NKX6-2 encodes a transcription factor involving the genesis and development of oligodendrocytes.Mutations in the NKX6-2 gene are related to a severe variant of hypomyelinating leukodystrophy, namely the NKX6-2-related spastic ataxia type 8 (SPAX8). As of March 24, 2020, there are 36 cases of SPAX8 involving 11 mutations of the NKX6-2 gene, which has not been reported in Chinese population.This article for the first time reported a 31-month-old Chinese boy diagnosed as SPAX8 caused by a novel mutation of the NKX6-2 gene at c. 234dup(p.Leu79Alafs*? ) admitted to the Department of Rehabilitation, Guangdong Women and Children Hospital in October 2019 retrospectively.He presented severe global psychomotor delay, spasticity, nystagmus, hearing impairment and trichiasis, ametropia of both eyes, and retinal degeneration of the right eye, which have not been reported in previous cases.His elder sister presented relevant manifestations, but did not perform the genetic testing.Through this case report and literature review, the genotype and phenotype of SPAX8 were expanded.

Objective:To retrieve and obtain the relevant evidence for in-hospital exercise rehabilitation in patients with acute myocardial infarction (AMI) after percutaneous coronary intervention (PCI) and to summarize the best evidence.Methods:By applying evidence-based nursing method, the relevant evidence of in-hospital exercise rehabilitation in AMI patients after PCI in domestic and foreign databases was retrieved by combining computer and manual methods, including guidelines, evidence summary, clinical practice guidelines, systematic reviews, randomized controls test and so on. The retrieval time was from the establishment of the database to December 1, 2019. A total of 4 evidence-based groups independently conducted literature quality evaluation, and the controversial content was ruled by the hospital evidence-based group, and the evidence was extracted. Appraisal of guidelines research and evaluation (AGREEⅡ) and literature evaluation criteria and evidence grading system of Australia Joanna Briggs Institute (JBI) Evidence-based Health Care Center were respectively used to evaluate quality of literature and grade the various studies.Results:A total of 15 articles were included, including 4 guidelines, 1 evidence summary, 1 systematic evaluation and 9 randomized controlled trials. Finally, 20 pieces of best evidence of in-hospital exercise rehabilitation in AMI patients after PCI were summarized.Conclusions:This study summarizes best evidence for in-hospital exercise rehabilitation of AMI patients after PCI, which can provide an evidence-based basis for clinical practice. However, in the actual implementation process, it should be carried out step by step on the premise of ensuring the safety of patients by combining the cultural background of patients and the level of medical institutions.

BACKGROUND: Malignant plural effusion (MPE) is one of the most common specimen for liquid biopsy gene detection. This study aims to explore a method for isolating tumor cells from large volume of MPE and evaluate its efficacy and application prospect in gene detection. METHODS: Pleural effusions (>500 mL) from 20 advanced lung cancer patients were obtained by effusion drainage and used to isolate tumor cells with cell separation media Percoll and Ficoll. Cell number and purity were calculated. DNA was extracted from the supernatant (etDNA), total cells and isolated tumor cells of pleural effusion (ETC-DNA) to detect the mutation of tumor-related genes by next-generation sequencing. RESULTS: The median number of cells isolated from malignant pleural effusion was 8.50×10⁴ (interquel range: 9.25×10³-3.75×10⁵), 85.50%±5.80% of the cells were identified as tumor cells. The detection rates of epidermal growth factor receptor (EGFR) gene mutation of etDNA, total cell DNA and ETC-DNA were 70.00%, 50.00% and 70.00%, reseparately, while the median EGFR mutation abundance in 3 components was 16.05% (4.78%-43.06%), 1.09% (0.00%-2.39%), and 33.02% (18.50%-76.70%), respectively. ETC-DNA had good consistency with tissue DNA (P>0.999, kappa=1.000) and etDNA (P>0.999, kappa=1.000). ETC-DNA inclined to have higher EGFR mutation than etDNA, but the result was not statistically significant. CONCLUSIONS Our method can isolate large amount of tumor cells from a large volume of malignant pleural effusion with high purity. Using ETC-DNA as specimen improves the efficacy of gene detection, thus is worth further study.

Objective:To review the clinicopathological characteristics and analyze the prognostic factors of hepatoid adenocarcinoma of stomach(HAS).Methods:From August 2012 to June 2017,30 patients with HAS were diagnosed in Daycare of Peking University Cancer Hospital.Clinicopathological data and follow-up information of these patients were retrospectively collected and analyzed.Re-sults:The median age of these 30 patients was 58 years at diagnosis,with a male-to-female ratio of 2.75:1.Twenty-nine patients were confirmed to have lymph node metastases and 7 patients had distant metastases.Ten patients died because of the cancer within the follow-up period.The 1-and 3-year survival rates were 60% and 52%,respectively.Cox multivariate regression revealed that elevated serum CA199 levels,higher lymph node staging,not having undergone radical surgery,and stronger immunohistochemical(IHC)stain-ing intensity of alpha fetoprotein(AFP)were independent poor prognostic factors.Conclusions:Elevated serum CA199 levels,lymph node staging,and IHC staining intensity of AFP are verified in this study as independent risk factors of poor outcome in HAS patients. Early detection and diagnosis of the disease may improve the clinical prognosis.Multidisciplinary team discussions are important in making therapy decisions and radical surgery should be performed whenever possible.

Objective To investigate the difference of niacin skin flush response between patients with major depressive disorder (MDD) and healthy controls (HCs), and its sensitivity and specificity for the diagnosis of MDD. Methods Twenty-one untreated patients with MDD and 28 age- and gender-matched HCs were enrolled in this study. The severity of depressive symptoms was assessed mainly by using the 17-item Hamilton Depression Rating Scale (HDRS-17). Methyl Nicotinate (MN) solution at 8 different concentrations (10-5 mol/L, 10-4 mol/L, 10-3.5 mol/L, 10-3 mol/L, 10-2.5 mol/L, 10-2 mol/L, 10-1.5 mol/L, 10-1 mol/L) were applied on subjects' forearms. Signals of blood flow were collected using the Doppler Laser Flowmetry to detect the skin flushing of the test. Results Under the concentrations of 10-2.5 mol/L, 10-2 mol/L, 10-1.5 mol/L and 10-1 mol/L MN solution, the blood flow was significantly higher in depressive patients than in HCs (P<0.01). The MN sensitivity (logEC50) was inversely correlated to the severity of depressive symptoms (r=-0.57, P<0.05). ROC curve analysis implied that the maximum blood flow (MBF) caused by the niacin skin flush response, could efficiently discriminate MDD from HCs (AUC=0.90, P<0.01). Conclusion The presence of enhanced niacin skin flush response may be helpful in the diagnosis of MDD.

Objective To study the effect and mechanism of down-regulating Silt2/Robo 1 signaling pathway on rabbit iliac artery after angioplasty restenosis. Methods The 30 male New Zealand white rabbits were divided randomly into 3 groups , namely the blank group , the control group , and the experimental group , 10 rabbits in each group. Hign-fat feeding , the rabbits were produced endothelial denudation of iliac artery stenosis model. Another 4 weeks of feeding , percutaneous balloon angioplasty was performed. Then R5 antibody was injected into the abdominal cavity. After 4 weeks of feeding ,angiography again. The results of angiography was analysied by image workstation. The concentrations of Slit2 and Robo1 was detected by ELISA. The iliac artery tissue examined by HE staining. Results The rabbit iliac artery after angioplasty restenosis animal model was set up successfully. Compared with the control group and the experimental group , the serum concentration of Slit2 and Robo1 were significantly higher (P < 0.01) than the blank group. But in the experimental group, the Slit2 and Robo1 serum concentrations were significantly lower than those in the control group (P < 0.05) after R5 antibody intervention. The area ratio stenosis and diameter stenosis rate of iliac artery were reduced that confirmed by angiography. Conclusion The expression of Slit2/Robo1 was significantly higher in the rabbit model of vascular restenosis. R5 antibody can effectively inhibit the expression of Slit2/Robo1. Down regulation of Slit2/Robo1 signaling pathway in the treatment of restenosis after angioplasty in rabbits.

Objective To study the effect of cardiac resynchronization therapy (CRT) on the cardiac function and arrhythmias of patients with chronic heart failure and left ventricular systolic dyssynchrony. Methods Thirty-two cases of patients with chronic heart failure and left ventricular systolic dyssynchrony underwent CRT therapy. And LEVESV, LVEDV, LVEF, LVEDD, MRA, LAA, MRA/LAA were detected by echocardiography while the cardiac function was kept stable. Then the left ventricular systolic 12 segment peak time (Ts) was measurements by tissue doppler in all patients, the poor (Ts-maxD) and standard deviation (Ts-SD) were also calculated. The 24-hour ambulatory 12-lead ECG was took postoperation. All the patients were treated by anti-heart failure drugs after CRT pacemeker implantantion. All these indicators were assessed again at 12 weeks later. Results Compared with the previous CRT pacemaker implantation, LVEF, LV dp/dpsignificantly increased (P < 0.05). LEVESV, Ts-maxD, Ts-SD, MRA, MRA/LAA markedly declined (P < 0.05). But no statistical significance was found between the preoperative and postoperative CRT (P>0.05). Atrial premature beats and paroxysmal atrial tachycardia were significantly reduced in the preoperative CRT (P < 0.05). No significant differences were found in atrial fibrillation, ventricular premature beats and paroxysmal supraventricular tachycardia between the preoperative and postoperative CRT (P > 0.05). Conclusion CRT resynchronization therapy can improve left ventricular systolic function, and reduce the MRA and Ts. The mechanism may be associated with the improvement of left ventricular synchrony, reducing mitral regurgitation, and reducing the occurrence of atrial arrhythmias.

BACKGROUND:Displacement of the distal fracture fragment is one of the most important facts that lead to cubitus varus fol owing pediatric supracondylar humeral fracture. Mainstream technique emphasized the restoration of posterior-ulnar deviation of the distal fragment. However, there is an absence of supportive evidences from biomechanical studies. OBJECTIVE:To establish models of extension-ulnar type of supracondylar humeral fracture and investigate the mechanical stability of reduced fracture with residual displacements within functional restoration standard, so as to provide mechanic evidences supporting the empirical rule of manipulative reduction-“better anterior than posterior, better radial than ulnar”. METHODS:The fresh cadaveric bone of right upper extremity from a 7-year-old child was scanned using CT. Models of supracondylar humeral fracture differing in contact area of the fracture site and displacement direction of the distal fragment were established and underwent loading tests. Stress in both anterior and posterior margin of the fracture site and Baumann angle were recorded, and data were analyzed and compared. RESULTS AND CONCLUSION:In comparison of stress in the posterior margin, the value was significantly greater in the posteromedial-displacement group than the others. Stress value in fracture with 75%contact area was significantly greater than the other three groups. In comparison of stress in the anterior margin, a significantly greater value was obtained in the posteromedial-displaced group. Stress value in fracture with 85%contact area was significantly greater. When comparing stress in posterior margin and anterior margin, the absolute increment of stress value was greater in posterior displacement group than in anterior displacement group. Baumann angle increased significantly when fragment displaced medial y. Above findings indicated that displacement direction altered the location of stress concentration. Stress augmentation was greater in posterior displacement group. Stress in related area significantly increased constantly when contact area of the fracture site reduced. Baumann changed obviously when fragment displaced medial y. The results preliminarily verify the hypothesis that displacement of the distal fragment was the main contributor to cubitus varus fol owing supracondylar humeral fracture. These findings provided certain evidences supporting the empirical rule“better anterior than posterior, better radial and ulnar”.

ObjectiveTo investigate the inhibitory effect of dacarbazine and an oncolytic adenovirus carrying interleukin-24 (IL-24) on transplanted melanoma in nude mice.MethodsNude mice were inoculated with human A375 melanoma cells to establish a model of malignant melanoma.Then,the mice were divided into 4 groups to be treated with an oncolytic adenovirus carrying interleukin-24 (ZD55-IL-24),dacarbazine,the combination of ZD55-IL-24 and dacarbazine,and phosphate buffer(PBS),respectively,for 3 days.Seven days after the end of the treatment,some mice were sacrificed followed by the determination of IL-24 and E1A protein levels in tumor tissue by Western blot.The tumor volume was measured on a daily basis for 30 days.ResultsIL-24 and E1A were highly expressed in melanoma cell-bearing nude mice treated with ZD55-IL-24 and dacarbazine.At 30 days after the inoculation,the average volume of transplanted melanoma was (2346.5 ± 576.0) mm3 in the combination group,significantly different from that in the ZD55-IL-24 group((4141.6 ± 1348.2) mm3,P ＜ 0.05),dacarbazine group((5230.1 ± 922.8) mm3,P ＜ 0.05),and the control group ((7135.1 ± 1002.3) mm3,P ＜ 0.05).ConclusionThe ZD55-IL-24 in combination with dacarbazine exhibits a remarkably inhibitory effect on the proliferation of melanoma transplanted into nude mice.

Objective To investigate the status of diabetes in fasting state on different therapies.Methods 244 type 2 diabetic patients were divided into four groups according to different insulins:60 for insulin pump group(A),64 cases for insulin glargine group(B),59 cases for microinjection pump group(C),61 cases for isophane insulin suspension group.Then the time when blood glucose was up to standard,the usage of insulin and the rate of hypoglycemia were abserved.Results A group was(2.89 ± 1.32)d on the time when blood glucose was up to standard,B group was(3.14 ±1.25)d,C group was(4.91 ±2.81)d and D group was(5.62 ±2.52)d.There were significant differences between A and other groups( P ＜ 0.05 ) on time.There were significant differences between B and C group,B and D group,but there was no difference between C and D group.A group was(30.61 ±2.21) IU/don the usage of insulin,B group was ( 31.12 ± 3.38 ) IU/d,C group was ( 42.25 ± 4.01 ) IU/d and D group was (44.31 ±3.22)IU/d.There were significant differences between A and C group,A and D group,B and C group,B and D group(P ＜0.05)on usage of insulin,but there were no differences between A and B group,C and D group.A group was 3.3％ on the rate of hypoglycemia,B group was 4.7％,C group was 15.2％ and D group was 16.4％.There were significant differences between A and C group,A and D group,B and C group,B and D group ( all P ＜ 0.05 ) on usage of insulin,but there were no differences between A and B group,C and D group.Conclusion Compared to other insulin therapies,insulin pump had obviously superiority,which could be generalized to diabetics in fasting state.