Objective To observe the effect of in situ needle fenestration thoracic endovascular aortic repair(TEVAR)for treating aortic dissection(AD)involving aortic arch.Methods Data of 16 patients with AD involving aortic arch who underwent in situ needle fenestration TEVAR for reconstruction of aortic arch branches were retrospectively analyzed,and the number of fenestration,technical success rate and TEVAR related complications were recorded.Regular follow-up was conducted after TEVAR,the repair of dissection and the patency of fenestrated branch blood vessels were evaluated,the endoleak was assessed,and the survival of patients were recorded.Results The main aortic stent was successfully implanted in all 16 cases.Among them,4 received triple fenestration stent implantation in zones Z0,Z1 and Z2,6 received double fenestration stent implantation in zones Z1 and Z2,2 received double fenestration stent implantation in zones Z0 and Z1 and 4 received single fenestration stent implantation in zone Z2.The success rate of brachiocephalic trunk(BCT)fenestration was 83.33%(5/6).Left common carotid artery(LCCA)-right common carotid artery bypass was performed in 1 case without successful fenestration.The success rate of LCCA fenestration was 100%(12/12).The success rate of left subclavian artery(LSA)fenestration was 87.50%(14/16),2 cases with not successful fenestration were treated with axillar-axillary artery artificial vascular bypass.The technical success rate of intervention was 100%(16/16).Type Ⅰa endoleak occurred in 1 case during TEVAR process and improved after embolization with spring coil.One patient died of pericardial tamponade at the end of TEVAR.Fifteen patients were followed up for a median follow-up time of 20 months.During this period,transient ischemic attack and local small dissection at the proximal beginning of the main stent occurred each in 1 case,which improved after no special treatment.Type Ⅰ endoleak occurred in 1 case,type Ⅲ endoleak occurred in 2 cases,all improved after proximal fenestrated membrane stent implantation or spring coil embolization treatment.One case died of coronary heart disease.Conclusion In situ needle fenestration TEVAR was effective and safe for treating AD involving aortic arch.

  Objective  To study the demographic and clinical characteristics, correlation of genotype and phenotype and treatment of Blau syndrome to facilitate early diagnosis and timely treatment of Blau syndrome.  Methods  Seventy-two patients with Blau syndrome from 11 centers from May 2006 to April 2022 were retrospectively analyzed, and their general information, clinical data, laboratory examination and treatment medication were collected.  Results  The distribution of patients with Blau syndrome was uniform in geographical north and south of China, and there was no obvious gender bias. The mean age of onset was (14.30±12.81) months, and the age of diagnosis was (55.18±36.22) months. 35% of patients with Blau syndrome happened before 1 year old, and all patients developed before 5 years old. 87.50% (63/72) had granulomatous arthritis, 65.28% (47/72) had rash, 36.11% (26/72) had ocular involvement, 27.78% (20/72) had fever, and 15.28% (11/72) had pulmonary involvement. Arthritic manifestations of Blau syndrome were most at risk, followed by rash, ocular involvement, and fever.The first 25 months of the disease, the risk of developing a rash was the greatest. The risk of developing arthritis was the greatest between 25 months and 84 months. The main mutations were p.R334Q and p.R334W, and patients with p.R334Q mutation had relatively high incidence of fever (35.71%[5/14] vs. 14.29%[1/7], P=0.43) and ocular involvement (42.86%[6/14]vs. 28.57%[2/7], P=0.51). There was a relatively high incidence of rash (85.71%[6/7] vs. 64.29%[9/14], P=0.59) in patients with the p.R334W mutation. Forty-five patients(62.50%)were treated with a combina-tion of glucocorticoid and methotrexate. Twenty-two patients were treated with tumor necrosis factor antagonist in addition to glucocorticoid and methotrexate.  Conclusions  The risk of different clinical manifestations of Blau syndrome from high to low was arthritis, followed by rash, ocular involvement and fever. The main treatment was glucocorticoid combined with methotrexate, to which biological agents could be added.

Epidemiological analysis describes and compares the characteristics of a certain number of people to make causal inferences. The formation of the study population is always the first step. In this paper, we first define the concepts of cross-sections at both individual level and population level and introduce the three assumptions needed in the measurements in observational studies, i. e. the true values of the attributes are stable with time, the attribute variables are independent and the individuals are independent during the measuring process. We also determine that the causal inference research should be unified based on the time of the occurrence or beginning of a postulated cause, or exposure, should be in. Then, based on the dual roles of the population cross-section with causal thinking, we propose that research designs can be classified into two types with different characteristics: history reconstruction research and future exploration research. Finally, we briefly analyze the research design framework and the relationship between estimated effects and different designs. The discussion of the formation of a study population from the perspective of causal thinking can make a foundation for the classification of causal inference research design with appropriate effect parameters, which needs to be further studied.

In causal inference, the concept of temporality (or directionality) has not been fully clarified. Starting from causal thinking, this paper divides the time axis in nature into three time domains and two time points by the occurrence timings of both a real cause and a real effect. This has anchored that causal inference can only be realized in the third domain. The measured temporalities can be divided into five types: cross-first-to-third-domain longitudinal (or experimental temporalities), cross-second-to-third-domain longitudinal, within-domain longitudinal, within-domain reversely longitudinal, and within-domain transversal (or observational temporalities). This new classification encompasses all measurement strategies, either for first or multiple measurements, or timely and delayed measurements. Except that the actual measurement for the cause occurs either before its occurrence (only in experiment) or within the second domain, all other measurements are similar to the act of historical reconstruction or "archaeology" , where the importance of measured temporalities may be inferior to the accuracy of the measurements. From the point of view that research design should integrate bias design, this new classification for measured temporalities based on the time axis in Nature, which has a clear meaning and helps to judge the possible biases in the observation methods, provides a basis for correct causal inferences.

Objective To investigate the application value of auditory mismatch negativity (aMMN) in evaluating the brain function of patients with chronic disorders of consciousness (DOC). Methods Thirty-three patients with DOC or escaped minimally conscious state (eMCS), admitted to our hospital from April to June 2018, were selected in this study. Based on the levels of consciousness assessed by Coma Recovery Scale-Revised (CRS-R), they were divided into vegetative state (VS) group, micro-consciousness state (MCS) group and eMCS group; 14 healthy subjects were included as control group. The differences of aMMN amplitude and latency in patients from different groups, patients with different etiologies and different lateral cerebra were compared. Pearson correlation analysis was used to determine the correlation between CRS-R scores and aMMN. Results (1) There was statistically significant difference in aMMN amplitude between patients from any two groups (P<0.05); as compared with that in the control group, the latency of VS group and MCS group was significantly increased (P<0.05). (2) According to the etiology, the aMMN amplitude of brain injury group, cerebral hemorrhage group and hypoxic encephalopathy group was significantly lower than that of control group (P<0.05). (3) There was significant difference in the amplitude of aMMN between lesion side and contralateral side in 11 patients (t=5.798, P=0.000). (4) Statistical results showed that CRS-R scores were positively correlated with aMMN amplitude (R=0.876, P=0.000), but not with the latency (r=0.018, P=0.922). Conclusion The amplitude of aMMN is significantly positively correlated with levels of consciousness in DOC patients, which can be used as an important tool to assess the levels of consciousness and dynamically estimate the outcomes of consciousness in DOC patients.

Objective: To explore the clinical characteristics, imaging feature, surgical outcomes, and prognosis of recurrent aneurysmal bone cysts (RABC) of the extremities. Methods: Between January 2008 and January 2016, 29 patients histopathologically diagnosed with RABC were treated at our hospital. These patients included 15 males and 14 females. The mean age at the time of diagnosis was 17.4 years(range 4-42 years). The most common site of the RABC was the proximal tibia (12 cases), followed by the distal femur (11 cases), and 3 cases each with involvement of the proximal humerus and the proximal femur. Recurrence was most commonly ob-served within 24 months following the initial treatment. Intralesional re-curettage was performed in 24 patients and en bloc resection of the tumor and reconstruction in 5 patients. The medial tibial stress syndrome (MTSS) score was used to evaluate postoperative func-tion of the affected limb, and the comprehensive clinical efficacy was evaluated on the basis of the Mankin criteria. Results: The mean follow-up duration was 64 months (range 24-90 months). Re-recurrence occurred in 1 patient with a total re-recurrence rate of 3.4%. The postoperative MTSS score was 26-30 points (mean 29.1 points) in the intralesional re-curettage group and 21-27 points (mean 23.0 points) in the tumor resection group. Based on the Mankin criteria, excellent and good clinical outcomes were observed in 95.8% of patients in the intralesional and 60% of the patients in the tumor resection and reconstruction groups. Conclusions: Regular follow-up is essential for the early diagnosis of RABC. The re-recurrence rate following intralesional re-curettage was within an acceptable range, and postoperative limb function was satisfactory; therefore, intralesional re-curettage is the treatment of choice for RABC in-volving the extremities. Tumor resection can be performed in patients with severe articular surface destruction and repeated recur-rence, although long-term complications may occur.

Objective To evaluate the prevalence of macrosomia in Beijing in 2013 and identify its risk factors. Methods Retrospective six months analysis of 14 188 full-term singleton pregnant women from 15 hospitals with different levels in Beijing in 2013. Each participant′s demographic data and medical information were collected individually by questionnaires. Multiple logistic regression analysis was used to examine the associations between variables and the risk of macrosomia. Results (1)The total prevalence of macrosomia was 7.069%(1 003/14 188) in Beijing in 2013. (2)The prevalence varied between the 15 hospitals, the lowest was 5.36%(89/1 659), while the highest reached 8.80%(46/523). Furthermore, the incidence of macrosomia was 1.284 times (95%CI: 1.114-1.480, P=0.001) higher in the second graded hospitals than that in the tertiary hospitals. (3) Multiple logistic regression analyses showed that risk factors for macrosomia were maternal height≥160 cm (adjusted OR=1.875, 95%CI: 1.559-2.256), pre-pregnant body mass index (p-BMI) ≥24.0 kg/m2 (24.0-27.9 kg/m2:adjusted OR=1.696, 95%CI: 1.426-2.018; p-BMI≥28.0 kg/m2:adjusted OR=2.393, 95%CI: 1.831-3.127), gestational weight gain (GWG)≥15.9 kg (adjusted OR=2.462, 95%CI: 2.125-2.853), gravidity>1 (adjusted OR=1.408, 95%CI: 1.224-1.620), gestational weeks≥40 (adjusted OR=2.007, 95%CI:1.745-2.308) and gestational diabetes mellitus (adjusted OR=1.522, 95%CI:1.298-1.784). GWG≥15.9 kg, p-BMI≥28.0 kg/m2 and gestational weeks≥40 were three risk factors that had the strongest associations with macrosomia (all P<0.01). Conclusions The prevalence of macrosomia in hospitals with different levels is obvious different. Gestational weeks, p-BMI and GWG are three main controllable risk factors for macrosomia, thus should receive more attentions.

Objective To explore the correlation between anaplastic lymphoma kinase (ALK) fusion gene detected by immunohistochemistry (IHC) and reverse transcription-polymerase chain reaction (RT-PCR) in non-small cell lung cancer. Methods The ALK fusion protein/gene in 71 patients of NSCLC which was detected both by IHC (1A4/1H7) and RT-PCR were retrospective studies, and the 2 methods were compared. Results Among the 71 NSCLC patients, the ALK fusion protein positive was in 21 cases and negative was in 50 cases by IHC detected, while the ALK fusion gene positive was in 12 cases and negative was in 59 cases by RT-PCR. The ALK fusion genes detected by RT-PCR were all negative when IHC negative and IHC 1+. All patients with IHC 2+ and IHC 3+ were confirmed ALK fusion genes positive with RT-PCR. The positive rate of ALK fusion protein detected by IHC in large surgical specimens was 28.95%(11/38), and the positive rate of ALK fusion protein detected by IHC in small biopsy specimen was 30.30%(10/33). The positive rate of ALK fusion gene detected by RT-PCR in large surgical specimens was 18.42%(7/38), and the positive rate of ALK fusion gene detected by RT-PCR in small biopsy specimen was 15.15% (5/33). Conclusions Although the ALK fusion protein detected by IHC may have certain false positive, IHC is highly consistent with RT-PCR in IHC 2+and IHC 3+ cases. The combination of IHC and RT-PCR can be used to ALK fusion gene positive NSCLC screening and diagnosis. The small biopsy specimen is also good material for ALK detection, when the surgical specimen can not be got from patients.

OBJECTIVE: To investigate the relationship between the severity of allergic asthma and the levels of atrial natriuretic peptide (ANP), and to analyze the potential role of ANP signaling in the pathogenesis of asthma.
 METHODS: We recruited 96 subjects, including 23 healthy volunteers, 25 stable allergic asthmatics, 21 mild allergic asthmatics and 27 moderate allergic asthmatics, from the Affiliated Hospital of Guilin Medical University. ANP, IFN-γ and IL-4 levels in serum were detected by enzyme-linked immunosorbent assay (ELISA), and the mRNA and protein expressions of natriuretic peptide receptor A (NPRA), transcription factor T-bet and GATA3 were measured by RT-PCR and Western blot.
 RESULTS: The levels of ANP in serum and the expressions of NPRA mRNA and protein in the peripheral blood mononuclear cell (PBMC) from the mild asthma group or the moderate group were elevated compared with those in the stable asthma group or the mild group, respectively (P<0.05). Consistently, expressions of GATA3 and levels of IL-4 showed the same tendency (P<0.05). In addition, levels of ANP in serum were positively correlated with the severity of asthma, whereas negatively correlated with the ratio of T-bet/GATA3 and IFN-γ/IL-4 (r=-0.85, P<0.05; r=-0.88, P<0.05, respectively).
 CONCLUSION Levels of ANP signaling in serum were significantly increased with the severity of allergic asthma, suggesting a close relation with the pathogenesis of asthma; ANP signaling may play a role in the pathogenesis of allergic asthma through inducing the Th2-type immune response.
Asthma ; Atrial Natriuretic Factor ; Enzyme-Linked Immunosorbent Assay ; Fetal Proteins ; GATA3 Transcription Factor ; Humans ; Hypersensitivity ; Interleukin-4 ; Leukocytes, Mononuclear ; RNA, Messenger ; Receptors, Atrial Natriuretic Factor ; Signal Transduction ; T-Box Domain Proteins

Objective To explore and analyze the timing and postoperative effect of proximal femoral nail anti-rotation( PFNA) for the treatment of elderly femoral intertrochanteric fracture. Methods From September 2011 to March 2013, there were 36 elderly patients with femoral intertrochanteric fractures in our hospital, including 6 cases of type A1, 16 cases of type A2, and 14 cases of type A3. All the 36 pa-tients received PFNA and systematic rehabilitation exercise. Treat the underlying disease and strengthen the nursing to prevent thrombosis at the same time. Hip joint function was evaluated by the Harris score system. Results The average hospitalization of patients is 4 weeks. The wound healing was good in 30 cases and wound infection occured in 2 cases who recovered after subsequent treatment, and the other 4 pa-tients died due to complicated internal medicine diseases. 21 cases of patients were followed up,and their hip joint function recovered well according to the Harris score system, including 12 cases of excellent, 6 cases of good, and 3 cases of eligible, with an excellent and good rate of 85%. Conclusion The application of PFNA for the treatment of elderly femoral intertrochanteric fractures has the advantages of less damage to the local blood supply and better recovery of fracture healing and hip joint function, which is an ideal treatment for the elderly pa-tients with femoral intertrochanteric fractures.