OBJECTIVETo characterize molecular and cytogenetic abnormalities in six 46, XX males, and to investigate the clinical manifestations and underlying mechanisms in such patients.

METHODSClinical data of six XX male patients were collected. Karyotyping, multiple polymerase chain reaction (PCR) and fluorescence in situ hybridization (FISH) were utilized to detect and locate the sex determining region (SRY) gene.

RESULTSPCR and FISH showed that all patients were SRY-positive XX males. All patients have their SRY gene located at the tip of derivative X chromosomes, which have resulted from translocation between short arms of X and Y chromosomes. High resolution karyotyping at 550-750 band level has revealed that the translocation breakpoints were at Xp22.33 and Yp11.2 in three patients. In the remaining patients, the breakpoints were either at Xp22.32 and Yp11.31 or Xp22.31 and Yp11.2. The breakpoints at Xp22.32, Xp22.31 and Yp11.31 were rarely reported. Genotype-phenotype correlation analysis indicated that the clinical manifestations were age-specific. Four adult patients have come to clinical attention due to infertility, with typical features including azoospermia and testis dysgenesis, whereas poorly developed secondary sexual characteristics and short stature were main complaints of adolescence patients, and short stature was the sole symptom in a child patient.

CONCLUSIONCombined karyotyping, PCR and FISH are important for the analysis of XX males. Particularly, high resolution karyotyping is valuable for the refinement of chromosome breakpoints and detailed analysis of genotype-phenotype correlation.

46, XX Disorders of Sex Development ; genetics ; Adolescent ; Adult ; Child, Preschool ; Chromosomes, Human, X ; Chromosomes, Human, Y ; Genetic Association Studies ; methods ; Humans ; Karyotyping ; methods ; Male ; Sex Chromosome Aberrations ; Translocation, Genetic ; Young Adult

Objective To study the influence on the tumor after percutaneous intra-tumor injection of ~(32)P-GMS in liver cancer as well as its suitable dose.Methods 24 New Zealand rabbits were used to establish the animal model of VX-2 liver cancer,and divided into A,B,C and D groups with individually 37,74,111 and 148 MBq of ~(32)P-GMS being injected,respectively;and then pathological changes of tumor were observed by light and electron microscope respectively.Result The dose of ~(32)P-GMS was obviously correlated with the radioactivity damage of tumor cells.In the A and B groups,the tumor cells were not observed to disappear completely after injection of ~(32)P-GMS,but in C group,tumor cells were almost completely disappeared and surrounded by a lot of connective tissue.Although the tumor cells were found to disappear completely in D group,normal liver tissues were also involved.Conclusion Percutaneous intra-tumor injection of ~(32)P-GMS with suitable dose that may induce the tumor tissue to be maximally damaged and may also provide some significances to prevent the tumor metastasis.

OBJECTIVETo investigate the risk factors for selective devascularization in patients with portal hypertension.

METHODSThe clinical data of 160 patients with portal hypertension underwent selective devascularization were retrospectively analyzed. All the patients were divided into high-risk group and low-risk group according to the postoperative complications. Thirty-two clinical factors were analyzed using logistic regression.

RESULTSSingle-factor analysis showed that history of jaundice, Child-Turcotte-Pugh classification, total bilirubin (before the operation), prolongation of prothrombin time, pre-operative free portal pressure, ascites, leukocyte count (1 week after the operation) and hemoglobin (1 week after the operation) were significantly different between the high-risk group and low-risk group (P < 0.05). Logistic regression analysis showed that decrease of free portal pressure, total bilirubin (before the operation), prolongation of prothrombin time, ascites, leukocyte count (1 week after the operation) and hemoglobin (1 week after the operation) were still significantly different between the two groups (chi2 = 53.337, P < 0.01).

CONCLUSIONSThe risk factors of selective devascularization in patients with portal hypertension are decrease of free portal pressure, pre-operative total bilirubin, prolongation of prothrombin time, ascites, post-operative leukocyte count and hemoglobin.

Adult ; Aged ; Female ; Humans ; Hypertension, Portal ; surgery ; Logistic Models ; Male ; Middle Aged ; Portasystemic Shunt, Surgical ; adverse effects ; methods ; Postoperative Complications ; etiology ; Prognosis ; Retrospective Studies ; Risk Factors ; Young Adult

OBJECTIVETo investigate the renin-angiotensin system (RAS) in mesenteric adipose tissues and effect of angiotensin II on adipocyte differentiation.

METHODSThirty normal 8-week-old male Wistar rats were divided into groups on normal diet and high-fat diet. The rats on high-fat diet for 24 weeks developed the metabolic syndrome respectively. The mRNA and protein expression of mesenteric adipose tissue were measured by reverse transcription-polymerase chain reaction (RT-PCR) and Western blot. Lipid drop in 3T3-L1 preadipocytes and mature adipocytes were observed using oil-red O staining. The fluorescence microscope was used to detect cytosolic-free calcium in 3T3-L1 preadipocytes and mature adipocytes.

RESULTSThe expressions of angiotensinogen, angiotensin converting enzyme, angiotensin II receptor type 1 in mesenteric adipose tissue were significantly increased in rats with metabolic syndrome compared with those in rats on normal diet (P <0. 05, P <0. 01). After administration of angiotensin II , no lipid droplet in 3T3 -L1 preadipocytes and adipocytes were observed, however, intensive lipid droplet in adipocyte was found after administration of captopril and candesartan. Angiotensin II increased the intracellular-free calcium concentration in preadipocytes (P < 0. 01 ) , which was blocked by captopril and candesartan; in contrast, angiotensin II effect was blunt in mature adipocyte. Captopril and candesartan partially recovered the angiotensin II -mediated increase of cytosolic-free calcium.

CONCLUSIONRAS in the mesenteric adipose tissues is active in rats with metabolic syndrome, and antagonization of RAS can recover the lipogenesis of adipocyte.

Adipocytes ; metabolism ; Adipose Tissue ; metabolism ; Angiotensin II ; pharmacology ; Angiotensinogen ; biosynthesis ; Animals ; Benzimidazoles ; pharmacology ; Calcium ; metabolism ; Captopril ; pharmacology ; Cells, Cultured ; Male ; Metabolic Syndrome ; physiopathology ; Peptidyl-Dipeptidase A ; biosynthesis ; RNA, Messenger ; biosynthesis ; Rats ; Rats, Wistar ; Receptor, Angiotensin, Type 2 ; biosynthesis ; Renin-Angiotensin System ; physiology ; Reverse Transcriptase Polymerase Chain Reaction ; Tetrazoles ; pharmacology

OBJECTIVETo explore the genotypic and clinical features and laboratory examinations of spinal muscular atrophy type 3 (SMA III).

METHODSResults of genetic testing and laboratory exams of 18 SMA III patients were collected and analyzed.

RESULTSThe average age of onset of patients was 6.1 years, with the course of disease lasting from 13 months to 28 years. All patients became symptomatic with lower extremity muscle weakness. The symptoms gradually aggregated, with proximal lower limb muscle becoming atrophic and proximal upper limb muscle becoming weak. Genetic testing indicated that all subjects possessed homozygous deletions of SMN1 gene. Electromyography (EMG) of 15 subjects indicated neurogenic damage. Whilst younger patients had normal level of creatine kinase (CK), elder patients had higher level of CK, though no linear correlation was found.

CONCLUSIONFull understanding of Clinical, especially the growth features of SMA III, in combination with genetic testing, can facilitate diagnosis and early intervention of the disease.

Adolescent ; Adult ; Age of Onset ; Child ; Child, Preschool ; Female ; Genetic Testing ; methods ; Genotype ; Humans ; Male ; Spinal Muscular Atrophies of Childhood ; diagnosis ; genetics ; pathology ; Survival of Motor Neuron 1 Protein ; genetics

OBJECTIVESTo evaluate the efficacy of a hybrid artificial liver support system in the treatment of chronic severe hepatitis.

METHODSThe hybrid artificial liver support system (HALSS) consisted of a bioreactor containing more than 5 x 10(9) porcine hepatocytes and plasma exchange device. 15 patients with chronic severe viral hepatitis were treated with the hybrid system.

RESULTSAll the patients experienced a reduction in symptoms, such as fatigue, abdominal distention or ascites. After each treatment serum total bilirubin decreased markedly (from 493.5 micromol/L+-139.8 micromol/L to 250.9 micromol/L+-91.3 micromol/L, t=8.695, P<0.001), while prothrombin activity increased (from 24.5%+-8.4% to 30.6%+-6.3%, t=3.325, P<0.01). There were 11 patients whose progress of hepatocytes necrosis stopped after HALSS treatment, and finally they recovered completely. Four patients died of their worsen conditions. No serious adverse events were noted in the 15 patients.

CONCLUSIONHALSS is a reliable hepatic support device for chronic severe hepatitis.

Adult ; Animals ; Animals, Newborn ; Bioreactors ; Female ; Hepatitis B, Chronic ; complications ; therapy ; Humans ; Liver Failure ; therapy ; Liver, Artificial ; Male ; Middle Aged ; Plasma Exchange ; instrumentation ; methods ; Swine ; Swine, Miniature ; Treatment Outcome

OBJECTIVETo identify the relationship of body mass index (BMI) and blood pressure in 7 - 15 years children and adolescents of Beijing so as to provide scientific basis for early prevention of hypertension and to provide evidence for verification on the category criterion of overweight and obesity in children and adolescents of China, recommended by the Working Group on Obesity in China (WGOC) to sensitively distinguish the blood pressure in normal weight, overweight and obesity populations.

METHODSA cross-sectional survey on epidemiological characteristics of obesity with stratified cluster sampling method carried out in Beijing in April and May, 2000. 5155 students aged 6 - 15 years were selecte das research subjects. The category criterion of overweight and obesity in children and adolescents of China was recommended by WGOC, the diagnostic criterion of hypertension in children was recommended by CDC in the USA. Statistics analysis system (SAS 8.1) including partial person correlation analysis, t-test, chi(2) test and logistic multi-factors regression analysis was used to analyses the data from 4982 subjects aged 7 - 15 years.

RESULTS(1) after the age and gender were adjusted, the BMI positive correlation with systolic blood pressure (SBP) and diastolic blood pressure (DBP) was found independent in 7 - 15 years children and adolescents (P < 0.0001) and the partial relation coefficients(r) between BMI and SBP and DBP were 0.323 87 and 0.245 88 respectively. (2) the means of SBP and DBP in obesity group were significantly higher then overweight, while overweight was significantly higher then normal weight group (P < 0.0001). (3) the prevalence rates of hyper-SBP, hyper-DBP and hypertension were significantly different (P < 0.0001). When compared with the normal weight group, the relation risk (RR) for hypertension in overweight group and obesity group were 2.96 and 4.85 respectively. The prevalence rates of hypertension in overweight and obesity group were 19.70% and 24.22% respectively. (4) the results of logistic multi-factors regression analysis showed that both age and weight were effecting on hyper-SBP, hyper-DBP and hypertension (P < 0.0001). After age was adjusted, the RR for hypertension was 2.62, and their confidence interval (CI) was 2.36 - 2.91 in obesity or overweight, between overweight and normal weight.

CONCLUSION(1) the BMI positive correlation with SBP and DBP was found independent in 7 - 15 years children and adolescents of Beijing, and the risk for hypertension maybe increased when these people with overweight and obesity, it is very important for hypertension prevention and control that overweight and obesity prevention and control in children and adolescents. (2) the sensitivity of the category criterion of overweight and obesity in children and adolescents of China, recommended by WGOC have been verified on distinguish the blood pressure in normal weight, overweight and obesity populations.

Adolescent ; Age Factors ; Blood Pressure ; Body Mass Index ; Child ; China ; Cross-Sectional Studies ; Female ; Humans ; Hypertension ; etiology ; Logistic Models ; Male ; Risk Factors ; Sex Factors

OBJECTIVETo evaluate the clinical value of sweat function examination in early diagnosis of diabetic peripheral neuropathy (DPN).

METHODSNinety-eight hospitalized type 2 diabetic patients with or without DPN (DN and DC groups) according to Michigan Diabetic Neruopathy Score (DNS) and 40 healthy volunteers (NC group) were evaluated for their sweat function of the feet in relation to the peripheral autonomic nerve with sweat printing method using Neuropad. The Neuropad color-changing time was recorded to assess the sensitivity and specificity of sweat printing methods relative to DNS for DNP evaluation, and the correlation of the Neuropad color-changing time to DNS score was analyzed.

RESULTSThe average Neuropad color-changing time was 4.0-/+0.6, 4.3-/+1.2 and 23.0-/+6.1 min in NC, DC, and DN groups, respectively, showing significant differences between the 3 groups (P<0.05). The morbidity rate detected by sweat printing method was 62.2%, similar to that detected by DNS (57.1%, P>0.05). The sensitivity of the sweat printing method for DPN diagnosis was 92.8%, with specificity of 78.5%, positive predictive value of 93.2%, and negative predictive value of 78.6%. DNS showed significant positive correlation with the Neuropad color-changing time (r=0.46, P<0.05).

CONCLUSIONSweat printing method provides an objective, simple and reliable method for sweat function evaluation of the feet of type 2 diabetic patients to help in early DPN diagnosis, and quantification of the results of sweat printing method can be indicative of the DPN severity.

Case-Control Studies ; Color ; Diabetic Neuropathies ; diagnosis ; physiopathology ; Early Diagnosis ; Foot ; physiopathology ; Humans ; Male ; Middle Aged ; Sweating ; physiology ; Time Factors

OBJECTIVETo investigate the effects of liver X receptor (LXR) agonist on adipose-derived mesenchymal stem cells (AD-MSCs) implantation into infarcted hearts of mice.

METHODAD-MSC(Fluc+) which stably expressed firefly luciferase (Fluc) were isolated from β-actin-Fluc transgenic mice and characterized by flow cytometry. Male FVB mice were randomly allocated into the following four groups (n = 10 each): (1) sham group; (2) MI + PBS group; (3) MI + AD-MSC(Fluc+) group; (4) MI + AD-MSC(Fluc+) + LXR agonist (T0901317) group. AD-MSC(Fluc+) or PBS were injected intramyocardial into peri-infarcted region of mice heart after permanent left anterior descending (LAD) artery ligation. Bioluminescence imaging (BLI) was performed for quantification of injected cells retention and survival. Cardiac function was evaluated by echocardiography.

RESULTSThe AD-MSC(Fluc+) were positive for CD44 and CD90 by flow cytometry. BLI evidenced the firefly luciferase expression of AD-MSC(Fluc+) which was positively correlated with cell numbers (r(2) = 0.98). The results of BLI in vivo revealed that LXR agonist could improve the survival of AD-MSC(Fluc+) at day 7, 14 and 21 after transplantation compared with AD-MSC(Fluc+) alone group. Cardiac function was further improved in combination therapy group compared with AD-MSC(Fluc+) alone group (P < 0.05).

CONCLUSIONSLXR agonist T0901317 can improve the retention and survival of intramyocardial injected AD-MSC(Fluc+) post-MI, and the combination therapy of T0901317 and AD-MSC(Fluc+) has a synergetic effect on improving cardiac function in this model.

Animals ; Hydrocarbons, Fluorinated ; therapeutic use ; Liver X Receptors ; Male ; Mesenchymal Stem Cell Transplantation ; methods ; Mice ; Mice, Transgenic ; Myocardial Infarction ; mortality ; surgery ; Orphan Nuclear Receptors ; agonists ; Sulfonamides ; therapeutic use ; Treatment Outcome

Objective Little is known about the effect of RNAi on mitochondrial apoptotic pathways. This study aims to explore the effects of the Survivin shRNA-APC double-gene on colon cancer mitochondrial apoptosis pathway-related factors survivin,cytochrome C (Cytc),second mitochondria-derived activator of caspases (Smac),and cysteine aspartic acid specific protease 9 (Caspase-9) as well as on the apoptosis of colon cancer transplanted tumor (CCTT) cells. Methods Thirty nude mice were randomly divided into five groups of equal number,Survivin shRNA-APC double-gene,survivin shRNA,APC,empty vector and blank transfection. The CCTT model was established in the nude mice by subcutaneous injection of the colon cancer cell strains stably transfected with the Survivin shRNA-APC double-gene,survivin shRNA,APC,an empty vector and HT-29,respectively,into the mid-posterior part of the left armpit of the nude mice. The rate of tumor growth inhibition was calculated by measuring the volume and weight of the CCTTs in the nude mice. The mRNA and protein expressions of survivin,Cytc,Smac and Caspase-9 in the tumor tissue were detected by real time PCR and immunohistochemistry,respectively,and the apoptosis rate of the CCTT cells was detected by TUNEL. Results The model of CCTT was successfully established in the nude mice. Com-pared with the empty vector and blank transfection groups,the mice in the double-gene,survivin shRNA and APC groups showed sig-nificantly decreased average volume and weight of the tumor tissue (P<0.05) but increased inhibition rate of its volume and weight (P<0.05). In comparison with the survivin shRNA and APC groups,the double-gene group exhibited remarkably decreased average volume and weight of the tumor tissue (P<0.05) but increased inhibition rate of its volume and weight (P<0.05). The mRNA and pro-tein expressions of survivin were significantly lower while those of Cytc,Smac and Caspase-9 markedly higher in the double-gene,sur-vivin shRNA and APC groups than in the empty vector and blank transfection groups (P<0.05),the former even lower (P<0.05) and the latter even higher in the double-gene than in the survivin shRNA and APC groups (P<0.05). The apoptosis rate of the CCTT cells was significantly increased in the double-gene ([56.78±3.04]%),survivin shRNA ([33.61±2.02]%) and APC groups ([30.16± 1.72]%) as compared with the empty vector ([10.05±0.42]%) and blank transfection groups ([9.87±0.30])% (P<0.05),even higher in the double-gene group than in the survivin shRNA and APC groups (P<0.05). Conclusion The Survivin shRNA-APC double-gene may induce apoptosis of colon cancer transplanted tumor cells by down-regulating the expression of the apoptosis inhibitor survivin,upregulating the expressions of Cytc,Smac and Caspase-9,and suppressing the growth of the colon transplanted tumor,with more significant abilities than a single gene in regulating apoptosis-related factors,inducing cell apoptosis and inhibiting the growth of the transplanted tumor.