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Biomedical subjects

N Wang

Publications and source records attributed to N Wang.

At least 163 records · Page 9Linked to original sources

Sialyl Lewis X, Lewis X, and N-acetyllactosamine expression on normal and glaucomatous eyes.

PURPOSE: Sialyl Lewis X (sLex), Lewis X (Lex), and N-acetyllactosamine are carbohydrate chains of neolactoglycoconjugates which are expressed by specific cell types and are important in the functioning of cells within an organism. This study attempts to determine the expression of these glycoconjugates on the conjunctiva, cornea, and trabecular meshwork (TM) of both normal and glaucomatous eyes. METHODS: Frozen anterior segment sections of both normal and glaucomatous human cadaver eyes, as well as rabbit eyes, were stained with a panel of monoclonal antibodies (mAbs) to neolactoglycoconjugates using an Avidin Biotin Peroxidase Complex/Alkaline Phosphatase staining method. RESULTS: SLex characteristically stained both human conjunctival and corneal epithelia in normal (n=5) and glaucomatous (n=5) sections. SLex stained corneal and conjunctival epithelia of glaucomatous eyes much more intensely than normal eyes. Rabbit cornea sections stained for sLex, Lex, and N-acetyllactosamine. However, human cornea only consistently stained with sLex. Normal and glaucomatous human TM sections did not stain for sLex, Lex, or N-acetyllactosamine. CONCLUSIONS: The expression of glycoconjugates with sLex side chains appears to be upregulated in the conjunctival and corneal epithelia of glaucomatous eyes. Distinct species specific differences were noted in Lex and N-acetyllactosamine staining patterns in rabbit and human corneal epithelia.

Aged↗

Relationship between fire fighting suppression tasks and physical fitness.

This investigation evaluated the relationship between physical fitness and performance of fire suppression tasks. The following mean +/- SD values were associated with 91 fire fighters: age 31.69 +/- 7.39 years, height 177.29 +/- 6.38 cm, weight 83.97 +/- 10.86 kg, % fat 13.78 +/- 4.31, fat free weight (FFW) 71.52 +/- 7.66 kg, pull-ups 9.03 +/- 4.79, push-ups 41.02 +/- 14.08, 1.5 mile run 737.60 +/- 108.11 s, sit and reach 32.00 +/- 8.5 cm, sit-ups 39.88 +/- 7.75, and total grip strength 116.75 +/- 17.67 kg. The physical performance assessment (PPA) consisted of the following: stair climb, hoist, forcible entry, hose advance, and victim rescue. Significant correlations (p < 0.01) were found between the PPA and the following: total grip strength (r = -0.54), FFW (r = -0.47), height (r = -0.40), pull-ups (r = -0.38), push-ups (r = -0.38), 1.5 mile run (r = 0.38), sit-ups (r = -0.32), weight (r = -0.30) and % fat (r = 0.30). Multiple regression analysis indicated that the best multiple predictor of PPA was the 1.5 mile run, FFW, and pull-ups, r = 0.73, p < 0.001. This investigation shows the importance of physical fitness as related to performance of fire suppression job tasks.

Adult↗

Colonic epithelial lymphocytosis without a thickened subepithelial collagen table: a clinicopathologic study of 40 cases supporting a heterogeneous entity.

Lymphocytic colitis (LC) is classically described as a triad of chronic nonbloody, watery diarrhea, normal or nearly normal endoscopy findings, and colonic epithelial lymphocytosis without a thickened subepithelial collagen table (SECT). It is unknown how often patients with colonic epithelial lymphocytosis without a thickened SECT actually present with this classic triad. Cases diagnosed histologically as lymphocytic or microscopic colitis were reviewed. Criteria for inclusion were the presence of at least 15 surface lymphocytes per 100 epithelial cells and the absence of a thickened SECT (<12 microm). Clinical features and course were recorded by chart review and telephone follow-up. Forty patients met the inclusion criteria, including 25 women and 15 men with a mean age of 63.2 years (range, 25-83 years). Twenty-eight patients had the classic triad and were designated as having classic LC. The other 12 patients fulfilled the histologic criteria but not the clinical or endoscopic criteria for classic LC and were classified as having atypical LC (constipation, five patients; macroscopic colitis at endoscopy, five patients; hematochezia, one patient; and incidental finding, one patient). Clinically, patients with classic LC were predominantly women and had a higher incidence of autoimmune disease (p = 0.03) than did those with atypical LC. Histologically, surface eosinophilia was significantly greater in patients with classic LC (p = 0.04). Twenty patients were using nonsteroidal antiinflammatory drugs at the time of their colonic biopsy. Surface epithelial lymphocyte counts were higher in these patients, particularly in the distal sigmoid colon (p = 0.02). Fourteen patients had associated autoimmune disease, including three patients with sprue diagnosed by small bowel biopsy, all of whom responded to gluten withdrawal. Diarrhea present in 25 patients, without documented evidence of celiac sprue, was self-limited in five, resolved with treatment in three, required intermittent treatment in eight, daily treatment in five, and was refractory to treatment in four. All eight patients who experienced spontaneous or treatment-related symptom resolution had classic LC. No histologic feature correlated with clinical course. In conclusion, our study shows that colonic epithelial lymphocytosis without a thickened SECT is a histologic finding seen in a heterogeneous group of patients. Within this heterogeneous group is a distinct subset of patients who have the classic clinicopathologic triad of LC. This subset of patients has striking similarities to patients with collagenous colitis, lending further support to a close relationship between these two entities. Atypical LC comprises a heterogeneous group and includes patients with idiopathic constipation, coexisting LC and inflammatory bowel disease, and possibly infectious colitides. Because of the clinical heterogeneity among our study population, the descriptive term colonic epithelial lymphocytosis may be a more prudent diagnosis than lymphocytic colitis in the absence of adequate clinical information.

Adult↗

Study on genital tract Chlamydia trachomatis and gonococcal infection in Han and minority (Naxi and Dai) women in China's two provinces.

OBJECTIVES: To estimate the prevalence of lower female genital tract chlamydial (GTC) and gonococcal infection in 3 different ethnic groups in China, and to analyze the risk factors influencing these infections. METHODS: A cross-sectional survey + physical and laboratory examinations. 1,800 married women aged 18-35 Han (600, from Dujiangyan city, Sichuan), Naxi (600, from Yanyuan county, Sichuan), and Dai (600, from Jinghong Prefecture, Yunnan) were investigated between March 1996 to March 1997. Information was obtained about their personal history, socioeconomic status, medical history, STDs, sexual history, contraceptive history, results of both examinations. Tabulation, t-test, Chi-square test, multiple-logistic models were used to analyze the data. RESULTS: 3.2% of Han, 12.8% of Naxi and 4.5% of Dai women tested positive for gonococci; and 9.1% of Han, 16.7% of Naxi and 27.5% of Dai women tested positive for GTC infection. The differences of GTC and gonococcal infections between Han and Naxi, and Han and Dai women were significant. CONCLUSIONS: STDs are common in China today; both GTC and gonoccocal infections are related to non-use of condom, having sexual partners other than husband, number of abortions, and low education; and condom has a function in prevention of STDs.

Adolescent↗

CspI, the ninth member of the CspA family of Escherichia coli, is induced upon cold shock.

Escherichia coli contains the CspA family, consisting of nine proteins (CspA to CspI), in which CspA, CspB, and CspG have been shown to be cold shock inducible and CspD has been shown to be stationary-phase inducible. The cspI gene is located at 35.2 min on the E. coli chromosome map, and CspI shows 70, 70, and 79% identity to CspA, CspB, and CspG, respectively. Analyses of cspI-lacZ fusion constructs and the cspI mRNA revealed that cspI is cold shock inducible. The 5'-untranslated region of the cspI mRNA consists of 145 bases and causes a negative effect on cspI expression at 37 degrees C. The cspI mRNA was very unstable at 37 degrees C but was stabilized upon cold shock. Analyses of the CspI protein on two-dimensional gel electrophoresis revealed that CspI production is maximal at or below 15 degrees C. Taking these results together, E. coli possesses a total of four cold shock-inducible proteins in the CspA family. Interestingly, the optimal temperature ranges for their induction are different: CspA induction occurs over the broadest temperature range (30 to 10 degrees C), CspI induction occurs over the narrowest and lowest temperature range (15 to 10 degrees C), and CspB and CspG occurs at temperatures between the above extremes (20 to 10 degrees C).

5' Untranslated Regions↗

SDF-2 induction of terminal differentiation in Dictyostelium discoideum is mediated by the membrane-spanning sensor kinase DhkA.

SDF-2 is a peptide released by prestalk cells during culmination that stimulates prespore cells to encapsulate. Genetic evidence indicates that the response is dependent on the dhkA gene. This gene encodes a member of the histidine kinase family of genes that functions in two-component signal transduction pathways. The sequence of the N-terminal half of DhkA predicts two hydrophobic domains separated by a 310-amino-acid loop that could bind a ligand. By inserting MYC6 epitopes into DhkA, we were able to show that the loop is extracellular while the catalytic domain is cytoplasmic. Cells expressing the MYC epitope in the extracellular domain of DhkA were found to respond only if induced with 100-fold-higher levels of SDF-2 than required to induce dhkA+ cells; however, they could be induced to sporulate by addition of antibodies specific to the MYC epitope. To examine the enzymatic activity of DhkA, we purified the catalytic domain following expression in bacteria and observed incorporation of labelled phosphate from ATP consistent with histidine autophosphorylation. Site-directed mutagenesis of histidine1395 to glutamine in the catalytic domain blocked autophosphorylation. Furthermore, genetic analyses showed that histidine1395 and the relay aspartate2075 of DhkA are both critical to its function but that another histidine kinase, DhkB, can partially compensate for the lack of DhkA activity. Sporulation is drastically reduced in double mutants lacking both DhkA and DhkB. Suppressor studies indicate that the cyclic AMP (cAMP) phosphodiesterase RegA and the cAMP-dependent protein kinase PKA act downstream of DhkA.

Animals↗

Characterization of chromosomal abnormalities in prostate cancer cell lines by spectral karyotyping.

Human prostate cancer is characterized by multiple gross chromosome alterations involving several chromosome regions. However, the specific genes involved in the development of prostate tumors are still largely unknown. Here we have studied the chromosome composition of the three established prostate cancer cell lines, LNCaP, PC-3, and DU145, by spectral karyotyping (SKY). SKY analysis showed complex karyotypes for all three cell lines, with 87, 58/113, and 62 chromosomes, respectively. All cell lines were shown to carry structural alterations of chromosomes 1, 2, 4, 6, 10, 15, and 16; however, no recurrent breakpoints were detected. Compared to previously published findings on these cell lines using comparative genomic hybridization, SKY revealed several balanced translocations and pinpointed rearrangement breakpoints. The SKY analysis was validated by fluorescence in situ hybridization using chromosome-specific, as well as locus-specific, probes. Identification of chromosome alterations in these cell lines by SKY may prove to be helpful in attempts to clone the genes involved in prostate cancer tumorigenesis.

Aneuploidy↗

Probucol enhances selective uptake of HDL-associated cholesteryl esters in vitro by a scavenger receptor B-I-dependent mechanism.

Recently, the class B, type I scavenger receptor (SR-BI) has been shown to mediate the selective uptake of high density lipoprotein (HDL) cholesteryl esters (CEs), ie, lipid uptake independent of HDL holoparticle uptake. In vivo, this selective uptake delivers CEs to the liver for excretion and to steroidogenic tissues for hormone synthesis. Probucol, a hydrophobic antioxidant drug, lowers plasma cholesterol in humans and rodents and may inhibit progression of atherosclerosis and postangioplasty restenosis. In this study, the effect of probucol on HDL selective CE uptake was investigated in mice and in cells expressing SR-BI. Probucol feeding lowered plasma HDL cholesterol and markedly increased selective CE uptake from HDL in the liver and adrenal glands. However, probucol did not alter SR-BI protein levels in membranes from these organs. When incubated with control Chinese hamster ovary (CHO) cells, HDL isolated from probucol-treated mice (P-HDL) and HDL from control mice (C-HDL) showed similar low selective uptake of CEs. However, when incubated with SR-BI-transfected CHO cells, P-HDL showed a 2-fold increase in selective uptake compared with C-HDL. In an adrenal cell line (Y1-BS1), which expresses SR-BI in an adrenocorticotropic hormone-inducible manner, P-HDL showed significantly greater selective CE uptake than did C-HDL, and the differential response was amplified by adrenocorticotropic hormone treatment. In contrast to P-HDL, incorporation of this compound into HDL in vitro did not result in stimulation of selective CE uptake by SR-BI-transfected CHO cells, even though a significant mass of probucol could be detected in the HDL preparation. The specific interaction of P-HDL with SR-BI in cell culture could be observed after only 24 hours of probucol feeding, when there were minimal changes in HDL size and composition. Thus, probucol or one of its metabolites increases selective CE uptake in vivo by modifying HDL in a way that causes enhanced interaction with SR-BI. The increased interaction of P-HDL with SR-BI in the liver and arterial wall may be partly responsible for the effects of probucol on atherosclerosis and restenosis.

Administration, Oral↗

Adenovirus-mediated overexpression of c-Jun and c-Fos induces intercellular adhesion molecule-1 and monocyte chemoattractant protein-1 in human endothelial cells.

As distal targets and mediators of signal transduction pathways, activator protein-1 (AP-1), c-Jun, and c-Fos are among the primary regulators of genes involved in cell function, proliferation, and differentiation. By using adenovirus-mediated gene transfer, we show that overexpression of AP-1 proteins directly causes coinduction of gene expression of an adhesion molecule, intercellular adhesion molecule-1 (ICAM-1), and a chemokine, monocyte chemoattractant protein-1 (MCP-1), in human vascular endothelial cells (ECs). The AP-1-induced gene expression occurs through a mechanism independent of nuclear factor-kappaB. Because the induced expression of ICAM-1 and MCP-1 in ECs has been implicated in endothelial activation and a number of important vascular disorders, it is suggested that AP-1 activation may play an important role in the pathogeneses of inflammation, angiogenesis, and atherogenesis.

Adenoviridae↗

Effect of chromosome 19 transfer on blood pressure in the spontaneously hypertensive rat.

Linkage studies in the spontaneously hypertensive rat (SHR) have suggested that a gene or genes regulating blood pressure may exist on rat chromosome 19 in the vicinity of the angiotensinogen gene. To test this hypothesis, we measured blood pressure in SHR progenitor and congenic strains that are genetically identical except for a segment of chromosome 19 containing the angiotensinogen gene transferred from the normotensive Brown Norway (BN) strain. Transfer of this segment of chromosome 19 from the BN strain onto the genetic background of the SHR induced significant decreases in systolic and diastolic blood pressures in the recipient SHR chromosome 19 congenic strain. To test for differences in angiotensinogen gene expression between the congenic and progenitor strains, we measured angiotensinogen mRNA levels in a variety of tissues, including aorta, brain, kidney, and liver. We found no differences between the progenitor and congenic strains in the angiotensinogen coding sequence or in angiotensinogen expression that would account for the blood pressure differences between the strains. In addition, no significant differences in plasma levels of angiotensinogen or plasma renin activity were detected between the 2 strains. Thus, transfer of a segment of chromosome 19 containing angiotensinogen from the BN rat into the SHR induces a decrease in blood pressure without inducing any major changes in plasma angiotensinogen levels or plasma renin activity. These results indicate that the differential chromosome segment trapped in the SHR chromosome 19 congenic strain contains a quantitative trait locus that influences blood pressure in the SHR but that this blood pressure effect is not explained by differences in plasma angiotensinogen levels or angiotensinogen expression.

Angiotensinogen↗

Genetic isolation of a chromosome 1 region affecting susceptibility to hypertension-induced renal damage in the spontaneously hypertensive rat.

Linkage studies in the fawn-hooded hypertensive rat have suggested that genes influencing susceptibility to hypertension-associated renal failure may exist on rat chromosome 1q. To investigate this possibility in a widely used model of hypertension, the spontaneously hypertensive rat (SHR), we compared susceptibility to hypertension-induced renal damage between an SHR progenitor strain and an SHR congenic strain that is genetically identical except for a defined region of chromosome 1q. Backcross breeding with selection for the markers D1Mit3 and Igf2 on chromosome 1 was used to create the congenic strain (designated SHR.BN-D1Mit3/Igf2) that carries a 22 cM segment of chromosome 1 transferred from the normotensive Brown Norway rat onto the SHR background. Systolic blood pressure (by radiotelemetry) and urine protein excretion were measured in the SHR progenitor and congenic strains before and after the induction of accelerated hypertension by administration of DOCA-salt. At the same level of DOCA-salt hypertension, the SHR.BN-D1Mit3/Igf2 congenic strain showed significantly greater proteinuria and histologically assessed renal vascular and glomerular injury than the SHR progenitor strain. These findings demonstrate that a gene or genes that influence susceptibility to hypertension-induced renal damage have been trapped in the differential chromosome segment of the SHR.BN-D1Mit3/Igf2 congenic strain. This congenic strain represents an important new model for the fine mapping of gene(s) on chromosome 1 that affect susceptibility to hypertension-induced renal injury in the rat.

Animals↗

Suppression of mitogenesis and regulation of cell cycle traverse by resveratrol in cultured smooth muscle cells.

Resveratrol (3,5,4'-trihydroxystilbene), a natural product derived from grapes, has been reported to exert a plethora of biological functions. Recent studies suggest that resveratrol could act as a cardioprotective agent by controlling the oxidation of low density lipoproteins, as well as the proliferation of endothelial cells. Since migration and proliferation of smooth muscle cells (SMCs) in the intima of susceptible vessels is also widely accepted as a requisite for atherogenesis, we investigated the effects of resveratrol on proliferation and cell cycle control of cultured smooth muscle cells. Results of these experiments are reported herein. Resveratrol reduces SMC proliferation in a dose-dependent manner, with 50-100 microM resveratrol resulting in 70-90% reduction of SMC proliferation induced by such diverse mitogens as serum, endothelin and PDGF. The anti-mitogenic effects of resveratrol are not mediated by the induction of apoptosis, but appear to relate to a G1-->S block in cell cycle traverse. These results give further support to the hypothesis that resveratrol holds promise as an anti-atherosclerotic agent.

Animals↗

[Missense mutations of exons 14 and 18 of Wilson's disease gene in Chinese patients].

OBJECTIVE: To investigate the characteristics of mutations of exons 14 and 18 of Wilson's disease (WD) gene in Chinese patients. METHODS: The subjects of study included 60 unrelated normal controls and 44 unrelated WD patients. Genomic DNA was prepared from peripheral blood leukocytes by a salt-out method. Mutations of exons 14 and 18 in these subjects were screened by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) and further confirmed by sequencing. RESULTS: One patient was homozygous for Arg1041Pro mutation of exon 14 and another patient was heterozygous for Asn1270Ser mutation of exon 18. CONCLUSION: The mutations of exons 14 and 18 of WD gene in Chinese patients were confirmed by sequencing for the first time in China. Arg1041Pro was identified as a novel missense mutation. In addition, an Asn1270Ser, previously described mutation, was detected in this study. But exons 14 and 18 are not the hot point mutations of WD gene in Chinese patients.

Adolescent↗

Excimer laser effects on outflow facility and outflow pathway morphology.

PURPOSE: To determine the relative contributions to aqueous outflow resistance of the tissues distal to the inner wall of Schlemm's canal. METHODS: While performing constant pressure perfusion at 10 mm Hg, a 193-nm excimer laser (Questek) was used to precisely remove portions of sclera, unroofing Schlemm's canal while leaving the inner wall intact. The laser beam was masked to produce a beam 2 mm by 1 mm. The laser output was constant at a fluency of 75 mJ/cm2 and 20 Hz. The excimer laser at a frequency of 1 Hz was used as the aiming beam. Photoablation was performed on human cadaver eyes at the limbus at an angle of 0 degrees to 45 degrees from the optical axis. As the excimer photoablations progressed, Schlemm's canal was visualized by the fluorescence of the Barany's solution containing fluorescein dye. After perfusion fixation the eyes were immersion-fixed overnight. The facility of outflow before (Co) and after (Ce) the excimer ablation was measured in 7 eyes. RESULTS: The facility of outflow increased in all eyes after the excimer sinusotomy, from a mean of 0.29+/-0.02 before the sinusotomy to 0.37+/-0.03 microl/min per mm Hg after (P < 0.05). The mean ratio of outflow facility after and before ablation (Ce/Co) was 1.27+/-0.08 (range, 1.20-1.39), a reduction of outflow resistance of 21.3%. Using the formula of Ellingsen and Grant (1972), percentage of resistance to outflow eliminated = 100 [1 - alphaCo/Ce - (1 - alpha)Co], where alpha = fraction of the circumference dissected. Assuming that because of circumferential flow approximately 50% of Schlemm's canal is drained by the single opening made in the outer wall ablation studies, this results in resistance to outflow eliminated of 35%, which is consistent with the calculated eliminated resistance derived from the data of Rosenquist et al., 1989. Light and scanning electron microscopy confirmed the integrity of the inner wall Schlemm's canal underlying the area of ablation. CONCLUSIONS: The results provide direct evidence indicating that approximately one third of resistance to outflow in the human eye lies distal to the inner wall Schlemm's canal in an enucleated perfused human eye.

Anterior Chamber↗

Regulation of adrenal scavenger receptor-BI expression by ACTH and cellular cholesterol pools.

Scavenger receptor BI (SR-BI) mediates selective uptake of high density lipoprotein (HDL) cholesteryl ester in the liver and adrenal gland. Adrenal SR-BI is increased both in adrenocorticotropic hormone (ACTH)-treated mice and also in apolipoprotein A-I knock-out (apoA-I0) mice which have depleted adrenal cholesterol stores. The goal of the present study was to determine whether adrenal cholesterol stores and ACTH have independent effects on SR-BI expression in adrenal gland. Adrenal SR-BI levels were 5-fold higher in apoA-I0 than wild-type mice when killed under low stress condition, and plasma ACTH levels were similar in both strains. After male apoA-I0 or wild-type mice were treated with dexamethasone to suppress ACTH release, adrenal SR-BI protein levels were decreased in both groups but remained 13-fold higher in apoA-I0 than in wild-type mice. By contrast, uncontrolled stress or supplemental ACTH treatment increased SR-BI levels but narrowed the difference in SR-BI expression between apoA-I0 and wild-type. Cholesterol depletion by beta-cyclodextrin in cultured Y1-BS1 adrenal cells also led to a rapid 2- to 3-fold increase in SR-BI mRNA and protein levels, in association with a significant depletion of cellular free cholesterol. These results indicate that depletion of adrenal cholesterol stores can act independently from ACTH to increase SR-BI expression, but in vivo this effect is diminished under high ACTH conditions. Both stimuli may increase selective uptake via increased SR-BI as a means of replenishing cholesterol stores for steroid hormone synthesis.

Adrenal Glands↗

Relationship between DNA adduct levels, repair enzyme, and apoptosis as a function of DNA methylation by azoxymethane.

DNA alkylating agent exposure results in the formation of a number of DNA adducts, with O6-methyl-deoxyguanosine (O6-medG) being the major mutagenic and cytotoxic DNA lesion. Critical to the prevention of colon cancer is the removal of O6-medG DNA adducts, either through repair, for example, by O6-alkylguanine-DNA alkyltransferase (ATase) or targeted apoptosis. We report how rat colonocytes respond to administration of azoxymethane (a well-characterized experimental colon carcinogen and DNA-methylating agent) in terms of O6-medG DNA adduct formation and adduct removal by ATase and apoptosis. Our results are: (a) DNA damage is greater in actively proliferating cells than in the differentiated cell compartment; (b) expression of the DNA repair enzyme ATase was not targeted to the proliferating cells or stem cells but rather is confined primarily to the upper portion of the crypt; (c) apoptosis is primarily targeted to the stem cell and proliferative compartments; and (d) the increase in DNA repair enzyme expression over time in the bottom one-third of the crypt corresponds with the decrease in apoptosis in this same crypt region.

Alkyl and Aryl Transferases↗

[Management of destructive electrical burns of wrist].

OBJECTIVE: To reduce amputation rate of most severe pattern (Type III) of electrical burns of wrist. METHODS: Early wrist decompression followed by selective transfusion of dextran, PGE1, low molecule heparin to prevent thrombosis of injured radial and ulnar arteries, vascular bridging across the distal forearm and wrist to the hand soon after the appearance of circulatory failure to the hand. Free tissue transfer, especially the use of greater omentum and the innovated abdominal flaps, to repair the circumferential wounds of the wrists are recommended. RESULTS: A group of 102 limbs of 90 patients were treated in the last 10 years, among them the amputation rate of most severe pattern (Type III) of electrical burns of wrists was significantly reduced from 80% to 38.9% compared with 10 years before. CONCLUSION: A comprehensive treatment including the use of anticoagulation drugs, vascular reconstruction, sophisticated surgical repair of the wound are effective in reducing the amputation rate of electrical burns of wrists.

Adolescent↗

[Another hot point mutation of Wilson disease gene in Chinese: exon 12].

OBJECTIVES: To study the feature of disease-causing mutation of exon 12 of Wilson disease (WD) gene in Chinese and evaluate its value in direct gene diagnosis. METHODS: Genomic DNA of 44 unrelated WD patients and 60 normal controls was prepared from peripheral blood leukocytes by a salt-out method. The mutation of exon 12 in these subjects was identified by PCR-single strand conformation polymorphism (SSCP) and further confirmed by direct sequencing. RESULTS: Two missense mutations were identified in 8 cases (18%), including 6 cases of heterozygous for Thr935Met mutation and 2 of heterozygous for Gly943Asp mutation. Different features of mutation of exon 12 were noted between Chinese and Caucasian. Both Thr935Met and Gly943Asp were novel missense mutations and exon 12 was another hot point mutation of WD in Chinese besides exon 8. CONCLUSION: The finding helps establish a fast and effective direct gene diagnosis.

Asian People↗