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61.
Brandhagen DJ Fairbanks VF Baldus WP Smith CI Kruckeberg KE Schaid DJ Thibodeau SN 《The American journal of gastroenterology》2000,95(10):2910-2914
OBJECTIVE: The HFE gene contains two mutant alleles; C282Y and H63D. The C282Y mutation occurs in 55-100% of patients with hereditary hemochromatosis. The aim of our study was to re-examine the frequencies of the C282Y and H63D mutations in patients with mild and marked iron overload and in normal subjects. METHODS: A total of 82 patients with iron overload were included in this study and had hepatic iron index determination and/or quantitation of iron stores by phlebotomy. The control group consisted of 81 healthy blood donors. HFE mutation analysis was performed on leukocyte DNA using PCR-amplified genomic DNA. RESULTS: Of patients with iron overload, 70/82 (85%) were homozygous for C282Y versus 2/81 (2.5%) in the control population. Four patients had no HFE mutations despite significant iron overload, including a sister and brother (brother not included in the study group) with hepatic iron concentrations >500 micromoles/g dry weight. CONCLUSIONS: In all, 85% of our patients with iron overload were C282Y homozygotes, although a few had no HFE gene mutations. Pooled data and analysis of chromosomes considered to be at risk for H63D indicate that H63D is associated with iron overload. 相似文献
62.
Detection of clonal platelet antibodies in immunologically-mediated thrombocytopenias: association with circulating clonal/oligoclonal B cells 总被引:5,自引:0,他引:5
Douglas J. Christie Shari C. Sauro Kyrsten D. Fairbanks Neil E. Kay 《British journal of haematology》1993,85(2):277-284
Summary Aware that T and B cells in autoimmune thrombocytopenia are abnormal, including the existence of clonal B cell populations, we sought to characterize this clonal phenomenon in various immunological thrombocytopenias using platelet antibody light chain analysis, flow cytometry, Southern blot analysis, and PCR. Using a monoclonal antibody-antigen capture ELISA, we analysed sera from 21 of 26 patients with autoimmune, alloimmune. or drug-induced immunological thrombocytopenia for the light chain phenotypes of their platelet antibodies. Alloantibodies and drug-dependent antibodies from four and 14 patients, respectively, were found that expressed a predominant type of light chain, suggesting that these platelet-reactive antibodies were monoclonal or oligoclonal in nature. 14 of the 26 patients were available for light chain B cell phenotyping studies. Of these 14 patients, thrombocytopenia was due to autoimmunity in two, drug-induced immunity in four, and alloimmunity in eight. We detected clonal populations of B cells in all 14 patients by flow cytometry. Although six of these latter patients possessed platelet antibodies with clonal characteristics, light chain phenotypes of antibodies in five patients were opposite to those of their B cells. Eight of these patients were further examined for immunoglobulin gene rearrangement using Southern and/or polymerase chain reaction analysis. In all eight patients we detected clonal or oligoclonal B cell populations. Only two of these patients had malignancies (chronic lymphocytic leukaemia) that would be expected to have detectable clonal B cells, and thus the mechanism for clonal expansion in the other six patients did not appear to he related to an obvious neoplastic process. Prior to these studies, detection of clonal B cells in thrombocytopenic patients without known malignancies was limited to individuals with autoimmune thrombocytopenia, prompting the speculation that this particular autoimmune disorder arises from B cell dysregulation, rather than from expansion of specific autoantibody producing B cell clones. In contrast, the current studies provide evidence that clonal B cells are common to patients with any form of immunologically-mediated thrombocytopenia. Moreover, the majority of the platelet antibodies (86%) present in these disorders exhibited monoclonal characteristics in that there was an apparent restriction in light chain usage. 相似文献
63.
A New Variant of Hereditary Hemolytic Anemia With Stomatocytosis and Erythrocyte Cation Abnormality 总被引:4,自引:1,他引:4
MILLER DENIS R.; RICKLES FREDERICK R.; LICHTMAN MARSHALL A.; LA CELLE PAUL L.; BATES JONATHAN; WEED ROBERT I. 《Blood》1971,38(2):184-204
A new variant of congenital hemolyticanemia associated with stomatocytosis,reticulocytosis, decreased osmotic fragility, type I autohemolysis and shortened erythrocyte survival without specific splenic sequestration was discoveredin three siblings of Swiss-German ancestry. Increased intracellular sodium(two to three times normal) and slightlydecreased intracellular potassium weredetected. Total sodium efflux was eight-fold greater than normal but total potassium influx was normal and ouabain-sensitive potassium influx was decreased.The ouabain-sensitive sodium efflux:potassium influx ratio was 26:1 ratherthan the 3:2 ratio noted in normal cells.The consanguineous parents, four othersiblings, and 44 other family membershad mild stomatocytosis, reticulocytosis,and, when studied, decreased osmoticfragility, increased autohemolysis, intermediate abnormalities of cation content,cation flux, and moderate shortening oferythrocyte survival. Autosomal dominant inheritance was suggested. Noabnormalities of RBC enzymes, hemoglobin or lipids were observed. No abnormalities of membrane protein weredetected on acrylamide gel. Substratedepletion of these hypermetabolic cellsresulted in intracellular dehydrationwith potassium loss in excess of sodiumgain and decreased deformability. Although the exact nature of the defectresponsible for hemolysis is unknown,this syndrome differs from other hereditary hemolytic anemias associated withstomatocytosis. Submitted on December 21, 1970 Revised on March 16, 1971 Accepted on March 29, 1971 相似文献
64.
Wireless Ultrasound Guidance for Femoral Venous Cannulation in Electrophysiology: Impact on Safety,Efficacy, and Procedural Delay
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DANIEL RODRÍGUEZ MUÑOZ M.D. EDUARDO FRANCO DÍEZ M.D. JAVIER MORENO M.D. Ph.D. GIUSEPPE LUMIA M.D. ALEJANDRA CARBONELL SAN ROMÁN M.D. TERESA SEGURA DE LA CAL M.D. ROBERTO MATÍA FRANCÉS M.D. Ph.D. ANTONIO HERNÁNDEZ MADRID M.D. Ph.D. JOSÉ LUIS ZAMORANO GÓMEZ M.D. Ph.D. 《Pacing and clinical electrophysiology : PACE》2015,38(9):1058-1065
65.
Human platelet membrane glycoproteins IIb and IIIa (GPIIb and IIIa) were incorporated into phospholipid vesicles by the reverse-phase technique to assess the ability of GPIIb and IIIa to function as a Ca2+ channel. Movement of Ca2+ across the lipid bilayer was quantitated by injection of proteoliposomes with encapsulated Fura-2 into Ca2+ buffers and measurement of Fura-2 fluorescence as an indicator of Ca2+ influx. Reciprocally, to assess the function of proteins in an inside-out orientation, Ca2+-loaded vesicles were injected into Ca2+-free buffer and Ca2+ efflux monitored by a calcium electrode. Incorporation of the IIb-IIIa complex produced significant facilitation of Ca2+ movement across the lipid bilayer. No net transmembrane Ca2+ movement was seen with dissociated IIb and IIIa. Movement of Ca2+ was proportional to the transmembrane Ca2+ gradient. Ca2+ movement into the vesicles was inversely proportional to extravesicular NaCl from 25 to 150 mmol/L, analogous to several studies in the intact platelet. Adenosine triphosphate had no effect on Ca2+ movement into or out of the vesicles. Specific inhibition of a Ca2+ shift into the vesicles was seen with M148, a monoclonal antibody to IIb/IIIa, while no inhibition was observed with a panel of other anti-IIb/IIIa monoclonal antibodies. This suggests that a specific site on the complex or orientation of the complex is essential for calcium channel function. These data demonstrate that the GPIIb/IIIa complex can serve as a passive Ca2+ channel across a phospholipid bilayer and has the potential to play a role in Ca2+ flux across the platelet plasma membrane. 相似文献
66.
目的 对比分析单纯后路内固定+一期经腰椎间孔病椎间病灶清除(TLIF)与经典的前后联合手术在布氏杆菌性脊柱炎患者中的临床疗效及安全性。 方法 对我院2015年1月至2017年12月收治的93例布病性脊柱炎患者的临床资料进行分析。按手术方式分为观察组(45例)和对照组(48例)。对两组患者的基础数据、临床指标、术前术后各项指标水平以及术后并发症、植骨治愈情况。 结果 观察组与对照组基础数据比较,差异无统计学意义(P>0.05)。观察组患者的手术时间、住院天数、术中出血量及术后下床时间均明显低于对照组(P<0.01)。两组患者术后3个月的ODI、VAS、CRP、ESR及Cobb角均明显低于术前(P<0.05);术后3个月,观察组患者的ODI、VAS、CRP、ESR及Cobb角均明显低于对照组(P<0.05)。观察组术后并发症发生率(4.4%)明显低于对照组(25.0%)(Χ2=7.674,P<0.01)。 结论 TLIF治疗布氏杆菌性脊柱炎患者的临床疗效突出,安全性较好,更有利于患者术后身体的恢复。 相似文献
67.
Kaya H Peressini B Jawed I Martincic D Elaimy AL Lamoreaux WT Fairbanks RK Weeks KA Lee CM 《International journal of hematology》2012,95(1):64-70
With the availability of novel agents, the overall survival (OS) in patients diagnosed with multiple myeloma (MM) has improved
over the last decade. Data on 40,294 MM patients in the years from 1973 to 2003 were obtained from the Surveillance, Epidemiology,
and End Results Program (SEER) of the US National Cancer Institute. Statistical analyses evaluating gender, race, age, and
year of diagnosis were performed using univariate and multivariate Cox regression models for the OS endpoint. The mean patient
age at diagnosis was 68.3 years. Mean survival was 30 months (median = 19 months). Asian/Pacific Islander race was associated
with an improved OS, HR 0.90 (CI 0.86–0.95, P < 0.001). American Indian/Alaska Native race was associated with a decreased OS, HR 1.18 (CI 1.01–1.38, P = 0.040). Multivariate analysis did not reveal statistically significant differences in OS between patients in the white
and black race (P = 0.709). Younger age (age <65, and 65–75) was associated with improved OS when compared with patients >75 years of age (all
P < 0.001). Recent treatment decades (1983–1992 and 1993–2003) were associated with improved OS on multivariate analysis with
HR 0.88 (CI 0.88–0.89, P < 0.001) and HR 0.83 (CI 0.81–0.85, P < 0.001), respectively. As the largest population analysis to date, this study reveals a statistically significant improvement
in OS for patients who were treated in more recent decades, even before the availability of novel agents. Patients who were
<65 years of age and Asian/Pacific Islander race groups exhibited superior levels of OS, whereas American Indian/Alaska Native
groups had decreased OS. 相似文献
68.
MA Suckow SL Voytik-Harbin LA Terril SF Badylak 《Journal of investigative surgery》2013,26(5):277-287
Small instestinal submucosa (SIS) is an easily produced material that has been used experimentally for tissue engineering. To evaluate the ability of SIS to facilitate bone growth within a long-bone defect, a segment of the radius was surgically removed in adult, female Sprague-Dawley rats. The defect was either left unfilled or implanted with SIS, demineralized cortical bone (DMCB), or ovalbumin. The defect was evaluated radiographically and histologically after 3, 6, 12, and 24 weeks. Tissue remodeling within the defect was evident by week 3 in SIS- and DMCB-treated rats. Filling was characterized initially by infiltration of mononuclear cells and extracellular material in SIS-implanted rats and multifocal remodeling bone particles and cartilage formation in DMCB implanted rats. Cartilage was observed as early as 3 weeks and bone as early as 6 weeks in SIS-implanted rats. Filling of the defect arose from multiple foci in DMCB-implanted rats, but was contiguous with and parallel to the ulnar shaft in SIS-implanted rats, suggesting that defect repair by SIS may be conductive rather than inductive. Rats in which the defect was left unfilled demonstrated slow but progressive filling of the defect, characterized by mononuclear cell infiltrates and fibrous extracellular material. In summary, SIS facilitated rapid filling of a longbone defect. These results suggest that SIS may be useful as a bone repair material. 相似文献
69.
Simone M. De LA Rie Eric F. Van furth Annemieke De Koning Greta Noordenbos Marianne C. H. Donker 《Eating disorders》2013,21(4):345-351
Having a relative with an eating disorder (ED) affects the life of family caregivers and may thus affect their quality of life. To study this aspect, 40 caregivers of ED patients filled out a health-related quality of life questionnaire (Short Form-36) and a questionnaire on the impact of the ED on various areas of life domains, and on the relationship with the ED patient and the need for professional support. Quality of life of caregivers was worse than in a normal reference group. Specifically, mental health, vitality and emotional role functioning were reported to be most impaired. ED appeared to affect families’ lives substantially. In response to the ED, caregivers felt anxious, powerless, sad, or desperate. The relationship of the caregiver with the ED patient had also changed. Caregivers were more worried, lost their trust, and reported more conflicts. Seventy five percent welcomed professional support. Caregivers need practical advice, information on ED, and emotional support. Quality of life of caregivers should be addressed in the treatment of ED. 相似文献
70.
Paul Cumming Guoming Xiong Christian LA Fougère Axel Rominger Peter Bartenstein Hans‐Georg Buchholz Markus Piel Frank Rösch Gerhard Gründer Ingo Vernaleken 《Synapse (New York, N.Y.)》2013,67(4):199-203
Positron emission tomography (PET) with the high affinity dopamine D2/3 receptor ligand [18F]‐fallypride affords estimates of the binding potential (BPND) in extra‐striatal regions of low receptor abundance, but the sufficient recording time for accurate measurements in striatum has been called into question. We have earlier argued that transient equilibrium measurements are obtained in striatum with [18F]‐fallypride PET recordings of 3 h duration, which may be the practical limit for clinical investigations without interrupted scanning. However, the high extraction fraction of [18F]‐fallypride predicts flow‐dependence of tracer delivery to brain, which may be a source of variance of the apparent BPND in regions of high binding. To test this prediction, we conducted a retrospective analysis of [18F]‐fallypride PET data from a group of 50 healthy volunteers (age 18–58 years [mean ± SD: 32.6 ± 10.6), who had participated in clinical studies without arterial input measurements. We used the initial 120‐s integral (AUC) of the venous confluence (VC) as a surrogate marker for cerebral blood flow (CBF) and tested for correlations between regional estimates of BPND calculated by the simplified reference tissue model (SRTM) and the individual VC‐AUC. The magnitude of BPND in a high binding region (putamen), but not in a low binding region (thalamus) correlated positively with VC‐AUC, suggesting that approximately 9% of the variance in the [18F]‐fallypride BPND in putamen can be attributed to individual differences in this surrogate marker for CBF, a contribution equal in magnitude to the effects of age on BPND in putamen of the present healthy control group. Synapse, 2013. © 2012 Wiley Periodicals, Inc. 相似文献