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Objective: To summarize the clinical, imaging, and pathological characteristics of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome (MELAS) to improve the diagnosis of this rare disease. Methods: A retrospective case series was conducted to collect the clinical data and results of genetic testing, muscle biopsy, and imaging studies including computed tomography (CT), magnetic resonance imaging (MRI), and magnetic resonance spectroscopy (MRS) of 35 patients with MELAS admitted to the Nanjing Drum Tower Hospital from 2012 to 2021. Descriptive statistical analysis including mean, standard deviation, and frequency percentage were carried out. Results: The average age of onset of the patients was 30.2±2.3 years; the prevalence of family history was 20%. The two main initial symptoms were limb weakness and convulsions. The clinical manifestations of the neuromuscular system were proximal muscle weakness and exercise intolerance. The endocrine system is the most affected outside the neuromuscular system, with diabetes being the most common condition. Among the five patients who underwent brain CT, four showed hypodense lesions and two had calcified lesions. Brain MRI in 26 patients showed that the lesions more often affected the parietal lobe, basal ganglia, temporal lobe, occipital lobe, and frontal lobe than the infratentorial areas. Twelve of these individuals exhibited different levels of brain atrophy. Among the 10 patients who underwent 1H-MRS, nine showed a decrease in N-acetylaspartate (NAA) levels, eight exhibited abnormal lactate elevation (Lac peaks), whereas six had both reduced NAA levels and the presence of Lac peaks. Thirty-one patients underwent genetic testing; among them, 25 were found to have the mt.3243A>G mutation, while the remaining six exhibited rare gene alterations. Muscle biopsies were performed in 21 patients, and 15 showed abnormal mitochondrial proliferation manifested by ragged red fibers and defective oxidative phosphorylation manifested by cytochrome C oxidase (COX) enzyme-deficient muscle fibers. Conclusion: The clinical manifestations of MELAS syndrome are variable and complex, and early atypical symptoms could be missed or misdiagnosed. A detailed clinical history, imaging MRS analysis, muscle biopsy, and genetic testing are necessary to confirm the accurate diagnosis of MELAS.
Assuntos
Síndrome MELAS , Imageamento por Ressonância Magnética , Humanos , Síndrome MELAS/diagnóstico , Estudos Retrospectivos , Adulto , Encéfalo/patologia , Encéfalo/diagnóstico por imagem , Tomografia Computadorizada por Raios X , Masculino , Feminino , Espectroscopia de Ressonância MagnéticaRESUMO
Objective: To evaluate the efficacy and safety of hepatic arterial infusion chemotherapy (HAIC) combined with lenvatinib and tislelizumab in the treatment of unresectable intrahepatic cholangiocarcinoma (ICC). Methods: The clinical data of 12 patients with unresectable ICC who received HAIC combined with lenvatinib and tislelizumab in the First Affliated Hospital of Soochow University from October 2021 to April 2023 were retrospectively analyzed. HAIC included gemcitabine plus oxaliplatin; this regimen was combined with lenvatinib and tislelizumab within 3-7 days after its initial administration. Relevant laboratory examinations were performed before each cycle of HAIC, and enhanced computed tomography/magnetic resonance imaging examinations were performed every 6-9 weeks. Tumor response to treatment was evaluated using the modified Response Evaluation Criteria in Solid Tumors. The objective response rate, disease control rate, progression-free survival, overall survival, and treatment-related adverse reactions of patients with ICC were statistically analyzed. Results: The objective response rate to HAIC combined with lenvatinib and tislelizumab was 6/12; the disease control rate was 8/12; the median progression-free survival was 11.8 months; and the median overall survival was 14.2 months. Three patients had grade â £ adverse reactions (increased alanine aminotransferase and aspartate aminotransferase thrombocytopenia), while three patients had grade â ¢ adverse reactions (increased total bilirubin, alanine aminotransferase, and aspartate aminotransferase). The remaining patients had grade â -â ¡ adverse reactions. There were no serious complications related to interventional surgery. Conclusions: Use of HAIC (gemcitabine plus oxaliplatin) combined with lenvatinib and tislelizumab in the treatment of unresectable ICC may be safe and feasible. Preliminary clinical studies have shown that this combination can improve the survival and prognosis of patients with ICC.
Assuntos
Anticorpos Monoclonais Humanizados , Protocolos de Quimioterapia Combinada Antineoplásica , Neoplasias dos Ductos Biliares , Colangiocarcinoma , Compostos de Fenilureia , Quinolinas , Humanos , Colangiocarcinoma/tratamento farmacológico , Quinolinas/administração & dosagem , Quinolinas/uso terapêutico , Anticorpos Monoclonais Humanizados/administração & dosagem , Anticorpos Monoclonais Humanizados/uso terapêutico , Estudos Retrospectivos , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Compostos de Fenilureia/administração & dosagem , Compostos de Fenilureia/uso terapêutico , Neoplasias dos Ductos Biliares/tratamento farmacológico , Masculino , Feminino , Infusões Intra-Arteriais , Gencitabina , Desoxicitidina/análogos & derivados , Desoxicitidina/administração & dosagem , Pessoa de Meia-Idade , Oxaliplatina/administração & dosagem , Oxaliplatina/uso terapêutico , Artéria Hepática , Idoso , Resultado do TratamentoRESUMO
This paper presents a novel reaction microscope designed for ion-atom collision investigations, established at the Institute of Modern Physics, Chinese Academy of Sciences, Lanzhou, China. Its time-of-flight (TOF) spectrometer employs an innovative flight-time focusing method consisting of two acceleration regions, providing optimal time focusing conditions for charged fragments with diverse initial velocities. The TOF spectrometer's axis intentionally tilts by 12° relative to the ion beam direction, preventing potential obstructions from the TOF grid electrodes. The introduced focusing method allows for a flexible time-focusing TOF spectrometer design without restricting the length ratio of the two regions. In addition, this configuration in our case significantly suppresses noise on the recoil ion detector produced by residual gas in the ion beam trajectory, which is a considerable challenge in longitudinal spectrometers. In a test experiment on the single electron capture reaction involving 62.5 keV/u He2+ ions and a helium atomic beam, the recoil longitudinal momentum resolution achieved 0.068 atomic units. This novel configuration and successful test run show excellent precision for ion-atom collision studies.
RESUMO
Adeno-associated virus (AAV) vectors have been widely employed in gene therapy for ocular and systemic diseases. However, clinical trial outcomes have indicated that gene therapy may trigger severe adverse events associated with immune-inflammatory reactions, thereby impacting the safety and efficacy of gene therapy. The immune-inflammatory reaction induced after gene therapy in the eye is referred to as gene therapy-associated uveitis, which has become a major obstacle limiting the long-term and effective use of ocular gene therapy. This review comprehensively explores four aspects: the immune response mechanisms of gene therapy, ocular manifestations of associated uveitis, factors influencing immune inflammation, and preventive and therapeutic strategies. The aim is to provide insights for the development of safer and more effective ocular gene therapy.
Assuntos
Dependovirus , Uveíte , Humanos , Dependovirus/genética , Vetores Genéticos , Terapia Genética , Uveíte/terapia , ImunidadeRESUMO
Objective: To identify BRAF V600E mutations in adult Wilms tumor (WT) with overlapping histologic features of metanephric adenoma (MA) and to investigate the clinicopathological features of adult WT. Methods: The clinical features of adult WT diagnosed at the Fudan University Shanghai Cancer Center, Shanghai, China from 2012 to 2021 were reviewed. HE-stained slides of all cases were reviewed by 2 expert pathologists. Representative tissues were selected for BRAF V600E immunohistochemical (IHC) staining and gene sequencing. Results: In adult WT with MA-like areas (cohort â , n=6), 5 of the 6 cases were composed of epithelial-predominant and were positive for WT-1 and CD56, respectively, and all were positive for CD57. All 6 cases revealed highly variable Ki-67 indices, ranging from 1% in some areas to 60% in others. 5 of the 6 cases harbored a BRAF V600E mutation. All cases in cohort I were followed up for 23 to 71 months, and all survived. In classical adult WT without MA-like areas cohort (cohort â ¡, n=13), all 7 cases with available material were negative for BRAF by IHC and none of them had any BRAF mutation. Conclusions: BRAF V600E mutations are frequently present in adult WT with overlapping morphologically features of MA, but not in those without. More importantly, adult WTs with overlapping histologic features of MA may be an intermediate entity between typical MA and WT that may have a favorable prognosis and possible therapeutic targets.
Assuntos
Adenoma , Neoplasias Renais , Tumor de Wilms , Adulto , Humanos , Proteínas Proto-Oncogênicas B-raf/genética , China , Tumor de Wilms/genética , Neoplasias Renais/genética , Neoplasias Renais/patologia , Mutação , Adenoma/genética , Biomarcadores Tumorais/genéticaRESUMO
To explore the effect of Internet+diet self-management intervention technology on the blood pressure control of hypertension high-risk population through the intervention of hypertension high-risk population in Haikou City community, so as to provide scientific evidence for the prevention and treatment of cardiovascular diseases (CVD). The multi-stage cluster sampling method was used, and 295 hypertension high-risk participants were recruited from 15 communities in Haikou City from July to December 2021. The 15 communities were randomly divided into three groups: blank group, traditional group and Internet plus group by random number table method. The blank group referred to the group (99 participants) that did not take special intervention measures but the routine interventions in accordance with the "National Basic Public Health Service Standards (the Third Edition) Health Education Service Standards". On the basis of the blank group, the traditional group (95 participants) was intervened by giving additional traditional methods such as holding lectures and distributing popular science books. The Internet plus group (101 participants) was given additional Internet measures on the basis of the intervention of the traditional group. After 6 months, questionnaires, laboratory biochemical tests, and physical measurements were conducted. SPSS 25.0 software was applied for data analysis. Measurement data that followed normal distribution were statistically described by using mean±standard deviation, analysis of variance was used for inter group comparisons before intervention, analysis of covariance was used for inter group comparisons after intervention, and Bonferroni adjustment was used for pairwise comparisons between groups. Measurement data that did not follow the Normal distribution were represented by M (Q1, Q3). The rank sum test was used for inter group comparison. The k sample Kruskal Wallis single factor ANOVA was used to compare the distribution between different groups. Counting data were described by composition ratio or rate. Under the premise of balanced comparison between groups before intervention, Chi-squared test was used for inter group comparison after intervention, and Bonferroni adjustment method was used for pairwise comparison between groups. The results showed that a total of 295 participants were included, with males accounting for 35.6% (105) and females accounting for 64.4% (190). The age ranged from 55 to 74 years old, with an average age of (64.69±5.73) years. The number of married accounted for 95.6% (282 participants). There were no statistically significant differences in gender, age, family history, education level, occupation, marital status, drinking habits, regular exercise, dietary status, SBP (systolic blood pressure), DBP (diastolic blood pressure), pulse pressure difference, BMI (body mass index), folic acid, and 24-hour urine sodium among the three groups upon enrollment (P values>0.05). After the intervention, the drinking rate was as follows: Internet plus group (29, 28.7%)Assuntos
Doenças Cardiovasculares
, Hipertensão
, Autogestão
, Masculino
, Feminino
, Humanos
, Pessoa de Meia-Idade
, Idoso
, Pressão Sanguínea
, Hipertensão/epidemiologia
, Hipertensão/prevenção & controle
, Doenças Cardiovasculares/prevenção & controle
, Dieta
, Sódio
, Internet
, Ácido Fólico
RESUMO
Diabetes is one of the most important non-communicable chronic diseases. Although a large amount of clinical evidence on the effectiveness of diabetes prevention and treatment interventions has been established, the current quality of care and results are still insufficient. Implementation Research can bridge the gap between research and practice. Implementation Research on diabetes management can clarify what is effective and what is ineffective in management, and promote the transformation of complex, multi-component interventions into medical practice faster and more effectively. This paper reviews the main research contents and application of implementation research of diabetes management at home and abroad, aiming to provide reference for related research and promote the application of implementation research in diabetes management in China.
Assuntos
Diabetes Mellitus , Autocuidado , Humanos , Autocuidado/métodos , China , Diabetes Mellitus/prevenção & controleRESUMO
Objective: To compare the safety and clinical efficacy of endoscopic and surgical treatment of patients with delayed iatrogenic bile duct injury (DBDI) with severity (SG) grade 1 to 2. Methods: The clinical data of 129 patients with SG grade 1 to 2 DBDI who received endoscopic or surgical treatment in the First Hospital of Lanzhou University from November 2007 to November 2021 were retrospectively collected. There were 46 males and 83 females,aged (M(IQR)) 54(22)years(range: 21 to 82 years). The baseline data of the two groups were matched 1â¶1 by propensity score matching(caliper value was 0.2). Independent sample t test,rank sum test,χ2 test or Fisher exact probability test were used to analyze the data of the two matched groups. Results: There were 48 patients in each of the endoscopic treatment and surgical groups after matching,and there was no difference in general information between the two groups(both P>0.05). The bile duct injury-repair interval and intraoperative anesthesia complications were not statistically significant between the two groups after matching(all P>0.05). Compared with the surgical group, patients in the endoscopic treatment group had significantly shorter operative time(50 (30) minutes vs. 185 (100) minutes, Z=7.675,P<0.01) and postoperative hospital stay(5 (5) days vs. 12 (7) days, Z=5.848, P<0.01).For safety,there was no statistical difference in the incidence of immediate postoperative complications between the two groups with Clavien-Dindo classification of surgical complications<â ¢;the incidence of serious postoperative complications (Clavien-Dindo classification of surgical complications≥â ¢) was significantly higher in the surgical group than in the endoscopic treatment group(P=0.012). The incidence of long-term postoperative complications was not statistically different between the two groups(28.1% vs. 20.7%,P=0.562). In terms of efficacy,the postoperative liver function indexes of patients in both groups improved significantly compared with the preoperative period and returned to normal or near normal levels; the postoperative infection indexes of both groups showed an increasing trend,but were within the normal range. Of the 96 patients in both groups,61 obtained follow-up,and the follow-up time was (89.4±48.0)months(range: 3 to 165 months),and there was no statistical difference between the two groups(P=0.079). The probability of excellent long-term follow-up (78.1% vs. 86.2%) was not statistically different between the two groups(P=0.412).In patients with Strasberg-Bismuth type E1,the probability of excellent long-term follow-up was higher in the endoscopic treatment group compared with the surgical group(13/14 vs. 2/5,P=0.037). Conclusions: For DBDI patients with SG grade 1 to 2 and bile duct continuity,endoscopy can be used as the first deterministic treatment. The advantages of endoscopic therapy compared to surgery are the lower incidence of postoperative serious complications,and the shorter duration of surgery and postoperative hospital stay.
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Objective: To analyze the association between sleep duration and cognitive function of the elderly in six provinces of China. Methods: Based on the cross-sectional survey data of the elderly from the Healthy Ageing Assessment Cohort Study in 2019, 4 644 participants' sociodemographic and economic indicators, lifestyle, prevalence of major chronic diseases, and sleep status, including night-time sleep duration, daytime sleep duration and insomnia, were collected by questionnaires. Cognitive function was evaluated by the Mini-Mental State Examination. Multivariate logistic regression was used to analyze the association between night-time sleep duration, daytime sleep duration and cognitive function. Results: The mean age of 4 644 respondents was (72.3±5.7) years, and 2 111 of them were males (45.5%). The mean total daily sleep time of the elderly was (7.9±1.9) hours, and the proportion of those who slept less than 7.0, 7.0-8.9 and≥9.0 hours was 24.1% (1 119), 42.1% (1 954) and 33.8% (1 571), respectively. The mean sleep time at night was (6.9±1.7) hours. About 23.7% (1 102) of the elderly did not sleep during the day, and the mean duration of the elderly who slept during the day was (78±51) minutes. Among the elderly with insomnia, 47.9% were still satisfied with their sleep quality. The mean value of MMSE score of 4 644 respondents was (24.5±5.3), and the cognitive impairment rate was 28.3% (1 316). The results of multivariate logistic regression model analysis showed that the OR (95%CI) value of the risk of cognitive impairment in older people who did not sleep, slept for 31 to 60 minutes and slept more than one hour was 1.473 (1.139 to 1.904), 1.277 (1.001 to 1.629) and 1.496 (1.160 to 1.928), respectively, compared with those who slept for 1 to 30 minutes during the daytime. Compared with those who slept for 7.0â8.9 hours at night, the OR (95%CI) value of the risk of cognitive impairment in older people who slept more than 9.0 hours was 1.239 (1.011 to 1.519). Conclusion: The cognitive function is related to sleep duration in the Chinese elderly.
Assuntos
Distúrbios do Início e da Manutenção do Sono , Transtornos do Sono-Vigília , Masculino , Humanos , Idoso , Feminino , Distúrbios do Início e da Manutenção do Sono/epidemiologia , Distúrbios do Início e da Manutenção do Sono/complicações , Estudos Transversais , Estudos de Coortes , Sono , Cognição , China/epidemiologiaRESUMO
OBJECTIVE: The aging society and the empty nest of the elderly have become issues that cannot be ignored by the Chinese government. Not only does the physical function of the empty-nest elderly (ENE) decline, and the incidence and prevalence of chronic diseases increase significantly, but they are also more likely to have loneliness, low life satisfaction, mental health problems, and even a much greater possibility of suffering from depression than the nonempty-nest elderly, besides the possibility of catastrophic health expenditure (CHE) which is also greatly increased. This paper aims to evaluate the status quo of dilemma and determinants of a vast sample of subjects based on the national level. SUBJECTS AND METHODS: Data were obtained from the latest 2018's data of the China Health and Retirement Longitudinal Study (CHARLS). Under the guidance of Andersen's model of health services utilization, this study clarified the overall and different demographic characteristics and prevalence of CHE among ENE and further built the Logit and Tobit model to explore the determinants of CHE occurrence and its intensity. RESULTS: A total of 7,602 ENE were included in the analysis, and the overall incidence of CHE among them was 21.20%. Poor self-reported health status (OR=2.03, 95% CI: 1.71-2.35), suffering from three or more chronic diseases simultaneously (OR=1.79, 95% CI: 1.42-2.15), low life satisfaction (OR=1.44, 95% CI: 1.20-1.68) and advanced age played the leading role in accounting for its high risk, and its intensity increased 0.0311 (SE=0.005), 0.0234 (SE=0.007), and 0.0178 (SE=0.005), respectively. In contrast, the leading drop in the probability of CHE among ENE was those whose monthly income was over 20,000 CNY (OR=0.46, 95% CI: 0.38-0.55), whose intensity declined 0.0399 (SE=0.005), whose monthly income was between 2,000 and 20,000 CNY (OR=0.78, 95% CI: 0.66-0.90) and whose intensity declined 0.021 (SE=0.005), and who were married during the survey period (OR=0.82, 95% CI: 0.70-0.94). Simultaneously, rural ENE showed more vulnerability and higher risk of CHE when confronted with these factors compared with the urban ones. CONCLUSIONS: More attention should be paid for ENE in China. The priority, including the relevant health insurance or social security measurements, should be further strengthened.
Assuntos
Gastos em Saúde , Aposentadoria , Idoso , Humanos , Estudos Longitudinais , Inquéritos Epidemiológicos , ChinaRESUMO
The fragmentation dynamics of two isomers of C3H6, cyclopropane and propene, induced by 4 keV/u Ar8+ are investigated employing a reaction microscope. Four two-body and two three-body dissociation channels of C3H6 2+ dications are identified for each isomer, among which the channels involving CC bond breaking are found to be much more favored than H3 + and H2 + formation channels. The observation of the CH3 + or H3 + formation channels from cyclopropane are direct evidence of the proton migration within the carbon skeleton before dissociation. Obvious isomer effects are revealed by comparing the relative branching ratios of different channels of the two isomers. Moreover, it was shown that a sequential dissociation mechanism with H elimination prior to CC bond cleavage may be dominant for the two three-body dissociation channels for both isomers.
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Objective: To study the clinical significance of autoantibodies against different ubiquitin carboxyl hydrolase L1 (UCH-L1) epitopes in Sjogren syndrome (SS). Methods: The serum levels of different UCH-L1 epitope autoantibodies in 98 SS patients [SS group, 17 males and 81 females, aged (49.1±12.3) years] in the Fifth Affiliated Hospital of Zhengzhou University and Peking University People's Hospital from January 2017 to January 2020 and 37 healthy controls [control group, 6 males and 31 females, aged (46.3±5.8) years] were determined by enzyme-linked immunosorbent assay (ELISA). Three potential epitopes of UCH-L1 protein were analyzed and synthesized and anti-UCH-L1203-214 and anti-UCH-L158-69 antibodies were studied between the two groups. The levels of the two anti-UCH-L1 antibodies in the two groups were compared. The correlation between the levels of UCH-L1 antibodies and clinical data of SS patients were analyzed by Pearson correlation analysis. Results: The serum levels of anti-UCH-L1203-214 and anti-UCH-L158-69 antibody in SS patients were significantly higher than those in healthy controls (HCs) (anti-UCH-L1203-214: 108.2±54.3 vs 78.9±25.8, P<0.001, anti-UCH-L158-69: 86.8±33.3 vs 60.4±21.5, P<0.001). The positive rates of anti-UCH-L1203-214 and anti-UCH-L158-69 antibodies in serums of SS patients were 27.6 % (27/98) and 25.5% (25/98), and those in HCs were 2.7%(1/37) and 5.4 %(2/37), respectively. In SS patients with positive serum anti-UCH-L158-69 antibody, the levels of IgG, γ globulin and rheumatoid factor (RF) and anti-SS-related antigen B (anti-SSB) antibody positive rate were all significantly higher than those in patients with negative antibody (all P<0.05). In SS patients with negative antinuclear antibody (ANA), anti-RNA binding protein (anti-RNP) antibody, anti-SS-related antigen A (anti-SSA) antibody and anti-SSB antibody, the positive rates of anti-UCH-L1203-214 antibody was 32.1%(9/28), 27.2%(25/92), 36.4%(12/33), 28.6%(18/63), respectively; and the positive rates of anti-UCH-L158-69 antibody was 21.4%(6/28), 30.4%(28/92), 30.3%(10/33), 20.6%(13/63), respectively. The level of serum anti-UCH-L1203-214 antibody in SS patients was positively correlated with the IgA level (r=0.21, P=0.024). The level of anti-UCH-L158-69 antibody in SS patients was positively correlated with the levels of γ-globulin, IgG and RF (r=0.35, 0.33, 0.32, all P<0.01). Conclusion: Autoantibodies against UCH-L1 epitopes are correlated with some clinical parameters of SS patients, which is of promising significance in the screening and diagnosis of SS.
Assuntos
Autoanticorpos , Síndrome de Sjogren , Adulto , Anticorpos Antinucleares , Autoanticorpos/análise , Epitopos , Feminino , Humanos , Hidrolases , Imunoglobulina G , Masculino , Pessoa de Meia-Idade , Fator Reumatoide , Síndrome de Sjogren/diagnóstico , Ubiquitina , Ubiquitina TiolesteraseRESUMO
Objective: The investigation and research on the application status of Hepatic Venous Pressure Gradient (HVPG) is very important to understand the real situation and future development of this technology in China. Methods: This study comprehensively investigated the basic situation of HVPG technology in China, including hospital distribution, hospital level, annual number of cases, catheters used, average cost, indications and existing problems. Results: According to the survey, there were 70 hospitals in China carrying out HVPG technology in 2021, distributed in 28 provinces (autonomous regions and municipalities directly under the central Government). A total of 4 398 cases of HVPG were performed in all the surveyed hospitals in 2021, of which 2 291 cases (52.1%) were tested by HVPG alone. The average cost of HVPG detection was (5 617.2±2 079.4) yuan. 96.3% of the teams completed HVPG detection with balloon method, and most of the teams used thrombectomy balloon catheter (80.3%). Conclusion: Through this investigation, the status of domestic clinical application of HVPG has been clarified, and it has been confirmed that many domestic medical institutions have mastered this technology, but it still needs to continue to promote and popularize HVPG technology in the future.
Assuntos
Hipertensão Portal , China/epidemiologia , Veias Hepáticas , Humanos , Hipertensão Portal/diagnóstico , Cirrose Hepática , Pressão na Veia PortaRESUMO
Objective: To explore the safety and short-term efficacy of venetoclax combined with azacitidine (Ven+AZA) in previously untreated patients unfit for standard chemotherapy and patients with relapsed/refractory (R/R) acute myeloid leukemia (AML) in China. Methods: A retrospective study was conducted in 60 previously untreated patients unfit for standard chemotherapy and patients with R/R AML who received Ven+ AZA (venetoclax, 100 mg D1, 200 mg D2, 400 mg D3-28; azacitidine, 75 mg/m(2) D1- 7) at the Peking University Institute of Hematology from June 1, 2019 to May 31, 2021. The incidence of adverse events, complete remission (CR) /CR with incomplete hematological recovery (CRi) rate, objective remission rate (ORR) , and minimal residual disease (MRD) status in patients with different risk stratification and gene subtypes were analyzed. Results: The median age of the patients was 54 (18-77) years, 33 (55.0%) were males, and the median follow-up time was 4.8 (1.4-26.3) months. Among the 60 patients, 24 (40.0%) were previously untreated patients unfit for standard chemotherapy, and 36 (60.0%) were R/R patients. The median mumber cycles of Ven+AZA in the two groups were both 1 (1-5) . According to the prognostic risk stratification of the National Comprehensive Cancer Network, it was divided into 8 cases of favorable-risk, 2 cases of intermediate risk, and 14 cases of poor-risk. In previously untreated patients unfit for standard chemotherapy, after the first cycle of Ven+AZA, 17/24 (70.8%) cases achieved CR/CRi, 3/24 (12.5%) achieved partial remission (PR) , and the ORR was 83.3%. Among them, nine patients received a second cycle chemotherapy and two received a third cycle. Among CR/CRi patients, 8/17 (47.1%) achieved MRD negativity after two cycles of therapy. In the R/R group, after the first cycle of Ven+AZA, 21/36 (58.3%) cases achieved CR/CRi (7/21 achieved MRD negativity) , 3 achieved PR, and the ORR was 66.7%. Among R/R patients, 12 were treated for more than two cycles. There were no new CR/CRi patients after the second treatment cycle, and 14 cases (66.7%) achieved MRD negativity. According to the time from CR to hematological recurrence, the R/R group was divided into 12 cases in the favorable-risk group (CR to hematological recurrence ≥18 months) and 24 in the poor-risk group (CR to hematological recurrence<18 months, no remission after one cycle of therapy, and no remission after two or more cycles of therapy) . Eleven of 24 (45.8%) cases achieved CR/CRi after one cycle of Ven+AZA in the poor-risk R/R group, and 10 of 12 (83.3%) achieved CR/CRi in the favorable-risk R/R group, which was significantly superior to the poor-risk group (P=0.031) . After one cycle of treatment, 13 patients with IDH1/2 mutations and 4 that were TP53-positive all achieved CR/CRi. The CR/CRi rate of 18 patients with NPM1 mutations was 77.8%. Five patients with RUNX1-RUNX1T1 combined with KIT D816 mutation (two initial diagnoses and three recurrences) had no remission. Ven+ AZA was tolerable for AML patients. Conclusion: Ven+AZA has acceptable safety in previously untreated patients unfit for standard chemotherapy, patients with R/R AML can achieve a high response rate, and some patients can achieve MRD negativity. It is also effective in NPM1-, IDH1/IDH2-, and TP53-positive patients. The long-term efficacy remains to be observed.
Assuntos
Azacitidina , Leucemia Mieloide Aguda , Idoso , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Azacitidina/uso terapêutico , Compostos Bicíclicos Heterocíclicos com Pontes/uso terapêutico , Humanos , Leucemia Mieloide Aguda/genética , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , SulfonamidasRESUMO
OBJECTIVE: To explore the correlation of cytochrome B-245 alpha chain (CYBA) rs4673 and cholesteryl ester transfer protein (CETP) rs12720922 polymorphisms with the susceptibility of gene-ralized aggressive periodontitis (GAgP). METHODS: The study was a case-control trial. A total of 372 GAgP patients and 133 periodontally healthy controls were recruited. The CYBA rs4673 and CETP rs12720922 polymorphisms were detected by matrix assisted laser desorption ionization time of flight mass spectrometry (MALDI-TOF-MS). Logistic regression models were used to analyze the correlation of CYBA rs4673 and CETP rs12720922 variants with the susceptibility of GAgP. The interaction between the two gene polymorphisms to the susceptibility of GAgP was analyzed by the likelihood ratio test. The interaction model adopted was the multiplication model. RESULTS: The mean age of GAgP group and control group was (27.5±5.2) years and (28.8±7.1) years respectively. There was significant difference in age between the two groups (P < 0.05). The gender distribution (male/female) was 152/220 and 53/80 respectively, and there was no significant difference between GAgP group and controls (P>0.05). For CYBA rs4673, the frequency of CT/TT genotype in the GAgP group was significantly higher than that in the controls [18.0% (66/366) vs. 10.6% (14/132), P < 0.05]. After adjusting age and gender, the individuals with CT/TT genotype had a higher risk of GAgP (OR=1.86, 95%CI: 1.01-3.45, P < 0.05), compared with CC genotype. There was no statistically significant difference in distributions of the CETP rs12720922 genotypes (GG, AA/AG) between GAgP patients and healthy controls (P>0.05). A significant interaction between CYBA rs4673 and CETP rs12720922 in the susceptibility to GAgP was observed. The GAgP risk of the individuals with CYBA rs4673 CT/TT and CETP rs12720922 GG genotypes was significantly increased (OR=3.25, 95%CI: 1.36-7.75, P < 0.01), compared with those carrying CC and AA/AG genotypes. CONCLUSION: CYBA rs4673 CT/TT genotype is associated with GAgP susceptibility. There is a significant interaction between CYBA rs4673 CT/TT genotype and CETP rs12720922 GG genotype in the susceptibility of GAgP.
Assuntos
Periodontite Agressiva , Adulto , Periodontite Agressiva/genética , Estudos de Casos e Controles , Proteínas de Transferência de Ésteres de Colesterol/genética , Grupo dos Citocromos b , Feminino , Frequência do Gene , Predisposição Genética para Doença , Genótipo , Humanos , Masculino , NADPH Oxidases/genética , Polimorfismo de Nucleotídeo Único , Adulto JovemRESUMO
Objective: Using propensity score matching method(PSM) to investigate the clinical effect of surgical plus radio(chemo)therapy and non-surgery chemoradiotherapy treatment strategies for advanced tonsillar squamous cell carcinoma. Methods: A retrospective analysis was conducted on the clinical data of 324 patients diagnosed with advanced tonsillar squamous cell carcinoma and treated in Peking Union Medical College Hospital from 2000 to 2018, confirmed by pathology and without distant metastasis. Survival analysis was performed using Kaplan-Meier estimates, the Cox proportional hazards model, and propensity score matching(PSM). Results: Of the 324 patients, 102 were treated with non-surgery chemoradiotherapy treatment strategies and 222 with surgical plus radio(chemo)therapy treatment. Cox multivariate analysis showed that the non-surgery treatment group had a favorable prognosis than the surgical treatment group, however, these outcomes were not significantly different [overall survival(OS): adjusted Hazard Ratios(aHR): 0.92, 95% confidence interval(CI): 0.60-1.42; disease-specific survival(DSS): aHR: 0.71, 95%CI: 0.43-1.20; disease-free survival(DFS): aHR: 0.82, 95%CI: 0.53-1.28]. The new patient cohort consisted of 102 subpairs after PSM. There were no significant differences between two groups(OS: aHR: 0.85, 95%CI: 0.51-1.40; DSS: aHR: 0.62, 95%CI: 0.35-1.11; DFS: aHR: 0.80, 95%CI: 0.49-1.33). Conclusion: Our findings indicate that patients with non-surgical treatment do not have significantly better survival outcomes compared to surgical treatment group, while non-surgical treatment has advantages in improving the quality of life of patients, so comprehensive treatment based on radiotherapy and chemotherapy may be recommended for advanced tonsillar squamous cell carcinoma.
Assuntos
Carcinoma de Células Escamosas , Neoplasias Tonsilares , Carcinoma de Células Escamosas/terapia , Quimiorradioterapia , Humanos , Qualidade de Vida , Estudos Retrospectivos , Neoplasias Tonsilares/terapiaRESUMO
A deeper understanding of the cross-cultural applicability of cognitive tests across countries and cultures is needed to better equip neuropsychologists for the assessment of patients from diverse backgrounds. Our study compared cognitive test scores in patients with advanced Parkinson's disease (PD) at the Prince of Wales Hospital (n = 63; Hong Kong) and the Foothills Medical Center (n = 20; Calgary, Canada). The groups did not differ in age or sex (p > .05), but Western patients had significantly more years of education (M = 14.2, SD = 2.7) than Asian patients (M = 10.33, SD = 4.4). Cognitive tests administered to both groups included: digit span, verbal fluency (animals), the Boston Naming Test, and verbal memory (California Verbal Learning Test or Chinese Auditory Verbal Learning Test). Testing was completed before and 12 months after deep brain stimulation surgery. Results showed cognitive performance was similar across time, but significant group differences were found on digit span forward (longer among patients from Hong Kong; F(1, 75) = 44.155, p < .001) and the Boston Naming Test (higher percent spontaneous correct among patients from Canada; F(1, 62) = 7.218, p = .009, η2 = 0.104), after controlling for age, sex, and years of education. In conclusion, our findings provide preliminary support for the similarity of Chinese versions of tests originally developed for Western populations. Also, we caution that some aspects of testing may be susceptible to cultural bias and therefore warrant attention in clinical practice and refinement in future test development for Asian patients.
Assuntos
Doença de Parkinson , Cognição , Hong Kong , Humanos , Testes Neuropsicológicos , Doença de Parkinson/complicações , Estudos RetrospectivosRESUMO
Objective: To establish an index that can reflect the level of healthy aging promotion in a region. Methods: Establish an indicators system using expert consultation and then determine the weight for each indicator using the analytic hierarchy process. Finally, we can get the regional healthy aging promotion index. Results: Regional healthy aging promotion indicator system was established, including five first-level indicators (residence environment, medical service, public health, nurse and care, and supporting system) and 21 second-level indicators. The weight of every level-one indicator ranges from 0.073 to 0.346. Two indicators with the highest weight are residence environment and public health (0.346 and 0.325, respectively), while the indicator with the lowest weight is nurse and care (0.073). The importance of every level-two indicator ranges from 0.011 to 0.162. The consistency ratio of the regional healthy aging promotion index is 0.021, and the consistency test is qualified. Conclusion: Regional healthy aging promotion index established in this study is very scientific, reasonable, and applicable. It can be used to evaluate the region's situation or level of healthy aging promotion.
Assuntos
Envelhecimento Saudável , Meio Ambiente , Promoção da Saúde , Humanos , Saúde Pública , Meio SocialRESUMO
The case of oral hydrochloric acid poisoning is rare in clinic, and it is easy to be misdiagnosed when the poison is not clear. The clinical data of 1 case of oral hydrochloric acid poisoning successfully treated was retrospectively analyzed to provide reference for diagnosis and treatment of similar clinical cases.