Objective To investigate the correlationbetween thecarcinoembryonic antigen ( CEA) level and hypoxic status of breast cancer, and itspotential of being a prognostic factor in breast cancer. Methods Breast cancer cell line MDA-MB-231 was cultured under hypoxic or normoxic condition to determine the protein level of CEA using Western blotting.30 breast cancer tissue sections were collected in Tianjin Medical University Cancer Institute and Hospital from April 2013 to June 2015.and were detected the expression of CEA, hypoxia-inducible factor-1α( HIF-1α) and carbonic anhydrase-9 ( CA-9 ) by immunohistochemistry.Serum CEA were detected by immunofluorescence assay of 166 breast cancer patients collected from April 2009 to June 2011.The correlation between the expression levels of CEA and breast cancer patients'clinical data was analyzed by Logistic univariate analysis.Kaplan-Meier method was employed to calculate the progression-free survival of patients with breast cancer. Log-rank test was conducted to compare the difference between groups.Results CEA levels were significantly higher in breast cancer cells under hypoxic condition in a time-dependent manner, compared to normoxiccontrol. Immunohistochemical staining indicated that CEA was coexpressed with HIF-1αand CA-9 in breast cancer and linear regression analysis revealed that CEA expression correlated with HIF-1α( P =0.0096 );Preoperative serum levels of CEA were closely related with tumor size ( P =0.015 ) andLymph node metastasis(P=0.032); CEA positive patients achieved a progression-free survival of 29.85months(versus 39.08 months in CEA negative patients, P=0.003).Conclusions Hypoxia upregulates CEA expression in breast cancer and the levels of preoperative serum CEA is a potential prognostic factor ofbreast cancer.

Objective To explore application value of 16 detecter spiral CT angiography for dissecting aneurysm of aorta .Meth-ods Retrospectively analyzed 9 cases of patients with the dissection of superior mesenteric artery in admission from January 2010 to December 2012 ,the cases were diagnosized by 16 detecter spiral CT angiography for dissecting aneurysm of aorta .post-process-ing techniques such as maximum density projection ,multi-plane reorganization and curved surface reconstruction and volume were used analyzed and diagnosized .Results These pathological changes such as superior mesenteric artery sandwich of true ,false cavity and inner diaphragm ,broken mouth position ,sandwich cumulative range and whether merger thrombus ,branch vascular involve-ment could be displayed by 16 detector CT vascular imaging and post-processing technology .Conclusion 16 layer detector CT ima-ging and post-processing techniques of blood vessels could clearly show the mesenteric artery sandwich ,which might be play an im-portant role for timely and accurate diagnosis .

Objective To assess the correlation of newly fracture and spinal sagittal parameters.Methods From March 2011 to December 2014,80 patients of osteoporosis vertebral compression fracture treated by PVP as observation group were studied.The whole-spine anteroposterior view and lateral view XRay Photographes of the patients were taken,the sagittal parameters such as Pelvic index (PI),sacral slope (SS),pelvic tilt (PT),thoracic kyphotic angle(TK),lumbar lordotic angle(LL),the C7/SFD ratio were recorded.The whole cases were divided into two groups according to the presence of new fracture or not after the last followup of one year,the index of two groups were compared,and the risk factors of newly vertebral compression fractures were analysed.Results There were no statistically significant difference in gender,age,body mass index,BMD,PI,TK,LL between the two trea ted groups (P＞0.05);there were statistically significant difference in SS,PT and the C7/SFD between the new vertebral fracture group and the control group (P＜0.05).The analytic results of Logistic regression model showed that the smaller SS,larger TK and C7/SFD were risk factors of newly vertebral compression fractures.Conclusion The newly occurred vertebral compression fractures,after the primary treatment of PVP,are associated with changed spinal sagittal parameters.

BACKGROUND:Recent report addressing new vertebral fracture after vertebroplasty or bal oon kyphoplasty has increased gradual y. It remains controversial whether new vertebral fracture is induced by bone cement augmentation or osteoporosis.
OBJECTIVE:To observe new vertebral fracture after conservative treatment and bone cement augmentation for osteoporotic vertebral compression fractures, analyze the relationship between new vertebral fracture and spinal sagittal parameters, and explore the risk factors for new vertebral fracture.
METHODS:From June 2011 to December 2014, 160 patients with osteoporotic vertebral compression fractures in thoracic and lumbar vertebrae were selected from the Department of Spine Surgery, the Affiliated Hospital of Chengde Medical Col ege. According to therapeutic regimen, the patients were divided into two groups. The observation group (n=80) received vertebroplasty or kyphoplasty. The control group (n=80) underwent conservative treatment. At 1 day after surgery in the observation group and after walking in the control group, patients were subjected to anteroposterior and lateral X-ray in the entire length of the spine. Bone mineral density, number and location of new vertebral fractures and sagittal parameters during fol ow-up were recorded and compared between groups. After final fol ow-up, according to the appearance of new vertebral fracture, patients in both groups were assigned to two subgroups. The difference in above indicators was compared between the two subgroups. The relationship between new vertebral fracture and spinal sagittal parameters was analyzed.
RESULTS AND CONCLUSION:(1) There were no statistical y significant differences in gender, age, body mass index, bone mineral density, pelvic index, sacral slope, pelvic tilt, thoracic kyphotic angle, lumbar lordotic angle, C7/sacro-femoral distance ratio and occurrence rate of new fractures between the two treated groups (P>0.05). (2) There were no statistical y significant differences in gender, age, body mass index, pelvic index, and lumbar lordotic angle between new vertebral fracture group and non-fracture group. There were statistical y significant differences in bone mineral density, sacral slope, pelvic tilt, thoracic kyphotic angle and the C7/sacro-femoral distance between the new vertebral fracture group and the control group (P<0.05). (3) Results confirmed that new vertebral compression fractures after vertebroplasty, Kyphoplasty or conservative treatment for osteoporotic vertebral compression fractures were definitely associated with osteoporosis and spinal sagittal imbalance.

BACKGROUND:Sagittal imbalance induced by vertebral osteoporotic fractures has not been paid enough attention in previous studies.
OBJECTIVE:To assess the correlation of osteoporotic vertebral compression fracture and spinal sagittal imbalance.
METHODS:Sixty patients with old osteoporotic vertebral compression fracture, who were treated in the Department of Spine Surgery, the Affiliated Hospital of Chengde Medical Colege from February 2013 to August 2015, were enroled in this study as the observation group. Sixty healthy old people from physical examination center were enroled as the control group. The whole-spine anteroposterior and lateral X-ray films were taken in both groups. The number and the location of fractured vertebrae were recorded. Sagittal parameters of both groups including thoracic kyphotic angle, lumbar lordotic angle, T1-spinopelvic inclination angle and the C7plumb line/sacro-femoral distance (PL/SFD) ratio were measured and compared among groups. The observation group was dividedinto three subgroups according to the number of fractured vertebrae,i.e., single-vertebrae fracture subgroup, double-vertebrae fracture subgroup and above triple-vertebrae fracture subgroup. The C7PL/SFD ratio of the three subgroups was compared. The correlation between the number of fractured vertebrae and the C7PL/SFD ratio was analyzed.
RESULTS AND CONCLUSION:(1) The thoracic kyphotic angle of the observation group was bigger than that of the control group (P< 0.05). The lumbar lordotic angle of the observation group was smaler than that of the control group (P< 0.05). The absolute value of the T1-spinopelvic inclination angle of the observation group (-1.81±1.48)° was smaler than that of the control group (-3.35±1.22)° (P< 0.05). The C7PL/SFDratio of the observation group was significantly bigger than that of the control group (P< 0.05). (2) In the observation group, there were 4 cases of single-vertebrae fracture, 25 cases of double-vertebrae fracture and 31 cases of above triple-vertebrae fracture. Significant differences in the C7PL/SFD ratio were determined among subgroups (P< 0.05). The number of fractured vertebrae was positively correlated with the C7PL/SFD ratio; the correlation coefficient was 0.747. (3) Results indicated that osteoporotic vertebral compression fracture can change spinal local sagittal alignment. Multiple compression fractures of vertebrae can cause spinal sagittal imbalance. The gravity center of human body shifts forward. The number of fractured vertebrae was positively correlated with the range of shift forward.

Objective:To compare the clinical efficacy of high frequency oscillatory ventilation (HFOV) and conventional mechanical ventilation (CMV) in the treatment of infants with severe respiratory syncytial virus (RSV) pneumonia.Methods:A prospective randomized controlled trial was conducted. The infants with severe RSV pneumonia who received invasive mechanical ventilation admitted to intensive care unit (ICU) of Children's Hospital Affiliated to Capital Institute of Pediatrics from January 2018 to December 2019 were enrolled. According to the order of admission, each infant was assigned to HFOV group or CMV group by random number table. The basic data, pediatric critical score, blood gas analysis, ventilator parameters, oxygenation index [OI, OI = mean airway pressure (Pmean)×fraction of inspired oxygen (FiO 2)/arterial partial pressure of oxygen (PaO 2)×100], duration of mechanical ventilation, length of ICU stay, complications, prognosis, use of muscle relaxants and vasoactive drugs and other clinical indicators of the two groups were recorded. Results:A total of 28 infants were enrolled in the analysis, including 15 infants receiving CMV and 13 infants receiving HFOV. There were no significant differences in age, body weight, pediatric critical score and OI before enrollment, type Ⅱ respiratory failure, multiple organ dysfunction, basic diseases and laboratory examination indexes before enrollment between the two groups. Six hours after enrollment, compared with CMV group, heart rate (HR), respiratory rate (RR), case of transcutaneous oxygen saturation (SpO 2) decrease, case of HR decrease, case of cardiopulmonary resuscitation (CPR) and OI in HFOV group were significantly decreased [HR (bpm): 130 (125, 138) vs. 144 (140, 160), RR (times/min): 35 (34, 38) vs. 40 (35, 45), SpO 2 decrease (case: 1 vs. 10), HR decrease (case: 0 vs. 6), CPR (case: 0 vs. 4), OI: 6.5 (4.4, 8.9) vs. 9.3 (8.0, 12.8)], while case of use of muscle relaxants (case: 3 vs. 0) and volume of 7-day positive fluid balance [mL/kg: 167.1 (113.8, 212.6) vs. 90.8 (57.8, 112.7)] were significantly higher, the differences were statistically significant (all P < 0.05). There was no use of blood purification treatment, no severe complications such as pneumothorax and intracranial hemorrhage, and no death within 28 days in the two groups. Conclusion:Compared with CMV, HFOV in the treatment of infants with severe RSV pneumonia can improve the oxygenation level and clinical physiological indexes earlier, reduce the incidence of adverse events such as HR, SpO 2 decrease and CPR, increase the use of muscle relaxants and the positive fluid balance, and do not increase the incidence of severe complications such as pneumothorax and intracranial hemorrhage, so its clinical application is safe.

Objective To investigate the effect of CDT1 gene over-expression on the apoptosis and cell cycle distribution in liver cells with a characteristic of genomic instability induced by radiation(GIR).Methods Lentivirus particles were transferred into liver cells of GIR to up-regulate the expression of CDT1 gene.The apoptosis and the cell cycle were detected by flow cytometry (FCM).The expression changes of p53,ATM,ATR,Bcl-2,and Caspase-3 genes were analyzed by real-time fluorescence quantitative PCR.Results CDT1 gene was efficiently increased by the gene transfection(t =15.56,P ＜ 0.05).In the CDT1 over-expressed cells,while the apoptosis ratio was increased (t =4.19,P ＜ 0.05),the expressions of p53 and Bcl-2 gene were decreased (t =-4.21,-2.06,P ＜ 0.05),but the expression of ATM,ATR and Caspase-3 changed with no significant difference compared with control.Conclusions Over-expression of CDT1 could regulate genomic instability through apoptosis pathway and checkpoint independent of p53.

Objective:To investigate the expressions of CD200 and inducible costimulator (ICOS) protein in angioimmunoblastic T-cell lymphoma (AITL) and the relationship with prognosis as well as their significances in the differential diagnosis of AITL.Methods:A total of 39 AITL patients in the First People's Hospital of Chenzhou, the Fourth People's Hospital of Chenzhou, Xiangnan College Affiliated Hospital and Chenzhou 3rd People's Hospital from June 2012 to December 2019, and 10 patients with classic Hodgkin lymphoma (CHL) and 10 patients with peripheral T cell lymphoma, not otherwise specified (PTCL-NOS) from August 2016 to July 2019 in the First People's Hospital of Chenzhou were selected. Immunohistochemistry was used to detect the expressions of CD200, ICOS, CD10, programmed death 1 (PD-1), bcl-6 and CXC chemokine receptor-13 (CXCL13) proteins, and the correlation of CD200 and ICOS with clinicopathological features and prognosis of AITL patients was analyzed, and the diagnostic significance of both in differentiating AITL from PTCL-NOS and CHL was also analyzed.Results:The positive rates of CD200 and ICOS in 39 AITL patients were 71.79% (28/39) and 61.54% (24/39), respectively. There were 7 cases of CD200 weak and moderate positive in 10 CHL patients, and ICOS proteins were all negative. Among 10 PTCL-NOS patients, 4 patients had CD200 positive and 1 patient had ICOS positive. The differences in positive rates of ICOS protein between AITL patients and CHL, PTCL-NOS patients were statistically significant (all P < 0.05); the differences in positive rates of CD200 protein between AITL patients and CHL, PTCL-NOS patients were not statistically significant ( χ2=0.013, P=0.911; χ2=3.551, P=0.060). The positive rate of CD200 in AITL patients with elevated lactate dehydrogenase (LDH) and international prognostic index (IPI) score of 3-4 was higher than that in AITL patients with normal LDH and IPI score of 0-2 (both P < 0.05); The positive rate of ICOS in AITL patients with elevated LDH and PD-1 positive was higher than that in AITL patients with normal LDH and PD-1 negative (both P < 0.05). CD200 negative AITL patients had better 3-year overall survival (OS) rate (4.2% vs. 66.7%) and 3-year progression-free survival (PFS) rate (5.3% vs. 77.1%) compared with those in CD200 positive AITL patients, and the differences between both groups were statistically significant (both P < 0.01); there was a statistically significant difference in 3-year OS rate between ICOS positive AITL patients and ICOS negative AITL patients (15.3% vs. 38.6%, P=0.011), while there was no statistically significant difference in 3-year PFS rate of both groups (18.6% vs. 41.5%, P=0.059). Multivariate analysis showed CD200 ( HR=0.076, 95% CI 1.555-79.497, P=0.001), extranodal involvement or not ( HR=11.117, 95% CI 1.555-79.497, P=0.016) and LDH ( HR=2.147, 95% CI 0.844-5.459, P=0.109) were independent influencing factors of OS in AITL patients; CD200 ( HR=0.075, 95% CI 0.016-0.357, P=0.001) and LDH ( HR=2.335, 95% CI 0.929-5.870, P=0.071) were independent influencing factors of PFS in AITL patients. Conclusions:CD200 and ICOS can be used as immunohistochemical indicators to assist the diagnosis of AITL patients. ICOS protein helps to differentiate AITL from CHL and PTCL-NOS; CD200 can be used as indicators to judge the prognosis and deterioration of AITL patients.

OBJECTIVE: To explore the correlation between clinical phenotypes and pathogenic variants in two patients with familial hypercholesterolemia. METHODS: Both patients were subjected to whole exome sequencing (WES) with a focus on the analysis of genes associated with dyslipidemia. Candidate variants were verified by Sanger sequencing of the patients and their family members. RESULTS: WES revealed that the proband 1 has harbored two heterozygous variants of the LDLR gene, namely c.1360G>A (p.D454N) and c.292G>A (p.G98S), whilst proband 2 has harbored a heterozygous c.321T>G (p.C107W) variant of the LDLR gene. Based on the guidelines from the American College of Medical Genetic and Genomics (ACMG), the above variants were respectively predicted to be likely pathogenic (PM1+PM2+PP2+PP3+PP4+PP5), variant of unknown significance (PM1+PP2+PP3), and likely pathogenic (PM1+PM2+PP2+PP4+PP5). Treatment with PCSK9 inhibitor has attained a significant effect in proband 1 but no apparent effect in proband 2. CONCLUSION Variants of the LDLR gene probably underlay the familial hypercholesterolemia in the two pedigrees. The difference in the severity of the clinical phenotypes and response to PCSK9 inhibitor treatment between the two probands may be attributed to the different genotypes of the LDLR gene. Genetic testing not only can provide a basis for clinical diagnosis, but also facilitate the choice of lipid-lowering drugs.
Humans ; China ; Hyperlipoproteinemia Type II/genetics* ; Phenotype ; Receptors, LDL/genetics*

OBJECTIVE: To explore the genetic basis for a patient with Dilated cardiomyopathy. METHODS: A patient admitted to Beijing Anzhen Hospital Affiliated to Capital Medical University in April 2022 was selected as the study subject. Clinical data and family history of the patient was collected. Targeted exome sequencing was carried out. Candidate variant was verified by Sanger sequencing and bioinformatic analysis based on guidelines of the American College of Medical Genetics and Genomics (ACMG). RESULTS: DNA sequencing revealed that the patient has harbored a heterozygous c.5044dupG frameshift variant of the FLNC gene. Based on the ACMG guidelines, the variant was predicted to be likely pathogenic (PVS1+PM2_Supporting+PP4). CONCLUSION The heterozygous c.5044dupG variant of the FLNC gene probably underlay the pathogenesis in this patient, which has provided a basis for the genetic counseling for his family.
Humans ; Cardiomyopathy, Dilated/genetics* ; Genetic Testing ; Genetic Counseling ; Computational Biology ; Frameshift Mutation ; Mutation ; Filamins