Objective To investigate the expression of anionic site in adriamycin-induced nephropathy (AN) rats, and to further explore the effects of Qufengtongluo Recipe on charge barrier in glomerulus in AN rats. Methods Adriamycin nephropathy was induced by a single tail intravenous injection of adriamycin. Totally 80 rats were randomly divided into normal control group and nephropathy model group. Three weeks later, the nephropathy model was established, and 50 AN rats were randomly divided into five groups: nephropathy model group (B, n=10), Qufeng group (C, n=10), prednisone and Qufeng group (D, n=10), prednisone group (E, n=10) and benazepri group (F, n=10), and they were treated respectively. With treatment being given respectively, renal tissue samples in each group were collected at week 3 and 7, respectively. The ultrastructure and expression of anionic site were examined by electron microscope observation. Results ① After adriamycin injection, a significant increase of the 24-hour urinary protein was observed at week 3 (P<0.01). In AN rats, serum albumin was decreased (P<0.01) while serum TCH and TG were increased (P<0.01). ② In AN rats the diffuse fusion and effacement of foot processes and decrease of anionic sites in GBM were observed at week 3. ③ At week 7, the average intensity of AS dramatically increased in C and E groups (P<0.01) compared with that in nephropathy model group. Conclusion The abnormal expression of AS is the important mechanism that leads to the occurrence and development of proteinuria in AN rats. It is possible that Qufengtongluo Recipe has effects on nephrotic syndrome through altering the charge barrier in GBM in glomerulus.

Objective To investigate the expression of nephrin mRNA in adriamycin-induced nephropathy (AN) in rats, and to explore the effect of Qufengtongluo recipe on proteinuria in AN rats and on the expression of nephrin mRNA. Methods Adriamycin nephropathy was induced by a single tail intravenous injection of adriamycin. We randomly divided 140 rats into a normal control group (n=32) and a nephropathy model group (n=108). Three weeks later, 90 AN rats were randomly divided into 5 groups: a model group, a qufeng group, a qufeng and prednisone group, a prednisone group, and a benazepri group (18 rats in each group). They were treated respectively, and renal tissue samples were collected at week 0, 3, 5, and 7, respectively. The distribution and expression of nephrin mRNA were examined by indirect immunofluorescence and semi-quantity RT-PCR. Results In the AN rats, the diffuse fusion and effacement of foot processes were observed at week 3. The fluorescence intensity of nephrin and the expression of nephrin mRNA significantly increased in the qufeng group and the prednisone group compared with the model group at the week 7 (P＜0.01).Conclusion Abnormal expression of nephrin is the important molecular mechanism that leads to the occurrence and development of proteinuria in AN rats. Qufengtongluo recipe has effect on nephrotic syndrome through altering the expression and distribution of nephrin in glomerulus.

Objective To determine the curative effect of stabilizing unstable pelvic ring fracture using the anterior subcutaneous internal fixator (INFIX).Methods From July 2013 to June 2014,15 cases who suffered from anterior pelvic ring fracture were treated with the device.There were 11 males and 4 females,with mean age of 38.5 years (range,23-65 years).Eight cases sustained fracture in traffic accidents,4 in high falls,and 3 in crush injury.According to the Young-Burgess and AO/OTA classification systems,type APC2 or 61-B1 was noted in one case,LC1 or 61-B2.1 in 4 cases,LC2 or 61-B2.2/61-B2.3 in 6 cases,and VS or 61-C1/61-C2 in 4 cases.Basic method in anterior ring fixation was one pedicle screw was respectively inserted into the area between the anterior superior iliac spine and anterior inferior iliac spine of both sides.The precontoured rod was then tunneled subcutaneously from one screw to the other.For the stable posterior injury in pelvic ring fracture,the anterior pelvic ring was stabilized only using the technique.For the unstable posterior injury in pelvic ring fracture,the anterior and posterior ring were both fixed using the technique.During follow-up visits,patients' tolerance to the device,wound infection,myositis ossificans,internal fixation lessening,and lateral femoral cutaneous nerve injury were evaluated.Results Follow-up ranged from 6-12 months (mean,7.5 months).The device was well tolerated by the patients for comfort.None had surgical site infection and internal fixation loosening.Injuries healed without loss of reduction at the 3-month follow-up.Injury of the lateral femoral cutaneous nerve at the both side was reported in 4 cases and at one side in 2 cases,but all restored 3 month after operation.Conclusion The reported technique is minimally invasive with few complications and reliable results,hinting an ideal method to stabilize the anterior pelvic ring fracture.

Objective ST segment elevation in adult patients with acute myocarditis is rare in adult.The purpose of this study was to report the outcome of ST segment elevation in adult patients with acute myocarditis in our hospital,in order to provide reference for clinical diagnosis and treatment.Methods A retrospective analysis of Beijing Anzhen Hospital during January 2002 to December 2015 for the diagnosis of acute myocarditis were 105 cases,divided into two groups,one group of ST elevation (ST elevation group) total 57 cases,another group of non ST elevation (non ST elevation group) total 48 cases.The clinical features,laboratory examination,treatment and prognosis were compared between the two groups.The composite primary endpoint of major cardiovascular events (MACE) during hospitalization included:mortality,cardiac shock and ventricular fibrillation.Results The average onset age of patients with ST segment elevation group and non ST segment elevation group were similar [(27.7 ± 10.1) years vs.(28.7 ± 10.0) years,P =0.603].There was a significant difference between the two group in patients of heart rate [(89 ± 22) beats/min vs.(80 ± 23) beats/min,P =0.028],systolic blood pressure on admission [(105 ± 17) mmHg vs.(115 ± 17) mmHg,P =0.003],diastolic blood pressure on admission [(66 ± 11) mmHg vs.(74 ± 11) mmHg,P =0.000],and total number of acute fulminant myocarditis [20 (35.1％) vs.7 (14.6％),P =0.024)].ST segment elevation acute myocarditis patients were significantly more at risk for MACE than non ST segment elevation acute myocarditis patients during hospitalization (P =0.04).Conclusion ST segment elevation acute myocarditis has acute onset and rapid progression.The incidence of MACE during hospitalization was significantly high.Mechanical support can be ve,ry favourable.ST segment elevation acute myocarditis is associated with excellent short-term prognosis.

Objective To investigate the effects of percutaneous coronary intervention(PCI)on life quality and cardiac events in elderly patients with stable angina owing to chronic coronary total occlusion(CTO).Methods Patients with stable angina due to CTO hospitalized in Beijing Anzhen Hospital from January 2015 to January 2018 were consecutively recruited in this prospective study,and were randomly divided into the combined treatment group(n=44)and the control group (n=43).Patients in the combined treatment group were treated with PCI and optimal medical therapy,and those in the control group were treated with optimal medical therapy alone.Patients followed up for 6 months after treatment.Cardiac function,life quality(Seattle angina questionnaire,SAQ)and adverse cardiovascular events were compared before and after treatment.Results A total of 87 patients were involved,with a mean age of (69.5 ± 7.2) years.Basic characteristics,including age,sex ratio,previous history,left ventricular ejection fraction,coronary artery lesions and SAQ scores,were similar between the groups(P＞0.05).After a 6 month post treatment follow up,SAQ scores improved in all patients,compared with those before treatment(P＜0.05).Moreover,patients in the combined treatment group had higher SAQ scores on physical limitation(86.3 ± 11.6 vs.76.3 ± 21.3),angina stability(67.3 ±24.5 vs.57.3±21.2)and angina frequency(93.3±4.3 vs.86.4±8.3)than those in the control group (P ＜0.05).There was no significant difference in major adverse cardiovascular event rate between the groups[18.2％(8 cases) vs.16.3％(7 cases),X2 =0.055,P＞0.05].Conclusions Combined with optimal medical therapy,PCI can improve the life quality in elderly patients with stable angina due to CTO,but has no significant influence on the short-term major adverse cardiovascular event rate.

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

Objective To analyze the risk factors of adverse cardiac events in adults with acute myocarditis during hospitalization and provide reference for clinical diagnosis and treatment.Methods A restrospective study was conducted in 80 patients (54 males and 26 females) with acute myocarditis over 18 years old admitted to our hospital between January 2007 and December 2016.Major adverse cardiac events (MACE) were defined as death,cardiac arrest,cardiogenic shock and ventricular fibrillation.According to whether MACE occurred during hospitalization,patients were divided into two groups:the MACE group and the non-MACE group.The differences between the two groups were compared,and the risk factors were analyzed by logistic regression.Results There were 12 patients in the MACE group and 68 patients in the non-MACE group.The age of patients in the two groups was similar.Compared with the non-MACE group,the proportion of female patient in the MACE group was higher (66.7％ vs 26.5％,P=0.015),and the systolic pressure (mmHg) was lower at admission (89.75±17.63 vs 112.49±16.35,P＜0.01),and the heart rate (beats/min) was faster (106.42±24.39 vs 82.66±20.92,P=0.001);ALT and creatinine levels in the MACE group were higher (P＜0.01),while the levels of TnI,CK-MB,CK and LDH were significantly higher (P＜0.05).The LVEF value of the MACE group was significantly lower at admission (45％ vs 60％,P=0.022),and the proportion of LVEF ＜ 50％ was also higher (58.3％ vs 19.1％,P=0.008) The proportion of prolonged QRS wave (＞120 ms) was significantly higher in the MACE group (75％ vs 17.6％,P＜0.01).In the MACE group,the proportion of diuretics and vasoactive drugs (dopamine,norepinephrine,and adrenaline) was higher (66.7％ vs 25％,91.7％ vs 4.4％,66.7％ vs 0,75％ vs 0％,all P＜0.01);the proportion of glucocorticoids and immunoglobulin was higher (33.3％ vs 8.8％,P=0.038;33.3％ vs 4.4％,P=0.008),and the proportion of ventilator,CRRT,ECMO and IABP were also higher (50％vs 1.5％,33.3％ vs 0,25％ vs 0％,25％ vs 0％,all P＜0.01).Logistic regression analysis showed that the OR value of MACE in female patients during hospitalization was 5.56 (95％CI:1.49-20.71,P=0.011).The OR value of MACE in patients with reduced LVEF at admission was 5.92 (95％CI:1.62-21.67,P=0.007).The OR value of MACE in patients with prolonged QRS wave was 14.00 (95％CI:3.29-59.55,P＜0.01).Conclusions Female patients,LVEF＜50％ at admission,and prolonged QRS wave (QRS＞120 ms) are independent risk factors for MACE in adult patients with acute myocarditis during hospitalization.