Gastric cancer is one of the most commonly seen malignant tumors,and is the fourth leading cause of morbidity and second leading cause of mortality among malignancies worldwide. The genesis of gastric cancer is the result of interaction between genetic and environmental factors,and is a multi-factor and multi-step carcinogenesis. As one of the most important members in the heat shock protein(HSP)family,HSP70 plays a molecular chaperone role,and is involved in body specific immunity and innate immunity. Studies have demonstrated that over expression of HSP70 often correlates with the genesis and development of gastric cancer. This article reviewed the advances in study on relationship between HSP70 and gastric cancer.

Background Optical nerve damage of glaucomatous eyes is associated with intracranial pressure.Conventional method of evaluating intracranial pressure is to measure cerebrospinal pressure by lumber puncture.However,the measurement of intraorbital optical nerve parameters,a novel method of evaluating intracranial pressure,is introduced in this field.Objective This study was to measure and analyze the intraorbital optic nerve sheath diameter (ONSD) and cross sectional area (ONSA) in normal population using multi-slice spiral CT.Methods This study protocol was approved by Clinical Ethic Committee of Shenzhen Chinese Traditional Medical Hospital and followed Hersinki Declaration.Informed consent was obtained from each individual prior to any medical examination.One hundred and five eyes of 105 normal persons with normal cerebral CT image were enrolled in Shenzhen Chinese Traditional Medical Hospital from January 2012 to September 2013.Cerebral volume was scanned in all the individuals by 64 slice spiral CT.The brain images were obtained for the curve planar rebuilding of intraorbital optical nerve on image post-processing workstation.The maximum and minimum of ONSD and the ONSA in axial sections at 3,6,9,12 and 15 mm far away from globe wall were measured using a standardized technique to analyze the change of optical nerve parameters at different point locations.These parameters were compared in different gender or eyes.The correlation among age and the optical nerve parameters at 3 mm far away from globe wall was evaluated by multivariate regression analysis.Results The average maximal ONSDs were (6.24±0.47), (5.56±0.44),(5.18±0.43),(4.82±0.41) and (4.69±0.41) mm;the average minimal ONSDs were (5.56±0.50),(4.97± 0.41) ,(4.55±0.35),(4.26±0.39) and (4.10±0.40) mm;the average ONSAs were (27.68±4.40),(22.02±3.35) , (18.74± 2.75) , (16.34±2.72) , (15.40±2.68) mm2 at 3,6,9,12 and 15 mm far away from posterior eyeball wall,respectively, showing significant differences in the maximal/minimal ONSDs and ONSAs among the different point locations (F =218.329,215.906,246.924, all at P =0.001).No significant differences were found in the maximal/minimal ONSDs and ONSAs between male and female or between the right eyes and left eyes (gender:t=1.805,P=0.074;t=1.930,P=0.056;t=1.329,P=0.187;eyes:t=0.724,P=0.471;t=1.562,P=0.121;t=1.424,P=0.158).No significant correlations were seen between age and maximal/minimal ONSDs or ONSAs with the coefficients of 1.873,7.415 and-0.853 correspondingly (P =0.847,0.460,0.637).Conclusions Intraorbital section of optical nerve can be rebuilt using standardized technique after scanning of 64 slice spiral CT.The cross section of intraorbital optic nerve sheath is oval in shape and the optic nerve is thinning with the increase of distance far away posterior eyeball wall in normal populatuion.

Objective:To analyze the clinical and molecular genetic characteristics of a Chinese family with congenital cataract-microcornea syndrome.Methods:The method of pedigree investigation was adopted.A Chinese Han family with congenital cataract-microcornea syndrome was recruited in Xiamen Eye Center of Xiamen University.All the family members received detailed ophthalmologic examination including the best corrected visual acuity, intraocular pressure measurement by handheld applanation tonometry, slit lamp biomicroscopy, color fundus photography, B-scan ultrasonography, corneal diameter, anterior segment optical coherence tomography, ultrasound biomicroscopy, corneal endoscopy, and corneal topography.Genomic DNA was extracted from peripheral venous blood from some patients and unaffected family members.Targeted high-throughput DNA sequencing was performed on the proband.The sequencing chip contained 188 known pathogenic genes related to lens abnormalities.Suspected pathogenic genes were verified by Sanger sequencing in phenotypically normal family members to identify the co-segregation and the disease-causing gene.Bioinformatics analysis was performed to analyze the pathogenicity of variants by REVEL.Conserved protein domains were analyzed by InterPro.Physicochemical property of the mutant protein was analyzed by ProtParam.The deleteriousness of the protein was predicted by PolyPhen-2.Homology of the variants in pathogenic gene was analyzed by NCBI website to compare the conservation among various species.This study followed the Declaration of Helsinki.The study protocol was approved by the Ethics Committee of Xiamen Eye Center of Xiamen University (No.XMYKZX-LW-2009-003).Written informed consent was obtained from each subject prior to entering the study cohort.Results:There were 39 members of 4 generations in this family including 11 patients with an autosomal dominant inheritance pattern.Clinical features of the patients included congenital cataract and microcornea.No obvious abnormality was found in ophthalmic and general examination.A heterozygous mutation c. 61C>T in the CRYAA gene was found, resulting in the mutation of the amino acid from arginine to tryptophan (p.Arg21Trp) at position 21, consistent with co-segregation.The number of cationic cluster in the mutant protein decreased, and the hydrophilicity and stability were reduced.The variant was predicted to be deleterious and was highly conserved in multiple species. Conclusions:A novel heterozygous mutation c.61C>T p. Arg21Trp in CRYAA gene is considered as the causal gene of this family.It is the first time this variant has been reported in China.

Objective To analyze the main ingredients and investigate the anti-psoriasis effect in the standard decoction of Lithospermum. Methods The extraction rate was determined by extract determination method, and the content of total polysaccharide and total phenolic acid was evaluated by spectrophotometry. Moreover, the effects of different concentrations of the standard decoction of Lithospermum on skin lesions induced by imiquimod (IMQ) in psoriatic mice were observed. Results The extracting rate was 4.65 ％, the total polysaccharide content was 1.182 mg/ml and the total phenolic acid content was 3.506 mg/ml. The different concentrations of the standard decoction of Lithospermum could ameliorate the scales, erythema and psoriasis-like mice skin and reduce the thickness of epidermis. Conclusions The standard decoction of Lithospermum could improve the psoriasis-like lesions induced by imiquimod in mice and possess the anti-psoriasis effect.

Organ shortage is one of the important factors restricting the development of human organ transplantation. The identification and referral of potential donors determine the total scale of organ donation. Whether potential donors can be identified and referred is the most important reason for the difference of organ donation rates in different regions. This paper interprets the chapter of the identification and referral of potential donors in the Guide to the Quality and Safety of Organs for Transplantation (6th edition) issued by European Union in order to provide reference for the staff of organ procurement organization and related medical personnel in China and improve the organ donation rate in China.

Congenital generalized lipodystrophy type 1 (CGL1) is an autosomal recessive genetic disease caused by mutations in AGPAT2 gene. The main clinical mainifestations include body subcutaneous fat loss, muscle hypertrophy, obvious subcutaneous veins, pseudoacromegaly, hirsutism, and acanthosis nigricans. What′s more, CGL1 is always accompanied by metabolic diseases. Therefore, it is easily misdiagnosed as metabolic syndrome, type 2 diabetes, polycystic ovary syndrome, acromegaly, or Cushing′s syndrome. Meanwhile, it is difficult to distinguish it from partial lipoatrophy syndrome. In this article, we present clinical and molecular characteristics of a patient with CGL1 and review mutations reported in literature to replenish current knowledge about this orphan disease.

Cytochrome P450 1A (CYP1A), one of the major CYP subfamily in humans, not only metabolizes xenobiotics including clinical drugs and pollutants in the environment, but also mediates the biotransformation of important endogenous substances. In particular, some single nucleotide polymorphisms (SNPs) for genes may affect the metabolic ability of endogenous substances, leading to some physiological or pathological changes in humans. This review first summarizes the metabolism of endogenous substances by CYP1A, and then introduces the research progress of SNPs, especially the research related to human diseases. Finally, the relationship between SNPs and diseases is discussed. In addition, potential animal models for gene editing are summarized. In conclusion, CYP1A plays an important role in maintaining the health in the body.

Organic anion transporting polypeptide 1B1 and 1B3 (OATP1B1/3) as important uptake transporters play a fundamental role in the transportation of exogenous drugs and endogenous substances into cells. Rat OATP1B2, encoded by the gene, is homologous to human OATP1B1/3. Although OATP1B1/3 is very important, few animal models can be used to study its properties. In this report, we successfully constructed the S knockout (KO) rat model using the CRISPR/Cas9 technology for the first time. The novel rat model showed the absence of OATP1B2 protein expression, with no off-target effects as well as compensatory regulation of other transporters. Further pharmacokinetic study of pitavastatin, a typical substrate of OATP1B2, confirmed the OATP1B2 function was absent. Since bilirubin and bile acids are the substrates of OATP1B2, the contents of total bilirubin, direct bilirubin, indirect bilirubin, and total bile acids in serum are significantly higher in KO rats than the data of wild-type rats. These results are consistent with the symptoms caused by the absence of OATP1B1/3 in Rotor syndrome. Therefore, this rat model is not only a powerful tool for the study of OATP1B2-mediated drug transportation, but also a good disease model to study hyperbilirubinemia-related diseases.

Cholesterol is an important precursor of many endogenous molecules. Disruption of cholesterol homeostasis can cause many pathological changes, leading to liver and cardiovascular diseases. CYP1A is widely involved in cholesterol metabolic network, but its exact function has not been fully elucidated. Here, we aim to explore how CYP1A regulates cholesterol homeostasis. Our data showed that CYP1A1/2 knockout (KO) rats presented cholesterol deposition in blood and liver. The serum levels of low-density lipoprotein cholesterol, high-density lipoprotein cholesterol and total cholesterol were significantly increased in KO rats. Further studies found that the lipogenesis pathway (LXRα-SREBP1-SCD1) of KO rats was activated, and the key protein of cholesterol ester hydrolysis (CES1) was inhibited. Importantly, lansoprazole can significantly alleviate rat hepatic lipid deposition in hypercholesterolemia models by inducing CYP1A. Our findings reveal the role of CYP1A as a potential regulator of cholesterol homeostasis and provide a new perspective for the treatment of hypercholesterolemia.