Volume 130 · Issue 05 · 2017

体外膜肺氧合（ECMO）是体外生命支持（ECLS）的一种，技术进步通过产生一种紧凑的系统，将该技术的使用从手术室的范围扩大到了可以彻底改变不同类型呼吸衰竭的治疗的范围。^[1]在过去的二十年里，使用ECMO治疗严重急性呼吸衰竭（ARF）已经发展，静脉-静脉-ECMO（VV-ECMO）已被发现是安全和成功的，尤其是在H1N1流感流行期间，具有良好的生存率。ECMO已被用作急性呼吸窘迫综合征(ARDS)的抢救或抢救治疗，通过提供氧合、CO₂移除，或两者兼而有之。它不能治愈ARDS，主要用作桥梁，直到肺部从潜在疾病中恢复，或作为严重不可逆肺部疾病的肺移植的桥梁。

Obesity has an adverse effect on iron status. Hepcidin-mediated inhibition of iron absorption in the duodenum is a potential mechanism. Iron-deficient obese patients have diminished response to oral iron therapy. This study was designed to assess whether acupuncture could promote the efficacy of oral iron supplementation for the treatment of obesity-related iron deficiency (ID).

Sixty ID or ID anemia (IDA) patients with obesity were screened at Beijing Hospital of Traditional Chinese Medicine and were randomly allocated to receive either oral iron replacement allied with acupuncture weight loss treatment (acupuncture group, n = 30) or oral iron combined with sham-acupuncture treatment (control group, n = 30). Anthropometric parameters were measured and blood samples were tested pre- and post-treatment. Differences in the treatment outcomes of ID/IDA were compared between the two groups.

After 8 weeks of acupuncture treatment, there was a significant decrease in body weight, body mass index, waist circumference, and waist/hip circumference ratio of patients in the acupuncture group, while no significant changes were observed in the control group. Oral iron supplementation brought more obvious improvements of iron status indicators including absolute increases in serum iron (11.08 ± 2.19 μmol/L vs. 4.43 ± 0.47 μmol/L), transferrin saturation (11.26 ± 1.65% vs. 1.01 ± 0.23%), and hemoglobin (31.47 ± 1.19 g/L vs. 21.00 ± 2.69 g/L) in the acupuncture group than control group (all P < 0.05). Meanwhile, serum leptin (2.26 ± 0.45 ng/ml vs. 8.13 ± 0.55 ng/ml, P < 0.05) and hepcidin (3.52 ± 1.23 ng/ml vs. 6.77 ± 0.84 ng/ml, P < 0.05) concentrations declined significantly in the acupuncture group than those in the control group.

Acupuncture-based weight loss can enhance the therapeutic effects of iron replacement therapy for obesity-related ID/IDA through improving intestinal iron absorption, probably by downregulating the systemic leptin-hepcidin levels.

Currently, transcatheter closure of perimembranous ventricular septal defect (pmVSD) is a widely accepted therapeutic modality. However, arrhythmias, especially postprocedural heart blocks, are a concern and outcomes are not very clear. This study explored the outcomes and risk factors of arrhythmias associated with transcatheter device closure of pmVSD.

A total of 395 patients diagnosed with pmVSD who successfully underwent transcatheter intervention between January 2010 and December 2015 in our center were retrospectively reviewed. Electrocardiographic data before and after the procedure were collected and analyzed. We first evaluated the potential risk factors including gender, age, weight, inlet and outlet diameters of defect, subaortic rim length, occluder size, corrected occluder size into body surface area, fluoroscopy time, presence of aneurysm, and deployment position. We compared the potential risk factors between arrhythmia and nonarrhythmia groups using univariate analysis, followed by logistic analysis for independent risk factors.

Various arrhythmias were detected in 95 cases (24.1%) following transcatheter closure procedure. Logistic regression analysis revealed that eccentric (odds ratio [OR] 2.9, 95% confidence interval [CI]: 1.2–7.2) and large occluders (OR 2.0, 95% CI: 1.6–2.5), as well as long fluoroscopy time (OR 1.1, 95% CI: 1.1–1.2), were correlated with postprocedural arrhythmia. During 35.5 months (range: 9–80 months) of follow-up, most of the patients (74 out of 95) reverted to normal heart rhythm.

The mid-term outcome of patients with arrhythmias after transcatheter closure of pmVSD was satisfactory as most of the patients recovered normal rhythm. Eccentric, large device and long fluoroscopy time increase the risk of arrhythmias after transcatheter closure of pmVSD.

The addition of anti-human epidermal growth factor receptor 2 (HER2)-targeted drugs, such as trastuzumab, lapatinib, and trastuzumab emtansine (T-DM1), to chemotherapy significantly improved prognosis of HER2-positive breast cancer patients. However, it was confused that metastatic patients vary in the response of targeted drug. Therefore, methods of accurately predicting drug response were really needed. To overcome the spatial and temporal limitations of biopsies, we aimed to develop a more sensitive and less invasive method of detecting mutations associated with anti-HER2 therapeutic response through circulating-free DNA (cfDNA).

From March 6, 2014 to December 10, 2014, 24 plasma samples from 20 patients with HER2-positive metastatic breast cancer who received systemic therapy were eligible. We used a panel for detection of hot-spot mutations from 50 oncogenes and tumor suppressor genes, and then used targeted next-generation sequencing (NGS) to identify somatic mutation of these samples in those 50 genes. Samples taken before their first trastuzumab administration and subsequently proven with clinical benefit were grouped into sensitive group. The others were collected after disease progression of the trastuzumab-based therapy and were grouped into the resistant group.

A total of 486 single-nucleotide variants from 46 genes were detected. Of these 46 genes, phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA), proto-oncogene c-Kit (KIT), and tumor protein p53 (TP53) were the most common mutated genes. Seven genes, including epidermal growth factor receptor (EGFR), G protein subunit alpha S (GNAS), HRas proto-oncogene (HRAS), mutL homolog 1 (MLH1), cadherin 1 (CDH1), neuroblastoma RAS viral oncogene homolog (NRAS), and NOTCH1, that only occurred mutations in the resistant group were associated with the resistance of targeted therapy. In addition, we detected a HER2 S855I mutation in two patients who had persistent benefits from anti-HER2 therapy.

Targeted NGS of cfDNA has potential clinical utility to detect biomarkers from HER2-targeted therapies.

Acute abdominal pain is a common symptom of emergency patients. The severity was always evaluated based on physicians' clinical experience. The aim of this study was to establish an early risk stratification method (ERSM) for addressing adults with acute abdominal pain, which would guide physicians to take appropriate and timely measures following the established health-care policies.

In Cohort 1, the records of 490 patients with acute abdominal pain that developed within the past 72 h were enrolled in this study. Measurement data and numeration data were compared with analysis of variance and Chi-square test, respectively. Multiple regression analysis calculated odd ratio (OR) value. P and OR values showed the impacts of factors. ERSM was established by clinical experts and statistical experts according to Youden index. In Cohort 2, data from 305 patients with acute abdominal pain were enrolled to validate the accuracy of the ERSM. Then, ERSM was prospectively used in clinical practice.

The ERSM was established based on the scores of the patient’s clinical characteristics: right lower abdominal pain+ 3 × diffuse abdominal pain+ 3 × cutting abdominal pain+ 3 × pain frequency + 3 × pain duration+ fever + 2 × vomiting + 5 × stop defecation+ 3 × history of abdominal surgery + hypertension history + diabetes history + hyperlipidemia history + pulse + 2 × skin yellowing + 2 × sclera yellowing + 2 × double lung rale + 10 × unconsciousness + 2 × right lower abdominal tenderness + 5 × diffuse abdominal tenderness + 4 × peritoneal irritation + 4 × bowel sounds abnormal+ 10 × suspicious diagnosis + white blood cell count + hematocrit + glucose + 2 × blood urea nitrogen+ 3 × creatine + 4 × serum albumin + alanine aminotransferase + total bilirubin + 3 × conjugated bilirubin + amylase. When the score was <18, the patient did not need hospitalization. A score of ≥18 and <38 indicated that the patient should be under observation or hospitalized. A score of ≥38 and <50 indicated the need for an emergent operation. A score of ≥50 indicated the need for admission to the Intensive Care Unit. The area under the receiver operating characteristic curve of the ERSM in Cohorts 1 and 2 were 0.979 and 0.988, respectively.

This ERSM was an accurate and reliable method for making an early determination of the severity of acute abdominal pain. There was the strong correlation between scores of ERSM and health-care decision-making.

Discoid lateral meniscus was a common meniscal dysplasia and was predisposed to tear. There were some anatomical knee variants in patients with discoid lateral meniscus. The aim of this study was to analyze the relationship between anatomical knee variants and discoid lateral meniscal tears.

There were totally 125 cases of discoid lateral meniscus enrolled in this study from February 2008 to December 2013. Eighty-seven patients who underwent arthroscopic surgery for right torn discoid lateral meniscus were enrolled in the torn group. An additional 38 patients who were incidentally identified as having intact discoid lateral menisci on magnetic resonance imaging (MRI) findings were included in the control group. All patients were evaluated for anatomical knee variants on plain radiographs, including lateral joint space distance, height of the lateral tibial spine, height of the fibular head, obliquity of the lateral tibial plateau, squaring of the lateral femoral condyle, cupping of the lateral tibial plateau, lateral femoral condylar notch, and condylar cutoff sign. The relationship between anatomical variants and meniscal tear was evaluated. These anatomical variants in cases with complete discoid meniscus were also compared with those in cases with incomplete discoid meniscus.

There were no significant differences between the two groups in lateral joint space distance (P = 0.528), height of the lateral tibial spine (P = 0.927), height of the fibular head (P = 0.684), obliquity of the lateral tibial plateau (P = 0.672), and the positive rates of squaring of the lateral femoral condyle (P = 0.665), cupping of the lateral tibial plateau (P = 0.239), and lateral femoral condylar notch (P = 0.624). The condylar cutoff sign was significantly different between the two groups, with the prominence ratio in the torn group being smaller than that in the control group (0.74 ± 0.11 vs. 0.81 ± 0.04, P = 0.049). With the decision value of the prominence ratio (0.78) in predicting discoid lateral meniscal tear, the sensitivity and specificity of the cutoff sign were 66% and 71%, respectively. There were no significant differences in radiographic variants between the complete and incomplete discoid lateral meniscal groups.

The condylar cutoff sign observed on the tunnel view of the radiograph is helpful in predicting meniscal tear in adult patients with discoid lateral meniscus. As for these patients, further MRI test is recommended.

While depression and certain cardiac biomarkers are associated with acute myocardial infarction (AMI), the relationship between them remains largely unexplored. We examined the association between depressive symptoms and biomarkers in patients with AMI.

We performed a cross-sectional study using data from 103 patients with AMI between March 2013 and September 2014. The levels of depression, N-terminal proB-type natriuretic peptide (NT-proBNP), and troponin I (TnI) were measured at baseline. The patients were divided into two groups: those with depressive symptoms and those without depressive symptoms according to Zung Self-rating Depression Scale (SDS) score. Baseline comparisons between two groups were made using Student’s t-test for continuous variables, Chi-square or Fisher’s exact test for categorical variables, and Wilcoxon test for variables in skewed distribution. Binomial logistic regression and multivariate linear regression were performed to assess the association between depressive symptoms and biomarkers while adjusting for demographic and clinical variables.

Patients with depressive symptoms had significantly higher NT-proBNP levels as compared to patients without depressive symptoms (1135.0 [131.5, 2474.0] vs. 384.0 [133.0, 990.0], Z = −2.470, P = 0.013). Depressive symptoms were associated with higher NT-proBNP levels (odds ratio [OR] = 2.348, 95% CI: 1.344 to 4.103, P = 0.003) and higher body mass index (OR = 1.169, 95% confidence interval [CI]: 1.016 to 1.345, P = 0.029). The total SDS score was associated with the NT-proBNP level (β = 0.327, 95% CI: 1.674 to 6.119, P = 0.001) after multivariable adjustment. In particular, NT-proBNP was associated with three of the depressive dimensions, including core depression (β = 0.299, 95% CI: 0.551 to 2.428, P = 0.002), cognitive depression (β = 0.320, 95% CI: 0.476 to 1.811, P = 0.001), and somatic depression (β = 0.333, 95% CI: 0.240 to 0.847, P = 0.001). Neither the overall depressive symptomatology nor the individual depressive dimensions were associated with TnI levels.

Depressive symptoms, especially core depression, cognitive depression, and somatic depression, were related to high NT-proBNP levels in patients with AMI.

Accumulating evidence indicates that attention deficit hyperactivity disorder (ADHD) is associated with core deficits in executive function (EF) which predicts poorer academic and occupational functioning. This makes early intervention targeting EF impairments important to prevent long-term negative outcomes. Cognitive training is a potential ADHD treatment target. The present study aimed to explore the efficacy, feasibility, and acceptability of a cognitive training program (targeting child’s multiple EF components and involving parent support in daily life), as a nonpharmacological intervention for children with ADHD.

Forty-four school-age children with ADHD and their parents participated in 12 sessions of EF training (last for 12 weeks) and 88 health controls (HC) were also recruited. Training effects were explored using both neuropsychological tests (Stroop color-word test, Rey-Osterrieth complex figure test, trail making test, tower of Hanoi, and false-belief task) and reports of daily life (ADHD rating scale-IV, Conners’ parent rating scale, and behavior rating inventory of executive function [BRIEF]) by analysis of paired sample t-test and Wilcoxon signed-rank test. The differences on EF performances between children with ADHD after training and HC were explored using multivariate analysis.

The results (before vs. after EF training) showed that after intervention, the children with ADHD presented better performances of EF both in neuropsychological tests (word interference of Stroop: 36.1 ± 14.6 vs. 27.1 ± 11.1, t = 4.731, P < 0.001; shift time of TMT: 194.9 ± 115.4 vs. 124.8 ± 72.4, Z = –4.639, P < 0.001; false-belief task: χ² = 6.932, P = 0.008) and reports of daily life (global executive composite of BRIEF: 148.9 ± 17.5 vs. 127.8 ± 17.5, t = 6.433, P < 0.001). The performances on EF tasks for children with ADHD after EF training could match with the level of HC children. The ADHD symptoms (ADHD rating scale total score: 32.4 ± 8.9 vs. 22.9 ± 8.2, t = 6.331, P < 0.001) and behavioral problems of the children as reported by parents also reduced significantly after the intervention. Participants reported that the EF training program was feasible to administer and acceptable.

The EF training program was feasible and acceptable to children with ADHD and parents. Although replication with a larger sample and an active control group are needed, EF training program with multiple EF focus and parent involving in real-life activities could be a potentially promising intervention associated with significant EF (near transfer) and ADHD symptoms improvement (far transfer).

Hepatitis B surface antigen (HBsAg) loss/seroconversion is considered to be the ideal endpoint of antiviral therapy and the ultimate treatment goal in chronic hepatitis B (CHB). This study aimed to assess the patterns of HBsAg kinetics in CHB patients who achieved HBsAg loss during the treatment of pegylated interferon (PEG-IFN) α-2a.

A total of 150 patients were enrolled, composing of 83 hepatitis B envelope antigen (HBeAg)-positive and 67 HBeAg-negative patients. Patients were treated with PEG-IFN α-2a180 μg/week until HBsAg loss/seroconversion was achieved, which occurred within 96 weeks. Serum hepatitis B virus deoxyribonucleic acid and serological indicators (HBsAg, anti-HBs, HBeAg, and anti-HBe) were determined before and every 3 months during PEG-IFN α-2a treatment. Biochemical markers and peripheral blood neutrophil and platelet counts were tested every 1–3 months.

Baseline HBsAg levels were 2.5 ± 1.3 log IU/ml, and decreased rapidly at 12 and 24 weeks by 48.3% and 88.3%, respectively. The mean time to HBsAg loss was 54.2 ± 30.4 weeks, though most patients needed extended treatment and 30.0% of HBsAg loss occurred during 72–96 weeks. Baseline HBsAg levels were significantly higher in HBeAg-positive patients (2.9 ± 1.1 log IU/ml) compared with HBeAg-negative patients (2.0 ± 1.3 log IU/ml; t = 4.733, P < 0.001), but the HBsAg kinetics were similar. Patients who achieved HBsAg loss within 48 weeks had significantly lower baseline HBsAg levels and had more rapid decline of HBsAg at 12 weeks compared to patients who needed extended treatment to achieve HBsAg loss.

Patients with lower baseline HBsAg levels and more rapid decline during early treatment with PEG-IFN are more likely to achieve HBsAg loss during 96 weeks of treatment, and extended therapy longer than 48 weeks may be required to achieve HBsAg loss.

At present, a diagnostic tool with high specificity for impaired endometrial receptivity, which may lead to implantation failure, remains to be developed. We aimed to assess the different endometrial microRNA (miRNA) signatures for impaired endometrial receptivity by microarray analysis.

A total of 12 repeated implantation failure (RIF) patients and 10 infertile patients, who conceived and delivered after one embryo transfer attempt, were recruited as RIF and control groups, respectively. Endometrial specimens from the window of implantation (WOI) were collected from these two groups. MiRNA microarray was conducted on seven and five samples from the RIF and control groups, respectively. Comparative, functional, and network analyses were performed for the microarray results. Quantitative real-time polymerase chain reaction (PCR) was performed on other samples to validate the expression of specific miRNAs.

Compared with those in the control group, the expression levels of 105 miRNAs in the RIF group were found to be significantly up- or down-regulated (at least 2-fold) by microarray analysis. The most relevant miRNA functional sets of these dysregulated miRNAs were miR-30 family, human embryonic stem cell regulation, epithelial-mesenchymal transition, and miRNA tumor suppressors by tool for annotations of microRNA analysis. Network regulatory analysis found 176 miRNA-mRNA interactions, and the top 3 core miRNAs were has-miR-4668-5p, has-miR-429, and has-miR-5088. Expression levels of the 18 selected miRNAs in new samples by real-time PCR were found to be regulated with the same trend, as the result of microarray analysis.

There is a significant different expression of certain miRNAs in the WOI endometrium for RIF patients. These miRNAs may contribute to impaired endometrial receptivity.

Right dominant heart (RDH) in fetuses can occur with a number of cardiac as well as noncardiac anomalies. Analysis of the enlargement of the right cardiac chamber in the fetus remains a major challenge for sonographers and echocardiographers. The aim of this study was to report the experience with prenatal diagnosis of RDH in the fetuses over a 7-year period.

Fetuses with prenatal diagnosis of RDH from July 2009 to July 2016 were evaluated in two different categories: according to the gestational age, Group I (n = 154, second trimester) and Group II (n = 298, third trimester); and according to the fetal echocardiography diagnosis, Group A (n = 452, abnormal cardiac structure) and Group B (n = 90, normal cardiac structure). Differences in categorical variables were assessed by Chi-square exact test and continuous variables were evaluated by independent Student’s t-test or Mann–Whitney U-test depending on parametric or nonparametric nature of the data.

Over a 7-year period, 452 fetuses were referred for the assessment of suspected RDH. Left-sided obstructive lesions were observed most frequently in the fetuses with RDH. When comparing Group I with Group II and Group A with Group B, the latter groups exhibited significant differences in the right/left ventricle (RV/LV) ratio (1.435 vs. 1.236, P = 0.002; 1.309 vs. 1.168, P = 0.047), RV width Z-score (1.626 vs. 1.104, P < 0.001; 1.553 vs. 0.814, P = 0.014), and above +2 cutoff percentages (14.3% vs. 22.5%; P = 0.038; 21.5% vs. 12.2%, P = 0.046). Multivariable logistic regression revealed no variables associated with perinatal survival.

The study demonstrates that RDH warrants careful attention to the possible presence of a structural cardiac anomaly, especially left-sided obstructive lesions. A diagnosis of RDH is best supported by a combination of the RV Z-score and RV/LV ratio. Most of the fetuses with RDH and structurally normal hearts had favorable outcomes.

2型糖尿病(T2DM)的高风险人群包括具有糖尿病高风险(EPWHROD)的正常血糖(正常葡萄糖耐量[NGT])人群和糖尿病前期人群。在这两个群体中，糖尿病前期人群患糖尿病的几率更高。糖尿病前期与动脉粥样硬化性脑心血管疾病（ASCCVD）、糖尿病、微血管病变、肿瘤和痴呆的风险增加相关。

肺癌是全世界男女癌症相关死亡的主要原因。仅在美国，2016年估计有224,390例新肺癌病例和158,080例死亡。^[1]由于常规化疗在肺癌中已经达到了有效性的平台期，并且在那些生长和代谢几乎不能与正常组织区分的肿瘤中失败，因此已经探索了创新的治疗策略。新试剂的使用，例如免疫疗法，已经开始在该领域显示出有希望的潜力。

淋巴水肿是一种慢性衰弱性疾病，其特征是由淋巴系统的破坏、阻塞或遗传异常引起的异常组织肿胀、脂肪沉积、组织纤维化和水肿。^[1]它最常见的是癌症或癌症治疗的结果。上肢淋巴水肿通常与乳腺癌的治疗有关。下肢淋巴水肿见于接受过妇科恶性肿瘤和前列腺癌以及黑色素瘤和淋巴瘤治疗的患者。^[2,3]淋巴循环的损害导致积聚在皮下空间的淋巴液超载，导致肢体重量增加、肢体功能下降、感染风险增加、生活质量下降和对身体外观的干扰。^[4]

嗜铬细胞瘤是一种罕见的产生儿茶酚胺的肿瘤，主要表现为间歇性发热和非少尿性急性肾衰竭。仅检索到几篇罕见表现为发热的文章。然而，尚未检索到以发热和急性肾衰竭为特征的病例。

脑海绵状畸形（Cerebral cavernous malformation，CCM）又称海绵状血管瘤，是中枢神经系统血管畸形的一种。迄今为止，在妊娠中报告了罕见的CCM和癫痫发作病例。如今，由于缺乏经验，妊娠期这种情况的管理仍然是一个挑战。我们报告了一例患有CCM合并癫痫和脑海绵状血管瘤的孕妇。

致编者：一名无任何病史的17岁中国男性患者，到南昌大学第一附属医院就诊。他最初的症状是腹痛和进行性水肿。疼痛最初出现在脐部周围，然后发展到腹部左上象限。体检发现面部、腿部轻度水肿，左上腹直接压痛，无反跳性压痛。他的血压水平为110/75 mmHg。他的心脏和肺正常。除脾脏外，未发现脏器或淋巴结肿大。他的实验室检查如下：尿蛋白，3+；血尿，−；24h尿蛋白，4.8 g/天；肝、肾功能正常；白蛋白，14.9 g/L；总胆固醇，6.21 mmol/L；甘油三酯，3.77 mmol/L；血红蛋白，154g/L；白细胞计数，7.8 × 10⁹/L；红细胞计数，5.15 × 10¹²/L；血小板，565 × 10⁹/L；纤维蛋白原，6.2 g/L，抗核抗体阴性；抗双链DNA抗体阴性；甲状腺功能正常；乙型肝炎表面抗原阴性；和抗丙型肝炎病毒阴性。腹部计算机断层扫描显示脾脏肿大，密度不均匀。脾内见丰富的低密度影[图1]，提示脾梗死。梗塞面积占整个脾脏的80%以上。抗凝治疗1周后，腹痛完全缓解出院。当时，对患者进行了经皮肾活检。肾小球在光学显微镜下显示几乎正常的外观。系膜轻度增生。基底膜广泛空泡变性。肾小管上皮细胞呈空泡状、颗粒状变性。肾间质和血管不明显。免疫荧光显微镜检查显示没有免疫球蛋白、补体和纤维蛋白原的沉积。电镜观察，足细胞足突呈弥漫性融合，未见电子沉积。在诊断为微小变化疾病的情况下，口服“足够”剂量的类固醇方案（泼尼松龙60 mg/d）。强的松治疗后，患者水肿慢慢缓解。到17岁^th治疗日，血清白蛋白升至40.5 g/L，蛋白尿转阴。在接下来的几个月里，口服泼尼松的剂量逐渐减少。经过持续治疗，他的肾病综合征完全消退，在18个月的随访期间没有发现复发的迹象。

致编者：髓外浸润常见于急性髓系白血病（AML）。许多以骨髓肉瘤的形式出现肿瘤块。然而，阑尾的白血病细胞浸润是罕见的。在此，我们报告了一例最初表现为急性非化脓性阑尾炎的AML病例，由于白血病细胞浸润，这是一种更罕见的表现再一次反洗钱。

编者：神经淋巴瘤病(NL)是一种由于神经淋巴瘤浸润而表现为周围神经病变的临床疾病。NL通常与B细胞淋巴瘤相关，T细胞淋巴瘤极为罕见。鼻型结外自然杀伤（NK）/T细胞淋巴瘤（ENKL）是一种罕见的与EB病毒（EBV）相关的淋巴瘤，在东亚比在西方更常见。^[1]中枢神经系统（CNS）病变偶尔被观察为ENKL受累的部位，结外受累通常导致不利的预后。^[2,3]在此，报告了一例罕见的与ENKL相关的NL病例，主要表现为进行性多发性疼痛性单神经病伴多发性白质病变。

致编者：一名患者于2016年1月出现口腔粘膜、溃疡性疼痛和张口受限。当地医生诊断他患有口腔溃疡，并开了几个疗程的相关药物，但没有缓解症状。口腔黏膜冰冻切片（2016.3.31）显示肉芽肿反应[图1].他被转诊到我们医院。

致编者：1型神经纤维瘤病（NF1）是一种常见的常染色体显性遗传性神经皮肤疾病，主要特征为café-au-lait macules（CALMs）、神经纤维瘤、皮褶雀斑和Lisch结节。^[1]神经纤维蛋白1基因突变（NF1)仅导致NF1。^[1]大多数NF1患者在NF1是散发病例；家族性的平均比例约为31.8%，范围为13.0%至45.8%。^[2,3,4]的突变分析NF1由于基因的大尺寸和复杂性，仍然很困难。^[5]直接DNA序列分析是建立NF1分子诊断的决定性方法。在这里，我们报道了一种新的移码突变NF1一个中国NF1核心家系的基因。