Adolescent ; Child ; Child, Preschool ; Female ; Humans ; Male ; Mucopolysaccharidosis II ; genetics ; Pedigree

Objective:To investigate the effect of free fatty acid on leptin receptor in rats.Methods:High plasma free fatty acid rat model was created by intravenous injection of free fatty acid. Western blot was used to assess the protein level of leptin-receptor in rat liver, muscle and pancreas tissues. The RNA expression level of leptin-receptor was examined by RT-PCR .The tyrosine phosphorylation of leptin-receptor was examined by immuno-precipitation. Results:The protein and RNA levels of leptin-receptor in liver,muscle and pancreas tissues of high plasma free fatty acid rats were similar to those of normal group(P>0.05).But the tyrosine phosphorylation of leptin-receptor significantly downregulated in liver and muscle tissues as compared with control group(P<0.05). Conclusions:High plasma free fatty acid may affect the tyrosine phosphorylation of leptin-receptor in rat liver and muscle.

Objective To investigate the mechanism of Chinese herb in preventing recurrence of ulcerative colitis. Methods One hundred and three UC patients were divided into treatment group and control group randomly. The treatment group was treated by Chinese herb and the control group was treated by Sulfasalazine. After treated for three months, fifty three full remission patients were followed-up. CD4+, CD8+ and CD3+ cell count were performed and influence of Chinese herb on recurrence was observed. Results Either the cell count of CD3+, CD4+ and CD8+ or the percentage of CD8+ in the peripheral blood was significantly higher in recurrence group than those in the control (P

The culture conditions of Saccharomyces cerevisiae sp.strain by 1.1 b were optimized for the production of D-(-)-mandelate dehydrogenase which is useful for the asymmetric bioreduction of benzoylformate to form D-(-)-mandelate.The optimum medium(per liter)consistes of 60 g peptone,30 g maltose, 0.5 g MgSO_4,0.01 g ZnSO_4,1.0 g KCl.After optimization of the culture medium,the enzyme production in shake flasks is enhanced from 2.56 to 20.21 U/L.The optimum fermentation conditions were determined as follows:medium volume 100 mL(i.e.,40%for a 250-mL shake flask),pH 6.5,inoculum size 10%,temperature 30℃,and cultivation time 25 h.

Objective To investigate the emotional problem of attention deficit and hyperactivity disorder(ADHD).Methods(Seventy) ADHD children and 45 controls were evaluated with the screen for child anxiety related emotional disorders(SCARED) and depression self rating scale for children(DSRSC).Results Children with ADHD showed significantly higher somatization/panic,general(anxiety),separated anxiety,scholasstic phobia and anxiety total score,depression total score(all P

There are some problems with this course of medical laboratory special English, such as reference materials, teaching contents, teaching ways, the evaluation forms, etc. The department of medical laboratory of North Sichuan Medical College did exploratory reforms including 1+n teaching mode (one major teacher and several co-operational teachers in discussion section), Flipped classroom and interactive teaching, new formative assessment forms (usual performance combing final shows grade), etc. They used innovative teaching way with the purpose of establishing new teaching way , cultivating abilities of au-tonomous learning and comprehensive application.

Objective To review the HPV infection status of the females in Shantou in the past years.Methods 3 664 speci-mens of cervical exfoliated cells of the female patients with gynecological disease from 2013 to 2014 were selected to ampli-fied HPV gene and conducted genetypes detection.The infection rate and various subtypes of HPV were analyzed.All these patients were divided into 5 groups according to their ages and the infection status of each group were also discussed.Results 805 patients were infected with HPV (22%,805/3 664).The single infection type and the mixed infection type were both visible,HPV-16 was the most common single infection type,followed by subtypes HPV-52,43,58 and 56.HPV16+52 was the most common mixed infection type,followed by HPV16+33 and HPV43+52.The infection rates of the each group were differences (χ2 =27.08,P < 0.01),No.1 (> 25),No.2 (25 ~ 34)and No.5 group (< 55)were the high-risk groups of HPV infection.Conclusion The main genotypes of these women whose infection with HPV were HPV-16,52,43,58 and 56 in Shantou region,respectively.The females aged less than 35 years old and more than 55 years old both had high-risk for HPV infection.It has important significance to developed the vaccines which can efficiently prevent HPV-16,52,43,58,56 and reduce the cervical cancer incidence.

Objective To analyze the correlation between mutation in JAK2-V617F gene in peripheral blood mononuclear cells and thrombotic events in patients with myeloproliferative.Methods Investigation of thrombosis in 391 patients with MPN,using QRT-PCR to detect JAK2-V617F gene mutation in peripheral blood of patients.Result 105 cases of thrombotic events in 391 MPN patients (26.9％),84 cases of thrombotic events in 273 JAK2-V617F gene mutation positive patients (30.8 ％),however,21 cases of thrombotic events in 118 J AK2-V617F gene mutation negative panents (17.8 ％).The difference between the two groups was statistically significant (x2 =32.30,P＜0.01).In the PV group,45 cases of thrombosis events in JAK2-V617F positive patients (29.2 ％),6 cases of thrombosis events in JAK2-V617F negativepatients (42.9％),there was significant difference between the two groups (x2 =2.13,P＞0.05).In the ET group,18 cases of thrombosis events in JAK2-V617F positive patients (32.2％),9 cases of thrombosis events in JAK2-V617F negative patients (15.8％),there was significant difference between the two groups (x2 =12.32,P＜0.01).In the PMF group,21 cases of thrombosis events in JAK2-V617F posinve patients (33.3 ％),6 cases of thrombosis events in JAK2-V617F negativepatients (12.8 ％),there was significant difference between the two groups (x2 =14.32,P＜0.01).Conclusion JAK2-V617F positive MPN patients were more susceptible to thrombotic events especially in patients with ET and PMF.

Objective To explore a new pathogenic gene mutationin in COL4A3 and COL4A4 genes of a family with thin-basement-membrane nephropathy (TBMN), and explain its mechanism.Methods Genomic DNA was extracted from blood samples.Mutation screening for all the exons in COL4A3 and COL4A4 of the proband was carried out by direct PCR sequencing.The sequences of the proband were compared with standard sequences in GenBank.After identifying the mutation in COL4A4, screening for the mutation site in 200 healthy controls and the rest of family members were conducted.RNA sequence of the proband was analyzed by reverse transcription PCR and TA cloning.The positive clones were sequenced for RNA screening.Results There was a G to A mutation in the 1459 site of COL4A4 (c.1459+G ＞ A) in the proband, her mother, and the elder sister, whereas the mutation was not found in other family members and healthy people.RNA screening showed that the COL4A4 (c.1459+G ＞ A) mutation was a heterozygous substitution in position + 1 of exon 21, in the splicing region.This mutation leaded to eliminating of exon 21 from the COL4A4 mRNA, causing the exon 21 deletion and frameshift mutation following the exon 20 in its amino acids sequence.Conclusions It is described that COL4A4 (c.1459+G ＞ A) is a new pathogenic mutation in TBMN, which further help understanding the pathogenesis and clinical diagnosis of TBMN.

Spontaneous intracerebral hemorrhage (ICH) refers to primary non-traumatic parenchymal hemorrhage.Its mortality and disability are extremely high.A simple and easy clinical grading scale for ICH can not only evaluate the prognosis of patients,but also has an important guiding significance for clinical treatment and clinical research.This article reviews the contents of major intracerebral hemorrhage scales,external validation,advantages and disadvantages,and explains its scope of application and clinical application.