Volume 130 · Issue 02 · 2017

费城阳性急性淋巴细胞白血病（Ph+ALL）约占所有成人ALL病例的25-33%。其预后令人沮丧，直到酪氨酸激酶抑制剂（TKIs）引入临床应用。与单独化疗相比，TKIs联合化疗导致更高的完全缓解（CR）和完全分子缓解（CMR）率。然而，一旦患者达到CR，同种异体干细胞移植（allo-SCT）被认为是唯一潜在的治愈选择。关于在同种异体SCT之前或之后使用TKIs，仍有一些问题没有得到解答。伊马替尼是首个与化疗联合用于诱导和维持治疗的TKI。它的最佳剂量是多少，应该维持多久？第二代TKIs在诱导和维持方面是否会产生更好的结果？在没有同种异体SCT的情况下，是否有治愈的患者可以获得长期生存，如果有，如何识别这些患者？同种异体SCT后使用TKIs的作用是什么？本文讨论了在allo-SCT之前和之后使用TKI的证据。

Elderly multiple myeloma (MM) patients often tend to suffer a variety of diseases, so the treatment of choice is very difficult for the elderly myeloma patients. The overall survival (OS) time and side effects with elderly patients are unclear in China. The study tried to find out the role of geriatric assessment in the Chinese elderly MM.　

We retrospectively analyzed the data of 628 newly diagnosed patients from six hospitals from June 2011 to June 2013. A geriatric assessment had been performed to assess comorbidities, cognitive, and physical status for these patients. The primary endpoint was to evaluate different physical states of elderly patients with OS time and treatment-related side effects.　

An additive scoring system (range: 0–5), based on age, Katz’s Activity of Daily Living (ADL) and Lawton’s Instrumental Activity of Daily Living (IADL) ≤5 and Charlson Comorbidity Index (CCI) was developed to identify three groups: fit (score = 0); intermediate-fitness (score = 1); and frail (score ≥2). The 3-year OS was 63% in fit patients, 63% in intermediate-fitness patients, and 49% in frail patients ≥3 hematologic adverse events (AEs) were documented in 45 (35.4%) fit, 34 (34%) intermediate-fitness, and 121 (30.2%) frail patients. The risk of a grade ≥3 hematologic AEs was not significantly increase in intermediate-fitness (hazard ratios [HR]: 0.99, 95% confidence interval [CI]: 0.54–1.47, P = 1.000) and in frail patients (HR: 1.16, 95% CI: 0.70–1.93, P = 0.558) compared with fit ones.　

MM occurs earlier in life and being advanced when the diagnosis is made in the mainland of China. The overall survival in frailty with International Staging System (ISS) II/III was the worst in all patients.

The established clinical staging systems (Rai/Binet) of chronic lymphocytic leukemia (CLL) cannot accurately predict the appropriate treatment of patients in the earlier stages. In the past two decades, several prognostic factors have been identified to predict the outcome of patients with CLL, but only a few studies investigated more markers together. To predict the time to first treatment (TTFT) in patients of early stages, we evaluated the prognostic role of conventional markers as well as cytogenetic abnormalities and combined them together in a new prognostic scoring system, the CLL prognostic index (CLL-PI).　

Taking advantage of a population of 406 untreated Chinese patients with CLL at early and advanced stage of disease, we identified the strongest prognostic markers of TTFT and, subsequently, in a cohort of 173 patients who had complete data for all 3 variables, we integrated the data of traditional staging system, cytogenetic aberrations, and mutational status of immunoglobulin heavy chain variable region (IGHV) in CLL-PI. The median follow-up time was 45 months and the end point was TTFT.　

The median TTFT was 38 months and the 5-year overall survival was 80%. According to univariate analysis, patients of advanced Rai stages (P < 0.001) or with 11q- (P = 0.002), 17p- (P < 0.001), unmutated IGHV (P < 0.001), negative 13q- (P = 0.007) and elevated lactate dehydrogenase levels (P = 0.001) tended to have a significantly shorter TTFT. And subsequently, based on multivariate Cox regression analysis, three independent factors for TTFT were identified: advanced clinical stage (P = 0.002), 17p- (P = 0.050) and unmutated IGHV (P= 0.049). Applying weighted grading of these independent factors, a CLL-PI was constructed based on regression parameters, which could categorize four different risk groups (low risk [score 0], intermediate low [score 1], intermediate high [score 2] and high risk [score 3–6]) with significantly different TTFT (median TTFT of not reached (NR), 65.0 months, 36.0 months and 19.0 months, respectively, P < 0.001).　

This study developed a weighted, integrated CLL-PI prognostic system of CLL patients which combines the critical genetic prognostic markers with traditional clinical stage. This novel modified PI system could be used to discriminate among groups and may help predict the TTFT and prognosis of patients with CLL.

In the early stages of atrial remodeling, aortic stiffness might be an indication of an atrial myopathy, in particular, atrial fibrosis. This study aimed to investigate the association between left atrial (LA) mechanical function, assessed by two-dimensional speckle tracking echocardiography, and aortic stiffness in middle-aged patients with the first episode of nonvalvular atrial fibrillation (AF).　

This prospective study included 34 consecutive patients with the first episode of AF, who were admitted to Kartal Koşuyolu Research and Training Hospital between May 2013 and October 2015, and 31 age- and gender-matched healthy controls. During the 1^st month (mostly in the first 2 weeks) following their first admission, 34 patients underwent the first pulse wave measurements. Then, 21 patients were recalled for their second pulse wave measurement at 11.8 ± 6.0 months following their initial admission. Echocardiographic and pulse wave findings were compared between these 34 patients and 31 healthy controls. We also compared the pulse wave and echocardiographic findings between the first and second measurements in 21 patients.　

Pulse wave analysis showed no significant differences between the AF patients and healthy controls with respect to PWV (10.2 ± 2.5 m/s vs. 9.7 ± 2.1 m/s; P = 0.370), augmentation pressure (9.6 ± 7.4 mmHg vs. 9.1 ± 5.7 mmHg; P = 0.740), and aortic pulse pressure (AoPP; 40.4 ± 14.0 mmHg vs. 42.1 ± 7.6 mmHg, P = 0.550). The first LA positive peak of strain was inversely related to the augmentation pressure (r = −0.30; P = 0.02) and aortic systolic pressure (r = −0.26, P = 0.04). Comparison between the two consecutive pulse wave measurements in 21 patients showed similar results, except for AoPP. In 21 patients, the AoPP at the second measurement (45.1 ± 14.1 mmHg) showed a significant increase compared with AoPP at the first measurement (39.0 ± 10.6 mmHg, P = 0.028), which was also higher than that of healthy controls (42.1 ± 7.6 mmHg, P = 0.000).　

The association between aortic stiffness with reduced atrial strain and the key role of AoPP in the development of AF should be considered when treating nonvalvular AF patients with normal LA sizes.

The ¹³C urea breath test (¹³C-UBT) is the gold standard for detecting Helicobacter pylori infection. H. pylori pathogenesis in patients with hepatitis B virus (HBV) and related diseases remains obscure. We used ¹³C-UBT to detect H. pylori infection in patients with chronic HBV infection, HBV-related cirrhosis, HBV-related hepatic carcinoma, and other chronic hepatic diseases.　

A total of 131 patients with chronic hepatitis B (HB), 179 with HBV-related cirrhosis, 103 with HBV-related hepatic carcinoma, 45 with HBV-negative hepatic carcinoma, and 150 controls were tested for H. pylori infection using ¹³C-UBT. We compared H. pylori infection rate, liver function, complications of chronic hepatic disease, serum HBV-DNA, serum alpha-fetoprotein (AFP), and portal hypertensive gastropathy (PHG) incidence among groups.　

HBV-related cirrhosis was associated with the highest H. pylori infection rate (79.3%). H. pylori infection rate in chronic HB was significantly higher than in the HBV-negative hepatic carcinoma and control groups (P < 0.001). H. pylori infection rate in patients with HBV-DNA ≥10³ copies/ml was significantly higher than in those with HBV-DNA <103 copies/ml (76.8% vs. 52.4%, P < 0.001). Prothrombin time (21.3 ± 3.5 s vs. 18.8 ± 4.3 s), total bilirubin (47.3±12.3 μmol/L vs. 26.6 ±7.9 μmol/L), aspartate aminotransferase (184.5 ± 37.6 U/L vs. 98.4 ± 23.5 U/L), blood ammonia (93.4 ± 43.6 μmol/L vs. 35.5 ± 11.7 μmol/L), and AFP (203.4 ± 62.6 μg/L vs. 113.2 ± 45.8 μg/L) in the ¹³C-UBT-positive group were significantly higher than in the ¹³C-UBT-negative group (P < 0.01). The incidence rates of esophageal fundus variceal bleeding (25.4% vs. 16.0%), ascites (28.9% vs. 17.8%), and hepatic encephalopathy (24.8% vs. 13.4%) in the ¹³C-UBT-positive group were significantly higher than in the 13C-UBT-negative group (P < 0.01). The percentages of patients with liver function in Child-Pugh Grade C (29.6% vs. 8.1%) and PHG (43.0% vs. 24.3%) in the ¹³C-UBT-positive group were significantly higher than in the ¹³C-UBT-negative group (P < 0.05).　

It is possible that H. pylori infection could increase liver damage caused by HBV. H. pylori eradication should be performed in patients with complicating H. pylori infection to delay hepatic disease progression.

Age-related macular degeneration (AMD) is a major cause of irreversible blindness, and awareness of this disease is important in the prevention of blindness. However, lack of public awareness of AMD was shown in previous studies, and there was no report of AMD awareness in the Mainland of China. Therefore, the aim of our study was to assess the awareness of AMD and its risk factors among Beijing residents in China.　

A cross-sectional, computer-assisted, telephone investigation was conducted to measure the awareness of AMD among Beijing residents. All the contacts of potential respondents were randomly generated by computer. Only those above 18 years of age and willing to participate in the study were included. The questionnaire for the study was modified from the AMD Alliance International Global Report. Pearson’s Chi-square test and binary logistic regression analysis were used to identify the factors that affected the knowledge of AMD.　

Among 385 Beijing residents who agreed to participate, the awareness of AMD was 6.8%, far below than that of cataract and glaucoma. Participants who were above 30 years of age (odds ratio [OR] 6.17, confidence interval [CI] 1.44–26.57), with experience of health-related work (OR 8.11, CI 3.25–20.27), and whose relatives/friends or themselves suffering from AMD (OR 32.18, CI 11.29–91.68) had better AMD awareness. Among those familiar with AMD, only 35% of them identified smoking as a risk factor, and only 23.1% of the residents believed that smoking could lead to blindness.　

The sample of Chinese population had limited knowledge of AMD. Educational programs need to be carried out to raise public awareness of AMD.

Drug is an important cause of liver injury and accounts for up to 40% of instances of fulminant hepatic failure. Drug-induced liver injury (DILI) is increasing while the diagnosis becomes more difficult. Though many drugs may cause DILI, Chinese herbal medicines have recently emerged as a major cause due to their extensive use in China. We aimed to provide drug safety information to patients and health carers by analyzing the clinical and pathological characteristics of the DILI and the associated drug types.　

A retrospective analysis was conducted in 287 patients diagnosed with DILI enrolled in our hospital from January 2011 to December 2015. The categories of causative drugs, clinical and pathological characteristics were reviewed.　

Western medicines ranked as the top cause of DILI, accounting for 163 out of the 287 DILI patients (56.79%) in our study. Among the Western medicine, antituberculosis drugs were the highest cause (18.47%, 53 patients) of DILI. Antibiotics (18 patients, 6.27%) and antithyroid (18 patients, 6.27%) drugs also ranked among the major causes of DILI. Chinese herbal medicines are another major cause of DILI, accounting for 36.59% of cases (105 patients). Most of the causative Chinese herbal medicines were those used to treat osteopathy, arthropathy, dermatosis, gastropathy, leukotrichia, alopecia, and gynecologic diseases. Hepatocellular hepatitis was prevalent in DILI, regardless of Chinese herbal medicine or Western medicine-induced DILI.　

Risks and the rational use of medicines should be made clear to reduce the occurrence of DILI. For patients with liver injury of unknown origin, liver tissue pathological examination is recommended for further diagnosis.

Cleidocranial dysplasia (CCD) is an autosomal dominant disease that affects the skeletal system. Common symptoms of CCD include hypoplasia or aplasia of the clavicles, delayed or even absent closure of the fontanels, midface hypoplasia, short stature, and delayed eruption of permanent and supernumerary teeth. Previous studies reported a connection between CCD and the haploinsufficiency of runt-related transcription factor 2 (RUNX2). Here, we report a sporadic Chinese case presenting typical symptoms of CCD.　

We made genetic testing on this sporadic Chinese case and identified a novel RUNX2 frameshift mutation: c.1111dupT. In situ immunofluorescence microscopy and osteocalcin promoter luciferase assay were performed to compare the functions of the RUNX2 mutation with those of wild-type RUNX2.　

RUNX2 mutation was observed in the perinuclear region, cytoplasm, and nuclei. In contrast, wild-type RUNX2 was confined in the nuclei, which indicated that the subcellular compartmentalization of RUNX2 mutation was partially perturbed. The transactivation function on osteocalcin promoter of the RUNX2 mutation was obviously abrogated.　

We identified a sporadic CCD patient carrying a novel insertion/frameshift mutation of RUNX2. This finding expanded our understanding of CCD-related phenotypes.

Shensong Yangxin (SSYX), a traditional Chinese herbal medicine, has long been used clinically to treat arrhythmias in China. However, the mechanism of SSYX on atrial fibrillation (AF) is unknown. In this study, we tested the hypothesis that the effect of SSYX on the progression of paroxysmal AF is correlated with the regulation of autonomic nerve activity.　

Eighteen mongrel dogs were randomly divided into control group (n = 6), pacing group (n = 6), and pacing + SSYX group (n = 6). The control group was implanted with pacemakers without pacing; the pacing group was implanted with pacemakers with long-term intermittent atrial pacing; the pacing + SSYX group underwent long-term intermittent atrial pacing and SSYX oral administration.　

Compared to the pacing group, the parameters of heart rate variability were lower after 8 weeks in the pacing + SSYX group (low-frequency [LF] component: 20.85 ± 3.14 vs. 15.3 ± 1.89 ms², P = 0.004; LF component/high-frequency component: 1.34 ± 0.33 vs. 0.77 ± 0.15, P < 0.001). The atrial effective refractory period (AERP) was shorter and the dispersion of the AERP was higher after 8 weeks in the pacing group, while the changes were suppressed by SSYX intake. The dogs in the pacing group had more episodes and longer durations of AF than that in the pacing + SSYX group. SSYX markedly inhibited the increase in sympathetic nerves and upregulation of tumor necrosis factor-alpha and interleukin-6 expression in the pacing + SSYX group. Furthermore, SSYX suppressed the decrease of acetylcholine and α7 nicotinic acetylcholine receptor protein induced by long-term intermittent atrial pacing.　

SSYX substantially prevents atrial electrical remodeling and the progression of AF. These effects of SSYX may have association with regulating the imbalance of autonomic nerve activity and the cholinergic anti-inflammatory pathway.

The molecular mechanisms of Shenxianshengmai (SXSM), a traditional Chinese medicine, on bradycardia have been incompletely understood. The study tried to investigate the gene expression profile and proteomics of bradycardia rabbits’ hearts after SXSM treatment.　

Twenty-four adult rabbits were randomly assigned in four groups: sham, model, model plus SXSM treatment, and sham plus SXSM treatment groups. Heart rate was recorded in all rabbits. Then, total RNA of atria and proteins of ventricle were isolated and quantified, respectively. Gene expression profiling was conducted by gene expression chip, and quantitative real-time reverse transcription- polymerase chain reaction (RT-PCR) was performed to confirm the results of gene expression chip. We used isobaric tags for elative and absolute quantitation and Western blotting to identify altered proteins after SXSM treatment.　

There was a constant decrease in the mean heart rate (32%, from 238 ± 6 beats/min to 149 ± 12 beats/min) after six weeks in model compared with that in sham group. This effect was partially reversed by 4-week SXSM treatment. Complementary DNA microarray demonstrated that the increased acetylcholinesterase and reduced nicotinic receptor were take responsibility for the increased heart rate. In addition, proteins involved in calcium handling and signaling were affected by SXSM treatment. Real-time RT-PCR verified the results from gene chip. Results from proteomics demonstrated that SXSM enhanced oxidative phosphorylation and tricarboxylic acid (TCA) cycle in ventricular myocardium to improve ATP generation.　

Long-term SXSM stimulates sympathetic transmission by increasing the expression of acetylcholinesterase and reduces the expression of nicotinic receptor to increase heart rate. SXSM also restored the calcium handling genes and altered genes involved in signaling. In addition, SXSM improves the ATP supply of ventricular myocardium by increasing proteins involved in TCA cycle and oxidation-respiratory chain.

In addition to neurons, all components of the neurovascular unit (NVU), such as glial, endothelial, and basal membranes, are destroyed during traumatic brain injury (TBI). Previous studies have shown that excessive stimulation of calpain is crucial for cerebral injury after traumatic insult. The objective of this study was to investigate whether calpain activation participated in NVU disruption and edema formation in a mouse model of controlled cortical impact (CCI).　

One hundred and eight mice were divided into three groups: the sham group, the control group, and the MDL28170 group. MDL28170 (20 mg/kg), an efficient calpain inhibitor, was administered intraperitoneally at 5 min, 3 h, and 6 h after experimental CCI. We then measured neurobehavioral deficits, calpain activity, inflammatory mediator levels, blood–brain barrier (BBB) disruption, and NVU deficits using electron microscopy and histopathological analysis at 6 h and 24 h after CCI.　

The MDL28170 treatment significantly reduced the extent of both cerebral contusion (MDL28170 vs. vehicle group, 16.90 ± 1.01 mm³ and 17.20 ± 1.17 mm³ vs. 9.30 ± 1.05 mm³ and 9.90 ± 1.17 mm³, both P < 0.001) and edema (MDL28170 vs. vehicle group, 80.76 ± 1.25% and 82.00 ± 1.84% vs. 82.55 ± 1.32% and 83.64 ± 1.25%, both P < 0.05), improved neurological scores (MDL28170 vs. vehicle group, 7.50 ± 0.45 and 6.33 ± 0.38 vs. 12.33 ± 0.48 and 11.67 ± 0.48, both P < 0.001), and attenuated NVU damage resulting (including tight junction (TJ), basement membrane, BBB, and neuron) from CCI at 6 h and 24 h. Moreover, MDL28170 markedly downregulated nuclear factor-κB-related inflammation (tumor necrosis factor-α [TNF-α]: MDL28170 vs. vehicle group, 1.15 ± 0.07 and 1.62 ± 0.08 vs. 1.59 ± 0.10 and 2.18 ± 0.10, both P < 0.001; inducible nitric oxide synthase: MDL28170 vs. vehicle group, 4.51 ± 0.23 vs. 6.23 ± 0.12, P < 0.001 at 24 h; intracellular adhesion molecule-1: MDL28170 vs. vehicle group, 1.45 ± 0.13 vs. 1.70 ± 0.12, P < 0.01 at 24 h) and lessened both myeloperoxidase activity (MDL28170 vs. vehicle group, 0.016 ± 0.001 and 0.016 ± 0.001 vs. 0.024 ± 0.001 and 0.023 ± 0.001, P < 0.001 and 0.01, respectively) and matrix metalloproteinase-9 (MMP-9) levels (MDL28170 vs. vehicle group, 0.87 ± 0.13 and 1.10 ± 0.10 vs. 1.17 ± 0.13 and 1.25 ± 0.12, P < 0.001 and 0.05, respectively) at 6 h and 24 h after CCI.　

These findings demonstrate that MDL28170 can protect the structure of the NVU by inhibiting the inflammatory cascade, reducing the expression of MMP-9, and supporting the integrity of TJ during acute TBI.

Although that glomerulonephritis is the major cause of end-stage renal disease in developing countries such as China, the increasing prevalence of diabetes has contributed to the changing spectrum of predialysis chronic kidney disease. Recent studies have revealed an increased proportion of patients with diabetic kidney disease (DKD) in hemodialysis populations in large cities in China. However, studies regarding the clinical phenotype of DKD in China are extremely limited. The incidence, development, and prognosis of diabetic kidney disease (INDEED) study aims to investigate the incidence, progression, and prognosis of DKD, as well as the associated genetic, behavioral, and environmental factors and biomarkers in patients with DKD in China.　

INDEED study is a prospective cohort study based on all participants with diabetes in the Kailuan study, which is a general population-based cohort study in northern China. Altogether, over 10,000 participants with diabetes will be followed biennially. Questionnaires documenting general characteristics, behavioral and environmental factors, and medical history will be administrated. Anthropometric measurements and a series of laboratory tests will be performed in one central laboratory. The DNA, plasma, and urine samples of every participant will be stored in a biobank for future research.　

INDEED study will provide essential information regarding the clinical phenotype and prognosis of patients with DKD in China and will be valuable to identify factors and biomarkers associated with patients with DKD in China.

抗心律失常药物仍然是心律失常治疗方法中至关重要的组成部分。在过去的20年中，尽管I类和III类抗心律失常药物在许多病理环境中具有抗心律失常功效，但已被证明与致心律失常的发生以及通过诱发尖端扭转型室性心动过速和其他严重不良反应而导致更高死亡率的可能性增加有关。因此，开发安全有效的抗心律失常方案仍然是当代心血管研究的主要焦点。

Leukemia is the most common pediatric malignancy and a major cause of morbidity and mortality in children. Among all subtypes, a lack of consensus exists regarding the diagnosis and treatment of acute myeloid leukemia (AML). Patient survival rates have remained modest for the past three decades in AML. Recently, targeted therapy has emerged as a promising treatment.　

We searched the PubMed database for recently published research papers on diagnostic development, target therapy, and other novel therapies of AML. Clinical trial information was obtained from ClinicalTrials.gov. For the major purpose of this review that is to outline the latest therapeutic development of AML, we only listed the ongoing clinical trials for reference. However, the published results of complete clinical trials were also mentioned.　

This article reviewed the latest developments related to the diagnosis and treatment of AML. In the first portion, we provided some novel insights on the molecular basis of AML, as well as provided an update on the classification of AML. In the second portion, we summarized the results of research on potential molecular therapeutic agents including monoclonal antibodies, tyrosine kinase/Fms-like tyrosine kinase 3 (FLT3) inhibitors, epigenetic/demethylating agents, and cellular therapeutic agents. We will also highlight ongoing research and clinical trials in pediatric AML.　

We described clonal evolution and how it changes our view on leukemogenesis, treatment responses, and disease relapse. Pediatric-specific genomic mapping was discussed with a novel diagnostic method highlighted. In the later portion of this review, we summarized the researches on potential molecular therapeutic agents including monoclonal antibodies, tyrosine kinase/FLT3 inhibitors, epigenetic/demethylating agents, and cellular therapeutic agents.　Conclusion: Gene sequencing techniques should set the basis for next-generation diagnostic methods of AML, and target therapy should be the focus of future clinical research in the exploration of therapeutic possibilities.

To provide a comprehensive literature review on roles of coagulation factor XIII (FXIII) in coagulation, wound healing, neoplasm, bone metabolism, and pregnancy.　

All articles in PubMed with key words "Coagulation factor XIII" , "wound" , "leukemia" , "tumor" , "bone," and "pregnancy" with published date from 2001 to 2016 were included in the study. Frequently cited publications before 2000 were also included.　

We reviewed the role of FXIII in biologic processes as documented in clinical, animal, and in vitro studies.　

FXIII, a member of the transglutaminase (TG) family, plays key roles in various biological processes. Besides its well-known function in coagulation, the cross-linking of small molecules catalyzed by FXIII has been found in studies to help promote wound healing, improve bone metabolism, and prevent miscarriages. The study has also shown that FXIII concentration level differs in the blood of patients with leukemia and solid tumors and offers promises as a diagnostic indicator.　Conclusions: FXIII has many more biologic functions besides being known as coagulation factor. The TG activity of FXIII contributes to several processes, including wound healing, bone extracellular matrix stabilization, and the interaction between embryo and decidua of uterus. Further research is needed to elucidate the link between FXIII and leukemia and solid tumors.

To review the recent literatures related to the factors associated with the size of the HIV reservoir and their clinical significance.　

Literatures related to the size of HIV DNA was collected from PubMed published from 1999 to June 2016.　

All relevant articles on the HIV DNA and reservoir were collected and reviewed, with no limitation of study design.　

The composition and development of the HIV-1 DNA reservoir in either treated or untreated patients is determined by integrated mechanism comprising viral characteristics, immune system, and treatment strategies. The HIV DNA reservoir is a combination of latency and activity. The residual viremia from the stochastic activation of the reservoir acts as the fuse, continuing to stimulate the immune system to maintain the activated microenvironment for the rebound of competent virus once treatment with antiretroviral therapy is discontinued.　Conclusion: The size of the HIV-1 DNA pool and its composition has great significance in clinical treatment and disease progression.

根治性膀胱切除术治疗膀胱和尿流改道被认为是治疗肌层浸润性膀胱癌或高危非肌层浸润性膀胱癌的金标准。尿流改道通常分为三种类型：原位新膀胱、回肠导管或乙状结肠导管、经皮输尿管造口术。^[1]原位新膀胱是比其他类型更好的尿改道选择，因为它没有尿改道，当这种方法对患者可行时，生活质量更好。形成原位新膀胱后的并发症之一是尿失禁。随着原位新膀胱手术数量的增加，更多的患者患有尿失禁。因此，需要一种用于诊断和治疗原位回肠新膀胱手术后尿失禁的物品。

隐源性机化性肺炎（COP）是一种独特类型的特发性间质性肺炎，对皮质类固醇治疗的应答率为65-85%。COP诊断的难点在于临床特征和放射学表现无特异性。机化性肺炎（OP）的病理标志需要确认。也可发生于其他多种间质性肺炎、感染性疾病、血管炎等。^[1]为了增加病理可靠性，需要更大和更多的组织样本。根据目前间质性肺病的分类和指南，建议进行外科肺活检，并被认为是获得代表性肺标本的最佳方法。^[2]然而，侵入性诊断程序需要全身麻醉，并且还增加了发病率和死亡率风险；因此，只有少数患者进行这种活检。因此，迫切需要更安全和更可接受的方法来鉴定COP。

多发性骨髓瘤（MM）是第二常见的血液恶性肿瘤。近年来沙利度胺、硼替佐米和来那度胺等新型药物的引入显著改善了MM患者的缓解率、无进展生存期（PFS）和总生存期（OS）。^[1,2]然而，除了这些益处之外，还观察到发生继发性原发性恶性肿瘤（SPMs）的风险显著增加。到目前为止，还没有一项针对中国MM患者的相关大型研究可用于研究SPMs，也没有单独硼替佐米治疗后继发性恶性肿瘤的报道。

TheC12orf65基因是编码有助于线粒体翻译的线粒体基质蛋白的核基因。^[1]C12orf65基因相关疾病是罕见的，存在大的异表型。^[1,2,3,4]大多数报告的患者都有视神经萎缩伴智力残疾、脑肌病、痉挛性截瘫和眼肌麻痹。^[1,2,3]在一个家族中报告了周围神经病变。^[3]在这里，我们报告了一例中国患者的视神经萎缩和远端运动神经病变，由于一种新的复合杂合突变C12orf65基因。

大面积肺栓塞（PE）是围手术期的一种罕见事件，是麻醉管理的一个主要挑战。大量PE通常与意外的血流动力学塌陷和严重去饱和有关，而没有其他特征性变化。围手术期很难做出快速诊断，尤其是在全身麻醉下。我们报告了一例罕见的全身麻醉恢复期经胸超声心动图(TTE)诊断为巨大PE的病例。

肺气肿性肾盂肾炎（EPN）是一种罕见的感染性疾病，其危险因素为控制不良的糖尿病、免疫抑制和尿路梗阻。^[1,2]与单纯肾盂肾炎相比，EPN是一种肾实质急性严重坏死和气体形成性感染，死亡率高达25%。^[3]在报告的EPN病例中，只有一例在非对比腹部计算机断层扫描（CT）中在肺窗中检测到“隐形肾脏”的疾病报告。这一罕见病例接受了真空封闭引流（VSD，威高控股，中国）治疗，并迅速恢复。

致编者：北京协和医院收治一名36岁女性患者，主诉头痛6年。磁共振成像(MRI)显示鞍内病变，T1加权像和T2加权像呈均匀高信号，钆给药呈不均匀对比增强[图1a和图1b].术前初步诊断为Rathke裂囊肿，经蝶手术将肿瘤完全切除。组织病理学显示肉芽肿组织由胆固醇裂隙、淋巴浆细胞浸润、明显的含铁血黄素沉积和胆固醇裂隙周围的多核异物巨细胞组成[图1e,图1f,图1g].免疫组化染色显示CD68强阳性，S100和SMA阴性[图1h,图1i,图1j]，这与鞍区黄色肉芽肿的诊断一致。术后MRI扫描显示无残留肿瘤[图1c和图1d]，她的严重头痛很快得到改善，内分泌实验室检查表明所有结果都在正常范围内。最近一次随访MRI是在术后36个月扫描的，没有肿瘤复发的迹象。

致编者：毛细血管瘤（CH）作为一种血管良性肿瘤，在儿科人群中常见于全身皮肤或其他浅表软组织。脊髓硬膜内髓外毛细血管瘤（IDEMCH）是罕见的。根据Bouali最近的评论等人.，英文文献中仅报道了40例，^[1]在磁共振成像（MRI）上，现有肿块的大小通常在一个椎骨长度左右。在本文中，我们报告了第一例延伸超过两个椎体的马尾CH，并讨论了与这种疾病相关的诊断和治疗。