Volume 131 · Issue 23 · 2018

特发性炎性肌病（IIMs）是以慢性肌无力和肌肉疲劳以及骨骼肌单核细胞浸润为特征的异质性疾病。^[1]成人中最常见的亚组是皮肌炎(DM)、多发性肌炎(PM)、无肌病性DM(ADM)、包涵体肌炎(IBM)和青少年DM(JDM)。已经开发了几种IIM的诊断或分类标准。^[2,3,4,5]分类标准多用于研究和临床试验，而不是日常实践。在过去的几十年里，人们为追求新的标准付出了巨大的努力。

Disease-modifying therapy is the standard treatment for patients with multiple sclerosis (MS) in remission. The primary objective of the current analysis was to assess the efficacy and safety of two teriflunomide doses (7 mg and 14 mg) in the subgroup of Chinese patients with relapsing MS included in the TOWER study.

TOWER was a multicenter, multinational, randomized, double-blind, parallel-group (three groups), placebo-controlled study. This subgroup analysis includes 148 Chinese patients randomized to receive either teriflunomide 7 mg (n = 51), teriflunomide 14 mg (n = 43), or placebo (n = 54).

Of the 148 patients in the intent-to-treat population, adjusted annualized relapse rates were 0.63 (95% confidence interval [CI]: 0.44, 0.92) in the placebo group, 0.48 (95% CI: 0.33, 0.70) in the teriflunomide 7 mg group, and 0.18 (95% CI: 0.09, 0.36) in the teriflunomide 14 mg group; this corresponded to a significant relative risk reduction in the teriflunomide 14 mg group versus placebo (−71.2%, P = 0.0012). Teriflunomide 14 mg also tended to reduce 12-week confirmed disability worsening by 68.1% compared with placebo (hazard ratio: 0.319, P = 0.1194). There were no differences across all treatment groups in the proportion of patients with treatment-emergent adverse events (TEAEs; 72.2% in the placebo group, 74.5% in the teriflunomide 7 mg group, and 69.8% in the teriflunomide 14 mg group); corresponding proportions for serious adverse events were 11.1%, 3.9%, and 11.6%, respectively. The most frequently reported TEAEs with teriflunomide versus placebo were neutropenia, increased alanine aminotransferase, and hair thinning.

Teriflunomide was as effective and safe in the Chinese subpopulation as it was in the overall population of patients in the TOWER trial. Teriflunomide has the potential to meet unmet medical needs for MS patients in China.

ClinicalTrials.gov, NCT00751881; https://clinicaltrials.gov/ct2/show/NCT00751881?term=NCT00751881&rank=1

Automated peritoneal dialysis (APD) can cater to individual needs, provide treatment while asleep, take into account the adequacy of dialysis, and improve the quality of life. Currently, independent research and development of APD machines made in China are more conducive to patients. A randomized, multicenter, crossover study was conducted by comparing an APD machine made in China with an imported machine. The safety, effectiveness, and manipulability of the two machines were compared.

Two hundred and sixty patients who underwent peritoneal dialysis (PD) on a regular basis in 18 centers between August 2015 and February 2016 were included. The inclusion criteria include age ≥18 years and PD ≥30 days. The exclusion criteria were as follows: hemodialysis; exit site or tunnel infection; and peritonitis ≤30 days. The patients were randomly divided into Group A, who were first treated with a FM machine made in China, then changed to an imported machine; and Group B, who were treated using the reverse sequence. APD treatment was performed with 10 L/10 h and 5 cycles of exchange. After 72 h, the daily peritoneal Kt/V, the accuracy of the injection rate, accuracy of the injection temperature, safety, and manipulability of the machine were assessed. Noninferiority test was conducted between the two groups.

The daily peritoneal Kt/V in the APD machine made in China and the imported APD machine were 0.17 (0.14, 0.25) and 0.16 (0.13, 0.23), respectively. There was no significant difference between the groups (Z = 0.15, P = 0.703). The lower limit of the daily Kt/V difference between the two groups was 0.0069, which was greater than the noninferiority value of −0.07 in this study. The accuracy of the injection rate and injection temperature was 89.7% and 91.5%, respectively, in the domestic APD machine, which were both slightly better than the accuracy rates of 84.0% and 86.8% in the imported APD machine (89.7% vs. 84.0%, P = 0.2466; 91.5% vs. 86.8%, P = 0.0954). Therefore, the APD machine made in China was not inferior to the imported APD machine. The fuselage of the imported APD machine was space-saving, while the APD machine made in China was superior with respect to body mobility, man-machine dialog operation, alarm control, and patient information recognition.

The FM machine made in China was not inferior to the imported APD machine. In addition, the FM machine made in China had better operability.

Clinicaltrials.gov, NCT02525497; https://clinicaltrials.gov/ct2/results?cond=&term=NCT02525497&cntry=& state=&city=&dist=.

Hyperphosphatemia is a risk factor associated with mortality in patients on maintenance hemodialysis. Gut absorption of phosphate is the major source. Recent studies indicated that the intestinal flora of uremic patients changed a lot compared with the healthy population, and phosphorus is an essential element of bacterial survival and reproduction. The purpose of this study was to explore the role of intestinal microbiota in phosphorus metabolism.

A prospective self-control study was performed from October 2015 to January 2016. Microbial DNA was isolated from the stools of 20 healthy controls and 21 maintenance hemodialysis patients. Fourteen out of the 21 patients were treated with lanthanum carbonate for 12 weeks. Thus, stools were also collected before and after the treatment. The bacterial composition was analyzed based on 16S ribosomal RNA pyrosequencing. Bioinformatics tools, including sequence alignment, abundance profiling, and taxonomic diversity, were used in microbiome data analyses. Correlations between genera and the serum phosphorus were detected with Pearson’s correlation. For visualization of the internal interactions and further measurement of the microbial community, SparCC was used to calculate the Spearman correlation coefficient with the corresponding P value between each two genera.

Thirteen genera closely correlated with serum phosphorus and the correlation coefficient was above 0.4 (P < 0.05). We also found that 58 bacterial operational taxonomic units (OTUs) were significantly different and more decreased OTUs were identified and seven genera (P < 0.05) were obviously reduced after using the phosphate binder. Meanwhile, the microbial richness and diversity presented downward trend in hemodialysis patients compared with healthy controls and more downward trend after phosphorus reduction. The co-occurrence network of genera revealed that the network complexity of hemodialysis patients was significantly higher than that of controls, whereas treatment with lanthanum carbonate reduced the network complexity.

Gut flora related to phosphorus metabolism in hemodialysis patients, and improving intestinal microbiota may regulate the absorption of phosphate in the intestine. The use of phosphate binder lanthanum carbonate leads to a tendency of decreasing microbial diversity and lower network complexity.

Neural respiratory drive (NRD) using diaphragm electromyography through an invasive transesophageal multi-electrode catheter can be used as a feasible clinical physiological parameter in patients with chronic obstructive pulmonary disease (COPD) to provide useful information on the treatment response. However, it remains unknown whether the surface diaphragm electromyogram (EMGdi) could be used to identify the deterioration of clinical symptoms and to predict the necessity of hospitalization in acute exacerbation of COPD (AECOPD) patients.

COPD patients visiting the outpatient department due to acute exacerbation were enrolled in this study. All patients who were subjected to EMGdi and classical parameters such as spirometry parameters, arterial blood gas analysis, COPD assessment test (CAT) score, and the modified early warning score (MEWS) in outpatient department, would be treated effectively in the outpatient or inpatient settings according to the Global Initiative for Chronic Obstructive Lung Disease guideline. When the acute exacerbation of the patients was managed, all the examination above would be repeated.

We compared the relationships of admission-to-discharge changes (Δ) in the normalized value of the EMGdi, including the change of the percentage of maximal EMGdi (ΔEMGdi%max) and the change of the ratio of minute ventilation to the percentage of maximal EMGdi (ΔVE/EMGdi%max) with the changes of classical parameters. There was a significant positive association between ΔEMGdi%max and ΔCAT, ΔPaCO₂, and ΔpH. The change (Δ) of EMGdi%max was negatively correlated with ΔPaO₂/FiO₂ in the course of the treatment of AECOPD. Compared with the classical parameters including forced expiratory volume in 1 s, MEWS, PaO₂/FiO₂, the EMGdi%max (odds ratio 1.143, 95% confidence interval 1.004–1.300) has a higher sensitivity when detecting the early exacerbation and enables to predict the admission of hospital in the whole cohort.

The changes of surface EMGdi parameters had a direct correlation with classical measures in the whole cohort of AECOPD. The measurement of NRD by surface EMGdi represents a practical physiological biomarker, which may be helpful in detecting patients who should be hospitalized timely.

Several studies have shown that detection of minimal residual disease (MRD) in acute myeloid leukemia (AML) is an independent prognostic factor. This study aimed to evaluate the significance of dynamic MRD pretransplantation on outcome of AML patients receiving allogeneic hematopoietic stem cell transplantation (allo-HSCT).

We retrospectively analyzed 145 consecutive AML patients undergoing allo-HSCT in complete remission status between June 2013 and June 2016. MRD was determined with multiparameter flow cytometry after the first and second courses of chemotherapy and pre-HSCT.

In matched sibling donor transplantation (MSDT) settings, patients with positive MRD had higher cumulative incidence of relapse (CIR) than those without MRD after the first (32.3 ± 9.7% vs. 7.7 ± 3.1%, χ² = 3.661, P = 0.055) or second course of chemotherapy (57.1 ± 3.6% vs. 12.5 ± 2.7%, χ² = 8.759, P = 0.003) or pre-HSCT (50.0 ± 9.7% vs. 23.0 ± 3.2%, χ² = 5.547, P = 0.019). In haploidentical SCT (haplo-SCT) settings, the MRD status at those timepoints had no significant impact on clinical outcomes. However, patients with persistent positive MRD from chemotherapy to pre-HSCT had higher CIR than those without persistent positive MRD both in MSDT and haplo-SCT settings. Patients with persistent positive MRD underwent MSDT had the highest relapse incidence, followed by those with persistent positive MRD underwent haplo-SCT, those without persistent MRD underwent haplo-SCT, and those without persistent MRD underwent MSDT (66.7 ± 9.2% vs. 38.5 ± 6.0% vs. 18.8 ± 8.7% vs. 12.0 ± 1.0%, χ² = 20.763, P < 0.001). Multivariate analysis showed that persistent positive MRD before transplantation was associated with higher CIR (hazard ratio [HR] = 1.69, 95% confidence interval [CI]: 1.200–2.382, P = 0.003), worse leukemia-free survival (HR = 1.812, 95% CI: 1.168–2.812, P = 0.008), and overall survival (HR = 2.354, 95% CI: 1.528–3.627, P < 0.001).

Our results suggest that persistent positive MRD before transplantation, rather than positive MRD at single timepoint, could predict poor outcome both in MSDT and haplo-SCT settings.

Glucocorticoid (GC) is the first-line therapy for asthma, but some asthmatics are insensitive to it. Glucocorticoid-induced transcript 1 gene (GLCCI1) is reported to be associated with GCs efficiency in asthmatics, while its exact mechanism remains unknown.

A total of 30 asthmatic patients received fluticasone propionate for 12 weeks. Forced expiratory volume in 1 s (FEV₁) and GLCCI1 expression were detected. Asthma model was constructed in wild-type and GLCCI1 knockout (GLCCI1^-/-) mice. Glucocorticoid receptor (GR) and mitogen-activated protein kinase phosphatase 1 (MKP-1) expression were detected by polymerase chain reaction and Western blotting (WB). The phosphorylation of p38 mitogen-activated protein kinase (MAPK) was also detected by WB.

In asthmatic patients, the change of FEV₁ was well positively correlated with change of GLCCI1 expression (r = 0.430, P = 0.022). In animal experiment, GR and MKP-1 mRNA levels were significantly decreased in asthmatic mice than in control mice (wild-type: GR: 0.769 vs. 1.000, P = 0.022; MKP-1: 0.493 vs. 1.000, P < 0.001. GLCCI1^-/-: GR: 0.629 vs. 1.645, P < 0.001; MKP-1: 0.377 vs. 2.146, P < 0.001). Hydroprednisone treatment significantly increased GR and MKP-1 mRNA expression levels than in asthmatic groups; however, GLCCI1^-/- asthmatic mice had less improvement (wild-type: GR: 1.517 vs. 0.769, P = 0.023; MKP-1: 1.036 vs. 0.493, P = 0.003. GLCCI1^-/-: GR: 0.846 vs. 0.629, P = 0.116; MKP-1: 0.475 vs. 0.377, P = 0.388). GLCCI1^-/- asthmatic mice had more obvious phosphorylation of p38 MAPK than wild-type asthmatic mice (9.060 vs. 3.484, P < 0.001). It was still higher even though after hydroprednisone treatment (6.440 vs. 2.630, P < 0.001).

GLCCI1 deficiency in asthmatic mice inhibits the activation of GR and MKP-1 and leads to more obvious phosphorylation of p38 MAPK, leading to a decremental sensitivity to GCs.

ChiCTR.org.cn, ChiCTR-RCC-13003634; http://www.chictr.org.cn/showproj.aspx?proj=5926.

DNA replication and sister chromatid cohesion 1 (DSCC1) (also called DCC1) is a component of an alternative replication factor C complex that loads proliferating cell nuclear antigen onto DNA during S phase of the cell cycle. It is located at 8q24 and frequently amplified in hepatocellular carcinoma (HCC). However, the role of DSCC1 in the carcinogenesis and progress of HCC has not been fully investigated. Here, we aimed to assert the importance of DSCC1 in the HCC.

In this study, copy number variation data and RNA sequencing data were used to calculate the DNA copy number and mRNA expression of DSCC1 in HCC. Quantitative polymerase chain reaction, Western blotting, and immunohistochemistry analysis were used to determine the mRNA and protein level of DSCC1 in HCC. The Kaplan–Meier analysis and univariate and multivariate Cox regression analysis were used to assess the association of DSCC1 with the overall survival (OS) of HCC patients. Moreover, lentiviral shRNA was used to knockdown DSCC1, and then, colony-forming assay, cell cycle assay, and cell proliferation assay were performed to evaluate the impact of DSCC1 silencing on HCC cell lines.

We found that DSCC1 was amplified and highly expressed in HCC tumor tissues than in nontumor tissues. We then found that the overexpression of both mRNA and protein of DSCC1 was linked to the bad prognosis of HCC patients. Astonishingly, the protein level of DSCC1 was an independent prognostic factor for OS (hazard ratio, 1.79; 95% confidence interval, 1.17–2.74; P = 0.007). Furthermore, the clonogenic capacity of DSCC1-amplified HCC cell lines (MHCC-97H, MHCC-97L, and Hep3B) was significantly inhibited by transduction of a lentiviral shRNA that targets DSCC1. We also showed that knockdown of DSCC1 induced G0–G1 cell cycle arrest (increased from 60% to more than 80%) and greatly inhibited the proliferation of HCC cell lines.

These results suggest that DSCC1 is a putative HCC driver gene that promotes proliferation and is associated with poor prognosis in HCC.

The demonstrated role of mitogen-activated protein kinase (MAPK) in both cell apoptosis and the inflammation pathway makes it an attractive target for photoreceptor protection. The aim of this study was to investigate the protective effects of MAPK antagonists against photoreceptor degeneration and retinal inflammation in a rat model of light-induced retinal degeneration.

Sprague Dawley rats were treated with intravitreal injections of MAPK antagonists, inhibitors of p-P38, phosphorylated-extracellular regulated kinase (p-ERK) 1/2, and p-c-Jun N-terminal kinase (JNK) just before they were assigned to dark adaptation. After dark adaptation for 24 h, rats were exposed to blue light (2500 lux) in a light box for 24 h, and then returned to the normal 12-h light/12-h dark cycle. Samples were collected at different time points. MAPK expression during light exposure was examined with immunofluorescence. Photoreceptor death was detected with histopathology and terminal deoxynucleotidyl transferase dUTP nick end labeling (TUNEL) staining. The expression of retinal p-ERK1/2, caspase 3, activated caspase 3, tumor necrosis factor (TNF)-α, and interleukin (IL)-1β was examined by Western blotting. Differences between groups were evaluated using unpaired one-way analysis of variance and least significant difference post hoc tests.

MAPKs (P38, ERK1/2, and p-JNK) were phosphorylated and activated in the light injury groups, compared with normal group, and their expressions were mainly elevated in the outer nuclear layer (ONL). Among the selected MAPK antagonists, only the p-ERK1/2 inhibitor attenuated the loss of photoreceptors and the thinning of ONL in light injury groups. Besides, p-ERK1/2 inhibitor refrained light-induced photoreceptor apoptosis, which was presented by TUNEL positive cells. Light injury significantly increased the expression of p-ERK1/2 (1.12 ± 0.06 vs. 0.57 ± 0.08, t = 9.99, P < 0.05; 1.23 ± 0.03 vs. 0.57 ± 0.08, t = 11.90, P < 0.05; and 1.12 ± 0.12 vs. 0.57 ± 0.08, t = 9.86, P < 0.05; F = 49.55, P < 0.001), and induced caspase 3 activating (0.63 ± 0.06 vs. 0.14 ± 0.05, t = 13.67, P < 0.05; 0.74 ± 0.05 vs. 0.14 ± 0.05, t = 16.87, P < 0.05; and 0.80 ± 0.05 vs. 0.14 ± 0.05, t = 18.57, P < 0.05; F = 100.15, P < 0.001), compared with normal group. The p-ERK1/2 inhibitor significantly reduced p-ERK1/2 overexpression (0.61 ± 0.06 vs. 1.12 ± 0.06, t = −9.26, P < 0.05; 0.77 ± 0.06 vs. 1.23 ± 0.03, t = −8.29, P < 0.05; and 0.68 ± 0.03 vs. 1.12 ± 0.12, t = −7.83, P < 0.05; F = 49.55, P < 0.001) and downregulated caspase 3 activating (0.23 ± 0.04 vs. 0.63 ± 0.06, t = −11.24, P < 0.05; 0.43 ± 0.03 vs. 0.74 ± 0.05, t = −8.86, P < 0.05; and 0.58 ± 0.03 vs. 0.80 ± 0.05, t = −6.17, P < 0.05; F = 100.15, P < 0.001), compared with light injury group. No significant change in the total level of caspase 3 was seen in different groups (F = 0.56, P = 0.75). As for inflammation, light injury significantly increased the expression of TNF-α (0.42 ± 0.04 vs. 0.25 ± 0.05, t = 5.99, P < 0.05; 0.65 ± 0.03 vs. 0.25 ± 0.05, t = 14.87, P < 0.05; and 0.86 ± 0.04 vs. 0.25 ± 0.05, t = 22.58, P < 0.05; F = 160.27, P < 0.001) and IL-1β (0.24 ± 0.01 vs. 0.19 ± 0.02, t = 2.33, P < 0.05; 0.35 ± 0.02 vs. 0.19 ± 0.02, t = 7.97, P < 0.05; and 0.48 ± 0.04 vs. 0.19 ± 0.02, t = 14.69, P < 0.05; F = 77.29, P < 0.001), compared with normal group. P-ERK1/2 inhibitor significantly decreased the overexpression of TNF-α (0.22 ± 0.02 vs. 0.42 ± 0.04, t = −7.40, P < 0.05; 0.27 ± 0.02 vs. 0.65 ± 0.03, t = −14.27, P < 0.05; and 0.33 ± 0.03 vs. 0.86 ± 0.04, t = −19.58, P < 0.05; F = 160.27, P < 0.001) and IL-1β (0.13 ± 0.03 vs. 0.24 ± 0.01, t = −5.77, P < 0.05; 0.17 ± 0.01 vs. 0.22 ± 0.02, t = −9.18, P < 0.05; and 0.76 ± 0.05 vs. 0.48 ± 0.04, t = −13.12, P < 0.05; F = 77.29, P < 0.001), compared with light injury group.

The p-ERK1/2 inhibitor might protect the retina from light-induced photoreceptor degeneration and retinal inflammation.

Systemic lupus erythematosus (SLE) is an autoimmune disease under genetic control. Growing evidences support the genetic predisposition of HLA-DRB1 gene polymorphisms to SLE, yet the results are not often reproducible. The purpose of this study was to assess the association of two polymorphisms of HLA-DRB1 gene (HLA-DR3 and HLA-DR15) with the risk of SLE via a comprehensive meta-analysis.

This study complied with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses statement. Case-control studies on HLA-DRB1 and SLE were searched from PubMed, Elsevier Science, Springer Link, Medline, and Cochrane Library database as of June 2018. Analysis was based on the random-effects model using STATA software version 14.0.

A total of 23 studies were retained for analysis, including 5261 cases and 9838 controls. Overall analysis revealed that HLA-DR3 and HLA-DR15 polymorphisms were associated with the significant risk of SLE (odds ratio [OR]: 1.60, 95% confidence interval (CI): 1.316–1.934, P = 0.129 and OR: 1.68, 95% CI: 1.334–2.112, P = 0.001, respectively). Subgroup analyses demonstrated that for both HLA-DR3 and HLA-DR15 polymorphisms, ethnicity was a possible source of heterogeneity. Specifically, HLA-DR3 polymorphism was not associated with SLE in White populations (OR: 1.60, 95% CI: 1.320–1.960, P = 0.522) and HLA-DR15 polymorphism in East Asian populations (OR: 1.65, 95% CI: 1.248–2.173, P = 0.001). In addition, source of control was another possible source for both HLA-DR3 and HLA-DR15 polymorphisms, with observable significance for HLA-DR3 in only population-based studies (OR: 1.65, 95% CI: 1.370–1.990, P = 0.244) and for HLA-DR15 in both population-based and hospital-based studies (OR: 1.38, 95% CI: 1.078–1.760, P = 0.123 and OR: 2.08, 95% CI: 1.738–2.490, P = 0.881, respectively).

HLA-DRB1 gene may be a SLE-susceptibility gene, and it shows evident ethnic heterogeneity. Further prospective validations across multiple ethnical groups are warranted.

In previous decades, glaucoma has been primarily attributed to elevated intraocular pressure (IOP), but this has gradually been replaced by the development of optic neuropathy as the central concept of glaucoma in developed countries. However, there still remain strong controversies in the definition of glaucoma in China. In this current review, we are going to discuss these controversies and elaborate on the historical transitions of the definition of glaucoma both in China and developed countries. Furthermore, we will briefly describe the "ocular-cranial pressure gradient" theory and discuss the relationship between glaucoma and degenerative diseases of the central nervous system (CNS) in order to show the complex pathogenesis of glaucoma and the importance for the modification to the definition of glaucoma.

We performed a comprehensive search in both PubMed and SinoMed using the following keywords: (a) "primary glaucoma" and "guideline," (b) "ocular-cranial pressure gradient," and (c) "glaucoma," "Alzheimer’s disease," and "Parkinson’s disease." The literature search included the related articles with no restrictions on publication date.

The primary references were Chinese and English articles including (a) original guidelines and expert consensuses of primary glaucoma, (b) reviews focusing on the differences between various versions of these guidelines and consensuses, and (c) papers about ocular-cranial pressure gradient theory and the relationship between glaucoma and CNS degenerative diseases.

The definitions and classifications of both primary open-angle glaucoma and primary angle-closure glaucoma differ between Chinese glaucoma consensuses and international primary glaucoma guidelines. Chinese definitions and classifications put more emphasis on the IOP, while international guidelines put more emphasis on the presence of optic neuropathy. The ocular-cranial pressure gradient theory and the research on the relationship between glaucoma and CNS degenerative diseases have provided new directions for exploring the pathogenesis of glaucoma.

As regards the definition and classification of primary glaucoma, we find that there are still some discrepancies between Chinese expert consensuses and international guidelines. Glaucoma is a disease with complex etiologies, while its common characteristic is a specific optic neuropathy. The current definition and understanding of glaucoma is an ongoing and evolving process, reflecting our latest available evidence on its pathogenesis. Chinese ophthalmology community may need to update our guidelines, accommodating these latest developments.

致编辑：一名27岁的中国男子到医院就诊，主诉胸部和背部有红色结节，逐渐增大，发烧高达39°C。21岁时患结节性脂膜炎。家族史是沉默的。入院查体示皮肤色素沉着，皮肤结节（4个，2cm × 2cm，无活动、压痛），全身无痛痒红疹。实验室检查显示全血细胞减少，尤其是白细胞（WBC）和血小板（PLT），甘油三酯（TGs）和铁蛋白水平升高，肝酶异常，白蛋白值降低，凝血功能紊乱。其他自身抗体谱（包括抗核抗体和抗环瓜氨酸肽）和甲状腺功能检查未显示异常。超声提示脾肿大和肝脏钙化。胸部高分辨率计算机断层扫描显示肺右上叶磨玻璃影，与心包和胸腔积液一致，双侧腋窝淋巴结肿大数量增加。皮肤结节和皮下组织活检显示间隔和小叶纤维增生，小叶间隔内和皮肤附件周围淋巴细胞浸润[图1].结果表现为结节性脂膜炎。骨髓抽吸提示造血细胞增殖。患者符合分类标准，被诊断为结节性脂膜炎。^[1]此外，根据2004年HLH试验指南，他被诊断为噬血细胞性淋巴组织细胞增多症（HLH）（TG和铁蛋白水平升高，WBC和PLT计数降低，纤维蛋白原低，发热和脾肿大）。^[2]

致编者：小儿中风是指动脉或静脉的破裂和/或闭塞。它是儿童过早死亡和长期残疾的最高原因之一。卫生保健提供者发现处理儿童中风是一个挑战，因为诊断困难，缺乏标准指南，进展迅速，死亡率高。在本研究中，我们观察和分析了六例小儿出血性卒中合并先天性心脏病（CHD）干预的特点。我们发现血管畸形、血流动力学波动和术后抗凝药物是这种情况的危险因素，迫切需要认识和承认。

致编者：儿茶酚胺能多形性室性心动过速（CPVT）常发生于无器质性心脏病的儿童或青少年。它是一种罕见的具有遗传特征的恶性心律失常性疾病，以运动或情绪应激诱发的室性心律失常为特征，尤其是双向/多形性室性心动过速（VT）、晕厥或猝死。^[1]30岁前有症状的CPVT患者死亡率为31%，^[2]早期使用β受体阻滞剂治疗可有效改善其预后。^[3]因此，及时确诊CPVT至关重要。在此背景下，本研究总结了小儿CPVT病例的临床特征和诊断。本研究经清华大学第一医院伦理委员会批准（编号：HX200901），按照1964赫尔辛基宣言.

致编辑：酒精依赖是一种严重的精神障碍，会对患者的身体和心理产生毁灭性的影响。据报道，酒精依赖是15至49岁人群死亡的主要原因之一。^[1]因此，综合干预对于降低酒精依赖患者的死亡率和残疾非常重要。^[2]

编者按：近年来，吞咽困难的研究取得了重大进展。这一点很重要，因为大约50%的急性脑卒中后吞咽困难患者仍有缓慢的功能恢复，病程可能持续数月或终生。吞咽困难治疗的最终目的是让患者能够再次进食，并检查进食条件的影响在吞咽困难研究中是否不可避免。与进食相关的外周传入神经系统的变化，如消化团特征和进食姿势，可导致中枢神经网络的传入通路对吞咽的调整，随后口咽肌肉活动的时间顺序、持续时间和强度的相应变化。治疗师往往根据自己直接摄入训练的经验选择消化团，而没有对吞咽肌群活动进行定量评估。为探讨消化团黏度变化对吞咽生理的影响，研究其与吞咽肌群活动的关系及其在吞咽困难发生机制中的作用，本研究采用表面肌电图（SEMG）技术实时、动态、同步地观察肌群活动特征。

致编者：垂体病是一组垂体疾病，包括垂体腺瘤和鞍区的其他病变。^[1]典型的内分泌症状和肿块效应很可能对患者、家庭和社会产生有害后果。在美国和欧洲已经建立了各种规模和重点的垂体数据库。^[2,3,4]幅员辽阔、经济发展不平衡、医疗可及性不均、对疾病认识的偏颇、资料收集技术的不理想等严重影响了我国垂体病患者的预后。^[2]中国垂体疾病登记网络（CPDRN）成立于2015年，是中国第一个多中心、全国性的垂体疾病登记中心，旨在解决上述问题。^[5]本文描述了CPDRN的建立过程和人口统计学基线。

致编者：阵发性睡眠性血红蛋白尿症（PNH）的临床症状谱包括慢性血管内溶血、血红蛋白尿、相对骨髓衰竭和罕见的血栓形成。^[1]PNH引起的神经系统并发症几乎完全是脑静脉血栓形成的结果。^[1,2,3]然而，继发于PNH的烟雾综合征（MMS）（PNH-MMS）在文献中很少描述。^[2,3,4,5]我们在此报告一例PNH-MMS病例，以提高表现为急性神经功能缺损的PNH患者对该疾病的认识。

致编者：卵巢成人颗粒细胞瘤（AGCT）是一种低度恶性、性索间质肿瘤，病程惰性，复发晚期。复发通常发生在首次治疗后5年以上。^[1]然而，也有少数侵袭性AGCT病例的报道。^[2,3]我们回顾性回顾了2000年至2018年间北京协和医院的所有213例AGCT患者，并确定了6例复发的I期病例<五年了。北京协和医院伦理委员会特别批准了本研究（编号S-K413），所有纳入的患者都提供了参与研究的书面知情同意书。

编者按：先天性心脏病（CHDs）是我国最常见的先天性结构异常。大多数在出生后是可以治愈的。然而，一些缺陷在胎儿期发展，从而导致高新生儿死亡率和发病率。胎儿期室间隔完整的肺动脉闭锁（PA/IVS）部分与右心室（RV）发育不全及其随之而来的血流动力学恶化有关，这限制了出生后双心室（BV）修复的可能性。PA/IVS活产的1年生存率约为70%，但BV结局率约为30%。^[1]

致编者：贲门失弛缓症是一种原发性食管动力障碍。^[1]贲门失弛缓症的病因尚不清楚，但与食管肌层（奥尔巴赫神经丛）神经元变性、减少或缺失有关，导致神经肌肉传导异常。^[2]已证明兴奋性神经元诱导钙离子（Ca²⁺）活动，通过释放乙酰胆碱使平滑肌收缩^[3]在食管中，一氧化氮（NO）和血管活性肠肽（VIP）通过抑制性神经元诱导平滑肌松弛。^[4]也可能涉及硫化氢合酶。^[5]我们测量了L型钙通道的表达，^[6]、兰尼碱受体(RyRs)、^[7]肌醇1，4，5-三磷酸受体₃Rs），^[7]和NO合酶^[4,8]贲门失弛缓症患者食管下段环行肌。该结果对贲门失弛缓症的发病机制有了更好的认识。