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排序方式: 共有196条查询结果,搜索用时 31 毫秒
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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
13.
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
14.
We report 8 infants with immediate hypersensitivity reactions to foods (milk, egg, or peanut), occurring at the first-known exposure. Each developed symptoms within the first hour, but these generally settled within 2 hours. Sensitisation to the food concerned was demonstrated by positive immediate allergen skin prick tests in every case. Symptoms experienced included irritability, erythematous rash, urticaria, angio-oedema, vomiting, rhinorrhoea, and cough. Five infants were being followed prospectively and 4 were clinically tolerant of the food by age 16 months. The most likely route of sensitisation was via breast milk. None of the infants experienced similar reactions while being breast fed, suggesting that the reaction was dose dependent. As 5 out of a group of 80 infants being followed prospectively developed an immediate reaction at their first known exposure to a food, this appeared to be a not uncommon presentation of food hypersensitivity in infancy. 相似文献
15.
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16.
IRA Goldsmith FRCS GYH Lip MD MRCP PP Kumar FRCS RL Patel MD FRCS CTh 《International journal of clinical practice》1999,53(1):9-14
To survey the in-hospital morbidity, mortality, length of stay in the intensive therapy unit (ITU) and hospital and quality of life in patients of Indo-Asian origin following coronary artery bypass (CABG) surgery, 345 consecutive patients (mean age 58 years; SD 8.9; range 32-88 years) undergoing primary, isolated CABG were studied. Non-elective CABG was undertaken in 41% of patients. The left anterior descending artery (LAD) was grafted in 89%, although in 30% of these the internal mammary artery (IMA) was not used. Following CABG, the hospital morbidity and mortality was within the expected range, although there was a trend towards higher in-hospital mortality in the Parsonnet low risk group of patients. The length of ITU and hospital stay was not prolonged. Using the SF-36 questionnaire in postoperative patients, low quality of life scores were obtained for six of the eight modalities tested including physical functioning, bodily pain and general health perception. The low quality of life scores and IMA usage in Indo-Asians needs to be addressed. 相似文献
17.
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
18.
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
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20.
Rajiv Saini PP Marawar Sujata Shete Santosh Saini Ameet Mani 《Indian Journal of Palliative Care》2009,15(1):26-29
World Health Organization defines palliative care as the active total care of patients whose disease is not responding to curative treatment. Palliative care for the terminally ill is based on a multidimensional approach to provide whole-person comfort care while maintaining optimal function; dental care plays an important role in this multidisciplinary approach. The aim of the present study is to review significance of dentist''s role to determine whether mouth care was effectively assessed and implemented in the palliative care setting. The oral problems experienced by the hospice head and neck patient clearly affect the quality of his or her remaining life. Dentist plays an essential role in palliative care by the maintenance of oral hygiene; dental examination may identify and cure opportunistic infections and dental disease like caries, periodontal disease, oral mucosal problems or prosthetic requirement. Oral care may reduce not only the microbial load of the mouth but the risk for pain and oral infection as well. This multidisciplinary approach to palliative care, including a dentist, may reduce the oral debilities that influence the patient''s ability to speak, eat or swallow. This review highlighted that without effective assessment of the mouth, the appropriate implementation of care will not be delivered. Palliative dental care has been fundamental in management of patients with active, progressive, far-advanced disease in which the oral cavity has been compromised either by the disease directly or by its treatment; the focus of care is quality of life. 相似文献