Objective To study the early diagnosis of cutaneous T-cell lymphoma(CTCL).Methods DNA from39formalin-fixed,paraffin-embedded tissues of24cases of CTCL,2cases of dubious lymphoma,and4cases with non-specific erythroderma,was amplified by polymerase chain reaction(PCR),with special primers of TCR V?1-8,V?9,and J?1/?2to analyze T-Cell receptor?gene clonal rearrangement(TCR-GR clonal).The specimens from30patients with non-specific dermatitis were taken as negative control.Results Clonal of TCR V?1-8was demonstrated in38of39paraffin-embedded specimens.V?9-GR was shown in37of39specimens TCR?-GR was shown especially in13patients with MF of early stage,2patients with dubious CTCL,and4patients with non-specific erythroderma,as well as in6of30patients with histiologically nonspecific dermatitis which suggested that these6cases were"clonal dermatitis".Conclusion Clonal TCR?-GR may be detected in patients with early CTCL,even when the histologic findings are not unequivocally diagnostic.

Human avian-origin influenza A (H7N9)virus is a novel subtype of avian influenza A virus,which firstly emerged at the end of March 2013 in Shanghai and Anhui province.It rapidly spread in China within a short time,causing high morbidity and mortality,arousing fear and panic in public,and attracting extensive attention worldwide.The analysis of human H7N9 avian influenza virus gene shows a high affinity for α-2,6-linked sialic acid receptors expressed on human respiratory epithelial cells.At present,the sporadic cases of human H7N9 avian influenza virusare occasionally reported with an epidemic peaksat winter and spring.This article reviews clinical features,epidemiology and genetic characteristics of H7N9 avian influenza virus,proving scientific evidences foreffective prevention and control of H7N9 virus infection.

Objective To study the effect of 17-β estradiol on Collagen Ⅰ,lysyl oxidase like 1 (LOXL1),fibrinectin( FN )after stretch in the pelvic function dysfunction(PFD) patients vaginal wall fibroblasts cultured in vitro,and the effect in PFD pathogenesis.Methods Twelve patients with pelvic function dysfunction who under surgery in the second Hospital,Hebei Medical University from October 2009 to September 2010 were collected vaginal wall organization in this study.Use of tissue and collagenase digestion method for primary culture in the vaginal wall fibroblasts.After stretch with different concentrations of 17-β estradiol cultured fibroblasts.Total mRNA was extracted from fibroblasts and gene expression of Col Ⅰ,LOXL1,FN were measured.Results After stretch,the expression of Col Ⅰ ( 1.1872 ± 0.0733 vs 1.5035 ±0.0733,t =-4.815,P ＜0.01),LOXLI(0.7724 ±0.1873 vs 1.0855 ±0.0805,t =-5.111,P ＜0.01 ) were significant higher than before( P ＜0.01 ),the expression of FN (0.4290 ±0.1168 vs 0.4215±0.0830) was not significantly different ( P ＞0.05).The expression of all factor Col [ (3.0809 ±0.1862),LOXLI ( 1.5863 ±0.3241 ),FN( 1.1418 ± 1.0030) in high drug concentrations of 17-β estradiol were increased significant compared with controlled groups( P ＜ 0.01 ).Conclusions 17-β estradiol increased synthesis of extracellular matrix components from cultured vaginal wall fibroblasts of patient with pelvic floor dysfunction after stretch.Stretch and estrogen may play an important role in PFD pathogenesis.

Objective Radiation can cause multiple damages to tissues and organs.This study aimed to explore the protec-tive effect of Ganoderma lucidum polysaccharides ( GLPs) against the 60 Co-γray radiation injury in mice and provide an experimental basis for the clinical use of GLPs. Methods One hundred mice were randomly divided into five groups of equal number: normal control, gavage control, radiation control, high-dose GLPs, and low-dose GLPs.Models of radiation injury were made in the mice by whole-body exposure to 60 Co-γrays.Three days before and after mod-eling, the animals in the high-dose and low-dose GLPs groups were given GLPs intragastrically at the dose of 100 and 50 mg/kg respec-tively, once daily for 14 days.Then the 30 day survival rate and sur-vival time of the model mice were recorded and the changes in the pe-ripheral blood index, spleen index, and serum superoxide dismutase( SOD) activity were observed. Results GLPs significantly increased the 30-day survival rate and the mean survival time of the mouse models (P<0.05), decreased the reduction of WBC count in the peripheral blood, and shortened the time of WBC restoration ( P<0.05 ) .Furthermore, GLPs obviously improved the spleen index and SOD activity of the Co-γray irradiated animals. Conclusion GLPs, with a significant anti-radiation effect, can effectively raise the survival rate of the mice exposed to a lethal dose of 60 Co-γrays, reduce radiation injury to WBC and platelets, and increase the activity of SOD in irradiated mice.

Ataxins ; Humans ; Male ; Middle Aged ; Nerve Tissue Proteins ; genetics ; Spinocerebellar Ataxias ; genetics ; Trinucleotide Repeats

Objective to investigate therapeutic methods and effect of X-knife for on intracranial diseases. Method Recent effect of 44pqtients with cranial diseases by X-knife was observed. Radiological follow-up was performed on 40 cases with mean 5.65 months of followup time. Result 92.5% of tumors were controlled locally, stability and recovery rate was 90.0%. The local control of metastatic tumors of brain was higher, but most patients with metastatic tumors died of primary lesion. New metastatic lesions appeared in patients without panencephalic radiotherapy in 1～5months. Tumors of pineal region were sensitive to X-knife. Conclusion X-knife has a definite effect on intracranial diseases. For patients with tumors of pineal region complicated by serious hydrocephalus, shunting should be conducted before X-knife treatment. For patients with mild or morderate hydrocephalus, X-knife chould be utilized only under correct interventions such as dehydration. The local control rate of intracranial metastatic tumors was high, but survival time postoperation depended on panencephalic radiotherapy or control of primafry lision. For tumors with diameter＞ 3cm, pituitary tumors, brains stem tumors and tumors in cerebellopontine angle region repeated X-knife were suggested, which could improve cure rate and decrease complications.

Objective To investigate the clinical features and pathogenic genes of a familial hypokalemic periodic paralysis ( HOKPP).Methods PCR amplification and DNA sequencing were used to screen candidate genes of the HOKPP family members (CACNA1S, SCN4A, KCNE3), and the clinical features were carefully analyzed at the same time.Results The sequencing analyses of the SCN4A gene in the proband identified three nucleotide sequence mutations, which influenced the amino acid sequence of the skeletal sodium channel.One of the mutations was identified as a C/T heterozygous pattern at the 2111th nucleotide position in exon 13, resulting in a change from Thr to Met at the 704th amino acid position of the sodium channel protein.All affected patients carried the Thr704Met mutation, whereas unaffected family members did not.Clinical symptoms in this family followed an autosomal dominant inheritance pattern.Muscles weakness, pain and hypokalemia in the period between attacks were seen in all patients.Paralytic symptoms occurred early, lasted longer and recurred frequently, while cold was the main predisposing factor.With the progress of the disease, patients represented persistent weakness and atrophy in proximal muscles.Conclusions Mutation (Thr704Met) in the SCN4A gene should be responsible for this family.This mutation causes severe HOKPP and progressive muscle atrophy.

Objective To identify the specific genotype and analyze clinical features of spinocerebellar ataxias (SCAs) pedigree in the region of Yunnan Province.Methods Fourteen SCAs pedigrees and 183 blood samples of the family members were collected between January 2011 and July 2014 from Department of Neurology,First Affiliated Hospital of Kunming Medical College.Polymerase chain reaction (PCR) amplification,agarose gel electrophoresis and DNA sequencing technologies were utilized to identify the specific genotype of SCAs pedigree.Presymptomatic tests were carried out and the clinical features and genetic test results of patients were carefully analyzed.Results SCA3 was the most common subtype of SCAs in the Han nationality of Yunnan region.Nine of the 14 families were SCA3,only one family was SCA2.Additionally,there were four SCAs families that remained indeterminate.The patients with di-allele mutations (46/77) of SCA3 gene had early onset,rapid progression and serious clinical symptoms.Hereditary SCA3 and autonomic dominant polycystic kidney disease can happen simultaneously in a family.The proband SCA3 gene' s CAG repeat number is 28/76,and repetitions of the mutation allele are in all range.The PKD1 gene exon 23 is found to be in abnormal sequence.Conclusions SCA3 is the most common subtype of SCAs in the Han population of Yunnan region.There are 15/46 incomplete penetrance nutation and 46/77 di-allele mutations.It is possible that di-allele mutations make the disease worse and accelerate clinical course progression.SCA3 and polycystic kidney disease can uncommonly happen simultaneously in a family,which perhaps suggests there are interactions between the two disease-virulence genes.

Objective:To investigate the expression and mechanism of NF-κB signal pathway in murine lupus nephritis.Methods:The BXSB mice as well as C57BL/6 of 16 weeks were used.Transmission electron microscope and PAS were used to detect the pathological change of renal tissue.RT-PCR and ELISA were used to detect the expression of HMGB1 mRNA and protein.The expression of HMGB1,p- NF-κB,RAGE,IκB and PCNA protein was detected by immunohistochemical stain,FCM and Western blot.Results:The level of BUN in serum and Micro-albumin in urine of BXSB mice was higher than that in C57BL/6 mice.The expression of HMGB1 mRNA and HMGB1 protein level in peripheral blood increased significantly in BXSB group.Compared with those in control group,electron microscopy and PAS revealed the thickness of glomerular basement membrane(GBM),fusion of foot processes partly of epithelial dell and subepithelial electron-dense deposits in the renal tissue of BXSBA mice.Compared with that of control group,expression of PCNA was higher in glomeruli of BXSB mouse.HMGB1 protein over-expression localized in cytoplasm and extracellular milieu,especially in proliferative glomeruli in BXSB group,while the HMGB1 protein primarily confined to the nuclear of tubule in control group.In BXSB group,the expression of p-NF-κB and RAGE increased,while the expression of IκB decreased.There were positive correlation between the expression of HMGB1,RAGE and p-NF-κB protein (r=0.833,0.621,0.848,P＜0.01),while the expression of p-NF-κB protein negatively correlated with that of IκB.Conclusion:HMGB1 could activate NF-κB through combining with its receptor-RAGE,induce the form of proliferative glomerulonephritis by promoting the proliferation of inherent cell of glomeruli,which may play an important role in the murine lupus nephritis.

OBJECTIVE: To explore the molecular mechanism of a case where RhD genotyping did not match serological results. METHODS: The serological results of 8 members from two generations of this family were analyzed. And according to Mendelian law of inheritance, RhD genotyping, zygotic type determination and gene sequencing were performed for the family members. RESULTS: The proband and one of her cousins have the same RhD alleles, both of them have a 336-1G>A intron variant RhD allele and a complete RhD deletion allele. The variant alleles are inherited from two of their parents with blood relationship, while the complete-deleted alleles come from the other. 336-1G>A means that the last base G of the second intron of the RhD gene is mutated to A, which leads to a negative RhD serology and a positive genotype in the proband. CONCLUSION There was a rare 336-1G> A intron variant gene (RhD * 01N.25) in this family, which was a recessive gene relative to the RhD gene and resulted in RhD phenotype negative.
Alleles ; Female ; Genotype ; Humans ; Introns/genetics* ; Pedigree ; Phenotype ; Rh-Hr Blood-Group System/genetics*