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1.
J Am Stat Assoc ; 118(543): 2171-2183, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-38143788

RESUMO

Transfer learning for high-dimensional Gaussian graphical models (GGMs) is studied. The target GGM is estimated by incorporating the data from similar and related auxiliary studies, where the similarity between the target graph and each auxiliary graph is characterized by the sparsity of a divergence matrix. An estimation algorithm, Trans-CLIME, is proposed and shown to attain a faster convergence rate than the minimax rate in the single-task setting. Furthermore, we introduce a universal debiasing method that can be coupled with a range of initial graph estimators and can be analytically computed in one step. A debiased Trans-CLIME estimator is then constructed and is shown to be element-wise asymptotically normal. This fact is used to construct a multiple testing procedure for edge detection with false discovery rate control. The proposed estimation and multiple testing procedures demonstrate superior numerical performance in simulations and are applied to infer the gene networks in a target brain tissue by leveraging the gene expressions from multiple other brain tissues. A significant decrease in prediction errors and a significant increase in power for link detection are observed.

2.
Zhonghua Wei Chang Wai Ke Za Zhi ; 26(10): 963-967, 2023 Oct 25.
Artigo em Chinês | MEDLINE | ID: mdl-37849267

RESUMO

Objective: To clarify the clinicopathological, especially molecular, features of early-onset gastric cancer with the aim of informing analysis of treatment strategies. Methods: In this retrospective case-control study, we examined data from a dedicated gastric cancer database in Zhongshan Hospital affiliated to Fudan University. The original cohort comprised 2506 patients with gastric cancer who had undergone gastrectomy in Zhongshan Hospital Fudan University from July 2020 to October 2021, including 198 with early-onset gastric cancer (aged ≤45 years) and 2,308 with non-early gastric cancer. We used a simple random sampling method to select 396 of the 2,308 patients aged >45 years (ratio of 1:2) as the control group and then compared molecular diagnostic data and clinicopathological features of the two groups. Results: The median age was 39 years in the early-onset gastric cancer group, while 66 years in the control group. The clinicopathological features of early-onset gastric cancer included female predominance (59.1% [117/198] vs. 27.8% [110/396], χ2=54.816, P<0.001), less comorbidity (32.3% [64/198] vs. 57.1% [226/396], χ2=32.355, P<0.001), poorer differentiation (93.9% [186/198] vs. 74.5% [295/396], χ2=30.777, P<0.001) and higher proportion of diffuse type (40.4% [80/198] vs. 15.9% [63/396], χ2=69.639, P<0.001), distant metastasis (7.1% [14/198] vs. 2.8% [11/396], χ2=6.034, P=0.014). Regarding treatment, distal gastrectomy was more commonly performed than proximal gastrectomy (55.1% [109/198] vs. 47.0% [186/396], 1.5% [3/198] vs. 8.3% [33/396], χ2=11.644, P=0.003). Family history of gastric cancer, TNM stage, tumor size, lymph node dissection, nerve invasion, nodes harboring metastases, range of lymph node dissection, digestive tract reconstruction procedure, implementation of laparoscopic surgery, combined resection, and preoperative treatment did not differ significantly between the two groups (all P>0.05). Molecular diagnosis showed there was a smaller percentage of mismatch repair deficiency in the early-onset gastric cancer than in the control group (1.0% [2/198] vs. 10.1% [40/396], χ2=16.301, P<0.001), and a higher rate of positivity for Claudin 18.2 (77.8% [154/198] vs. 53.0% [210/396], χ2=5.442,P<0.001). HER-2 and Epstein-Barr virus positivity rates did not differ significantly between the two groups. Conclusion: Early-onset gastric cancer is a distinct type of gastric cancer with a high degree of malignancy, and treatment targeting Claudin 18.2 may be effective.


Assuntos
Infecções por Vírus Epstein-Barr , Neoplasias Gástricas , Humanos , Feminino , Adulto , Masculino , Estudos Retrospectivos , Estudos de Casos e Controles , Neoplasias Gástricas/cirurgia , Patologia Molecular , Herpesvirus Humano 4 , Claudinas
3.
Zhonghua Yu Fang Yi Xue Za Zhi ; 57(10): 1590-1595, 2023 Oct 06.
Artigo em Chinês | MEDLINE | ID: mdl-37859375

RESUMO

To investigate the clinical efficacy and safety of dupilumab in the treatment of moderate to severe atopic dermatitis (AD) in China. A small sample self-controlled study before and after treatment was conducted to retrospective analysis patients with moderate to severe AD treated with dupilumab in the department of dermatology of the First Affiliated Hospital of Chongqing Medical University from July 2020 to March 2022. Dupilumab 600 mg was injected subcutaneously at week 0, and then 300 mg was injected subcutaneously every 2 weeks. The condition was evaluated by SCORAD(severity scoring of atopic dermatitis), NRS(numerical rating scale), DLQI(dermatology life quality index) and POEM(patient-oriented eczema measure). The improvement of SCORAD, NRS, DLQI and POEM was analyzed by paired t test and non-parametric paired Wilcoxon. The results showed that a total of 67 patients with moderate to severe AD received dupilumab treatment, of which 41 patients (the course of treatment was more than 6 weeks) had reduced the severity of skin lesions, improved quality of life and reduced pruritus. A total of 23 patients completed 16 weeks of treatment. At 4, 8, 12 and 16 weeks, SCORAD, NRS, DLQI and POEM decreased compared with the baseline, and the differences were statistically significant. SCORAD (50.13±15.19) at baseline, SCORAD (36.08±11.96)(t=6.049,P<0.001) at week 4,SCORAD (28.04±11.10)(t=10.471,P<0.001) at week 8, SCORAD (22.93±9.72)(t=12.428,P<0.001) at week 12, SCORAD (16.84±7.82)(t=14.609,P<0.001) at week 16, NRS 7(6,8) at baseline, NRS 4(3,5)(Z=-3.861,P<0.001) at week 4, NRS 2(1,4)(Z=-4.088,P<0.001) at week 8, NRS 1(0,2)(Z=-4.206,P<0.001) at week 12, NRS 2(0,2)(Z=-4.222,P<0.001) at week 16, DLQI (13.83±5.71) at baseline, DLQI (8.00±4.02)(t=6.325,P<0.001) at week 4, DLQI (5.61±3.50)(t=8.060,P<0.001) at week 8, DLQI (3.96±1.99)(t=8.717,P<0.001) at week 12, DLQI (2.70±1.89)(t=10.355,P<0.001) at week 16, POEM (18.04±6.41) at baseline, POEM (9.70±4.70)(t=7.031,P<0.001) at week 4, POEM (7.74±3.48)(t=8.806,P<0.001) at week 8, POEM (6.35±3.33)(t=10.474,P<0.001) at week 12, POEM (4.26±2.51)(t=11.996,P<0.001) at week 16. In the 16th week, 100%(23 patients), 91.3%(21 patients), 34.8%(8 patients) and 8.7%(2 patients) of 23 patients reached SCORAD30, SCORAD50, SCORAD70, and SCORAD90 statuses, respectively. There were 82.6%(19 patients), 95.7%(22 patients) and 95.7%(22 patients) of 23 patients with NRS, DLQI and POEM improved by≥4 points compared with baseline. Twelve patients with AD who continued to receive dupilumab after 16 weeks showed further improvement in skin lesions. The adverse events were conjunctivitis and injection site reaction. In conclusion, dupilumab is an effective and safe treatment for moderate and severe AD. However, the longer-term efficacy and safety require further studies involving larger sample sizes and a longer follow-up time.


Assuntos
Dermatite Atópica , Humanos , Dermatite Atópica/tratamento farmacológico , Qualidade de Vida , Estudos Retrospectivos , Índice de Gravidade de Doença , Resultado do Tratamento
4.
J Am Stat Assoc ; 118(543): 1849-1861, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37771513

RESUMO

Sparse topic modeling under the probabilistic latent semantic indexing (pLSI) model is studied. Novel and computationally fast algorithms for estimation and inference of both the word-topic matrix and the topic-document matrix are proposed and their theoretical properties are investigated. Both minimax upper and lower bounds are established and the results show that the proposed algorithms are rate-optimal, up to a logarithmic factor. Moreover, a refitting algorithm is proposed to establish asymptotic normality and construct valid confidence intervals for the individual entries of the word-topic and topic-document matrices. Simulation studies are carried out to investigate the numerical performance of the proposed algorithms. The results show that the proposed algorithms perform well numerically and are more accurate in a range of simulation settings comparing to the existing literature. In addition, the methods are illustrated through an analysis of the COVID-19 Open Research Dataset (CORD-19).

5.
Phys Rev Lett ; 131(5): 051801, 2023 Aug 04.
Artigo em Inglês | MEDLINE | ID: mdl-37595210

RESUMO

MINERvA has measured the ν_{µ}-induced coherent π^{+} cross section simultaneously in hydrocarbon (CH), graphite (C), iron (Fe), and lead (Pb) targets using neutrinos from 2 to 20 GeV. The measurements exceed the predictions of the Rein-Sehgal and Berger-Sehgal PCAC based models at multi-GeV ν_{µ} energies and at produced π^{+} energies and angles, E_{π}>1 GeV and θ_{π}<10°. Measurements of the cross-section ratios of Fe and Pb relative to CH reveal the effective A scaling to increase from an approximate A^{1/3} scaling at few GeV to an A^{2/3} scaling for E_{ν}>10 GeV.

6.
Phys Rev Lett ; 131(1): 011801, 2023 Jul 07.
Artigo em Inglês | MEDLINE | ID: mdl-37478458

RESUMO

Neutrino-induced charged-current single π^{+} production in the Δ(1232) resonance region is of considerable interest to accelerator-based neutrino oscillation experiments. In this Letter, high statistic differential cross sections are reported for the semiexclusive reaction ν_{µ}A→µ^{-}π^{+}+ nucleon(s) on scintillator, carbon, water, iron, and lead targets recorded by MINERvA using a wideband ν_{µ} beam with ⟨E_{ν}⟩≈6 GeV. Suppression of the cross section at low Q^{2} and enhancement of low T_{π} are observed in both light and heavy nuclear targets compared with phenomenological models used in current neutrino interaction generators. The cross sections per nucleon for iron and lead compared with CH across the kinematic variables probed are 0.8 and 0.5 respectively, a scaling which is also not predicted by current generators.

7.
J Am Stat Assoc ; 118(542): 1319-1332, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37366472

RESUMO

This paper develops a unified statistical inference framework for high-dimensional binary generalized linear models (GLMs) with general link functions. Both unknown and known design distribution settings are considered. A two-step weighted bias-correction method is proposed for constructing confidence intervals and simultaneous hypothesis tests for individual components of the regression vector. Minimax lower bound for the expected length is established and the proposed confidence intervals are shown to be rate-optimal up to a logarithmic factor. The numerical performance of the proposed procedure is demonstrated through simulation studies and an analysis of a single cell RNA-seq data set, which yields interesting biological insights that integrate well into the current literature on the cellular immune response mechanisms as characterized by single-cell transcriptomics. The theoretical analysis provides important insights on the adaptivity of optimal confidence intervals with respect to the sparsity of the regression vector. New lower bound techniques are introduced and they can be of independent interest to solve other inference problems in high-dimensional binary GLMs.

8.
Zhonghua Yan Ke Za Zhi ; 59(6): 444-451, 2023 Jun 11.
Artigo em Chinês | MEDLINE | ID: mdl-37264574

RESUMO

Objective: To explore the characteristics of orthokeratology lenses designed for small correction zones and their effectiveness and safety in long-term prevention and control of myopia in children and adolescents. Methods: It was a prospective cohort study that included myopic children and adolescents who received corneal reshaping treatment at the Qingdao Eye Hospital of Shandong First Medical University between January 2019 and May 2020. The patients were randomly divided into two groups using computer-generated randomization, and were fitted with corneal reshaping lenses with small treatment zones and conventional designs, respectively. The uncorrected visual acuity, best-corrected visual acuity, refractive error, and axial length were measured before and after 6, 12, and 18 months of wearing the lenses. Corneal topography with the Pentacam was also performed, and the area and diameter of the corneal treatment zone were calculated using the Matlab software. Results: A total of 60 myopic patients (60 eyes) were enrolled, including 29 males and 31 females, with an age of (10.40±1.01) years and a spherical equivalent of (-2.88±0.42) D. There were 30 cases in the small correction zone group and 30 cases in the conventional group. There was no significant difference in uncorrected visual acuity and spherical equivalent between the two groups at each time point after treatment. The axial growth in the conventional group was (0.16±0.09) mm at 6 months after treatment, (0.28±0.17) mm at 12 months, and (0.37±0.20) mm at 18 months, whereas in the small treatment zone group it was (0.06±0.05) mm, (0.12±0.10) mm, and (0.18±0.14) mm, respectively. The myopia progression rate in the small treatment zone group was only 37.50%, 42.86%, and 48.64% of the conventional group at 6, 12, and 18 months, respectively. Corneal topography showed that the treatment area in the conventional group was (6.98±0.89) mm², while in the small treatment zone group it decreased by 23.2% [(5.36±0.73) mm²] (P<0.05). Correlation analysis revealed that the axial increase after 18 months of lens wearing was negatively correlated with the age before lens wearing (P<0.05), positively correlated with the corneal surface treatment zone size (P<0.05), and not correlated with the pupil diameter and spherical equivalent (all P>0.05). After the shaping treatment, the rate of adverse reaction, which was mild, in both groups was 10%, and the symptoms disappeared. Conclusion: Orthokeratology lenses with smaller treatment zones can significantly reduce the rate of axial length growth in children and adolescents compared to lenses with conventional treatment zones, without compromising treatment safety.


Assuntos
Miopia , Procedimentos Ortoceratológicos , Erros de Refração , Masculino , Feminino , Humanos , Adolescente , Criança , Estudos Prospectivos , Miopia/prevenção & controle , Córnea , Topografia da Córnea , Refração Ocular
9.
Zhonghua Gan Zang Bing Za Zhi ; 31(2): 118-125, 2023 Feb 20.
Artigo em Chinês | MEDLINE | ID: mdl-37137825

RESUMO

Objective: To observe the efficacy and factors influencing sequential or combined tenofovir alafenamide fumarate (TAF) after treatment with entecavir (ETV) in patients with chronic hepatitis B (CHB) with low-level viremia (LLV). Methods: 126 CHB cases treated with ETV antiviral therapy in the Department of Infectious Diseases of the First Affiliated Hospital of Nanchang University from January 2020-September 2022 were retrospectively collected. Patients were divided into a complete virologic response (CVR) group (n = 84) and a low-level viremia (LLV) group (n = 42) according to the HBV DNA level during treatment. Clinical characteristics and laboratory indicators of the two groups at baseline and 48 weeks were analyzed by univariate analysis. Patients in the LLV group were divided into three groups according to their continued antiviral treatment regimen until 96 weeks: continued use of ETV as a control group; replacement of TAF as a sequential group; and combination of ETV and TAF as a combined group. The data of the three groups of patients were analyzed by one-way analysis of variance for 48 weeks. HBV DNA negative conversion rate, HBeAg negative conversion rate, alanine aminotransferase (ALT), creatinine (Cr), and liver stiffness test (LSM) were compared among the three groups after 96 weeks of antiviral treatment. Multivariate logistic regression was used to analyze the independent factors influencing the occurrence of HBV DNA non-negative conversion in LLV patients at 96 weeks. Receiver operating characteristic curve (ROC) was used to evaluate the effectiveness of predicting the occurrence of HBV DNA non-negative conversion in LLV patients at 96 weeks. Kaplan-Meier was used to analyze the cumulative negative rate of DNA in LLV patients, and the Log-Rank test was used for comparison. HBV DNA and HBV DNA negative conversion rates during treatment were observed dynamically. Results: Univariate analysis showed statistically significant differences in age, BMI, HBeAg positivity rate, HBV DNA, HBsAg, ALT, AST, and LSM at baseline between the CVR group and the LLV group (P < 0.05). Univariate analysis of variance revealed no statistically significant difference among the three groups of LLV patients at 48 weeks (P > 0.05). HBV-DNA negative conversion rate in the sequential group and the combination group was significantly higher than that in the control group after 96 weeks of treatment (88.89% vs. 41.18%, 85.71% vs. 41.18%, χ (2) = 10.404, P = 0.006). HBeAg negative conversion rate was higher than that of the control group, with no statistically significant difference (P > 0.05).Compared with the control group, ALT, Cr, and LSM in the sequential group and the combined group were equally improved to varying degrees, with a statistically significant difference (P < 0.05). Subsequent use of ETV and HBV DNA at 48 weeks were independent risk factors for HBV DNA positivity at 96 weeks in LLV patients (P < 0.05). The AUC of HBV DNA at 48 weeks was 0.735 (95%CI: 0.578 ~ 0.891), the cut-off value was 2.63 log(10) IU/ml, and the sensitivity and specificity were 76.90% and 72.40%, respectively. DNA conversion rate was significantly lower in LLV patients receiving 48-week ETV and 48-week HBV DNA≥2.63 log10 IU/mL than in patients receiving sequential or combined TAF and 48-week HBV DNA < 2.63 log(10) IU/mL. HBV DNA negative conversion rates in the sequential group and combined group at 72 weeks, 84 weeks, and 96 weeks were higher than those in the control group during the period from 48 weeks to 96 weeks of continuous treatment, and the differences were statistically significant (P < 0.05). Conclusion: Sequential or combined TAF antiviral therapy could more effectively improve the 96-week CVR rate, as well as hepatic and renal function, and alleviate the degree of hepatic fibrosis in CHB patients with LLV following ETV treatment. Subsequent use of ETV and HBV DNA load at 48 weeks were independent predictors of HBV DNA positivity at 96 weeks in LLV patients.


Assuntos
Hepatite B Crônica , Humanos , Hepatite B Crônica/tratamento farmacológico , Antígenos E da Hepatite B , DNA Viral , Viremia/tratamento farmacológico , Estudos Retrospectivos , Resultado do Tratamento , Antivirais/uso terapêutico , Adenina/uso terapêutico , Fumaratos/uso terapêutico
10.
Phys Rev Lett ; 130(16): 161801, 2023 Apr 21.
Artigo em Inglês | MEDLINE | ID: mdl-37154647

RESUMO

This Letter presents the first simultaneous measurement of the quasielasticlike neutrino-nucleus cross sections on C, water, Fe, Pb, and scintillator (hydrocarbon or CH) as a function of longitudinal and transverse muon momentum. The ratio of cross sections per nucleon between Pb and CH is always above unity and has a characteristic shape as a function of transverse muon momentum that evolves slowly as a function of longitudinal muon momentum. The ratio is constant versus longitudinal momentum within uncertainties above a longitudinal momentum of 4.5 GeV/c. The cross section ratios to CH for C, water, and Fe remain roughly constant with increasing longitudinal momentum, and the ratios between water or C to CH do not have any significant deviation from unity. Both the overall cross section level and the shape for Pb and Fe as a function of transverse muon momentum are not reproduced by current neutrino event generators. These measurements provide a direct test of nuclear effects in quasielasticlike interactions, which are major contributors to long-baseline neutrino oscillation data samples.

11.
Zhonghua Yu Fang Yi Xue Za Zhi ; 57(5): 778-784, 2023 May 06.
Artigo em Chinês | MEDLINE | ID: mdl-37165827

RESUMO

Chronic pruritus seriously affects the quality of life of patients, which is closely related to stress, anxiety and depression. Prolonged and repeated pruritus can induce negative emotions such as anxiety and depression, while continued increased negative emotions can also promote exacerbation of pruritus, which drives the itch scratch cycle, thereby further aggravating skin damage. More and more studies have explored the mechanism of pruritus, anxiety and depression. This article mainly reviews the clinical relationship between pruritus and anxiety, depression and the new progress of its possible mechanism, providing reference for the prevention, control and effective treatment of chronic pruritus, anxiety and depression.


Assuntos
Ansiedade , Depressão , Prurido , Humanos , Prurido/psicologia , Qualidade de Vida , Doença Crônica
12.
Nan Fang Yi Ke Da Xue Xue Bao ; 43(3): 488-494, 2023 Mar 20.
Artigo em Chinês | MEDLINE | ID: mdl-37087596

RESUMO

OBJECTIVE: To assess the therapeutic effect and adverse effect of intravesical instillation of bacillus Calmette-Guerin (BCG) for treatment of non-muscle invasive bladder cancer (NMIBC) and analyze the independent predictors of patient survival. METHODS: We retrospectively collected the clinical data from 421 patients (mean age 61.79±11.51 years) with NMIBC, who received intravesical instillation of BCG after surgery in Sun Yat-sen University Cancer Center from September, 2015 to September, 2021. Recurrence-free survival (RFS), progression-free survival (PFS), and disease specific survival (DSS) of the patients were analyzed, and the adverse effects were assessed using Common Terminology Criteria for Adverse Events 5.0. Kaplan-Meier analysis, univariate and multivariate COX regression analyses were used to identify the independent predictors of the patients' survival outcomes. RESULTS: The median follow-up of the patients was 17 months, during which 88 (20.9%) patients experienced recurrence (median time to recurrence of 10 months, range 3-58 months); 40 (9.5%) patients showed tumor progression (median time to progression of 18 months, range 3-50 months); and 14 (3.3%) patients died (median survival time of 30 months, range 8-52 months). Adverse events of grade 1, 2, and 3 occurred in 69, 110, and 23 of the patients, respectively. Survival analysis indicated that an age below 67.5 years (P=0.013), first tumor onset (P < 0.001), solitary tumor (P= 0.010), time to recurrence over one year (P=0.042), low levels of neutrophils (P=0.005), monocytes (P=0.005) and neutrophil/lymphocyte ratio (NLR; P=0.014), and cytokeratin 19 fragment 21-1 (CyFra21-1; P=0.002) were all associated with a higher PFS rate. Multivariate COX analysis suggested that the time of tumor recurrence (P=0.007, HR=2.669, 95% CI: 1.316-5.414), monocyte counts (P=0.015, HR=0.376, 95% CI: 0.171-0.829), and serum CyFra21-1 level (P=0.002, HR=0.312, 95% CI: 0.151-0.647) were independent predictors of RFS; primary tumor or tumor relapse (P=0.003, HR=0.301, 95% CI: 0.138-0.660), neutrophil counts (P=0.028, HR=0.302, 95% CI: 0.103-0.882), and CyFra21-1 level (P=0.029, HR=0.358, 95% CI: 0.142-0.903) were independent predictors of PFS following BCG instillation. CONCLUSION: Intravesical instillation of BCG is effective for treatment of intermediate or high-risk NMIBC, and the adverse effects are tolerable in most cases. The time of tumor recurrence, monocyte counts, and serum CyFra21-1 level are independent predictors of RFS, and primary tumor or tumor relapse, neutrophil counts, and CyFra21-1 level are independent predictors of PFS.


Assuntos
Neoplasias não Músculo Invasivas da Bexiga , Neoplasias da Bexiga Urinária , Humanos , Pessoa de Meia-Idade , Idoso , Administração Intravesical , Vacina BCG/uso terapêutico , Recidiva Local de Neoplasia/tratamento farmacológico , Estudos Retrospectivos , Neoplasias da Bexiga Urinária/tratamento farmacológico , Neoplasias da Bexiga Urinária/patologia , Invasividade Neoplásica
13.
Nature ; 614(7946): 48-53, 2023 02.
Artigo em Inglês | MEDLINE | ID: mdl-36725994

RESUMO

Scattering of high energy particles from nucleons probes their structure, as was done in the experiments that established the non-zero size of the proton using electron beams1. The use of charged leptons as scattering probes enables measuring the distribution of electric charges, which is encoded in the vector form factors of the nucleon2. Scattering weakly interacting neutrinos gives the opportunity to measure both vector and axial vector form factors of the nucleon, providing an additional, complementary probe of their structure. The nucleon transition axial form factor, FA, can be measured from neutrino scattering from free nucleons, νµn → µ-p and [Formula: see text], as a function of the negative four-momentum transfer squared (Q2). Up to now, FA(Q2) has been extracted from the bound nucleons in neutrino-deuterium scattering3-9, which requires uncertain nuclear corrections10. Here we report the first high-statistics measurement, to our knowledge, of the [Formula: see text] cross-section from the hydrogen atom, using the plastic scintillator target of the MINERvA11 experiment, extracting FA from free proton targets and measuring the nucleon axial charge radius, rA, to be 0.73 ± 0.17 fm. The antineutrino-hydrogen scattering presented here can access the axial form factor without the need for nuclear theory corrections, and enables direct comparisons with the increasingly precise lattice quantum chromodynamics computations12-15. Finally, the tools developed for this analysis and the result presented are substantial advancements in our capabilities to understand the nucleon structure in the weak sector, and also help the current and future neutrino oscillation experiments16-20 to better constrain neutrino interaction models.

14.
Zhonghua Yu Fang Yi Xue Za Zhi ; 57(2): 253-258, 2023 Feb 06.
Artigo em Chinês | MEDLINE | ID: mdl-36797585

RESUMO

The molecular genetic characteristics of a family with rare -88 C>G (HBB: c.-138 C>G) ß-thalassemia gene mutation were studied using cohort study. The cohort study was conducted from June to August 2022 by Prenatal Diagnosis Center of Sanya Women and Children's Hospital Managed by Shanghai Children's Medical Center. The phenotype and genotype were analyzed by hematological cytoanalyzer, automatic electrophoretic analysis system, and next-generation sequencing (NGS). And then, Sanger sequencing was used to verify the rare gene results. The results showed that the proband, her father, her uncle and her younger male cousin had discrete microcytosis (MCV 70.1 fl, 71.9 fl, 73.1 fl and 76.6 fl, respectively) and hypochromia (MCH 21.5 pg,22.0 pg,22.6 pg and 23.5 pg, respectively), elevated hemoglobin A2 level (5.3%, 5.4%, 5.4% and 5.5%, respectively), slightly elevated or normal fetal hemoglobin (Hb F), but no anemia. The proband was identified to have co-inherited ɑ-thalassemia (Hb Westmead gene heterozygous mutation, ɑwsɑ/ɑɑ) and ß-thalassemia with a rare -88 C>G (HBB: c.-138 C>G) heterozygous mutation (ß-88 C>G/ßN). Her mother had the same α-thalassemia as the proband. Her father, her uncle and her younger male cousin had the same rare -88 C>G heterozygous mutations as the proband. While her grandmother and younger brother were not carrier of thalassemia. In conclusion, 4 cases of rare -88 C>G(HBB:c.-138 C>G) heterozygous mutation had been detected in a Chinese family. Carriers of this beta-thalassemia are clinically asymptomatic. This study enriches the knowledge of the thalassemia mutation spectrum in Chinese people and provides valuable information for genetic counseling, prenatal diagnosis, and prevention of thalassemia, providing a scientific basis for improving the quality of birth population and preventing birth defects.


Assuntos
Talassemia alfa , Talassemia beta , Feminino , Humanos , Masculino , Talassemia alfa/diagnóstico , Talassemia alfa/genética , Globinas beta/genética , Talassemia beta/genética , Talassemia beta/diagnóstico , China , Estudos de Coortes , Genótipo , Biologia Molecular , Mutação
15.
Acta Orthop Belg ; 89(4): 719-726, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-38205766

RESUMO

Treatment of fibular fractures associated with extra-articular distal tibia fractures is technically challenging and the purpose of this study was to evaluate the use of intramedullary nail fixation of fibular fractures when associated with this fracture. Between January 2018 and December 2021, 33 patients presenting extra-articular distal tibia fractures and fibular fractures (AO/OTA 43A) were treated. Clinical and radiological data were collected during routine postoperative follow-ups. Thirty-one patients were monitored for a period of time ranging from 12 to 23 months, with an average follow-up of 17.5 ± 3.3 months. Fibular bone union took an average of 3.6 ± 0.9 months. At the last follow-up, the average fibular alignment and postoperative ankle talocrural angles were 1.8° and 9.1°, respectively. No detectable radiographic rotational malalignment and serious complications related to the fibular incision was observed. The average AOFAS and OMAS scores at the most recent follow-up were 88.3 ± 6.2 and 87.4 ± 6.0, respectively. Intramedullary nail fixation worked well to keep the fibula in place in fibular fractures connected to extra-articular distal tibia fractures.


Assuntos
Fraturas do Tornozelo , Fraturas da Tíbia , Humanos , Tíbia , Estudos Retrospectivos , Fraturas da Tíbia/diagnóstico por imagem , Fraturas da Tíbia/cirurgia , Fíbula
16.
Actas urol. esp ; 46(7): 442-446, sept. 2022. tab
Artigo em Espanhol | IBECS | ID: ibc-208696

RESUMO

Introducción y objetivos Nuestro objetivo es evaluar los resultados de la fitoterapia a largo plazo, centrándonos en el intervalo entre la fitoterapia y los tratamientos farmacológicos y los factores de riesgo que predisponen a dicho cambio en un seguimiento de 10 años. Material y métodos Se revisaron retrospectivamente los datos de los pacientes varones que tomaban fitoterapia para los síntomas del tracto urinario inferior (STUI) de leves a moderados entre enero y diciembre de 2010, a partir de una base de datos mantenida prospectivamente. Se realizó un seguimiento de los pacientes durante 10 años mediante consultas médicas presenciales y telefónicas. Resultados Ciento dos pacientes se sometieron al menos a un ciclo de fitoterapia para los STUI. Veinte (19,6%) pacientes resolvieron sus síntomas tras un ciclo fitoterápico y abandonaron el tratamiento, 27 (26,4%) continuaron con la fitoterapia y 52 (51%) cambiaron a bloqueadores alfa y/o inhibidores de la 5a-reductasa tras un intervalo medio de 24 meses. El motivo del cambio de tratamiento fue la sintomatología (n=45) o la progresión clínica (aumento del volumen residual n=15; retención urinaria, n=5). Los pacientes que cambiaron a fármacos sintéticos tenían una mediana de edad más alta (60 frente a 49), mayor volumen prostático (40 frente a 26cc) y antígeno prostático específico (1,9 frente a 0,9ng/ml), volumen residual más elevado (40 frente a 0cc) y una tasa de flujo máximo (Qmáx) más baja (12 frente a 15ml/s) en el momento de la presentación. Conclusiones El 46% de los pacientes con STUI leves o moderados sometidos a fitoterapia estarán libres de tratamiento o seguirán con la fitoterapia a los 10 años de la presentación de la enfermedad. Los pacientes de mayor edad, con próstatas más grandes, con volumen residual y antígeno protático específico más alto, deben ser informados sobre un mayor riesgo de progresión sintomática o clínica (AU)


Introduction and objectives Our objective is to assess the long-term results of phytotherapy, focusing on the interval between phytotherapy and pharmacological treatment and the predisposing risk factors to such switch on a 10-year follow-up. Material and methods The data of patients taking phytotherapy for mild to moderate male lower urinary tract symptoms (LUTS) from January to December 2010 were retrospectively reviewed from a prospectively maintained database. Patients were followed for 10 years through medical visits and telephone consultations. Results 102 patients underwent at least one cycle of phytotherapy for LUTS. Twenty (19.6%) patients resolved their symptoms after one phytotherapy cycle and stopped any treatment, 27 (26.4%) continued phytotherapy, and 52 (51%) switched to alpha-blockers and/or 5a-reductase inhibitors after a median interval of 24 months. The reasons for treatment switch were symptoms (n=45) or clinical progression (increased residual volume n=15; urinary retention, n=5). Patients switching to synthetic drugs had median higher age (60 vs 49), prostate volume (40 vs 26cc), prostate specific antigen (PSA) (1.9 vs 0.9ng/ml), residual volume (40 vs 0cc), and a lower maximum flow rate (Qmax) (12 vs 15ml/sec) at presentation. Conclusions 46% patients with mild to moderate LUTS undergoing phytotherapy will be either free of treatment or still on phytotherapy at 10 years from disease presentation. Older patients with larger prostates, increased residual volume and PSA, should be informed regarding their higher risk of symptomatic or clinical progression: the risk of a treatment switch to alpha-blockers or 5a-reductase inhibitors becomes an actual fact after an average span of 2 years (AU)


Assuntos
Humanos , Masculino , Adulto , Pessoa de Meia-Idade , Idoso , Fitoterapia , Extratos Vegetais/uso terapêutico , Oxirredutases/uso terapêutico , Hiperplasia Prostática/tratamento farmacológico , Sintomas do Trato Urinário Inferior/tratamento farmacológico , Antígeno Prostático Específico , Estudos Retrospectivos , Seguimentos , Fatores de Risco
17.
Beijing Da Xue Xue Bao Yi Xue Ban ; 54(4): 628-635, 2022 Aug 18.
Artigo em Chinês | MEDLINE | ID: mdl-35950384

RESUMO

OBJECTIVE: To investigate the expression of fibroblast growth factor receptor 2 (FGFR2) in clear cell renal cell carcinoma (ccRCC; or kidney renal clear cell carcinoma, KIRC), to analyze the relationship between the expression of FGFR2 and the clinical pathological features and prognosis of ccRCC, to study the relationship between the expression of FGFR2 and other molecules, and to explore its role in the development of ccRCC. METHODS: Gene expressional and clinical information of ccRCC patients were downloaded from The Cancer Genome Atlas (TCGA) and Gene Expression Omnibus(GEO) database. Next, the data were transformed and collated. In the study, 104 clinical ccRCC samples and corresponding paracancerous normal tissue samples were collected from Department of Urology, Peking University First Hospital. Immunohistochemistry (IHC) was performed and the staining results were scored, so as to compare the expression of FGFR2 in ccRCC and paracancerous normal tissues. Besides, quantify real-time polymerase chain reaction (qRT-PCR) was used to detect the mRNA expression level of FGFR2 in normal renal epithelial cell lines (293) and ccRCC cell lines (786-O, 769-P, OSRC-2, Caki-1, ACHN, and A498). In addition, the relationship between FGFR2 expression and clinical pathological characteristics (including TNM staging and pathological grading) and survival prognosis in ccRCC patients was further analyzed. Furthermore, the relationship between FGFR2 expression and B cells, T cells, natural killer (NK) cells and neutrophil infiltration in the ccRCC patients was analyzed, and the Biological General Repository for Interactionh Datasets (BioGRID) was used to builds protein-protein interaction (PPI) networks to study molecules that interacted with the FGFR2 protein. RESULTS: In the TCGA database, the expression of FGFR2 was down-regulated in ccRCC tissue samples compared with normal tissue samples, and the expression in the GEO database also showed this differences. Furthermore, FGFR2 expression was downregulated in ccRCC clinical samples and ccRCC cell lines, compared with corresponding paracancerous normal tissue or normal renal epithelial cell lines. In addition, FGFR2 high expression was associated with earlier, lower-level ccRCC and was associated with a better prognosis in the patients with ccRCC. Moreover, FGFR2 expression was not significantly related to B cells, T cells, NK cells and neutrophil infiltration, and the PPI network showed that FGFR2 protein interacted with certain molecules. CONCLUSION: Our work sheds light on the potential role of FGFR2 in the development of ccRCC, suggesting that FGFR2 may serve as a prognostic marker and potential therapeutic target for patients with ccRCC.


Assuntos
Carcinoma de Células Renais , Neoplasias Renais , Receptor Tipo 2 de Fator de Crescimento de Fibroblastos/genética , Biomarcadores Tumorais/análise , Carcinoma de Células Renais/patologia , Humanos , Neoplasias Renais/patologia , Prognóstico
18.
Phys Rev Lett ; 129(2): 021803, 2022 Jul 08.
Artigo em Inglês | MEDLINE | ID: mdl-35867435

RESUMO

Neutrino charged-current quasielastic-like scattering, a reaction category extensively used in neutrino oscillation measurements, probes nuclear effects that govern neutrino-nucleus interactions. This Letter reports the first measurement of the triple-differential cross section for ν_{µ} quasielastic-like reactions using the hydrocarbon medium of the MINERvA detector exposed to a wideband beam spanning 2≤E_{ν}≤20 GeV. The measurement maps the correlations among transverse and longitudinal muon momenta and summed proton kinetic energies, and compares them to predictions from a state-of-art simulation. Discrepancies are observed that likely reflect shortfalls with modeling of pion and nucleon intranuclear scattering and/or spectator nucleon ejection from struck nuclei. The separate determination of leptonic and hadronic variables can inform experimental approaches to neutrino-energy estimation.

19.
Zhonghua Wai Ke Za Zhi ; 60(6): 558-566, 2022 Jun 01.
Artigo em Chinês | MEDLINE | ID: mdl-35658343

RESUMO

Objective: To explore the effect of atlantoaxial fusion on the growth and development of children's cervical spine. Methods: The clinical data of 12 children with atlantoaxial dislocation who underwent posterior atlantoaxial fusion at Department of Orthopaedics,the 909th Hospital of Joint Logistics Support Force of Chinese People's Liberation Army from June 2002 to September 2013 were retrospective analyzed. There were 7 males and 5 females,with age of (8.1±3.1)years (range:3 to 13 years).Nine cases were traumatic and 3 cases were congenital malformations,1 of the children had Down syndrome. All children underwent posterior atlantoaxial fusion. Furthermore,the information of the height and anteroposterior width of the cervical vertebral bodies and vertical growth rate of the fusion mass were collected from all patients immediately postoperatively and during the follow-up.The range of motion in cervical spine were collected preoperatively and during follow-up period. Data were compared using independent sample t test, paired sample t test and repeated-measurement. Results: All 12 children had regular follow-up within (122.4±25.3)months(range:65 to 163 months). The height and anteroposterior width of the cervical vertebral bodies were similar to these results with those in published reports of growth in normal children of the same age(all P<0.01). At the last follow-up,atlantoaxial fusion of 11 cases had substantial growth (vertical growth rate of the fusion mass:11 cases ≥10%, 1 case <10%);the range of motion in cervical spine was close to the normal level (flexion(55.2±5.0)°,extension (65.3±4.9)°,left bending (41.7±4.5)°,right bending (42.4±4.4)°,left rotation (66.4±5.6)°,right rotation (68.5±5.8)°). Conclusions: Atlantoaxial fusion surgery is satisfactory in the treatment of pediatric atlantoaxial dislocation.During the follow-up,the growth and development of the cervical spine is close to that of normal children of the same age.In long-term observation,it has been found that the operation has no negative effect on the growth and development of the children's cervical spine.


Assuntos
Articulação Atlantoaxial , Luxações Articulares , Fusão Vertebral , Articulação Atlantoaxial/anormalidades , Articulação Atlantoaxial/cirurgia , Vértebras Cervicais/cirurgia , Criança , Anormalidades Congênitas , Feminino , Crescimento e Desenvolvimento , Humanos , Luxações Articulares/cirurgia , Masculino , Estudos Retrospectivos , Fusão Vertebral/métodos , Resultado do Tratamento
20.
Beijing Da Xue Xue Bao Yi Xue Ban ; 54(2): 363-368, 2022 Apr 18.
Artigo em Chinês | MEDLINE | ID: mdl-35435205

RESUMO

OBJECTIVE: To discover the factors that may affect the use of selective tracheostomy among patients who have undergone head and neck surgeries with free flap reconstruction, so that the patients will not need tracheostomy nor receive the unnecessary treatment. METHODS: Five hundred and thirty-three patients who had undergone head and neck surgery with free flap reconstruction operated by the same team of surgery at Department of Oral and Maxillofacial Surgery at Peking University School of Stomatology from 2015 to 2016 were reviewed. Three hundred and twenty-one (60.2%) of these patients underwent selective tracheostomy. All the patients' demographic information, operation-related information, prior treatments, comorbidities and complications were recorded and analyzed. RESULTS: The patients with defects of the tongue, mouth floor, oropharynx and bilateral mandible, who underwent neck dissection and with previous radiotherapy and smoking habit were more likely to get selective tracheostomy. Usage of bulky soft tissue flap might also add to the risk of airway obstruction and the need of selective tracheostomy, while other factors were not significantly related to the risk of postoperative airway obstruction and the patients could be kept safe without selective tracheostomy. Most cases without tracheostomy were kept safe except one case, while 8.39% of the patients with tracheostomy suffered from tracheostomy related complications, mainly pneumonia and hemorrhage of the tracheostomy wound, yet none led to serious consequences or even death. CONCLUSION: Selective tracheostomy is not necessary for patients who have undergone head and neck surgeries with free flap reconstruction except that there are defects at the tongue, oropharynx and mandible. Neck dissection, bulky soft tissue flap reconstruction, previous radiotherapy and smoking habit may also add to the risk of postoperative airway obstruction, while a favorable decision would involve a combination of all the above factors to assure the safety of the postoperative airway for the patients undergone head and neck surgeries with free flap reconstruction.


Assuntos
Obstrução das Vias Respiratórias , Retalhos de Tecido Biológico , Neoplasias de Cabeça e Pescoço , Procedimentos de Cirurgia Plástica , Traqueostomia , Obstrução das Vias Respiratórias/cirurgia , Neoplasias de Cabeça e Pescoço/complicações , Neoplasias de Cabeça e Pescoço/cirurgia , Humanos , Complicações Pós-Operatórias/epidemiologia , Complicações Pós-Operatórias/cirurgia , Procedimentos de Cirurgia Plástica/efeitos adversos , Estudos Retrospectivos
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