0.05). In comparing the proportions of positions,there was a significant difference between two groups (P

OBJECTIVETo explore the genetic basis and phenotypic correlation with disease severity in a large cohort of Chinese patients with hypertrophic cardiomyopathy (HCM).

METHODSA total of 179 unrelated Chinese HCM patients admitted to our department from 2002 to 2011 were enrolled in this study. Direct gene sequencing of β-myosin heavy chain (MYH7), myosin binding protein-C ( MYBPC3), and cardiac troponin T (TNNT2) were performed and clinical data were obtained in these patients.

RESULTSA total of 34 mutations were identified in 40 patients (22.3%), 79.4% (27/34) mutations occurred only once and a possible hot spot, A26 in MYH7, was found. Distribution of mutations was 52.9% (18/34) (MYBPC3), 35.3% (12/34) ( MYH7) and 11.8% (4/34) (TNNT2) respectively. Double mutations were identified in 2.2% (4/179) patients. Genotype-positive patients were associated with an earlier symptom onset, severer left ventricular hypertrophy, a higher incidence of syncope, and were more likely to have positive family history of HCM or sudden cardiac death (SCD) , and were more likely to progress into heart failure (24.2% vs. 5.0%, P = 0.002) and at a higher risk of SCD (9.1% vs. 0, P = 0.009) during the 6.5-year follow-up. No statistical difference in any clinical parameters and outcomes was found between patients carrying MYBPC3 and MYH7 mutations. Double mutations were associated with malignant clinical progression in this cohort. Different phenotype severity could be seen in HCM patients with same genotype (e. g. MYH7-1736T, TNNT2-R92W).

CONCLUSIONMYBPC3 is the most predominant gene mutation in this HCM cohort. The presence of a sarcomere mutation in patients with HCM is associated with poor clinical outcome, although no specific genes or mutations can exactly predict the severity of clinical phenotypes.

Asian Continental Ancestry Group ; Cardiomyopathy, Hypertrophic ; Carrier Proteins ; Death, Sudden, Cardiac ; Disease Progression ; Genotype ; Humans ; Hypertrophy, Left Ventricular ; Mutation ; Phenotype ; Sarcomeres ; Troponin T ; Ventricular Myosins

Objective To investigate the clinical features of initially treated pulmonary tuberculosis(TB)patients with rifampin dependent mycobacterium tuberculosis Rv0341 antibody positive.Methods Forty two initially treated pulmonary TB patients with rifampin dependent mycobacterium tuberculosis Rv0341 antibody positive were included as the study group and 42 initially treated pulmonary TB patients with rifampin dependent mycobacterium tuberculosis Rv0341 antibody as the control group The aspects of clinical symptoms,X-ray imaging manifestations,positive rate in sputum culture of Mycobacterium tuberculosis and rifampin dependent mycobacterium tuberculosis,treatment effects,etc.were compared between the two groups.Results The incidence rates of expectoration,hemoptysis and shortness of breath in the study group were significantly higher than those in the control group(P＜0.05);the X-ray image manifestations in the study group showed that the lesions were much more involved in two lungs and multiple lung fields(P＜0.05),while thlesions in the control group more confined to single lung and one lung field(P＜ 0.05),moreover the rate appearing pulmonary cavity in the study group was higher than that in the control group(P＜0.05);the sputum culture positive rate of Mycobacterium tuberculosis had no statistical difference between the two groups(P＞0.05),but the sputum culture positive rate of rifampin dependent mycobacterium tuberculosis in the study group was significantly higher than that in the control group(P＜0.05);as for the treatment effects,the cure rate in the control group was higher than that in the study group(P＜0.05),the ineffective ratio in the control group was less than that in the study group.Conclusion Initially treated pulmonary TB patients with rifampin dependent mycobacterium tuberculosis Rv0341 antibody positive have the characteristics of severe clinical symptoms,wide range lesions,easily appearing cavity,high culture positive rate of rifampin dependent mycobacterium tuberculosis and poor treatment effect.

Objective To investigate the value of two-dimensional and three-dimensional ultrasonography in differential diagnosing cesarean scar pregnancy (CSP) and lower uterine cavity non-scar pregnancy.Methods Totally 67 patients with CSP (CSP group)and 29 patients with lower uterine cavity non-scar pregnancy (lower uterine cavity non-scar pregnancy group) were enrolled.Two-dimensional and three-dimensional ultrasonography were performed to observe the gestational sac implantation site,the relationship between gestational sac and cesarean section scar and the main source of blood flow,and the residual muscle thickness of cesarean section scar was measured as well.Logistic regression model was established,and the diagnostic efficacy was evaluated with ROC curve.Results Statistical differences of relationship between gestational sac and scar,the main source of blood flow and residual muscle thickness were found between CSP group and lower uterine cavity non-scar pregnancy group (all P＜0.001).The area under the ROC curve of the Logistic regression model was 0.878 (P＜0.001).Taking prediction accuracy of 0.680 as a cut-off value,the accuracy of this model in predicting was 86.46％,the sensitivity was 89.55％ and the specificity was 79.31％.Taking gestational sac implanted scars and nourish the blood flow from the lower anterior wall of the uterus as the diagnostic criteria for CSP,the Kappa value of two-dimensional and three-dimensional ultrasonograpby in diagnosis CSP and non-scar pregnancy was 0.699 and 0.711,respectively.Conclusion Comprehensive analysis of the relationship between gestational sac and scars,the main source of blood flow and residual muscle thickness with Logistic regression model can improve differential diagnostic efficacy of CSP with lower uterine cavity non-scar pregnancy.

The clinical data of 31 patients with congenital heart disease(CHD)receiving minimally invasive surgical closure through chest or femoral venous catheter from June 2016 to September 2017 were analyzed retrospectively.All patients were diagnosed with esophageal echocardiography before operation.During the operation,the insert of guide wire and the sheath tube,and the placement of the sealing parasol were monitored and guided by transesophageal echocardiography (TEE).Satisfactory results were obtained in 30 patients.In 1 patients,the sealing parasol was detached,and open chest surgery was performed to remove the detached parasol and to repair the defect.TEE-guided minimally invasive surgical closure through chest or femoral vein catheter is safe and effective in the treatment of congenital heart disease and has certain clinical applicative value.

We report the diagnosis and treatment of two cases of fetal intestinal volvulus. Case 1 presented to Gansu Provincial Maternity and Child-care Hospital due to reduced fetal movements at 33 +4 weeks of gestation. Case 2 was referred to our hospital from a local hospital because of fetal bowel dilatation by ultrasound at 32 +5 weeks. Both cases were found to have fetal bowel dilatation with typical "whirlpool" or "coffee bean" signs on ultrasound after admission. After multidisciplinary consultation and discussion, an emergency cesarean section was performed, during which the two neonates underwent surgical operation and resection of necrotic bowel loops after confirming the diagnosis of volvulus and intestinal necrosis. Case 2 suffered from pulmonary artery thrombosis after the bowel surgery, and underwent pulmonary artery incision and embolectomy within 24 hours. Both newborns recovered well after the operation, whose growth parameters and nervous system development was normal for follow-up.

There are many kinds of variabilities of fetal venous system tending to complicated with complex cardiovascular malformations.Prenatal ultrasound is of great importance for evaluation of fetal venous system.High-definition flow(HD-Flow)combined with spatiotemporal image correlation(STIC)could not only display micro blood flow in fetal venous system,but also show the spatial alignment and flow direction in real time.The research progresses of HD-Flow combined with STIC for evaluating fetal venous system abnormalities were reviewed in this article.

Objective:To explore the feasibility and clinical results of absorbable antibacterial calcium sulfate combined with tissue flaps in the treatment of traumatic calcaneal osteomyelitis (CO) secondary to skin and soft tissue defects in children.Methods:From January 2007 to August 2020, 44 cases of children with heel skin and soft tissue defects associated with traumatic CO were treated and followed up effectively in the Third Affiliated Hospital of Xinxiang Medical University.Among them, 17 cases were treated with absorbable calcium sulfate cement combined with tissue flaps as the calcium sulfate group, and 27 cases were treated with antibiotic polymethylmethacrylate (PMMA) bead combined with tissue flaps as the membrane induction group.A comparison was drawn on the therapeutic effect, recurrence rate of postoperative infection, postoperative ankle mobility, number of operations, total length of hospital stays and hospitalization expenses between both groups.Results:The average follow-up time was 10.7 months in the calcium sulfate cement group and 9.3 months in the membrane induction group.All flaps were effective except for 3 cases who presented with small necrosis on the distal end of the sural neurovascular flaps.The recurrence rate of postoperative infection and the hospitalization expenses in the calcium sulfate group were lower than those in the membrane induction group, but the differences were not statically significant (all P>0.05). The postoperative ankle mobility [(63.6±9.3)°], number of operations [2(1.0, 2.0) times] and total length of hospital stay [6.1(4.5, 7.4) weeks] of the calcium sulfate group were significantly lower than those of the membrane induction group [(57.7±9.5)°, 2(2.0, 3.0) times, 7.0(5.0, 9.0) weeks], the difference were statistically significant (all P<0.05). Severe CO may cause structural damage to calcaneal tubercle or insertion site of achilles tendon, but the active plantar flexion function of ankles will be good despite the decrease in strength. Conclusions:The effect of absorbable antibacterial calcium sulfate cement combined with tissue flaps in the treatment of traumatic CO in children is favorable, and the number of operations, length of hospital stays and hospitalization expenses are relatively less compared with PMMA cement combined with tissue flaps.

Objective:To investigate the impact of diabetes mellitus (DM) and stroke on long-term outcomes in patients with acute coronary syndrome (ACS) undergoing percutaneous coronary intervention (PCI).Methods:Total 411 consecutive ACS patients undergoing PCI at the Ninth People′s Hospital of Zhengzhou between December 2014 and June 2018 were recruited, including 319 males and 92 females with a mean age of (64.7±10.1) years. These patients were divided into 4 groups according to the presence or absence of history of diabetes or stroke: non-DM non-stroke group ( n=192) , DM group ( n=140), stroke group ( n=41), and DM+stroke group ( n=38). The data of baseline demographic characteristics, clinical feature, coronary angiographic findings, and cardiovascular adverse events during long-term follow-up were obtained. Kaplan-Meier curves were used to investigate the long-term clinical outcomes among groups. Results:The mean interval of follow-up was (24.1±13.8) months. Patients with DM+stroke had the highest rates of non-fetal myocardial infarction (χ 2=24.932) , non-fetal stroke (χ 2=9.434) , hospitalization due to heart failure/angina (χ 2=69.290) , revascularization (χ 2=22.918) , cardiovascular death(χ 2=13.473)and all-cause death(χ 2=17.724)as well as hard endpoint events (the sum of non-fetal myocardial infarction, non-fetal stroke, and all-cause death) (χ 2=30.268)and combined major adverse cardiovascular events (MACE) (the sum of hard endpoint events, hospitalization due to heart failure/angina, and revascularization) (χ 2=119.556)among 4 groups(all P<0.01). In Kaplan-Meier survival analysis, the cumulative ratio of freedom from all-cause death decreased significantly in DM+stroke group compared with no DM no stroke group ( HR=17.121, 95 %CI: 2.527-115.934, P<0.01), but no statistical difference was observed in the cumulative ratio of freedom from all-cause death between DM+stroke group and DM group or stroke group respectively ( HR=3.178, 95 %CI: 0.744-13.582; HR=1.383, 95 %CI: 0.374-5.118; all P>0.05) . Meanwhile, patients with DM+stroke presented significantly lower cumulated ratio free from combined MACE than patients with non-DM non-stroke ( HR=5.423, 95 %CI:2.941-10.036, P<0.01), and the cumulated ratio free from combined MACE also decreased significantly in DM+stroke group as compared to DM group or stroke group respectively ( HR=1.859,95 %CI: 1.167-2.962; HR=1.991,95 %CI: 1.178-3.364; all P<0.01) . Conclusions:ACS patients with combined history of DM and stroke have a worse long-term outcomes after PCI than those with DM alone or stroke alone or without DM or stroke. DM and stroke seemed to have an additive effect on decrease in the cumulative ratio free from combined MACE in ACS patients following PCI.

As a ligand-dependent transcription factor,retinoid-associated orphan receptor γt(RORyt)that controls T helper(Th)17 cell differentiation and interleukin(IL)-17 expression plays a critical role in the pro-gression of several inflammatory and autoimmune conditions.An emerging novel approach to the therapy of these diseases thus involves controlling the transcriptional capacity of RORyt to decrease Th17 cell development and IL-17 production.Several RORyt inhibitors including both antagonists and inverse agonists have been discovered to regulate the transcriptional activity of RORyt by binding to orthosteric-or allosteric-binding sites in the ligand-binding domain.Some of small-molecule inhibitors have entered clinical evaluations.Therefore,in current review,the role of RORyt in Th17 regulation and Th17-related inflammatory and autoimmune diseases was highlighted.Notably,the recently developed RORyt inhibitors were summarized,with an emphasis on their optimization from lead compounds,ef-ficacy,toxicity,mechanisms of action,and clinical trials.The limitations of current development in this area were also discussed to facilitate future research.