Anemia, Aplastic ; diagnosis ; etiology ; Benzene ; poisoning ; Expert Testimony ; Humans ; Male ; Occupational Diseases ; diagnosis

Congresses as Topic ; Drug Delivery Systems ; Hematology ; Humans ; Lymphoma, Mantle-Cell ; drug therapy ; United States

Objectives To report the clinical and myopathological features in a case with Danon disease caused by a novel mutation in the lysosome-associated membrane protein-2 ( LAMP2 ) B gene.Methods A 16-year-old boy presenting progressive muscle weakness and atrophy, accompanied with spinal ankylosis was clinically evaluated including electrocardiogram, echocardiogram and electromyogram.Muscle biopsy was carried out in the patient.The histological staining, ultrastructural examination, and immunohistochemical staining with antibodies against dystrophin, merosin and C5b9 were performed in frozen sections.LAMP2B sequence was analyzed in the patient and his parents.Results Electrocardiogram in the patient showed Ⅰ atrioventricular block; echocardiogram revealed focal hypertrophy in mitral valve with mild cardiac diastolic dysfunction; electromyogram indicated myogenic and neurogenic patterns.Muscle pathology study revealed numerous vacuoles located at the fibers.Dystrophin, merosin and C5b9 was immuno-positive around the vacuoles.Electron microscopy revealed vacuoles surrounded by sarcolemma and abnormal lysosome aggregating at the fibers.A novel nonsense mutation ( K402X ) in the LAMP2B gene has been identified in the patient but not in his mother and 50 normal controls.Conclusions Danon disease caused by K402X mutation in C-terminus of LAMP2B presented benign course of the disease characterized by prominent vacuolar skeletal myopathy, mild cardiac abnormalities and peripheral neuropathy.

Objective To further understand the cellular events of myocarditis,we have examined the myocardial mitochondria structure and activity of ATPase in mice with myocarditis,and observe the interventional effect of different doses of carptopril.Methods Sixty male Balb/c mice were randomly divided into 5 groups:infected coxsackie B3 virus(CVB3)group,infected CVB3 and treated with carptopril(in a dose of 10,30,or 100 mg/kg,twice a day)groups and control group.Captopril was administered after infection.The activity of Na+-K+-adenosine triphosphatase(Na+-K+-ATPase)and Ca2+-adenosine triphosphatase(Ca2+-ATPase)of myocardial mitochondrial as well as the morphological of myocardial mitochondrial were investigated on day 14.Results The activity of mitochondrial Na+-K+-ATPase and Ca2+-ATPase were significantly higher(Pa0.05).Conclusions The favorable effects of captopril exerts on myocyte mitochondria were shown in a dose-dependent manner.Thirty and 100 mg/kg,twice a day captopril protecs the membrane integrity and thus plays a role at the recovery of depressed mitochondrial Na+-K+-ATPase and Ca2+-ATPase activity and also in myocytes injury.

Adult ; Female ; Humans ; Lymphoma, T-Cell ; pathology ; physiopathology ; Lymphoma, T-Cell, Cutaneous ; pathology ; physiopathology ; Myositis ; physiopathology

BackgroundReactive oxygen intermediate products lead to the oxidative injury of cells.Retinal pigment epithelial(RPE) cells produce lots of reactive oxygen intermediate products during the swallow of out disc,but how this procedure cause the persistent oxidative injury of RPE cells is poorly understood.Objective The present study was to evaluate the effect of non-lethal H2 O2 -induced persistent oxidative injury on RPE barrier in vitro.MethodsARPE-19 cell links were inoculated on 96 well plate at the density of 8×104 cells/L and the cell climbing slice of 24 well at the density of 4× 104 cells/L.The cells were cultured in DMEM/F12 medium,and the cells cultured for 24 hours in free-serum medium were used in the experiment.0-0.6 mmol/L of H2O2 were added into the medium.Cellular viability was assessed using 3- ( 4,5-dimethylthiazol-2-yl ) -5- ( 3-carboxymethoxyphenyl ) -2- ( 4-sulfophenyl ) 2H-tetrazolium(MTS) assays.Transepithelial electrical resistance (TER) was used to detect cell monolayer forming time after cultureinTrsnswellchamber.Thepermeabilityof cellmonolayer was examinedbyrhodamine isothiocyanate-dextran transepithelial flux,and immunofluorescence was used to investigate the distribution of the junction protein zonula occludens (ZO-1).ResultsThe total difference was found in the cell vitality(A490) among the different concentrations of H2 O2 ( F =991.501,P =0.000 ).Compared with 0 mmoL/L H2 O2 group,the A490 values was gradually lowed from 0.20 mmol/L H2O2 group to 0.60 mmol/L H2O2 group (P ＜ 0.05 ).H2O2 at the concentrations of ＞0.20 mmol/L lowed the viability of RPE cells.The TER value was ( 24.9 ± 1.3 ) Ω · cm2 in 11 days,( 17.8± 1.4)Ω · cm2 in 7 days after inoculation on transwell chamber,showing a significant difference between them (t=5.228,P=0.014).RPE formed the stable tight junction on day 15 with the TER value (25.9±0.9 ) Ω · cm2.The leakage amount ( relative fluorescence intensity ) of the dextran was 255.39 ± 16.44 in non-H2 O2 control group,exhibiting a significant lowing in comparison with free-cell blank group (433.08±51.53)( t =12.515,P =0.006 ),and that of H2 O2 group was significant increased in comparison with non-H2 O2 control group ( t =14.412,P=0.005).Immunofluyorescence assay showed intact intercellular ZO-1 junction in non-H2O2 control group,but the breakage of ZO-1 junction was seen in H2O2 group.ConclusionsThe results indicate that non-lethal H2O2 can destroy RPE barrier and further lead to the persistent oxidative injury of RPE cells.

Objective To investigate the relapse risk assessment for patients with acute promyelocytic leukemia(APL)through testing PML-RAR? fusion gene by real-time quantitative polymerase chain reaction(RQ-PCR).Methods Relative copies of PML-RAR? fusion gene were measured in 25 patients with APL in phases of first diagnosis,complete remission(CR)and relapse.The minimal residual disease(MRD)situations were also monitored in 6 of the 25 patients.Results Different PML-RAR? fusion gene expression levels were observed in patient groups of different phases of the disease.(P

ObjectiveTo investigate the changes and significance of urine kidney injury molecule-1(KIM-1) in liver transplant recipients concurrent with early-stage acute kidney injury (AKI).MethodsThe clinical data of orthotopic liver transplantation in 50 cases was retrospectively analyzed.According to the Acute Kidney Injury Network (AKIN) criteria and whether there was AKI for recipients after operation,the recipients were divided into AKI group (27 cases) and non-AKI group (23 cases).Serum creatinine (SCr),urine creatinine (UCr) and urine KIM-1were determined at the scheduled time points,and relationship between urine KIM-1and AK1was analyzed.By using the receiver operating characteristic (ROC) and the area under the curve (AUC),the diagnostic accuracy of urine KIM-1for AKI was evaluated.ResultsThe level of SCr reached the highest in two groups at 24 h postoperation,that in AKI group was significantly higher than in non-AKI group (P＜0.05),and then gradually decreased to the preoperative level.The level of urine KIM-1was significantly increased immediately at the time of portal vein reperfusion in two groups,and that in AKI group reached the peak at 2nd h after portal vein reperfusion,significantly higher than in non-AKI group (P＜0.01),which continued 12 h after the portal vein reperfusion.The results showed that the sensitivity was 82.6％ and the specificity was 88.9％ when the urine KIM-114.19 ng/g Ucr was taken as the cutoff to the diagnosis of AKI two h after portal vein repeffusion.ConclusionThe level of urine KIM-1is a reliable biomarker to diagnose AKI after liver transplantation.The intraoperative changes of urine KIM-1may be helpful to early prediction of AKI,for recipients with preoperative normal renal function.

In this paper, the chloroplast psbK-psbI intergenic spacers of 18 species of Dendrobium and their adulterants were amplified and sequenced, and then the sequence characteristics were analyzed. The sequence lengths of chloroplast psbK-psbI regions of Dendrobium ranged from 474 to 513 bp and the GC contents were 25.4%-27.6%. The variable sites were 71 while the informative sites were 46. The inter-specific genetic distances calculated by Kimura 2-parameter (K2P) of Dendrobium were 0.006 1-0.058 1, with an average of 0.028 4. The K2P genetic distances between Dendrobium species and Bulbophyllum odoratissimum were 0.093 2-0.120 4. The NJ tree showed that the Dendrobium species can be easily differentiated from each other and 6 samples of the inspected Dendrobium species were identified successfully through sequencing the psbK-psbI intergenic spacer. Therefore, the chloroplast psbK-psbI intergenic spacer can be used as a candidate marker to identify Dendrobium species and its adulterants.
Chloroplasts ; DNA, Chloroplast ; genetics ; DNA, Plant ; genetics ; DNA, Ribosomal Spacer ; genetics ; Dendrobium ; classification ; genetics ; Plants, Medicinal ; classification ; genetics

Esophageal Diseases ; complications ; Esophagus ; pathology ; Female ; Foreign Bodies ; complications ; Hematoma ; complications ; Humans ; Middle Aged ; Pharyngeal Diseases ; complications ; Pharynx ; pathology