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1.
Nature ; 630(8017): 613-618, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38811737

RESUMO

A large qubit capacity and an individual readout capability are two crucial requirements for large-scale quantum computing and simulation1. As one of the leading physical platforms for quantum information processing, the ion trap has achieved a quantum simulation of tens of ions with site-resolved readout in a one-dimensional Paul trap2-4 and of hundreds of ions with global observables in a two-dimensional (2D) Penning trap5,6. However, integrating these two features into a single system is still very challenging. Here we report the stable trapping of 512 ions in a 2D Wigner crystal and the sideband cooling of their transverse motion. We demonstrate the quantum simulation of long-range quantum Ising models with tunable coupling strengths and patterns, with or without frustration, using 300 ions. Enabled by the site resolution in the single-shot measurement, we observe rich spatial correlation patterns in the quasi-adiabatically prepared ground states, which allows us to verify quantum simulation results by comparing the measured two-spin correlations with the calculated collective phonon modes and with classical simulated annealing. We further probe the quench dynamics of the Ising model in a transverse field to demonstrate quantum sampling tasks. Our work paves the way for simulating classically intractable quantum dynamics and for running noisy intermediate-scale quantum algorithms7,8 using 2D ion trap quantum simulators.

2.
Phys Rev Lett ; 132(17): 171001, 2024 Apr 26.
Artigo em Inglês | MEDLINE | ID: mdl-38728703

RESUMO

Recently a dark matter-electron (DM-electron) paradigm has drawn much attention. Models beyond the standard halo model describing DM accelerated by high energy celestial bodies are under intense examination as well. In this Letter, a velocity components analysis (VCA) method dedicated to swift analysis of accelerated DM-electron interactions via semiconductor detectors is proposed and the first HPGe detector-based accelerated DM-electron analysis is realized. Utilizing the method, the first germanium based constraint on sub-GeV solar reflected DM-electron interaction is presented with the 205.4 kg·day dataset from the CDEX-10 experiment. In the heavy mediator scenario, our result excels in the mass range of 5-15 keV/c^{2}, achieving a 3 orders of magnitude improvement comparing with previous semiconductor experiments. In the light mediator scenario, the strongest laboratory constraint for DM lighter than 0.1 MeV/c^{2} is presented. The result proves the feasibility and demonstrates the vast potential of the VCA technique in future accelerated DM-electron analyses with semiconductor detectors.

3.
Zhonghua Yi Xue Za Zhi ; 104(2): 132-137, 2024 Jan 09.
Artigo em Zh | MEDLINE | ID: mdl-38186134

RESUMO

Objective: To analyze the clinical characteristics of patients with common cardiovascular diseases (CVD, including hypertension, coronary heart disease, atrial fibrillation, and heart failure) combined with mild cognitive impairment (MCI) and explore the potential risk factors of MCI in patients with CVD. Methods: A total of 2 294 patients with common cardiovascular diseases who met the criteria at Cardiology Medical Center in Beijing Anzhen Hospital, Capital Medical University, from June 1, 2021, to January 5, 2022, were retrospectively included. The patients were divided into the normal cognitive function group (1 107 cases) and the MCI group (1 187 cases). Demographic information and CVD status were collected. The information of cognitive function were collected using the Montreal Cognitive Assessment (MoCA) and the Mini-Mental State Examination (MMSE) scales. The difference between normal cognitive function and MCI were compared and analyzed. The logistic regression analysis was used to explored risk factors of MCI in CVD patients. Results: A total of 2 294 patients aged (60.6±10.4) years were included, among whom there were 29.99% (688 cases) females. Compared with patients in the normal cognitive function group, patients in the MCI group were older [ (57.9±11.4) vs (63.1±8.9) years old, P<0.001], with a higher proportion of women [26.47% (293 cases) vs 33.28% (395 cases), P<0.001]; there was a higher proportion of patients suffering from hypertension in the MCI group [59.62% (660 cases) vs 64.62% (767 cases), P=0.014ï¼½, and more components of CVD [(1.68±0.62) vs (1.74±0.65) components, P=0.017]. The risk factors of MCI in patients with common CVD were increased age, increased depression score, combined with hypertension, and ≥3 common components of CVD, with OR (95%CI) of 1.043 (1.032-1.054), 1.021 (1.004-1.037), 1.151 (1.142-3.439), and 1.137 (1.023-1.797), respectively (all P values <0.05). Increasing education level was observed to be associated with reduced risk of MCI with OR (95%CI) of 0.319 (0.271-0.378) (P<0.05). Conclusions: The incidence of MCI was high in CVD patients. The risk factors of MCI in CVD patients included hypertension and≥3 common components of CVD.


Assuntos
Doenças Cardiovasculares , Disfunção Cognitiva , Hipertensão , Humanos , Feminino , Pessoa de Meia-Idade , Idoso , Estudos Retrospectivos , Hipertensão/epidemiologia , Cognição
4.
Zhonghua Yu Fang Yi Xue Za Zhi ; 58(10): 1548-1555, 2024 Oct 06.
Artigo em Zh | MEDLINE | ID: mdl-39344463

RESUMO

To explore the general clinical features and treatment outcomes of patients with AIDS-related diffuse large B-cell lymphoma (AIDS-DLBCL) and provide a theoretical basis for diagnosis and treatment, survival prognosis, prevention and management of AIDS-DLBCL patients. AIDS-DLBCL patients who received combined antiretroviral therapy (cART) at Changsha First Hospital from January 2017 to January 2020 were selected in this study. The survival curves were plotted using the Kaplan-Meier method, and the Cox proportional hazards regression model was used to analyze the association between AIDS-DLBCL specific variables and progression-free survival and overall survival. Correlation analysis was conducted based on the clinical features of the patients. A total of 50 AIDS-DLBCL patients were included. Their median age (Q1, Q3) was 52 (44, 59) years, of whom 46 (92%) were male. About 20 (40%) patients received treatment with cyclophosphamide, doxorubicin, vincristine, and prednisone (CHOP), while 23 patients (46%) received treatment with rituximab combined with cyclophosphamide, doxorubicin, vincristine, and prednisone (RCHOP). Survival curve analysis showed that the 2-year progression-free survival rate and overall survival rate of AIDS-DLBCL patients were 56.9% and 61.6%, respectively. Patients with RCHOP protocol combined with EBV-DNA≥1 000 copies/ml had higher progression-free survival rate (χ2=3.844, P=0.043) and overall survival rate (χ2=4.662, P=0.031) than those with CHOP protocol combined with EBV-DNA≥1 000 copies/ml. A multivariate analysis showed that male (HR=2.70, 95%CI:1.10-6.80), EB viral load≥1 000 copies/ml (HR=1.75, 95%CI:1.12-2.84), HIV-RNA≥200 copies/ml (HR=4.64, 95%CI: 1.73-12.15), ECOG PS score of 2 to 4 points (HR=3.54, 95%CI:1.62-7.33), and international prognostic index (IPI) score of 3 to 5 points (HR=5.21, 95%CI:1.39-20.14) were at a higher risk of disease progression. Patients with EB viral load≥1 000 copies/ml (HR=0.07, 95%CI:0.05-0.93) on the RCHOP regimen had a small risk of disease progression. Males (HR=2.87, 95%CI:1.65-9.17), EB viral load≥1 000 copies/ml (HR=1.61, 95%CI:4.02-9.36), HIV-RNA≥200 copies/ml (HR=1.19, 95%CI:1.58-2.74), ECOG PS score of 2 to 4 (HR=6.42, 95%CI:2.55-14.33), IPI score of 3 to 5 points (HR=2.78, 95%CI:1.41-12.96) had a high risk of mortality. Patients with EB viral load≥1 000 copies/ml (HR=0.24, 95%CI:0.64-0.90) on the RCHOP regimen had a low risk of mortality. In summary, males, ECOG physical status score of 2 to 4 points, IPI score of 3 to 5 points, EB viral load≥1 000 copies/ml and HIV viral load≥200 copies/ml are risk factors affecting progression-free survival and overall survival of AIDS-DLBCL patients. RCHOP regimen combined with EB viral load≥1 000 copies/ml is a protective factor affecting progression-free survival and overall survival in AIDS-DLBCL patients.


Assuntos
Protocolos de Quimioterapia Combinada Antineoplásica , Ciclofosfamida , Doxorrubicina , Linfoma Difuso de Grandes Células B , Prednisona , Vincristina , Humanos , Masculino , Linfoma Difuso de Grandes Células B/tratamento farmacológico , Linfoma Difuso de Grandes Células B/mortalidade , Pessoa de Meia-Idade , Prognóstico , Feminino , Doxorrubicina/uso terapêutico , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Ciclofosfamida/uso terapêutico , Adulto , Prednisona/uso terapêutico , Vincristina/uso terapêutico , Taxa de Sobrevida , Linfoma Relacionado a AIDS/tratamento farmacológico , Estimativa de Kaplan-Meier , Síndrome da Imunodeficiência Adquirida/tratamento farmacológico , Modelos de Riscos Proporcionais , Intervalo Livre de Progressão
5.
Zhonghua Bing Li Xue Za Zhi ; 53(3): 224-229, 2024 Mar 08.
Artigo em Zh | MEDLINE | ID: mdl-38433048

RESUMO

WHO firstly published the classification of paediatric tumours, in which genetic tumour syndromes were introduced as a separate chapter, covering the clinicopathological features, molecular genetic alterations, and diagnostic criteria of various tumor susceptibility syndromes common in children. This article briefly introduces and interprets 5 hotspot genetic tumour syndromes (neurofibromatosis type 1, naevoid basal cell carcinoma syndrome, von Hippel-Lindau syndrome, familial adenomatous polyposis and xeroderma pigmentosum) based on relevant literature, in order to bring new perspectives and insights to pathologists and clinicians.


Assuntos
Polipose Adenomatosa do Colo , Neoplasias , Criança , Humanos , Neoplasias/genética , Polipose Adenomatosa do Colo/genética , Mutação , Patologistas , Organização Mundial da Saúde
6.
Zhonghua Bing Li Xue Za Zhi ; 53(4): 344-350, 2024 Apr 08.
Artigo em Zh | MEDLINE | ID: mdl-38556817

RESUMO

Objective: To investigate the clinicopathological features, immunophenotype and molecular genetic characteristics of congenital spindle cell/sclerosing rhabdomyosarcoma. Methods: Sixteen cases (including 10 consultation cases) of congenital spindle cell/sclerosing rhabdomyosarcoma diagnosed at the Beijing Children's Hospital, Capital Medical University, Beijing China, from April 2017 to January 2022 were collected. These cases were evaluated for clinical profiles, histomorphological features, immunophenotype and molecular characteristics. Results: Among the 16 patients, 9 were male and 7 were female. Five cases were present during maternal pregnancy and 11 cases were found immediately after birth. The tumors were located in the chest wall, low back, retroperitoneum, extremities or perineum. The tumors consisted of fasciculated spindle-shaped cells with localized mesenchymal sclerosis and vitreous metaplasia. Immunohistochemistry showed that the tumor cells expressed Desmin, Myogenin, MyoD1, SMA, CD56 and ALK to varying degrees, but not other markers such as CD34, CD99, pan-TRK, S-100 and BCOR. FISH analyses with NCOA2 (8q13) and VGLL2 (6q22) gene breakage probes revealed a breakage translocation in chromosome NCOA2 (8q13) in 4 cases (4/11). In the 6 cases subject to sequencing, a mutation at the p.L122R locus of MYOD1 gene was detected in 1 case (1/6). Two cases were examined by electron microscopy, which showed bundle-arranged myofilaments with some primitive myofilament formation. Five cases were resected with simple surgery, 2 cases were biopsied and followed up with observation only, and 9 cases were treated with surgery and adjuvant chemotherapy. Follow-up was available in 12 cases. At the end of the follow-up, 2 of the 12 patients developed local recurrences and 2 patients survived with disease. Conclusions: Congenital spindle cell/sclerosing rhabdomyosarcoma is a rare subtype of congenital rhabdomyosarcoma. It more commonly occurs in the chest, back and lower limbs of infants than other sites. NCOA2/VGLL2 gene fusion seems to be the most common genetic change. Its prognosis is better than other subtypes of rhabdomyosarcoma and those in adolescents and adults with the same subtype. Analysis and summary of its clinicopathological features can help differentiate it from other soft tissue tumors in infants and children and provide the information for appropriate treatments.


Assuntos
Rabdomiossarcoma , Neoplasias de Tecidos Moles , Adulto , Criança , Lactente , Adolescente , Humanos , Masculino , Feminino , Rabdomiossarcoma/genética , Fatores de Transcrição/genética , Neoplasias de Tecidos Moles/patologia , Mutação , Prognóstico
7.
Zhonghua Bing Li Xue Za Zhi ; 53(3): 257-263, 2024 Mar 08.
Artigo em Zh | MEDLINE | ID: mdl-38433053

RESUMO

Objective: To investigate the relationship between 1p/16q loss of heterozygosity (LOH) and 1p gain in Wilms tumor and their clinicopathologic characteristics and prognosis. Methods: A total of 175 Wilms tumor samples received from the Department of Pathology, Beijing Children's Hospital from September 2019 to August 2022 were retrospectively analyzed. The histopathologic type and presence of lymph node involvement were evaluated by two pathologists. The clinical data including patients'gender, age, tumor location, preoperative chemotherapy, and tumor stage were summarized. Fluorescence in situ hybridization (FISH) was done to detect 1p/16q LOH and 1p gain and their correlation with the clinicopathological features and prognosis were analyzed. Results: Among the 175 samples, 86 cases (49.1%) were male and 89 (50.9%) were female. The mean age was (3.5±2.9) years, and the median age was 2.6 years. There were 26 (14.9%) cases with 1p LOH, 28 (16.0%) cases with 16q LOH, 10 (5.7%) cases of LOH at both 1p and 16q, and 53 (30.3%) cases with 1q gain. 1q gain was significantly associated with 1p LOH (P<0.01) and 16q LOH (P<0.01). There were significant differences (P<0.01) between 1q gain, 1p LOH and 16q LOH among different age groups. The rate of 16q LOH in the high-risk histopathological subtype (50.0%) was significantly higher than that in the intermediate-risk subtype (13.6%, P<0.05). The frequency of 1q gain, 1p LOH, and 16q LOH in children with advanced clinical stages (Ⅲ and Ⅳ) was significantly higher than that in children with early clinical stages (Ⅰ and Ⅱ). 1q gain, 1p LOH, and 16q LOH showed no significant correlation with gender, unilateral or bilateral disease, chemotherapy, or lymph node metastasis. The progression-free survival (PFS) time for patients with 1q gain and 1p LOH was significantly shorter than those without these aberrations (P<0.05). Additionally, the PFS time of patients with 16q LOH was slightly shorter than those with normal 16q, although the difference was not statistically significant. Patients with stage Ⅲ to Ⅳ disease exhibiting 1q gain or 1p LOH had a significantly higher relative risk of recurrence, metastasis, and mortality. Conclusions: 1p/16q LOH and 1q gain are associated with age, high-risk histological type, and clinical stage in Wilms tumor. 1q gain and 1p LOH are significantly correlated with the prognosis of Wilms tumor.


Assuntos
Neoplasias Renais , Tumor de Wilms , Criança , Humanos , Feminino , Masculino , Pré-Escolar , Lactente , Hibridização in Situ Fluorescente , Estudos Retrospectivos , Prognóstico , Tumor de Wilms/genética , Aberrações Cromossômicas , Neoplasias Renais/genética , Perda de Heterozigosidade
8.
Zhonghua Jie He He Hu Xi Za Zhi ; 47(6): 576-581, 2024 Jun 12.
Artigo em Zh | MEDLINE | ID: mdl-38858211

RESUMO

Over the past two to three decades, the emergence and re-emergence of new infectious diseases, advances in molecular detection techniques of pathogens, antibiotic resistance, changes in population lifestyle and immune status (including vaccination), and other factors have led to new evolutions in the etiology of community-acquired pneumonia (CAP). (1) Although Streptococcus pneumoniae remains a common pathogen of CAP, it is no longer the leading cause in China and the United States. According to the results of 2 multicenter studies in China in the early 21st century, Streptococcus pneumoniae accounted for 10.3% and 12.0% of adult CAP pathogens, respectively, ranking second. A study on key pathogens of adult CAP in nine cities in mainland China from 2014 to 2019 using real-time quantitative PCR and conventional culture on respiratory and blood specimens showed an overall prevalence of Streptococcus pneumoniae of 7.43%, ranking sixth. However, its ranking varied from third to seventh among the nine cities. (2) Challenges and concerns about viruses have increased. National surveillance of acute respiratory tract infections and epidemiology in China from 2009 to 2019 indicated that the positivity rates for viral infections in adult pneumonia was 20.5%. These rates were similar to the results of the CDC's CAP pathogen study in the United States, although the rankings were different (viruses ranked second in China and first in the United States). Over the past 20 years, the emergence of new viral respiratory infections caused by mutant strains or zoonotic strains has significantly increased the challenges and threats posed by viral respiratory infections. (3) The role of Mycoplasma pneumoniae (M pneumoniae) in adult CAP and the need for routine empirical antibiotic coverage are controversial. In addition to the influence of epidemic cycles, the prevalence of M pneumoniae is influenced by factors such as age, season, study design, and detection methods, and geographical distribution is also an important influencing factor. Although M. pneumoniae ranks first among CAP pathogens in mainland China (11.05%), there are significant regional differences. In Beijing, Xi'an, and Changchun M. pneumoniae ranks first, while in Harbin, Nanjing, and Fuzhou it ranks second to sixth. In Wuhan, Shenzhen, and Chengdu M. pneumoniae ranks after the tenth position. Available evidence supports the notion that routine coverage of M. pneumoniae is not necessary for empirical treatment of CAP, except in severe cases. In regions with a high prevalence of M. pneumoniae, the decision to cover atypical pathogens in patients with mild to moderate CAP should be based on local data and individualized. (4) CAP caused by multidrug-resistant bacteria, especially multidrug-resistant Gram-negative bacilli (GNB), has become a concern. According to a systematic review of Chinese literature, Klebsiella pneumoniae accounted for 8.12% of adult CAP patients, ranking fifth, and Pseudomonas aeruginosa accounted for 4.7% (ninth). The China Antimicrobial Resistance Surveillance System (CARSS) reported an average resistance rate of 27.7% for Klebsiella pneumoniae to third-generation cephalosporins and a resistance rate of 10.0% to carbapenems in 2021. The average resistance rate of Pseudomonas aeruginosa to carbapenems was 16.6%. Early empirical treatment should consider predicting the resistance profile using a "locally validated risk factor" scoring system. (5) Co-infections are common but under-reported. The development of non-culture detection techniques over the past 40 years has significantly increased the detection rate of respiratory pathogens, especially viruses, leading to an increasing number of reports of bacterial-viral co-infections in CAP. It has been reported that co-infections account for 39% of severe CAP cases on ventilators in the ICU. Currently, there is inconsistency and confusion regarding the definition and concept of co-infection, the choice of detection techniques, and the differentiation between co-detection and co-infection. Many reports of co-infections in COVID-19 lacked pathogenic evidence, and some even listed "effective antibiotic treatment" as one of the diagnostic criteria for viral-bacterial co-infections, suggesting to some extent an overuse of antibiotics in COVID-19. Due to the diverse etiological spectrum of CAP between regions in the recent years, it is challenging to develop unified guidelines for the management of CAP in large countries. This article provides recommendations for the development of local guidelines for the diagnosis and treatment of CAP.


Assuntos
Infecções Comunitárias Adquiridas , Streptococcus pneumoniae , Humanos , Infecções Comunitárias Adquiridas/microbiologia , Infecções Comunitárias Adquiridas/epidemiologia , Infecções Comunitárias Adquiridas/etiologia , Adulto , Mycoplasma pneumoniae , Pneumonia/microbiologia , Pneumonia/etiologia , Farmacorresistência Bacteriana Múltipla , Coinfecção , China/epidemiologia , Antibacterianos/uso terapêutico
9.
Zhonghua Yan Ke Za Zhi ; 60(6): 503-510, 2024 Jun 11.
Artigo em Zh | MEDLINE | ID: mdl-38825949

RESUMO

Objective: To evaluate the efficacy of sutureless intrascleral intraocular lens (IOL) fixation with the modified Yamane technique. Methods: It was a retrospective case series study. Patients undergoing sutureless intrascleral IOL fixation with the modified Yamane technique were included at Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University from January 2022 to September 2023. Uncorrected visual acuity (UCVA) and best-corrected visual acuity (BCVA), recorded as the logarithm of the minimum angle of resolution (logMAR), were measured before surgery and at 1 day, 3 days, 1 week, 1 month, and 3 months postoperatively. Refractive error and intraocular pressure were also checked. Anterior segment examination with a slit lamp microscope, fundus examination, anterior segment and posterior segment optical coherence tomography were performed. Intraoperative and postoperative ocular complications were documented. Results: A total of 53 patients (53 eyes) were included in this study, comprising 40 males and 13 females, with a median age of 60 (49, 68) years. Among them, the proportion of a history of trauma was 22.6% (12/53). There was 1 eye with intraoperative vitreous hemorrhage (1.9%). All eyes had no obvious hypotony, no obvious inflammation in the anterior chamber, and no pupillary abnormalities at 1 week after surgery. The mean follow-up time was (8.0±3.3) months (range, 3 to 16 months). There was no iris capture, re-dislocation, or haptic exposure of the IOL during the follow-up. The corneal endothelial cell density was (2 236±704) cells/mm2 preoperatively and (1 964±628) cells/mm2 at 1 month, with significant difference (P<0.001). The UCVA (logMAR) was 1.53±0.75 preoperatively, 0.18±0.17 at 1 month, 0.15±0.14 at 3 months, and 0.14±0.13 at the final visit (P<0.001). The UCVA (logMAR) at 1 month was significantly different from that at 3 months and the final visit (both P<0.05). At 1 month, 50.9% (27/53) of the eyes had an UCVA (logMAR)≤0.1, and the rate was 56.6% (30/53) at 3 months. The BCVA (logMAR) was 0.25±0.21, 0.03±0.06, 0.02±0.06, and 0.02±0.06 before surgery, at postoperative1 month, 3 months, and the final visit, respectively (P<0.001). The BCVA (logMAR) at 1 month was not significantly different from that at 3 months and the final visit (both P>0.05). The rate of the eyes with a BCVA (logMAR)≤0 was 81.1% (43/53) at 1 month and 83.0% (44/53) at 3 months. The IOL tilt was (5.18±2.60)° at postoperative 1 month and (5.08±2.48)° at postoperative 3 months, without statistically significant difference (P>0.05). The IOL decentration was (0.35±0.24) mm at postoperative 1 month and (0.32±0.24) mm at postoperative 3 months, without statistically significant difference (P>0.05). Conclusion: Sutureless intrascleral IOL fixation with the modified Yamane technique is simpler and more minimally invasive to achieve a stable and centered IOL implantation with fewer complications and good visual prognosis.


Assuntos
Implante de Lente Intraocular , Lentes Intraoculares , Humanos , Pessoa de Meia-Idade , Masculino , Feminino , Estudos Retrospectivos , Idoso , Implante de Lente Intraocular/métodos , Esclera/cirurgia , Acuidade Visual , Procedimentos Cirúrgicos sem Sutura/métodos
10.
Zhonghua Xin Xue Guan Bing Za Zhi ; 52(9): 1090-1100, 2024 Sep 24.
Artigo em Zh | MEDLINE | ID: mdl-39290000

RESUMO

Objective: To explore the effects of canagliflozin on cardiac function and its regulation of ferroptosis in rats with heart failure with preserved ejection fraction (HFpEF). Methods: Thirty-two 7-week-old Dahl salt-sensitive rats were selected and randomly divided into four groups: the control group (fed with low-salt diet), the HFpEF group (fed with high-salt diet), the canagliflozin 20 group (fed with high-salt diet and 20 mg·kg-1·d-1 canagliflozin), and the canagliflozin 30 group (fed with high-salt diet and 30 mg·kg-1·day-1 canagliflozin). Body weight and blood pressure of the rats in each group were monitored. Metabolic cage tests were conducted at the10th week of the experiment, and echocardiography was performed at the 12th week, after which the rats were killed. Blood and left ventricular samples were collected. HE staining, Masson staining, Prussian blue iron staining, and reactive oxygen species staining were performed to observe the cardiomyocyte size and shape, degree of interstitial fibrosis, iron staining, reactive oxygen species production under optical microscope. The ultrastructure of cardiomyocytes was observed under electron microscope. Western blotting and real-time fluorescent quantitative reverse transcription polymerase chain reaction (RT-qPCR) were used to detect the expression levels of proteins and mRNA related to ferroptosis in left ventricular myocardial tissue of rats in each group. Results: After 1 week of adaptive feeding, all rats survived. Metabolic cage results showed that compared with control group, rats in the HFpEF group, canagliflozin 20 group and canagliflozin 30 group had more food intake, water intake and urine output, and lower body weight (all P<0.05). These changes were more pronounced in canagliflozin 20 group and canagliflozin 30 group than in HFPEF group, and only the body weight at the 12th week showed a statistically significant difference between canagliflozin 20 group and canagliflozin 30 group (P<0.05). The blood pressure of 6th week and 12th week, heart weight and left ventricular corrected mass of 12th week of rats in HFpEF group were higher than those in control group, canagliflozin 20 group and canagliflozin 30 group, while the ratio of early mitral valve peak velocity to late mitral valve peak velocity of 12th week was lower (all P<0.05). HE and Masson staining showed that compared to control group, the myocardial fibers in the left ventricular myocardial tissue of rats in HFpEF group were disordered, with larger cell diameter ((0.032±0.004) mm vs. (0.023±0.003) mm, P<0.05), irregular shape, obvious proliferation of interstitial collagen fibers, and higher collagen volume fraction (0.168±0.028 vs. 0.118±0.013, P<0.05). Compared with HFpEF group, rats in the canagliflozin 20 group and canagliflozin 30 had more orderly arranged myocardial fibers, more regular cardiomyocyte shape, smaller cell diameter, and lower collagen volume fraction (P<0.05). It was observed under electron microscopy that, compared to control group, most of the striated muscles in myocardial tissue of HFpEF group were broken, and the Z line and M line could not be clearly distinguished, some changes such as mitochondrial swelling, membrane thickening, cristae reduction or even disappearance occurred. In the canagliflozin 20 group and canagliflozin 30 group, the arrangement of striated muscles in the myocardial tissue of rats tended to be more regular, and the morphological changes of mitochondria were milder. Prussian blue iron staining results showed that the iron content in myocardial tissue of rats in HFpEF group was higher than that in control group, canagliflozin 20 group and canagliflozin 30 group. Reactive oxygen species staining results showed that the reactive oxygen species content in the myocardial tissue of rats in HFpEF group was higher than that of control group, canagliflozin 20 group and canagliflozin 30 group. Biochemical analysis of myocardial tissue showed that Fe2+ and malondialdehyde content in myocardial tissue of rats in HFpEF group were higher than those in control group, canagliflozin 20 group and canagliflozin 30 group, while glutathione content was lower (all P<0.05). Western blot and RT-qPCR detection results showed that compared to control group, rats in HFpEF group had higher expression levels of transferrin receptor 1 (protein relative expression level: 1.37±0.16 vs. 0.31±0.12), acyl-CoA synthetase long-chain family member 4 (protein relative expression level: 1.31±0.15 vs. 0.63±0.09) protein and mRNA, and lower expression levels of ferritin heavy chain 1 (protein relative expression level: 0.45±0.08 vs. 1.41±0.15) protein and mRNA (all P<0.05). There was no statistically significant difference in these indicators between canagliflozin 20 group and the canagliflozin 30 group (all P>0.05). There was no significant difference in levels of glutathione peroxidase 4 protein and mRNA expression in myocardial tissue of rats in four groups(P>0.05). Conclusion: Canagliflozin improves cardiac function in HFpEF rats by regulating the ferroptosis mechanism.


Assuntos
Ferroptose , Miócitos Cardíacos , Ratos Endogâmicos Dahl , Animais , Ratos , Ferroptose/efeitos dos fármacos , Miócitos Cardíacos/efeitos dos fármacos , Miócitos Cardíacos/metabolismo , Insuficiência Cardíaca/tratamento farmacológico , Insuficiência Cardíaca/fisiopatologia , Volume Sistólico/efeitos dos fármacos , Masculino , Modelos Animais de Doenças
11.
Zhonghua Xin Xue Guan Bing Za Zhi ; 52(1): 64-71, 2024 Jan 24.
Artigo em Zh | MEDLINE | ID: mdl-38220457

RESUMO

Objective: To explore the possible anti-atherosclerotic mechanisms of glucose co-transporter-2 inhibitor canagliflozin. Methods: ApoE-/-mice fed on Western diet were randomly assigned into the model group (n=10) and the canagliflozin group (n=10). C57BL/6J mice fed on normal diet were chosen as the control group (n=10). Mice in the canagliflozin group were gavaged with canagliflozin for 14 weeks. The presence and severity of atherosclerosis were evaluated with HE and oil red O stainings in aortic root section slices. PCR assay was performed to determine the mRNA expression levels of nitric oxide synthase. Hepatic transcriptome analysis and hepatic amino acid detection were conducted using RNA-seq and targeted LC-MS, respectively. Results: HE staining and oil red O staining of the aortic root showed that AS models were successfully established in ApoE-/-mice fed on Western diet for 14 weeks. Canagliflozin alleviated the severity of atherosclerosis in pathology. Hepatic transcriptome analysis indicated that canagliflozin impacted on amino acid metabolism, especially arginine synthesis in ApoE-/-mice. Targeted metabolomics analysis of amino acids showed that canagliflozin reduced hepatic levels of L-serine, L-aspartic acid, tyrosine, L-hydroxyproline, and L-citrulline, but raised the hepatic level of L-arginine. Compared to the model group, the canagliflozin group exhibited higher serum arginine and nitric oxide levels as well as elevated nitric oxide mRNA expression in aortic tissues (P<0.05). Conclusion: Canagliflozin regulated the amino acid metabolism, reduced the levels of glucogenic amino acids,and promoted the synthesis of arginine in atherosclerotic mice.


Assuntos
Aterosclerose , Compostos Azo , Placa Aterosclerótica , Camundongos , Animais , Canagliflozina/farmacologia , Canagliflozina/uso terapêutico , Óxido Nítrico , Camundongos Knockout , Camundongos Endogâmicos C57BL , Aterosclerose/tratamento farmacológico , Arginina , Aminoácidos , Apolipoproteínas E , RNA Mensageiro
12.
Artigo em Zh | MEDLINE | ID: mdl-38403416

RESUMO

Objective: To understand the infection status of mycobacterium tuberculosis among health workers in tuberculosis designated medical institutions and explore the risk factors of infection. Methods: From September 2021 to June 2022, a questionnaire survey was conducted among health workers in relevant departments of 4 tuberculosis designated medical institutions by cluster stratified sampling, including the implementation of hospital infection control measures in medical institutions and occupational exposure of medical staff to mycobacterium tuberculosis. Peripheral blood interferon gamma release assays (IGRAs) and lung imaging examination were performed to determine the mycobacterium tuberculosis infection. Factors with statistical significance in univariate analysis were included in multivariate logistic regression to analyze the risk factors of mycobacterium tuberculosis infection. Results: A total of 657 people completed the lung imaging examination and questionnaire, of which 654 people had peripheral blood IGRAs detection, and the latent infection rate of tuberculosis was 39.45% (258/654) . Univariate analysis showed that age, sex, marital status, economic income, occupational category, professional title, length of service, and other variables had statistical significances in tuberculosis latent infection (P<0.05) . In terms of personal health status, there were statistically significant differences in the distribution of health workers in terms of their tuberculosis history, tuberculosis history of their immediate family members, previous tuberculin skin test (TST) (P<0.05) . Multivariate analysis showed that there were four risk factors related to tuberculosis, including professional title (X(1)) , years of tuberculosis related works (X(2)) , tuberculosis history (X(3)) and previous TST (X(4)) . The regression equation of the probability of tuberculosis among health workers was y=-1.920+0.246X(1)+0.046X(2)+1.231X(3)+0.478X(4). Conclusion: The latent infection rate of tuberculosis among health workers in tuberculosis designated medical institutions is high. It is necessary to strengthen the management of infection control, carry out regular screening, enhance the self-protection awareness of health workers, and reduce their exposure to mycobacterium tuberculosis and infection risk.


Assuntos
Tuberculose Latente , Mycobacterium tuberculosis , Tuberculose , Humanos , Tuberculose/epidemiologia , Tuberculose/diagnóstico , Tuberculose Latente/epidemiologia , Tuberculose Latente/diagnóstico , Fatores de Risco , Teste Tuberculínico , Pessoal de Saúde
13.
Georgian Med News ; (351): 100-101, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-39230230

RESUMO

OBJECTIVE: The aim of the study was to explore the effect of Xiaoyao Pills combined with alendronate on bone density in postmenopausal patients with osteoporosis. METHODS: The data of postmenopausal osteoporosis patients admitted to Taizhou Hospital of Traditional Chinese Medicine from January 2022 to January 2023 were retrospectively collected. According to the treatment method, patients were randomly divided into study group and control group. Finally, 54 cases were selected for each group. The study group was treated with Xiaoyao Pills combined with alendronate sodium, while the control group was treated with alendronate sodium alone. The femoral neck bone density of the two groups of patients was observed. RESULTS: Compared with before treatment, the bone mineral density of both groups of patients increased significantly 6 months and 12 months after treatment (P<0.05). Comparing the bone density of the two groups of patients before treatment, the difference was not statistically significant [(0.58±0.06) g/ cm² vs. (0.60±0.08) g/cm², P=0.486]. Compared with the control group, the bone density of the study group increased significantly after 6 months of treatment [(0.69±0.08)g/cm² vs. (0.60±0.08)g/cm²]. CONCLUSION: Xiaoyao Pills combined with alendronate can improve bone density in postmenopausal patients with osteoporosis.


Assuntos
Alendronato , Conservadores da Densidade Óssea , Densidade Óssea , Medicamentos de Ervas Chinesas , Osteoporose Pós-Menopausa , Humanos , Alendronato/uso terapêutico , Alendronato/administração & dosagem , Medicamentos de Ervas Chinesas/uso terapêutico , Feminino , Densidade Óssea/efeitos dos fármacos , Osteoporose Pós-Menopausa/tratamento farmacológico , Pessoa de Meia-Idade , Conservadores da Densidade Óssea/uso terapêutico , Idoso , Quimioterapia Combinada , Estudos Retrospectivos , Colo do Fêmur/efeitos dos fármacos , Colo do Fêmur/diagnóstico por imagem
14.
Georgian Med News ; (352-353): 112-117, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39441280

RESUMO

Depression is being recognized worldwide as a serious public health problem. Health problems may affect a college student's quality. Project aims to analyze the effects of physical activity on anxiety and depression in university student. METHODS: This study employed cross-sectional, self-reported survey methodology. A sample of 2008 student completed a test that included social-demographic data, GAD-7, PHQ-9, IPAQ and EAT-26.GAD-7 was assessed using the anxiety questionnaire (range 0-21, with higher scores indicating more anxiety). PHQ-9 was assessed using the depression questionnaire (range 0-27, with higher scores indicating more depression). Physical activity was assessed using a short version of the International Physical Activity Questionnaire (IPAQ), which is divided into three levels: low, moderate and high levels of physical activity. Eating attitude test-26(EAT-26) is widely used screening instruments for disordered eating attitudes (Scores 20 or above was defined as disordered eating attitude). The data were analyzed by SPSS 20.0 system. RESULTS: There was no significant correlation between depression and anxiety symptoms and child in the family, parents are highly educated, single-parent family and parents are doctors or nurses and other medical staff. The experimental data suggested that mental health was significantly associated with the suffer from domestic or social violence, use cell phones and computers for fun time, low-intensity exercise, high-intensity exercise and eating disorder. CONCLUSION: The thesis concludes that the physical activity was significantly associated with mental health. It is necessary to take measures to reduce anxiety and depression in college students, to improve their understanding of the importance of healthy.


Assuntos
Ansiedade , Depressão , Exercício Físico , Saúde Mental , Estudantes , Humanos , Exercício Físico/psicologia , Estudantes/psicologia , Estudantes/estatística & dados numéricos , Estudos Transversais , Universidades , Feminino , Masculino , Depressão/epidemiologia , Depressão/psicologia , Adulto Jovem , Ansiedade/psicologia , Ansiedade/epidemiologia , Adulto , Inquéritos e Questionários , Adolescente
15.
Georgian Med News ; (351): 167-169, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-39230241

RESUMO

INTRODUCTION: The progression of ferroptosis has been found to be associated with the onset and progression of many diseases. Disruption of iron homeostasis can lead to ferroptosis. We had previously hypothesized that vitamin D may affect serum calcium levels, which in turn regulates ferroptosis by regulating serum iron levels. However, the relationship between serum calcium level and serum iron level is unclear. The purpose of our study was to explore the relationship between serum calcium level and serum iron level among general population in Taizhou, China. METHODS: In this study, a cross-sectional study was conducted. Serum calcium levels and serum iron levels were determined in our work. Pearson's correlation analysis was used to determine the association between serum calcium level and serum iron level. RESULTS: The results showed that serum iron level was negatively correlated with serum calcium level and age. After controlling for age, sex and marital status, serum iron level was still negatively correlated with serum calcium level. CONCLUSIONS: The results suggest that improving serum calcium levels may be a potential strategy for regulating iron metabolism homeostasis. Whether calcium supplementation can reduce serum iron levels in people with low serum calcium levels needs further investigation.


Assuntos
Cálcio , Ferro , Humanos , Cálcio/sangue , Ferro/sangue , Estudos Transversais , Feminino , Masculino , Pessoa de Meia-Idade , Adulto , China , Idoso
16.
J Bone Miner Metab ; 41(2): 163-170, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-36847866

RESUMO

INTRODUCTION: Mouse skeletal stem cells (mSSCs, CD45-Ter119-Tie2-CD51+Thy-6C3-CD105-CD200+population) are identified in growth plates (GP) and play important roles in bone regeneration. However, the role of mSSCs in osteoporosis remains unclear. MATERIALS AND METHODS: The GP were stained by HE staining, and the mSSC lineage was analyzed by flow cytometry at postnatal of 14 days and 30 days in wild-type mice. The mice (8 weeks) were either sham operated or ovariectomy (OVX) and then sacrificed at 2, 4 and 8 w. The GP were stained by Movat staining, and mSSC lineage was analyzed. Then, mSSCs were sorted by fluorescence-activated cell sorting (FACS); the clonal ability, chondrogenic differentiation and osteogenic differentiation were evaluated, and the changed genes were analyzed by RNA-seq. RESULTS: The percentage of mSSCs were decreased with the narrow GP. Heights of GP were decreased significantly in 8w-ovx mice compared with 8w-sham mice. We found the percentage of mSSCs were decreased in mice at 2w after ovx, but the cell numbers were not changed. Further, the percentage and cell numbers of mSSCs were not changed at 4w and 8w after ovx. Importantly, the clonal ability, chondrogenic differentiation and osteogenic differentiation of mSSCs were impaired at 8w after ovx. We found 114 genes were down-regulated in mSSCs, including skeletal developmental genes such as Col10a1, Col2a1, Mef2c, Sparc, Matn1, Scube2 and Dlx5. On the contrary, 526 genes were up-regulated, including pro-inflammatory genes such as Csf1, Nfkbla, Nfatc2, Nfkb1 and Nfkb2. CONCLUSION: Function of mSSCs was impaired by up-regulating pro-inflammatory genes in ovx-induced osteoporosis.


Assuntos
Osteogênese , Osteoporose , Humanos , Feminino , Camundongos , Animais , Osteogênese/genética , Lâmina de Crescimento , Células-Tronco , Diferenciação Celular , Ovariectomia , Proteínas de Ligação ao Cálcio , Proteínas Adaptadoras de Transdução de Sinal
17.
Clin Radiol ; 78(12): 935-946, 2023 12.
Artigo em Inglês | MEDLINE | ID: mdl-37652795

RESUMO

AIM: To compare the diagnostic performance of diffusion-weighted imaging (DWI) and intravoxel incoherent motion (IVIM) parameters, specifically true diffusion coefficient (D), pseudo diffusion coefficient (D∗), and perfusion fraction (f) for quantitatively differentiating benign and malignant renal lesions. MATERIALS AND METHODS: A comprehensive search was conducted in the EMBASE and PubMed databases before September 2022 to identify studies in English investigating the diagnostic accuracy of DWI and IVIM in renal lesions. The quality of the included studies was assessed using the QUADAS-2 tool. Pooled sensitivity, specificity, and area under the curve (AUC) values were estimated for each parameter. RESULTS: A total of 19 studies involving 1,860 renal lesions (1,160 malignant and 700 benign), met the inclusion criteria. Among these studies, 15 assessed the apparent diffusion coefficient (ADC), four assessed IVIM, and three evaluated both ADC and IVIM. The pooled sensitivity, specificity, and AUC for ADC were 0.84 (95% confidence interval [Cl], 0.79-0.88), 0.82 (95% Cl, 0.72-0.89), and 0.89 (95% Cl, 0.86-0.92), respectively. The IVIM parameter with the highest diagnostic accuracy was D, with a pooled sensitivity, specificity, and AUC of 0.89 (95% Cl, 0.74-0.96), 0.96 (95% Cl, 0.85-0.99), and 0.98 (95% Cl, 0.96-0.99), respectively. The pooled sensitivity, specificity and AUC for f were 0.67 (95% Cl, 0.55-0.77), 0.81 (95% Cl, 0.30-0.98), and 0.73 (95% Cl, 0.69-0.77), respectively. The pooled sensitivity, specificity, and AUC for D∗ were 0.87 (95% Cl, 0.81-0.91), 0.59 (95% Cl, 0.48-0.70), and 0.82 (95% Cl, 0.78-0.85), respectively. CONCLUSION: This meta-analysis indicated that both IVIM and DWI had moderate to high diagnostic accuracy for differentiating benign and malignant renal lesions. Among the IVIM parameter, D exhibited the highest diagnostic accuracy, demonstrating higher sensitivity and specificity than ADC, D∗, and f.


Assuntos
Imagem de Difusão por Ressonância Magnética , Humanos , Imagem de Difusão por Ressonância Magnética/métodos , Sensibilidade e Especificidade , Movimento (Física)
18.
J Endocrinol Invest ; 46(11): 2379-2389, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-37071373

RESUMO

OBJECTIVES: Endothelial dysfunction, the earliest vascular alteration, is a consequence of metabolic disorders associated with obesity. However, it is still unclear whether a proportion of obese individuals without metabolic alterations associated with obesity, defined as "metabolically healthy obesity (MHO)", exhibit better endothelial function. We therefore aimed to investigate the association of different metabolic obesity phenotypes with endothelial dysfunction. METHODS: The obese participants without clinical cardiovascular disease from the MESA (Multi-Ethnic Study of Atherosclerosis) were allocated to the different metabolic obesity phenotypes based on their metabolic status, including MHO and metabolically unhealthy obesity (MUO). Associations of metabolic obesity phenotypes with the biomarkers of endothelial dysfunction, including soluble intercellular adhesion molecule-1 (sICAM-1) and soluble E-selectin (sE-selectin), were evaluated using multiple linear regression models. RESULTS: Plasma levels of sICAM-1 and sE-selectin were respectively measured in 2371 and 968 participants. Compared to the non-obese participants, those with MUO were associated with higher concentrations of sICAM-1 (ß 22.04, 95% CI 14.33-29.75, P < 0.001) and sE-selectin (ß 9.87, 95% CI 6.00-13.75, P < 0.001) after adjusting for confounders. However, no differences were found for the concentrations of sICAM-1 (ß 0.70, 95% CI - 8.91 to 10.32, P = 0.886) and sE-selectin (ß 3.69, 95% CI - 1.13 to 8.51, P = 0.133) in the participants with MHO compared to the non-obese participants. CONCLUSIONS: Individuals with MUO were associated with elevated biomarkers of endothelial dysfunction, but the association with endothelial dysfunction was not found in those with MHO, indicating that the individuals with MHO might exhibit better endothelial function.


Assuntos
Síndrome Metabólica , Doenças Vasculares , Humanos , Molécula 1 de Adesão Intercelular/genética , Selectina E/genética , Obesidade/complicações , Fenótipo , Biomarcadores , Fatores de Risco , Índice de Massa Corporal
19.
Zhonghua Yi Xue Za Zhi ; 103(14): 1055-1059, 2023 Apr 11.
Artigo em Zh | MEDLINE | ID: mdl-37032156

RESUMO

Objective: To investigate the effect of information management of intravenous drugs on anemia in maintenance hemodialysis patients. Methods: The information management of intravenous drugs was a management system developed by the Hemodialysis Center of Shanghai Jiao Tong University School of Medicine Affiliated Sixth People's Hospital in April 2020. The parameters six months before and after the use of the information management system were retrospectively collected and compared, including the rate of reaching the standard of hemoglobin, ferritin, transferrin saturation rate and the incidence of cardiovascular events. Specifically, the control stage was from October 2019 to March 2020, which was before the use of information management, and the study stage was from April to September 2020, which was after the use of information management. Results: There were 285 patients (190 males and 95 females) included in the control stage, with an average age of (62.4±13.2) years, while 278 patients (193 males and 85 females) were included in the study stage, with an average age of (62.8±13.2) years. Compared with the control stage, the rate of reaching the standard of hemoglobin [47.8% (797/1 668) vs 40.2% (687/1 710), P<0.001], ferritin [39.0% (217/556) vs 31.2% (178/570), P=0.006], and transferrin saturation [64.7% (360/556) vs 58.6% (334/570), P=0.034] increased in the study stage. The incidence of cardiovascular events in the study stage was 11.2% (31/278), which was significantly lower than that in the control stage [16.5% (47/285)] (P=0.043). Conclusion: The information management of intravenous drugs in the hemodialysis center may help improve the anemia status in maintenance hemodialysis patients.


Assuntos
Anemia , Doenças Cardiovasculares , Falência Renal Crônica , Masculino , Feminino , Humanos , Pessoa de Meia-Idade , Idoso , Estudos Retrospectivos , Falência Renal Crônica/complicações , China , Diálise Renal/efeitos adversos , Ferritinas/uso terapêutico , Hemoglobinas/análise , Hemoglobinas/metabolismo , Hemoglobinas/uso terapêutico , Gestão da Informação , Doenças Cardiovasculares/complicações , Transferrinas
20.
Zhonghua Fu Chan Ke Za Zhi ; 58(10): 766-773, 2023 Oct 25.
Artigo em Zh | MEDLINE | ID: mdl-37849257

RESUMO

Objective: To analyze the report content, the methods and results of prenatal diagnosis of high risk of sex chromosome aneuploidy (SCA) in non-invasive prenatal testing (NIPT). Methods: A total of 227 single pregnancy pregnant women who received genetic counseling and invasive prenatal diagnosis at Drum Tower Hospital Affiliated to the Medical School of Nanjing University from January 2015 to April 2022 due to the high risk of SCA suggested by NIPT were collected. The methods and results of prenatal diagnosis were retrospectively analyzed, and the results of chromosome karyotype analysis and chromosome microarray analysis (CMA) were compared. The relationship between NIPT screening and invasive prenatal diagnosis was analyzed. Results: (1) Prenatal diagnosis methods for 277 SCA high risk pregnant women included 73 cases of karyotyping, 41 cases of CMA and 163 cases of karyotyping combined with CMA, of which one case conducted amniocentesis secondly for further fluorescence in situ hybridization (FISH) testing. Results of invasive prenatal diagnosis were normal in 166 cases (59.9%, 166/277), and the abnormal results including one case of 45,X (0.4%, 1/277), 18 cases of 47,XXX (6.5%, 18/277), 36 cases of 47,XXY (13.0%, 36/277), 20 cases of 47,XYY (7.2%, 20/277), 1 case of 48,XXXX (0.4%, 1/277), 20 cases of mosaic SCA (7.2%, 20/277), 5 cases of sex chromosome structural abnormality or large segment abnormality (1.8%, 5/277), and 10 cases of other abnormalities [3.6%, 10/277; including 9 cases of copy number variation (CNV) and 1 case of balanced translocation]. Positive predictive value (PPV) for SCA screening by NIPT was 34.7% (96/277). (2) Among the 163 cases tested by karyotyping combined with CMA, 11 cases (6.7%, 11/163) showed inconsistent results by both methods, including 5 cases of mosaic SCA, 1 case of additional balanced translocation detected by karyotyping and 5 cases of additional CNV detected by CMA. (3) NIPT screening reports included 149 cases of "sex chromosome aneuploidy"(53.8%, 149/277), 54 cases of "number of sex chromosome increased" (19.5%, 54/277), and 74 cases of "number of sex chromosome or X chromosome decreased" (26.7%, 74/277). The PPV of "number of sex chromosome increased" and "number of sex chromosome or X chromosome decreased" were 72.2% (39/54) and 18.9% (14/74), respectively, and the difference was statistically significant (χ2=34.56, P<0.01). Conclusions: NIPT could be served as an important prenatal screening technique of SCA, especially for trisomy and mosaicism, but the PPV is comparatively low. More information of NIPT such as the specific SCA or maternal SCA might help improving the confidence of genetic counseling and thus guide clinic management. Multi technology platforms including karyotyping, CMA and FISH could be considered in the diagnosis of high risk of SCA by NIPT.


Assuntos
Aneuploidia , Variações do Número de Cópias de DNA , Feminino , Gravidez , Humanos , Estudos Retrospectivos , Hibridização in Situ Fluorescente , Diagnóstico Pré-Natal/métodos , Aberrações dos Cromossomos Sexuais , Cromossomos Sexuais/genética
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