2020年 · 第133卷第16期

出版日期 2020-08-20电子版￥0.00元

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Original Article

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心房颤动机械瓣膜置换术患者的外科左心耳封堵

Zheng Ye, Rao Chen-Fei, Chen Si-Peng, He Li, Hou Jian-Feng, Zheng Zhe

中华医学杂志英文版2020年 133卷 16期

DOI: 10.1097/CM9.0000000000000967

摘要

Background: Surgical left atrial appendage occlusion (SLAAO) may be associated with a lower risk of thromboembolism in patients with atrial fibrillation undergoing cardiac surgery. However, evidence regarding the effectiveness of SLAAO in patients undergoing mechanical heart valve replacement (MHVR) is lacking. Therefore, we aimed to evaluate the association between SLAAO and the cardiovascular outcomes in patients with atrial fibrillation undergoing MHVR. Methods: We retrospectively analyzed data for 497 patients with atrial fibrillation; 27.6% of the patients underwent SLAAO, and the remainder of the patients did not (No-SLAAO group). The primary outcome was a composite of ischemic stroke, systemic embolism, and all-cause mortality. Cumulative event-free survival rates were estimated using Kaplan-Meier curves, and we performed multivariate Cox analyses to evaluate the association between SLAAO and outcomes. We used one-to-one propensity score matching to balance patients’ baseline characteristics, and analyzed 120 matching pairs. Results: Five patients died within 30 days postoperatively, and there were no significant differences between the two groups regarding in-hospital complications (all P > 0.05). After a median follow-up of 14 months, 14 primary events occurred. Kaplan-Meier curves showed no difference in the cumulative incidence of freedom from the primary outcome (log-rank P = 0.830), hemorrhagic events (log-rank P = 0.870), and the secondary outcome (log-rank P = 0.730), between the two groups. Multivariable Cox proportional hazards regression analysis showed no association between SLAAO and any outcome (all P > 0.05). After propensity score matching, cardiopulmonary bypass time and aortic cross-clamp time, and the postoperative length of stay were significantly longer in the SLAAO group (all P < 0.05); results were similar to the unadjusted analyses. Conclusions: Concomitant SLAAO and MHVR was associated with longer length of stay, and cardiopulmonary bypass time and aortic cross-clamp time, but was not associated with additional protective effects against thromboembolic events and mortality during the 14-month follow-up.

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儿童白细胞总数和分类计数的年龄依赖性变化

Li Kun, Peng Ya-Guang, Yan Ruo-Hua, Song Wen-Qi, Peng Xiao-Xia, Ni Xin

中华医学杂志英文版2020年 133卷 16期

DOI: 10.1097/CM9.0000000000000854

摘要

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局部麻醉对非手术牙周治疗结果的影响

Shi Shu-Wen, Jiao Jian, Zhang Li, Lu Rui-Fang, Meng Huan-Xin, Cao Zhan-Qiang, Shi Dong, Song Yi

中华医学杂志英文版2020年 133卷 16期

DOI: 10.1097/CM9.0000000000000903

摘要

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肺气肿为主的慢性阻塞性肺疾病小气道免疫球蛋白A谱

Liu Hu, Tang Huo-Yan, Xu Jian-Ying, Pang Zhi-Gang

中华医学杂志英文版2020年 133卷 16期

DOI: 10.1097/CM9.0000000000000863

摘要

Background: Due to airway remodeling and emphysematous destruction in the lung, the two classical clinical phenotypes of chronic obstructive pulmonary disease (COPD) are emphysema and bronchiolitis. The present study was designed to investigate the levels of small airway immunoglobulin A (IgA) in COPD with "emphysema phenotype." The study also evaluated the associations between the small airway IgA levels and the severity of disease by the extent of emphysema versus airflow limitation. Methods: Thirty patients (20 with COPD and ten healthy smokers) undergoing lung resection surgery for a solitary peripheral nodule were included. The study was conducted from January 2015 to December 2018 in the Shanxi Dayi Hospital. The presence of small airway IgA expression was determined in the lung by immunohistochemistry. In vivo, Wistar rats were exposed to silica by intratracheal instillation. Rats were sacrificed at 15 and 30 days after exposure of silica (n = 10 for each group). We also evaluated airway IgA from rats. Results: Small airway secretory IgA (sIgA), dimeric IgA (dIgA), and dIgA/sIgA of Global Initiative for Chronic Obstructive Lung Disease grade 1-2 COPD patients showed no difference compared with smoking control subjects (5.15±1.53 vs. 6.03±0.85; 1.94±0.66 vs. 1.67±0.04; 41.69±21.02 vs. 28.44±9.45, all P > 0.05). dIgA/sIgA level in the lung of COPD patients with emphysema showed higher levels than that of COPD patients without emphysema (51.89±24.81 vs. 31.49±9.28, P=0.03). The percentage of low-attenuation area below 950 Hounsfield units was positively correlated with dIgA/sIgA levels (r=0.45, P=0.047), but not associated with the severity of disease by spirometric measurements (forced expiratory volume in the first second %pred, P>0.05). Likewise, in the rat study, significant differences in sIgA, dIgA, dIgA/sIgA, mean linear intercept, mean alveoli number, and mean airway thickness of bronchioles (VV airway, all P < 0.01) were only observed between control rats and those exposed for 30 days. However, in the group exposed for 15 days, although the VV airway was higher than that in normal rats (27.61±2.26 vs. 20.39±1.99, P<0.01), there were no significant differences in IgA and emphysema parameters between the two groups (all P>0.05). Conclusion: Airway IgA concentrations in mild and moderate COPD patients are directly associated with the severity of COPD with "emphysema phenotype" preceding severe airway limitation. This finding suggests that small airway IgA might play an important role in the pathophysiology of COPD, especially emphysema phenotype.

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MicroRNA-145通过靶向神经母细胞瘤RAS病毒癌基因同源物和血管内皮生长因子抑制葡萄膜黑色素瘤血管生成和生长

Yang Jing-Yan, Li Yang, Wang Qian, Zhou Wen-Jia, Yan Yan-Ni, Wei Wen-Bin

中华医学杂志英文版2020年 133卷 16期

DOI: 10.1097/CM9.0000000000000875

摘要

Background: Uveal melanoma (UM) is the most common primary intraocular malignancy in adults. It has been demonstrated that microRNA-145 (miR-145) is correlated with the progression of various cancers by regulating the expression of multiple target genes, especially a number of genes that regulate angiogenesis and proliferation. However, the underlying mechanisms of miR-145 in tumor angiogenesis of UM are still not well illustrated. Thus, we aimed to explore the potential target genes or pathways regulated by miR-145 in UM and the effect of miR-145 on invasion and angiogenesis. Methods: Totally, 24 choroid samples were collected in our study, including 12 UM samples and 12 normal uveal tissues. The expression of neuroblastoma RAS viral oncogene homolog (N-RAS), phosphorylated protein kinase B (p-AKT), and vascular endothelial growth factor (VEGF) in UM tissues and normal uveal tissues was analyzed using Western blotting analysis. Lentivirus expression system was used to construct MUM-2B and OCM-1 cell lines with stable overexpression of miR-145. Transwell and endothelial cell tube formation assay were used to measure the effects of miR-145 on the invasion and angiogenesis of UM in vitro. The downstream target genes of miR-145 were predicted by bioinformatics and confirmed using a luciferase assay. BALB/c nude mice models were established to investigate the mechanisms of miR-145 on tumor growth and angiogenesis in vivo. Group data comparisons were performed using analysis of Student’s t test. A two-tailed P < 0.05 was considered as statistically significant. Results: The results of Western blotting analysis indicated that the expressions of N-RAS (1.10 ± 0.35 vs. 0.41 ± 0.36, t = 3.997, P = 0.012), p-AKT (1.16 ± 0.22 vs. 0.57 ± 0.03, t = 7.05, P = 0.001), and VEGF (0.97 ± 0.32 vs. 0.45 ± 0.21, t = 3.314, P = 0.008) in UM tumor tissues were significantly higher than those in normal uveal tissue. Luciferase assay demonstrated N-RAS and VEGF as downstream targets of miR-145. Moreover, tube formation assay revealed that miR-145-transfected human microvascular endothelial cell line formed shorter tube length (36.10 ± 1.51 mm vs. 42.91 ± 0.94 mm, t = 6.603, P = 0.003) and less branch points (350.00 ± 19.97 vs. 406.67 ± 17.62, t = 3.685, P = 0.021) as compared with controls. In addition, the numbers of invaded MUM-2B and OCM-1 cells with miR-145 overexpression were significantly lower than the controls (35.7 ± 3.3 vs. 279.1 ± 4.9, t = 273.75, P < 0.001 and 69.5 ± 4.4 vs. 95.6 ± 4.7, t = 21.27, P < 0.001, respectively). In vivo, xenografts expressing miR-145 had smaller sizes (miR-145 vs. miR-scr, 717.41 ± 502.62 mm3vs. 1694.80 ± 904.33 mm3, t = 2.314, P = 0.045) and lower weights (miR-145 vs. miR-scr, 0.74 ± 0.46 g vs. 1.65 ± 0.85 g, t = 2.295, P = 0.045). Conclusion: Our results indicated that miR-145 is an important tumor suppressor and the inhibitory strategies against N-RAS/VEGF signaling pathway might be potential therapeutic applications for UM in the future.

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葡萄胎肺部驱逐：中国12年的单一三级中心经验

Dai Yu-Xin, Xiang Yang, Feng Feng-Zhi, Ren Tong, Yang Jun-Jun, Zhao Jun, Wan Xi-Run

中华医学杂志英文版2020年 133卷 16期

DOI: 10.1097/CM9.0000000000000950

摘要

Background: Pulmonary deportation of hydatidiform mole is an exceedingly rare entity. The underlying mechanisms and proper management strategies remain unclear based on sporadic case reports over the past six decades. This study aimed to investigate the clinical features and rational treatment of patients with benign molar pregnancies with pulmonary deportation based on our experience. Methods: Medical records of 20 cases of hydatidiform mole with pulmonary deportation were retrospectively reviewed at Peking Union Medical College Hospital from November 2006 to May 2019. The detailed information of all patients was recorded and analyzed. Patients were divided into different groups according to their characteristics and Mann-Whitney U test was used to compare the duration to achieve a normal β-human chorionic gonadotrophin (β-hCG) level after the first evacuation among groups. Results: Initial pulmonary computed tomography scans showed suspected bilateral, left and right chest deportation of hydatidiform mole in 12, four, and four patients, respectively, with the maximum nodular diameter ranging from 0.6 to 1.2 cm. Ten patients achieved lesion resolution while the remaining ten patients achieved decreases in the size of their pulmonary lesions. The median duration to achieve a normal β-hCG level after the first evacuation was 15.5 (13.0, 21.9) weeks. There was no significant difference in the duration to achieve a normal β-hCG level after the first evacuation between two groups based on age (≥40 years vs. < 40 years: 15.8 [12.2, 21.5] weeks vs. 15.5 [12.9, 23.0] weeks, Z = 0.094, P = 0.925), type of antecedent mole (partial mole vs. complete mole: 15.2 [12.5, 27.4] weeks vs. 15.9 [12.9, 21.5] weeks, Z = 0.165, P = 0.869), distribution of pulmonary nodules (bilateral lungs vs. unilateral lung: 15.2 [12.8, 22.5] weeks vs. 15.9 [13.2, 22.2] weeks, Z = 0.386, P = 0.700), maximum size of pulmonary nodules (>0.5 cm vs. ≤0.5 cm: 13.0 [11.3, 17.2] weeks vs. 16.0 [14.5, 23.8] weeks, Z = 1.815, P = 0.070), and number of uterine evacuations (once vs. twice or three times: 15.0 [13.0, 16.3] weeks vs. 16.0 [12.8, 23.9] weeks, Z = 0.832, P = 0.405). The post-molar cohort was followed up for 17 to 139 months, and no gestational trophoblastic neoplasia was observed. Conclusions: No surgeries other than uterine evacuation and no chemotherapy regimens are recommended for such patients if they achieve satisfactory decreases in the level of hCG and gradual decrease or disappearance of pulmonary deportation nodules. Patients should be informed about the necessity of long-term follow-up. More collaborative international studies on this exceedingly rare condition may guide decisions regarding optimal management strategies.

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炎症介导酪蛋白激酶2-相互作用蛋白-1对间充质干细胞成骨的年龄依赖性影响

Tian Xiao-Guang, Gong Fei-Fei, Li Xi, Meng Fan-Hao, Zhou Zheng, Zhang Hai-Zhong

中华医学杂志英文版2020年 133卷 16期

DOI: 10.1097/CM9.0000000000000951

摘要

Background: The casein kinase 2-interacting protein-1 (CKIP-1) is important in the development of osteoblasts and cardiomyocytes. However, the effects of CKIP-1 on osteoblast precursor mesenchymal stem cells (MSCs) remain unclear. This study aimed to determine whether CKIP-1 affects osteogenic differentiation in MSCs and explore the relationship of CKIP-1 and inflammation. Methods: Bone marrow MSCs of CKIP-1 wild type (WT) and knockout (KO) mice were cultivated in vitro. Cell phenotype was analyzed by flow cytometry, colony formation was detected to study the proliferative ability. Osteogenic and adipogenic induction were performed. The osteogenic ability was explored by alizarin red staining, alkaline phosphatase (ALP) staining and ALP activity detection. Quantitative real-time polymerase chain reaction (qRT-PCR) was carried out to determine the mRNA expression levels of osteoblast marker genes. The adipogenic ability was detected by oil red O staining. Content of the bone was analyzed to observe the differences of bone imaging parameters including trabecular bone volume/tissue volume (BV/TV), bone surface area fraction/trabecular BV, trabecular number (Tb.N), and trabecular spacing (Tb.sp). Interleukin (IL)-1β was injected on WT mice of 2 months old and 18 months old, respectively. Difference in CKIP-1 expression was detected by RT-PCR and western blot. The relationship between CKIP-1 and inflammation was explored by RT-PCR and western blot. Results: ALP assays, alizarin red staining, and qRT-PCR showed that MSCs derived from CKIP-1 KO mice exhibited a stronger capability for osteogenesis. Micro-computed tomography detection showed that among 18-month-old mice, CKIP-1 KO mice presented significantly higher bone mass compared with WT mice (P = 0.02). No significant difference was observed in 2-month-old mice. In vivo data showed that expression of CKIP-1 was higher in the bone marrow of aging mice than in young mice (4.3-fold increase at the mRNA level, P = 0.04). Finally, the expression levels of CKIP-1 in bone marrow (3.2-fold increase at the mRNA level, P = 0.03) and cultured MSCs were up-regulated on chronic inflammatory stimulation by IL-1β. Conclusions: CKIP-1 is responsible for negative regulation of MSC osteogenesis with age-dependent effects. Increasing levels of inflammation with aging may be the primary factor responsible for higher expression levels of CKIP-1 but may not necessarily affect MSC aging.

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大肿瘤抑制因子1或大肿瘤抑制因子2的单拷贝足以正常造血

Li Zhi-Gang, Fu Xue-Mei, Chai Cheng-Yan, Sun Fang-Fang, Xiao Fei-Fei, Huang Yong-Xiu, Yao Kai, Chen Jie-Ping, Hou Yu

中华医学杂志英文版2020年 133卷 16期

DOI: 10.1097/CM9.0000000000000934

摘要

Background: Hematopoietic stem cells (HSCs) have the ability to differentiate into all subsets of blood cells and self-renew. Large tumor suppressor 1 (LATS1) and large tumor suppressor 2 (LATS2) kinases are essential for cell cycle regulation, organism fitness, genome integrity, and cancer prevention. Here, we investigated whether Lats1 and Lats2 are critical for the maintenance of the self-renewal and quiescence capacities of HSCs in mice. Methods: Quantitative reverse transcription-polymerase chain reaction was used to determine the expression levels of Lats1 and Lats2 in subsets of progenitor cells and mature bone marrow cells. A clustered regularly interspaced short palindromic repeats system was used to generate Lats1 or Lats2 knockout mice. Complete blood cell counts were used to compare the absolute number of white blood cells, lymphocytes, monocytes, neutrophils, and platelets between Lats1 or Lats2 heterozygotes and littermates. Flow cytometry was used to assess the size of hematopoietic progenitor cells (HPCs) and HSC pools in Lats1 or Lats2 heterozygotes and littermates. The comparison between the two groups was analyzed using Student’s t test. Results: Lats1 and Lats2 were widely expressed in hematopoietic cells with higher expression levels in primitive hematopoietic cells than in mature cells. Lats1 or Lats2 knockout mice were generated, with the homozygotes showing embryonic lethality. The size of the HPC and HSC pools in Lats1 (HPC: wild-type [WT] vs. heterozygote, 220,426.77 ± 54,384.796 vs. 221,149.4 ± 42,688.29, P = 0.988; HSC: WT vs. heterozygote, 2498.932 ± 347.856 vs. 3249.763 ± 370.412, P = 0.105) or Lats2 (HPC: WT vs. heterozygote, 425,540.52 ± 99,721.86 vs. 467,127.8 ± 89,574.48, P = 0.527; HSC: WT vs. heterozygote, 4760.545 ± 1518.01 vs. 5327.437 ± 873.297, P = 0.502) heterozygotes were not impaired. Moreover, the depletion of Lats1 or Lats2 did not affect the overall survival of the heterozygotes (Lats1: P = 0.654; Lats2: P = 0.152). Conclusion: These results indicate that a single allele of Lats1 or Lats2 may be sufficient for normal hematopoiesis.

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大鼠坐骨神经挤压伤后电刺激后卫星细胞增殖和肌纤维截面积增加

Xing Hua-Yi, Liu Nan, Zhou Mou-Wang

中华医学杂志英文版2020年 133卷 16期

DOI: 10.1097/CM9.0000000000000822

摘要

Background: Electrical stimulation has been recommended as an effective therapy to prevent muscle atrophy after nerve injury. However, the effect of electrical stimulation on the proliferation of satellite cells in denervated muscles has not yet been fully elucidated. This study was aimed to evaluate the changes in satellite cell proliferation after electrical stimulation in nerve injury and to determine whether these changes are related to the restoration of myofiber cross-section area (CSA). Methods: Sciatic nerve crush injury was performed in 48 male Sprague-Dawley rats. In half (24/48) of the rats, the gastrocnemius was electrically stimulated transcutaneously on a daily basis after injury, while the other half were not stimulated. Another group of 24 male Sprague-Dawley rats were used as sham operation controls without injury or stimulation. The rats were euthanized 2, 4, and 6 weeks later. After 5-bromo-2’-deoxyuridine (BrdU) labeling, the gastrocnemia were harvested for the detection of paired box protein 7 (Pax7), BrdU, myofiber CSA, and myonuclei number per fiber. All data were analyzed using two-way analysis of variance and Bonferroni post-hoc test. Results: The percentages of Pax7-positive nuclei (10.81 ± 0.56%) and BrdU-positive nuclei (34.29 ± 3.87%) in stimulated muscles were significantly higher compared to those in non-stimulated muscles (2.58 ± 0.33% and 1.30 ± 0.09%, respectively, Bonferroni t = 15.91 and 18.14, P < 0.05). The numbers of myonuclei per fiber (2.19 ± 0.24) and myofiber CSA (1906.86 ± 116.51 μm2) were also increased in the stimulated muscles (Bonferroni t = 3.57 and 2.73, P < 0.05), and both were positively correlated with the Pax7-positive satellite cell content (R2 = 0.52 and 0.60, P < 0.01). There was no significant difference in the ratio of myofiber CSA/myonuclei number per fiber among the three groups. Conclusions: Our results indicate that satellite cell proliferation is promoted by electrical stimulation after nerve injury, which may be correlated with an increase in myonuclei number and myofiber CSA.

Review Article

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早期营养与晚年代谢紊乱：能量代谢的新视角

Zhou Li-Yuan, Deng Ming-Qun, Zhang Qian, Xiao Xin-Hua

中华医学杂志英文版2020年 133卷 16期

DOI: 10.1097/CM9.0000000000000976

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结直肠癌中的类器官：进展与挑战

Ji Deng-Bo, Wu Ai-Wen

中华医学杂志英文版2020年 133卷 16期

DOI: 10.1097/CM9.0000000000000882

摘要

Viewpoint

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武汉市以外三级甲等医院2019冠状病毒病防控情况

Gu Jian-Wen, Wang Hong-Jiang, Shi Quan-Xing, Tao Yang, Du Feng, Li Yun-Ming, Xu Yong-Xing, Jia Li-Ping, Yang He-Ming, Lou Xiao-Tong 等

中华医学杂志英文版2020年 133卷 16期

DOI: 10.1097/CM9.0000000000000912

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磁外科领域的建议和最佳实践

Lyu Yi

中华医学杂志英文版2020年 133卷 16期

DOI: 10.1097/CM9.0000000000000942

摘要

Clinical Observation

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2019年新型冠状病毒病住院患者的临床特征提示潜在的近端肾小管功能障碍

Liu Liu, He Fan, Cai Si-Si, Hu Kai-Li, Yu Chong, Huang Yi, Zeng Rui, Xu Gang

中华医学杂志英文版2020年 133卷 16期

DOI: 10.1097/CM9.0000000000000945

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快速胶体金免疫层析法诊断2019冠状病毒病

Wang Xiao-Ling, Wang Lei, Hasi Chao-Lu, Wang Yu-Po, Khan Ajab, Ren Bin-Zhi, Liu Zhi-Zhen, Hou Shun-Lin, Yang Li-Hong, Zhang Liao-Yun 等

中华医学杂志英文版2020年 133卷 16期

DOI: 10.1097/CM9.0000000000000922

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中国房颤导管消融术后早期非维生素K拮抗剂口服抗凝药物依从性的影响因素

Hu Zhi-Cheng, Liu Shang-Yu, Wu Ling-Min, Shen Li-Shui, Liu Li-Min, Li Guo-Liang, Zheng Li-Hui, Yao Yan

中华医学杂志英文版2020年 133卷 16期

DOI: 10.1097/CM9.0000000000001000

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盆腔器官脱垂定量检查预测宫颈长度的影响因素研究

Tan Man, Tan Cheng, Zhao Yang, Yang Xin

中华医学杂志英文版2020年 133卷 16期

DOI: 10.1097/CM9.0000000000000960

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一起肠炎暴发的调查肠道沙门氏菌中国的阿伯丁血清型

Liu Wen-Juan, Pan Hao-Jie, Song Yan, Li Yan, Wang Yan-Qing, Zou Xiao-Nan, Zhu Dong-Nan, Gong Yue-Hua, Xu Ying-Chun

中华医学杂志英文版2020年 133卷 16期

DOI: 10.1097/CM9.0000000000000938

摘要

Correspondence

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广东省脐血库脐血应用分析

Shi Cong-Ying, Wei Wei, Lyu Li-Juan, Wang Qi

中华医学杂志英文版2020年 133卷 16期

DOI: 10.1097/CM9.0000000000000924

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妊娠期带状疱疹的安全药物治疗和程序1例

Yeong Kim Ji, Ri Ko You, Eun Sim Sung, Oh Sua, Hyeon Lee Mi, Jung Park Hue

中华医学杂志英文版2020年 133卷 16期

DOI: 10.1097/CM9.0000000000000927

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CD19 CAR-T治疗费城染色体阳性B前体急性淋巴细胞白血病复发时谱系转换的报告

Li Lan-Zhu, Sun Qian, Fang Yu, Yang Li-Jia, Xu Zi-Yao, Hu Jin-Hua, Cao Lan, Huang Jia-Yu, Hong Ming, Li Jian-Yong 等

中华医学杂志英文版2020年 133卷 16期

DOI: 10.1097/CM9.0000000000000962

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复发性发热和皮肤结节：伪装成抗中性粒细胞胞浆抗体相关血管炎的麻风病

Yu Sheng-Nan, Wang Jing, Zheng Rui, Liu Yi

中华医学杂志英文版2020年 133卷 16期

DOI: 10.1097/CM9.0000000000000937

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干扰素-α治疗对EB病毒相关性噬血细胞性淋巴组织细胞增多症的长期缓解作用

Huang Jie, Yang Chen-Lu, Niu Ting

中华医学杂志英文版2020年 133卷 16期

DOI: 10.1097/CM9.0000000000000947

摘要

致编辑：一名59岁的中国女性因疲劳和发热1个月入院。3年前，由于间歇性发热和记录的EB病毒血清学阳性，她被诊断为慢性活动性EB病毒（CAEBV）感染。体检时，她的脾脏、肝脏和浅表淋巴结不可触及。没有肺部感染的迹象。初步实验室检查如下：白细胞计数0.92 × 10⁹/L，血红蛋白66 g/L，血小板计数15 × 10⁹/L。血清生化：丙氨酸转氨酶44 U/L，天冬氨酸转氨酶142 U/L，白蛋白26.7 g/L，甘油三酯3.02 mmol/L，乳酸脱氢酶1166 U/L。凝血指标如下：凝血酶原时间14.3 s，活化凝血活酶原时间65.9 s，凝血酶时间32.2 s，D-二聚体18.35 mg/L，纤维蛋白原0.81 g/L。血清铁蛋白水平显著升高至高达8500 ng/mL，血清可溶性白细胞介素-2受体（sIL-2R）为13,200 U/mL。入院时，其血清EBV-DNA载量为1.99 × 10³拷贝数/mL。计算机断层扫描未发现任何肿大的淋巴结，脾脏和肝脏大小正常。骨髓形态和病理学显示没有淋巴瘤的迹象，但轻微的噬血细胞增多。骨髓抽吸物的流式细胞术未发现克隆性淋巴增生。因此，由于发热、全血细胞减少、甘油三酯升高、肝功能障碍、凝血障碍以及血清铁蛋白和sIL-2R明显升高，患者被诊断为EBV相关的噬血细胞性淋巴组织细胞增多症（HLH）。我们启动了HLH-2004方案，在诊断后立即控制她的HLH。除地塞米松、依托泊苷、环孢素A外，每隔一天皮下注射重组人干扰素（IFN）-α 2b 3亿单位。她的体温很快恢复正常，实验室指标在2周内迅速改善。她的全血细胞计数、血清生化和凝血试验在4周内完全正常化，尽管她的血清EBV-DNA载量保持在1.02 × 10的低水平²拷贝数/mL。我们逐渐减少化疗，六周后完全停用依托泊苷、地塞米松和环孢素A。IFN-α 2b作为唯一的维持治疗持续给予，6个月后逐渐减少至每周一次。该患者随访3年。她保持完全缓解，即使她的血清EBV-DNA总是可以在10至100拷贝/mL之间检测到。

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一名中国女孩被诊断患有下颌骨发育不全、耳聋、早衰样特征和脂肪营养不良(MDPL)通过POLD1突变检测

Wang Xiu-Wen, Lu Ling-Yun, Xie Ying, Yu Xi-Jie

中华医学杂志英文版2020年 133卷 16期

DOI: 10.1097/CM9.0000000000000986

摘要