Identification of novel rare copy number variants associated with sporadic tetralogy of Fallot and clinical implications.

Tetralogy of Fallot (TOF) is the most common cyanotic congenital heart disease. Highly penetrant copy number variants (CNVs) and genes related to the etiology of TOF likely exist with differences among populations. We aimed to identify CNV contributions to sporadic TOF cases in Han Chinese.

Study on the expression level of NF-κB and clinical evaluations in spinal tuberculosis patients.

Spinal tuberculosis or tuberculous spondylitis is one of the most common types of skeletal tuberculosis. Complications of the spine and spinal cord tuberculosis include destruction of the vertebrae, deformity, and paraplegia. Since in some patients, the clinical manifestations of tuberculosis are unusual and timely diagnosis and treatment of this disease can prevent its serious consequences, so in the present study, some cases of rare manifestations of tuberculosis were investigated.

Study on the expression level of NF-κB and clinical evaluations in spinal tuberculosis patients.

Spinal tuberculosis or tuberculous spondylitis is one of the most common types of skeletal tuberculosis. Complications of the spine and spinal cord tuberculosis include destruction of the vertebrae, deformity, and paraplegia. Since in some patients, the clinical manifestations of tuberculosis are unusual and timely diagnosis and treatment of this disease can prevent its serious consequences, so in the present study, some cases of rare manifestations of tuberculosis were investigated.

Egr1 deficiency disrupts dynamic equilibrium of chondrocyte extracellular matrix through PPARγ/RUNX2 signaling pathways.

Background: This study is to investigate the effect of Egr1 on the mineralization and accumulation of chondrocyte extracellular matrix.

Methods: The femoral heads of patients of various heights were collected. Egr1 knockout mice were used.

[Expression of PTEN, matrix metaloproteinases 2 and 9 in thymomas].

Objective: To evaluate the expression of PTEN, MMP-2 and MMP-9 in thymomas and their correlation with clinical significance.

Methods: Immunohistochemical S-P assay was used to detect the expression of PTEN, MMP-2 and MMP-9 in 45 thymomas and 16 non-neoplastic thymuses.

Results: The positive rate of PTEN, MMP-2 and MMP-9 expression in 45 thymomas were 53.

The current strategy of repair of tetralogy of Fallot in children and adults.

Objectives: The strategies of repair of tetralogy of Fallot change with the age of patients. In children older than 4 years and adults, the optimal strategy may be to use different method of reconstruction of the right ventricular outflow tract from those followed in younger children, so as to avoid, or reduce, the pulmonary insufficiency that is increasingly known to compromise right ventricular function.

Methods: From April, 2001, through May, 2008, we undertook complete repair in 312 patients, 180 male and 132 female, with a mean age of 11.

High throughput detection of microsatellite instability by denaturing high-performance liquid chromatography.

Microsatellite instability (MSI) is a hallmark of the DNA replication error phenotype, due to the inactivation of mismatch repair genes. MSI has been implicated in colon and many other gastrointestinal cancers. MSI usually can be analyzed by PCR amplification of microsatellite markers followed by electrophoresis and detected using autoradiography or fluorescence techniques.