Identification of A Novel Variant of Destroying the Attraction Between Benzene Rings and Sulfhydryl in Developmental Dysplasia of the Hip.

Developmental dysplasia of the hip (DDH), characterized by acetabular deformity that manifests from loose ligaments to complete dislocation of the hip, can cause notable pain and dysfunction and lead to hip dislocation, secondary fractures, scoliosis, and osteoarthritis of hip. Variants in may produce a spectrum of malformations in multiple organs, especially the skeleton. This study aimed to identify the genetic etiologies of DDH patients and provide genetic testing information for further diagnosis and treatment of DDH.

Case report: Identification of novel variants impacting disulfide bond and causing congenital contractural arachnodactyly.

Congenital contractural arachnodactyly (CCA) is an autosomal dominant connective tissue disorder with clinical features of arthrogryposis, arachnodactyly, crumpled ears, scoliosis, and muscular hypoplasia. The heterozygous pathogenic variants in have been shown to cause CCA. Fibrillin-2 is related to the elasticity of the tissue and has been demonstrated to play an important role in the constitution of extracellular microfibrils in elastic fibers, providing strength and flexibility to the connective tissue that sustains the body's joints and organs.

Identification of Two Novel Frameshift Mutations in Exostosin 1 in Two Families with Multiple Osteochondromas.

Multiple osteochondromas (MO) is an autosomal dominant hereditary disorder, which typically manifests as skeletal dysplasia, mainly involving long bones and knees, ankles, elbows, wrists, shoulders, and pelvis. Previous studies have demonstrated that mutations in exostosin glycosyl transferase-1 () and exostosin glycosyl transferase-2 () were the main cause of MO. In this study, we enrolled 2 families with MO.

Twelve-year outcomes after revascularization for ostial/shaft lesions in unprotected left main coronary artery.

Objective: To evaluate a very long-term clinical outcomes of patients treated with coronary artery bypass grafting (CABG) and percutaneous coronary intervention (PCI) with drug-eluting stents (DES) for ostial/shaft lesions in unprotected left main coronary artery (ULMCA).

Methods & Results: A total of 472 patients with isolated ostial/shaft lesions in ULMCA were enrolled, who received DES implantation or underwent CABG between January 2003 and July 2009 in Beijing Anzhen Hospital. The major endpoints of this study were death, repeat revascularization, non-procedural myocardial infarction (MI) and stroke.

Novel Compound Heterozygous Variants Causing Hereditary Sensory and Autonomic Neuropathies VI in Twins of a Chinese Family.

Hereditary sensory and autonomic neuropathies (HSANs) are a rare and severe group of sensory axonal neuropathies. HSANs have been classified into eight groups based on mode of inheritance, clinical features, and the involved genes. HSAN-VI, perhaps the most notable type, is an autosomal recessive disease, which manifests as the severely impaired pain sensitivity, autonomic disturbances, distal myopathy, spontaneous or surgical amputations, and sometimes early death.

Compound heterozygous mutations cause mucolipidosis II or III alpha/beta in two Chinese families.

Objective: Mucolipidosis II and III alpha/beta (ML II & ML III alpha/beta) are rare autosomal recessive lysosomal storage disorders. ML II is clinically evident from birth with a progressive course and fatal outcome in childhood. The typical phenotypes of ML II include limited statural growth, craniofacial abnormality, skeletal malformation, intelligence developmental deficiency and visceral organ abnormality.

A novel mutation (c.1010G>T; p.R337L) in TP63 as a cause of split-hand/foot malformation with hypodontia.

Background: Tumor protein p63 (TP63)-related disorders can be divided into at least six categories, including ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome 3 (EEC syndrome 3), ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC syndrome), acro-dermo-ungual-lacrimal-tooth syndrome (ADULT syndrome), limb-mammary syndrome (LMS), Rapp-Hodgkin syndrome (RHS) and split-hand/foot malformation 4 (SHFM4), and are all a result of heterozygous mutations of TP63. The phenotypes of TP63-related disorders broadly involve ectodermal dysplasias, acromelic malformation and orofacial cleft. SHFM and hypodontia are prominent clinical manifestations of TP63-related disorders.

Long-term outcomes of PCI CABG for ostial/midshaft lesions in unprotected left main coronary artery.

Background: There are limited data on long-term (> 5 years) outcomes of drug-eluting stent (DES) implantation compared with coronary artery bypass grafting (CABG) for ostial/midshaft left main coronary artery (LMCA) lesions.

Methods: Of the 259 consecutive patients in Beijing Anzhen Hospital with ostial/midshaft LMCA lesions, 149 were treated with percutaneous coronary intervention (PCI) with DES and 110 were with CABG. The endpoints of the study were death, repeat revascularization, myocardial infarction (MI), stroke, the composite of cardiac death, and major adverse cardiac and cerebrovascular events (MACCE, the composite of cardiac death, MI, stroke or repeat revascularization).

A novel splice-site mutation of WRN (c.IVS28+2T>C) identified in a consanguineous family with Werner Syndrome.

Werner Syndrome (WS) is a rare, adult‑onset progeroid syndrome that is associated with multiple age‑associated complications and relatively short life expectancy. The characteristics of WS include a 'bird‑like' appearance, canities, cataracts and ulcerations around the ankles. In addition, certain patients develop hypogonadism with atrophic genitalia and infertility.

Very Long-term Outcomes and Predictors of Percutaneous Coronary Intervention with Drug-eluting Stents Versus Coronary Artery Bypass Grafting for Patients with Unprotected Left Main Coronary Artery Disease.

Background: There are limited data on longer-term outcomes (>5 years) for patients with unprotected left main coronary artery (ULMCA) disease who underwent percutaneous coronary intervention (PCI) in the drug-eluting stents (DES) era. This study aimed at comparing the long-term (>5 years) outcomes of patients with ULMCA disease underwent PCI with DES and coronary artery bypass grafting (CABG) and the predictors of adverse events.

Methods: All consecutive patients with ULMCA disease treated with DES implantation versus CABG in our center, between January 2003 and July 2009, were screened for analyzing.

Predictive Ability of the SYNergy Between Percutaneous Coronary Intervention with TAXus and Cardiac Surgery Score II for Long-term Mortality in Patients with Three-vessel Coronary Artery Disease Undergoing Percutaneous Coronary Intervention Treated with Second-generation Drug-eluting Stents.

Background: The SYNergy between percutaneous coronary intervention with TAXus and cardiac surgery Score II (SS-II) can well predict 4-year mortality in patients with complex coronary artery disease (CAD), and guide decision-making between coronary artery bypass graft surgery and percutaneous coronary intervention (PCI). However, there is lack of data regarding the utility of the SS-II in patients with three-vessel CAD undergoing PCI treated with second-generation drug-eluting stents (DES). The purpose of the present study was to evaluate the ability of the SS-II to predict long-term mortality in patients with three-vessel CAD undergoing PCI with second-generation DES.

[Clinical characterization of patients with Danon disease].

Objective: To analyze the clinical characterization of Danon disease caused by the mutation of lysosome-associated membrane protein-2 (LAMP-2) gene.

Methods: The clinical features, serum biochemical index, electrocardiogram and echocardiography data were retrospectively reviewed in 5 patients with genetically confirmed Danon disease. Mean follow-up period was (56 ± 6) months.

[Relationship between estimated glomerular filtration rate level and clinical characteristics and outcome in patients with angiographic coronary artery disease and normal serum creatinine].

Objective: To explore the relationship between estimated glomerular filtration rate level and clinical characteristics and outcome in coronary artery disease (CAD) patients with normal serum creatinine.

Method: A total of 548 hospitalized and angiographic CAD patients with normal fasting serum creatinine were enrolled. The kidney function was estimated by using the abbreviated modification of diet in renal disease (MDRD) study equation.

Increased plasma levels of intermedin and brain natriuretic peptide associated with severity of coronary stenosis in acute coronary syndrome.

Intermedin (IMD) is a newly discovered peptide with increased levels in plasma and cardiac tissue in mice with ischemia/reperfusion. Continuous administration of low dose IMD markedly elevated the mRNA abundance of myocardial BNP in rats. Plasma BNP levels may reflect the severity of degree of coronary stenosis in patients with acute coronary syndrome (ACS).

[Clinical characteristics of coronary artery disease patients with reduced left ventricular ejection fraction and their prognostic analysis].

Objective: To explore the relationship between reduced left ventricular ejection fraction (LVEF) and characteristics of coronary artery disease (CAD) and investigate the association between reduced LVEF and cardiovascular prognosis.

Methods: A total of 677 hospitalized patients with angiographic CAD were enrolled. All patients' clinical data were recorded.

[The value of SYNTAX score in predicting outcome patients undergoing percutaneous coronary intervention].

Objective: To assess the value of SYNTAX score to predict major adverse cardiac and cerebrovascular events (MACCE) among patients with three-vessel or left-main coronary artery disease undergoing percutaneous coronary intervention.

Methods: 190 patients with three-vessel or left-main coronary artery disease undergoing percutaneous coronary intervention (PCI) with Cypher select drug-eluting stent were enrolled. SYNTAX score and clinical SYNTAX score were retrospectively calculated.

[Coronary artery bypass grafting for elderly with unprotected left main coronary artery disease: a clinical analysis].

Objective: To study the correlation between the clinical features and the prognosis in elderly patients with unprotected left main coronary artery disease (ULMCA) after coronary artery bypass grafting (CABG).

Methods: The clinical parameters and prognosis data from 176 patients received CABG for ULM were retrospectively analyzed for comparison of elderly (age≥65) and against non-elderly (age < 65).

Results: The elderly patients were found to have significantly higher level of blood high density lipoprotein cholesterin (HDL-C, mmol/L: 28.

Successful treatment with biventricular pacing in a patient with hypertrophic obstructive cardiomyopathy.

We report the effects of biventricular pacing in a patient with hypertrophic obstructive cardiomyopathy (HOCM) refractory to medical therapy. A 58-year-old man with HOCM had suffered from dyspnea, chest pain and palpitation for 5 years. Cardiac catheterization showed a left ventricular outflow tract (LVOT) gradient of 80 mmHg.

Syntax score predicts clinical outcome in patients with three-vessel coronary artery disease undergoing percutaneous coronary intervention.

Background: The Syntax score was recently developed as a comprehensive, angiographic tool grading the complexity of coronary artery disease (CAD). It aims to assist in patient selection and risk stratification of patients with extensive CAD undergoing revascularization. However, the prognostic value of the Syntax score in patients undergoing percutaneous coronary intervention (PCI) has not been validated.

Simvastatin inhibited cardiac hypertrophy and fibrosis in apolipoprotein E-deficient mice fed a "Western-style diet" by increasing PPAR α and γ expression and reducing TC, MMP-9, and Cat S levels.

Aim: The examine the cardiac hypertrophy and fibrosis in apolipoprotein E-deficient mice (ApoE-/- mice) fed a "Western-style diet" and the effect of simvastatin intervention.

Methods: Male ApoE-/- mice (n=36) were fed a "Western-style diet" from the age of 8 weeks. After 16 weeks, they were randomly given either simvastatin (25 mg·kg⁻¹·d⁻¹) or normal saline (control group) by gavage for 8, 16, or 24 weeks.

[The clinical characteristics of 5 patients with inherited hypertrophic cardiomyopathy].

Objective: To explore the clinical characteristics of patients with inherited hypertrophic cardiomyopathy.

Methods: The clinical characteristics, electrocardiogram, serum chemistry and diagnostic methods were retrospectively investigated in 5 patients with inherited hypertrophic cardiomyopathy.

Results: The electrocardiograms of all patients were abnormal, with prominent left ventricular voltage and ST-T changes.

[Angiographic characteristics and long term clinical outcomes post coronary stenting in non-diabetic and type 2 diabetic patients with coronary artery disease].

Objective: To observe the angiographic characteristics and the long-term clinical outcomes following coronary stenting in non-diabetic (non-DM) and type 2 diabetic (DM) patients with coronary artery disease.

Methods: This cohort study enrolled 1172 consecutive patients with coronary heart disease underwent elective coronary stenting (249 type 2 DM and 923 non-DM). The angiographic characteristics and the long-term clinical follow-up results were compared between non-DM and DM patients.

[Clinical features of late stent thrombosis after successful sirolimus-eluting stent implantation].

Objective: To analyze the potential risk factors for patients developing late stent thrombosis (LST) after successful sirolimus-eluting stents (SES) implantation.

Methods: The clinical, angiographic, procedural as well as antiplatelet therapy data were retrospectively analyzed in 8 patients with LST after successful SES implantation.

Results: The patient's mean age was (51 +/- 10) years old and indication for SESs was mostly acute coronary syndrome with multiple risk factors of cardiovascular diseases.