OBJECTIVETo screen SNP information of keloid pedigrees through whole genome sequencing.

METHODSWe Collected information and clinical data of the keloid pedigree and constructed charts of the pedigree. The DNA was extracted from peripheral venous blood samples of the pedigree to sequence the whole genome.

RESULTS27 SNP and 8 disease-associated genes were screened out.

CONCLUSIONSWhole genome sequencing technology can select new genetic mutations associated with keloid, and provide a new way for the research of keloid.

China ; ethnology ; Genome, Human ; Humans ; Keloid ; genetics ; Mutation ; Pedigree ; Polymorphism, Single Nucleotide ; Sequence Analysis, DNA

Objective To investigate the association of single nucleotide polymorphism (SNP) rs13333226 in uromodulin (UMOD) gene with diabetic kidney diseases (DKD) in Han population in Tianjin,China.Methods A total of 210 type 2 diabetes (T2DM),90 normal controls (NC) and 280 DKD patients were recruited.According to the level of estimated glomerular filtration rate (eGFR),the DKD subjects were further subdivided into three groups:GFR≥90 ml/min group (n=105),60 ml/mim≤GFR ＜ 90 ml/min group (n=84) and GFR ＜ 60 ml/min group (n=91).Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used for UMOD rs13333226C genotyping.Results The frequencies of AA,GA,GG genotype were 27.8％,58.9％,13.3％ in NC group and 41.0％,48.6％,10.5％ in T2DM group and 54.3％,36.1％,9.6％ in DKD group.The frequency of G allele was 42.8％ in NC group,34.8％ in T2DM group and 27.7％ in DKD group.The genotype distribution of UMOD was statistically significant between NC group and DKD group,and between T2DM group and DKD group (P ＜ 0.05).G allele of UMOD was an independent protective gene polymorphism of DKD in Logistic regression (B=-0.248,Wald=8.012,P=0.021,OR=0.780,95％ CI 0.612-0.968).Conclusion The G allele of UMOD gene may be an independent protective factor of DKD in Han population in Tianjin,China.

Objective To study the clinical and genetic characteristics of keloid through investigating on four Han Chinese pedigrees.Methods The pedigree information and clinical data from Han Chinese keloid pedigrees were collected,which consisted of 22 patients in 127 family members,and then the charts of these pedigrees were constructed according to the data.Using the genetic model and pedigree analyses we summarized the clinical features of the disease in the families.Results Four Han Chinese keloid pedigrees were discovered.The three pedigree spans included 3 generations and one was 4 generations.Incidence of KD in the consanguinity family member was 23.7％ (23/93),and 20.8％ (11/53) in male KD,and 27.5％ (11/40) in female.Incidence of anterior chest KD was 40.9 ％.The inheritance pattern observed in these pedigrees was consistent with an autosomal dominant inheritance multi-gene hereditary disease with incomplete penetrance,and its nonpenetrance of KD gene carriers was 12％ (3/25).Conclusions The pattern of inheritance observed in these four Han Chinese keloid pedigrees is similar to previous reports and no gender differences are found in the incidence of disease,but differences in pathogenic site.Pedigree investigation helps to reveal the genetic characteristics of keloid.

Objective To generate an human interleukin-17 receptor-like molecule (IL-17RLM) recombinant plasmid with 6?myc tag and detect its specific expression in eukaryotic cells. Methods Design two specific primers(including the enzyme sites of EcoRⅠand XhoⅠ), reextract hIL-17RLM-L DNA fragment after PCR and insert it into the 6?myc tagged pcDNA3.0 vector, then detect its expression by Western blot after transfecting COS7 cells. Results The 6?myc tagged recombinant plasmid pcDNA3.0- 6?myc /hIL-17RLM-L was generated successfully and its expression can be detected by Western blot in eukaryotic cells. Conclusion The eukaryotic expressing plasmid pcDNA3.0-6?myc /hIL-17RLM-L was generated successfully and its specific expression was realized, which may provide the basis for further research of its biological function.

We got vary data about neuron-threshold from animal experiment. We try to find the disciplinarian from the data in order to confirm something. In this article we first confirmed unitary method of neuron-threshold; and then found t he complication working on the neuron-threshold parameter and the connection bet ween one another; at last proved the non-linear characteristic about neuron. The se conclusions do well to the clinic application of nerve electro-physiology; ne rve biology and neuron-threshold. Along with the experiment data enriched and co nsummated more and more, using analysis method for experiment, neuron-threshold will be up to par of clinic diagnosis and treatment.

This paper mainly introduces the design for system of evoked potentials detecting based on technology of mobile computing platform and CF interface. The CF+ card in IO mode based on the mobile computing equipments and its CF interface are designed, and the driver and application software on Windows CE platform are also written at the same time. The system with these hardware and software can perform the task of generating evoked signals and sampling evoked potentials signals. Simple hardware design and perfect software support are available in this system, which can meet the research needs in many fields of evoked potentials signals.

According to the analysis of 9 237 hospitalized type 2 diabetic patients, the prevalence of diabetic retinopathy ( DR )was 32.9％ , with the prevalence of mild, moderate, and serious non-proliferative DR and proliferative DR being 10. 1％, 18. 3％, 3.2％, and 1.3％ respectively. The prevalence of diabetic macular edema ( DME ) was 3.56％ in type 2 diabetics and i 0. 8％ in patients with DR. Diabetes duration and proteinuria were the common risk factors of DR and DME.

Objective To investigate the clinical characteristics of diabetic retinopathy(DR)and diabetic nephropathy(DN)and their correlation. Methods All of 9237 hospitalized type 2 diabetes patients from January 2004 to June 2009 were collected. The prevalence and clinical of characteristics of DR and DN as well as their relationship were analyzed. Results The total prevalence of DR was 33.0%(3045/9237),and the prevalence of DR in the microalbuminuria, macroproteinuria and macroalbuminuria combined with renal dysfunction patients were 36.3%(588/1618),53.7%(1113/2074)and 70.7%(1206/1706)respectively.The prevalence of DN was 58.4%(5398/9237). Compared with that in the diabetes patients without DR, the levels of microalbumin and total protein in the urine were higher in the patients with moderate non-proliferative diabetic retinopathy(NPDR), serious NPDR and proliferative diabetic retinopathy(PDR), but the endogenous creatinine clearance rate was lower(P＜ 0.05). According to the non-conditional Logistic regression model,the risk factors of DR included diabetes duration,urinary protein,fibrinogen, C-reactive protein and peripheral neuropathy, and the risk factors of DN included diabetes duration, HbA1c, systolic blood pressure,urinary protein,low density lipoprotein and DR. Conclusions DR and DN are the chronic microvascular complications in the type 2 diabetes and have higher prevalence. There are good correlations between DR and DN.

OBJECTIVETo investigate the effects of botulinum toxin type A (BTXA) on the expression of alpha smooth muscle actin(alpha-SMA) and myosin-II of fibroblasts in scars. Methods Fibroblasts were isolated from tissue specimens of scars contracture. Cells from passages 3-5 were randomly divided into 3 groups (control group, low BTXA group (1 U/10(6) Cells), and high BTXA group (2.5 U/ 10(6)Cells)). Growth condition of fibroblasts was observed at 1 , 4, 7 day after BTXA treated. Changes of alpha-SMA and myosin-II in fibroblasts were detected by Western blot.

RESULTSFibroblasts grew well in control group. The proliferation was decreased 4 days later in BTXA groups. Lots of apoptotic cells were seen in high BTXA group at 7th day. Proteins of alpha-SMA and myosin-II in fibroblasts were statistically different between BTXA group and control groups at 4th day (P < 0.05). The expression of alpha-SMA and myosin-II in low BTXA group was higher than that in high BTXA group at 7th day (P < 0.05).

CONCLUSIONSBTXA could induce the apoptosis of fibroblasts and decrease the expression of alpha-SMA and myosin-II in fibroblasts. The inhibitory effect was strengthened with BTXA concentration increase within a certain range.

Actins ; metabolism ; Botulinum Toxins, Type A ; pharmacology ; Cicatrix ; Fibroblasts ; drug effects ; metabolism ; Humans ; Muscle, Smooth ; metabolism ; Myosin Type II ; metabolism ; Random Allocation

[Summary] To investigate the association between sleep disorder and ambulatory blood pressure rhythm in patients with type 2 diabetes. 418 patients with type 2 diabetes were divided into two groups according to Pittsburgh sleep quality index ( PSQI):patients without sleep disorder and patients with sleep disorder. Oral glucose tolerance test, insulin releasing test, and C-peptide releasing test were performed to investigate the differences in the β-cell function, the circadian rhythm of blood pressure, and blood pressure variation between the two groups after fasting and glucose-load. The correlation and regression analysis were performed between PSQI and other indicators. (1)The level of HbA1C , fasting plasma insulin, area under curve of insulin, fasting plasma C-peptide, area under curve of C-peptide, and homeostasis model assessment for insulin resistance ( HOMA-IR) were significantly higher in patients withsleepdisordercomparedtothoseinpatientswithoutsleepdisorder[(8.2±2.1)% vs(7.4±1.8)%,(13.42± 4.55vs11.86±4.52)mU/L,(8.51±0.54vs8.38±0.51)mU·L-1·min,(2.42±1.25vs1.79±0.73)ng/ml, (6.59±0.39vs6.49±0.43)μg·L-1·min,4.63±1.12vs3.86±0.97,allP<0.05]. Insulinsensitivityindex (ISI) was lower in patients with sleep disorder than that in patients without sleep disorder(-4. 26 ± 0. 78 vs-4. 05 ± 0.62,P<0.05). (2)Thelevelof24hmeansystolicanddiastolicbloodpressure,nocturalsystolicanddiastolicblood pressure, and systolic blood pressure during daytime and nighttime were significantly higher in patients with type 2 diabetes who were suffering from sleep disorder. The blood pressure variation was more marked in patients with sleep disorder. (3)Multiple stepwise regression analysis showed that PSQI score was positively related to area under curve of C-peptide, HOMA-IR, 24 h mean systolic blood pressure, and noctural systolic blood pressure (β=0. 242, 0. 293, 0. 352, 0. 413, all P<0. 05), and negatively related to ISI and decreasing ratio of noctural systolic blood pressure (β=-0. 124 and -0. 226, both P<0. 05). Sleep disorder may cause abnormal circadian rhythm of blood pressure through various mechanisms. Improving sleep disorder may help to ameliorate insulin resistance and restore normal circadian rhythm of blood pressure.