MedNexus
2018年 · 第131卷第24期
出版日期 2018-12-20电子版 ￥0.00元
MedNexus
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- Original Article
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Editorial
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无创性脑刺激在阿尔茨海默病治疗中的应用现状Yi-Cong Lin, Yu-Ping Wang
中华医学杂志英文版2018年 131卷 24期
DOI: 10.4103/0366-6999.247217
摘要
阿尔茨海默病（AD）以进行性记忆障碍和痴呆导致日常生活严重恶化为特征，一直是目前缺乏有效治疗的公共卫生危机。在≥65岁人群中，AD的报告患病率为3.21%。[
Original Article
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多模式磁共振成像在肌萎缩侧索硬化疾病进展中的监测价值：一项前瞻性观察研究Dong-Chao Shen, Yin-Yan Xu, Bo Hou, Hong-Fei Tai, Kang Zhang, Shuang-Wu Liu, Zhi-Li Wang, Feng Feng, Ming-Sheng Liu, Li-Ying Cui
中华医学杂志英文版2018年 131卷 24期
DOI: 10.4103/0366-6999.247214
摘要
Background:
Ongoing efforts have been made to identify new neuroimaging markers to track amyotrophic lateral sclerosis (ALS) progression. This study aimed to explore the monitoring value of multimodal magnetic resonance imaging (MRI) in the disease progression of ALS.
Methods:
From September 2015 to March 2017, ten patients diagnosed with ALS in Peking Union Medical College Hospital completed head MRI scans at baseline and during follow-up. Multimodal MRI analyses, including gray matter (GM) volume measured by voxel-based morphometry; cerebral blood flow (CBF) evaluated by arterial spin labeling; functional connectivity, including low-frequency fluctuation (fALFF) and regional homogeneity (ReHo), measured by resting-state functional MRI; and integrity of white-matter (WM) fiber tracts evaluated by diffusion tensor imaging, were performed in these patients. Comparisons of imaging metrics were made between baseline and follow-up using paired t-test.
Results:
In the longitudinal comparisons, the brain structure (GM volume of the right precentral gyri, left postcentral gyri, and right thalami) and perfusion (CBF of the bilateral temporal poles, left precentral gyri, postcentral gyri, and right middle temporal gyri) in both motor and extramotor areas at follow-up were impaired to different extents when compared with those at baseline (all P < 0.05, false discovery rate adjusted). Functional connectivity was increased in the motor areas (fALFF of the right precentral gyri and superior frontal gyri, and ReHo of right precentral gyri) and decreased in the extramotor areas (fALFF of the bilateral middle frontal gyri and ReHo of the right precuneus and cingulate gyri) (all P < 0.001, unadjusted). No significant changes were detected in terms of brain WM measures.
Conclusion:
Multimodal MRI could be used to monitor short-term brain changes in ALS patients.
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我国脑死亡鉴定工作的调查与改进建议Ying-Ying Su, Wei-Bi Chen, Gang Liu, Lin-Lin Fan, Yan Zhang, Hong Ye, Dai-Quan Gao, Yi-Fei Liu, Meng-Di Jiang
中华医学杂志英文版2018年 131卷 24期
DOI: 10.4103/0366-6999.247193
摘要
Background:
Brain death is the irreversible cessation of the function of the brain including the brainstem. In 2013, the Brain Injury Evaluation Quality Control Centre (BQCC) of the National Health and Family Planning Commission issued criteria and practical guidelines for the determination of brain death. This study aimed to evaluate whether the institutions have adopted these guidelines and to make suggestions for the improvement of the current criteria and practical guidelines for brain death determination in China.
Methods:
Consecutive brain death cases from 44 hospitals were evaluated for summary statistics for the following data: the performance of BQCC criteria and practical guidelines, clinical examination, apnea testing, ancillary testing, and the number of examinations as well as the waiting periods between examinations and details of who determined brain death. Data analysis was conducted from January 2013 to December 2017.
Results:
A total of 550 cases were obtained. All patients were determined to have deep coma and met the prerequisites for clinical testing. The performance rates of four brainstem reflex examinations (except cough reflex) ranged from 97.5% to 98.0%, and the completion rate as well as the coincidence rate were both 100.0%. The 238 cases (50.7%) completed apnea testing, and 231 cases (42.0%) had to stop apnea testing during the examination because of instability. The performance rates of the three ancillary tests, including electroencephalogram, short-latency somatosensory evoked potential, and transcranial Doppler, were 89.5%, 67.5%, and 79.5%, respectively; furthermore, the coincidence rates were 98.6%, 96.5%, and 99.5%, respectively. The combination of two ancillary tests was more accurate than one single ancillary test. A total of 401 (72.9%) cases successfully underwent two separate examinations to determine brain death with at least a 12-h waiting period. All brain death cases were determined by at least two qualified physicians.
Conclusion:
This study might provide suggestions for brain death determination in China.
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中国新发老年癫痫的单中心研究Jian-Hua Chen, Xiang-Qin Zhou, Qiang Lu, Li-Ri Jin, Yan Huang
中华医学杂志英文版2018年 131卷 24期
DOI: 10.4103/0366-6999.247194
摘要
Background:
Few studies have been published on new-onset geriatric epilepsy especially in older Chinese people. This study was to have a comprehensive understanding of new-onset geriatric epilepsy and find a more reasonable diagnosis and management of epilepsy in older people.
Methods:
One hundred and three patients with onset age 60 years and older were admitted between January 2008 and December 2016. Electronic medical records were reviewed to collect information.
Results:
There were 103 older patients with new-onset epilepsy. The mean age of the patients was 68.5 ± 6.4 years (range: 60–89 years), and there were 67 (65%) men and 36 (35%) women. The mean onset age was 67.9 ± 6.2 years (range: 60–89 years). The most common identifiable etiology of symptomatic seizures was autoimmune epilepsy in 43 (41.7%) patients. The second most common etiology was stroke in 15 (14.6%) patients. Seven (6.8%) older patients with acute seizures present with status epilepticus and 26 (25.2%) patients experienced clustered seizures (more than three events in 24 h) at seizure onset. Focal seizures (96.1%) were more common than generalized seizures (3.9%). Fifty-three (51.5%) patients had an abnormal brain magnetic resonance imaging (MRI) scan. Among them, video-electroencephalogram findings in 31 (30.1%) patients correlated with MRI abnormalities. Levetiracetam was the most used drugs before admission, in hospital, and during follow-up.
Conclusions:
Autoimmune encephalitis is becoming an increasing risk factor of subsequent epilepsy in older people. Older patients with new epilepsy are more likely to respond to antiepileptic drugs, and drug-resistant epilepsy is uncommon.
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脊髓性肌萎缩症的诊断：使用Sanger DNA测序定量存活运动神经元基因1/2相对量的简单方法Yan-Yan Cao, Wen-Hui Zhang, Yu-Jin Qu, Jin-Li Bai, Yu-Wei Jin, Hong Wang, Fang Song
中华医学杂志英文版2018年 131卷 24期
DOI: 10.4103/0366-6999.247198
摘要
Background:
Spinal muscular atrophy (SMA) is caused by homozygous deletion or compound heterozygous mutation of survival motor neuron gene 1 (SMN1), which is the key to diagnose SMA. The study was to establish and evaluate a new diagnostic method for SMA.
Methods:
A total of 1494 children suspected with SMA were enrolled in this study. Traditional strategy, including multiplexed ligation-dependent probe amplification (MLPA) and TA cloning, was used in 1364 suspected SMA children from 2003 to 2014, and the 130 suspected SMA children were tested by a new strategy from 2015 to 2016, who were also verified by MLPA combined with TA cloning. The SMN1 and SMN2 were simultaneously amplified by polymerase chain reaction using the same primers. Mutation Surveyor software was used to detect and quantify the SMN1 variants by calculating allelic proportions in Sanger sequencing. Finally, turnaround time and cost of these two strategies were compared.
Results:
Among 1364 suspected SMAchildren, 576 children had SMN1 homozygous deletion and 27 children had SMN1 compound heterozygous mutation. Among the 130 cases, 59 had SMN1 homozygous deletion and 8 had heterozygous deletion: the SMN1-specific peak proportion on exon 7 was 34.6 ± 1.0% and 25.5 ± 0.5%, representing SMN1:SMN2 to be 1:2 and 1:3, respectively. Moreover, five variations, including p.Ser8Lysfs *23 (in two cases), p.Leu228*, p.Pro218Hisfs *26, p.Ser143Phefs*5, and p.Tyr276His, were detected in 6/8 cases with heterozygous deletion, the mutant allele proportion was 31.9%, 23.9%, 37.6%, 32.8%, 24.5%, and 23.6%, which was similar to that of the SMN1-specific site on exon 7, suggesting that those subtle mutations were located in SMN1. All these results were consistent with MLPA and TA cloning. The turnaround times of two strategies were 7.5 h and 266.5 h, respectively. Cost of a new strategy was only 28.5% of the traditional strategy.
Conclusion:
Sanger sequencing combined with Mutation Surveyor analysis has potential application in SMA diagnosis.
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非人类免疫缺陷病毒中枢神经系统隐球菌感染患者磁共振成像与临床严重程度的比较及相关性Xue-Qin Li, Shuang Xia, Jian-Song Ji, Yong-Hua Tang, Mei-Zhu Zheng, Yong-Mei Li, Fei Shan, Zhi-Yan Lu, Jian Wang, Jin-Kang Liu 等
中华医学杂志英文版2018年 131卷 24期
DOI: 10.4103/0366-6999.247201
摘要
Background:
The incidence of cryptococcal meningitis among immunocompetent patients increases, especially in China and imaging plays an important role. The current study was to find the correlation between magnetic resonance imaging (MRI) manifestation and clinical severity in nonhuman immunodeficiency virus patients with cryptococcal infection of central nervous system (CNS).
Methods:
A total of 65 patients with CNS cryptococcal infection from August 2014 to October 2016 were retrospectively included in this study. All the patients had MRI data and clinical data. The patients were divided into two groups according to whether the patients were confirmed with identifiable underlying disease. Comparison and correlation of MRI and clinical data in both groups were investigated using independent sample t-test, Chi-square test, Mann-Whitney test and Spearman rank correlation analysis.
Results:
In all 65 patients, 41 cases (41/65, 63.1%; Group 1) had normal immunity and 24 cases (24/65, 36.9%; Group 2) had at least one identifiable underlying disease. Fever, higher percentage of neutrophil (NEUT) in white blood cell (WBC), and increased cell number of cerebral spinal fluid (CSF) were much common in patients with underlying disease (Group 1 vs. Group 2: Fever: 21/41 vs. 21/24, χ2 = 8.715, P = 0.003; NEUT in WBC: 73.15% vs. 79.60%, Z = −2.370, P= 0.018; cell number of CSF: 19 vs. 200, Z = −4.298, P < 0.001; respectively). Compared to the patients with normal immunity, the lesions are more common in the basal ganglia among patients with identifiable underlying disease (Group 1 vs. Group 2: 20/41 vs. 20/24, χ2 = 7.636, P = 0.006). The number of the involved brain areas in patients with identifiable underlying disease were well correlated with the number of cells and pressure of CSF (r = −0.472, P = 0.031; r = 0.779, P = 0.039; respectively).
Conclusions:
With the increased number of the involved brain areas in patients with identifiable underlying disease, the body has lower immunity against the organism which might result in higher intracranial pressure and more severe clinical status.
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儿童脉络丛肿瘤的临床特点及预后危险因素Wen-Jian-Long Zhou, Xi Wang, Jia-Yi Peng, Shun-Chang Ma, Dai-Nan Zhang, Xiu-Dong Guan, Jin-Fu Diao, Jian-Xing Niu, Chun-De Li, Wang Jia
中华医学杂志英文版2018年 131卷 24期
DOI: 10.4103/0366-6999.247195
摘要
Background:
Decision-making concerning the treatment of choroid plexus tumor (CPT) in pediatric patients remains a topic of considerable debate. The aim of this work was to describe clinical features and prognostic risk factors of CPT in the pediatric population and to provide theoretical opinions regarding clinical decisions for CPT.
Methods:
The data of 96 patients with CPT and younger than 14 years were retrospectively analyzed. Clinical characteristics such as pathological type of CPTs, rate and severity of hydrocephalus, treatment and outcome, and recurrence were investigated. For categorical variables, the Pearson’s Chi-square test was performed. The Mann–Whitney U-test was used for comparisons between nonnormally distributed parameters. Log-rank test was used for progression-free survival (PFS).
Results:
The study included 70 choroid plexus papilloma (CPP) cases, 17 atypical choroid plexus papilloma (aCPP) cases, and 9 choroid plexus carcinoma (CPC) cases. Compared with patients with CPP or aCPP, patients with CPC had a shorter disease course (median: CPP, 4 months; aCPP, 2 months; CPC, 1 month; H: 23.5, P < 0.001), higher rate of acute hydrocephalus (CPP, 27.1%; aCPP, 52.9%; CPC, 77.8%; χ2 = 10.9, P < 0.05), and lower incidence of cure rate (CPP, 85.7%; aCPP, 70.5%; CPC, 33.3%; χ2 = 13.5, P < 0.05). The severity of hydrocephalus with tumor in the lateral or third ventricle was significantly higher than that with tumors in the fourth ventricle (severe hydrocephalus: lateral ventricle, 51.7%; third ventricle, 47.0%; fourth ventricle, 11.1%; χ2 = 26.0, P < 0.001). Patients with gross total surgical resection had no better PFS than those with partial resection because of the use of adjuvant therapy in the latter (χ2 = 4.0, P > 0.05). Patients with CPC experienced shorter time for recurrence than those with CPP or aCPP (χ2 = 40.1, P < 0.0001).
Conclusions:
Our results indicated that CPP in the fourth ventricle could trigger serious clinical symptoms at an early stage, requiring early intervention. Adjuvant treatment might be necessary for patients with partially resected CPP, aCPP, and CPC to achieve a favorable outcome.
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纤溶酶原激活物抑制剂1作为可切除胰腺导管腺癌预后不良的指标Wen-Jing Liu, Li Zhou, Zhi-Yong Liang, Wei-Xun Zhou, Lei You, Tai-Ping Zhang, Yu-Pei Zhao
中华医学杂志英文版2018年 131卷 24期
DOI: 10.4103/0366-6999.247211
摘要
Background:
Plasminogen activator inhibitor 1 (PAI-1) was previously established to impact several phenotypes in many kinds of cancer, including pancreatic cancer. However, its prognostic significance in pancreatic ductal adenocarcinoma (PDAC) needs support of further evidence. This study was designed to address the issue.
Methods:
PAI-1 expression was detected by tissue microarray-based immunohistochemical staining in formalin-fixed paraffin-embedded specimens from 93 PDAC patients with surgical resection from September 2004 to December 2008. Its relationships with clinicopathologic variables and tumor-specific survival (TSS) were further evaluated using Chi-square, Kaplan-Meier, log-rank, as well as Cox regression analyses.
Results:
Expression of PAI-1 was much higher in tumor than that in nontumor tissues, based on comparison of all samples and 74 matched ones (95 [47.5, 180] vs. 80 [45, 95], Z = −2.439, P = 0.015 and 100 [46.9, 182.5] vs. 80 [45, 95], Z = −2.594, P = 0.009, respectively). In addition, tumoral PAI-1 expression was positively associated with N stage (22/35 for N1 vs. 21/51 for N0, χ2 = 3.903, P = 0.048). Univariate analyses showed that TSS of patients with high PAI-1 tumors was significantly poorer than that of those with low PAI-1 tumors (log rank value = 19.00, P < 0.0001). In multivariate Cox regression test, PAI-1 expression was identified as an independent predictor for long-term prognosis of resectable PDAC (hazard ratio = 2.559, 95% confidence interval = 1.499–4.367, P = 0.001).
Conclusion:
These results suggest that expression of PAI-1 is upregulated in PDAC and might serve as a poor prognostic indicator.
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不同年龄组非糖尿病肾病临床病理特征的观察性横断面研究Xiao-Min Liu, Qian Wang, Zhe-Yi Dong, Wei-Guang Zhang, Guang-Yan Cai, Li Zhang, Yong Wang, Han-Yu Zhu, Li Tang, Wan-Jun Shen 等
中华医学杂志英文版2018年 131卷 24期
DOI: 10.4103/0366-6999.247197
摘要
Background:
Diabetes mellitus (DM) has become the leading cause of chronic kidney disease (CKD). Nondiabetic renal diseases (NDRDs) have different clinicopathological features and prognosis from those of diabetic nephropathy. Our study sought to analyze the clinical and pathological features of NDRDs, in different age groups through a cross-sectional study.
Methods:
All patients with type 2 DM at our center who underwent renal biopsy between March 1997 and March 2017 were screened and divided into three groups by age: Group 1 (youth group), 18–44 years old; Group 2 (middle-aged group), 45–59 years old; and Group 3 (elderly group), ≥60 years old. We analyzed the clinicopathological data and risk factors by univariate and multivariate logistic regression for NDRD of the patients to identify the features of NDRD in different age groups.
Results:
We included 982 patients in the final analysis. Patients with NDRD accounted for 64.4% of all patients. IgA nephropathy (IgAN) was the most common pathological pattern in young patients with NDRD, accounting for 26.3%. In the middle-aged group, the two most common pathological patterns were IgAN and membranous nephropathy. Membranous nephropathy was the most common pathological pattern in elderly patients with NDRD, accounting for 29.3%. Consistent with pathological features, glomerular hematuria is a risk factor for NDRD in Group 1 (odds ratio [OR], 26.514; 95% confidence interval [CI], 2.503–280.910; P = 0.006). On the other hand, rapidly increasing proteinuria or nephrotic syndrome is a risk factor for NDRD in Group 2 (OR, 5.921; 95% CI, 2.061–17.013; P = 0.001) and Group 3 (OR, 90.409; 95% CI, 6.198–1318.826; P = 0.001).
Conclusions:
This single-center study showed that the proportion and composition of NDRD differ among different age groups. Consistent with pathological features, some clinical indices such as hematuria and proteinuria showed different features among different age groups.
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前交叉韧带损伤的解剖学危险因素Lei Shen, Zhi-Gao Jin, Qi-Rong Dong, Liu-Bing Li
中华医学杂志英文版2018年 131卷 24期
DOI: 10.4103/0366-6999.247207
摘要
Background:
Nowadays, the anterior cruciate ligament (ACL) injury has been one of the most common diseases of the knee joint. The relationships between the ACL injury and the anatomical structures are still controversial. This study aimed to identify the anatomical risk factors of ACL injury by magnetic resonance imaging (MRI) of the knee.
Methods:
This was a retrospective study of 125 patients undergoing primary ACL reconstruction between July 2013 and May 2017. Another 125 patients without any organic knee joint injury were served as controls. The shape of intercondylar notch, the intercondylar notch width index, the intercondylar notch height index, the α angle, the β angle, and the medial and lateral tibial plateau slope were measured with MRI and compared. The data were compared by binary logistic regression to find the risk factors.
Results:
The two groups differed in the proportion of male patients (70.4% vs. 52.0%, χ2 = 8.911, P = 0.003), but gender was excluded as a risk factor for ACL injury with regression analysis (odds ratio = 1.476, 95% confidence interval [CI]: 0.689–3.160, P = 0.317). The injured group was found to have a smaller notch width index (95% CI = 7.960E-23–2.154E-9, P < 0.001), a larger β angle (95% CI = 1.311–1.785, P < 0.001), and a larger lateral tibial plateau slope (95% CI = 1.201–1.683, P < 0.001). The cutoff values of notch width index, β angle, and the lateral tibial plateau slope were 0.252, 38.5°, and 7.5°, respectively.
Conclusions:
In this study, a narrow intercondylar notch (intercondylar notch width index <0.252), a larger lateral tibial slope (>7.5°), and larger β angle (>38.5°) might be the factors associated with ACL injury.
Trial Registration:
ChiCTR-RRC-17014116; http://www.chictr.org.cn/showproj.aspx?proj=24119.
Bibliometrics
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巨噬细胞极化研究动态的文献计量分析Han Gao, Feng-Yan Huang, Zhi-Ping Wang
中华医学杂志英文版2018年 131卷 24期
DOI: 10.4103/0366-6999.247215
摘要
Background:
Macrophage polarization is involved in the development of many diseases such as obesity, diabetes, and cancer. This study aimed to understand the trends and hotspots of macrophage polarization research.
Methods:
We searched through the Web of Science Core Collection database to obtain original articles in this research domain. CiteSpace, HistCite, and VOSviewer software were used to facilitate the analysis and visualization of scientific productivity and emerging trends.
Results:
The survey included 3064 articles, and the annual number of publications exhibited an exponential increase. These articles have received a total of 74,801 citations, and the number of annual citations grew from 68 to 18,074 in a decade. Research on macrophage polarization was performed in 76 countries, and the USA ranked first in terms of research output by contributing 1129 (36.8%) articles. The USA also had the highest H-index, total citations, and highly cited article number. PLOS One, Journal of Immunology, and Scientific Reports were the three journals that published the most articles. Interdisciplinary research areas involving macrophage polarization, such as biomaterials, cancer, and diabetes, were identified by journal citation analysis. The top 20 most productive institutions were located mainly in the USA, France, and China, and top authors originated mainly from the USA and Italy. Tumor biology, obesity, and infection were research hotspots and may be promising in the next few years.
Conclusions:
This study provides a comprehensive analysis that delineates the scientific productivity, collaboration, and research hotspots of macrophage polarization research.
Consensus
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帕金森病患者睡眠障碍的管理建议Chun-Feng Liu, Tao Wang, Shu-Qin Zhan, De-Qin Geng, Jian Wang, Jun Liu, Hui-Fang Shang, Li-Juan Wang, Piu Chan, Hai-Bo Chen 等
中华医学杂志英文版2018年 131卷 24期
DOI: 10.4103/0366-6999.247210
摘要
睡眠障碍是帕金森病（PD）最常见的非运动症状之一。睡眠障碍影响着世界上40-98%的PD患者。[
Correspondence
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2例中国细丝蛋白C肌病的临床、病理和遗传学特征Yu-Tong Zhang, Chuan-Qiang Pu, Rui Ban, Hua-Xu Liu, Qiang Shi, Xiang-Hui Lu
中华医学杂志英文版2018年 131卷 24期
DOI: 10.4103/0366-6999.247208
摘要
致编辑：Filamin C(民族解放阵线）肌病是一种常染色体显性遗传性肌病，由民族解放阵线.民族解放阵线属于丝蛋白超家族，与肌动蛋白丝交联形成网络，将膜蛋白锚定在细胞骨架上。人蛋白质细丝蛋白包含由人基因组编码的三种同工型：细丝蛋白A、B和C。其中，民族解放阵线是一种Z盘蛋白，由民族解放阵线基因，主要在骨骼肌和心肌中表达。民族解放阵线基因位于染色体7q32-q35上，含有长度约29.5 kb的基因组DNA和49个编码外显子。民族解放阵线是主要在横纹肌中表达的丝氨酸蛋白酶的同种型，含有2725个氨基酸，分子量为291,000。民族解放阵线蛋白质包含两个结构域。氨基末端由两个钙调蛋白同源结构域组成，它们一起构成肌动蛋白结合结构域(ABD)，随后是24个细丝蛋白型免疫球蛋白(Ig-FLMN)重复结构域(杆重叠结构域)，其中最羧基末端负责二聚化、组装和锚定细丝。每个视杆重叠结构域由7条β链组成，其中3-4条β链构成一个β折叠，两个β折叠之间形成蛋白结合界面。
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青春期女孩继发于鼻窦炎的半球间硬膜下脓胸1例Yao-Yao Shen, Zhi-Juan Cheng, Jing-Yan Chai, Ting-Min Dai, Ying Luo, Yan-Qin Guan, Hong-Bing Nie
中华医学杂志英文版2018年 131卷 24期
DOI: 10.4103/0366-6999.247213
摘要
编者按：随着抗生素应用的出现，副鼻窦炎的颅内并发症，包括脑膜炎、颅内脓肿、硬膜下脓胸（SDE）、硬膜外脓肿、海绵窦血栓形成和其他硬膜窦血栓形成已不常见。[
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小说WDR45一例9个月大癫痫性痉挛男婴的突变Wan-Ting Liu, Qian Chen, Zhi-Jie Gao, Xin-Na Ji, Ke-Ming Xu, Yan-Yan Cao
中华医学杂志英文版2018年 131卷 24期
DOI: 10.4103/0366-6999.247216
摘要
编辑：神经变性伴脑铁积聚(NBIA)包括一组表现为早发或晚发性帕金森综合征、肌张力障碍、痉挛和认知障碍的疾病。[
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脑动静脉畸形混合手术经静脉栓塞新技术Ming-Ze Wang, Han-Cheng Qiu, Shuo Wang, Yong Cao, Meng Zhao, Ji-Zong Zhao
中华医学杂志英文版2018年 131卷 24期
DOI: 10.4103/0366-6999.247199
摘要
致编者：消除病灶被认为是治愈脑动静脉畸形的关键。在进行介入栓塞时，建议在注射栓塞剂前超选择靠近病灶的微导管。传统的栓塞是通过动脉途径进行的，这需要动脉供血器的可及性。在病变口径狭窄、病程曲折或动脉供应“通道内”的病例中，困难和风险增加。经静脉入路被证明是bAVM栓塞安全有效的途径，不受动脉的限制。[
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17个家系原发性家族性脑钙化的临床特征Yuan-Tao Huang, Li-Hua Zhang, Mei-Fang Li, Lin Cheng, Jian Qu, Yu Cheng, Xi Li, Guo-Ying Zou, Hong-Hao Zhou
中华医学杂志英文版2018年 131卷 24期
DOI: 10.4103/0366-6999.247218
摘要
编者按：原发性家族性脑钙化（PFBC）是一种罕见的遗传性退行性疾病，一般以基底节、丘脑、齿状核等脑区对称性、双侧钙质沉着为特征，主要表现为神经和精神症状。越来越多的研究报告了这种情况与致病突变之间的联系，例如SLC20A2、PDGFRB、PDGFB、XPR1、和MYORG基因。[
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男性原发性肺绒癌1例Yuan Ma, Chun Wang, Pei-Li Sun, Yan Zhu, Zhen-Kai Huang, Shu-Xian Jin
中华医学杂志英文版2018年 131卷 24期
DOI: 10.4103/0366-6999.247205
摘要
致编者：性腺外非癌性绒毛膜癌是非常罕见的肿瘤，大多在中线结构中自发发生，如腹膜后、纵隔和松果体附近，但在其他内脏器官中也有报道，如胃、食管、小肠、前列腺和膀胱。[
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神经系统异常可能是家族性噬血细胞性淋巴组织细胞增多症的首发和唯一症状：两个家系的报告Yun-Ze Zhao, Hua Cheng, Chang-Hong Ding, Hong-Hao Ma, Tong-Li Han, Jiu-Wei Li, Dong Wang, Zhi-Gang Li, Tian-You Wang, Rui Zhang
中华医学杂志英文版2018年 131卷 24期
DOI: 10.4103/0366-6999.247206
摘要
致编辑：噬血细胞性淋巴组织细胞增多症(HLH)是一种危及生命的疾病，影响身体的许多部位，包括消化系统、循环系统和呼吸系统。中枢神经系统(CNS)也可能受到影响，特别是在家族性HLH-2(FHL-2)患者中，其约占所有FHL的20%。FHL-2是突变的结果穿孔素1(PRF1)基因，其可以出现在基因上的许多位点。[
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A型肉毒毒素经肛门直肠注射治疗成人先天性巨结肠Jin-Yang Liu, Zhong-Qing Zheng, Ke Zhao, Chao Luo, Hong-Qiu Han
中华医学杂志英文版2018年 131卷 24期
DOI: 10.4103/0366-6999.247209
摘要
致编者：患者是一名16岁的青春期男孩，被诊断为先天性巨结肠。10多年来，他排便困难。他的排便在一周前停止了。因不完全性肠梗阻入院。患者表现出中度营养、精神健康状况不佳和腹部完全隆起的体征，腹围为104 cm。直肠检查为爆破排气排便，肛门压力测量值为89 mmHg。全腹部增强计算机断层扫描和全结肠直肠痰造影显示直肠上、中、降结肠、横结肠、升结肠扩张，肠最大直径23 cm，肠内充满粪便，提示直肠下段和乙状结肠狭窄[
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与植入的中心静脉通路装置相关的复发性脓毒性肺栓塞Goohyeon Hong, Youn Seup Kim
中华医学杂志英文版2018年 131卷 24期
DOI: 10.4103/0366-6999.247196
摘要
致编者：脓毒性肺栓塞（SPE）是一种罕见的非血栓性肺栓塞，其中含栓子的病原体和脓性物质与纤维蛋白血栓混合栓塞至肺动脉，引起肺栓塞伴局灶性肺部感染。来自该复合体的栓塞导致小肺血管狭窄和/或阻塞，这经常导致肺部感染。SPE通常与使用受感染的中心静脉导管以及心内膜炎、脓毒性血栓性静脉炎（包括Lemierre综合征）和口咽部感染有关。[
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原发性角部妊娠11例诊治分析Duo-Duo Zhang, Ying Gao, Jing-He Lang, Lan Zhu
中华医学杂志英文版2018年 131卷 24期
DOI: 10.4103/0366-6999.247200
摘要
编者：单角子宫是由成对苗勒管的吻合失败引起的，其中一个苗勒管同时发育不全或缺失，称为“雏形角”。角通过最小连接的窄纤维组织带或宽而坚固的肌肉附件连接到单角侧；角的肌肉层从厚而强壮到薄而畸形。最罕见和最严重的并发症是初级角妊娠（RHP），通常会导致灾难性的后果。我们参考了北京协和医院（PUMCH）自1980年以来的11例RHP病例。
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