Ultrasound biomicroscopy (UBM) has been applied in ophthalmology for twenty years. It plays an important role in diagnosis of eye diseases, especially in glaucoma. After years of research, It has been developed in its structure, sensors, imaging technology and applied research.
Diagnostic Techniques, Ophthalmological ; Microscopy, Acoustic

In this paper, we designed an oxygen saturation, heart rate, respiration rate monitoring system based on smartphone of android operating system, physiological signal acquired by MSP430 microcontroller and transmitted by Bluetooth module.
Cell Phone ; Equipment Design ; Heart Rate ; Humans ; Monitoring, Physiologic ; instrumentation ; Oxygen ; Respiratory Rate ; Software ; Wireless Technology

Ultrasound biomicroscopy is an important ultrasound medical instrument and primary used in ophthalmology.The article design a probe of ultrasound biomicroscopy which is Portable, Low power consumption and High performance. Which can be used when plug in the computer USB interface.
Equipment Design ; Microscopy, Acoustic ; Ophthalmology

The detection and dynamic monitoring of intraocular pressure have important clinical significance for the diagnosis and treatment of glaucoma. The current status of clinical intraocular pressure detection and dynamic intraocular pressure monitoring are reviewed. The technical challenges encountered, and the shortcomings of the existing technology are analyzed, in order to expect better intraocular pressure monitoring technology to be applied to patients.
Glaucoma/diagnosis* ; Humans ; Intraocular Pressure ; Technology ; Tonometry, Ocular

Objective To detectthe phenotype and gene mutations underlying aninherited dysplasminogenemia pedigree and search the virulence gene.Methods The peripheral venous blood samples of the proband and his family members (fourteen subjects of three generations in total) were collected,and their prothrombin time(PT),activated partial thromboplastin time(APTF),thrombin time(TT),fibrinogen (FIB),fibrinogen degradation products (FDP),D-dimmer (D-D)weretested on a STAGO analyzer,the plasminogen activity (PLG:A) and plasminogen antigen (PLG:Ag) were analyzedby thechromogenic substrate assay and rocket immunoelectrophoresis,respectively.All 19 exons,5' and 3' untranslated regions of PLGwere amplified with PCR.Direct DNA sequencing was used to analyze the amplified products,which wereconfirmed by backward sequencing.Three bioinformatics online softwares (SIFT,PolyPhen-2 andMutationTaster) were used to forecast the possible impact of the mutations on the protein function.At last,themodel analysis of mutate site was taken on a Swiss-Pdb Viewer software.Results The PLG:Avalue of theproband and other 6 family members were decreased to the half,while the PLG:Ag was normal.The D-Dand FDP value of the proband,his grandma and father were slightly higher.DNA sequencing has revealedthat the proband and the other 6 members of this family had the same mutation of g.38829G ＞ A in exon 15,leading to the missense mutationp.Ala601Thr.The results of bioinformatics softwares showed that themutation could affect the thePLGfunction.Protein model analysis indicated that the hydrophobic interaction force and hydrogen bond between the amino acids were changed,which might affect the stability of the PLG.In addition,all the members of this family take the heterozygous SNP of g.2501C ＞ A in the 5 ＇UTR.Conclusions The p.Ala601Thr found in the inherited dysplasminogenemia pedigree in the exon 15 was responsible for the reduced PLG:A of the family,the dysplasminogenemia and this mutation were both reported for the first time in China.

Objective To study the relationship between the valine/leucine247 (817G/T) polymorphism in exon 7 of apolipoprotein H (apoH) gene and the generation of antiphospholipid (APL)antibodies in patients of Han nationality with systemic lupus erythematosus (SLE) in Wenzhou region.Methods This study included 165 patients with SLE and 160 healthy controls of Han nationality in Wenzhou region.Venous blood samples were obtained from all of the subjects followed by the isolation of blood plasma,sera and white blood cells.PCR and DNA sequencing were carried out to assess the Leu/Va1247 polymorphism in apoH gene.Lupus anticoagulant (LAC) was detected by Russell viper venom time (RVVT) assay.Enzyme-linked immunosorbent assay (ELISA) was carried out to quantify the serum levels of anti-β2-glycoprotein Ⅰ (GPI) antibodies and anticardiolipin antibodies (ACA).Chi-square test was carried out to compare the 817G/T polymorphism between the patients and controls,and Logistic regression analysis to evaluate the correlation between the 817G/T polymorphism and production of antiphospholipid antibodies.Results There were significant differences between the patients and controls in the genotype distribution and allele frequency at position 817 of apoH gene (both P ＜ 0.01).The TT,GT genotypes and T allele were more frequent,while GG genotype and G allele were less frequent,in the patients than in the controls.The GT genotype at position 817 was a risk factor for the production of LAC (P＜ 0.05,OR =2.33,95％CI =1.18-4.59),anti-β2GPl antibodies(P＜ 0.01,OR =5.92,95％CI =2.61-13.46) and ACA(P＜ 0.05,OR =2.52,95％CI =1.22-5.24),and the TT genotype was associated with an increased frequency of anti-β2GPI antibodies (P ＜ 0.01,OR =5.84,95％CI =1.69-20.20).Conclusions The 817G/T(Leu/Va1247) polymorphism in exon 7 of apoH gene is associated with the generation of APL antibodies in patients of Han nationality with SLE in Wenzhou region.The TT and GT genotypes at position 817 of apoH gene appear to be a risk factor for the production of APL antibodies.

OBJECTIVETo explore the pathogenesis of protein C deficiency in two pedigrees through mutation detection and model analysis.

METHODSChromogenic substrate method and enzyme linked immunosorbent assay (ELISA) were used to determine the plasma protein C activity (PC: A) and protein C antigen (PC: Ag) in the two probands and their family members. All of the 9 exons and intron-exon boundaries of the PROC gene were amplified by PCR and analyzed with Sanger sequencing after purification. Corresponding mutate sites of the family members were also amplified and sequenced. The PolyPhen-2 software was used to analyze the perniciousness of the mutations and Clustal X was to analyze the conservatism. The protein model and amino acids interaction of the mutations were analyzed by Swiss-PdbViewer software.

RESULTSThe PC: A and PC: Ag of proband 1 was 30% and 35%, while PC:A of his father, mother and aunt were all slightly under the reference range. Two heterozygous missense mutations were found in exons 7 and 5 of the PROC gene, namely c.565 C>T (p.Arg147Trp) and c.383 G>A (p.Gly86Asp). His father and aunt were carriers for c.565 C>T, while his mother had carried c.383 G>A. The PC: A of proband 2 and his son were 50% and 64%, respectively. And they were both positive for p.Arg147Trp. Analysis of PolyPhen-2 indicated that p.Arg147Trp was benign, while p.Gly86Asp was damaging. Clustal X analysis indicated that the p.Arg147Trp was non-conservative, while the p.Gly86Asp was highly conservative. Modeling for the mutant proteins revealed that the simple aromatic ring of Trp147 in p.Arg147Trp destroyed the two hydrogen bonds between Arg147-Lys146 and Arg147-Lys151, and steric hindranted with Arg178. The side chain of Asp86 extended and generated steric clash with Gln90 with the occurrence of p.Gly86Asp. The change of hydrogen bonds and steric effects has altered the spatial configuration of amino acids, which led to unstable mutate proteins and interfered with the secretion.

CONCLUSIONBoth probands had hereditary protein C deficiencies, for which their parents were all carriers. The heterozygous mutations p.Arg147Trp and p.Gly86Asp were the main cause for PC: A activity decrease. Among these, p.Gly86Asp was discovered for the first time.

Base Sequence ; Child ; DNA Mutational Analysis ; methods ; Family Health ; Female ; Heterozygote ; Humans ; Hydrogen Bonding ; Male ; Middle Aged ; Models, Molecular ; Mutation ; Pedigree ; Phenotype ; Protein C ; chemistry ; genetics ; metabolism ; Protein C Deficiency ; blood ; genetics ; Protein Domains

OBJECTIVETo explore the phenotype, genotype and molecular mechanism for two pedigrees affected with hereditary antithrombin (AT) deficiency.

METHODSClinical diagnosis was validated by assaying of coagulation parameters including prothrombin time, activated partial thromboplastin time, thrombin time, fibrinogen, antithrombin activity (AT:A) and specific antigen (AT:Ag), protein C activity, as well as protein S activity. To detect potential mutations in the probands, all exons, exon-intron boundaries and the 3', 5' untranslated regions were amplified by PCR and subjected to direct sequencing. Suspected mutation was confirmed by reverse sequencing and silver staining. The effect of mutations on the AT protein was analyzed with bioinformatics software.

RESULTSThe AT:Ag of pedigree 1 was normal, but its AT:A has reduced to 30%. A heterozygous c.235C>T mutation in exon 2 causing p.Arg47Cys, in addition with two single nucleotide polymorphisms (c.981G>A, c.1011G>A) in exon 5 were identified in the patient. His four children, except for the elder daughter, were heterozygous for the mutations. The plasma levels of AT:A and AT:Ag in proband 2 have decreased to 39% and 103 mg/L, respectively. A heterozygous deletion (g.5890-5892delCTT) leading to loss of p.Phe121 was also detected in his father. Bioinformatic analysis suggested that the missense mutation Arg47Cys can affect the functions of AT protein. Meanwhile, lacking of Phe121 will result in loss of hydrogen bonds with Ala124, Lys125 and the cation π interactions with Lys125, Arg47, which may jepordize the stability of the protein.

CONCLUSIONThe proband 1 had type II AT deficiency, while proband 2 had type I AT deficiency. The p.Arg47Cys and g.5890-5892delCTT mutations of the AT gene are significantly correlated with the levels of AT in the two probands, respectively.

Adult ; Aged, 80 and over ; Antithrombin III ; genetics ; metabolism ; Antithrombin III Deficiency ; enzymology ; genetics ; physiopathology ; Exons ; Female ; Genetic Testing ; Genotype ; Humans ; Male ; Mutation ; Partial Thromboplastin Time ; Pedigree ; Phenotype ; Protein C ; genetics ; metabolism ; Protein S ; genetics ; metabolism

Objective To evaluate the effect of extremity ischemia preconditioning on lung protection in patients undergoing pulmonary lobectomy,and to further explore its possible mecha-nisms.Methods Forty patients (male 26 and female 14,BMI 20-28 kg/m2,ASA Ⅰ or Ⅱ,aged 45-64 years old)scheduled for elective pulmonary lobectomy via a thoracoscope,were randomly divided into two groups:extremity ischemic preconditioning group (group P)had the left leg roots tied with a tourniquet,lower extremity blood flow aerated blocked for 5 min,then deflated to restore blood flow for 5 min,the cycle was repeated three times;control group (group C)had the left lower extremity tied but not charged for 30 min.All the patients underwent intravenous-inhaled composite anesthesia. Arterial and venous blood samples were taken after admission to the operating room,at 6 h,12 h and 24 h after operation.The alveolar-arterial oxygen pressure difference (PA-aO2),respiratory index(RI) and oxygenation index (OI)were calculated.The level of TLR4 was measured.The pulmonary com-plications within 48 h after operation were recorded.The adverse reactions of the left lower extremity of the group P were recorded.Results Compared with the admission to the operating room,the ex-pression of TLR4 was significantly increased in the two groups at 6 h,12 h and 24 h after operation, but the expression of the group P was significantly lower than that of group C (P<0.05).Compared with the admission to the operating room,PA-aO2and RI were significantly increased,and OI was sig-nificantly decreased in the two groups at 6 h,12 h and 24 h after operation (P<0.05).Compared with group C,PA-aO2and RI were significantly decreased,and OI was significantly increased in group P (P<0.05).There was no statistically significant difference in the incidence of pneumonia and ate-lectasis in the two groups after operation,and no respiratory failure was observed in both groups.The left lower extremity of the group P had no adverse reactions,such as rupture of skin,thromboembo-lism,and nerve injury.Conclusion Extremity ischemic preconditioning has protective effect on pul-monary function in the patients undergoing pulmonary lobectomy,which may be related to down-reg-ulation of TLR4 expression in monocytes of blood and inhibition of the systemic inflammatory re-sponse.

OBJECTIVE: To analyze the clinical phenotype and genetic basis for a Chinese pedigree affected with coagulation factor XI (FXI) deficiency. METHODS: Activated partial thromboplastin time (APTT) and other blood coagulation factors, and activities of FXI:C and other relevant coagulation factors for a large Chinese pedigree including 6 patients from 3 generations were determined on a Stago automatic coagulometer. The FXI:Ag was determined with an ELISA method. All exons and flanking regions of the F11 gene were subjected to Sanger sequencing. ClustalX-2.1-win software was used to analyze the conservation of amino acids. Pathogenicity of the variants was predicted with online bioinformatics software including Mutation Taster and Swiss-Pdb Viewer. RESULTS: The APTT of the proband was prolonged to 94.2 s. The FXI:C and FXI:Ag were decreased to 1% and 1.3%, respectively. The APTT of her father, mother, son and daughter was 42.1 s, 43.0 s, 42.5 s and 41.0 s, respectively. The FXI:C and FXI:Ag of them were almost halved compared with the normal values. The APTT, FXI:C and FXI:Ag of her husband were all normal. Genetic testing revealed that the proband has carried a heterozygous missense c.1103G>A (p.Gly350Glu) variant in exon 10 and a heterozygous missense c.1556G>A (p.Trp501stop) variant in exon 13 of the F11 gene. The father and daughter were heterozygous for the c.1103G>A variant, whilst the mother and son were heterozygous for the c.1556G>A variant. Both Gly350 and Trp501 are highly conserved among homologous species, and both variants were predicted to be "disease causing" by Mutation Taster. Protein modeling indicated there are two hydrogen bonds between Gly350 and Phe312 in the wild-type, while the p.Gly350Glu variant may add a hydrogen bond to Glu and Tyr351 and create steric resistance between the two, both may affect the structure and stability of protein. CONCLUSION The c.1103G>A and c.1556G>A compound heterozygous variants probably underlay the pathogenesis of congenital FXI deficiency in this pedigree.
Exons/genetics* ; Factor XI/genetics* ; Factor XI Deficiency/genetics* ; Female ; Heterozygote ; Humans ; Male ; Mutation ; Pedigree