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By directly altering microscopic interactions, pressure provides a powerful tuning knob for the exploration of condensed phases and geophysical phenomena1. The megabar regime represents an interesting frontier, in which recent discoveries include high-temperature superconductors, as well as structural and valence phase transitions2-6. However, at such high pressures, many conventional measurement techniques fail. Here we demonstrate the ability to perform local magnetometry inside a diamond anvil cell with sub-micron spatial resolution at megabar pressures. Our approach uses a shallow layer of nitrogen-vacancy colour centres implanted directly within the anvil7-9; crucially, we choose a crystal cut compatible with the intrinsic symmetries of the nitrogen-vacancy centre to enable functionality at megabar pressures. We apply our technique to characterize a recently discovered hydride superconductor, CeH9 (ref. 10). By performing simultaneous magnetometry and electrical transport measurements, we observe the dual signatures of superconductivity: diamagnetism characteristic of the Meissner effect and a sharp drop of the resistance to near zero. By locally mapping both the diamagnetic response and flux trapping, we directly image the geometry of superconducting regions, showing marked inhomogeneities at the micron scale. Our work brings quantum sensing to the megabar frontier and enables the closed-loop optimization of superhydride materials synthesis.
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BACKGROUND: Treatment options for human epidermal growth factor receptor 2 (HER2)-positive breast cancer brain metastases (BCBMs) remain limited. We previously reported central nervous system (CNS) activity for neratinib and neratinib-capecitabine. Preclinical data suggest that neratinib may overcome resistance to ado-trastuzumab emtansine (T-DM1) when given in combination. In Translational Breast Cancer Research Consortium (TBCRC) 022's cohort 4, we examined the efficacy of neratinib plus T-DM1 in patients with HER2-positive BCBM. PATIENTS AND METHODS: In this multicenter, phase II study, patients with measurable HER2-positive BCBM received neratinib 160 mg daily plus T-DM1 3.6 mg/kg intravenously every 21 days in three parallel-enrolling cohorts [cohort 4A-previously untreated BCBM, cohorts 4B and 4C-BCBM progressing after local CNS-directed therapy without (4B) and with (4C) prior exposure to T-DM1]. Cycle 1 diarrheal prophylaxis was required. The primary endpoint was the Response Assessment in Neuro-Oncology-Brain Metastases (RANO-BM) by cohort. The overall survival (OS) and toxicity were also assessed. RESULTS: Between 2018 and 2021, 6, 17, and 21 patients enrolled in cohorts 4A, 4B, and 4C. Enrollment was stopped prematurely for slow accrual. The CNS objective response rate in cohorts 4A, 4B, and 4C was 33.3% [95% confidence interval (CI) 4.3% to 77.7%], 35.3% (95% CI 14.2% to 61.7%), and 28.6% (95% CI 11.3% to 52.2%), respectively; 38.1%-50% experienced stable disease for ≥6 months or response. Diarrhea was the most common grade 3 toxicity (22.7%). The median OS was 30.2 [cohort 4A; 95% CI 21.9-not reached (NR)], 23.3 (cohort 4B; 95% CI 17.6-NR), and 20.9 (cohort 4C; 95% CI 14.9-NR) months. CONCLUSIONS: We observed intracranial activity for neratinib plus T-DM1, including those with prior T-DM1 exposure, suggesting synergistic effects with neratinib. Our data provide additional evidence for neratinib-based combinations in patients with HER2-positive BCBM, even those who are heavily pretreated.
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The approach of shortcuts to adiabaticity enables the effective execution of adiabatic dynamics in quantum information processing with enhanced speed. Owing to the inherent trade-off between dynamical speed and the cost associated with the transitionless driving field, executing arbitrarily fast operations becomes impractical. To understand the accurate interplay between speed and energetic cost in this process, we propose theoretically and verify experimentally a new trade-off, which is characterized by a tightly optimized bound within s-parametrized phase spaces. Our experiment is carried out in a single ultracold ^{40}Ca^{+} ion trapped in a harmonic potential. By exactly operating the quantum states of the ion, we execute the Landau-Zener model as an example, where the quantum speed limit as well as the cost are governed by the spectral gap. We witness that our proposed trade-off is indeed tight in scenarios involving both initially eigenstates and initially thermal equilibrium states. Our work helps understanding the fundamental constraints in shortcuts to adiabaticity and illuminates the potential of underutilized phase spaces that have been traditionally overlooked.
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AIM: To investigate the feasibility of a radiomics nomogram model for predicting malignant transformation in sinonasal inverted papilloma (IP) based on radiomic signature and clinical risk factors. MATERIALS AND METHODS: This single institutional retrospective review included a total of 143 patients with IP and 75 patients with IP with malignant transformation to squamous cell carcinoma (IP-SCC). All patients underwent surgical pathology and had preoperative magnetic resonance imaging (MRI) and computed tomography (CT) sinus studies between June 2014 and February 2022. Radiomics features were extracted from contrast-enhanced T1-weighted images (CE-T1WI), T2-weighted images (T2WI), and apparent diffusion coefficient (ADC) maps. The least absolute shrinkage and selection operator (LASSO) were performed to select the features extracted from the sequences mentioned above. Independent clinical risk factors were identified by multivariate logistic regression analysis. Radiomics nomogram was constructed by incorporating independent clinical risk factors and radiomics signature. Based on discrimination and calibration, the diagnostic performance of the nomogram was evaluated. RESULTS: Twelve radiomics features were selected to develop the radiomics model with an area under the curve (AUC) of 0.987 and 0.989, respectively. Epistaxis (p=0.011), T2 equal signal (p=0.003), extranasal invasion (p<0.001), and loss of convoluted cerebriform pattern (p=0.002) were identified as independent clinical predictors. The radiomics nomogram model showed excellent calibration and discrimination (AUC: 0.993, 95% confidence interval [CI]: 0.985-1.00 and 0.990, 95% CI: 0.974-1.00) in the training and validation sets, respectively. CONCLUSION: The nomogram that the combined radiomics signature and clinical risk factors showed a satisfactory ability to predict IP-SCC.
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Neoplasias de Cabeça e Pescoço , Imageamento por Ressonância Magnética Multiparamétrica , Papiloma Invertido , Neoplasias do Sistema Respiratório , Humanos , Nomogramas , Papiloma Invertido/diagnóstico por imagem , Radiômica , Imageamento por Ressonância Magnética/métodos , Estudos RetrospectivosRESUMO
AIM: To assess the performance of diffusion-relaxation correlation spectrum imaging (DR-CSI) in the characterization of parotid gland tumors. MATERIALS AND METHODS: Twenty-five pleomorphic adenomas (PA) patients, 9 Warthin's tumors (WT) patients and 7 malignant tumors (MT) patients were prospectively recruited. DR-CSI (7 b-values combined with 5 TEs, totally 35 diffusion-weighted images) was scanned for pre-treatment assessment. Diffusion (D)-T2 signal spectrum summating all voxels were built for each patient, characterized by D-axis with range 0â¼5 × 10-3 mm2/s, and T2-axis with range 0â¼300ms. With boundaries of 0.5 and 2.5 × 10-3 mm2/s for D, all spectra were divided into three compartments labeled A (low D), B (mediate D) and C (high D). Volume fractions acquired from each compartment (VA, VB, VC) were compared among PA, WT and MT. Diagnostic performance was assessed using receiver operating characteristic analysis and area under the curve (AUC). RESULTS: Each subtype of parotid tumors had their specific D-T2 spectrum. PA showed significantly lower VA (8.85 ± 4.77% vs 20.68 ± 10.85%), higher VB (63.40 ± 8.18% vs 43.05 ± 7.16%), and lower VC (27.75 ± 8.51% vs 36.27 ± 11.09) than WT (all p<0.05). VB showed optimal diagnostic performance (AUC 0.969, sensitivity 92.00%, specificity 100.00%). MT showed significantly higher VA (21.23 ± 12.36%), lower VB (37.09 ± 6.43%), and higher VC (41.68 ± 13.72%) than PA (all p<0.05). Similarly, VB showed optimal diagnostic performance (AUC 0.994, sensitivity 96.00%, specificity 100.00%). No significant difference of VA, VB and VC was found between WT and MT. CONCLUSIONS: DR-CSI might be a promising and non-invasive way for characterizing parotid gland tumors.
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Adenolinfoma , Adenoma Pleomorfo , Imagem de Difusão por Ressonância Magnética , Neoplasias Parotídeas , Humanos , Neoplasias Parotídeas/diagnóstico por imagem , Neoplasias Parotídeas/patologia , Masculino , Feminino , Pessoa de Meia-Idade , Imagem de Difusão por Ressonância Magnética/métodos , Adulto , Idoso , Adenoma Pleomorfo/diagnóstico por imagem , Adenoma Pleomorfo/patologia , Estudos Prospectivos , Adenolinfoma/diagnóstico por imagem , Glândula Parótida/diagnóstico por imagem , Glândula Parótida/patologia , Sensibilidade e Especificidade , Idoso de 80 Anos ou maisRESUMO
PURPOSE: Noise exposure in the workplace has been linked to a number of health consequences. Our objectives were to explore the relationship between occupational noise and lipid metabolism and evaluate the possible mediating effect of obesity indices in those relationships with a cross-sectional study design. METHODS: Cumulative noise exposure (CNE) was used to measure the level of noise exposure. Logistic regression models or generalized linear models were employed to evaluate the association of occupational noise and obesity with lipid metabolism markers. Cross-lagged analysis was conducted to explore temporal associations of obesity with lipid metabolism. RESULTS: A total of 854 participants were included, with each one-unit increase in CNE, the values of total cholesterol/high-density lipoprotein cholesterol and low-density lipoprotein cholesterol/high-density lipoprotein cholesterol increased by 0.013 (95% confidence interval: 0.006, 0.020) and 0.009 (0.004, 0.014), as well as the prevalence of dyslipidemia increased by 1.030 (1.013, 1.048). Occupational noise and lipid metabolism markers were all positively associated with body mass index (BMI), waist circumference (WC), a Body Shape Index (ABSI) and a Body Shape Index and Body Roundness Index (BRI) (all P < 0.05). Moreover, BMI, WC, ABSI and BRI could mediate the associations of occupational noise with lipid metabolism; the proportions ranged from 21.51 to 24.45%, 23.84 to 30.14%, 4.86 to 5.94% and 25.59 to 28.23%, respectively (all P < 0.05). CONCLUSIONS: Our study demonstrates a positive association between occupational noise and abnormal lipid metabolism, and obesity may partly mediate the association. Our findings reinforce the need to take practical steps to reduce or even eliminate the health risks associated with occupational noise.
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OBJECTIVES: To investigate the independent impacts of adverse childhood experiences (ACEs) and positive childhood experiences (PCEs) on the health-related quality of life (HRQOL) of Chinese adolescents, and to explore the potential moderating role of PCEs in the association between ACEs and HRQOL. STUDY DESIGN: This was a cross-sectional study. METHODS: We surveyed 6982 students aged 11-20 in Guangzhou, China, from November to December 2021. Adolescents self-reported their ACEs, PCEs, and HRQOL by the Childhood Trauma Questionnaire Short Form, the Adverse Childhood Experiences-International Questionnaire, the Benevolent Childhood Experiences Scale, and the Paediatric Quality of Life Inventory Version 4.0, respectively. Multivariable linear regressions were performed to examine the associations between ACEs, PCEs, and HRQOL controlled for adolescents' age, gender, single-child status, boarding school attendance, primary caregivers, as well as parental age and occupational status. Likelihood-ratio tests were further applied to explore the moderating role of PCEs. RESULTS: In the models that considered both ACEs and PCEs, ACEs were significantly associated with lower HRQOL scores in all dimensions, summary scales, and total scale (ß = -13.88, 95% confidence interval [CI]: -14.82, -12.94 for total scale). Conversely, exposure to an above-average number of PCEs was associated with higher HRQOL scores in all measured aspects (ß = 7.20, 95%CI: 6.57, 7.84 for total scale). PCEs significantly moderated the association between ACEs and all HRQOL dimensions, summary scales, and total scale, except school functioning. CONCLUSION: ACEs and PCEs exert independent and opposite impacts on adolescents' HRQOL. PCEs could mitigate the negative impacts of ACEs. Enhancing resilience, like PCEs, may contribute to improving the HRQOL among adolescents who have exposed to ACEs.
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Identidade de Gênero , Testes Psicológicos , Qualidade de Vida , Humanos , Adolescente , Estudos Transversais , AutorrelatoRESUMO
OBJECTIVES: Access to health services has received increasing attention, and the International Agency for Research on Cancer (IARC) includes 'availability' as one of the indicators to evaluate cancer screening. Evaluating, monitoring, and decision-making on cancer screening depends on systematic quantitative evidence on access to cancer screening, but indicators are currently inconsistently, if they are reported at all. This can be improved by developing systematic indicators for evaluating and reporting access to cancer screening. This requires a thorough understanding of current indicators of access to cancer screening. STUDY DESIGN: Scoping review. METHODS: We completed a scoping review of studies on access to cancer screening services from 2013 to 2022. The relevant indicators were extracted, quantified, and then matched to two widely used frameworks: a universal five-dimensional conceptual framework for access to healthcare ('U5D') and a cancer-specific framework/list on the availability/use of screening indicators endorsed by the IARC. RESULTS: A total of 331 studies on access to cancer screening services were included. Based on the U5D framework, publications from supply side reported approachability (number of publications = 16), acceptability (6), availability and accommodation (44), affordability (30), and appropriateness (11); among this process, 17 sub-indicators were identified. Correspondingly, publications from demand side reported ability to perceive (170), ability to seek (85), ability to reach (58), ability to pay (59), and ability to engage (2); 26 sub-indicators were identified. More macroscopically, the publications of the IARC-endorsed indicators reported availability of policies and guidelines for screening (13), type of screening provided (3), extent of population coverage and participation rates (76), and demographic/behavioural related considerations (167). By integrating the universal and cancer-specific frameworks, a new adapted framework was proposed. CONCLUSIONS: This study identified and collated indicators for evaluating access to cancer screening services, and determined the gaps in the current application of various indicators. The findings are anticipated to facilitate further development of an evaluation indicator system for access to cancer screening services.
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BACKGROUND: Elevated body mass index (BMI) has been recognized as an important contributor to corticosteroid insensitivity in chronic rhinosinusitis with nasal polyps (CRSwNP). We aimed to delineate the effects of elevated BMI on immunological endotype and recurrence in CRSwNP individuals. METHODOLOGY: A total of 325 patients with CRSwNP undergoing FESS were recruited and stratified by BMI. H&E staining was employed for histological evaluation. Characteristics of inflammatory patterns were identified by immunohistochemical staining. The predictive factors for recurrence were determined and evaluated by multivariable logistic regression analysis and the receiver operating characteristic (ROC) curves across all subjects and by weight group. RESULTS: In all patients with CRSwNP, 26.15% subjects were classified as overweight/obese group across BMI categories and exhibited a higher symptom burden. The upregulated eosinophil/neutrophil-dominant cellular endotype and amplified type 2/ type 3 coexisting inflammation was present in overweight/obese compared to underweight/normal weight controls. Additionally, a higher recurrent proportion was shown in overweight/obese patients than that in underweight/normal weight cohorts. Multivariable logistic regression analysis identified BMI as an independent predictor for recurrence. The predictive capacity of each conventional parameter (tissue eosinophil and CLCs count, and blood eosinophil percentage) alone or in combination was poor in overweight/obese subjects. CONCLUSIONS: Overweight/obese CRSwNP stands for a unique phenotype and endotype. Conventional parameters predicting recurrence are compromised in overweight/obese CRSwNP, and there is an urgent need for novel biomarkers that predict recurrence for these patients.
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Índice de Massa Corporal , Eosinófilos , Pólipos Nasais , Obesidade , Recidiva , Rinite , Sinusite , Humanos , Pólipos Nasais/patologia , Pólipos Nasais/complicações , Sinusite/patologia , Rinite/patologia , Masculino , Feminino , Pessoa de Meia-Idade , Doença Crônica , Obesidade/complicações , Adulto , Sobrepeso/complicaçõesRESUMO
1. Male and female Chukar partridges are difficult to differentiate based on their morphology or by the Chromobox-Helicase-DNA binding (CHD) during early growth.2. The current study developed a novel, simple, low-cost and rapid sexing protocol for Chukar partridges based on the newly defined sexing gene ubiquitin-associated protein 2 (UBAP2).3. The length of polymorphism between UBAP2-W and UBAP2-Z homologous genes allows for easy sex discrimination in this species. Molecular sexing analysis was based on the simultaneous amplification of both genes, resulting in two distinct amplicons (947 bp and 535 bp) in heterogametic females and only a single band (535 bp) in homogametic males, which is easy to detect with agarose gel electrophoresis.4. This technique is simple and convenient for genetic sex determination in Chukar partridges.
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Primers do DNA , Galliformes , Análise para Determinação do Sexo , Animais , Feminino , Galliformes/genética , Análise para Determinação do Sexo/veterinária , Análise para Determinação do Sexo/métodos , Masculino , Primers do DNA/genética , Proteínas Aviárias/genética , Proteínas Aviárias/metabolismo , Polimorfismo Genético , Reação em Cadeia da Polimerase/veterináriaRESUMO
Echinococcosis poses a significant threat to public health. The Chinese government has implemented prevention and control measures to mitigate the impact of the disease. By analyzing data from the Chinese Center for Disease Control and Prevention and the State Council of the People's Republic of China, we found that implementation of these measures has reduced the infection rate by nearly 50% between 2004 to 2022 (from 0.3975 to 0.1944 per 100,000 person-years). Nonetheless, some regions still bear a significant disease burden, and lack of detailed information limites further evaluation of the effects on both alveolar and cystic echinococcosis. Our analysis supports the continuing implementation of these measures and suggests that enhanced wildlife management, case-based strategies, and surveillance systems will facilitate disease control.
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Equinococose , Humanos , Animais , Estudos Retrospectivos , China/epidemiologia , Equinococose/epidemiologia , Equinococose/prevenção & controle , Animais SelvagensRESUMO
This study aimed to explore the value of magnetic resonance imaging (MRI) T2 mapping in the assessment of dermatomyositis (DM) and polymyositis (PM). Thirty-three confirmed cases (myosin group) and eight healthy volunteers (healthy control group) at the Department of Rheumatology and Immunology, the First Affiliated Hospital of Kunming Medical University, from October 2016 to December 2017, were collected and analyzed. Multiple parameters of the myosin group were quantified, including creatine kinase (CK), erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), complement C3, and complement C4. Disease status was evaluated using a panel of tools: myositis disease activity assessment tool-muscle (MDAAT-muscle), myositis disease activity assessment tool-whole (MDAAT-all), health assessment questionnaire (HAQ), medical outcomes study health survey short form-36 item (SF-36), hand muscle strength test (MMT-8) score, and MRI T2 mapping of muscle (22 muscles in the pelvis and thighs) T2 values. The results showed that in the myositis group, the measurements for CK, ESR, CRP, complement C3, and complement C4 were 457.2 (165.6, 1 229.2) IU/L, 20 (10, 42) mm/1h, 3.25 (2.38, 10.07) mg/L, 0.90 (0.83, 1.06) g/L, and 0.18 (0.14, 0.23) g/L, respectively. The scores for MMT-8, MDAAT-muscle, MDAAT-all, HAQ, and SF-36 were 57.12±16.23, 5.34 (4.00, 6.00), 34.63±12.62, 1.55 (0.66, 2.59), and 44.66±7.98, respectively. T2 values were significantly higher in all 22 muscles of the pelvis and thighs of patients with DM or PM compared with the healthy controls [(54.99±11.60)ms vs. (36.62±1.66)ms, P<0.001], with the most severe lesions in the satrorius, iliopsoas, piriformis, gluteus minimus, and gluteus medius muscles. The total muscle T2 value in the myositis group was positively correlated with CK, MDAAT-muscle, MDAAT-all, and HAQ (r=0.461, 0.506, 0.347, and 0.510, respectively, all P<0.05). There was a negative correlation between complement C4, SF-36, and MMT-8 scores (r=-0.424, -0.549, and -0.686, respectively, all P<0.05). Collectively, the findings from this study suggest that MRI T2 mapping can objectively reflect the disease status of DM and PM.
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Dermatomiosite , Miosite , Polimiosite , Humanos , Dermatomiosite/diagnóstico por imagem , Complemento C3 , Polimiosite/diagnóstico por imagem , Polimiosite/patologia , Miosite/patologia , Proteína C-Reativa/metabolismo , Imageamento por Ressonância Magnética/métodos , Creatina Quinase , Complemento C4 , MiosinasRESUMO
Objective: To verify the predictive value of the Second Revision of the International Staging System (R2-ISS) in newly diagnosed patients with multiple myeloma (MM) who underwent first-line autologous hematopoietic stem cell transplantation (ASCT) in a new drug era in China. Methods: This multicenter retrospective cohort study enrolled patients with newly diagnosed MM from three centers in China (Beijing Chao-Yang Hospital, Capital Medical University; the First Affiliated Hospital, Sun Yat-Sen University, and the Second Affiliated Hospital of Naval Medical University) from June 2008 to June 2018. A total of 401 newly diagnosed patients with MM who were candidates for ASCT were enrolled in this cohort, all received proteasome inhibitor and/or immunomodulator-based induction chemotherapy followed by ASCT. Baseline and follow-up data were collected. The patients were regrouped using R2-ISS. Progression-free survival (PFS) and overall survival (OS) were analyzed. The Kaplan-Meier method was used to analyze the survival curve and two survival curves were compared using the log-rank test. Cox regression analysis were performed to analyze the relationship between risk factors and survival. Results: The median age of the patients was 53 years (range 25-69 years) and 59.5% (240 cases) were men. Newly diagnosed patients with renal impairment accounted for 11.5% (46 cases). According to Revised-International Staging System (R-ISS), 74 patients (18.5 %) were diagnosed with stage â , 259 patients (64.6%) with stage â ¡, and 68 patients (17.0%) with stage â ¢. According to the R2-ISS, the distribution of patients in each group was as follows: 50 patients (12.5%) in stage â , 95 patients (23.7%) in stage â ¡, 206 patients (51.4%) in stage â ¢, and 50 patients (12.5%) in stage â £. The median follow-up time was 35.9 months (range, 6-119 months). According to the R2-ISS stage, the median PFS in each group was: 75.3 months for stage â ; 62.0 months for stage â ¡, 39.2 months for stage â ¢, and 30.3 months for stage â £; and the median OS was not reached, 86.6 months, 71.6 months, and 38.5 months, respectively. There were statistically significant differences in PFS and OS between different groups (both P<0.001). Multivariate Cox regression analysis showed that stages â ¢ and â £ of the R2-ISS were independent prognostic factors for PFS (HR=2.37, 95%CI 1.30-4.30; HR=4.50, 95%CI 2.35-9.01) and OS (HR=4.20, 95%CI 1.50-11.80; HR=9.53, 95%CI 3.21-28.29). Conclusions: The R2-ISS has significant predictive value for PFS and OS for transplant-eligible patients with MM in the new drug era. However, the universality of the R2-ISS still needs to be further verified in different populations.
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Transplante de Células-Tronco Hematopoéticas , Mieloma Múltiplo , Masculino , Humanos , Adulto , Pessoa de Meia-Idade , Idoso , Feminino , Prognóstico , Estudos Retrospectivos , Transplante AutólogoRESUMO
The evolution of critical care medicine is inextricably linked to the development of critical care procedures. These procedures not only facilitate diagnosis and treatment of critically ill patients, but also provide valuable insights into disease pathophysiology. While critical care interventions offer undeniable benefits, the potential for iatrogenic complications necessitates careful consideration. The recent surge in critical care ultrasound (US) utilization is a testament to its unique advantages: non-invasiveness, real-time bedside availability, direct visualization of internal structures, elimination of ionizing radiation exposure, repeatability, and relative ease of learning. Recognizing the need to optimize procedures and minimize complications, critical care utrasound study group of Beijing critical care ultrasound research assocition convened a panel of critical care experts to generate this consensus statement. This document serves as a guide for healthcare providers, aiming to ensure patient safety and best practices in critical care.
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Cuidados Críticos , Ultrassonografia , Humanos , Cuidados Críticos/métodos , Ultrassonografia/métodos , ConsensoRESUMO
Objective: To investigate the application value of fecal Syndecan-2 (SDC2) gene methylated SDC2 (mSDC2) detection in colorectal cancer (CRC) screening among urban residents in Guangzhou City. Methods: A cross-sectional study was conducted in Shitan Town, Zengcheng District, Guangzhou City from July to December 2022. A community-based screening program for CRC was conducted among residents aged 40-74 years old. mSDC2 detection was employed in the participants, and those with positive results should be recommended to receive colonoscopy examination. The positive rate of mSDC2 detection, colonoscopy compliance rate, detection rate of intestinal lesions and clinicopathological characteristics were observed. The relationship between cycle threshold (CT) value of mSDC2 and intestinal lesions was explored. Further, the cost-effectiveness of screening was evaluated. Results: A total of 8 189 fecal samples were collected from 8 877 participants with the recovery rate of 92.25%. 8 048 qualified samples were enrolled in this study, consisted of 3 182 males (39.54%) and 4 866 females (60.46%), with the average age of 56 years old (40-74 years). The positive rate of mSDC2 detection was 7.99% (643/8 048), and the compliance rate of colonoscopy was 73.10% (470/643). 20 cases (4.25%) of colorectal cancer, 109 cases (23.19%) of advanced adenoma, 145 cases (30.85%) of non-advanced adenoma, 79 cases (16.81%) of polyps were detected. The detection rate of intestinal lesions was 75.11% and indicated significant differences in gender and age. 20 CRCs included 15 of stage 0-I, 4 of stage â ¡-â ¢ and 1 of unknown stage. The CT value of mSDC2 was negatively correlated with the proportion of advanced colorectal neoplasms (χ2=16.063, P<0.001). The total cost of the screening was 4.339 5 million yuan, the screening benefit was 28.506 2 million yuan, and the benefit-cost ratio was 6.57. Conclusion: The CRC screening strategy of fecal mSDC2 detection combined with colonoscopy has high colonoscopy compliance and detection rate of intestinal lesions, which is conducive to the detection of early CRCs, and has good cost-effectiveness. This study suggests that this method may be applied to the general CRC screening in China and contribute to the prevention of CRC. The CT value of mSDC2 may have a certain suggestion on the malignant degree of intestinal tumors.
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Colonoscopia , Neoplasias Colorretais , Detecção Precoce de Câncer , Fezes , Sindecana-2 , Humanos , Neoplasias Colorretais/genética , Neoplasias Colorretais/diagnóstico , Pessoa de Meia-Idade , Feminino , Masculino , Estudos Transversais , Detecção Precoce de Câncer/métodos , Fezes/química , Idoso , Adulto , Sindecana-2/genética , Metilação de DNA , China/epidemiologia , Programas de Rastreamento/métodos , População Urbana , Análise Custo-BenefícioRESUMO
The individualized precision management of hereditary pheochromocytoma (PHEO) and paraganglioma (PGL) syndromes (PPGLs) based on molecular diagnosis and molecular subtype is becoming more popular. The newly discovered MAX germline mutation-associated PPGLs are autosomally dominant and rare. To raise awareness and explore the effective management of individual diagnosis and treatment, the relevant literature published between January 2011 and February was systematically reviewed. There were a total of 101 patients in the 77 families, involving all 5 exons, containing 44 types of MAX germline mutations and mostly concentrated in exons 3 and 4 (64.4%), the main mutations were nonsense mutations and missense mutations (72.3%), and some were large fragment deletions or insertions, intron variant, gene fusion mutations were relatively infrequent. Furthermore, about 10% of the patients had a paternal parent-of-origin effect. Among the 101 patients, 96 (95.0%) developed PHEO including 15 metastatic PHEO, 61 bilateral PHEO and 35 unilateral PHEO. The age of diagnosis was (31.7±10.9) years (range: 13 to 80 years). The male to female ratio was 1.2â¶1. Eleven were accompanied with chest and abdominal PGL. Eight (7.9%) were accompanied by functional pituitary adenoma. And 12 (11.9%) developed other neuroendocrine tumors (NET), of which 8 were accompanied by PHEO, including 4 hyperparathyroidism, 1 gangliocytoma and neuroblastoma, 1 pancreatic NET, 1 medullary thyroid carcinoma and 1 C cell hyperplasia. Six presented concomitant non-NET, including 1 tongue squamous cell carcinoma, 1 papillary thyroid carcinoma, 1 prostate cancer, 1 renal oncocytoma, 1 breast cancer with renal oncocytoma, and 1 thoracic chondrosarcoma with multifocal adenocarcinoma of lung. The remaining 5 cases (5.0%), including 4 other NET (2 ganglioblastoma, 1 abdominal neuroblastoma and 1 pancreatic NET) and 1 asymptomatic child, did not present PHEO. The MAX germline mutation may cause a novel multiple endocrine neoplasia, which can be described as type 5. A comprehensive baseline assessment of neural crest cell-derived diseases such as PPGL, pituitary adenoma, hyperparathyroidism, and/or gangliocytoma (neuroblastoma) was recommended for all people with MAX germline mutations, and the risk of bilateral and/or metastatic PHEO should also be considered. In contrast, patients with PPGLs combined with other NET, such as functional pituitary adenoma, should undergo genetic testing and pedigree screening that includes at least the MAX gene.
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Neoplasias das Glândulas Suprarrenais , Mutação em Linhagem Germinativa , Paraganglioma , Feocromocitoma , Humanos , Feocromocitoma/genética , Paraganglioma/genética , Neoplasias das Glândulas Suprarrenais/genética , Neoplasias das Glândulas Suprarrenais/diagnóstico , Fatores de Transcrição de Zíper de Leucina e Hélice-Alça-Hélix Básicos/genética , Masculino , FemininoRESUMO
The etiology of pneumoconiosis is relatively clear, but the pathogenic mechanism is not fully understood, and there is no effective cure for pneumoconiosis. Clarifying the pathogenesis of pneumoconiosis and exploring relevant markers can help screen high-risk groups of dust exposure, and relevant markers can also be used as targets to intervene in the process of pulmonary fibrosis. The in-depth development of genomics, transcriptomics and proteomics has provided a new way to discover more potential markers of pneumoconiosis. In the future, the combination of multi-omics and multi-stage interactive analysis can systematically and comprehensively identify key genes (proteins) , metabolites and metabolic pathways in the occurrence and development of pneumoconiosis, build a core regulatory network, and then screen out sensitive markers related to early diagnosis and treatment of pneumoconiosis. This article summarizes the research progress of pneumoconiosis markers from the perspective of multi-omics, hoping to provide more basic data for the early prevention and diagnosis of pneumoconiosis, pathogenesis research, and therapeutic intervention.
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Biomarcadores , Genômica , Pneumoconiose , Proteômica , Pneumoconiose/diagnóstico , Pneumoconiose/metabolismo , Biomarcadores/metabolismo , Humanos , MultiômicaRESUMO
The study aimed to reveal for the first time the clinical characteristics, nutritional and metabolic status and support of hospitalized patients with common variant immunodeficiency disease (CVID), and provide reference to improve the long-term nutritional management for such patients. This is a retrospective cross-sectional study. Through searching the electronic medical record system of Peking Union Medical College Hospital, the study included 33 consecutive in-patients with CVID diagnosed in Jan 2016 to Jun 2021, with the male to female ratio of 16â¶17. All their medical data, nutritional assessment and intervention retrospectively summarized and analyzed. Data with normal distribution were described using (x¯±s), and analyzed with independent sample t-test. Data with non-normal distribution were compared with non-parametric test. The results showed that the median onset-age of the included patients was 22 (10.0,36.5) years old, and the median duration was 9.0 (2.0,16.0) years. All patients had recurrent infections involving various systems (33/33), with development of autoimmune diseases (8/33) and lymphoproliferative disease or malignancy (9/33) in some cases among them. The nutritional risk screening 2002 (NRS 2002) scores revealed that 85.19% of adults had an NRS 2002≥3 points, and 33.33% of children had a BMI-for-age z score<-2. Weight loss occurred in 66.67% of patients (22/33), while 87.88% (29/33), 69.70% (23/33) and 81.82% (27/33) of patients respectively had anemia, hypoalbuminemia and decreased prealbumin. Among 22 patients with micronutrients status evaluated, 77.27% (17/22), 22.73% (5/22) and 31.82% (7/22) of patients respectively had lowered serum iron, folate deficiency and vitamin B12 insufficiency. Six patients underwent 25-OH-VD3 measurement, and were all testified to have vitamin D deficiency. Among all patients with nutritional risk, 56.00% of them underwent nutritional support: oral nutritional supplements (14 cases), enteral feeding (4 cases) and parenteral nutrition (5 cases). In conclusion, the condition of malnutrition was prevalent in patients with CVID, but was under-recognized and undertreated to some degree.
Assuntos
Imunodeficiência de Variável Comum , Desnutrição , Adulto , Criança , Humanos , Feminino , Masculino , Estado Nutricional , Estudos Retrospectivos , Estudos TransversaisRESUMO
Objective: To study the regulatory effect of miR-200a on mesenchymal-epithelial transition factor (MET) and its impact on the biological behavior of hepatoma carcinoma cells. Method: A luciferase reporter assay was used to determine miR-200a's regulatory impact on MET. Human hepatoma HepG2 cells were divided into a control group, a miR-200a group, a MET overexpression group, and a co-transfection group (miR-200a+MET). After culture, cell proliferation ability, cell migration ability, apoptosis, cell invasion ability, and the expression of MET and apoptosis-related (Bcl-2, Caspase-3, Bax) proteins were detected and observed by cell counting kit-8 (CCK-8), scratch assay, Annexin V-FITC staining, transwell chambers, and western blotting. The two groups were compared using the independent sample t-test. The multiple groups were statistically analyzed using one-way ANOVA. Results: The luciferase experiment showed that miR-200a had target MET. The proliferation rate, number of invasions in cells (55.00 ± 7.21, 85.00 ± 7.94, 164.67 ± 19.22, 104.00± 12.29), scratch healing rate (28.33% ± 5.03%, 61.67% ± 4.04%, 74.67% ± 7.02%, 49.33% ± 9.02%), and expression levels of MET, Bcl-2, and Caspase-3 proteins were lower in the miR-200a group than those in the control group, MET overexpression group, and co-transfection group, while the MET overexpression group had higher indexes than the other three groups, with statistically significant differences between the groups (P <0.05). The apoptosis rate of HepG2 cells and the expression level of Bax protein were higher in the miR-200a group than those in the control group, MET overexpression group, and co-transfection group (19.25% ± 2.98%, 6.80% ± 1.15%, 3.42% ±0.76%, 9.90% ± 2.72%), while the levels of various indexes in the MIF overexpression group were lower than those in the other three groups. The control group and co-transfection group were between the two groups, and the difference between the groups was statistically significant (P <0.05). Conclusion: HepG2 cell proliferation, migration, invasion, and cell apoptosis induction can be inhibited by miR-200a, and the functional mechanism for this may be associated with the miR-200a target's ability to down-regulate MET expression in HepG2 cells.
Assuntos
Carcinoma Hepatocelular , Neoplasias Hepáticas , MicroRNAs , Humanos , Carcinoma Hepatocelular/patologia , MicroRNAs/genética , MicroRNAs/metabolismo , Caspase 3/metabolismo , Linhagem Celular Tumoral , Transição Epitelial-Mesenquimal/fisiologia , Neoplasias Hepáticas/patologia , Luciferases/metabolismo , Proteínas Proto-Oncogênicas c-bcl-2/metabolismo , Proliferação de Células , Movimento Celular , Regulação Neoplásica da Expressão GênicaRESUMO
Trench foot was first seen in World War â and was one of the reasons for non combat attrition. We reviewed and analyzed 15 cases of trench foot admitted from 2010 to 2021, summarized clinical treatment methods and experiences, analyzed the causes, population characteristics, treatment methods, and treatment experiences of trench foot during peacetime, strengthened attention to high-risk groups, and improved the success rate of clinical treatment.