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1.
Beijing Da Xue Xue Bao Yi Xue Ban ; 52(5): 863-869, 2020 Oct 18.
Artigo em Zh | MEDLINE | ID: mdl-33047720

RESUMO

OBJECTIVE: To explore the feasibility, safety and mid-term outcome of minimally invasive cardiac surgery coronary artery bypass grafting (MICS CABG) surgery. METHODS: Data of patients who underwent MICS CABG between November 2015 and November 2017 in Peking University Third Hospital were retrospectively analyzed. Results were compared with the patients who underwent off-pump coronary aortic bypass grafting (OPCABG) surgery over the same period. The two groups were matched in propensity score matching method according to age, gender, left ventricular ejection fraction, body mass index, severity of coronary artery disease, smoking, diabetes mellitus, hypertension, hyperlipidemia, renal insufficiency, history of cerebrovascular accident, and history of chronic obstructive pulmonary disease (COPD). RESULTS: There were 85 patients in MICS CABG group, including 68 males (80.0%) and 17 females (20%), with an average age of (63.8±8.7) years; 451 patients were enrolled in OPCABG group, and 85 patients were matched by propensity score as control group (OPCABG group). There was no significant difference in general clinical characteristics (P>0.05). The average grafts of MICS CABG and OPCABG were 2.35±0.83 and 2.48±0.72 respectively (P=0.284). No conversion to thoracotomy in MICS CABG group or cardiopulmonary bypass in neither group occurred. There was no significant difference in the major adverse cardiovascular events (MACCEs, 1.17% vs. 3.52%), reoperation (2.34 vs. 3.52%), new-onset atrial fibrillation rate (4.70% vs. 3.52%) or new-onset renal insufficiency rate (1.17% vs. 0%) between MICS CABG group and OPCABG group (P>0.05). The operation time in MICS CABG group was longer than that in OPCABG group [(282.8±55.8) min vs. (246.8±56.9) min, P < 0.05], while the time of ventilator supporting(16.9 h vs. 29.6 h), hospitalization in ICU [(29.3±20.8) h vs. (51.5±48.3) h] and total hospitalization [(18.3±3.2) d vs. (25.7±4.2) d] in MICS CABG group were shorter than those in OPCABG group (P < 0.05). The total patency rate (A+B levels) of MICS CABG was 96.5% after surgery. There was no significant difference in MACCEs rate between the two groups [1.18%(1/85) vs. 3.61%(3/83), P>0.05] in 1-year follow up. CONCLUSION: The MICS CABG surgery is a safe and feasible procedure with good clinical results in early and mid-term follow-up.


Assuntos
Doença da Artéria Coronariana , Idoso , Ponte de Artéria Coronária , Doença da Artéria Coronariana/cirurgia , Estudos de Viabilidade , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Volume Sistólico , Resultado do Tratamento , Função Ventricular Esquerda
2.
Zhonghua Fu Chan Ke Za Zhi ; 55(2): 106-111, 2020 Feb 25.
Artigo em Zh | MEDLINE | ID: mdl-32146739

RESUMO

Objective: To evaluate the efficacy of cell free DNA (cf-DNA) screening in prenatal care by analyzing the follow-up information and pregnancy outcomes. Methods: All cf-DNA cases conducted in Women's Hospital of Nanjing Medical University from August 2011 to December 2017 were enrolled. The general information of the pregnancies, cf-DNA results, confirmatory testing results, and the follow-up results were collected. The pregnancy outcomes were analyzed in cases with low risk cf-DNA results as well as with high risk results for common trisomies, which were trisomy 21 (T21), trisomy 18 (T18), and trisomy 13 (T13). The sensitivity, specificity, positive predictive value and negative predictive value of cf-DNA screening were calculated. Results: (1) A total of 43 615 cf-DNA cases were involved, with 44 cases (0.10%, 44/43 615) test failure results, 314 cases (0.72%, 314/43 571) high risk results for common trisomies and 43 257 cases (99.27%, 43 257/43 571) low risk results. (2) Among 277 cases (88.21%, 277/314) high risk cases were successfully followed up, and 228 cases (82.31%, 228/277) underwent invasive confirmatory prenatal diagnosis. In the low risk results, 36 826 cases (85.13%, 36 826/43 257) were successfully followed up, and 572 (1.55%, 572/36 826) cases were found to have adverse pregnancy outcomes, among which 4 false negative cf-DNA results were confirmed. (3) In the 37 103 successfully followed up cf-DNA cases, the sensitivity for T21, T18, T13 were calculated as 97.96%, 96.67% and 100.00%, respectively; the specificity for T21, T18, T13 were calculated as 99.96%, 99.95% and 99.95%, respectively. The positive predictive value for T21, T18, T13 were calculated as 90.57%, 63.04% and 17.39%, respectively. The negative predictive value for T21, T18, T13 were calculated as 99.99%, 99.98% and 100.00%. Conclusions: Cf-DNA is effective in detecting common trisomies, with a high sensitivity and specificity. However, the follow-up information revealed several potential limitations in current clinical practice, such as a number of cases with high risk results rejected invasive confirmatory testing, as well as the genetic diagnostic results for most low risk cases with an adverse pregnancy outcome aren't obtained. Genetic counseling and the follow-up for all the cf-DNA cases should be emphasized in the future.


Assuntos
Ácidos Nucleicos Livres , Transtornos Cromossômicos/diagnóstico , Diagnóstico Pré-Natal/métodos , Trissomia/diagnóstico , Transtornos Cromossômicos/genética , Cromossomos Humanos Par 18/genética , Feminino , Seguimentos , Testes Genéticos/métodos , Humanos , Valor Preditivo dos Testes , Gravidez , Resultado da Gravidez , Sensibilidade e Especificidade , Trissomia/genética , Síndrome da Trissomia do Cromossomo 13 , Síndrome da Trissomía do Cromossomo 18 , Ultrassonografia Pré-Natal
3.
Clin Radiol ; 73(6): 591.e9-591.e15, 2018 06.
Artigo em Inglês | MEDLINE | ID: mdl-29459137

RESUMO

AIM: To evaluate microstructural visual pathway damage in patients with primary glaucoma (PG) by using 3 T diffusion kurtosis imaging (DKI). MATERIALS AND METHODS: The study was approved by the ethics committee, and all participants provided written informed consent. Ten patients with PG were examined. Twenty healthy individuals served as control subjects. DKI was performed with a GE Silent 3 T magnetic resonance imaging (MRI) unit. Mean diffusivity (MD), fractional anisotropy (FA), and mean kurtosis (MK) maps were automatically created. Mean MK, MD, and FA values were calculated for each part of the visual pathway. RESULTS: No abnormalities in the shape and signal intensity were observed along the entire visual pathway in patients and the control group on the conventional MRI. Higher MD, and lower MK and FA were observed in the optic nerves (ON), lateral geniculate nucleus (LGN), optic radiations (OR), and visual cortex (VCx) of PG patients, as compared with control subjects. A significantly higher MD was observed in the ON (p<0.01), and significantly lower FA was observed in OR (p<0.05). Additionally, significantly lower MK was observed in the ON, LGN, and VCx, except for OR (p<0.01). Changes of DKI parameters in the ON were the most distinct. CONCLUSION: Glaucoma is a complex neurological disease that affects the entire visual pathway. MK derived from DKI would be a better biomarkers than FA and MD in detecting microstructural damage.


Assuntos
Glaucoma/patologia , Vias Visuais/patologia , Adulto , Idoso , Estudos de Casos e Controles , Imagem de Difusão por Ressonância Magnética/métodos , Feminino , Corpos Geniculados/patologia , Humanos , Masculino , Pessoa de Meia-Idade , Nervo Óptico/patologia , Córtex Visual/patologia
5.
Zhonghua Yu Fang Yi Xue Za Zhi ; 52(7): 697-702, 2018 Jul 06.
Artigo em Zh | MEDLINE | ID: mdl-29996295

RESUMO

Objective: To investigate the snoring status of school-aged children in Beijing and explore the association of snoring and academic performance. Methods: A total of 7 925 children aged from 6 to 14 were selected from 15 primary and middle schools at 7 districts (Xicheng, Chaoyang, Changping, Shunyi, Fangshan, Huairou and Mentougou) in Beijing in 2015, using multi-stage stratified cluster random sampling method. The recruited children were asked to complete the Pediatric Sleep Questionnaire (PSQ) and a questionnaire related to sleep behavior. The multiplelogistic regression was used to analyze the association of snoring and academic performance. Results: A total of 794 (12.44%) children showed a decline in academic performance among 6 383 eligible respondentsfor data analysis. 580 (9.08%) children with snoring was identified, of which 333 and 247 were in frequency of 1-2 times per week and frequency of ≥3 times per week, respectively; 357, 170 and 53 were in snoring grade Ⅰ, grade Ⅱ and grade Ⅲ, respectively. Compared with the children without snoring, the OR (95%CI) for children with 1-2 times per week and ≥3 times per week was 1.363 (1.000-1.857) and 1.605 (1.135-2.269), respectively; and the OR (95%CI) for children with grade Ⅰ, grade Ⅱ and grade Ⅲ of snoring was 1.226 (0.893-1.683), 1.595 (1.062-2.397) and 2.31 (1.17-4.565), respectively. Conclusion: There is a statistical relationship between snoring and the decline of academic performance. The decline of academic performance positively associated with increased frequency and grade of snoring.


Assuntos
Desempenho Acadêmico/estatística & dados numéricos , Ronco/epidemiologia , Adolescente , Pequim/epidemiologia , Criança , Humanos , Prevalência , Inquéritos e Questionários
6.
Reprod Domest Anim ; 52(5): 763-774, 2017 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-28432707

RESUMO

Histone deacetylase inhibitors (HDACis) can change the histone acetylation and significantly enhance the developmental competence of the pre-implantation SCNT embryo. To select a proper histone deacetylase inhibitor to improve the success rate and potentially developmental ability of handmade cloning (HMC) embryos of miniature porcine, we compared the effect of two histone deacetylase inhibitors (SAHA vs. VPA) on HMC embryo development, their histone acetylation level and the expression level of relevant genes. The blastocyst rate and number of blastocyst cells of HMC embryos treated with SAHA (SAHA-HMC) or VPA (VPA-HMC) were significantly higher than those of control (Control-HMC), respectively, but there were no significant difference between SAHA-HMC and VPA-HMC groups. In addition, the acetylation level (AcH4K8) of Control-HMC and VPA-HMC embryos at the blastocyst stage, respectively, was significantly lower than that of in vitro fertilized (IVF) and SAHA-HMC embryos. However, the acetylation H4K8 of the blastocysts had no significant difference between SAHA-HMC and the IVF groups. The SAHA-HMC blastocysts indicated comparative expression levels of Oct4 and HDAC1 (histone deacetyltransferase gene) with those of IVF blastocysts. In contrast, the expression levels of Oct4 were lower and those of HDAC1 were higher in the VPA-HMC and Control-HMC blastocysts, respectively, compared to those of the IVF blastocysts. Our results demonstrated that the HMC embryos treated by SAHA could promote the pre-implantation development and increase the levels of histone H4K8 acetylation and the expression of the OCT4 gene, yet decrease the expression of the HDAC1 gene to the comparable level of the IVF embryos. Our results proved that SAHA may be a better histone deacetylase inhibitor for porcine HMC compared to VPA, and furthermore, it may indicate that SAHA can effectively correct the abnormal histone acetylation during the HMC embryo development and subsequently improve the full-term developmental potential of the HMC embryos after embryo transplantation.


Assuntos
Clonagem de Organismos/veterinária , Desenvolvimento Embrionário/efeitos dos fármacos , Inibidores de Histona Desacetilases/farmacologia , Histonas/metabolismo , Ácidos Hidroxâmicos/farmacologia , Porco Miniatura/embriologia , Acetilação , Animais , Clonagem de Organismos/métodos , Transferência Embrionária , Fertilização in vitro , Técnicas de Transferência Nuclear/veterinária , Suínos , Ácido Valproico/farmacologia , Vorinostat
7.
J Phys Chem A ; 119(28): 7404-17, 2015 Jul 16.
Artigo em Inglês | MEDLINE | ID: mdl-25751420

RESUMO

The kinetics and mechanism of the CH3 + O reaction and related isomerization-decomposition of CH3O and CH2OH radicals have been studied by ab initio molecular orbital theory based on the CCSD(T)/aug-cc-pVTZ//CCSD/aug-cc-pVTZ, CCSD/aug-cc-pVDZ, and G2M//B3LYP/6-311+G(3df,2p) levels of theory. The predicted potential energy surface of the CH3 + O reaction shows that the CHO + H2 products can be directly generated from CH3O by the TS3 → LM1 → TS7 → LM2 → TS4 path, in which both LM1 and LM2 are very loose and TS7 is roaming-like. The result for the CH2O + H reaction shows that there are three low-energy barrier processes including CH2O + H → CHO + H2 via H-abstraction and CH2O + H → CH2OH and CH2O + H → CH3O by addition reactions. The predicted enthalpies of formation of the CH2OH and CH3O radicals at 0 K are in good agreement with available experimental data. Furthermore, the rate constants for the forward and some key reverse reactions have been predicted at 200-3000 K under various pressures. Based on the new reaction pathway for CH3 + O, the rate constants for the CH2O + H and CHO + H2 reactions were predicted with the microcanonical variational transition-state/Rice-Ramsperger-Kassel-Marcus (VTST/RRKM) theory. The predicted total and individual product branching ratios (i.e., CO versus CH2O) are in good agreement with experimental data. The rate constant for the hydrogen abstraction reaction of CH2O + H has been calculated by the canonical variational transition-state theory with quantum tunneling and small-curvature corrections to be k(CH2O + H → CHO + H2) = 2.28 × 10(-19) T(2.65) exp(-766.5/T) cm(3) molecule(-1) s(-1) for the 200-3000 K temperature range. The rate constants for the addition giving CH3O and CH2OH and the decomposition of the two radicals have been calculated by the microcanonical RRKM theory with the time-dependent master equation solution of the multiple quantum well system in the 200-3000 K temperature range at 1 Torr to 100 atm. The predicted rate constants are in good agreement with most of the available data.

9.
Zhonghua Xue Ye Xue Za Zhi ; 45(2): 156-162, 2024 Feb 14.
Artigo em Zh | MEDLINE | ID: mdl-38604792

RESUMO

Objective: To investigate the efficacy and safety of combining venetoclax (VEN) with hypomethylated drugs (HMA) in the treatment of higher-risk (IPSS-R score >3.5) myelodysplastic syndromes (MDS) . Methods: From March 2021 to December 2022, forty-five MDS patients with intermediate and high risk were treated with VEN in combination with HMAs. Clinical data were collected and analyzed retrospectively, including gender, age, MDS subtype, IPSS-R score, treatment regimen, and efficacy, etc. Kaplan-Meier method and Cox regression model were used to analyze univariate and multivariate of survival prognosis. Results: ①Forty-five patients with MDS, including ninety-one percent were classified as high or very high risk. According to the 2023 consensus proposal for revised International Working Group response criteria for higher-risk MDS, the overall response rate (ORR) was 62.2% (28/45), with the complete response rate (CR) was 33.3% (15/45). For twenty-five naïve MDS, the ORR was 68% (17/25) and the CR rate was 32% (8/25). In nonfirst-line patients, the ORR and CR were 55% (11/20) and 35% (7/20) respectively. The median cycle to best response was 1 (1-4). ②With a median followup of 189 days, the median overall survival (OS) time was 499 (95% confidence interval, 287-711) days, and most patients died from disease progression. Responders had a significantly better median OS time than nonresponders (499 days vs 228 days, P<0.001). Multifactor analysis revealed that IPSS-R score and response to treatment were independent prognostic factors for OS; the presence of SETBP1 gene mutations was associated with a longer hospital stay (51.5 days vs 27 days, P=0.017) . Conclusions: There is clinical benefit of venetoclax in combination with hypomethylated agents in patients with higher-risk MDS, but adverse events such as severe hypocytopenia during treatment should be avoided.


Assuntos
Síndromes Mielodisplásicas , Sulfonamidas , Humanos , Estudos Retrospectivos , Prognóstico , Síndromes Mielodisplásicas/genética , Compostos Bicíclicos Heterocíclicos com Pontes/uso terapêutico
10.
Zhonghua Xue Ye Xue Za Zhi ; 45(7): 651-659, 2024 Jul 14.
Artigo em Zh | MEDLINE | ID: mdl-39231769

RESUMO

Objective: To analyze the clinical characteristics and prognosis of patients with myelodysplastic syndrome (MDS) with a bone marrow nucleated erythroid cell proportion of greater than or equal to 50% (MDS-E) . Methods: The clinical characteristics and prognostic factors of patients with MDS-E were retrospectively analyzed by collecting the case data of 1 436 newly treated patients with MDS diagnosed in the Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences from May 2014 to June 2023. Results: A total of 1 436 newly diagnosed patients with complete data were included in the study, of which 337 (23.5%) patients with MDS-E had a younger age of onset and lower neutrophil and platelet counts compared with those in patients with an erythroid cell proportion of less than 50% (MDS-NE) (all P<0.05). The proportion of MDS cases with ring sideroblasts (MDS-RS) was higher in the MDS-E group than in the MDS-NE group, and multi-hit TP53 mutations were more enriched in the MDS-E group than in the MDS-NE group (all P<0.05). Among patients with MDS-RS, the frequency of complex karyotypes and the TP53 mutation rate were significantly lower in the MDS-E group than in the MDS-NE group (0 vs 11.9%, P=0.048 and 2.4% vs 15.1%, P=0.053, respectively). Among patients with TP53 mutations, the frequencies of complex karyotypes and multi-hit TP53 mutations were significantly higher in the MDS-E group than in the MDS-NE group (87.5% vs 64.6%, P=0.003 and 84.0% vs 54.2%, P<0.001, respectively). Survival analysis of patients with MDS-RS found that the overall survival (OS) in the MDS-E group was better than that in the MDS-NE group [not reached vs 63 (95% CI 53.3-72.7) months, P=0.029]. Among patients with TP53 mutations and excess blasts, the OS in the MDS-E group was worse than that in the MDS-NE group [6 (95% CI 2.2-9.8) months vs 12 (95% CI 8.9-15.1) months, P=0.022]. Multivariate analysis showed that age of ≥65 years (HR=2.47, 95% CI 1.43-4.26, P=0.001), mean corpuscular volume (MCV) of ≤100 fl (HR=2.62, 95% CI 1.54-4.47, P<0.001), and TP53 mutation (HR=2.31, 95% CI 1.29-4.12, P=0.005) were poor prognostic factors independent of the Revised International Prognostic Scoring System (IPSS-R) prognosis stratification in patients with MDS-E. Conclusion: Among patients with MDS-RS, MDS-E was strongly associated with a lower proportion of complex karyotypes and TP53 mutations, and the OS in the MDS-E group was longer than that in the MDS-NE group. Among patients with TP53 mutations, MDS-E was strongly associated with complex karyotypes and multi-hit TP53 mutations, and among TP53-mutated patients with excess blasts, the OS in the MDS-E group was shorter than that in the MDS-NE group. Age of ≥65 years, MCV of ≤100 fl, and TP53 mutation were independent adverse prognostic factors affecting OS in patients with MDS-E.


Assuntos
Mutação , Síndromes Mielodisplásicas , Humanos , Síndromes Mielodisplásicas/genética , Síndromes Mielodisplásicas/diagnóstico , Prognóstico , Estudos Retrospectivos , Medula Óssea/patologia , Células da Medula Óssea , Masculino , Feminino , Taxa de Sobrevida , Proteína Supressora de Tumor p53/genética , Pessoa de Meia-Idade
11.
Artigo em Zh | MEDLINE | ID: mdl-37599237

RESUMO

Objective: To analyze the clinical and prognostic characteristics of rapid eye movement sleep related obstructive sleep apnea (REM-OSA) in children. Methods: A retrospective analysis was performed on the clinical data of 62 children aged from 2 to 14 years who were admitted to Beijing Children's Hospital, Capital Medical University from December 2017 to April 2021, diagnosed with moderate to severe OSA by polysomnography monitoring (PSG), underwent adenoid tonsillectomy, and completed follow-up 6 months after surgery. There were 45 males (72.6%) and 17 females (27.4%). The age range was 2.0-12.3 years. All children completed the clinical data collection, PSG, OSA-18 quality of life questionnaire and Children's Sleep questionnaire-sleep related breathing disorder subscale at baseline. PSG and OSA-18 quality of life questionnaire were reexamined at 6 months after surgery. Children were divided into REM-OSA group (33 cases) and non-REM-OSA group (29 cases) according to whether the obstructive apnea-hypopnea index (OAHI) during rapid eye movement sleep and OAHI during non-rapid eye movement sleep ratio was≥2. Baseline PSG parameters and scale scores, 6-month postoperative cure rate and OSA-18 quality of life questionnaire scores of the 2 groups were compared, and statistical analysis was performed using SPSS 23.0 software. Results: There were no significant differences in age, sex, body mass index, neck circumference/height ratio, overweight or obesity, history of disease, tonsil and adenoid size between the two groups (all P>0.05). Compared with non-REM-OSA group, REM-OSA group had higher oxygen desaturation index and proportion of SpO2<90% of total sleep time (Z=-2.723, P=0.006;Z=-3.414; P=0.001 respectively), and lower SpO2 nadir (Z=-3.957, P<0.001). The proportion of obstructive apnea in total respiratory events (related to anatomical factors) in REM-OSA group was higher than that in non-REM-OSA group (t=2.840, P=0.006). However, the proportion of central apnea in total respiratory events and arousal index (related to functional factors) in REM-OSA group was lower than that in non-REM-OSA group (t=-2.597, P=0.012;Z=-2.956, P=0.003), and there were no significant differences in other PSG parameters between the two groups (all P>0.05). There was an interaction effect between the two groups in the change trend of OSA cure rate at 6 months after surgery under different baseline OAHI (χ2=4.282, P=0.039). Conclusions: The weight of anatomic factors and functional factors in the etiology of children with REM-OSA and non-REM OSA was different, and the postoperative OSA cure rate of children with different baseline OAHI changed in reverse trend.


Assuntos
Apneia Obstrutiva do Sono , Sono REM , Feminino , Masculino , Criança , Humanos , Pré-Escolar , Prognóstico , Qualidade de Vida , Estudos Retrospectivos
12.
Zhonghua Xue Ye Xue Za Zhi ; 44(5): 373-379, 2023 May 14.
Artigo em Zh | MEDLINE | ID: mdl-37550186

RESUMO

Objective: To explore the molecular features of chronic myelomonocytic leukemia (CMML) . Methods: According to 2022 World Health Organization (WHO 2022) classification, 113 CMML patients and 840 myelodysplastic syndrome (MDS) patients from March 2016 to October 2021 were reclassified, and the clinical and molecular features of CMML patients were analyzed. Results: Among 113 CMML patients, 23 (20.4%) were re-diagnosed as acute myeloid leukemia (AML), including 18 AML with NPM1 mutation, 3 AML with KMT2A rearrangement, and 2 AML with MECOM rearrangement. The remaining 90 patients met the WHO 2022 CMML criteria. In addition, 19 of 840 (2.3%) MDS patients met the WHO 2022 CMML criteria. At least one gene mutation was detected in 99% of CMML patients, and the median number of mutations was 4. The genes with mutation frequency ≥ 10% were: ASXL1 (48%), NRAS (34%), RUNX1 (33%), TET2 (28%), U2AF1 (23%), SRSF2 (21.1%), SETBP1 (20%), KRAS (17%), CBL (15.6%) and DNMT3A (11%). Paired analysis showed that SRSF2 was frequently co-mutated with ASXL1 (OR=4.129, 95% CI 1.481-11.510, Q=0.007) and TET2 (OR=5.276, 95% CI 1.979-14.065, Q=0.001). SRSF2 and TET2 frequently occurred in elderly (≥60 years) patients with myeloproliferative CMML (MP-CMML). U2AF1 mutations were often mutually exclusive with TET2 (OR=0.174, 95% CI 0.038-0.791, Q=0.024), and were common in younger (<60 years) patients with myelodysplastic CMML (MD-CMML). Compared with patients with absolute monocyte count (AMoC) ≥1×10(9)/L and <1×10(9)/L, the former had a higher median age of onset (60 years old vs 47 years old, P<0.001), white blood cell count (15.9×10(9)/L vs 4.4×10(9)/L, P<0.001), proportion of monocytes (21.5% vs 15%, P=0.001), and hemoglobin level (86 g/L vs 74 g/L, P=0.014). TET2 mutations (P=0.021) and SRSF2 mutations (P=0.011) were more common in patients with AMoC≥1×10(9)/L, whereas U2AF1 mutations (P<0.001) were more common in patients with AMoC<1×10(9)/L. There was no significant difference in the frequency of other gene mutations between the two groups. Conclusion: According to WHO 2022 classification, nearly 20% of CMML patients had AMoC<1×10(9)/L at the time of diagnosis, and MD-CMML and MP-CMML had different molecular features.


Assuntos
Leucemia Mieloide Aguda , Leucemia Mielomonocítica Crônica , Síndromes Mielodisplásicas , Humanos , Idoso , Pessoa de Meia-Idade , Leucemia Mielomonocítica Crônica/genética , Prognóstico , Fator de Processamento U2AF/genética , Mutação , Síndromes Mielodisplásicas/genética , Leucemia Mieloide Aguda/genética
13.
Zhonghua Xue Ye Xue Za Zhi ; 44(4): 276-283, 2023 Apr 14.
Artigo em Zh | MEDLINE | ID: mdl-37356995

RESUMO

Objective: To evaluate the clinical characteristics and prognostic factors of patients with Philadelphia-negative myeloproliferative neoplasm-accelerated phase/blast phase (MPN-AP/BP) . Methods: A total of 67 patients with MPN-AP/BP were enrolled from February 2014 to December 2021 at the Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences. Their clinical features and prognostic factors were analyzed retrospectively. Results: ① Sixty-seven patients with MPN-AP/BP with a median age of 60 (range, 33-75) years, including 31 males (46.3% ) and 36 females (53.7% ) , were analyzed. Forty-eight patients progressed from primary myelofibrosis (PMF) , and 19 progressed from other myeloproliferative neoplasms (MPNs) , which included polycythemia vera, essential thrombocythemia, and MPN unclassifiable. Patients who progressed from PMF had higher lactate dehydrogenase (LDH) levels than those who progressed from other MPNs (925.95 vs. 576.2 U/L, P=0.011) , and there were higher proportions of patients who progressed from PMF with splenomegaly (81.4% vs. 57.9% , P=0.05) , a myelofibrosis grade of ≥2 (93.6% vs. 63.2% , P=0.004) , and a shorter duration from diagnosis to the transformation to AP/BP (28.7 vs. 81 months, P=0.001) . ② JAK2V617F, CALR, and MPLW515 were detected in 41 (61.2% ) , 13 (19.4% ) , and 3 (4.5% ) patients, respectively, whereas 10 (14.9% ) patients did not have any driver mutations (triple-negative) . Other than driver mutations, the most frequently mutated genes were ASXL1 (42.2% , n=27) , SRSF2 (25% , n=16) , SETBP1 (22.6% , n=15) , TET2 (20.3% , n=13) , RUNX1 (20.3% , n=13) , and TP53 (17.2% , n=11) . The ASXL1 mutation was more enriched (51.1% vs. 21.1% , P=0.03) , and the median variant allele fraction (VAF) of the SRSF2 mutation (median VAF, 48.8% vs. 39.6% ; P=0.008) was higher in patients who progressed from PMF than those who progressed from other MPNs. ③ In the multivariate analysis, the complex karyotype (hazard ratio, 2.53; 95% confidence interval, 1.06-6.05; P=0.036) was independently associated with worse overall survival (OS) . Patients who received allogeneic stem cell transplantation (allo-HSCT) (median OS, 21.3 vs. 3 months; P=0.05) or acute myeloid leukemia-like (AML-like) therapy (median OS, 13 vs. 3 months; P=0.011) had significantly better OS than those who received supportive therapy. Conclusion: The proportions of patients with PMF-AP/BP with splenomegaly, myelofibrosis grade ≥2, a higher LDH level, and a shorter duration from diagnosis to the transformation to AP/BP were higher than those of patients with other Philadelphia-negative MPN-AP/BP. The complex karyotype was an independent prognostic factor for OS. Compared with supportive therapy, AML-like therapy and allo-HSCT could prolong the OS of patients with MPN-AP/BP.


Assuntos
Leucemia Mieloide Aguda , Transtornos Mieloproliferativos , Mielofibrose Primária , Masculino , Feminino , Humanos , Adulto , Pessoa de Meia-Idade , Idoso , Crise Blástica/tratamento farmacológico , Mielofibrose Primária/genética , Prognóstico , Esplenomegalia , Estudos Retrospectivos , Transtornos Mieloproliferativos/diagnóstico , Transtornos Mieloproliferativos/genética , Mutação , Janus Quinase 2/genética
14.
Zhonghua Xue Ye Xue Za Zhi ; 43(11): 928-933, 2022 Nov 14.
Artigo em Zh | MEDLINE | ID: mdl-36709184

RESUMO

Objective: Diagnostic value assessment of sternal bone marrow cell morphology in patients with acquired hypocellular bone marrow failure syndromes (BMFS) characterized by normal cytogenetics. Methods: A total of 194 eligible patients with an acquired hypocellular BMFS pre-sternum diagnosis in Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Science & Peking Union Medical College from June 2014 to January 2019 were reviewed. Sternal bone marrow evaluation was performed, and a post-sternum diagnosis was made. Clinical characteristics and overall survival (OS) were then compared among patients with different post-sternum diagnosis. Binary logistic regression was used to develop a predictive scoring system. Results: In 152 patients with pre-sternum AA diagnosis, 29 patients with a pre-sternum idiopathic cytopenia of undetermined significance (ICUS) diagnosis, and 13 patients with a pre-sternum clonal cytopenia of undetermined significance (CCUS) diagnosis, sternal bone marrow evaluation resulted in a change of diagnosis to hypocellular myelodysplastic syndrome (hypo-MDS) in 42.8% (65/152) , 24.1% (7/29) , and 30.8% (4/13) , respectively. Patients with a post-sternum hypo-MDS diagnosis showed a significant difference in OS compared with patients with a post-sternum AA diagnosis (P=0.005) . Patients with ICUS/CCUS showed no difference in OS compared with AA and hypo-MDS (P=0.095 and P=0.480, respectively) . A 4-item predictive scoring system to identify hypocellular BMFS patients that need sternal bone marrow evaluation was developed, including age > 60 years old (OR=6.647, 95% CI 1.954-22.611, P=0.002, 2 points) , neutrophil alkaline phosphatase score ≤ 160 (OR=2.654, 95% CI 1.214-5.804, P=0.014, 1 point) , abnormal erythroid markers evaluated by flow cytometry on iliac bone marrow (OR=6.200, 95% CI 1.165-32.988, P=0.032, 2 points) , and DAT (DNMT3A, ASXL1, TET2) genes mutation (OR=4.809, 95% CI 1.587-14.572, P=0.005, 1 point) . The Akaike information criterin (AIC) was 186.1. Conclusion: Patients with a pre-sternum acquired hypocellular BMFS diagnosis characterized by normal cytogenetics may not reach accurate diagnostic categorization without sternal bone marrow cell morphology evaluation, which could be considered a diagnostic tool for this patient population. A predictive scoring system was developed, and when the total score is ≥ 2 points, sternal bone marrow evaluation should be performed for accurate diagnostic categorization that is critical to optimal patient care.


Assuntos
Síndromes Mielodisplásicas , Pancitopenia , Humanos , Pessoa de Meia-Idade , Medula Óssea , Síndromes Mielodisplásicas/diagnóstico , Síndromes Mielodisplásicas/genética , Transtornos da Insuficiência da Medula Óssea/diagnóstico , Células da Medula Óssea , Esterno
15.
Int J Oral Maxillofac Surg ; 51(10): 1289-1295, 2022 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-35606319

RESUMO

The purpose of this study was to compare the effects of the radial forearm free flap (RFFF) and groin soft tissue free flap (GSFF) on the quality of life (QoL) of patients undergoing reconstructive surgery after resection for oral cancer. A retrospective analysis of 48 patients was performed. The Vancouver Scar Scale (VSS), University of Washington Quality of Life (UW-QOL) questionnaire, and 14-item Oral Health Impact Profile (OHIP-14) questionnaire were used to evaluate the donor site scars and QoL of the patients. The postoperative hospital stay was significantly longer in the RFFF group than in the GSFF group (P = 0.001). Furthermore, the total VSS score (P = 0.011), VSS score for pigmentation (P < 0.001), and OHIP-14 scores for psychological discomfort (P = 0.026) and social disability (P = 0.044) were all significantly higher in the RFFF group than in the GSFF group, while the UW-QOL scores for appearance (P = 0.037) and mood (P = 0.036) were significantly lower in the RFFF group than in the GSFF group. Compared with the RFFF, the GSFF scar is more concealed, with better aesthetics at the donor site, and this flap can result in improved postoperative QoL for patients with oral cancer.


Assuntos
Retalhos de Tecido Biológico , Neoplasias Bucais , Procedimentos de Cirurgia Plástica , Cicatriz/cirurgia , Estética Dentária , Virilha/cirurgia , Humanos , Neoplasias Bucais/cirurgia , Qualidade de Vida , Estudos Retrospectivos
16.
Zhonghua Xue Ye Xue Za Zhi ; 43(10): 818-825, 2022 Oct 14.
Artigo em Zh | MEDLINE | ID: mdl-36709195

RESUMO

Objective: To explore the risk factors in leukemia transformation (LT) in those with myelodysplastic syndromes (MDS) . Methods: From January 2012 to December 2020,data on 320 patients with newly diagnosed primary MDS were gathered from the MDS center. The clinical features and molecular characteristics are explored. Additionally, a retrospective analysis of risk factors for the development of acute leukemia from MDS was done. Results: The median follow-up was13.6 (0.4-107.3) months. 23.4% (75/320) of the MDS patients had LT group. Significant differences between the LT group and non-LT group can be seen in age (P<0.001) , bone marrow blast percentage (P<0.001) , bone marrow fibrosis (P=0.046) , WHO classification (P<0.001) , IPSS-R (P<0.001) and IPSS-R karyotype group (P=0.001) . The median number of mutation of LT group was 1 (1, 3) , that in non-LT group was 1 (0, 2) ,which had a statistical difference (P=0.003) .At the time of the initial diagnosis of MDS, the LT group had higher rates of the TP53 mutation (P=0.034) , DNMT3A mutation (P=0.026) , NRAS mutation (P=0.027) and NPM1 mutation (P=0.017) . Compared with the mutations at first diagnosis and LT of six patients, the number of mutations increased and the variant allele frequencies (VAF) increased significantly in LT patients. Higher bone marrow blast percentage (Refer to <5% , 5% -10% : HR=4.587, 95% CI 2.214 to 9.504, P<0.001, >10% : HR=9.352, 95% CI 4.049 to 21.600, P<0.001) , IPSS-R cytogenetic risk groups (HR=2.603, 95% CI 1.229-5.511, P=0.012) , DNMT3A mutation (HR=4.507, 95% CI 1.889-10.753, P=0.001) , and NPM1 mutation (HR=3.341, 95% CI 1.164-9.591, P=0.025) were all independently associated with LT in MDS patients, according to results of multivariate Cox regression. Conclusion: Bone marrow blast percentage, IPSS-R cytogenetic risk groups, DNMT3A mutation, and NPM1 mutation are independent risk factors in LT for MDS patients.


Assuntos
Leucemia Mieloide Aguda , Síndromes Mielodisplásicas , Humanos , Estudos Retrospectivos , Prognóstico , Síndromes Mielodisplásicas/genética , Síndromes Mielodisplásicas/diagnóstico , Mutação , Proteínas Nucleares/genética , Fatores de Risco
17.
Zhonghua Xue Ye Xue Za Zhi ; 43(2): 107-114, 2022 Feb 14.
Artigo em Zh | MEDLINE | ID: mdl-35381670

RESUMO

Objective: To compare clinical and laboratory features between JAK2 exon12 and JAK2 V617F mutated polycythemia vera (PV) . Method: We collected data from 570 consecutive newly-diagnosed subjects with PV and JAK2 mutation, and compared clinical and laboratory features between patients with JAK2 exon12 and JAK2 V617F mutation. Results: 543 (95.3%) subjects harboured JAK2 V617F mutation (JAK2 V617F cohort) , 24 (4.2%) harboured JAK2 exon12 mutations (JAK2 exon12 cohort) , and 3 (0.5%) harboured JAK2 exon12 and JAK2 V617F mutations. The mutations in JAK2 exon12 including deletion (n=10, 37.0%) , deletion accompanied insertion (n=10, 37.0%) , and missense mutations (n=7, 25.9%) . Comparing with JAK2 V617F cohort, subjects in JAK2 exon12 cohort were younger [median age 50 (20-73) years versus 59 (25-91) years, P=0.040], had higher RBC counts [8.19 (5.88-10.94) ×10(12)/L versus 7.14 (4.11-10.64) ×10(12)/L, P<0.001] and hematocrit [64.1% (53.7-79.0%) versus 59.6% (47.2%-77.1%) , P=0.001], but lower WBC counts [8.29 (3.2-18.99) ×10(9)/L versus 12.91 (3.24-38.3) ×10(9)/L, P<0.001], platelet counts [313 (83-1433) ×10(9)/L versus 470 (61-2169) ×10(9)/L, P<0.001] and epoetin [0.70 (0.06-3.27) versus 1.14 (0.01-10.16) IU/L, P=0.002] levels. We reviewed bone marrow histology at diagnosis in 20 subjects with each type of mutation matched for age and sex. Subjects with JAK2 exon12 mutations had fewer loose megakaryocyte cluster (40% versus 80%, P=0.022) compared with subjects with JAK2 V617F. The median follow-ups were 30 months (range 4-83) and 37 months (range 1-84) for cohorts with JAK2 V617F and JAK2 exon12, respectively. There was no difference in overall survival (P=0.422) and thrombosis-free survival (P=0.900) . Conclusions: Compared with patients with JAK2 V617F mutation, patients with JAK2 exon12 mutation were younger, and had more obvious erythrocytosis and less loose cluster of megakaryocytes.


Assuntos
Janus Quinase 2 , Policitemia Vera , Adulto , Idoso , Idoso de 80 Anos ou mais , Medula Óssea/patologia , Éxons , Humanos , Janus Quinase 2/genética , Pessoa de Meia-Idade , Mutação , Mutação de Sentido Incorreto , Policitemia Vera/genética , Adulto Jovem
18.
Phys Rev Lett ; 107(1): 013601, 2011 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-21797542

RESUMO

Squeezed spin states possess unique quantum correlation or entanglement and are significantly promising for advancing quantum information processing and quantum metrology. In recent back-to-back publications [C. Gross et al., Nature (London) 464, 1165 (2010) and Max F. Riedel et al., Nature (London) 464, 1170 (2010)], reduced spin fluctuations are observed leading to spin squeezing at -8.2 and -2.5 dB, respectively, in two-component atomic condensates exhibiting one-axis-twisting interactions. The noise reduction limit for the one-axis twisting scales as ∝1/N(2/3), which for a condensate with N∼10(3) atoms is about 100 times below the standard quantum limit. We present a scheme using repeated Rabi pulses capable of transforming the one-axis-twisting spin squeezing into the two-axis-twisting type, leading to Heisenberg limited noise reduction ∝1/N or an extra tenfold improvement for N∼10(3).

19.
J Phys Chem A ; 115(15): 3509-22, 2011 Apr 21.
Artigo em Inglês | MEDLINE | ID: mdl-21446658

RESUMO

The potential energy surfaces of H-atom reactions with CH(3)CH(2)O and CH(3)CHOH, two major radicals in the decomposition and oxidation of ethanol, have been studied at the CCSD(T)/6-311+G(3df,2p) level of theory with geometric optimization carried out at the BH&HLYP/6-311+G(3df,2p) level. The direct hydrogen abstraction channels and the indirect association/decomposition channels from the chemically activated ethanol molecule have been considered for both reactions. The rate constants for both reactions have been calculated at 100-3000 K and 10(-4) Torr to 10(3) atm Ar pressure by microcanonical VTST/RRKM theory with master equation solution for all accessible product channels. The results show that the major product channel of the CH(3)CH(2)O + H reaction is CH(3) + CH(2)OH under atmospheric pressure conditions. Only at high pressure and low temperature, the rate constant for CH(3)CH(2)OH formation by collisonal deactivation becomes dominant. For CH(3)CHOH + H, there are three major product channels; at high temperatures, CH(3)+CH(2)OH production predominates at low pressures (P < 100 Torr), while the formation of CH(3)CH(2)OH by collisional deactivation becomes competitive at high pressures and low temperatures (T < 500 K). At high temperatures, the direct hydrogen abstraction reaction producing CH(2)CHOH + H(2) becomes dominant. Rate constants for all accessible product channels in both systems have been predicted and tabulated for modeling applications. The predicted value for CH(3)CHOH + H at 295 K and 1 Torr pressure agrees closely with available experimental data. For practical modeling applications, the rate constants for the thermal unimolecular decomposition of ethanol giving key accessible products have been predicted; those for the two major product channels taking place by dehydration and C-C breaking agree closely with available literature data.


Assuntos
Etanol/química , Temperatura , Radicais Livres/química , Cinética , Teoria Quântica
20.
Zhonghua Xue Ye Xue Za Zhi ; 42(5): 376-382, 2021 May 14.
Artigo em Zh | MEDLINE | ID: mdl-34218579

RESUMO

Objective: To explore the outcome of cyclosporine A (CsA) combined with danazol with or without thalidomide regimen for myelodysplastic syndrome (MDS) with low-percentage bone marrow blasts and predictive factors for treatment response. Methods: Data of 115 subjects who were newly diagnosed with primary MDS with low-percentage bone marrow blasts and were treated with CsA combined with danazol with or without thalidomide from December 2011 to December 2019 in our center were collected. Their clinical features, efficacy, and predictive factors of efficacy were retrospectively analyzed. A model for predicting this response was developed. Results: A total of 55 subjects responded (47.8%) , including 11 complete responses and 44 hematologic improvements. Fifty-two patients (52/105, 49.5%) achieved erythrocyte response; 35 (35/86, 40.7%) , platelet response; and 14 (14/40, 35%) , neutrophil response. Of 29 subjects (24.1%) , 7 who were red blood cell (RBC) transfusion-dependent became independent of transfusion. The median response duration was 20 months (range, 3-84 months) . In the univariate analysis, patients <0 years had a higher response rate than those ≥60 years (52.5% vs 22.2%, P=0.018) . Contrarily, the response rate was substantially decreased in patients with RBC transfusion dependence compared with those without RBC transfusion dependence (24.1% vs 55.8%, P=0.003) , as well as in patients with the mutated U2AF1 compared with those with the wild-type U2AF1 (26.1% vs 53.2%, P=0.020) . In multivariable analyses, age <0 years (OR=4.302, 95% CI 1.245-14.820, P=0.021) , RBC transfusion dependence (OR=3.774, 95% CI 1.400-10.177, P=0.009) , and U2AF1 mutation (OR=3.414, 95% CI 1.168-9.978, P=0.025) were significantly correlated with response. Variables that independently predicted the response were combined to generate the predictive model. According to the model, the overall response rates of patients with 0, 1, 2, and 3 risk factors were 65%, 30%-35%, 10%-15%, and 3%, respectively. Conclusion: CsA combined with danazol with or without thalidomide regimen could improve cytopenia symptoms in patients with MDS with low-percentage bone marrow blasts. At age <60 years, no transfusion dependence of RBC and wild-type U2AF1 mutation is a favorable prognostic factor.


Assuntos
Síndromes Mielodisplásicas , Talidomida , Medula Óssea , Ciclosporina , Danazol , Humanos , Recém-Nascido , Pessoa de Meia-Idade , Prognóstico , Estudos Retrospectivos , Resultado do Tratamento
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