The ATP2C1 gene mutation in one case of familial benign chronic pemphigus was investigated. One patient was diagnosed as familial benign chronic pemphigus by pathology, ultrastructral examination and clinical features. Genomic DNA was extracted from blood samples. Mutation of ATP2C1 gene was detected by polymerase chain reaction (PCR) and DNA sequencing. The results showed that deletion mutation was detected in ATP2C1 gene in this patient, which was 2374delTTTG. No mutation was found in the family members and normal individuals. It was concluded that the 2374delTTTG mutation in ATP2C1 gene was the specific mutation for the clinical phenotype for this patient and was a de novo mutation.
Calcium-Transporting ATPases/*genetics ; DNA Mutational Analysis ; Pemphigus, Benign Familial/*genetics ; Sequence Deletion

Chronic myelogenous leukemia (CML) has a high proportion in hematologic malignancy.Past decade,the appearance and development of tyrosine kinase inhibitors (TKIs) is the milestone of the treatment of CML.TKIs have antitumor effect with inhibition of the phosphorylation of kinases and the downstream signal transduction.In recent years,many large medical institutions at home and abroad worked on clinical experiment researches to investigate the mechanism of TKIs and how to choose TKIs in CML patients.This work is of great significance to the clinic.

Objective To study the effects of short hairpin RNA (shRNA) targeting STAT3 gene on the proliferation and apoptosis of A375 human malignant melanoma cells.Methods Sense and antisense oligonucleotides with small hairpin structures targeting STAT3 gene were designed,synthesized and cloned into the plasmid vector psiRNA-hHlneo after annealing.Cultured A375 cells were divided into 3 groups: control group receiving no treatment,psiRNA-H1 group transfected with empty plasmid,and psiRNA-H1/STAT3 group transfected with the recombinant plasmid containing the shRNA.After additional culture for different durations,reverse transcription PCR and Western blot were performed to detect the expression of STAT3 mRNA and protein,methyl thiazolyl tetrazolium (MTT) assay to evaluate cell proliferation,flow cytometry to assess cell cycle and apoptosis.Results The expression level of STAT3 mRNA and protein in A375 cells in psiRNA-H1/STAT3 group (0.2136 ± 0.0626,0.8214 ± 0.043,respectively) were significantly lower than that in the control group (0.7826 ± 0.0701,3.1693 ± 0.0846,respectively,both P ＜ 0.01) and psiRNA-H1 group (0.8518 ± 0.0783,3.218 ± 0.078,respectively,both P ＜ 0.01 ).The inhibition rates of cell proliferation at 24,48 and 72 hours were 21.35％ ± 2.12％,32.52％ ± 2.64％ and 40.4％ ± 3.08％ respectively in psiRNA-H1/STAT3 group,statistically different from those in the control group (1.39％ ± 0.53％,3.05％ ± 1.16％,4.41％± 1.42％,respectively,all P ＜ 0.01) and psiRNA-H1 group (2.63％ ± 1.38％,5.84％ ± 2.47％,10.32％ ±2.48％,respectively,all P ＜ 0.01).Flow cytometry showed a statistical increase in cell apoptosis rate in psiRNA-H1/STAT3 group compared with the control and psiRNA-H1 group (81.06％ ± 2.10％ vs.26.28％ ±0.47％ and 27.31％ ± 1.05％,both P ＜ 0.01 ).The psiRNA-H1/STAT3 group exhibited a higher percentage of cells at G0/G1 phase (68.43％ ± 4.00％) but a lower percentage of cells at S phase (17.4％ ± 2.05％) compared with the control group (60.07％ ± 2.47％,P ＜ 0.05; 28.40％ ± 2.09％,P ＜ 0.01 ) and psiRNA-H1 group (60.29％ ± 2.26％,27.34％ ± 3.63％,both P ＜ 0.05 ).Conclusions The small interference RNA targeting STAT3 gene can specifically down-regulate the expressions of STAT3 mRNA and proteins in,inhibit cellular proliferation of,and induce apoptosis in,A375 cells.

To investigate the role of progesterone receptor (PR) expression in malignant melanoma (MM), PR and proliferative cell nuclear antigen (PCNA) expression were immunohistochemistrically evaluated in a series of 35 specimens of MM, and the correlation between the immunohistochemistrical findings and clinicopathological data was also analyzed. PR expression was detected in 25.7% (9/35) of the patients with MM. No PR expression was observed in nevi. PR expression was inversely correlated with PCNA expression (r=-0.353, P=0.026). PR expression was slightly increased in females, subjects aged under 55 y, those with ulceration, non-acral subtype and diagnosis delay longer than 1 y, but the difference was not statistically significant. Selective expression of progesterone receptor in malignant melanoma might be correlated with inhibited tumor growth.
Gene Expression Regulation, Neoplastic ; Immunohistochemistry ; Melanoma/*metabolism ; Models, Biological ; Prognosis ; Proliferating Cell Nuclear Antigen/*metabolism ; Receptors, Progesterone/*biosynthesis ; Receptors, Progesterone/genetics ; Skin/metabolism ; Skin Neoplasms/metabolism

Objective To summarize the management of cardiopulmonary bypass(CPB) for infants below 10 kilograms with congenital heart diseases.Methods From Jan 2010 to Apr 2011,the clinical datas of 122 infants aged from 1.5 months to 2 years with body weight 3 to 10 kilograms,who underwent open heart surgery under mild or moderate hypothermia CPB were retrospectively analyzed.Results Among all the 122 infants,CPB time was 13 ～ 118 min [(62.69 ± 21.48) min],aortic cross-clamp time was 0 to 86 min [(35.47 ± 19.51) min].All patients were spontaneous resuscitation and successfully weared from the machine,no severe complications associated with CPB occurred,3 infants died (2.46％,3/122) after operation.Conclusion Using membrane oxygenator,circuit tubing and artery filter with less priming,and highflow perfusion during CPB,maintaining hemodynamics stable,holding reasonable hematocrit and colloid osmotic pressure,good myocardial protection and ultrafiltration are the significant elements of the management of CPB in infants with weight less than 10 kilograms.

Objective To observe how different measuring methods of corneal curvature produce affect postoperative corneal a-stigmatism correction after implantation of TORIC artificial lens .Methods To measure 4 teams of age-related cataract patients complicated with regular astigmatism of more than 1 .0D by the procedure of manual keratometer ,IOL Master ,auto keratometer and Pentacam respectively .The Toric artificial lenses were precisely placed in appropriate position in phacoemulsification surgery .We observed the uncorrected visual acuity (UCVA) ,best corrected visual acuity (BCVA) in 1D ,1W ,1M ,3M before and after the sur-gery ,corneal astigmatism after the surgery ,as well as anticipated and consequent residual astigmatism .Results The variance analy-sis of absolute-value deviation between anticipated residual astigmatism (ARA) and best corrected visual acuity (BCVA) is P<0 .0001 ,the above difference was statistically significant ;we consider that the astigmatic deviation measured by the four methods is different ;besides the deviation of paired comparison results between Master-team (0 .322) and auto-team (0 .242) ,auto-team and manual-team (0 .218) ,manual-team and Pentacam-team(0 .107) is more than 0 .05 and not statistically significant ,all the remaining paired comparison results are statistically significant ,(P<0 .05) ,the Pentacam-team (0 .082) is the minimum deviation ,while the IOL Master-team (0 .422) is the maximum one .Conclusion The measuring result to estimate the exact value of Acrysof Toric IOL by Pentacam is more accurate than by other methods .

Objective To investigate MR findings and analyze the misdiagnosed cases of pituitary macroadenoma.Methods MR features of 1 90 patients of pituitary macroadenoma confirmed by operation and pathology were reviewed.Results 1 6 cases were mis-diagnosed as craniopharyngioma,chordoma,or meningioma.Among the sixteen cases,eight cases with cyst degeneration and hemor-rhage were misdiagnosed as craniopharyngioma;five cases with clival and sphenoid sinus destruction were misdiagnosed as chordo-mas;three cases with suprasellar and anterior cranial fossa extension were misdiagnosed as meningiomas.Conclusion Craniophar-yngioma,chordoma and meningioma should be considered in the differential diagnosis of atypical pituitary macroadenoma.The com-prehensive analysis should be based on a variety of signs.

In order to investigate the association of genotypes of HLA-DRB1 and HLA-DQB1 alleles with the genetic susceptibility of chronic urticaria (CU), genotypes of HLA-DRB1 and HLA-DQB1 genes were detected by polymerase chain reactions with sequence-specific primers (PCR-SSP) in 42 patients with CU (19 men and 23 women, mean age 30.67+/-12.45 y old as well as 193 racially matched healthy persons in ethnic Han from Hubei provinece. Gene frequencies of HLA-DRB1 * 12, * 0901 (RR=3.11, chi2=7. 579, P=0.006; RR= 2.47, chi2 =5.684, P=0.017) were significantly increased in CU patients as compared with that in healthy people. Gene frequencies of HLA-DQB1 * 05 (RR=0.26, chi2=6.683, P=0.01) were significantly decreased in CU patients. It was suggested that CU was found strongly associated with HLA-DRB1 * 12, * 0901 and HLA-DQB1 * 05, the former might be the genetic markers for susceptibility to CU, but the latter might play a resistive role.
Alleles ; Chronic Disease ; Gene Frequency ; Genetic Predisposition to Disease ; Genotype ; HLA-DQ Antigens/*genetics ; HLA-DR Antigens/*genetics ; Polymerase Chain Reaction ; Urticaria/*genetics

Objective To investigate the malnutrition status among the elderly in age care institutions in Shanghai suburb and analyze its potential influential factors.Methods The MiniNutritional Assessment (MNA) was adopted to evaluate the nutritional status of the 190 elderly people in age care institutions.The dietary supply by the institution canteen and the quantity of residual food left by the malnourished elderly people were weighted.Results In the age care institutions,the malnutrition rate reached 23.7％,47.9％ of the elderly people were at the risk of malnutrition,and only 28.4％ of the elderly people were well nourished.Logistic regression analysis showed that the major influential factors for malnutrition in the elderly people were food intake ability,mobile capability,chewing and swallowing ability,ageing and mental Illness.The malnourished elderly people had the most residual meat and vegetables,and insufficiency of nutrient intake was the main cause for the malnutrition in the elderly people.Conclusions The elderly people in age care institutions in Shanghai suburb have the higher risk of malnutrition.The malnutrition occurs under influence of many factors,of which some are unavoidable,however,some factors like dietary factors can be changed to improve the nutritional status of the elderly people in age care institutions.

Objective:To study microwave-assisted extraction technique of flavonoids from Ophiopogon japonicus. Methods:The effect of the parameters,i.e.ratio of solid to liquid,microwave treatment time,microwave power and volume ratio of ethanol on extraction amount of flavonoid were analyzed by single factor experiment.Results:Optimum processing data were determined as follows:90.0% ethanol as extracting solvent,stock ratio 1:14(g/ml) ,microwave extracting for 4 minutes at the power of MED. The extraction rate was 39.7% higher than that of non-microwave's.Conclusion:Extraction of flavonoids by microwave from Ophiopogon japonicus is an eficient method.