Volume 134 · Issue 22 · 2021

Cardiovascular diseases are associated with an increased risk of depression, but it remains unclear whether treatment with cardiovascular agents decreases or increases this risk. The effects of drugs on individual usage are also often unknown. This review aimed to examine the correlation between depression and common cardiovascular drugs, develop more potent interventions for depression in cardiovascular patients, and further research on the bio-behavioural mechanisms linking cardiovascular drugs to depression.

The data in this review were obtained from articles included in PubMed, EMBASE, and Web of Science.

Clinical trials, observational studies, review literature, and guidelines about depression and cardiovascular drugs were selected for the article.

We systematically investigated whether the seven most used cardiovascular drugs were associated with altered risk of incident depression in this literature review. Statins have been proven to have antidepressant effects. Some studies believe angiotensin-converting enzyme inhibitors (ACEIs)/angiotensin receptor blocker (ARB) can exert an antidepressant influence by acting on the renin-angiotensin system, but further clinical trials are needed to confirm this. Beta-blockers have previously been associated with depression, but the current study found no significant association between beta blockers and the risk of depression. Aspirin may have antidepressant effects by suppressing the immune response, but its role as an antidepressant remains controversial. calcium channel blockers (CCBs) can regulate nerve signal transduction by adjusting calcium channels, but whether this effect is beneficial or harmful to depression remains unclear. Finally, some cases have reported that nitrates and diuretics are associated with depression, but the current clinical evidence is insufficient.

Statins have been proven to have antidepressant effect, and the antidepressant effects of ACEIs/ARB and aspirin are still controversial. CCBs are associated with depression, but it is unclear whether it is beneficial or harmful. No association has been found with β-blockers, diuretics, and nitrates.

Intravenous thrombolysis (IVT) is an effective way for treating acute ischemic stroke (AIS). However, its effects have not been established among AIS patients with unclear stroke symptoms or with stroke onset for >4.5 h.

We searched PubMed, Embase, Web of Science, Cochrane Central Register of Controlled Trials and Google Scholar databases for randomized controlled trials that compared IVT (IVT group) and placebo or usual care (control group [CG]) in AIS patients with disease onset for >4.5 h. The outcomes of interest included the favorable functional outcome (defined as modified Rankin Scale [mRS] scores 0-1) at 90 days, the functional independence (defined as mRS scores 0-2) at 90 days, proportion of patients with symptomatic intracerebral hemorrhage (sICH) and death at 90 days. We assessed the risk of bias using the Cochrane tool. Pre-specified subgroup analyses were performed by age (≤70 years or >70 years), National Institute of Health Stroke Scale (NIHSS, ≤10 or >10) and time window (4.5-9.0 h or >9.0 h).

Four trials involving 848 patients were eligible. The risk of bias of included trials was low. Patients in the IVT group were more likely to achieve favorable functional outcomes (45.8% vs. 36.7%; OR 1.48, 95% CI 1.12-1.96) and functional independence (63.8% vs. 55.7%; OR 1.43, 95% CI 1.08-1.90) at 90 days, but had higher risk of sICH (3.0% vs. 0.5%; OR 5.28, 95% CI 1.35-20.68) at 90 days than those in the CG. No significant difference in death at 90 days was found between the two groups (7.0% vs. 4.1%; OR 1.80; 95% CI 0.97-3.34).

Use of IVT in patients with extended time window may improve their functional outcomes at 90 days, although IVT may induce increased risk of sICH. Care of these patients should well balance the potential benefits and harms of IVT.

注射硬化疗法对内痔最有效，尤其是对有出血的患者。然而，通过肛门镜的传统硬化治疗可能会因错位注射而导致医源性风险和并发症。^[1]1991年，美国首次报道了使用无帽辅助的短针进行内痔的柔性内镜硬化治疗。^[2]2014年，日本报道了使用带帽辅助的短针进行柔性内窥镜注射。^[3]2015年报告了主要使用长针的Cap辅助内镜硬化治疗（CAES）^[4]作为一种新兴的柔性内镜疗法，在国内已广泛应用于内痔和部分脱垂。一个专家小组旨在为CAES制定专家建议，并就痔疮疾病的关键问题制定衍生指南，包括基本原理、新的肛门定位方法、适应症、禁忌症、技术、术后管理和评估的核心结果集[图1].

The past decade has witnessed an ever-increasing momentum of transcatheter aortic valve replacement (TAVR) and a subsequent paradigm shift in the contemporary management of severe aortic stenosis (AS). We conducted a multi-centric TAVR registry based on Chinese patients (the China Aortic valve tRanscatheter Replacement registrY [CARRY]) to delineate the clinical characteristics and outcomes of Chinese patients who underwent TAVR and compare the results between different valve types in different Chinese regions.

CARRY is an all-comer registry of aortic valve disease patients undergoing TAVR across China and was designed as an observational study that retrospectively included all TAVR patients at each participating site. Seven hospitals in China participated in the CARRY, and 1204 patients from April 2012 to November 2020 were included. Categorical variables were compared using the chi-squared test, and continuous variables were analyzed using a t test or analysis of variance (ANOVA) test. The Kaplan-Meier curve was used to estimate the risk of adverse events during follow-up.

The mean age of the patients was 73.8 ± 6.5 years and 57.2% were male. The median Society of Thoracic Surgeon-Predicted Risk of Mortality score was 6.0 (3.7-8.9). Regarding the aortic valve, the proportion of bicuspid aortic valve (BAV) was 48.5%. During the hospital stay, the stroke rate was 0.7%, and the incidence of high-degree atrioventricular block indicating permanent pacemaker implantation was 11.0%. The in-hospital all-cause mortality rate was 2.2%. After 1 year, the overall mortality rate was 4.5%. Compared to patients with tricuspid aortic valve (TAV), those with BAV had similar in-hospital complication rates, but a lower incidence of in-hospital mortality (1.4% vs. 3.3%) and 1 year mortality (2.3% vs. 5.8%).

TAVR candidates in China were younger, higher proportion of BAV, and had lower rates of post-procedural complications and mortality than other international all-comer registries. Given the use of early generation valves in the majority of the population, patients with BAV had similar rates of complications, but lower mortality than those with TAV. These findings further propel the extension of TAVR in low-risk patients.

https://www.chictr.org.cn/(No. ChiCTR2000038526).

Nitinol-containing devices are widely used in clinical practice. However, there are concerns about nickel release after nitinol-containing device implantation. This study aimed to compare the efficacy and safety of a parylene-coated occluder vs. a traditional nitinol-containing device for atrial septal defect (ASD).

One-hundred-and-eight patients with ASD were prospectively enrolled and randomly assigned to either the trial group to receive a parylene-coated occluder (n = 54) or the control group to receive a traditional occluder (n = 54). The plugging success rate at 6 months after device implantation and the pre- and post-implantation serum nickel levels were compared between the two groups. A non-inferiority design was used to prove that the therapeutic effect of the parylene-coated device was non-inferior to that of the traditional device. The Cochran-Mantel-Haenszel chi-squared test with adjustment for central effects was used for the comparison between groups.

At 6 months after implantation, successful ASD closure was achieved in 52 of 53 patients (98.11%) in both the trial and control groups (95% confidence interval (CI): [-4.90, 5.16]) based on per-protocol set analysis. The absolute value of the lower limit of the 95% CI was 4.90%, which was less than the specified non-inferiority margin of 8%. No deaths or severe complications occurred during 6 months of follow-up. The serum nickel levels were significantly increased at 2 weeks and reached the maximum value at 1 month after implantation in the control group (P < 0.05 vs. baseline). In the trial group, there was no significant difference in the serum nickel level before vs. after device implantation (P > 0.05).

The efficacy of a parylene-coated ASD occluder is non-inferior to that of a traditional uncoated ASD occluder. The parylene-coated occluder prevents nickel release after device implantation and may be an alternative for ASD, especially in patients with a nickel allergy.

Breast cancer patients with ipsilateral supraclavicular lymph node metastasis (ISLNM) but without distant metastasis are considered to have a poor prognosis. This study aimed to develop a nomogram to predict the overall survival (OS) of breast cancer patients with ISLNM but without distant metastasis.

Medical records of breast cancer patients who received surgical treatment at the Affiliated Cancer Hospital of Zhengzhou University, Jiyuan People’s Hospital and Huaxian People’s Hospital between December 21, 2012 and June 30, 2020 were reviewed retrospectively. Overall, 345 patients with pathologically confirmed ISLNM and without evidence of distant metastasis were identified. They were further randomized 2:1 and divided into training (n = 231) and validation (n = 114) cohorts. A nomogram to predict the probability of OS was constructed based on clinicopathologic variables identified by the univariable and multivariable analyses. The predictive accuracy and discriminative ability were measured by calibration plots, concordance index (C-index), and risk group stratification.

Univariable analysis showed that estrogen receptor-positive (ER+), progesterone receptor-positive (PR+), human epidermal growth factor receptor 2-positive (HER2+) with Herceptin treatment, and a low axillary lymph node ratio (ALNR) were prognostic factors for better OS. PR+, HER2+ with Herceptin treatment, and a low ALNR remained independent prognostic factors for better OS on multivariable analysis. These variables were incorporated into a nomogram to predict the 1-, 3-, and 5-year OS of breast cancer patients with ISLNM. The C-indexes of the nomogram were 0.737 (95% confidence interval [CI]: 0.660-0.813) and 0.759 (95% CI: 0.636-0.881) for the training and the validation cohorts, respectively. The calibration plots presented excellent agreement between the nomogram prediction and actual observation for 3 and 5 years, but not 1 year, OS in both the cohorts. The nomogram was also able to stratify patients into different risk groups.

In this study, we established and validated a novel nomogram for predicting survival of patients with ISLNM. This nomogram may, to some extent, allow clinicians to more accurately estimate prognosis and to make personalized therapeutic decisions for individual patients with ISLNM.

There is limited information about thymosin α1 (Tα1) as adjuvant immunomodulatory therapy, either used alone or combined with other treatments, in patients with non-small cell lung cancer (NSCLC). This study aimed to evaluate the effect of adjuvant Tα1 treatment on long-term survival in margin-free (R0)-resected stage IA-IIIA NSCLC patients.

A total of 5746 patients with pathologic stage IA-IIIA NSCLC who underwent R0 resection were included. The patients were divided into the Tα1 group and the control group according to whether they received Tα1 or not. A propensity score matching (PSM) analysis was performed to reduce bias, resulting in 1027 pairs of patients.

After PSM, the baseline clinicopathological characteristics were similar between the two groups. The 5-year disease-free survival (DFS) and overall survival (OS) rates were significantly higher in the Tα1 group compared with the control group. The multivariable analysis showed that Tα1 treatment was independently associated with an improved prognosis. A longer duration of Tα1 treatment was associated with improved OS and DFS. The subgroup analyses showed that Tα1 therapy could improve the DFS and/or OS in all subgroups of age, sex, Charlson Comorbidity Index (CCI), smoking status, and pathological tumor-node-metastasis (TNM) stage, especially for patients with non-squamous cell NSCLC and without targeted therapy.

Tα1 as adjuvant immunomodulatory therapy can significantly improve DFS and OS in patients with NSCLC after R0 resection, except for patients with squamous cell carcinoma and those receiving targeted therapy. The duration of Tα1 treatment is recommended to be >24 months.

Histological and functional recovery after peripheral nerve injury (PNI) is of significant clinical value as delayed surgical repair and longer distances to innervate terminal organs may account for poor outcomes. Low-intensity extracorporeal shock wave therapy (LiESWT) has already been proven to be beneficial for injured tissue recovery on various pathological conditions. The objective of this study was to explore the potential effect and mechanism of LiESWT on PNI recovery.

In this project, we explored LiESWT’s role using an animal model of sciatic nerve injury (SNI). Shockwave was delivered to the region of the SNI site with a special probe at 3 Hz, 500 shocks each time, and 3 times a week for 3 weeks. Rat Schwann cells (SCs) and rat perineurial fibroblasts (PNFs) cells, the two main compositional cell types in peripheral nerve tissue, were cultured in vitro, and LiESWT was applied through the cultured dish to the adherent cells. Tissues and cell cultures were harvested at corresponding time points for a reverse transcription-polymerase chain reaction, Western blotting, and immunofluorescence staining. Multiple groups were compared by using one-way analysis of variance followed by the Tukey-Kramer test for post hoc comparisons.

LiESWT treatment promoted the functional recovery of lower extremities with SNI. More nerve fibers and myelin sheath were found after LiESWT treatment associated with local upregulation of mechanical sensitive yes-associated protein (YAP)/transcriptional co-activator with a PDZ-binding domain (TAZ) signaling pathway. In vitro results showed that SCs were more sensitive to LiESWT than PNFs. LiESWT promoted SCs activation with more expression of p75 (a SCs dedifferentiation marker) and Ki67 (a SCs proliferation marker). The SCs activation process was dependent on the intact YAP/TAZ signaling pathway as knockdown of TAZ by TAZ small interfering RNA significantly attenuated this process.

The LiESWT mechanical signal perception and YAP/TAZ upregulation in SCs might be one of the underlying mechanisms for SCs activation and injured nerve axon regeneration.

The chaperonin containing t-complex (CCT) proteins play an important role in cell cycle-related protein degradation in yeast and mammals. The role of the chaperonin containing t-complex 4 (CCT4), one subtype of CCT proteins, in the progress of hepatocellular carcinoma (HCC) was not fully elucidated. Here, we aimed to explore the mechanisms of CCT4 in HCC.

In this study, we used the UALCAN platform to analyze the relationship between CCT4 and HCC, and the association of CCT4 with the overall survival (OS) of HCC patients was also analyzed. CCT4 expression in HCC tumor tissues and normal tissues was also determined by western blot (WB) assay. Lentivirus vector was used to knock down the CCT4 expression, and quantitative polymerase chain reaction and WB were used to determine the level of CCT4 in HCC cell lines. Cell counting kit-8 (CCK-8) and 5-ethynyl-2^＇-deoxyuridine (EdU) assays were used to detect the cell proliferation, and flow cytometry (FCM) was performed to evaluate the effect of CCT4 on the apoptosis of HCC cells. Co-immunoprecipitation (co-IP) assay and WB were used to explore the mechanisms of CCT4 regulating the growth of HCC. Data were calculated from at least three replicate experiments and expressed as mean ± standard deviation. Student’s t test, paired t test, and Kaplan-Meier analysis were used to compare across different groups.

We found CCT4 was upregulated in HCC tissues compared with normal tissues, and its high expression was associated with poor prognosis (P < 0.001). CCT4 was significantly increased in HCC tumor tissues compared with normal tissues (0.98 ± 0.12 vs. 0.23 ± 0.05, t = 7.73, P < 0.001). After being transfected with CCT4 short-hairpin RNA (shRNA), CCT4 was decreased in mRNA level and protein level in both Huh7 (mRNA level: 0.41 ± 0.07 vs. 1.01 ± 0.11, t = 8.09, P = 0.001; protein level: 0.61 ± 0.03 vs. 0.93 ± 0.07, t = 7.19, P = 0.002) and Hep3b cells (mRNA level: 0.55 ± 0.11 vs. 1.04 ± 0.15, t = 4.51, P = 0.011; protein level: 0.64 ± 0.10 vs. 0.95 ± 0.08, t = 4.32, P = 0.012). CCK8 assay indicated that CCT4 knockdown inhibited cell proliferation in both Huh7 (OD value of 3 days: 0.60 ± 0.14 vs. 0.97 ± 0.16, t = 3.13, P = 0.036; OD value of 4 days: 1.03 ± 0.07 vs. 1.50 ± 0.12, t = 5.97, P = 0.004) and Hep3b (OD value of 3 days: 0.69 ± 0.14 vs. 1.10 ± 0.11, t = 3.91, P = 0.017; OD value of 4 days: 1.12 ± 0.12 vs. 1.48 ± 0.13, t = 3.55, P = 0.024) cells. EdU assay showed that CCT4 knockdown inhibited the cell proliferation in both Huh7 (EdU positive rate: [31.25 ± 3.41]% vs. [58.72 ± 3.78]%, t = 9.34, P = 0.001) and Hep3b cells (EdU positive rate: [44.13 ± 7.02]% vs. [61.79 ± 3.96]%, t = 3.79, P = 0.019). FCM assay suggested that CCT4 knockdown induced apoptosis in HCC cells (apoptosis rate of Huh7: [9.10 ± 0.80]% vs. [3.66 ± 0.64]%, t = -9.18, P = 0.001; apoptosis rate of Hep3b: [6.69 ± 0.72]% vs. [4.20 ± 0.86]%, t = -3.84, P = 0.018). We also found that CCT4 could regulate anaphase-promoting complex (APC)^Cdc20 activity via interacting with Cdc20. Furthermore, CCT4 knockdown induced securin (0.65 ± 0.06 vs. 0.44 ± 0.05, t = -4.69, P = 0.009) and B-cell lymphoma-2 (Bcl-2) interacting mediator of cell death (Bim; 0.96 ± 0.06 vs. 0.61 ± 0.09, t = -5.65, P = 0.005) accumulation. The upregulation of securin inhibited cell growth by downregulating cyclin D1 (0.65 ± 0.05 vs. 1.04 ± 0.07, t = 8.12, P = 0.001), and the accumulation of Bim inhibited Bcl-2 (0.77 ± 0.04 vs. 0.87 ± 0.04, t = 3.00, P = 0.040) and activated caspase 9 (caspase 9: 0.77 ± 0.04 vs. 0.84 ± 0.05, t = 1.81, P = 0.145; cleaved caspase 9: 0.64 ± 0.06 vs. 0.16 ± 0.07, t = 1.81, P = 0.001), which led to elevated apoptosis.

Overall, these results showed that CCT4 played an important role in HCC pathogenesis through, at least partly, interacting with Cdc20.

Shenque (CV8) acupoint is located on the navel and has been therapeutically used for more than 2000 years in Traditional Chinese Medicine (TCM). However, clinical research on the underlying therapeutic molecular mechanisms of the CV8 acupoint lags far behind. This study aimed to study the mechanisms of umbilical acupoint therapy by using stem cells.

The morphological characteristics of CV8 acupoint were detected under a stereomicroscope using hematoxylin and eosin (H&E) staining. Oil Red, Masson, and immunohistochemical staining on multi-layered slices were used to identify the type of cells at the CV8 acupoint. Cell proliferation was measured by a cell counting kit-8 (CCK-8) method. Flow cytometry and immunohistochemistry were used for cell identification. Induced differentiation was used to compare the differentiation of cells derived from CV8 acupoint and non-acupoint somatic stem cells into other cell types, such as osteogenic, adipogenic, and neural stem cell-like cells.

Morphological observations showed that adipose tissues at the linea alba of the CV8 acupoint in mice had a mass-like distribution. Immunohistochemical staining confirmed the distribution of stem cell antigen-1 (Sca-1) positive cells in the multi-layered slices of CV8 acupoint tissues. Cells isolated from adipose tissues at the CV8 acupoint exhibited high expression of Sca-1 and CD44 and low expression of CD31 and CD34, and these cells possessed osteogenic, adipogenic, and neurogenic stem cell-like cell differentiation ability. The cell proliferation (day 4: 0.5138 ± 0.0111 vs. 0.4107 ± 0.0180, t = 8.447, P = 0.0011; day 5: 0.6890 ± 0.0070 vs. 0.5520 ± 0.0118, t = 17.310, P < 0.0001; day 6: 0.7320 ± 0.0090 vs. 0.6157 ± 0.0123, t = 13.190, P = 0.0002; and day 7: 0.7550 ± 0.0050 vs. 0.6313 ± 0.0051, t = 42.560, P < 0.0001), adipogenic ([9.224 ± 0.345]% vs. [3.933 ± 1.800]%, t = 5.000, P = 0.0075), and neurogenic stem cell-like cell differentiation (diameter < 50 μm: 7.2000 ± 1.3040 vs. 2.6000 ± 0.5477, t = 7.273, P < 0.0001; diameter 50-100 μm: 2.6000 ± 0.5477 vs. 1.0000 ± 0.7071, t = 4.000, P = 0.0039; and diameter >100 μm: 2.6000 ± 0.5477 vs. 0.8000 ± 0.8367, t = 4.025, P = 0.0038) were significantly enhanced in somatic stem cells derived from the CV8 acupoint compared to somatic stem cells from the groin non-acupoint. However, cells possessed significantly weaker osteogenicity ([2.697 ± 0.627]% vs. [7.254 ± 0.958]%, t = 6.893, P = 0.0023) in the CV8 acupoint group.

Our study showed that CV8 acupoint was rich with adipose tissues that contained abundant somatic stem cells. The biological examination of somatic stem cells derived from the CV8 acupoint provided novel insights for future research on the mechanisms of umbilical therapy.

随着世界范围内经导管主动脉瓣置换(TAVR)证据的积累，人们逐渐认识到，不同国家接受治疗的患者是不同的，包括但不限于他们的年龄、习性、疾病病因、主动脉瓣形态和结构大小。^[1]在中国，TAVR患者的平均年龄比工业化国家年轻5岁左右，^[2]由于该技术扩展到年轻患者，使中国患者成为工业化国家在不久的将来可能在TAVR筛查中看到的良好预测样本，但在中国患者人群中从多层计算机断层扫描（MSCT）中欣赏的解剖特征尚未得到很好的证明。

大动脉转位（TGA）是一种严重而复杂的先天性心脏病，占所有先天性心脏畸形的5%~7%。大多数TGA胎儿可以稳定存活至分娩。出生后，他们的存活取决于相关的室间隔缺损（VSD）、房间隔缺损（ASD）或动脉导管未闭（PDA）。如果不进行治疗，这些婴儿中大约30%在出生后第一周死亡，90%在第一年内死亡。^[1]动脉转换手术现在是世界公认的治疗TGA的有效方法，并且这种方法已经取得了良好的效果。ASO在我中心实施较晚，早期患者少，死亡率高。近年来，无论是患者数量还是生存率，都随着手术团队技术的逐步提高而提高。随着胎儿超声心动图的发展和推广，越来越多的患者被产前诊断。从怀孕到分娩再到手术，TGA患儿都需要多学科医护人员密切配合进行监测。本研究回顾性总结了2014年1月至2019年12月在我中心接受ASO的87例患者的数据，以分析影响患者预后的主要非手术因素[表1].本研究经山东省立医院伦理委员会批准。

已知通过双心室起搏（BVP）的心脏再同步治疗（CRT）可改善临床结局并降低全因死亡率，特别是在左束支传导阻滞（LBBB）和左心室（LV）功能降低的患者中。^[1]最近，几个小组通过以稳定的阈值和短的QRS持续时间（QRSd）起搏超过阻滞部位的左束支（LBB）区域，证明了左束支区域起搏（LBBAP）作为LBBB患者His束起搏的替代选择的可行性。^[2,3]然而，尚不清楚具有适当房室（AV）延迟的LBBAP的临床疗效是否与LV心外膜起搏或CRT相同或更好。

致编辑：室间隔缺损（VSD）作为最常见的先天性心脏缺损，占所有先天性心脏畸形的比例高达40%。^[1]传统的体外循环手术修复创伤大，恢复时间长，经皮器械闭合并不适用于所有类型的室间隔缺损。随着微创手术在心脏外科中变得越来越普遍，在经食管超声心动图（TEE）引导下微创封堵器装置闭合VSD被广泛使用，具有良好的初步、中期和长期结果。^[2,3,4]剑突下小切口和胸骨旁的左第三/第四肋间隙是VSD器械闭合的两个主要切口。然而，两种切口之间的差异尚不清楚。本报告描述了我们使用两个切口进行VSD器械闭合的经验。

由于高度的异质性，弥漫性大B细胞淋巴瘤（DLBCL）的不同原发部位会有不同的临床特征和预后。修订后的欧美淋巴瘤（REAL）分类强调，了解该过程的原发部位对不寻常肿瘤具有很高的诊断价值。主要位于腹膜后的弥漫性大B细胞淋巴瘤（PRLBCL）是偶尔报道的主题。^[1,2]腹膜后间隙较大，嵌在疏松结缔组织的网状结构中，使原发性和转移性肿瘤在临床症状出现前都能无声生长，因此腹膜后的肿瘤往往体积庞大。很难与腹膜后淋巴瘤、胃肠道间质瘤和神经纤维瘤等实体瘤鉴别。^[3]本研究对我院PRLBCLs进行回顾性分析，以更好地了解本病并总结经验。

致编辑：面肩肱型肌营养不良2型（FSHD2）是一种表观遗传肌病，由编码染色质调节因子的基因变异引起，例如SMCHD1：这些变体导致D4Z4编码的去抑制DUX4骨骼肌中的逆转录基因。^[1]FSHD的核心表型是面部、肩带和上肢等身体部位的进行性肌肉无力。此外，FSHD可能会影响中轴肌并产生脊柱弯曲综合征。几项研究报道FSHD2与致病变异相关SMCHD1,^[1,2]但据我们所知，尚未有中国FSHD2患者的报道。在本报告中，我们提出了一个D4Z4低甲基化的中国FSHD2家族，并在SMCHD1本研究经福建医科大学第一附属医院医学研究伦理委员会批准（2016[17]号）。从每位参与者和18岁以下参与者的父母处获得知情同意。

致编辑：58岁男性，2019年6月诊断为慢性粒单核细胞白血病，经5个疗程化疗（地西他滨35 mg，第1-5天）后骨髓完全缓解。2019年12月，他接受了人类白细胞抗原单倍体相合女儿的异基因造血干细胞移植（allo-HSCT）。供体和宿主移植前EB病毒（EBV）血清学均为阴性。清髓性预处理方案采用阿糖胞苷、白消安、环磷酰胺、甲基-N-（2-氯乙基）-N-环己基-N-亚硝基脲和抗胸腺细胞球蛋白。单个核细胞和CD34+细胞数分别为12.23 × 10⁸/kg和7.57 × 10⁸/kg。移植物抗宿主病（GVHD）预防包括环孢素A（CSA）和霉酚酸酯（MMF）。由于第+15天的胃肠道反应，CSA随后改为他克莫司。患者有结核病（TB）病史，接受异烟肼和利福喷丁预防。中性粒细胞和血小板植入分别发生在第+12天和第+18天。细胞遗传学研究显示在第+26天完全供体嵌合。

致编辑：马拉色菌位于特应性皮炎(AD)患者皮肤中可能与其发病机制有关，包括球形马拉色菌和限制性马拉色菌作为优势种。^[1]然而，具体的分子机制马拉色菌AD患者的宿主免疫细胞仍不清楚。在我们的研究中，Affymetrix Human Prime View阵列用于检测球形分枝杆菌对AD患者外周血单核细胞（PBMCs）基因表达的研究，有利于进一步了解AD患者外周血单核细胞（PBMCs）的基因表达马拉色菌AD发病机制中的定植。

致编辑：弓形虫是一种广泛存在的apicomplexan寄生虫，几乎可以感染所有温血脊椎动物。^[1]发达国家和发展中国家22%至84%的人口长期感染弓形虫由于使用动物模型的伦理问题体内培养，已经使用了细胞培养系统。生产弓形虫速殖子体外是必不可少的弓形虫调查。探索植物的培养条件具有重要意义体外弓形虫用于深入研究真核生物的代谢机制。

致编辑：肾细胞癌（RCC）约占成人所有恶性肿瘤的3%。^[1]局部晚期RCC具有相对不同的不良预后，治疗性手术后5年癌症特异性生存率（CSS）范围为28%至67%。^[2]对局部晚期肾细胞癌的疾病复发风险进行准确分层是很重要的。已经开发了几种预后模型，如分期、大小、分级和坏死（SSIGN）、Leibovich、Cindolo、Yaycioglu、纪念斯隆凯特琳癌症中心（MSKCC）、Kattan和Karakiewicz来预测局限性RCC的预后，并且发现一致性指数（C指数）在0.65至0.84的范围内。^[3,4]据我们所知，这些模型主要是基于RCC低风险患者的数据开发的。在包括中度或高风险RCC患者的外部前瞻性队列中，发现这些模型的性能急剧下降（C指数范围为0.587至0.69）。^[4]因此，在这项研究中，我们旨在开发一个更准确的预后模型，以便更好地对局部晚期肾细胞癌进行风险分层。

致编辑：结节性筋膜炎（NF）被描述为一种快速生长的良性软组织肿瘤，伴有成纤维细胞/肌成纤维细胞增殖。^[1]它通常累及20至40岁成年人的上肢。^[1]由于其快速的生长速度、高细胞性和活跃的有丝分裂，这些病变在诊断过程中很容易与软组织肉瘤混淆。最近的发现表明泛素特异性蛋白酶6（USP6），位于17p13.2，有利于NF的克隆增殖性质。^[1]USP6在大约90%的NF病例和>65%的NFs中发现了重排，含有肌球蛋白重链9（MYH9)-USP6具有I型（外显子1-外显子1）或II型（外显子1-外显子2）模式的融合。^[1,2]因此，USP6重排已被用作有价值的诊断生物标志物，用于将挑战性病例与其组织学模拟物区分开来。NF常见于成人，但在婴儿中极为罕见。在这里，我们评估了婴儿NF的临床、病理和遗传特征，以了解该实体背后的肿瘤发生机制。

致编辑：视神经炎（ON）通常以一次发作结束，但3%~5%的患者会复发。在复发患者中，多发性硬化或视神经脊髓炎(NMO)检查呈阴性的患者被诊断为慢性复发性炎性视神经病变(CRION)。这个疾病群，首先由基德命名等人,^[1]是指停用类固醇或免疫抑制剂后，两侧炎性视神经炎症反复发生并加重的临床情况。早期诊断在该组中很重要，因为失明的风险很大，因此，治疗的重点是保护视力。然而，由于大量CRION患者患有眼部疼痛，因此不应忽视疼痛的缓解。