Objective To analyze the clinical and pathological features of lipid storage myopathy (LSM) caused by primary carnitine deficiency (CD).Methods The clinical data of 4 cases of possible LSM caused by primary CD were analyzed retorspectively.Results The clinical features of the 4 patients were subacute or chronic onset, proximal muscle weakness and exercise intolerance. Elevated levels of creatases were measured in serum and myogenic damage was found by EMG examination. Frozen sections of muscle biopsy samples showed many fibers contained numerous vacuoles which was stained by oil red O. No ragged red fiber (RRF) was seen in MGT stain. Type I fibers were more severely affected. In electron microscopy, the prominent abnormality was the presence of excessive amounts of fatty droplets in muscle fibers and subsarcolemmal regions with mild increased mitochondria.Treatment with glucocorticoid and energy supplement had been clinically beneficial. Conclusions Fatigue and muscle weakness are prominent manifestations in LSM caused by primary CD. The main changes are accumulation of lipid droplets in muscle specimen without prominent abnormality in structure in mitochondria. Good clinic effect may be caused by therapy with glucocorticoid.

Adolescent ; Child ; Child, Preschool ; Echocardiography, Three-Dimensional ; Female ; Heart Septal Defects, Atrial ; diagnostic imaging ; therapy ; Humans ; Male

Objective To study the neuroprotective effects of erythropoietin on intracerebral hemorrhage (ICH). Method The rat models of 1CH were produced by injecting autologous blood into caudate necleus by using stereotatic techique. One hundred ten male wistar rats were randomly divided into 4 groups, namely normal group,sham operation group, 1CU group, and EPO treatment group. The immunohistochemistry and TUNEL were used to detect expressions of Bc 1-2 and Bax,and apoptosis cells. LSD- t and Pearson correlation were used to analyzing data. Results The positive cells of TUNEL Bcl-2 and Bax in ICH group and EPO group obviously increased over 6 hours,and reached peak 72 hours later,and decreased over 120 hours,and the positive cells in different intervals significantly decreased in ICH group and EPO group compared with those in sham operation group (P < 0.01). The positive cells of TUNEL and Bax in EPO group in different intervals significantly decreased compared with those in ICH group (P < 0.01). The Bcl-2 positive cells in EPO group in different intervals significantly increased compared with those in ICH group (P < 0.01). The Bax protein expression, Bax/Bcl-2 and apoptosis presented positive correlation (P < 0.01). Conclusions Apoptosis may induce some brain injury after ICH,and EPO can decrease the number of apoptotic cells after ICH by up-regulating Bcl-2 and down-regulating Bax.

Objective To analyze the correlation between quantitative evaluation of high-resolution CT (HRCT) and pulmonary function tests (PFT) in chronic obstructive pulmonary disease (COPD), and evaluate the characteristics of PFT in different CT phenotypes of COPD. Methods 65 patients with COPD underwent CT chest scan and PFT. The dimensions of subsubsegmental apical bronchi of right upper lobes were measured , which included the following parameters:airway wall thickness (T), total airway diameter (D), and pulmonary artery (PA), ratio of airway wall thickness and pulmonary artery (T/PA), thickness diameter ratio (TDR), percentage of wall area (WA%) and percentage of airway luminal area (Ai%). The percentage of total lung area occupied by low attenuation area (LAA%) was measured by lung density software. The relationship between the measurements and PFT parameters were analyzed. Patients were classified into three phenotypes based on the presence of emphysema or bronchial wall thickening evaluated by HRCT. Phenotype A: without or with little emphysema (LAA% < 25%), with or without bronchial wall thickening; Phenotype E: emphysema without bronchial wall thickening (LAA%≥25%, T/PA < 30%); Phenotype M: emphysema with bronchial wall thickening (LAA%≥25%, T/PA≥30%). The characteristics of different CT phenotypes were analyzed. Results LAA% had a good correlation with PFT parameters. PA, T/PA, WA% and Ai% also had correlation with PFT parameters. There was 53 patients of Phenotype A, 12 patients of Phenotype M. PA, T/PA, LAA%and PFT were different in two groups. Conclusions LAA%and airway quantitative measurements in HRCT have certain correlation with PFT parameters. Patients with different CT phenotypes differs in PFT parameters , which can provide reference for clinical diagnosis and treatment.

Objective To determine the significance of change of insulin-like growth factor-1(IGF-1) and study the effect of IGF-1 on expression of Bcl-2 and Bax.Methods Male Balb/c mice were randomly divided into control group,coxsackie B3(CVB3) infection group(infection group),CVB3 infection with IGF-1 treated group.Animals were killed at d7,d14.The immunohistochemical studies and medical imagine analysis system were performed to evaluate the expression of Bcl-2 and Bax in myocardial tissue.Serum IGF-1 concentrations were assayed by radioimmunoassay(RIA).Results In infection group,the concentrations of IGF-1 were more decreased than that of control group and the expression of Bcl-2 reduced and Bax increased(P

Humans ; Moxibustion ; Depression ; Acupuncture Therapy ; Gastroesophageal Reflux ; Esophagitis, Peptic

Animals ; Education, Medical ; trends ; Humans ; Medicine, Chinese Traditional ; methods ; trends

Objective:To purify HLA-DR molecules. Methods: Anti-HLA-DR antibody L243 was purified and coupled with CNBr activated Sepharose 4B gel. Immunoaffinity column was used to purify HLA-DR molecules. Results:Twenty micrograms of HLA-DR molecules were isolated from about 5 g Epstein-Barr virus-transformed human B lymphoblastoid cell line RAJI lysates by affinity chromatography. The purified HLA-DR molecules existed in α/β heterodimers form and could bind to conformation-dependent antibody L243. These HLA-DR molecules were separated into two strands,α and β,by boiling denaturation. These results are the basis for studying MHC Ⅱ binding peptide motif and CD4＋ T cell epitopes of antigens in future.

Objective To explore vascular smooth muscle cell(SMC) proliferation and cell apoptosis during the development of abdominal aortic aneurysm(AAA). Methods The animal model of AAA was established in Wistar rats and the specimens were harvested at the 3rd day,and 1、2、3 and 4 week after the model initiation. In situ end-labeling of DNA fragments (TUNEL) was used to detect SMC apoptosis and immunohistochemical staining was applied to investigate the expression of SMC apoptosis markers(bcl-2,bax),proliferating cell nuclear antigen (PCNA) and ?-actin. Results TUNEL-positive and PCNA-positive SMC reached the maximum at 2～3 week and 1 week respectively;The count of TUNEL-positive SMC was less than PCNA-positive SMC during the period of day 3 to 1 week and that was vice versa from 2nd to 4th week with SMC amount significantly decreased;Bcl-2 and bax protein was strongly expressed at 1 week and 3 week after operation(all P

Serum tumor necrosis factor-?(TNF-?) and interleukin-6 (IL-6) levels were measured in patients with simple hyperuricemia or hyperlipidemia combined with hyperglycemia and hyperuricemia.The results showed that TNF-?,IL-6 levels in patients with hyperuricemia were higher than those in normal controls (both P