Objective To explore dynamic response of serum lipids and relationship with body mass index(BMI)after fat meal in obese children and adolescents. Methods The subjects were 31 obese children and adolescents (BMI ≥ 25 kg/m2) and 30 controls (BMI

Child ; Female ; Humans ; Langer-Giedion Syndrome ; diagnosis

Adolescent ; Adult ; Female ; Humans ; Male ; Neurofibromatoses ; diagnosis ; genetics ; Pedigree

The aim of this study was to investigate the clinical features and DGUOK gene mutations of an infant with mitochondrial DNA depletion syndrome (MDS). The patient (more than 7 months old) manifested as hepatosplenomegaly, abnormal liver function, nystagmus and psychomotor retardation. Genetic DNA was extracted from peripheral blood samples of the patient and her parents. Targeted Exome Sequencing was performed to explore the genetic causes. Sanger sequencing was carried out to confirm the detected mutations. The sequencing results showed that the patient was a compound heterozygote for c.679G>A and c.817delT in the DGUOK gene. The former was a reportedly pathogenic missense mutation of maternal origin, while the latter, a frameshift mutation from the father, has not been described yet. The findings in this study expand the mutation spectrum of DGUOK gene, and provide molecular evidence for the etiologic diagnosis of the patient as well as for the genetic counseling and prenatal diagnosis in the family.
Female ; Humans ; Infant ; Mitochondrial Diseases ; genetics ; therapy ; Mutation ; Phosphotransferases (Alcohol Group Acceptor) ; chemistry ; genetics

OBJECTIVEThe purpose of this study was to investigate the clinical significance of THY1 protein expression in epithelial ovarian cancer.

METHODSImmunohistochemistry (IHC) and terminal deoxynucleotidyl transferase-mediated dUTP nick end-labeling (TUNEL) staining were used to detect the protein expression of THY1, Ki67 and cell apoptosis in 76 epithelial ovarian cancers by tissue microarray. The correlation between THY1 expression and patients' clinical features was analyzed.

RESULTSOf the 76 epithelial ovarian cancer samples, 64 were informative for IHC and TUNEL assays and 42 (65.6%) among them showed down-regulated/loss expression of THY1 protein. A significant positive correlation of THY1 protein expression with clinical stage and distant metastasis was observed in this ovarian cancer cohort (P < 0.05). The more advanced the tumor stage, the more frequency of loss expression of THY1 protein. In addition, the mean positive rate of Ki67 staining in tumors with down-regulated/loss expression of THY1 was 33.7% +/- 3.5%, significantly higher than that in the tumors with normal expression of THY1 (17.3% +/- 6.1%, P = 0.0027). However, no significant correlation was observed between THY1 protein expression and tumor cell apoptosis as well as patients' survival in this series (P > 0.05).

CONCLUSIONDown-regulated/loss expression of THY1 protein in epithelial ovarian cancer is significantly correlated with cancer cell proliferation and metastasis in the epithelial ovarian cancer, and it may be used as one of the new molecular biomarkers to predict the disease progression in patients.

Adult ; Aged ; Apoptosis ; Cystadenocarcinoma, Mucinous ; metabolism ; pathology ; Cystadenocarcinoma, Serous ; metabolism ; pathology ; Down-Regulation ; Female ; Follow-Up Studies ; Gene Expression Regulation, Neoplastic ; Humans ; Ki-67 Antigen ; metabolism ; Middle Aged ; Neoplasm Metastasis ; Neoplasm Staging ; Ovarian Neoplasms ; metabolism ; pathology ; Survival Rate ; Thy-1 Antigens ; metabolism

The aim of this study was to investigate the effect of evodiamine on the proliferation and the immune function of thymocytes and splenocyte of mice from three germlines, which were 8 weeks old masculinity BALB/c, C57BL/6 and F1 hybridization mice. Cells of thymus and spleen were harvested and prepared as unicellular suspension. Cell proliferation was detected by MTT method, while the concentration of IL-2 was detected by ELISA, mRNA levels of bcl-2 and cdk2 in cells treated with evodiamine were detected by RT-PCR, the apoptosis rate and intracellular reactive oxygen species (ROS) concentration were analyzed by FCM, and the protein levels of BCL-2, CDK2 and BAX were determined by fluorescence microscope. The results indicated that at 0.5, 0.75 and 1 micromol/L, evodiamine inhibited the proliferation and externalization of thymocytes and splenocytes stimulated with ConA (p < 0.05). At 0.75 micromol/L, evodiamine inhibited the secretion of IL-2, decreased the mRNA level of bcl-2 and cdk2, and induced apoptosis of thymocytes and splenocytes (p < 0.05). Intracellular ROS concentration increased significantly after treatment with evodiamine for 12 hours (p < 0.05). The death rate increased at a prolong period of time. After treatment with evodiamine for 24 and 48 hours, the cells were divided into two groups, one of which was negatively stained by 2 7-dichlorofluorescein (DCF), which indicated that ROS level decreased significantly in the dying cells. It is concluded that evodiamine inhibits proliferation and induces apoptosis of thymocytes and splenocytes from different germline mice, and at the same time decreases secretion of IL-2 through down-regulating bcl-2 and cdk2 levels.
Adjuvants, Immunologic ; pharmacology ; Animals ; Cyclin-Dependent Kinase 2 ; genetics ; metabolism ; Drugs, Chinese Herbal ; chemistry ; Male ; Mice ; Mice, Inbred BALB C ; Mice, Inbred C57BL ; Plant Extracts ; isolation & purification ; pharmacology ; Proto-Oncogene Proteins c-bcl-2 ; genetics ; metabolism ; Quinazolines ; isolation & purification ; pharmacology ; RNA, Messenger ; genetics ; metabolism ; Species Specificity ; Spleen ; cytology ; immunology ; Thymus Gland ; cytology ; immunology

Objective To observe the effects of enhanced exercise and combined vitamin D and calcium supplementation on muscular strength and fracture occurrence in postmenopausal women with a high risk of osteoporosis.Methods Totally 614 postmenopausal women at high risk factors of osteoporosis were enrolled in Dongcheng district of Beijing and randomized into four groups:group A(control group,n=173),group B(regular Tai Chi exercise,n=171),group C(calcium 600 mg/d+VitD800 U/d,n=139),and group D[calcium 600 mg/d+25 hydroxyl vitamin D(25OHD) 0.25 μg/d,n=131].Muscular strength was measured at baseline and one and two years after intervention.Bone turnover markers were measured at baseline and during the two-year follow-up.Falls and fractures were recorded.Results The incidence of 25OHD<50 nmol/L was approximately 92.6%.During the follow-up,the left grip strength decreased significantly two years after intervention(t=-3.252,P=0.001)in group A.Right grip strength decreased significantly in group B(t=2.460,P=0.015)while left grip strength improved significantly in group C(t=-2.051,P=0.043)one year after intervention.In group D,muscular strength in both 12-month and 24-month did not change compared with baseline(both P>0.05).Furthermore,serum procollagen type I N-terminal propeptide elevated significantly in group A(t=-2.962,P=0.004),group B(t=-2.888,P=0.005),and group C(t=-2.441,P=0.016),whereas β-C-terminal telopeptide of type I collagen decreased significantly in group B(t=2.285,P=0.024)and group D(t=2.596,P=0.011)two years after intervention.Conclusion Enhanced exercise and combined calcium vitamin D supplementation may help sustain muscle strength in postmenopausal women,while calcium and vitamin D supplementation may improve muscular strength within a short period of time.

OBJECTIVETo investigate the value of ultrasonographic grading with high-frequency probes in differentiating benign and malignant breast tumors.

METHODSSixty-four women (mean age 44.5-/+13.7 years) with 79 breast tumors underwent high-frequency ultrasonography to examine the tumor number, size, aspect ratio, shape, boundaries, encapsulation, pseudopod, internal and rear echoes, calcifications, blood perfusion, abnormality lymph nodes in the axilla. The tumors were graded based on these findings using a 10-point grading system.

RESULTSBetween the 46 women with benign tumors and 18 with malignant tumors, no significant differences were found in the mean tumor number (1.5-/+1.3 vs 1.1-/+0.3, P>0.05) or size (55.0-/+19.2 mm vs 19.8-/+8.3 mm, P>0.05), but the mean age (41.4-/+12.4 years vs 52.4-/+14.1 years) and ultrasonographic grade (2.8-/+2.2 vs 7.3-/+1.7, P<0.05) differed significantly. The ultrasonographic grade of the breast tumors showed an obvious correlation to the nature of the tumors (r=0.695, P<0.001).

CONCLUSIONGrading of breast tumors with high-frequency ultrasonography helps evaluate the nature of the tumors, and a higher score suggests increased probability of malignancy.

Adult ; Aged ; Breast Diseases ; diagnostic imaging ; pathology ; Breast Neoplasms ; diagnostic imaging ; pathology ; Diagnosis, Differential ; Female ; Humans ; Middle Aged ; Neoplasm Grading ; Ultrasonography, Mammary ; methods ; Young Adult

OBJECTIVETo assess the efficacy of the Coronary Heart Disease (CHD) Capsules worked out by Prof. Deng --in improving quality of life of CHD patients of qi deficiency with phlegm and blood stasis syndrome.

METHODAccording to the WHO's diagnosis criteria of CHD, a total of 93 stable angina patients were divided into 3 groups using the single blinded method. The groups were evenly distributed into CHD Capsule treated group (CHDC), isosorbide dinitrate control group (ID), and Compound Prescription Danshen Droplet Pills control group (CPDDP). Two courses of treatment lasting for 6 months were given. During the courses of treatment, the following parameters were observed: clinical symptoms of angina pectoris, ECG change, treadmill exercise test, 36 items in short form of health survey (SF-36) and Seattle Angina Questionnaire (SAQ) scale.

RESULTSAfter 6 months of treatment, all the three groups showed good curative effect in angina pectoris, ECG and treadmill exercise test, differences between them had no statistical significance. The CHDC group showed a better result in nitro-glycerine stopping or alleviation rate and in improving symptoms than the other groups (P < 0.05). The general health, vitality, role-emotional, mental health and reported health transition in the CHDC group were significantly better than those in the control groups (P < 0.05). The scores in physiological functioning role, physiological function and pain alleviation were not different among the three groups.

CONCLUSIONProf. DENG Tie-tao's CHDC is effective in treating CHD with qi deficiency, phlegm and blood stasis and also in improving the quality of life. CHDC is more suitable to be used in long-term treatment than isosorbide dinitrate. The SF-36 and SAQ can be used to appraise the curative effect of traditional Chinese medicine agents for CHD angina pectoris.

Aged ; Angina Pectoris ; drug therapy ; etiology ; Capsules ; Cardiovascular Agents ; Coronary Disease ; complications ; drug therapy ; Drugs, Chinese Herbal ; therapeutic use ; Female ; Humans ; Isosorbide Dinitrate ; therapeutic use ; Male ; Medicine, Chinese Traditional ; methods ; Middle Aged ; Phytotherapy ; Plant Preparations ; Quality of Life ; Salvia miltiorrhiza ; Single-Blind Method ; Treatment Outcome

The child was a 9-year-old girl, and sought medical advice due to "proteinuria for over a month". Renal biopsy result showed focal segmental glomerulosclerosis with diffuse vacuolization of glomerular podocytes and tubular epithelial cells. The child was diagnosed as type Ⅱ sialidosis with a compound heterozygote mutation in neuraminidase 1 gene for c.239C>T(p.Pro80Leu), c.220G>C(p.Val74Leu) and c.205A>G(p.Arg69Gly). Her father was proved to carry the first mutation, and her mother carried the other two, respectively. The report aims to improve the clinician's understanding of the rare disease. Early diagnosis can help avoid overuse of immunosuppressants, guide treatment reasonably and improve prognosis.