Animals ; Biopterin ; analogs & derivatives ; therapeutic use ; Genetic Therapy ; Humans ; Phenylalanine Ammonia-Lyase ; administration & dosage ; Phenylketonurias ; therapy

The clinical data of 2 infants with infantile glycogen storage disease type II (GSD II) from one pedigree were collected. The method of dried blood spots (DBS) was applied to collect peripheral blood samples, and the activity of acid alpha-D-glucosidase (GAA) in leukocytes was measured. The coding region of GAA gene in this pedigree was amplified by polymerase chain reaction and then direct sequencing was used to analyze mutations in GAA gene. The two infants were twins, who were admitted to the hospital due to feeding difficulties, generalized muscle weakness and hypotonia, cardiomegaly, and cardiac insufficiency when they were 10 months old. The GAA activity in leukocytes in the two infants was significantly lower than in normal controls. Gene sequencing revealed 2 compound heterozygous mutations in the two infants, i.e., G1942A and G2214A, respectively. G1942A had been proved pathogenic, and the latter one, G2214A, was a nonsense mutation, resulting in the change of tryptophan, the 738th amino acid of GAA, into a stop codon. The two infants were diagnosed with GSD II by gene detection and no enzyme replacement therapy could be provided to them. Follow-up visits showed that the two infants died at home at the age of 15 months and 17 months, respectively. GSD II is caused by deficiency of GAA activity resulting from mutation of GAA gene. The detection of GAA activity in peripheral blood by DBS and GAA gene detection are effective and feasible methods for diagnosis of GSD II.
Female ; Glycogen Storage Disease Type II ; genetics ; Humans ; Infant ; Mutation ; Pedigree ; alpha-Glucosidases ; genetics

Objective To investigate the long-term follow-up results of patients treated with radical nephrectomy for small renal carcinoma.Methods Between January 1992 and June 2004,a total of 56 pa- tients(41 men and 15 women;mean age,54 years;age range,19-71 years)underwent radical nephrectomy for small renal carcinoma.The clinical data and long-term follow-up results of the 56 cases were analyzed ret- rospectively.All the patients were followed by questionnaire;and the 5-and 10-year survival rates were calcu- lated by Kaplan-Meier method.Results None of the patients was found to have metastasis preoperatively. Postoperative pathology showed renal clear cell carcinoma in 44 cases,granular cell carcinoma in 7,and mixed cell carcinoma in 5.Among these cases,ipsilateral adrenal metastasis was found in 1 case,local lymph- aden metastasis in 2,and perirenal fat metastasis in 4.Postoperatively,49 of the 56 patients(87.5%)were followed for 11-155 months with a mean of 71 months.The 5-and 10-year survival rates were 81.7% and 66.9%,respectively.Five patients died of metastasis from renal carcinoma.Conclusions Radical ne- phrectomy for small renal carcinoma has favorable long-term effects,therefore it is an optimal surgical proce- dure for small renal carcinoma.

OBJECTIVETo study the distribution of ScrF1 restriction polymorphism in intron 2 of the 3-hydroxy-3-methylglutaryl coenzyme A(HMG-CoA) reductase gene in Chinese Han population and the association of the polymorphism with coronary heart disease(CHD).

METHODSHMG-CoA reductase genotyping was performed using polymerase chain reaction-restriction fragment polymorphism.

RESULTSHMG-CoA reductase allelic frequencies of A, a were 0.519, 0.481; 0.440, 0.560 in CHD group and control group respectively. There was no significant difference in frequencies of allele and genotype in ScrF1 polymorphism between CHD group and control group(P>0.05). However, the levels of plasma very low density lipoprotein (VLDL) and TG in CHD patients with AA genotype were higher than those in CHD patients with other genotypes(P<0.05). The frequencies of A, a alleles at ScrF1 polymorphic site were significantly different from those reported in European Caucasians (0.44 vs 0.55, 0.56 vs 0.45, P<0.05).

CONCLUSIONNo direct association was found between the ScrF1 polymorphism and CHD, but there is a significant correlation between the AA genotype of the HMG-CoA reductase gene and the levels of plasma VLDL and TG in CHD group.

Adult ; Aged ; Aged, 80 and over ; Asian Continental Ancestry Group ; genetics ; Blood Chemical Analysis ; Cholesterol, VLDL ; blood ; Female ; Genetic Predisposition to Disease ; Humans ; Hydroxymethylglutaryl CoA Reductases ; genetics ; Hydroxymethylglutaryl-CoA-Reductases, NADP-dependent ; genetics ; Lipid Metabolism ; genetics ; Male ; Middle Aged ; Polymorphism, Genetic ; Triglycerides ; blood

This study was aimed to investigate the effect of human umbilical vein endothelial cells (HUVEC) on dendritic cell (DC) development. First, HUVEC were isolated from human umbilical cord by collagenase digestion, and then the morphology, immunophenotypes and functions were identified. Furthermore, the HUVEC were cocultured with CD14(+) monocytes under the cytokine condition for detecting the influence of HUVEC on differentiation of CD14(+) cells to DC. The phenotype of dendritic cells derived from CD14(+) cells was analyzed by flow cytometry, the immunoregulatory function of DC was tested by mixed lymphocyte reaction (MLR). The change of IL-6 and VEGF as well as EPK and p38 signal pathway were analyzed by neutral antibody experiment and Western blot. The results showed that HUVEC isolated from human umbilical cord were characterized by spindle-shaped morphology, homogenous immunophenotypes (vWF(+)CD31(+)CD73(+)CD45(-)HLA-DR(-)CD86(-)CD34(low)), Dil-Ac-LDL incorporation ability and forming capillary-like structures. Following stimulation with granulocyte-macrophage colony-stimulating factor (GM-CSF) plus interleukin-4 (IL-4), HUVEC cocultures could inhibit the initial differentiation of CD14(+) monocyte to DC. Interestingly, IL-6 and VEGF enhanced the suppression effect of HUVEC on generation of DC via activation of the ERK or p38 mitogen activated protein kinase pathway. It is concluded that HUVEC are involved in DC development and can suppress the differentiation of monocyte to DC.
Cell Differentiation ; Coculture Techniques ; Dendritic Cells ; cytology ; Human Umbilical Vein Endothelial Cells ; cytology ; Humans ; Monocytes ; cytology

This study was aimed to investigate the effect of activated T cell on the ability of MSC to differentiate into osteoblasts. The activated T cells with MSCs were co-culture for 14 days, then the osteoblast formation was tested by alkaline phosphatase staining. Furthermore, the supernatant of activated T cell was added in culture system of MSCs, the expression of molecules related with immune regulation of activated T cells was detected by RT-PCR, so as to determine what kinds of cytokine displayed the important function in MSC differentiation. The result showed that activated T cell could promote differentiation of MSC into osteoblasts, and IL-1beta played an important role in the effect of activated T cells on MSCs, while TNF-alpha, TGF-beta1 were not. It is concluded that the activated T cells promote the differentiation of MSCs to osteoblasts. The interactive influence between MSCs and immune cells can be mediated through cytokines.
Cell Differentiation ; Cells, Cultured ; Coculture Techniques ; Culture Media, Conditioned ; Humans ; Interleukin-1beta ; biosynthesis ; Mesenchymal Stromal Cells ; cytology ; Osteoblasts ; cytology ; T-Lymphocytes ; metabolism

To establish a fluorescent quantitative PCR method (FQ-PCR) with TaqMan probe for simultaneous detection of polyomavirus (BKV) and cytomegalovirus (CMV) and to evaluate its clinical application in the renal transplantation recipients. The conservative sequences of BKV and CMV were targeted and amplified by nested PCR technique. The PCR products were cloned into the plasmids pcDNA3. 1(+). The recombinant plasmid containing target sequences of BKV and CMV were constructed as external standards. The TaqMan-based assay was optimized. For evaluating the assay, the sensitivity was determinated by diluted standard (5 X 103-10icopies/mL), and the specificity was verified by negative control and positive control, and the precision was assessed by intra-assay coefficient of variation (ICV) through detecting standard repeatedly (20 times). A total of 480 blood samples of renal transplantation recipients were used to detect BKV and CMV DNA simultaneously with FQ-PCR, and the concentrations of FK506 were measured by ELISA. The association of DNA copy and concentrations of FK506 was analyzed. The cloned target BKV and CMV DNA was confirmed by sequencing and analysis. The sensitivity of the FQ-PCR assay reached 5 X 103 copies/ml in detecting BKV or CMV DNA. Control DNA verified the assay specifically detecting target DNA. The precision of the assay to quantif target DNA copies was acceptable (Intra-assay CV was 3.44% for BKV and 2.23% for CMV; Inter-assay CV was 4. 98% for BKV and 3.76% for CMV;). Of 480 samples, 130 samples (27. 08%) were CMV DNA positive, significantly higher than the BKV DNA positive (13.33%, 64/480, P<0.05). The positive BKV or CMV DNA was found to be associated with high concentrations of FK506 (P<0. 05). In conclusion, the developed real-time PCR assay for detecting both CMV and BKV DNA simultaneously was s high sensitive, precise and time-effectiveand could be applied in the monitoring of the CMV and BKV infection in the renal transplantation recipients.
Adolescent ; Adult ; Aged ; Conserved Sequence ; Cytomegalovirus ; genetics ; isolation & purification ; Cytomegalovirus Infections ; diagnosis ; virology ; DNA, Viral ; blood ; Female ; Humans ; Immunosuppressive Agents ; blood ; Kidney Transplantation ; adverse effects ; Male ; Middle Aged ; Polyomavirus ; genetics ; isolation & purification ; Polyomavirus Infections ; diagnosis ; virology ; Real-Time Polymerase Chain Reaction ; methods ; Reproducibility of Results ; Sensitivity and Specificity ; Species Specificity ; Tacrolimus ; blood ; Time Factors ; Tumor Virus Infections ; diagnosis ; virology ; Viral Load ; Young Adult

Liver cancer is a common malignant tumor in China and a major health concern. We aimed to estimate the liver cancer incidence and mortality in China in 2010 using liver cancer data from some Chinese cancer registries and provide reference for liver cancer prevention and treatment. We collected and evaluated the incidence and mortality data of liver cancer in 2010 from 145 cancer registries, which were included in the 2013 Chinese Cancer Registry Annual Report, calculated crude, standardized, and truncated incidences and mortalities, and estimated new liver cancer cases and deaths from liver cancer throughout China and in different regions in 2010 from Chinese practical population. The estimates of new liver cancer cases and deaths were 358,840 and 312,432, respectively, in China in 2010. The crude incidence, age-standardized rate by Chinese standard population (ASR China), and age-standardized rate by world standard population (ASR world) were 27.29/100,000, 21.35/100,000, and 20.87/100,000, respectively; the crude, ASR China, and ASR world mortalities were 23.76/100,000, 18.43/100,000, and 18.04/100,000, respectively. The incidence and mortality were the highest in western regions, higher in rural areas than in urban areas, and higher in males than in females. The age-specific incidence and mortality of liver cancer showed a rapid increase from age 30 and peaked at age 80-84 or 85+. Our results indicated that the 2010 incidence and mortality of liver cancer in China, especially in undeveloped rural areas and western regions, were among high levels worldwide. The strategy for liver cancer prevention and treatment should be strengthened.
China ; epidemiology ; Female ; Humans ; Incidence ; Liver Neoplasms ; epidemiology ; mortality ; Male ; Registries ; Rural Population ; Sex Distribution ; Urban Population

Nasopharyngeal carcinoma (NPC) is common in South China. Although regional epidemiological data on NPC in China is available, national epidemiological data have been unavailable up to now. The goal of this study was to analyze the NPC incidence and mortality data in some domestic cancer registries, estimate these rates in China in 2010, and provide scientific information that can be harnessed for NPC control and prevention. To accomplish this goal, NPC incidence and mortality data for 2010 were collected from 145 Chinese cancer registries from which data were included in the 2013 National Cancer Registry Annual Report. Such indices as its incident and death numbers, crude rates, age-standardized rates and truncated rates were calculated and analyzed. The incidence and mortality in China and constituent areas were estimated according to the national population in 2010. An estimated 41,503 new cases and 20,058 deaths were attributed to NPC in China in 2010, accounting for 1.34% of all new cancer cases and 1.03% of all cancer-related deaths that year in China. Crude incidence and mortality were 3.16/100,000 and 1.53/100,000, respectively. World age-standardized incidence and mortality were 2.44/100,000 and 1.18/100,000, respectively. Incidence and mortality were higher among males than among females and slightly higher in urban areas than in rural areas. Among seven Chinese administrative regions, NPC incidence and mortality were obviously higher in South China than in other regions and lowest in North China. The male and female age-specific incidence and mortality both rose quickly from age 25-29 years, but peaked at different ages and varied by location. These results demonstrated that NPC incidence and mortality in China especially in South China were at high levels in the world, and suggested that control and prevention efforts should be enhanced.
Carcinoma ; China ; epidemiology ; Female ; Humans ; Incidence ; Male ; Nasopharyngeal Neoplasms ; epidemiology ; mortality ; Registries ; Rural Population ; Urban Population

Objective To offer basic data related to the prevention of child sexual abuse,we conducted a Meta-analysis on the national incidence rate on child sexual abuse in the country.Methods Publications between 2000 and 2013 were extracted from PubMed,Springer Link,Elsevier-SDOL,Chinese Biomedical Database (CBM),China National Knowledge Infrastructure (CNKI),Chinese Science & Technology journal database (VIP),Wanfang Databases,China master's Theses Full-text Database and China Conference Papers Full-text Database.Observational studies which containing the incidence rate of child sexual abuse were included.We used the Loney criteria to evaluate the quality of searched publications.The Meta incidence rate was estimated using the Stata software.Subgroup analysis were undertaken on gender issues.Sensitivity analysis were performed to evaluate the impact of types or qualities to the research objects.Results Fifteen papers were included in this Meta-analysis,with a sample size of 16 682.The combined incidence rate of child sexual abuse was 18.20％ (95％CI:13.74％-22.66％).For injured persons,girls had a higher incidence rate on child sexual abuse (11.22％) than boys (8.25％) in terms of contact sexual abuse,but no significant difference on gender was found in the prevalence rates of global and un-contact sexual abuse.Data from sensitivity analysis revealed that the quality or types of the objects slightly affected the incidence rate of traffic injuries.Conclusion Results of this study indicated that child sexual abuse was common and serious in China,suggesting that prevention and control programs on childhood abuse should be emphasized and promoted.