Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 5.455
Filtrar
1.
Zhonghua Nei Ke Za Zhi ; 63(4): 386-393, 2024 Apr 01.
Artigo em Chinês | MEDLINE | ID: mdl-38561284

RESUMO

Objective: To investigate the clinical and electrophysiological characteristics of ANCA-associated vasculitic neuropathy (VN) and analyze the predictors of treatment outcomes. Methods: Retrospective case series. In all, 652 consecutive patients with ANCA-associated vasculitis were admitted to the First Medical Center of the Chinese PLA General Hospital between January 2006 and December 2022. Peripheral neuropathy occurred in 91 patients. Patients were excluded if other known causes of neuropathy were present. Sixty-one patients were eventually enrolled, including 17 with eosinophilic granulomatosis with polyangiitis (EGPA), 11 with granulomatosis polyangiitis (GPA), and 33 with microscopic polyangiitis (MPA). Their clinical data were collected and clinical characteristics, VN manifestations, electrophysiological findings (including interside amplitude ratio [IAR]), and treatment outcomes were compared among the three subsets of AAV. Then, factors influencing the treatment outcomes were analyzed using multivariable logistic regression analysis. Results: Peripheral neuropathy occurred in 62.1%(18/29) of EGPA, 8.3%(15/180) of GPA, and 13.1%(58/443) of MPA patients. The age at onset and examination was higher in patients with MPA than those with EGPA or GPA (P<0.01). The occurrence of VN was later in patients with GPA than those with EGPA (P<0.01), and the GPA group had fewer affected nerves than the other two groups (P<0.016). The abnormal IARs of motor nerves in lower limbs were more detected in the EGPA than the MPA group (P<0.01). Logistic regression analysis suggested that higher Birmingham vasculitis activity score-version 3 (BVAS-V3) (OR=6.85, 95%CI 1.33-35.30) was associated with better treatment outcomes of VN. However, central nervous system involvement was a risk factor for poor treatment outcomes (OR=0.13, 95%CI 0.02-0.89). Conclusions: The clinical and electrophysiological characteristics of VN were slightly different among subsets of AAV. Patients with GPA often presented with polyneuropathy and had fewer nerves affected; mononeuritis multiplex was more common in EGPA than GPA and MPA. Higher BVAS-V3 and central nervous system involvement might predict the treatment outcome of VN.


Assuntos
Vasculite Associada a Anticorpo Anticitoplasma de Neutrófilos , Síndrome de Churg-Strauss , Granulomatose com Poliangiite , Poliangiite Microscópica , Doenças do Sistema Nervoso Periférico , Humanos , Anticorpos Anticitoplasma de Neutrófilos , Granulomatose com Poliangiite/diagnóstico , Síndrome de Churg-Strauss/complicações , Estudos Retrospectivos , Vasculite Associada a Anticorpo Anticitoplasma de Neutrófilos/complicações , Vasculite Associada a Anticorpo Anticitoplasma de Neutrófilos/terapia , Poliangiite Microscópica/complicações , Poliangiite Microscópica/diagnóstico , Resultado do Tratamento , Doenças do Sistema Nervoso Periférico/complicações
2.
Science ; 384(6691): 48-53, 2024 Apr 05.
Artigo em Inglês | MEDLINE | ID: mdl-38574139

RESUMO

Understanding universal aspects of quantum dynamics is an unresolved problem in statistical mechanics. In particular, the spin dynamics of the one-dimensional Heisenberg model were conjectured as to belong to the Kardar-Parisi-Zhang (KPZ) universality class based on the scaling of the infinite-temperature spin-spin correlation function. In a chain of 46 superconducting qubits, we studied the probability distribution of the magnetization transferred across the chain's center, [Formula: see text]. The first two moments of [Formula: see text] show superdiffusive behavior, a hallmark of KPZ universality. However, the third and fourth moments ruled out the KPZ conjecture and allow for evaluating other theories. Our results highlight the importance of studying higher moments in determining dynamic universality classes and provide insights into universal behavior in quantum systems.

3.
Zhonghua Jie He He Hu Xi Za Zhi ; 47(4): 339-345, 2024 Apr 12.
Artigo em Chinês | MEDLINE | ID: mdl-38599809

RESUMO

Objective: To construct and characterize conditional Src homology region 2 protein tyrosine phosphatase 1 (SHP-1) knockout mice in airway epithelial cells and to observe the effect of defective SHP-1 expression in airway epithelial cells on the emphysema phenotype in chronic obstructive pulmonary disease (COPD). Methods: To detect the expression of SHP-1 in the airway epithelium of COPD patients. CRISPR/Cas9 technology was used to construct SHP-1flox/flox transgenic mice, which were mated with airway epithelial Clara protein 10-cyclase recombinase and estrogen receptor fusion transgenic mice (CC10-CreER+/+), and after intraperitoneal injection of tamoxifen, airway epithelial SHP-1 knockout mice were obtained (SHP-1flox/floxCC10-CreER+/-, SHP-1Δ/Δ). Mouse tail and lung tissue DNA was extracted and PCR amplified to discriminate the genotype of the mice; the knockout effect of SHP-1 gene in airway epithelial cells was verified by qRT-PCR, Western blotting, and immunofluorescence. In addition, an emphysema mouse model was constructed using elastase to assess the severity of emphysema in each group of mice. Results: Airway epithelial SHP-1 was significantly downregulated in COPD patients. Genotyping confirmed that SHP-1Δ/Δ mice expressed CC10-CreER and SHP-1-flox. After tamoxifen induction, we demonstrated the absence of SHP-1 protein expression in airway epithelial cells of SHP-1Δ/Δ mice at the DNA, RNA, and protein levels, indicating that airway epithelial cell-specific SHP-1 knockout mice had been successfully constructed. In the emphysema animal model, SHP-1Δ/Δ mice had a more severe emphysema phenotype compared with the control group, which was manifested by disorganization of alveolar structure in lung tissue and rupture and fusion of alveolar walls to form pulmonary alveoli. Conclusions: The present study successfully established and characterized the SHP-1 knockout mouse model of airway epithelial cells, which provides a new experimental tool for the in-depth elucidation of the role of SHP-1 in the emphysema process of COPD and its mechanism.


Assuntos
Enfisema , Doença Pulmonar Obstrutiva Crônica , Enfisema Pulmonar , Humanos , Camundongos , Animais , Enfisema Pulmonar/genética , Enfisema Pulmonar/metabolismo , Doença Pulmonar Obstrutiva Crônica/metabolismo , Células Epiteliais/metabolismo , Camundongos Transgênicos , Camundongos Knockout , Fenótipo , DNA , Tamoxifeno
5.
Hernia ; 2024 Apr 04.
Artigo em Inglês | MEDLINE | ID: mdl-38573484

RESUMO

PURPOSE: The safety of laparoscopic inguinal-hernia repair must be carefully evaluated in elderly patients. Very little is known regarding the safety of the laparoscopic approach in elderly patients under surgical and medical co-management (SMC). Therefore, this study evaluated the safety of the laparoscopic approach in elderly patients, especially patients with multiple comorbidities under SMC. METHODS: From January 2012 to December 2021, patients aged ≥ 65 years who underwent open or laparoscopic inguinal-hernia repair during hospitalization were consecutively enrolled. Postoperative outcomes included major and minor operation-related complications, and other adverse events. To reduce potential selection bias, propensity score matching was performed between open and laparoscopic groups based on patients' demographics and comorbidities. RESULTS: A total of 447 elderly patients who underwent inguinal-hernia repair were enrolled, with 408 (91.3%) underwent open and 39 (8.7%) laparoscopic surgery. All postoperative outcomes were comparable between open and laparoscopic groups after 1:1 propensity score matching (all p > 0.05). Moreover, compared to the traditional care group (n = 360), a higher proportion of the SMC group (n = 87) was treated via the laparoscopic approach (18.4% vs. 6.4%, p = 0.00). In the laparoscopic approach subgroup (n = 39), patients in the SMC group (n = 16) were older with multiple comorbidities but were at higher risks of only minor operation-related complications, compared to those in the traditional care group. CONCLUSIONS: Laparoscopic inguinal-hernia repair surgery is safe for elderly patients, especially those with multiple comorbidities under SMC.

6.
Phys Rev Lett ; 132(14): 141901, 2024 Apr 05.
Artigo em Inglês | MEDLINE | ID: mdl-38640399

RESUMO

Using e^{+}e^{-} collision data corresponding to an integrated luminosity of 7.33 fb^{-1} recorded by the BESIII detector at center-of-mass energies between 4.128 and 4.226 GeV, we present an analysis of the decay D_{s}^{+}→π^{+}π^{-}e^{+}ν_{e}, where the D_{s}^{+} is produced via the process e^{+}e^{-}→D_{s}^{*±}D_{s}^{∓}. We observe the f_{0}(980) in the π^{+}π^{-} system and the branching fraction of the decay D_{s}^{+}→f_{0}(980)e^{+}ν_{e} with f_{0}(980)→π^{+}π^{-} measured to be (1.72±0.13_{stat}±0.10_{syst})×10^{-3}, where the uncertainties are statistical and systematic, respectively. The dynamics of the D_{s}^{+}→f_{0}(980)e^{+}ν_{e} decay are studied with the simple pole parametrization of the hadronic form factor and the Flatté formula describing the f_{0}(980) in the differential decay rate, and the product of the form factor f_{+}^{f_{0}}(0) and the c→s Cabibbo-Kobayashi-Maskawa matrix element |V_{cs}| is determined for the first time to be f_{+}^{f_{0}}(0)|V_{cs}|=0.504±0.017_{stat}±0.035_{syst}. Furthermore, the decay D_{s}^{+}→f_{0}(500)e^{+}ν_{e} is searched for the first time but no signal is found. The upper limit on the branching fraction of D_{s}^{+}→f_{0}(500)e^{+}ν_{e}, f_{0}(500)→π^{+}π^{-} decay is set to be 3.3×10^{-4} at 90% confidence level.

7.
Nan Fang Yi Ke Da Xue Xue Bao ; 44(3): 491-498, 2024 Mar 20.
Artigo em Chinês | MEDLINE | ID: mdl-38597440

RESUMO

OBJECTIVE: To investigate the risk factors of in-hospital mortality and establish a risk prediction model for patients receiving venoarterial extracorporeal membrane oxygenation (VA-ECMO). METHODS: We retrospectively collected the data of 302 patients receiving VA-ECMO in ICU of 3 hospitals in Guangdong Province between January, 2015 and January, 2022 using a convenience sampling method. The patients were divided into a derivation cohort (201 cases) and a validation cohort (101 cases). Univariate and multivariate logistic regression analyses were used to analyze the risk factors for in-hospital death of these patients, based on which a risk prediction model was established in the form of a nomogram. The receiver operator characteristic (ROC) curve, calibration curve and clinical decision curve were used to evaluate the discrimination ability, calibration and clinical validity of this model. RESULTS: The in-hospital mortality risk prediction model was established based the risk factors including hypertension (OR=3.694, 95% CI: 1.582-8.621), continuous renal replacement therapy (OR=9.661, 95%CI: 4.103-22.745), elevated Na2 + level (OR=1.048, 95% CI: 1.003-1.095) and increased hemoglobin level (OR=0.987, 95% CI: 0.977-0.998). In the derivation cohort, the area under the ROC curve (AUC) of this model was 0.829 (95% CI: 0.770-0.889), greater than those of the 4 single factors (all AUC < 0.800), APACHE II Score (AUC=0.777, 95% CI: 0.714-0.840) and the SOFA Score (AUC=0.721, 95% CI: 0.647-0.796). The results of internal validation showed that the AUC of the model was 0.774 (95% CI: 0.679-0.869), and the goodness of fit test showed a good fitting of this model (χ2=4.629, P>0.05). CONCLUSION: The risk prediction model for in-hospital mortality of patients on VA-ECMO has good differentiation, calibration and clinical effectiveness and outperforms the commonly used disease severity scoring system, and thus can be used for assessing disease severity and prognostic risk level in critically ill patients.


Assuntos
Oxigenação por Membrana Extracorpórea , Humanos , Estudos Retrospectivos , Mortalidade Hospitalar , Oxigenação por Membrana Extracorpórea/métodos , Estudos de Casos e Controles , Prognóstico , Curva ROC
8.
Phys Rev Lett ; 132(13): 131901, 2024 Mar 29.
Artigo em Inglês | MEDLINE | ID: mdl-38613263

RESUMO

We present cross sections for the reaction e^{+}e^{-}→K_{S}^{0}K_{L}^{0} at center-of-mass energies ranging from 3.51 to 4.95 GeV using data samples collected in the BESIII experiment, corresponding to a total integrated luminosity of 26.5 fb^{-1}. The ratio of neutral-to-charged kaon form factors at large momentum transfers (12

9.
Phys Rev Lett ; 132(13): 131903, 2024 Mar 29.
Artigo em Inglês | MEDLINE | ID: mdl-38613307

RESUMO

We perform for the first time an amplitude analysis of the decay D^{+}→K_{S}^{0}π^{+}η and report the observation of the decay D^{+}→K_{S}^{0}a_{0}(980)^{+} using 2.93 fb^{-1} of e^{+}e^{-} collision data taken at a center-of-mass energy of 3.773 GeV with the BESIII detector. As the only W-annihilation-free decay among D to a_{0}(980) pseudoscalar, D^{+}→K_{S}^{0}a_{0}(980)^{+} is the ideal decay in extracting the contributions of the W-emission amplitudes involving a_{0}(980) and to study the final-state interactions. The absolute branching fraction of D^{+}→K_{S}^{0}π^{+}η is measured to be (1.27±0.04_{stat}±0.03_{syst})%. The branching fractions of intermediate processes D^{+}→K_{S}^{0}a_{0}(980)^{+} with a_{0}(980)^{+}→π^{+}η and D^{+}→π^{+}K[over ¯]_{0}^{*}(1430)^{0} with K[over ¯]_{0}^{*}(1430)^{0}→K_{S}^{0}η are measured to be (1.33±0.05_{stat}±0.04_{syst})% and (0.14±0.03_{stat}±0.01_{syst})%, respectively.

10.
Sci Rep ; 14(1): 8549, 2024 Apr 12.
Artigo em Inglês | MEDLINE | ID: mdl-38609459

RESUMO

To study the effect of internal particle size on the microstructure properties and thermal decomposition characteristics of site mixed emulsion explosive at different altitudes. Site mixed emulsion explosive was prepared with different shear rate. The particle size, viscosity, sensitized bubbles, detonation velocity and peak pressure of the emulsion explosive were tested after stored at different simulated altitudes. The thermal decomposition characteristics of emulsion matrix prepared at three different rotational speeds were measured by thermogravimetric analyzer and kinetic analysis was performed by non-isothermal model Kissinger-Akah-Sunose (KAS) method. The results show that with the increase in altitude, the internal phase size showed a trend of first increasing and then decreasing, and the number of sensitized bubbles within the emulsion explosive decreases. At an altitude of 0 m, the detonation velocity and peak overpressure of the emulsion explosive prepared by 1600 r min-1 increased 4.78% and 29.09%, respectively compared with 1200 r min-1, and at an altitude of 4500 m, the detonation velocity increased 11.87%, the peak overpressure increased 43.98%. The thermal decomposition activation energy of the emulsion matrix at 1600 r min-1 increased 13.14% compared to 1200 r min-1. It shows that in the production of site mixed emulsion explosive at high altitude, reducing the particle size of the internal phase of emulsion explosives in a certain range can effectively improve the performance of emulsion explosives.

11.
Nan Fang Yi Ke Da Xue Xue Bao ; 44(3): 578-584, 2024 Mar 20.
Artigo em Chinês | MEDLINE | ID: mdl-38597450

RESUMO

OBJECTIVE: To investigate the regulatory role of miR-26b-3p in proliferation, migration and invasion of glioma. METHODS: The expressions of miR-26b-3p and cAMP-responsive element binding protein 1 (CREB1) in gliomas of different pathological grades were detected with RT-qPCR and Western blotting. Bioinformatic methods were used to analyze the target sequence of miRNA-26b-3p binding to CREB1, and dual luciferase gene reporter experiment was performed to explore the mechanism for targeted regulation of CREB1 by miR-26b-3p. Glioma U251 cells were treated with miR-26b-3p mimic or inhibitor, and the changes in CREB1 expression and cell proliferation, migration, invasion and apoptosis were determined with Western blotting, CCK-8 assay, wound healing assay, Transwell assay, and flow cytometry. RESULTS: The expression of miR-26b-3p decreased while CREB1 expression increased significantly as the pathological grade of gliomas increased (P < 0.05). Dual luciferase gene reporter experiment confirmed that CREB1 was a downstream target of miR-26b-3p. Inhibition of miR-26b-3p significantly upregulated the expression of CERB1, suppressed apoptosis and promoted proliferation and invasion of glioma cells, and overexpression of miR-26b-3p produced the opposite effects (P < 0.05). CONCLUSION: MiR-26b-3p regulates CREB1 expression to modulate apoptosis, proliferation, migration and invasion of glioma cells, thereby participating in tumorigenesis and progression of glioma.


Assuntos
Glioma , MicroRNAs , Humanos , Apoptose/genética , Linhagem Celular Tumoral , Movimento Celular/genética , Proliferação de Células/genética , Proteína de Ligação ao Elemento de Resposta ao AMP Cíclico/metabolismo , Regulação Neoplásica da Expressão Gênica , Glioma/genética , Glioma/patologia , Luciferases/genética , MicroRNAs/metabolismo
12.
Phys Rev Lett ; 132(10): 101801, 2024 Mar 08.
Artigo em Inglês | MEDLINE | ID: mdl-38518329

RESUMO

Using (10087±44)×10^{6} J/ψ events collected with the BESIII detector, numerous Ξ^{-} and Λ decay asymmetry parameters are simultaneously determined from the process J/ψ→Ξ^{-}Ξ[over ¯]^{+}→Λ(pπ^{-})π^{-}Λ[over ¯](n[over ¯]π^{0})π^{+} and its charge-conjugate channel. The precisions of α_{Λ0} for Λ→nπ^{0} and α[over ¯]_{Λ0} for Λ[over ¯]→n[over ¯]π^{0} compared to world averages are improved by factors of 4 and 1.7, respectively. The ratio of decay asymmetry parameters of Λ→nπ^{0} to that of Λ→pπ^{-}, ⟨α_{Λ0}⟩/⟨α_{Λ-}⟩, is determined to be 0.873±0.012_{-0.010}^{+0.011}, where the first and the second uncertainties are statistical and systematic, respectively. The ratio is smaller than unity more than 5σ, which signifies the existence of the ΔI=3/2 transition in Λ for the first time. Besides, we test for CP symmetry in Ξ^{-}→Λπ^{-} and in Λ→nπ^{0} with the best precision to date.

13.
Science ; 383(6689): 1332-1337, 2024 Mar 22.
Artigo em Inglês | MEDLINE | ID: mdl-38513021

RESUMO

Engineered dissipative reservoirs have the potential to steer many-body quantum systems toward correlated steady states useful for quantum simulation of high-temperature superconductivity or quantum magnetism. Using up to 49 superconducting qubits, we prepared low-energy states of the transverse-field Ising model through coupling to dissipative auxiliary qubits. In one dimension, we observed long-range quantum correlations and a ground-state fidelity of 0.86 for 18 qubits at the critical point. In two dimensions, we found mutual information that extends beyond nearest neighbors. Lastly, by coupling the system to auxiliaries emulating reservoirs with different chemical potentials, we explored transport in the quantum Heisenberg model. Our results establish engineered dissipation as a scalable alternative to unitary evolution for preparing entangled many-body states on noisy quantum processors.

14.
Nan Fang Yi Ke Da Xue Xue Bao ; 44(2): 236-243, 2024 Feb 20.
Artigo em Chinês | MEDLINE | ID: mdl-38501408

RESUMO

OBJECTIVE: To improve the efficiency of induced differentiation of primitive neural epithelial cells derived from human induced pluripotent stem cells (hiPSCs-NECs) into functional midbrain dopaminergic progenitor cells (DAPs). METHODS: HiPSCs were cultured in mTeSRTM medium containing DMH1 (10 µmol/L), SB431542 (10 µmol/L), SHH (200 ng/mL), FGF8 (100 ng/mL), purmorphamine (2 µmol/L), CHIR99021 (3 µmol/L), and N2 (1%) for 12 days to induce their differentiation into primitive neuroepithelial cells (NECs). The hiPSCs-NECs were digested with collagenase Ⅳ and then cultured in neurobasal medium supplemented with 1% N2, 2% B27-A, BDNF (10 ng/mL), GDNF (10 ng/mL), AA, TGF-ß, cAMP, and 1% GlutaMax in the presence of different concentrations of Rho kinase inhibitor Y27632, and the culture medium was changed the next day to remove Y27632. Continuous induction was performed until day 28 to obtain DAPs. RESULTS: Human iPSCs expressed the pluripotency markers OCT4, SOX2, Nanog, and SSEA1 and were positive for alkaline phosphatase staining. The hiPSCs-NECs were obtained on day 13 in the form of neural rosettes expressing neuroepithelial markers SOX2, nestin, and PAX6. In digested hiPSCs-NECs, the addition of 5 µmol/L Y27632 significantly promoted survival of the adherent cells, increased cell viability and the proportion of S-phase cells (P < 0.01), and reduced the rate of apoptotic cells (P < 0.05). On day 28 of induction, the obtained cells highly expressed the specific markers of DAPS (TH, FOXA2, NURR1, and Tuj1). CONCLUSION: Treatment with Y27632 (5 µmol/L) for 24 h significantly promotes the survival of human iPSCs-NECs during their differentiation into DPAs without affecting the cell differentiation, which indirectly enhances the efficiency of cell differentiation.


Assuntos
Amidas , Células-Tronco Pluripotentes Induzidas , Piridinas , Humanos , Quinases Associadas a rho , Diferenciação Celular , Inibidores de Proteínas Quinases , Mesencéfalo
15.
Artigo em Chinês | MEDLINE | ID: mdl-38538241

RESUMO

Objective: To establish a high performance liquid chromatography method for the simultaneous determination of dimethyl oxalate (DMO) and diethyl oxalate (DEO) in workplace air. Methods: From January 2022 to January 2023, air samples were collected by silica gel tubes, desorbed by acetonitrile, separated by C18 chromatographic column, detected by photo-array detector, and retention time was used to characterize and peak area was used to quantify at 210 nm wavelength. Results: The linear relationships of DMO and DEO were good, r>0.999. The detection limits of DMO and DEO were 0.39 and 0.52 µg/ml, respectively. The quantitative limit was 1.28 µg/ml for DMO and 1.72 µg/ml for DEO. Average desorption efficiency for DMO was 82.40%-92.72%, and DEO was 94.13%-97.69%. The intra-assay precision of DMO was 1.87%-6.18%, and DEO was 2.25%-3.31%. Inter-assay precision of DMO was 3.29%-5.73%, and DEO was 1.38%-2.94%. Average sampling efficiencies were 100% for both DMO and DEO. Breakthrough capacity of DMO was 37.61 mg (200 mg solid adsorbent), DEO was >28.11 mg (200 mg solid adsorbent). Samples should be stored at 4 ℃ for at least 7 days. Conclusion: This method is easy to operate and has strong practicability. All indicators meet the requirements of the specification, and it is suitable for the simultaneous determination of DMO and DEO in the workplace air.


Assuntos
Poluentes Ocupacionais do Ar , Cromatografia Líquida de Alta Pressão/métodos , Poluentes Ocupacionais do Ar/análise , Local de Trabalho , Oxalatos/análise
16.
Zhonghua Er Ke Za Zhi ; 62(4): 357-362, 2024 Mar 25.
Artigo em Chinês | MEDLINE | ID: mdl-38527507

RESUMO

Objective: To explore the diagnosis and treatment of adolescence-onset methylenetetrahydrofolate reductase (MTHFR) deficiency. Methods: This was a retrospective case study. Nine patients with adolescence-onset MTHFR deficiency were diagnosed at Peking University First Hospital from January 2016 to December 2022, and followed up for more than 1 year. Their general information, clinical manifestations, laboratory tests, cranial images, MTHFR gene variants, diagnosis, treatment, and outcome were analyzed retrospectively. Results: The 9 patients came from 8 families. They had symptoms at age of 8.0 years to 17.0 years and diagnosed at 9.0 years to 17.5 years. Eight were male and 1 was female. Two patients were brothers, the elder brother developed abnormal gait at 17.0 years; and the younger brother was then diagnosed at 15.0 years of age and treated at the asymptomatic stage, who was 18.0 years old with normal condition during this study. The main manifestations of the 8 symptomatic patients included progressive dyskinesia and spastic paralysis of the lower limbs, with or without intellectual decline, cognitive impairment and behavioral abnormalities. Totally, 15 variants of MTHFR gene were identified in the 9 patients, including 8 novel variants. Five patients had brain image abnormalities. Increased plasma total homocysteine level (65-221 µmol/L) was found in all patients, and decreased to 20-70 µmol/L after treatment with betaine and calcium folinate. Besides, the 8 symptomatic patients had their behavior and cognitive problems significantly improved, with a legacy of lower limb motor disorders. Conclusions: Late-onset MTHFR deficiency can occur in adolescence. The diagnosis is usually delayed because of non-specific clinical symptoms. The test of blood total homocysteine could be used as a selective screening test. Eight novel varients of MTHFR gene were identified. Timely treatment can improve clinical condition significantly, and pre-symptomatic treatment may prevent brain damage.


Assuntos
Metilenotetra-Hidrofolato Redutase (NADPH2) , Espasticidade Muscular , Adolescente , Criança , Feminino , Humanos , Masculino , Homocisteína/uso terapêutico , Homocistinúria , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Metilenotetra-Hidrofolato Redutase (NADPH2)/deficiência , Espasticidade Muscular/diagnóstico , Espasticidade Muscular/genética , Espasticidade Muscular/tratamento farmacológico , Transtornos Psicóticos , Estudos Retrospectivos
17.
BMC Biol ; 22(1): 64, 2024 Mar 13.
Artigo em Inglês | MEDLINE | ID: mdl-38481288

RESUMO

BACKGROUND: Studies on maize evolution and domestication are largely limited to the nuclear genomes, and the contribution of cytoplasmic genomes to selection and domestication of modern maize remains elusive. Maize cytoplasmic genomes have been classified into fertile (NA and NB) and cytoplasmic-nuclear male-sterility (CMS-S, CMS-C, and CMS-T) groups, but their contributions to modern maize breeding have not been systematically investigated. RESULTS: Here we report co-selection and convergent evolution between nuclear and cytoplasmic genomes by analyzing whole genome sequencing data of 630 maize accessions modern maize and its relatives, including 24 fully assembled mitochondrial and chloroplast genomes. We show that the NB cytotype is associated with the expansion of modern maize to North America, gradually replaces the fertile NA cytotype probably through unequal division, and predominates in over 90% of modern elite inbred lines. The mode of cytoplasmic evolution is increased nucleotypic diversity among the genes involved in photosynthesis and energy metabolism, which are driven by selection and domestication. Furthermore, genome-wide association study reveals correlation of cytoplasmic nucleotypic variation with key agronomic and reproductive traits accompanied with the diversification of the nuclear genomes. CONCLUSIONS: Our results indicate convergent evolution between cytoplasmic and nuclear genomes during maize domestication and breeding. These new insights into the important roles of mitochondrial and chloroplast genomes in maize domestication and improvement should help select elite inbred lines to improve yield stability and crop resilience of maize hybrids.


Assuntos
Domesticação , Zea mays , Zea mays/genética , Estudo de Associação Genômica Ampla , Melhoramento Vegetal , Citoplasma
18.
Phys Rev Lett ; 132(9): 091802, 2024 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-38489649

RESUMO

By analyzing 7.33 fb^{-1} of e^{+}e^{-} annihilation data collected at center-of-mass energies between 4.128 and 4.226 GeV with the BESIII detector, we report the observation of the semileptonic decay D_{s}^{+}→η^{'}µ^{+}ν_{µ}, with a statistical significance larger than 10σ, and the measurements of the D_{s}^{+}→ηµ^{+}ν_{µ} and D_{s}^{+}→η^{'}µ^{+}ν_{µ} decay dynamics for the first time. The branching fractions of D_{s}^{+}→ηµ^{+}ν_{µ} and D_{s}^{+}→η^{'}µ^{+}ν_{µ} are determined to be (2.235±0.051_{stat}±0.052_{syst})% and (0.801±0.055_{stat}±0.028_{syst})%, respectively, with precision improved by factors of 6.0 and 6.6 compared to the previous best measurements. Combined with the results for the decays D_{s}^{+}→ηe^{+}ν_{e} and D_{s}^{+}→η^{'}e^{+}ν_{e}, the ratios of the decay widths are examined both inclusively and in several ℓ^{+}ν_{ℓ} four-momentum transfer ranges. No evidence for lepton flavor universality violation is found within the current statistics. The products of the hadronic form factors f_{+,0}^{η^{(')}}(0) and the c→s Cabibbo-Kobayashi-Maskawa matrix element |V_{cs}| are determined. The results based on the two-parameter series expansion are f_{+,0}^{η}(0)|V_{cs}|=0.452±0.010_{stat}±0.007_{syst} and f_{+,0}^{η^{'}}(0)|V_{cs}|=0.504±0.037_{stat}±0.012_{syst}, which help to constrain present models on f_{+,0}^{η^{(')}}(0). The forward-backward asymmetries are determined to be ⟨A_{FB}^{η}⟩=-0.059±0.031_{stat}±0.005_{syst} and ⟨A_{FB}^{η^{'}}⟩=-0.064±0.079_{stat}±0.006_{syst} for the first time, which are consistent with the theoretical calculation.

19.
Phys Rev Lett ; 132(8): 081904, 2024 Feb 23.
Artigo em Inglês | MEDLINE | ID: mdl-38457707

RESUMO

Based on data samples collected with the BESIII detector at the BEPCII collider, the process e^{+}e^{-}→Σ^{+}Σ[over ¯]^{-} is studied at center-of-mass energies sqrt[s]=2.3960, 2.6454, and 2.9000 GeV. Using a fully differential angular description of the final state particles, both the relative magnitude and phase information of the Σ^{+} electromagnetic form factors in the timelike region are extracted. The relative phase between the electric and magnetic form factors is determined to be sinΔΦ=-0.67±0.29(stat)±0.18(syst) at sqrt[s]=2.3960 GeV, ΔΦ=55°±19°(stat)±14°(syst) at sqrt[s]=2.6454 GeV, and 78°±22°(stat)±9°(syst) at sqrt[s]=2.9000 GeV. For the first time, the phase of the hyperon electromagnetic form factors is explored in a wide range of four-momentum transfer. The evolution of the phase along with four-momentum transfer is an important input for understanding its asymptotic behavior and the dynamics of baryons.

20.
Artigo em Chinês | MEDLINE | ID: mdl-38548395

RESUMO

Objective: To investigate the early clinical characteristics of elderly patients with severe burns and the risk factors on prognosis. Methods: This study was a retrospective case series study. Clinical data of 124 elderly patients with severe burns who met the inclusion criteria and were admitted to the 12 hospitals from January 2015 to December 2020 were collected, including 4 patients from the Fourth People's Hospital of Dalian, 5 patients from Fujian Medical University Union Hospital, 22 patients from Guangzhou Red Cross Hospital of Jinan University, 5 patients from Heilongjiang Provincial Hospital, 27 patients from the First Affiliated Hospital of Naval Medical University, 9 patients from the First Affiliated Hospital of Nanchang University, 10 patients from Affiliated Hospital of Nantong University, 9 patients from Tongren Hospital of Wuhan University & Wuhan Third Hospital, 12 patients from the 924th Hospital of PLA, 6 patients from Zhangjiagang First People's Hospital, 4 patients from Taizhou Hospital of Zhejiang Province, and 11 patients from Zhengzhou First People's Hospital. The patients' overall clinical characteristics, such as gender, age, body mass index, total burn area, full-thickness burn area, inhalation injury, causative factors, whether combined with underlying medical diseases, and admission time after injury were recorded. According to the survival outcome within 28 days after injury, the patients were divided into survival group (89 cases) and death group (35 cases). The following data of patients were compared between the two groups, including the basic data and injuries (the same as the overall clinical characteristics ahead); the coagulation indexes within the first 24 hours of injury such as prothrombin time (PT), activated partial thromboplastin time (APTT), thrombin time, D-dimer, fibrinogen degradation product (FDP), international normalized ratio (INR), and fibrinogen; the blood routine indexes within the first 24 hours of injury such as white blood cell count, platelet count, neutrophil-to-lymphocyte ratio, monocyte count, red blood cell count, hemoglobin, and hematocrit; the organ function indexes within the first 24 hours of injury such as direct bilirubin, total bilirubin, urea, serum creatinine, aspartate aminotransferase, alanine aminotransferase, total protein, albumin, globulin, blood glucose, triglyceride, total cholesterol, alkaline phosphatase, creatine kinase, electrolyte indexes (potassium, sodium, chlorine, calcium, magnesium, and phosphorus in blood), uric acid, myoglobin, and brain natriuretic peptide; the infection and blood gas indexes within the first 24 hours of injury such as procalcitonin, C-reactive protein, pH value, oxygenation index, base excess, and lactate; treatment such as whether conducted with mechanical ventilation, whether conducted with continuous renal replacement therapy, whether conducted with anticoagulation therapy, whether applied with vasoactive drugs, and fluid resuscitation. The analysis was conducted to screen the independent risk factors for the mortality within 28 days after injury in elderly patients with severe burns. Results: Among 124 patients, there were 82 males and 42 females, aged 60-97 years, with body mass index of 23.44 (21.09, 25.95) kg/m2, total burn area of 54.00% (42.00%, 75.00%) total body surface area (TBSA), and full-thickness burn area of 25.00% (10.00%, 40.00%) TBSA. The patients were mainly combined with moderate to severe inhalation injury and caused by flame burns. There were 43 cases with underlying medical diseases. The majority of patients were admitted to the hospital within 8 hours after injury. There were statistically significant differences between patients in the 2 groups in terms of age, total burn area, full-thickness burn area, and inhalation injury, and PT, APTT, D-dimer, FDP, INR, white blood cell count, platelet count, urea, serum creatinine, blood glucose, blood sodium, uric acid, myoglobin, and urine volume within the first 24 hours of injury (with Z values of 2.37, 5.49, 5.26, 5.97, 2.18, 1.95, 2.68, 2.68, 2.51, 2.82, 2.14, 3.40, 5.31, 3.41, 2.35, 3.81, 2.16, and -3.82, respectively, P<0.05); there were statistically significant differences between two groups of patients in whether conducted with mechanical ventilation and whether applied with vasoactive drugs (with χ2 values of 9.44 and 28.50, respectively, P<0.05). Age, total burn area, full-thickness burn area, serum creatinine within the first 24 hours of injury, and APTT within the first 24 hours of injury were the independent risk factors for the mortality within 28 days after injury in elderly patients with severe burns (with odds ratios of 1.17, 1.10, 1.10, 1.09, and 1.27, 95% confidence intervals of 1.03-1.40, 1.04-1.21, 1.05-1.19, 1.05-1.17, and 1.07-1.69, respectively, P<0.05). Conclusions: The elderly patients with severe burns had the injuries mainly from flame burns, often accompanied by moderate to severe inhalation injury and enhanced inflammatory response, elevated blood glucose levels, activated fibrinolysis, and impaired organ function in the early stage, which are associated with their prognosis. Age, total burn area, full-thickness burn area, and serum creatinine and APTT within the first 24 hours of injury are the independent risk factors for death within 28 days after injury in this population.


Assuntos
Glicemia , Queimaduras , Masculino , Idoso , Feminino , Humanos , Estudos Retrospectivos , Creatinina , Mioglobina , Ácido Úrico , Prognóstico , Queimaduras/diagnóstico , Ácido Láctico , Produtos de Degradação da Fibrina e do Fibrinogênio , Fatores de Risco , Bilirrubina , Sódio , Ureia
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...