OBJECTIVETo investigate the clinical and lab features of sibling brother and sister both with Duchenne muscular dystrophy (DMD).

METHODSWe conducted comprehensive clinical and lab investigations including the test of serum enzymes, electromyography (EMG), electrocardiography, color Doppler echocardiography, HE staining of skeletal muscles, immunohistochemical study of dystrophin and utrophin, multiple ligation probe amplification (MLPA) on exon 1-79 of dystrophin gene, and short tandem repeat-poly- merase chain reaction of CA repeats located in dystrophin gene.

RESULTSThese two patients were confirmed to suffer from DMD. They were characterized by typical features of DMD including typical clinical manifestations, increased serum enzymes, EMG presenting myogenic impairment, HE staining presentation belonging to DMD, negative dystrophin in brother, and inconstantly positive on the sarcolemma of sister. Furthermore, no deletion or duplication was found in the 1-79 exons of dystrophin gene. The suffering brother and sister carried the same maternal X chromosome.

CONCLUSIONSCarriers of DMD gene show typical clinical and laboratory manifestations of DMD. Comprehensive examinations should be performed for such carriers.

Dystrophin ; genetics ; Female ; Genetic Linkage ; Heterozygote ; Humans ; Male ; Muscular Dystrophy, Duchenne ; genetics ; metabolism ; physiopathology ; Siblings

OBJECTIVETo investigate the incidence of myopic retinopathy and its risk factors.

METHODSThe fundus of 1449 patients (2879 eyes) with myopia were retrospectively examined. The clinical relationship between myopic retinopathy and diopter, age, and sex was analyzed.

RESULTSMyopic retinopathy was detected in 413 eyes (14.35%). Posterior pole retinal lesions were detected in 22 eyes (0.76%). Peripheral retinal lesions were found in 396 eyes (13.75%). According to their diopters, the myopic patients were divided into four groups: low, medium, high and super high myopia The incidence of peripheral retinal lesions was 4.18%, 8.72%, 19.18%, and 37.44% in these four groups, which significantly different (chi2 = 178.594, P<0.001). By age these patients were divided into three groups: I group, age <25; II group, age 25-34; III group, age >34. The incidences of peripheral retinal lesions in these three groups were 8.11%, 15.34%, and 24.59%, which were significantly different (chi2 = 76.090, P<0.001). The incidence of retinal lesion in male and female was 9.32% and 16.07%, respectively, which was significantly different (chi2 = 24.886, P<0.001). Posteriorpole retinal lesions were only detected in the highly or super highly myopic patients, all of them were more than 25 years. The incidence of posteriorpole retinal lesions in the highly and super highly myopia group was 0.86% and 6.67% respectively, which was significantly different (chi2 = 31.898, P<0.001). The incidence of posteriorpole retinal lesions in group II and group III was 0.55% and 3.55% respectively, which was significantly different (chi2 = 22.523, P<0.001).

CONCLUSIONSThe prevalence of retinal lesions in myopic patients is higher than that of emmetropia. The incidence of peripheral retinal lesions increases in patients with deeper diopters. Posterior pole retinal lesions usually occur in the myopic patients whose age are more than 25 years and diopter more than - 6.00 D. Careful examination of fundus is essential for early detection and timely treatment.

Adult ; Female ; Humans ; Male ; Myopia ; complications ; Retina ; pathology ; Retinal Diseases ; complications ; pathology ; Retrospective Studies ; Young Adult

OBJECTIVETo study mechanisms of reduction of the malignant activities of human naso-pharyngeal carcinoma cell CNE-2L2 induced by ectopic expression of BCSC-1 gene.

METHODSDNA was stained with propidium iodide and assayed upon a flow cytometer. Chromosomes were stained with Hoechest 33258. Adhesion of CNE-2L2 cells was detected by cell aggregation test. Protein expression on CNE-2L2 cells was examined by Western blot.

RESULTSCell cycle analysis showed that the percentage of CNE-2L2 cells was 55.1%, 43.4%, and 39.4% in G0/G1 phase, 25.2%, 28.7%, and 30.9% in S phase, and 19.7%, 27.9%, and 29.7% in G2/M phase for the cell with ectopic expression of BCSC-1 gene, wild type cell (W cells), and the cell transduced with the mock (M cell). Many mitotic cells were found in W cells and M cells. In contrast, almost no mitotic cell was observed in the cells with ectopic expression of BCSC-1 gene. Ectopic BCSC-1 expression resulted in cell aggregation, enhanced expression of E-cadherin, cx-catenin, and p53.

CONCLUSIONSEctopic BCSC-1 expression causes enhancement of adhesion of CNE-2L2 cells associated with enhanced expression of E-cadherin and alpha-catenin, arrest of cell in G1 phase, which may be associated with enhanced expression of p53. These alteration may play a role in the reduction of malignant activities of the cells with ectopic expression of BCSC-1 gene.

Cell Adhesion ; Cell Cycle ; physiology ; Cell Line, Tumor ; Humans ; Nasopharyngeal Neoplasms ; Neoplasm Proteins ; biosynthesis ; genetics

OBJECTIVETo study the effect of human alpha-mannosidase Man2c1 transgene on tumor growth and metastasis in mice.

METHODSHepatoma cell H22 or squamous epithelial carcinoma cell S180 was subcutaneously inoculated into the right armpit of mice (wild type mice and 28#, 35#, and 54# transgenic mice). Tumor size was measured every week. Mice were sacrificed on day 9 or 10 and then the tumors were exercised and weighted. Tumors and lungs were fixed in formaldehyde and sectioned. The sections were stained with hematoxylin/eosin and examined under microscope. The red blood cells in spleen were destroyed by Tris-NH4Cl. Natural killer (NK) cell activity was detected with Yac-1 cell as target.

RESULTSH22 and S180 tumors grew faster in all the three transgenic mice (28#, 35#, and 54#) than in wild type mice. The average size and weight of tumors between the transgenic mice and wild type mice were significantly different (P<0.05). Most tumors in the transgenic mice invaded the surrounding tissues. In contrast, nearly all the tumors in wild type mice were capsulized. Three of 10 28# transgenic mice, 5 of 10 35# transgenic mice, 3 of 10 54# transgenic mice, and 1 of 10 wild type mice showed lung metastasis of H22 tumor. Two of 6 28# transgenic mice, 3 of 6 35# transgenic mice, 1 of 6 54# transgenic mice, and 0 of 6 wild type mice showed lung metastasis of S180 tumor. No difference of NK activity in spleen cells was observed between the transgenic mice and wild type mice.

CONCLUSIONShMan2c1 transgene promotes growth, invasion, and metastasis of transplanted H22 and S180 tumors in mice. hMan2cl transgene does not affect NK activity in splenocytes.

Animals ; Cell Line, Tumor ; Humans ; Killer Cells, Natural ; immunology ; Lung Neoplasms ; secondary ; Mannosidases ; genetics ; Mice ; Mice, Transgenic ; Neoplasm Invasiveness ; Neoplasm Transplantation ; Neoplasms, Experimental ; immunology ; metabolism ; pathology ; Spleen ; immunology ; Transgenes

OBJECTIVETo investigate the gene expression and potential functions of transforming growth factor-beta1 in osteophyte development.

METHODSA total of 25 specimens were obtained from individuals undergoing total knee arthroplasty due to severe primary osteoarthritis. Tissue samples were embedded in paraffin wax and made into sections. Hematoxylin and eosin and toluidine blue stainings were performed. The expressions of collagen I, IIa, IIb, and X were detected by immunohistochemistry. Based on the histomorphology of cellularity and matrix abundance, the glycosaminoglycans content, and the differential expressions of collagen I, IIa, IIb, and X, the osteophytic tissues were classified. For each different type of osteophyte, expressions of transforming growth factor-beta1 were detected by immunohistochemistry and in situ hybridization, and results were analyzed using the image analysis system.

RESULTSFive different types of osteophytes were identified as type I, type II, type III, type IV, and type V. Transforming growth factor-beta1 mRNA was more and intensely expressed in chondrocytes of type II and III osteophytes, and was less in other types of osteophytes. The difference was significant (P<0.05, P<0.01).

CONCLUSIONTransforming growth factor-beta1 mRNA is mainly expressed in early-mid stages of osteophytes and may play an important role in promoting the proliferation and differentiation of chondrocytes in the early stages of osteophyte development.

Chondrocytes ; metabolism ; pathology ; Humans ; Osteoarthritis, Knee ; metabolism ; pathology ; Osteophyte ; metabolism ; pathology ; RNA, Messenger ; biosynthesis ; Transforming Growth Factor beta1 ; biosynthesis ; genetics

OBJECTIVETo study the safety, biodistribution, and dosimetry of myocardial perfusion imaging agent 99Tc(m)N-NOET in 10 healthy volunteers.

METHODS744-792 MBq of 99Tc(m)N-NOET was injected to each volunteer. Safety parameters and adverse event was measured in 24 hours of injection. Biodistribution was studied by whole-body imaging 1, 30 minutes, 1, 2, 4, 8, and 24 hours after the injection of 99Tc(m)N-NOET. The estimation of dosimetry was based on the standard medical internal radiation dose method using MIRDOSE 3.0 analysis program. Myocardial single photon emission computed tomography (SPECT) imaging was performed at 1 and 4 hours after injection.

RESULTSNo undesirable effects were reported by the subject during 24 hours after injection of 99Tc(m)N-NOET. No clinically significant changes were found in vital signs (heart rate, blood pressure, and electrocardiogram). No biochemical aspects and serology changes were measured. The myocardial SPECT imaging was clear. Cardiac uptake of 99Tc(m)N-NOET was as high as 2.68% at 2 hours after injection. The heart to lung ratio was more than 1 from 30 minutes after injection, reaching a maximum of 1.91 +/- 0.53 at 2 hours after injection. Radiation dosimetry calculations indicated an effective absorbed dose of 1.28 x 10(-5) Sv/MBq. The dosimetry in each main organ is lower then 50 mGy given 740 MBq of 99Tc(m)N-NOET in once imaging.

CONCLUSIONS99Tc(m)N-NOET exhibits high cardiac uptake and low estimated effective absorbed dose. It's a safe myocardial perfusion imaging agent.

Heart ; diagnostic imaging ; Humans ; Myocardium ; metabolism ; Organotechnetium Compounds ; adverse effects ; pharmacokinetics ; Radiation Dosage ; Radiopharmaceuticals ; adverse effects ; pharmacokinetics ; Thiocarbamates ; adverse effects ; pharmacokinetics ; Tissue Distribution ; Tomography, Emission-Computed, Single-Photon

OBJECTIVETo evaluate the effectiveness and safety of subcutaneous low molecular weight heparin (LMWH) used in acute management of patients with non-ST segment elevation acute coronary syndrome (ACS).

METHODSA total of 102 patients with non-ST segment elevation ACS were treated for at least 48 hours ( > or =5 times) with subcutaneous nadroparin (1 mg/kg each 12 hours). All 102 patients underwent coronary angiographies (CAG) within 8 hours after LMWH injection, followed by immediate percutaneous coronary intervention (PCI).

RESULTSAnti-Xa activity at the time of catheterization was (0.62 +/- 0.18) IU/ml, and 90% of the patients had anti-Xa activity > 0.5 IU/ml. No death, myocardial infarction relapse or emergent revascularization occurred after PCI. Thrombosis and/or embolism occurred in 2 patients (3.5%) during PCI. Mild hemorrhage was observed in 4 patients (3.9%) of PCI group and in 2 patients (4.4%) in CAG group. No major hemorrhage occurred.

CONCLUSIONPCI within 8-12 hours of the last dose after > or =48 hours nadroparin subcutaneous injection seems to be effective and safe.

Acute Coronary Syndrome ; blood ; therapy ; Angioplasty, Balloon ; Anticoagulants ; adverse effects ; therapeutic use ; Factor Xa Inhibitors ; Humans ; Nadroparin ; adverse effects ; therapeutic use

OBJECTIVETo initially observe the effect of classical endotracheal intubation on endotracheal bacterial contamination and evaluate the validity of protective endotracheal intubation on reducing endotracheal bacterial contamination.

METHODSNinety elective patients undergoing general anesthesia for hysterectomy were randomly assigned to two equal groups. Group II received endotracheal intubation protected by sterilized transparent sleeve while group I correspondingly adopted unprotective classical endotracheal intubation. Endotracheal swab sampling and bacterial counting were performed on the principle of aseptic processing before endotracheal intubation and extubation, respectively.

RESULTSBacteria were found in 62 of 180 samples. The difference of bacterial counting between before extubation and before intubation was (-0.3 +/- 35.6) 100 CFU/ ml in group II, lower than that in group I, which was (21.4 +/- 56.7) 100 CFU/ml (P<0.05).

CONCLUSIONEndotracheal bacterial contamination may be caused by unprotective classical endotracheal intubation and could be reduced by protective endotracheal intubation.

Anesthesia, General ; Bacteria ; isolation & purification ; Female ; Humans ; Hysterectomy ; Intubation, Intratracheal ; adverse effects ; methods ; Trachea ; microbiology

OBJECTIVETo investigate the epithelial growth factor (EGF) expression of EGF gene-transfected keratinocytes and its effect on cell proliferation after grafting.

METHODSNewborn Balb/c mouse keratinocytes and gene transfected keratinocytes were seeded on the surface of acellular dermal matrix and cocultured in different ratios as follows: 1:1, 1:3, or 1:5 1 week after culture. The composite skin was grafted onto the full-thickness wound in Balb/c mouse. Specimen was harvested at interval after grafting and underwent the immunohistochemistry staining for EGF and proliferating cell nuclear antigen (PCNA).

RESULTSImmunohistochemical staining showed EGF was expressed in the newly generated epidermis 1-2 week after grafting of the composite skin comprising Balb/c mouse keratinocytes and gene-transfected keratinocytes (at the ratio of 1:5). One week after surgery, Anti-PCNA positive basal cells were more than that in composite skin containing Balb/c mouse keratinocytes alone (P<0.01).

CONCLUSIONThe gene-transfected keratinocytes expresses EGF and promotes the proliferation of keratinocytes in the early stage after transplantation.

Animals ; Animals, Newborn ; Cell Proliferation ; Cells, Cultured ; Coculture Techniques ; Epidermal Growth Factor ; biosynthesis ; genetics ; Keratinocytes ; cytology ; metabolism ; transplantation ; Mice ; Mice, Inbred BALB C ; Skin ; injuries ; Skin Transplantation ; Tissue Engineering ; Transfection

OBJECTIVETo study the effects of hemorrhage combined with closed fracture on delayed type hypersensitivity (DTH) responses in mice and to explore the relevant mechanisms.

METHODSDTH responses were induced with 2, 4-dinitro-1-fluorobenzene (DNFB) or fluorescein isothiocyanate (FITC) skin painting after injury, and single cell suspensions from pooled inguinal lymph nodes were analyzed by flow cytometry for FITC+ cells and dendritic cells (DC). The ability of cells from pooled inguinal lymph nodes was tested 24 hours after skin painting with DNFB in transferring sensitization for DTH to DNFB.

RESULTSThe DTH responses after injury decreased significantly compared with that of sham-injured mice (P<0.01). Flow cytometry showed that FITC+ cells, FITC+/CD11c+ cells, and FITC+/CD11c+ / major histocompatibility complex II+ cells were all significantly decreased after trauma (P<0.01). The ability of cells to transfer sensitization for DTH to DNFB also declined (P<0.01).

CONCLUSIONHemorrhage combined with closed fracture decreases the DTH responses in mice, which may be attributed to the reduced antigen-presenting capacity of DC in the injured mice.

Animals ; Dendritic Cells ; immunology ; Fractures, Closed ; complications ; immunology ; Hemorrhage ; complications ; immunology ; Hypersensitivity, Delayed ; immunology ; Mice