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11.
12.
Pier Paolo Bassareo Tammam Hasan Marco Bonvicini Giuseppe Mercuro 《Clinical Case Reports》2015,3(4):271-273
The Authors present the case of an asymptomatic 36‐year‐old man, affected by Down syndrome, with an unexpected quadricuspid aortic valve coupled with the anomalous origin of the left circumflex coronary artery from the proximal right coronary artery. This is the first report of the concomitant presence of these three conditions. 相似文献
13.
Vincent JJ Odekerken Teus van Laar Michiel J Staal Arne Mosch Carel FE Hoffmann Peter CG Nijssen Guus N Beute Jeroen PP van Vugt Mathieu WPM Lenders M Fiorella Contarino Marieke SJ Mink Lo J Bour Pepijn van den Munckhof Ben A Schmand Rob J de Haan P Richard Schuurman Rob MA de Bie 《Lancet neurology》2013,12(1):37-44
14.
Arruda VR; Pieneman WC; Reitsma PH; Deutz-Terlouw PP; Annichino-Bizzacchi JM; Briet E; Costa FF 《Blood》1995,86(8):3015-3020
The molecular characterization of the mutations in hemophilia A patients is hampered by the large size of the factor VIII gene and the great heterogeneity of mutations. In this study, we have performed a protocol involving multiplex polymerase chain reaction in which 19 exons were amplified in four different combinations followed by nonradioactive single-strand conformational polymorphism (SSCP) to screen for mutations. Southern blotting was used to detect inversion of the factor VIII gene resulting from recombination between copies of the gene A (F8A) located in intron 22 of the factor VIII gene and two copies close telomeric region of X chromosome. Forty-two hemophilia A patients (21 with severe and 21 with mild-to-moderate disease) were studied. The inversion of factor VIII occurred in 13 of 21 patients affected by severe hemophilia A. One patient showed a large extra band in addition to the three bands observed after Southern blotting with the F8A probe. An abnormal electrophoretic pattern of SSCP was detected in 85% and 50% of the patients affected by mild-to-moderate and severe disease, respectively. Sixteen different mutations were identified. Eleven mutations were novel and comprised 9 point mutations and 2 small deletions. This study shows that the methodology used is safe and rapid and has potential for detecting almost all of the genetic defects of the studied hemophilia A patients. 相似文献
15.
Pier Paolo Bassareo Vassilios Fanos Antonio Crisafulli Giuseppe Mercuro 《Clinics (S?o Paulo, Brazil)》2014,69(4):219-224
OBJECTIVES:
Cigarette smoking is an important modifiable cardiovascular risk factor associated with increased stiffness of the large arteries in adulthood. This study aimed to 1) evaluate arterial distensibility and echocardiographic measures in adolescent smokers before and after participation in a successful smoking cessation program and to 2) compare the findings obtained with data from a control population of healthy non-smokers.METHODS:
A total of 31 young smoking subjects (58.1% male; range: 11-18 years old; mean: 16.5±1.4 years old; mean tobacco consumption: 2.6±0.6 years) were examined before commencing and after taking part for at least 1 year in a smoking cessation program (mean: 1.4±0.3 years). Arterial stiffness was measured using the previously validated QKd100-60 method. Twenty-four-hour ambulatory blood pressure monitoring and transthoracic echocardiography were also performed.RESULTS:
(Smokers before abuse cessation vs. smokers after abuse cessation) systolic blood pressure: p<0.004; diastolic blood pressure: p<0.02; mean blood pressure: p<0.01; QKd100-60 value: 183±5 vs. 196±3 msec, p<0.009; p = ns for all echocardiographic parameters. (Smokers after abuse cessation vs. controls) systolic blood pressure: p<0.01; diastolic blood pressure: p<0.03; mean blood pressure: p<0.02; QKd100-60 value: 196±3 vs. 203±2 msec, p<0.04; p<0.02, p<0.01, and p<0.05 for the interventricular septum, posterior wall, and left ventricular mass, respectively.CONCLUSIONS:
Despite successful participation in a smoking cessation program, arterial distensibility improved but did not normalize. This finding underlines the presence of the harmful effect of arterial rigidity in these individuals, despite their having quit smoking and their young ages, thus resulting in the subsequent need for a lengthy follow-up period. 相似文献16.
17.
Valentina Bassareo Gianluigi Tanda Paola Petromilli Corrado Giua Gaetano Di Chiara 《Psychopharmacology》1996,127(1-2):289-290
18.
GS Chopra PK Gupta AC Anand PP Varma V Nair Ramji Rai 《Medical Journal Armed Forces India》2005,61(3):234-237
Background
HBV DNA quantitation is used extensively world wide for the diagnosis and monitoring of treatment of Hepatitis B virus (HBV) infection. However, it has still to be popular in India. The aim of this study was to quantitate HBV – DNA by Real time – PCR method in Hepatitis B and in immuno-compromised patients, to compare the results with HBeAg detection and to monitor the response to therapy of chronic Hepatitis B patients to antivirals.Methods
Ninety one serum samples of Hepatitis group of patients (all HBsAg positive), 41 samples from immuno-compromised patients (all HBsAg negative) and 49 patients of Chronic Hepatitis B group (all HBsAg positive) were the subjects of this first ever study in Armed Forces. Twenty serum samples from healthy volunteers and non-hepatitis B patients served as negative controls. The amplification detection was carried out in a Rotor-Gene 2000-sequence detectorResults
Amongst Hepatitis B group, 33% (30/91) of the samples were positive for HBV-DNA and 26% (24/91) of samples were positive for HBeAg. In the immuno-compromised group of patients 14.6% (6/11) of samples were positive for HIV-DNA and 9.7% (4/41) were positive for HBeAg. Of the Chronic Hepatitis B patients on treatment, all (100%) were positive by HBV-DNA, whereas 29/49 (59.2%) were positive by HBeAg before treatment. After treatment with antivirals, 06/49 (12.2%) were positive by both tests and 11/49 (22.5%) were positive only by HBV-DNA. 32/49 (65.3%) patients became negative serologically after therapy.Conclusion
HBeAg status did not necessarily reflect HBV-DNA level in the serum, as 10/91 (11%) in the Hepatitis B group, 2/41 (4.9%) in the immuno compromised group and 20/49 (40.8%) patients in the Chronic Hepatitis B group were positive for HBV-DNA but negative for HBeAg. HBV-DNA was not found to be positive amongst any of the negative controls. Real time – PCR is a sensitive and reproducible assay for HBV-DNA quantitation and may be started in Armed Forces referral centers in the near future.Key Words: Real time – PCR, Chronic Hepatitis B, HBV – DNA, Antivirals 相似文献19.
抗凝血相关因子抗体检测方法的建立及临床应用 总被引:1,自引:0,他引:1
目的抗磷脂抗体综合征(APS)患者血清中是否存在识别纤溶酶、凝血酶和活性蛋白C(APC)的抗磷脂抗体(aPL)。方法分别用凝血酶、纤溶酶和APC包被酶标板,建立抗纤溶酶、抗凝血酶和抗APC抗体的检测方法。结果在40例APS患者和40名正常对照的血清中,前者抗纤溶酶抗体阳性率为42.5%(17/40),抗凝血酶抗体阳性率为35%(14/40),对照组则两者均为阴性,差异有显著性(P<0.01)。但两组样本抗APC抗体检测结果的A值经检验差异无显著性(P>0.05)。结论APS患者的血清中可检测出抗纤溶酶、抗凝血酶和抗APC抗体,其临床意义有待进一步研究。 相似文献
20.
RH Wilson MB FRCS PP Kerr MB MRCP J McLoughlin MD FRCP M Gormley MD MRCP 《International journal of clinical practice》1993,47(6):315-318
SUMMARY Wegener's granulomatosis is a multisystem disorder which rarely presents with gastrointestinal involvement. We report a case in which colitis was the reason for hospital admission. Diagnosis may be difficult unless clinical, serological and histopathological features are all considered. 相似文献