Child ; Child, Preschool ; Humans ; Macrophage Activation Syndrome ; etiology ; pathology ; Male ; Mucocutaneous Lymph Node Syndrome ; complications ; pathology

Child ; Child, Preschool ; Complement C3 ; Disease Progression ; Female ; Humans ; Intercellular Signaling Peptides and Proteins ; blood ; Lipid Metabolism ; Male ; Obesity ; blood

Objective: To determine the noninvasive imaging efficacy of 99mTc-sandostatin scintigraphy for lung cancer. Methods: 57 consecutive patients with pulmonary nodules(PN) were studied with 99mTc-sandostatin scintigraphy.Planar imaging was obtained after injection of (991.6?187.59) MBq of 99mTc-sandostatin at 1.5-4 hour with GE Dual-head gamma camera(Millennium VG, Hawkeye ;General Electric Medical Systems) . SPECT images of the chest were performed at 4-6 h post injection. All scintigraphically detected lesions were confirmed by histopathological analysis and/or by other imaging modalities.Tumor to normal tissues ratios (T/N) were calculated . Results: Out of 57 patients ,47 were malignant tumors; 12 with small cell lung cancer (SCLC), 35 with non- small cell lung cancer (NSCLC). 10 had benign lesions. The sensitivity , specificity and accuracy of 99mTc-Sandostatin in detection of lung cancer were 95.7%, 90%, 94.7%, respectively. In two patients (pts) with pulmonary squamous cell cancer 99mTc-Sandostatin imaging was false negative. In 10 pts. with benign PN, 9 pts. was true negative, but one patient with tubercolama was false positive. T/N ratio was 3.43?0.66, 2.24?0.31 in SCLC and NSCLC respectively. The T/N ratio was higher in small cell lung cancer than NSCLC(t = 4.072 ,P

Female ; Fungemia ; etiology ; therapy ; Humans ; Infant, Newborn ; Infant, Premature ; Male ; Retrospective Studies

BACKGROUND: Sepsis is a common complication of infections, burns, traumas, surgeries, poisonings, and post-cardiopulmonary resuscitation. The present study aimed to investigate prognostic value of CD4+CD25+ regulatory T cells (Treg) in peripheral blood of patients with sepsis. METHODS: Periphery blood from 28 patients diagnosed with sepsis was collected on day 1 and 7 after hospitalization in the ICU of Shanghai Changzheng Hospital between December 2013 to April 2014. The blood was used for analyses of Treg ratio using flow cytometry and for analyses of blood routine test, C-reactive protein (CRP), bilirubin, procalcitonin (PCT), and coagulation. APACHE II and sequential organ failure assessment (SOFA) scores were also investigated. The results were compared between two outcome groups of survival or death to evaluate prognostic value for sepsis. RESULTS: The patients had an average age of 60.36±15.03 years, APACHE II score 16.68±7.00, and SOFA score 7.18±3.78. Among the 28 patients, 12 had severe trauma (42.9％), 10 had septic shock (35.7％), and 9 (32.2％) died. The median ratio of Tregs was 2.10％ (0.80％, 3.10％) in the survival group vs. 1.80％ (1.15％, 3.65％) in the death group (Z=–0.148, P=0.883) on day 1; however it was significantly changed to 0.90％ (0.30％, 2.80％) vs. 5.70％ (2.60％, 8.30％) (Z=–2.905, P=0.004). CONCLUSION: With better prospects for clinical application, dynamic monitoring of Tregs ratio in peripheral blood has potential value in predicting prognosis of sepsis.

3T3-LI preadipocytes were induced to differentiate and 3T3-L1 adipocyte or preadipocytes were incubated with oleate or palmitate overnight.RT-PCR was used to measure adiponectin receptor(AdipoR)1 and AdipoR2 mRNA levels.The results showed that the AdipoRl and AdipoR2 expressions were differentiation- dependent.Oleate only suppressed AdipoR mRNA expression in preadipocyte but not in adipocyte.However,high concentration of palmitate reduced AdipoR mRNA expression in both 3T3-LI preadipocyte and adipocyte.

OBJECTIVEPrader-Willi syndrome (PWS) is an example of a human genetic disorder that involves imprinting genes on the proximal long arm of chromosome 15 and SNRPN gene as a candidate gene for this syndrome. The purpose of this study was to show the molecular genetic defects and genomic imprinting basis in Chinese PWS patients and to evaluate the clinical applications of a differential diagnostic test for PWS.

METHODSFluorescence in situ hybridization (FISH) and methylation-specific PCR (MSPCR) techniques were applied for 4 clinically suspected PWS patients. Using three probes, including SNRPN probe for identification of the critical locus in PWS region, D15Z1 and PML control probes for identification of the 15p arm and 15q arm, the authors detected the deletions 15q in PWS. MSPCR was based on sodium bisulfite treatment of DNA and PCR primers specific for the maternal and paternal allele.

RESULTSWhen hybridized with mixed probes, it was found in 2 patients that the central specific signal was absent, but both the flanking control signals were retained, indicating SNRPN gene deletion of chromosome 15q11-13. Bisulfite-modified DNA from all PWS children amplified with methylated allele-specific primer pair showed only maternal 131bp PCR product, indicating the maternal uniparental disomy (UPD15).

CONCLUSIONGenomic imprinting plays an important role in the molecular pathogenesis of PWS that caused by paternal microdeletions of 15q11-q13 or maternal UPD of chromosome 15. The basic defect seemed to be an absence of function of PWS genes that are normally expressed only from the paternal chromosome 15. MSPCR is a rapid and simple PCR-based assay compared with other cyto-molecular tests and its results were consistent with the clinical diagnosis of PWS, so it seems to be a reliable diagnostic method for PWS patients who show abnormal methylation at SNRPN. The genetic differential tests for PWS are important in determining familial recurrence risk.

Adolescent ; Autoantigens ; Chromosome Deletion ; Chromosomes, Human, Pair 15 ; genetics ; Gene Deletion ; Genomic Imprinting ; genetics ; Humans ; In Situ Hybridization, Fluorescence ; Male ; Polymerase Chain Reaction ; methods ; Prader-Willi Syndrome ; genetics ; Ribonucleoproteins, Small Nuclear ; genetics ; snRNP Core Proteins

Objective:To produce rhBMP-4 with bioactivity in E.coli. Methods: The full-length human BMP-4 gene was mutated by PCR without changes in amino acid sequence, then the synthesized gene was cloned into plasmid pET-3c, transducted into BL21(DE)plysS, and induced by adding IPTG to a final concentration of 1.0 mmol/L. The protein product was purified using ion-exchange chromatography method and then renaturated, bioactivity was checked by C2C12 differentiation in vitro and mouse ectopic bone formation in vivo. Results: A 438 bp gene fragment encoding mature peptide of hBMP-4 was cloned , the protein product was mostly in the form of inclusion body, after renaturation, the engineering protein shows better bioactivity. Conclusion:The mutant strategy can enhance the expression of bioactive rhBMP-4 in E.coli expression system.

OBJECTIVETo investigate the frequency and type of PHEX gene mutations in children with X-linked hypophosphatemic rickets (XLH), the possible presence of mutational hot spots, and the relationship between genotype and clinical phenotype.

METHODSClinical data of 10 children with XLH was retrospectively reviewed. The relationship between gene mutation type and severity of XLH was evaluated.

RESULTSPHEX gene mutations were detected in all 10 children with XLH, including 6 cases of missense mutation, 2 cases of splice site mutation, 1 case of frameshift mutation, and 1 case of nonsense mutation. Two new mutations, c.2048T>C and IVS14+1delAG, were found. The type of PHEX gene mutation was not associated with the degree of short stature and leg deformity (P=0.571 and 0.467), and the mutation site was also not associated with the degree of short stature and leg deformity (P=0.400 and 1.000).

CONCLUSIONSMissense mutation is the most common type of PHEX gene mutation in children with XLH, and c.2048T>C and IVS14+1delAG are two new PHEX gene mutations. The type and site of PHEX gene mutation are not associated with the severity of XLH.

Adolescent ; Child ; Child, Preschool ; Familial Hypophosphatemic Rickets ; genetics ; Female ; Humans ; Infant ; Male ; Mutation ; PHEX Phosphate Regulating Neutral Endopeptidase ; genetics ; Retrospective Studies

BACKGROUNDAs the incidence of type 2 diabetes is rapidly increasing, prevention of the disease should be considered as a crucial objective in the near future. Several studies have shown angiotensin receptor blockers (ARBs) may contribute to the prevention of new-onset type 2 diabetes. This study was conducted to determine if ARBs as monotherapy or combination therapy may experience a decreased incidence of new-onset type 2 diabetes and prevent cardiovascular events.

METHODSRelevant experimental and clinical studies were identified by searching MEDLINE (1969 to May 30, 2011) to extract a consensus of trial data involving the effect of ARBs on prevention of new-onset type 2 diabetes and cardiovascular events. Studies were included if they were randomized controlled trials versus placebo/routine therapy. A random-effects model was utilized. Subgroup and sensitivity analyses were conducted.

RESULTSEleven trials were identified, including 82 738 patients. ARBs prevented new-onset type 2 diabetes (odds ratio 0.8 (95%CI 0.76, 0.85)). Regardless of indication for use, essential hypertension (seven trials), impaired glucose tolerance (one trial), cardiocerebrovascular disease (two trials) or heart failure (one trial), reductions in new-onset type 2 diabetes were maintained (0.75 (0.69, 0.82), 0.85 (0.78, 0.92), 0.80 (0.76, 0.85) and 0.80 (0.64, 0.99), respectively). No statistical heterogeneity was observed for any evaluation. However, ARBs did not significantly reduce the odds of all-cause mortality, myocardial infarction and heart failure versus control therapy among all of these studies. But ARBs did reduce the odds of cardiac death and heart failure among the heart failure study versus control therapy.

CONCLUSIONARBs have significant ability to reduce risk of developing new-onset type 2 diabetes but does not improve cardiovascular outcomes over the study follow-up periods among all of included studies.

Angiotensin Receptor Antagonists ; therapeutic use ; Cardiovascular Diseases ; prevention & control ; Diabetes Mellitus ; prevention & control ; Diabetes Mellitus, Type 2 ; prevention & control ; Humans ; Hypertension ; prevention & control ; Randomized Controlled Trials as Topic