Objective To analyze mutations in the GJB2 gene in a Chinese patient with keratitis-ichthyosis-deafness (KID)syndrome complicated by cutaneous squamous cell carcinoma. Methods Clinical data were collected from a patient with KID syndrome complicated by cutaneous squamous cell carcinoma. Peripheral blood samples were obtained from the patient and her parents, and DNA was extracted from these blood samples. PCR was performed to amplify the exon 2 of the GJB2 gene followed by direct DNA sequencing. Results A mutation (c.148G > A)was identified at position 148 in exon 2 of the GJB2 gene, which caused a codon change from GAC to AAC and resulted in the substitution of aspartate by asparagine at position 50 in the connexin26 (Cx26)protein (p.Asp50Asn). Inaddition,anothermutation(c. 79G > A), which led to the substitution of valine by isoleucine at codon 27 in Cx26 (p.Val27Ile), was found at position 79 in exon 2 of the GJB2 gene. Neither of the two mutations was detected in the patient′s parents. Literature review revealed that 13 cases of KID syndrome complicated by cutaneous squamous cell carcinoma had been reported in abroad, and the mutation c.148G > A was detected in the GJB2 gene in all the 7 cases finally diagnosed by gene sequencing. Conclusion GJB2 gene mutations may be responsible for the clinical phenotype of KID syndrome in this Chinese patient, and the mutation c.148G > A may be related to the development of cutaneous squamous cell carcinoma.

?AIM:To investigate and analyze diabetic retinopathy ( DR) in patients with type 2 diabetes in local community and risk factors of type 2 diabetic retinopathy, and to provide reference for the prevention and treatment of diabetic.?METHODS:Randomly 268 cases with type 2 diabetes from community health management files from January to March 2015 were selected. Fundus photography was read through the remote reading system, demographic data and laboratory indexes of DR were analyzed.?RESULTS:In the 268 cases with type 2 diabetes, 85 cases were diagnosed as DR ( 31. 7%); there were statistical difference on gender, duration, systolic blood pressure, fasting glucose, glycosylated hemoglobin A1c, urine creatinine between patients with DR and without ( P<0. 05 ). Multivariable Logistic regression analysis showed, duration, systolic blood pressure, fasting glucose, glycosylated hemoglobin A1c were independent risk factors of DR(P<0. 05).?CONCLUSION:Long duration, high blood pressure, high blood glucose are main risk factors of DR, we should strengthen the monitoring of blood pressure, blood glucose and prevent the happening of the DR.

ObjectiveTo observe the effects of human IL-10 gene transfection on the mRNA and protein expressions of IL-1β and TNF-α in the penumbra area following focal cerebral ischemia-reperfusion injury in rats and to investigate its neuroprotective mechanism. MethodsRats were divided into four groups: normal control group, ischemic control group, empty plasmid group and human IL-10 gene transfected group. The mRNA and protein expressions of IL-1β and TNF-α in the penumbra area were detected by fluorescence real-time quantitative PCR and ELISA respectively. ResultsIn normal control group, ischemic control group, empty plasmid group and human IL-10 gene transfected group, the levels of protein expression of TNF-α in penumbra area were(0.66±0. 04) ,(1.16±0.26),(1. 155±0. 26)ng/g and(0. 84±0. 05)ng/g, and the levels of protein expression of IL-1βin penumbra area were(0.37±0.05), (1.25±0.39), (1.21±0.57) ng/g and(0.62+0.05)ng/g, respectively. Compared with normal control group, the levels of protein expression of TNF-α and 1L-1β were significantly higher in other three groups(all P＜0. 01), and lower in human IL-10 gene transfected group than in ischemic control group and empty plasmid group(all P＜0. 01). In normal control group, ischemic control group, empty plasmid group and human IL-10 gene transfectedgroup, the levels of mRNA expression of TNF-α in penumbra area were 1.00 ±0.53,9.42±1.83,9.69±1.96 and 3.53±1.09, and the levels of mRNA expression of IL-1β in penumbra area were 1.00 ±0.51,27. 81±4.84,23.96 ± 4.90 and 13.55± 4.45, respectively. Compared with normal control group, the levels of mRNA expression of TNF-α and IL-1β were significantly higher in other three groups(all P＜0. 01), and lower in human IL-10 gene transfected group than in ischemic control group and empty plasmid group(all P＜0. 01). ConclusionsThe human IL-10 gene transfection may play an protective effect on cerebral ischemia through inhibiting mRNA and protein expression of IL-1β and TNF-α in the penumbra area following focal cerebral ischemia-reperfusion in rats.

OBJECTIVETo study the in-vitro inducing apoptosis mechanism of human hepatoma SMMC-7721 cells by 2',4'-di- hydroxy-6'-methoxy-3',5'-dimethylchalcone (DMC), a chalcone compound from Cleistocalyx operculatus.

METHODQuantitative DNA fragmentation assay was carried out to detect the effect of DMC of different concentrations on SMMC-7721 cells, according to the method of Sellins and Cohen with some modifications. Telomerase activities of the cells were determined by PCR-ELISA methods. The expression quantity of c-myc and hTERT mRNA were determined by semi-quantitative RT-PCR The effect of DMC on expression levels of cmyc and hTERT protein were measured by western blot.

RESULTThe percentage of DNA fragmentation increased with notable concen- tration dependence, after treatment with DMC for 48 h. Compared with that of control group, the telomerase activity of the cells de- creased by (66.2 ± 2.1)% after 48 h treatment with 20 μmol x L(-1) DMC, the mRNA expression of c-myc and hTERT decreased by (67.3 ± 2.1)% and (64.4 ± 2.3)%, respectively, and the protein expression of c-myc and hTERT decreased by (69.6 ± 1.9)% and (71.3 ± 2.4)%, respectively.

CONCLUSIONDMC can induce SMMC-7721 cell apoptosis and the apoptosis mechanism may be related to the decreased mRNA and protein expression of c-myc and hTERT.

Antineoplastic Agents ; pharmacology ; Apoptosis ; drug effects ; Carcinoma, Hepatocellular ; pathology ; Cell Line, Tumor ; Chalcones ; pharmacology ; DNA Fragmentation ; drug effects ; Dose-Response Relationship, Drug ; Humans ; Liver Neoplasms ; pathology ; Proto-Oncogene Proteins c-myc ; genetics ; metabolism ; RNA, Messenger ; genetics ; metabolism ; Syzygium ; chemistry ; Telomerase ; genetics ; metabolism

Objective To compare the differences of event-related potentials (ERP) of left and right cerebral hemispheres and behavioral characteristics in the mental arithmetic practice between ADHD and normal children,and to explore the neural mechanisms of mental arithmetic by ADHD children.Methods ERP and behavioral data of 32 ADHD and 32 normal children in mental arithmetic,to illustrate,simple addition,subtraction and multiplication within 20 were recorded.Results ERP:① The differences of N2 amplitudes in ADHD children 's left and right cerebral hemispheres while doing mental arithmetic,such as,addition,subtraction and multiplication were not statistically significant (addition:(-6.2±7.3) μV,(-6.6± 8.1) pV ; subtraction:(-5.5±6.4) μV,(-5.8± 6.5) μV ; multiplication:(-5.9± 8.2) μV,(-6.0± 8.6) μV ; all P＞0.05).However,normal group's N2 amplitude of left hemisphere(F3) were obviously higher than those of the right hemisphere (F4),considered to be statistically significant difference (addition:(-6.8±4.0) μV,(-5.9±4.3) μV ; subtraction:(-7.5±4.8) μV,(-6.3±4.4) μV ;multiplication:(-6.9±3.7)μV,(-5.7±4.4)pV ; all P＜0.05).② ADHD group's N2 amplitude of subtraction practice was significantly lower than that of addition and multiplication,while normal control group was the opposite.③There were not statistically difference between N2 incubation of left and right hemisphere while addition,subtraction,and multiplication were done (P＞0.05).Behaviorism:① ADHD group's reaction time towards answer making were much longer than those of the normal control group (addition:(983± 183) ms,(833± 164) ms ; subtraction:(1005±160)ms,(859±170)ms;multiphcation:(975±180)ms,(836±175)ms; P＜0.05).② Accurate rate:ADHD group were all lower than those of normal group.Conclusion There were functional limitations of no obviously advantage hemisphere and two hemisphere coordination while ADHD children were performing mental arithmetic,also hmitations in conflicting information processing,decision making,and more obviously in subtraction practice.

Objective To study effectiveness and effect on the internal environment of exchange transfusion using peripheral arteries and veins.Methods Exchange transfusion were performed through the peripheral arteries and veins on 22 cases of newborn infants with severe hyperbilirubinemia.Blood electrolyte,blood routine,blood bio- chemistry were measured before and after change blood.Vital signs were monitored electronically recorded.Results Total bilirubin was(595.28?134.44)?mol/L before exchange transfusion and(275.17?74.05)?mol/L after ex- change transfusion(P

Objective To determine whether the poking reduction and bone grafting technique with guide through bony tunnel can correct a Hill-Sachs lesion. Methods A total of 30 cadaveric humeri were equally divided into three groups, 10 cadaveric humeri per group. Hill-Sachs lesions were replicated with a osseous defect involving 10% (group A ) , 20% (group B ) and 30% (group C ) of the articular surface. All the bone defects in each group were measured and the poking reduction and bone grafting technique with guide through a bony tunnel was performed in group B and group C. The preoperative and postoperative transverse arc length, longitudinal are length, depth and volume of the osseous defects in group B and group C were compared by using paired t test. Results Before reduction, the transverse arc length of the bone defects was ( 10.9 ± 1.4 )mm in group B and ( 16.3 ± 2.3 ) mm in group C ; longitudinal arc length was ( 22.4 ± 2.4 ) mm in group B and ( 28.0 ± 2.2 ) mm in group C ;depth was (6.9±0.9) mm in group B and (11. 1 ±0.9) mm in group C; volume was (708.7±93.9) mm3 in group B and (1338.3 ± 185.6) mm3 in group C. After reduction, the transverse arc length of the bone defects was (5.1 ± 2.4 ) mm in group B and ( 7.6 ± 3.6 ) mm in group C ; longitudinal arc lengthwas (10.5 ±4.9) mm in group B and (12.3 ±5.3) mm in group C; depth was (0.3±0.1 ) mm in group B and (0.4 ±0.1 ) mm in group C; volume was (48.9 ± 16.1 )mm3 in group B and (70.3 ± 37.9) mm3 in group C. The comparison of all the parameters showed statistical difference (P <0. 01 ). Conclusion The poking reduction and bone grafting technique with guide through a bony tunnel can effectively correct the Hill-Sachs lesions with humeral head osseous defects involving 20% -30% of the articular surface.

Objective To evaluate the feasibility of sentinel lymph node biopsy(SLNB)during surgery of breast cancer. MethodsRadioactive colloid and blue dye were injected intradermally around the tumor seperately before the operation and the SLN were detected first by lymph scintigraphy. SLN was detected and located using ?-finder and the blue dye. Axillary lymph node dissection(ALND)was performed routinely after the SLNB. Results Among 116 breast cancer patients,this procedure was successful in 98.3% of cases. The sensitivity, accuracy and false negative rate were 93.6%, 97.4% and 6.4%, respectively. Conclusions SLNB is a simple, safe and reliable technique.Routine ALND could be raplaced by SLNB in breast cancer patients undergoing surgery.

Mean platelet volume (MPV) is an early marker of platelet activation.Larger platelets,compared to small ones,increase platelet adhesion and aggregation,and present a higher thrombotic activity.Some studies have explored the association between MPV and the morbidity of portal vein thrombosis (PVT).The aim of this study was to evaluate the predictive effect of MPV in patients with PVT by a meta-analysis.We searched Pubmed,Web of Science,SCOPUS,OVID,CNKI and CBMD from database inception to September 13,2017.Seven studies in accordance with selection criteria were included.The extraction of basic data was independently conducted by two reviewers.The mean difference in MPV between PVT patients and controls were pooled with weighted mean difference (WMD)and 95％ confidence interval of 0.88 fl (95％ CI:0.61-1.15).A random-effect model was chosen for an obvious heterogeneity in the pooling (Chi-square=27.12,df=6,P＜0.0001,I2=77.9％).The sources of heterogeneity were from the difference of primary disease of participants and portal vein diameter.Taken together,our results reveal that MPV is a predictive indicator in patients with PVT.

To identify the active constituents in vitro and blood-absorbed ingredients in vivo from Yin Chen Hao decoction provides scientific evidence for probing its prevention and treatment mechanism on acute liver injury. An ultrahigh performance liquid chromatography quadrupole-time of flight-mass spectrometry (UPLC-QTOF/MS) method was applied for analysis of Yin Chen Hao decoction and the serum samples of mice with con-A induced acute liver injury after preventive oral administration for 14 days (the use of all laboratory animals in this study was approved by the Ethics Committee of the Naval Medical University, 19YF1459400). A total of 90 chemical constituents were identified from Yin Chen Hao decoction, mainly were flavonoids, terpenoids, tannins, quinones. 5 prototype compounds were identified in the serum, including chrysophanol, deoxyrhapontin-8-O-gallate, mussaenosidic acid, herniarin, emodin. The established UPLC-QTOF/MS method could efficiently and sensitively identify the constituents in vitro and blood-absorbed ingredients of Yin Chen Hao decoction, primarily clarify the material basis of its hepatoprotective effect, and provided a scientific basis for the quality marker selection and the pharmacodynamic material basis research on the decoction.