2017年 · 第130卷第05期

Extracorporeal membrane oxygenation (ECMO) is a type of extracorporeal life support (ECLS), and technological advances have expanded the use of this technique from the confines of the operating room by producing a compact system that could revolutionize the treatment of different types of respiratory failure.^[1]The use of ECMO for severe acute respiratory failure (ARF) has evolved over the past two decades, and venovenous-ECMO (VV-ECMO) has been found to be safe and successful, especially during the H1N1 influenza epidemic, with good survival rates. ECMO has been used as salvage or rescue therapy for acute respiratory distress syndrome (ARDS) by providing oxygenation, CO₂removal, or both. It is not curative for ARDS and is used mainly as a bridge until the lungs recover from the underlying disease or as a bridge to lung transplantation for severe irreversible lung diseases.

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.

High-risk population of Type 2 diabetes mellitus (T2DM) includes both euglycemic (normal glucose tolerance [NGT]) population with high risk of diabetes (EPWHROD) and prediabetic population. Between these two groups, prediabetic people have a higher chance to develop diabetes. Prediabetes is associated with increased risk of atherosclerotic cerebrocardiovascular disease (ASCCVD), diabetes, microangiopathic diseases, tumors, and dementia.

Lung cancer is the leading cause for cancer-related deaths in both genders throughout the world. In the United States alone, there were 224,390 estimated new lung cancer cases and 158,080 estimated deaths in 2016.^[1]As conventional chemotherapy has reached a plateau of effectiveness in lung cancers and fails in those tumors whose growth and metabolism can hardly be distinguished from normal tissues, innovative therapeutic strategies have been explored. The use of novel agents, for example, immunotherapies, has started to show promising potential in the field.

Lymphedema is a chronic, debilitating disorder characterized by abnormal tissue swelling, adipose deposition, tissue fibrosis, and edema resulting from disruption, blockage, or genetic abnormalities of the lymphatic system.^[1]It arises most commonly as a consequence of cancer or the treatments of cancer. Upper extremity lymphedema is commonly associated with the treatment of breast cancer. Lower extremity lymphedema is seen in patients who have been treated for gynecologic malignancy and prostate cancer, as well as melanoma and lymphoma.^[2,3]The damage of the lymph circulation results in an overload of lymph fluid that accumulates in the subcutaneous space, causing increased limb weight, decreased limb function, increased infection risk, decreased quality of life, and interference with body appearance.^[4]

Pheochromocytoma is a rare catecholamine-producing tumor with the primary presentations, both of intermittent fever and nonoliguric acute renal failure. Only several articles were retrieved with the rare presentation of fever. However, no case characterized by both of fever and acute renal failure has been retrieved.

Cerebral cavernous malformation (CCM), also known as cavernous angioma, is a type of vascular malformation in the central nervous system. To date, rare cases of CCM and seizure have been reported in pregnancies. Nowadays, the management of such condition in pregnancy is still a challenge due to lacking of experiences. We presented a case of pregnant woman with CCM combined with epilepsy and cerebral cavernous hemangioma.

To the Editor: A 17-year-old Chinese male patient without any medical history presented to The First Affiliated Hospital of Nanchang University. His initial symptoms were abdominal pain and progressive edema. The pain presented initially around umbilical area and then progressed to left upper quadrant of the abdomen. His physical examination revealed that he had mild edema of the face and legs, direct tenderness of the left upper abdomen, without rebound tenderness. His blood pressure level was 110/75 mmHg. His heart and lungs were normal. Except spleen, no organs or lymph node enlargement was found. His laboratory investigations were as follows: urinary protein, 3+; hematuria, −; 24-h urinary protein, 4.8 g/day; liver and renal function were normal; albumin, 14.9 g/L; total cholesterol, 6.21 mmol/L; triglycerides, 3.77 mmol/L; hemoglobin, 154 g/L; white blood cell count, 7.8 × 10⁹/L; red blood cell count, 5.15 × 10¹²/L; platelets, 565 × 10⁹/L; fibrinogen, 6.2 g/L, antinuclear antibody-negative; anti-double-stranded DNA antibody-negative; thyroid function was normal; hepatitis B surface antigen-negative; and anti-hepatitis C virus-negative. The abdominal computed tomography scan disclosed that spleen was enlargement, uneven density. Abundant hypodensity shadow was found in spleen [Figure 1], which indicated splenic infarction. The infarction area was over 80% of the whole spleen. After 1 week of anticoagulation therapy, he was discharged with complete resolution of abdominal pain. At that time, a percutaneous renal biopsy was performed for the patient. The glomeruli showed an almost normal appearance under light microscopy. The mesangium was mild proliferated. The basement membranes were extensive vacuolar degeneration. Renal tubular epithelial cells were vacuolar and granular degeneration. Renal interstitium and vessels were unremarkable. Immunofluorescence microscopy revealed an absence of deposits of immunoglobulin, complements, and fibrinogen. By electron microscopy, we found that foot processes of podocyte were diffuse fusion, and no electron deposits were observed. With a diagnosis of minimal change disease, an "adequacy" dose steroid regimen (prednisolone 60 mg/d) was administered orally. After the treatment of prednisone, the patient’s edema remitted slowly. By the 17^thday of therapy, his serum albumin increased to 40.5 g/L, proteinuria turned to negative. The dosage of oral prednisone was tapered gradually over the next months. After continuous treatment, his nephritic syndrome resolved completely and no signs of relapse were noted during 18 months of follow-up period.

To the Editor: Extra medullary infiltration is often seen in acute myeloid leukemia (AML). Many take the form of tumor masses as myeloid sarcoma. However, leukemic cell infiltration of the appendix is rare. Herein, we report a case of AML initially presented as acute nonsuppurative appendicitis due to leukemic cell infiltration which is a rarer manifestation ofde novoAML.

To the Editor: Neurolymphomatosis (NL) is a clinical disorder that presents with peripheral neuropathy due to lymphomatous infiltration of the nerves. NL is generally associated with B-cell lymphomas, and T-cell lymphoma is extremely rare. Nasal type extranodal natural killer (NK)/T-cell lymphoma (ENKL) is a rare lymphoma associated with Epstein-Barr virus (EBV), which is more common in East Asia than in the West.^[1]Central nervous system (CNS) lesions are occasionally observed as sites of ENKL involvement, and extranodal involvement often leads to an unfavorable prognosis.^[2,3]Here, a rare case of NL associated with ENKL that mainly presented as progressive multiplex painful mononeuropathy with multiple white matter lesions is reported.

To the Editor: A patient presented with oral mucosa, ulcerated pain, and limitation of mouth opening from January 2016. Local doctors diagnosed him with oral ulcer and prescribed courses of related medicine which did not relieve symptoms. Frozen section of oral mucosa (March 31, 2016) showed granulomatous reaction [Figure 1]. He was referred to our hospital.

To the Editor: Neurofibromatosis type 1 (NF1) is a common autosomal dominant genetic neurocutaneous disorder mainly characterized by café-au-lait macules (CALMs), neurofibromas, skinfold freckling, and Lisch nodules.^[1]Mutations in the neurofibromin 1 gene (NF1) are known to solely result in NF1.^[1]Most NF1 patients with mutations inNF1are sporadic cases; the mean proportion of familial ones is approximately 31.8% with a range from 13.0% to 45.8%.^[2,3,4]The mutation analysis ofNF1remains difficult due to the large size and complexity of the gene.^[5]The direct DNA sequence analysis is a conclusive approach to establishing the molecular diagnosis of NF1. Here, we report a novel frameshift mutation inNF1gene in a Chinese nuclear family with NF1.