OBJECTIVETo establish an allele-specific PCR method for detect screening of CYP21A2 gene mutation.

METHODSAllele-specific PCR primers and analogy primers were designed based on the sequence alignment of CYP21A2 and CYP21AP genes. Genomic DNA was extracted from blood specimens of 4 patients with 21-hydroxylase deficiency and 5 healthy controls and respectively amplified with allele-specific PCR primers and analogy primers and sequenced.

RESULTSMutations of CYP21A2 including IVS2-13A/C>G, Arg356Trp and Arg149Pro were found with the established method in all of the 4 patients but not in the healthy controls. When detected with the analogy primers set, IVS2-13A/C>G and Arg356Trp were observed in both patients and healthy controls.

CONCLUSIONThe allele-specific PCR-based method is a simple, effective and reliable method for the detection of CYP21A2 gene mutation.

Adrenal Hyperplasia, Congenital ; enzymology ; genetics ; Alleles ; Base Sequence ; DNA Mutational Analysis ; methods ; DNA Primers ; genetics ; Humans ; Molecular Sequence Data ; Mutation ; Polymerase Chain Reaction ; methods ; Steroid 21-Hydroxylase ; genetics

Objective Todetectthe level of plasma VEGF before and after treatment of arteriovenous mal-formationpatients,and the pathophysiological role of VEGF in arteriovenous malformationpatientswas also studied. Methods The blood samples of 17 arteriovenous malformation patients were collected according to the following three groups:group before operation(AVM),group 24 hours after operation(AVM24h)and group 30 days after operation(AVM30d).As a control(Con),22 blood samples were collected from lumbar laminectomypatients.The level of plasma VEGF was determined by ELISA assay. Results Compared with the control group,the plasma VEGF was significantly decreased in AVM group and AVM24h group(P < 0.05),while the plasma VEGF in AVM30d groupwas similarto that of the control group. Conclusions Abnormal blood vessel plays an important pathophysiological role in cerebral arteriovenous malformation,and the metabolism of VEGF is involved in the pro-cess of arteriovenous malformation.

Precise biomarker development is a key step in disease management. However, most of the published biomarkers were derived from a relatively small number of samples with supervised approaches. Recent advances in unsupervised machine learning promise to leverage very large data-sets for making better predictions of disease biomarkers. Denoising autoencoder (DA) is one of the unsupervised deep learning algorithms, which is a stochastic version of autoencoder techniques. The principle of DA is to force the hidden layer of autoencoder to capture more robust features by reconstructing a clean input from a corrupted one. Here, a DA model was applied to analyze inte-grated transcriptomic data from 13 published lung cancer studies, which consisted of 1916 human lung tissue samples. Using DA, we discovered a molecular signature composed of multiple genes for lung adenocarcinoma (ADC). In independent validation cohorts, the proposed molecular signature is proved to be an effective classifier for lung cancer histological subtypes. Also, this signature suc-cessfully predicts clinical outcome in lung ADC, which is independent of traditional prognostic fac-tors. More importantly, this signature exhibits a superior prognostic power compared with the other published prognostic genes. Our study suggests that unsupervised learning is helpful for bio-marker development in the era of precision medicine.

No case of moyamoya syndrome with bilateral posterior cerebral artery (PCA) occlusion has been reported in China so far as this disease is extremely rare. The case shown in this article is a middle-aged women who has a history of atrial fibrillation, hypertension and type 2 diabetes acutely attacked by this syndrome. The main clinical manifestations included binocular blindness, right limb weakness. Imaging findings showed bilateral acute cerebral infarction in the parietal occipital lobe, bilateral anterior cerebral artery and middle cerebral artery smoke angiogenesis, bilateral PCA occlusion with distal smoke angiogenesis. Considering the medical history of the patient, the cause of the disease was diagnosed as embolic stroke of undetermined source. The patient′s consciousness has been recovered and the limb weakness has been improved after active symptomatic treatment. However, the blindness did not see any improvements. This case report aims to improve clinicians′ understanding of bilateral PCA embolization in patients with moyamoya syndrome so the occurrence of cerebral infarction can be effectively prevented.

Interleukin-33 (IL-33) is a new member of the IL-1 cytokine family which plays roles in the nucleus as a nuclear factor and is released by damaged or necrotic cells to act as a cytokine. It can be released via damaged or necrotic cells and functions as a cytokine. The released IL-33 activates the downstream NF-κB and MAPKs signaling pathways through the isomers of the specific receptor ST2 and the interleukin-1 receptor accessory protein (IL-1RAcP), resulting in danger signals and the activated multiple immune responses. IL-33 is abnormally expressed in various tumors and involves in tumorigenesis, development, and metastasis. Moreover, IL-33 can play both pro-tumor and anti-tumor roles in the same type of tumor.
Cytokines ; Humans ; Interleukin-33/genetics* ; MAP Kinase Signaling System ; NF-kappa B/metabolism* ; Neoplasms