Objective To study the expressions of HER2 and p16 in human endomctrial carcino-ms,and the relation with FIGO stage,cell differentiated degree.Methods Endometrial cancer was 46 cas-es,atypical hyperplasia was 10 cases,endometrial hyperplasia was 10 cases,normal endometrium was 20cases.The immunohistochemical S-P methods were used to detect the expression of HER2 and p16.Results The expression ofHER2in endometrial cancerwasmuch higherthan others(P＜0.01),moreover,the expression was increased with the increase of clinical stages(P ＜ 0.05) and the decrease of differentiated degree(P ＜ 0.05). The expression of p 16 in endometrial cancer was lower than others (P ＜ 0.05 ), and the expres-sion was reduced with the increase of clinical stages(P ＜ 0.01 ) and the decrease of differentiated degree(P ＜0.05).There was negative correlation between expression of HER2 and p16 in uterine endometrial cancer(r ＝ -0.4213, P＜ 0.01 ). Conclusions The expression of HER2 and p16 in endometrial cancer is associat-ed with the biological behavior of endometrial cancer. HER2 and p16 may be used as objective predictable indicators of endometrial cancer to guide the postoperative treatment.

Objective To identify the gene mutation of Chinese Charcot-Marie-Tooth (CMT) pedigrees and investigate the association of gene mutation to the clinical manifestations and electrophysiology,and the underlying mechanisms.Methods A total of 105 pedigrees with CMT in our hospital were enrolled from January,2007 to December 2013.The clinical features,CMT neuropathy score (CMTNS) and electrophysiological data were collected.Gene mutations were analyzed using multiplex ligation-dependent probe amplification (MLPA) and Sanger gene sequencing.Results We found 31 (29.5％) PMP22 duplication pedigrees,8 (7.6％) GJB1 mutation pedigrees,4 (3.8％) MFN2 mutation pedigrees,4 (3.8％) HSPB1 mutation pedigrees,3 (2.9％) MPZ mutation pedigrees and 1 (1.0％) PMP22 mutation pedigree.In Chinese Han population,the proportion of PMP22 duplication was relatively lower than that in western countries and manifested with classical clinical characteristics of CMT.Subjects with axonal CMT often presented with isolated lower extremity injury and with central nervous system involvement.Hereditary motor neuropathy might be underestimated in clinical setting and should be differentiated from motor neuron disease.Conclusions The gene frequency distribution in patients with CMT in Chinese Han population is different from that in patients from western countries.We should establish our own epidemiological data of CMT in Chinese Han population.

Laminopathies are genetic diseases that encompass a wide spectrum of phenotypes with diverse tissue pathologies and result mainly from mutations in the LMNA gene encoding nuclear lamin A/C. To date, at least 9 different human diseases, which superficially seem to share little with one another, result from LMNA mutations. The position of the mutation within LMNA appears to be associated with the phenotypes. This review gives an overview of genotype-phenotype relationship and describes recent advances in animal models and pathogenic mechanisms.

Objective:To observe the effects of Astragalus polysaccharides on antigen presentation of dendritic cells(DC).Methods:DC and CIK cells were generated by culturing PBMC of healthy blood donor.The typical DC and DC pulsed by Astragalus polysaccharides were co-cultured with CIK cells,respectively.Then the changes in the phenotypes of the DCs pulsed with Astragalus polysaccharides were determined.Cell surface markers were analysed by FACS method.IFN-? and IL-12 secreted by co-cultured cells were detected by ELISA.The cytotoxicity of effector cells on A549 cells in vitro were measured by MTT assays.Results:Astragalus polysaccharides could increase the expression of CD40,CD80 and HLA-DR on DC surface.The Astragalus polysaccharides pulsed DC-CIK cells resulted in an enhanced killing activity to A549 cells than that of unpulsd DC-CIK cells(P

Five compounds were isolated from marine sponge Aplysinopsis sp.collected from the South China Sea.Their structures were elucidated by ~1H-NMR,~(13)C-NMR and MS as (E)-3'-deimino-3'-oxoaplysinopsin(Ⅰ),(Z)-3'-deimino-3'-oxoaplysinopsin(Ⅱ),3-(2- oxopropyl )- 3-hydroxyind-olin-2-one(Ⅲ),1H-indole-3-carboxaldehyde(Ⅳ),5?,6?-epoxystigmasta -7-en-3?-ol(Ⅴ).CompoundsⅢ,Ⅴwere isolated from Aplysinopsis sp.for the first time.

BACKGROUND: The transplantation of microencapsulated cell is becoming a hotspot modality in the therapy of Parkinson disease (PD). The application of Alginate-polysysine-alginate (APA) is currently limited due to fragility and pericystic fibrosis although it has been used in clinic. In this study, the native Alginate-chitosan-alginate(ACA)microencapsulated pheochromocytoma cells (PC12 cells) are transplanted into the region of corpus striatum in the injured side of the brain of the PD rat model, the functional recovery of rotational behavior and pathological changes are also observed in the control, sham and treated groups.OBJECTIVE: To observe whether the transplantation of ACA microencapsulated PC12 cells into the brain can improve the rotational behavior in the rat model of PD.DESIGN: Randomized controlled experiment.SETTING: Dalian Research Institute of Physiochemistry, Chinese Academy of Sciences.MATERIALS: Totally 40 adult male Wistar rats with body mass of(220±10) g, ACA microcapsule and PC12 cells were used in this study.METHODS: The experiment was carried out in the animal experimental laboratory of Second Hospital, Jilin University and Dalian Research Institute of Physicochemistry, Chinese Academy of Sciences between May and December 2002. Native ACA were used to microencapsulate the PC12cells. These rats were randomly divided into the following three groups,treated group (10 rats received microencapsulated PC12 cell transplantation), control group (7 rats received unencapsulated PC12 cell transplantation) and sham group (6 rats received empty microencapsule transplantation). The transplantation site was the region of corpus striatum in the injured side of brain. The difference of rotational behavior included by apomorphine was compared before and after the transplantation in these rats,the morphological changes of the transplanted microcapsules and activity of the microencapsulated cells were also detected.MAIN OUTCOME MEASURES: ①Rotational behavior of the rats before and after transplantation. ②Pathological change in the regions of substantia nigra and corpus striatum. ③ The integrality of retrieved microencapsule and the bioactivity of retrieved PC12 cells.RESULTS: ① At the 4th week of transplantation, rotational behavior was significantly decreased in the encapsulated PC12 cells treated group compared with that of the groups received empty microencapsules transplantation [(6.9±2.8),(10.5±1.6) r/min, P ＜ 0.05].Tbis behavioral improvement could last at least three months. Although the unencapsulated PC12 cells also can improve the rotational behavior compared with before transplantation[(5.6±l.1 ), (9.5±1.5) r/min, P ＜ 0.05], which only lasted two months and fetal tumor formed in the skull of some rats. There was no significant difference in rotational behavior of the rats before and after transplantation in the empty microencapsule transplantation group. PC12 cells of retrieved microencapsulate grew well after re-culture, and have bioactivity.CONCLUSION: Transplantation of ACA microencapsulated PC12 cells into the brain can improve can improve the rotational behavior of rat PD model induced by apomorphine. ACA microcapsule can both isolate the host's immune system effectively and prevent the formation of tumor, and have a promising application in clinic.

Objective: To observe the pathological changes of the lens and anterior lens capsule of the patients with familial congenital aniridia, and discuss the histopathological etiology of the fragility of the anterior capsule and the significance of surgical project. Methods: Anterior lens capsules and lens specimens were obtained from aniridic patients during cataract surgery. The intraoperative behavior of each capsule was noted, after which the specimens were submitted for histopathologic evaluation and electron microscope examination. Results: The anterior lens capsule was extremely fragile and remarkably thin. Degenerative changes(degeneration, necrosis, loss) of the lens epithelium and discontinuity of the lens epithelium were found in some specimens. Proliferation and double layer of the epithelial cells in some area of the specimens can be seen also. Ply structure of the anterior capsule became thin or disappeared. Conclusion: Degenerative or proliferative changes of the lens epithelial cells were associated with the thinness and extreme intraperative fragility of the anterior lens capsules in familial aniridia with cataract. Greater awareness of anterior capsule fragility in some aniridic patients with cataract may reduce the risk of capsule complications and lead to safer surgical outcomes.

Objective To analyze the clinical,myopathological and genetic features in 5 female manifesting carriers of Duchenne muscular dystrophy (DMD).Methods The age of onset of these 5 patients were from birth to 54 years old,one of which had a family history of DMD.Two patients presented with proximal weakness,one with myalgia and dilated cardiomyopathy,one with limb weakness and ventricular septal defect,and one with exercise intolerance.Serum creatine kinase concentrations were between 1 000-31 815 U/L.Muscle biopsies were performed in 4 patients.Dystrophin gene mutation analyses were carried out in 5 patients by multiplex ligation-dependent probe amplification.Karyotype study was done in one patient who had no dystrophin gene mutation.Results Muscle biopsy revealed markedly decreased dystrophin expression in one patient and a mosaic pattern with some fibers lacking or partially expressing dystrophin in 3 patients.Four patients were identified carrying exonic deletions of dystrophin gene and one had t(x;5) (p21 ;p14).Conclusions The clinical manifestations and myopathological changes are more compatible with Becker muscular dystrophy.Chromosome translocation can be detected in Chinese female manifesting carrier.

Objective: To intensively investigate sporadic CMT patients, we have analyzed the LMNA gene in this study in a series of 32 unrelated CMT patients. Methods: Twelve exons of the LMNA gene were amplified from genetomic DNA. PCR products of each exon were analyzed by single strand conformational polymorphism (SSCP). Results: No abnormal SSCP pattern, suggesting no mutation in our CMT patients, was detected. Conclusion: The CMT diseases resulted from the mutations of LMNA gene were rare.

Objective To investigate the characteristics of muscle edema and fatty infiltration in thighs and relationship with clinical symptoms in Chinese patients with different phenotypes of dysferlinopathy.Methods A total of 32 patients were enrolled , including 13 limb-girdle muscular dystrophy 2B (LGMD2B), 13 Miyoshi myopathy (MM), 4 proximodistal myopathy and 2 hyper-creatine-kinase-emia.Clinical symptoms were evaluated using modified Gardner-Medwin and Walton ( GM-W) score.Muscle MRI was performed in thighs to observe fatty infiltration and edema.We then compared the age of onset , disease duration, GM-W score, muscle edema and muscle fatty infiltration between LGMD 2B and MM groups,and the relationship of muscle edema score and fatty infiltration score with disease duration and GM-W score in all patients.Results The median GM-W score was 4.00 (2.00,5.00) in all patients, 4.00 (3.00,4.50)in LGMD2B and 4.00(2.00,5.00)in MM, respectively.Muscle fatty infiltration appeared in 30 cases (93.75%), with the same pattern in LGMD2B and MM.The mean fatty infiltration score was 28.20 ±12.86 in all patients, 28.50 ±13.03 in LGMD2B and 29.00 ±12.63 in MM, respectively.Muscle edema appeared in 26 cases (81.25%) with same pattern in LGMB2B and MM.The mean edema score was 18.36 ±13.60 in all patients, 22.88 ±11.59 in LGMD2B and 16.77 ±13.80 in MM.The age of onset , disease duration, GM-W score, muscle fatty infiltration and edema score were not significantly different between LGMD2B and MM patients.Muscle fatty infiltration score significantly correlated with GM-W score (rs=0.737,P=0.000) and disease duration (rs=0.637,P=0.000).Conclusions Fatty infiltration and edema in thigh muscles are very common in patients with dysferlinopathy , with similar radiological changes in main subtypes.The muscle fatty infiltration can be used as a predictor of disease progression.