【摘要】 目的 观察慢性粒细胞性白血病（chronic myelogenous leukemia， CML）急变（blast crisis，BC）患者罕见染色体异常的临床及实验室特点。 方法 2010年2月1例患者因咳嗽和高热来我院就诊，采用常规方法检查患者骨髓细胞，应用R显带技术和荧光原位杂交技术分析骨髓细胞核型。 结果 患者具有CML-BC的典型临床及实验室特点，同时核型出现不典型t（1；9；22）合并亚二倍体罕见核型异常，临床表现病情进展快，对伊马替尼疗效差，生存期短。 结论 慢性粒细胞性白血病患者在急变期出现伴不典型Ph染色体的亚二倍体复杂核型为高危核型，此类患者可能存在对伊马替尼的耐药，如能取得血液学缓解应尽早接受异基因骨髓造血干细胞移植，争取获得长期疗效。【Abstract】 Objective To report a case of chronic myelogenous leukemia (CML) blastic transformation into acute myelogenous leukemia with rare atypical hypodiploid t(1;9;22) complex chromosome abnormalities, and to analyze its clinical and laboratory characteristics. Methods A 47-year-old man was referred to our hospital due to cough and high fever in February 2010. We collected and analyzed the patient’s clinical materials, and performed chromosomal karyotype analysis with R-banding and fluorescence in situ hybridization (FISH). Results The patient demonstrated typical clinical and laboratory characteristics of blastic crisis of chronic myelogenous leukemia (CML-BC) and displayed rare atypical hypodiploid t(1;9;22) complex chromosome abnormalities. Meanwhile, the disease was rapidly progressive, with poor response to imatinib and had short overall survival. Conclusions CML-BC patients with hypodiploidy complex chromosome abnormalities are in high risk. They may show drug-resistance to imatinib. Thus, for this type of patients, once the hematological remission is achieved, allogeneic stem cell transplant should be performed as soon as possible to get better opportunity for long-term survival.
Human motion control system has a high degree of nonlinear characteristics. Through quantitative evaluation of the nonlinear coupling strength between surface electromyogram (sEMG) signals, we can get the functional state of the muscles related to the movement, and then explore the mechanism of human motion control. In this paper, wavelet packet decomposition and n:m coherence analysis are combined to construct an intermuscular cross-frequency coupling analysis model based on wavelet packet-n:m coherence. In the elbow flexion and extension state with 30% maximum voluntary contraction force (MVC), sEMG signals of 20 healthy adults were collected. Firstly, the subband components were obtained based on wavelet packet decomposition, and then the n:m coherence of subband signals was calculated to analyze the coupling characteristics between muscles. The results show that the linear coupling strength (frequency ratio 1:1) of the cooperative and antagonistic pairs is higher than that of the nonlinear coupling (frequency ratio 1:2, 2:1 and 1:3, 3:1) under the elbow flexion motion of 30% MVC; the coupling strength decreases with the increase of frequency ratio for the intermuscular nonlinear coupling, and there is no significant difference between the frequency ratio n:m and m:n. The intermuscular coupling in beta and gamma bands is mainly reflected in the linear coupling (1:1), nonlinear coupling of low frequency ratio (1:2, 2:1) between synergetic pair and the linear coupling between antagonistic pairs. The results show that the wavelet packet-n:m coherence method can qualitatively describe the nonlinear coupling strength between muscles, which provides a theoretical reference for further revealing the mechanism of human motion control and the rehabilitation evaluation of patients with motor dysfunction.
ObjectiveTo investigate the timing and clinical efficacy of diaphragmatic plication in the treatment of diaphragmatic paralysis after congenital heart disease (CHD) operation.MethodsFrom January 2013 to February 2019, 30 children with CHD who were treated in Fuwai Hospital were collected, including 17 males and 13 females with a median age of 19.5 (3, 72) months. There were 6 patients with bilateral diaphragmatic paralysis (bilateral group) and 24 patients with unilateral diaphragmatic paralysis (unilateral group). The clinical data of the two groups were compared.ResultsAmong the 6 bilateral diaphragmatic paralysis patients, 2 underwent bilateral diaphragmatic plication, and the other 4 patients continued their off-line exercise after unilateral diaphragmatic plication. Patients in the unilateral group had shorter ventilator use time (266.77±338.34 h vs. 995.33±622.29 h, P=0.001) and total ICU stay time (33.21±23.97 d vs. 67.33±28.54 d, P=0.008) than those in the bilateral group. One patient died in the bilateral group, and there was no statistical difference between the two groups (P=0.363). There was no statistical difference in the ICU stay time after diaphragm plication between the two groups (11.68±10.28 d vs. 29.83±27.73 d, P>0.05).ConclusionDiaphragmatic plication is an effective treatment for diaphragmatic paralysis after CHD operation once the conservative treatment failed. The prognosis of bilateral diaphragmatic paralysis is worse than that of unilateral diaphragmatic paralysis. Strict control of indications for surgery is beneficial to the early recovery of patients.
ObjectiveTo detect the expression of Liver X receptors (LXRs), protein phosphatase 1A (PPM1A), transforming growth factor-β1 (TGF-β1) and Smad2 in peripheral blood of bronchial asthma patients, and to explore whether LXRs and PPM1A are related to airway remodeling.MethodsSubjects were divided into healthy control group, mild and moderate asthma group and severe asthma group, with 30 subjects each. Lung function and high-resolution computed tomography examination were performed on patients with bronchial asthma to define airway remodeling. Peripheral blood was extracted and the serum levels of LXRα, LXRβ, PPM1A, TGF-β1 and Smad2 were detected after centrifugation. Then the data were analyzed.ResultsThe airway remodeling level of the mild and moderate asthma group was significantly higher than that of the control group. The airway remodeling level of the severe asthma group was significantly higher than that of the mild and moderate asthma group. Serum LXRα, LXRβ in asthma group were higher than those in the control group. The levels of LXRα and LXRβ in severe asthma were higher than those in mild and moderate asthma group. There was no significant correlation between LXRs and airway remodeling. The PPM1A level in mild and moderate asthma group was lower than that in the control group. The levels of PPM1A in severe asthma were lower than that in mild and moderate asthma group. PPM1A level was negatively correlated with airway remodeling.ConclusionsThe level of PPM1A in asthma patients is lower than that in healthy subjects, and is negatively correlated with the degree of airway remodeling. Serum LXRs in asthmatic patients are higher than that in healthy subjects, but LXRs are not significantly correlated with airway remodeling.
Objective To recognize the risk factors of unplanned re-interventions within 30 days after pediatric cardiac surgery and evaluate the outcome of re-interventions. Methods We retrospectively analyzed the clinical data of 202 children in Fuwai Hospital between January 1, 2015 and August 31, 2017. There were 115 males and 87 females at average age of 32.4 months with range of 3 days to 14 years. Results There were 202 children who underwent unplanned re-intervention during 30 days post-operation, including 54 re-adjustments of pulmonary blood flow, 34 re-corrections for residual cardiac abnormalities, 28 cardiopulmonary resuscitations, 38 for coagulation problems, 19 pericardial drainages, 11 palliative re-operations to deliver heart load and 6 diaphragmatic folds and 12 others. The mortality rate among children who underwent unplanned re-inventions after cardiac surgery was 10.9% (22/202). It was much higher than those free from re-interventions (0.7%). Time of mechanical ventilation was 284.3 (11–2 339) h, and mean ICU stay was 17.7 (1–154) d, significantly longer than those free from re-interventions at the same period. Conclusion Unplanned re-interventions after pediatric cardiac surgery is associated with higher mortality rate and longer recovery time. Early identifying risk factors and re-intervention can reduce the complications and improve the prognosis.