hypertension were calculated and compared between monozygotic twins (MZ) and dizygotic twins (DZ). Results: The age of all participants was (34.1±12.4) years. The overall self-reported prevalence of hypertension was 3.8%(2 610/69 220). Twin pairs who were older, living in urban areas, married, overweight or obese, current smokers or ex-smokers, and current drinkers or abstainers had a higher self-reported prevalence of hypertension (P<0.05). Analysis within the same-sex twin pairs found that the concordance rate of hypertension was 43.2% in MZ and 27.0% in DZ, and the difference was statistically significant (P<0.001). The heritability of hypertension was 22.1% (95%CI: 16.3%- 28.0%). Stratified by gender, age, and region, the concordance rate of hypertension in MZ was still higher than that in DZ. The heritability of hypertension was higher in female participants. Conclusions: There were differences in the distribution of hypertension among twins with different demographic and regional characteristics. It is indicated that genetic factors play a crucial role in hypertension in different genders, ages, and regions, while the magnitude of genetic effects may vary.


Assuntos
Adulto , Feminino , Humanos , Masculino , Consumo de Bebidas Alcoólicas , Doenças em Gêmeos/genética , Hipertensão/genética , Gêmeos Dizigóticos/genética , Gêmeos Monozigóticos/genética
11.
Journal of Experimental Hematology ; (6): 1866-1871, 2023.
Artigo em Chinês | WPRIM | ID: wpr-1010051

RESUMO

OBJECTIVE@#To explore the high-risk clinical factors of early death in patients with secondary hemophagocytic lymphohistiocytosis (sHLH), and further identify the clinical factors related to the rapid progression of sHLH in the short term.@*METHODS@#The clinical manifestations, laboratory examination and prognosis of sHLH patients were retrospectively analyzed. Continuous variables were grouped by median, univariate and multivariate Cox regression analysis and Kaplan-Meier survival curve were used to explore the risk factors affecting early death of sHLH. Then, a nomogram model was established with independent risk factors, Bootstrap resampling method was used for verification, and consistency index (C-index) and calibration curve were used to detect the prediction accuracy.@*RESULTS@#A total of 126 sHLH patients were enrolled, with a median age of 48.5(16-88) years, including 74 males and 52 females. Fifty-five patients (43.6%) died within 30 days, including 39 males and 16 females. Univariate regression analysis showed that lymphocyte count <0.45×109/L, platelet count (PLT) <39.5×109/L, prothrombin time (PT)≥13.3 s, activated partial thromboplastin time (APTT)≥39.7 s, albumin (ALB) <25.9 g/L, lactate dehydrogenase (LDH)≥811 U/L, creatinine (Cr) ≥67 μmol/L and procalcitonin (PCT)≥0.61 ng/ml were risk factors for death within 30 days in sHLH patients. Multivariate regression analysis showed that lymphocyte count <0.45×109/L, APTT≥39.7 s and ALB <25.9 g/L were independent risk factors for death within 30 days in sHLH patients. A nomogram model was established based on the above three risk factors, its C-index was 0.683, and the calibration chart showed good agreement between the observed and predicted values of sHLH.@*CONCLUSIONS@#Lymphopenia, prolonged APTT, and hypoalbuminemia are risk factors for early death of sHLH patients. Early identification and positive intervention are expected to reduce early mortality in sHLH patients. The nomogram model based on the above risk factors provides a method for clinicians to evaluate sHLH.


Assuntos
Masculino , Feminino , Humanos , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Linfo-Histiocitose Hemofagocítica/complicações , Estudos Retrospectivos , Prognóstico , Fatores de Risco , Tempo de Tromboplastina Parcial , Albuminas
12.
Journal of Experimental Hematology ; (6): 1150-1154, 2023.
Artigo em Chinês | WPRIM | ID: wpr-1009972

RESUMO

OBJECTIVE@#To explore the genetic mutation mechanism of a rare Rhesus D variant individual.@*METHODS@#Regular serological assay was used for determination of Rh type for the sample. Indirect anti-human globulin test (IAT) was used to confirm the RhD antigen and screen the antibodies. D-screen reagent was used to analyze the RhD epitopes of the sample. RHD genotype and RHD zygosity testing of the sample were detected by palymerase chain reaction with sequence-specific primers (PCR-SSP). The full length coding region of RHD gene was sequenced. RHD mRNA was detected using reverse transcription polymerase chain reaction (RT-PCR). The PCR products were cloned and sequenced.@*RESULTS@#The RhD blood group of the sample was determined as weak D, and the Rh phenotype was CcDEe. The antibody screening was negative. The sample tested with all monoclonal anti-Ds in D-screen showed the D epitope profiles as partial D types. The analysis of RHD gene sequence indicated that the individual with RHD c.845G/A and RHD c.1227G/A base heterozygosis. Three kinds of alternative splicing isoforms were obtained by TA cloning and sequencing.@*CONCLUSION@#The object has RHD c.845G/A and RHD c.1227G/A mutation. This heterozygous mutation is responsible for the low expression of RhD antigen on the red blood cells of the sample.


Assuntos
Humanos , Alelos , Antígenos de Grupos Sanguíneos , Genótipo , Mutação , Fenótipo , Reação em Cadeia da Polimerase , Sistema do Grupo Sanguíneo Rh-Hr/genética
13.
Frontiers of Medicine ; (4): 240-262, 2023.
Artigo em Inglês | WPRIM | ID: wpr-982569

RESUMO

Detailed characterizations of genomic alterations have not identified subtype-specific vulnerabilities in adult gliomas. Mapping gliomas into developmental programs may uncover new vulnerabilities that are not strictly related to genomic alterations. After identifying conserved gene modules co-expressed with EGFR or PDGFRA (EM or PM), we recently proposed an EM/PM classification scheme for adult gliomas in a histological subtype- and grade-independent manner. By using cohorts of bulk samples, paired primary and recurrent samples, multi-region samples from the same glioma, single-cell RNA-seq samples, and clinical samples, we here demonstrate the temporal and spatial stability of the EM and PM subtypes. The EM and PM subtypes, which progress in a subtype-specific mode, are robustly maintained in paired longitudinal samples. Elevated activities of cell proliferation, genomic instability and microenvironment, rather than subtype switching, mark recurrent gliomas. Within individual gliomas, the EM/PM subtype was preserved across regions and single cells. Malignant cells in the EM and PM gliomas were correlated to neural stem cell and oligodendrocyte progenitor cell compartment, respectively. Thus, while genetic makeup may change during progression and/or within different tumor areas, adult gliomas evolve within a neurodevelopmental framework of the EM and PM molecular subtypes. The dysregulated developmental pathways embedded in these molecular subtypes may contain subtype-specific vulnerabilities.


Assuntos
Humanos , Neoplasias Encefálicas/patologia , Recidiva Local de Neoplasia/metabolismo , Glioma/patologia , Células-Tronco Neurais/patologia , Células Precursoras de Oligodendrócitos/patologia , Microambiente Tumoral
14.
Chinese Journal of Experimental Traditional Medical Formulae ; (24): 47-55, 2023.
Artigo em Chinês | WPRIM | ID: wpr-997656

RESUMO

ObjectiveTo establish and evaluate a chronic obstructive pulmonary disease (COPD) model with lung-spleen qi deficiency. MethodA rat model mimicking COPD with lung-spleen qi deficiency was established by the combination of cigarette smoking and intratracheal instillation of lipopolysaccharide (LPS) along with gavage of Sennae Folium infusion. Forty male SPF-grade SD rats were randomly assigned to blank, model, and low- (L-FXY), medium- (M-FXY), and high-dose (H-FXY) Sennae Folium infusion groups. Other groups except the blank group were exposed to daily cigarette smoke, with LPS administrated via intratracheal instillation on the 1st and 14th days. On the 28th day of modeling, the L-FXY, M-FXY, and H-FXY groups were administrated with Sennae Folium infusion at 5, 10, and 20 g·kg-1, respectively, and at 4 ℃ for three weeks. The modeling lasted for 49 days. The general conditions (body mass, food intake, fecal water content, and anal temperature) and behaviors (grip strength test and tail suspension test) of rats in different groups were examined. The lung function, lung histopathology, D-xylose, amylase, and gastrin levels in the serum, interleukin(IL)-1β and IL-6 levels in the alveolar lavage fluid, levels of T-lymphocyte subsets (CD4+, CD8+, and CD4+/CD8+) in the peripheral blood, and thymus and spleen indices were measured. ResultTwo rats died in the H-FXY group. Compared with the blank group, both the M-FXY and H-FXY groups exhibited reduced body mass and food intake (P<0.01) and increased fecal water content (P<0.01). The anal temperature in the H-FXY group was lower than that in the blank group (P<0.01). The grip strength decreased in the modeling groups compared with the blank group (P<0.01), and the duration of immobility in the tail suspension test increased in the M-FXY and H-FXY groups (P<0.05, P<0.01). Compared with the blank group, the modeling groups showed reduced 0.3 second forced expiratory volume (FEV0.3), FEV0.3/forced vital capacity (FVC)(P<0.01), thickening of bronchial walls, proliferation of goblet cells, and the presence of emphysematous changes. In terms of gastrointestinal function, the M-FXY and H-FXY groups had lower levels of D-xylose, gastrin, and α-amylase than the blank group (P<0.01). Regarding the immune and inflammatory indices, the M-FXY and H-FXY groups showed lower thymus and spleen indices than the blank group (P<0.01). Compared with the blank group, the modeling groups presented lowered CD4+ level (P<0.01) and CD4+/CD8+ ratio (P<0.05, P<0.01) in the peripheral blood and elevated levels of IL-1β and IL-6 in the alveolar lavage fluid (P<0.01) than the blank group. ConclusionA model of COPD with lung-spleen Qi deficiency was established through the combination of daily cigarette smoke, intratracheal instillation with LPS, and gavage of Sennae Folium infusion. The comprehensive evaluation results suggested medium-dose (10 g·kg-1) Sennae Folium infusion for gavage during the modeling of COPD with lung-spleen Qi deficiency.

15.
China Occupational Medicine ; (6): 185-188, 2023.
Artigo em Chinês | WPRIM | ID: wpr-996546

RESUMO

Objective: To establish a solvent desorption-gas chromatography method for the determination of 1,1,2,2-tetrachloroethane and 1,1,1,2-tetrachloroethane in workplace air. Methods: The 1,1,2,2-tetrachloroethane and 1,1,1,2-tetrachloroethane in workplace air were collected using activated carbon tubes, desorbed with carbon disulfide, and separated and detected by gas chromatography. The quantifications were based on standard curves. Results: The linear ranges of 1,1,2,2-tetrachloroethane and 1,1,1,2-tetrachloroethane were 0.98-395.50 and 0.87-395.50 mg/L, respectively, with the correlation coefficient of 0.999 95. The detection limits were 0.29 and 0.26 mg/L, respectively. The average of desorption efficiency was 92.04%-104.67%. The within- and between-run relative standard deviations were 1.42%-2.09% and 1.63%-6.09%, respectively. The sampling efficiency was more than 98.00%. The samples could be stored at room temperature for at least 14 days. Conclusion: This method can be used in detection of 1,1,2,2-tetrachloroethane and 1,1,1,2-tetrachloroethane in workplace air.

16.
Chinese Journal of General Surgery ; (12): 161-166, 2023.
Artigo em Chinês | WPRIM | ID: wpr-994556

RESUMO

Objective:To investigate the long-term outcome of centrally located hepatocellular carcinoma treated by radical resection and adjuvant radiotherapy(RT).Methods:A retrospective study was used to collect and analyze the clinical and pathological data of 193 patients with centrally located HCC who underwent surgery from Jun 2015 to Jun 2020. According to whether RT was used, these patients were allocated into liver resection (LR) combined RT (88 cases) and LR alone group (105 cases).Results:The 1-, 3-, and 5-year OS rates were 98%, 85%, and 74% for patients in the LR+RT group, and 79%, 66%, and 59% for patients in the LR group, respectively. The 1-, 3-, 5-year RFS rates were 76%, 55% and 44% for patients in the LR+RT group, and 51%, 40%, and 37% for patients in the LR group, respectively. OS and RFS was significantly different in LR+RT group compared with that in LR group (χ 2=5.825, P=0.016;χ 2=5.230, P=0.022, respectively). Cox analysis showed that RT was the independent prognostic factor for centrally located HCC in OS and RFS ( P=0.009, P=0.017, respectively). Subgroup analysis suggested that RT could reduce early recurrence ( HR=0.41,95% CI:0.21-0.80, P=0.002). Conclusion:Liver resection combined with adjuvant radiotherapy for centrally located HCC is safe and effective.

17.
Chinese Journal of Hepatobiliary Surgery ; (12): 609-614, 2023.
Artigo em Chinês | WPRIM | ID: wpr-993383

RESUMO

Objective:To investigate the expression of zinc finger protein 22 (ZNF22) gene in hepatocellular carcinoma (HCC) and its effect on tumor proliferation, apoptosis, invasion and metastasis of HCC.Methods:The expression of ZNF22 in 32 HCC specimens, and 371 HCC samples from the cancer genome atlas database were analyzed. ZNF22 knockdown and negative control SNU-449 and JHH-7 HCC cell lines were constructed. The effects of ZNF22 on HCC cells were observed by cell proliferation assay, plate clone formation assay, apoptosis assay, scratch healing assay, Transwell invasion assay, subcutaneous tumor formation, tail vein injection transfer, and small animal live imaging assay in nude mice.Results:The expression of ZNF22 gene is higher in HCC tissues than in paracellular carcinoma tissues, and the difference was statistically significant ( P<0.001). The growth rate of SNU-449 and JHH-7 cells in ZNF22 knockdown group was lower than that in control group, and the difference was statistically significant ( P<0.001). Compared with negative control group, the clone number formed by SNU-449 cells in ZNF22 knockdown group decreased (26±8 vs. 59±5, P<0.01), the level of apoptosis increased (6.60%±0.22% vs. 2.38%±0.30%, P<0.001), the migration rate decreased (14.47%±6.42% vs. 68.84%±8.01%, P<0.001), and the number of invasive cells decreased (48.00±2.23 vs. 179.00±4.81, P<0.001). There was no obvious tumor growth after subcutaneous injection of JHH-7 cells into nude mice in ZNF22 knockdown group, and the systemic fluorescence expression was lower than that of the negative control group, and the difference was statistically significant ( P<0.05). No metastases were observed on autopsy in knockdown group nude mice. Conclusion:ZNF22 is highly expressed in HCC while knockdowing ZNF22 gene inhibited the growth, proliferation, invasion, metastasis of HCC cells, and induced apoptosis of HCC cells.

18.
Chinese Journal of Hepatobiliary Surgery ; (12): 455-461, 2023.
Artigo em Chinês | WPRIM | ID: wpr-993355

RESUMO

Objective:To detect the expression of methyl methanesulfonate and UV sensitive gene clone 81 (Mus81) in hepatocellular carcinoma(HCC) and to observe the effects of Mus81 on the migration, invasion and metastatic ability of human HCC cells.Methods:Thirty-two tissue specimens were selected from HCC tissues and corresponding paraneoplastic tissues of patients with HCC who underwent surgical resection in Guangzhou Red Cross Hospital Affiliated to Jinan University from January 2020 to June 2021. The expression levels of Mus81 in 32 HCC specimens, 374 HCC samples from the cancer genome atlas database, human normal liver cell line HL-7702 and human HCC cell lines JHH-7, Huh-7 and Hep3B were analyzed. Mus81 knockdown in JHH-7, Huh-7 and overexpressed in Hep3B HCC cell lines were constructed, and the effects of Mus81 on HCC cells were observed by scratch assay, Transwell migration and invasion assay and tail vein injection transfer assay in nude mice.Results:The expression of Mus81 was higher in HCC tissues or cell lines than which in paraneoplastic tissues or normal hepatocyte lines (all P<0.05). The migration rate, metastatic and invasive cell numbers of Mus81-knockdown Huh-7 HCC cells were 22.24%±2.16%, 49.04±5.62, 3.81±1.08, the negative control group were 26.89%±1.15%, 86.81±4.79, 19.78±3.30, and the differences between the two groups were statistically significant ( t=4.24, 26.59, 23.92, all P<0.01). The migration rate, metastatic and invasive cell numbers of Mus81-overexpressed Hep3B HCC cells were 80.57%±5.12%, 18.74±8.07, 33.81±8.44, which were significantly higher than those of the empty vector group 64.17%±7.20%, 10.96±5.32, 3.04±1.13, and the differences were statistically significant ( t=4.15, 4.18, 18.78, all P<0.01). Tail vein transfer experiments in nude mice showed that the total fluorescence expression, weight of metastatic tumors, and the metastatic rates in kidney, vertebral column, neck, axilla and subcutis in nude mice injected with Mus81-knockdown JHH-7 cells were significantly lower than those in the control group (all P<0.05). Conclusion:Mus81 gene expression is upregulated in HCC and promotes the migration, invasion and metastatic ability of HCC cells, suggesting that Mus81 may be a potential therapeutic target for HCC.

19.
Chinese Journal of Hepatobiliary Surgery ; (12): 328-332, 2023.
Artigo em Chinês | WPRIM | ID: wpr-993332

RESUMO

Objective:To explore the clinical effect of laparoscopic anatomical hepatic segment Ⅷ (S8) resection.Methods:Of 16 patients with liver cancer who underwent laparoscopic anatomical hepatic S8 resection at the National Cancer Center from October 2020 to October 2022 were were enrolled, including 13 males and 3 females, aged (59.1±10.9) years. The operation time, intraoperative blood loss, occurrence of intraoperative blood transfusion, and postoperative complications were retrospectively analyzed. Recurrence and survival were followed up by outpatient and telephone reviews.Results:Laparoscopic anatomical hepatic S8 resection was successfully performed in 16 patients without conversion to laparotomy. Among them, 10 patients underwent the intraoperative ultrasound guided hepatic parenchymal approach, and 6 underwent laparoscopic Glissonean pedicle puncture for the positive staining of S8 using indocyanine green. The operation time was (274.8±82.8) min, and the intraoperative blood loss was [ M( Q1, Q3)] 100.0 (50.0, 200.0) ml. There were no intraoperative blood transfusion or postoperative complication. The drainage tube was successfully removed and the patients were discharged 5 to 7 days after surgery. The patients were followed up for 5 to 24 months and all survived. Two patients had tumor recurrence. Conclusion:Laparoscopic anatomical S8 resection is safe and feasible.

20.
Chinese Journal of Trauma ; (12): 421-426, 2023.
Artigo em Chinês | WPRIM | ID: wpr-992618

RESUMO

Objective:To evaluate the risk factors for adjacent vertebral compression fracture (AVCF) after fusion surgery of lumbar canal stenosis in the elderly.Methods:A retrospective cohort study was designed for 297 patients with lumbar canal stenosis who underwent fusion surgery in Hubei Provincial Hospital of Integrated Chinese and Western Medicine from January 2017 to December 2020. There were 42 males and 255 females, aged 68-85 years [(76.3±7.2)years]. The patients were divided into AVCF group ( n=67) and non-AVCF group ( n=230) according to with or without the occurrence of AVCF. The indicators recorded were the gender, age, body mass index, education level, number of combined basic diseases, course of the disease, preoperative bone mineral density, intraoperative bleeding volume, number of level fused during operation, postoperative blood transfusion volume, postoperative observation in the ICU, types of postoperative external fixation and time of external fixation. Univariate analysis was conducted to analyze the correlation between above risk factors and AVCF after fusion surgery of lumbar canal stenosis in the elderly. Multivariate Logistic regression analysis was used to determine the independent risk factors for the occurrence of AVCF in these patients. Results:In the univariate analysis, age, education level, preoperative bone mineral density, intraoperative bleeding volume, postoperative blood transfusion volume and postoperative observation in the ICU were correlated with AVCF after fusion surgery of lumbar canal stenosis in the elderly ( P<0.05 or 0.01), while there was no correlation of AVCF with gender, body mass index, number of combined basic diseases, course of the disease, number of level fused during operation, types of postoperative external fixation and time of external fixation (all P>0.05). Multivariate Logistic regression analysis showed that gender ( OR=4.02, 95% CI 1.35, 12.00, P<0.05), preoperative bone mineral density≤-2.5 SD ( OR=2.01, 95% CI 1.47, 2.75, P<0.01), intraoperative bleeding volume≥475 ml ( OR=1.01, 95% CI 1.00, 1.01, P<0.01) and postoperative blood transfusion volume≥434 ml ( OR=0.99, 95% CI 0.98, 1.00, P<0.01) were significantly associated with AVCF after fusion surgery of lumbar canal stenosis in the elderly. Conclusion:The female, bone mineral density≤-2.5 SD, intraoperative bleeding volume≥476 ml and postoperative blood transfusion volume≥434 ml are independent risk factors for AVCF after fusion surgery of lumbar canal stenosis in the elderly.

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