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排序方式: 共有532条查询结果,搜索用时 15 毫秒
1.
Potential of a Simplified p24 Assay for Early Diagnosis of Infant Human Immunodeficiency Virus Type 1 Infection in Haiti
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Hunnangkul S Nitsch D Rhodes B Chadha S Roberton CA Pessôa-Lopes P Norsworthy PJ Fernando MM Charles P Mackworth-Young C Isenberg DA Whittaker JC Vyse TJ 《Arthritis and rheumatism》2008,58(4):1116-1124
OBJECTIVE: To determine whether key features of systemic lupus erythematosus (SLE), namely, production of non-nuclear antibodies (anti-C1q and anticardiolipin antibodies [aCL]) and depletion of complement components C3 and C4, aggregate in families. In addition, we examined relationships between anti-C1q and C3 and C4 levels. METHODS: The study cohort comprised 1,037 predominantly white (82%) nuclear families in which at least 1 member had SLE. Associations of antibody measurements between probands and their unaffected siblings were examined using parametric and nonparametric analyses, along with associations between unaffected siblings and their parents. The heritability of anti-C1q, C3, and C4 was estimated, and interdependencies between these factors were examined in a regression model accounting for the family structure of the data set. RESULTS: We demonstrated associations between siblings for anti-C1q (odds ratio [OR] 3.74, 95% confidence interval [95% CI] 2.65, 5.28) and IgG and IgM aCL (OR 4.08, 95% CI 1.83, 5.13 and OR 2.06, 95% CI 1.46, 2.91, respectively) and, for anti-C1q, association between unaffected parents and their unaffected offspring (OR 4.34, 95% CI 2.16, 8.72). We also demonstrated significant heritability of anti-C1q, C3, and C4 (approximately 45%). Anti-C1q was negatively associated with C3 and C4 in SLE probands but not in their healthy relatives. CONCLUSION: Non-nuclear antibodies and C3 and C4 cluster within the families of SLE probands, suggesting that specific autoantibody formation is partly genetically determined, even if the total genetic effect in unaffected relatives is insufficient to cause disease. Anti-C1q antibodies accelerate C3 and C4 depletion in patients with SLE but have no effect in the absence of disease. 相似文献
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Won-Seok Jo Prathap Bandipalliam Kristen M Shannon Kristin B Niendorf Gayun Chan-Smutko Chin Hur Sapna Syngal Daniel C Chung 《Clinical gastroenterology and hepatology》2005,3(10):1022-1028
BACKGROUND & AIMS: Affected individuals with biallelic MYH mutations are believed to display multiple adenomatous polyps without evidence of vertical transmission. Our goal was to determine the detection rate of germline MYH mutations in a high-risk gastrointestinal cancer clinic population by using polyp number as a selection criterion. METHODS: Patients were screened for the 2 most common MYH mutations: Y165C and G382D. The complete MYH coding region was sequenced in cases with a heterozygous mutation. RESULTS: Among 45 patients with more than 15 adenomatous polyps not diagnosed with familial adenomatous polyposis, 7 (15.6%) had biallelic MYH mutations. When 122 participants from a high-risk gastrointestinal cancer clinic who did not fulfill these criteria were tested, 2 additional patients with biallelic mutations were identified. Both had young-onset colorectal cancer (age, <50 y) with fewer than 15 polyps. Surprisingly, most of the 9 patients with biallelic MYH mutations reported family histories consistent with the hereditary nonpolyposis colorectal cancer syndrome (HNPCC), with 7 cases meeting at least 1 of the Bethesda criteria, 5 cases fulfilling 3 Bethesda criteria, and 2 cases fulfilling the Amsterdam II criteria. CONCLUSIONS: Most individuals with MYH mutations exhibit multiple adenomatous polyps. However, 22% of cases were missed when this was the sole criterion for germline testing. A significant number reported a strong family history of cancer that was consistent with HNPCC. MYH testing thus can be considered for patients who meet clinical criteria for HNPCC in the absence of DNA mismatch repair gene mutations. 相似文献
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Stockwell DH Woo P Jacobson BC Remily R Syngal S Wolf J Farraye FA 《The American journal of gastroenterology》2003,98(8):1875-1880
OBJECTIVES: Women who participate in screening for breast cancer are more likely to participate in screening for colorectal cancer. We studied such a motivated group of women to identify predictors of, and barriers to, participation in colorectal cancer screening by endoscopy. METHODS: We distributed surveys to 551 women > or = 50 yr of age while they were awaiting mammography at four sites in and around Boston, MA from June to September, 2000. The 40-question survey assessed knowledge, attitudes, and beliefs about, and behaviors toward, breast and colorectal cancer screening. Regression models were used to determine factors associated with having had sigmoidoscopy or colonoscopy. RESULTS: Seventy-nine percent of the women completed all or part of the survey. Half (221/438) reported ever having had sigmoidoscopy or colonoscopy. Of these, 93% did so at the recommendation of their primary care provider. Factors associated with participation in endoscopic screening included compliance with annual fecal occult blood testing, a family history of colorectal cancer, and indifference toward the gender of the doctor performing the endoscopy. CONCLUSIONS: Women undergoing mammography overwhelmingly cite the recommendation of their primary care provider as the reason for participating in colorectal cancer screening by endoscopy. Women who preferred a female endoscopist were less likely to have been screened. Whenever possible, primary care providers should offer women the choice of a female endoscopist for colorectal cancer screening. 相似文献
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Sunanda Sharma Aditi Nanda Dheeraj Koli Sapna Daksh Mahesh Verma 《Indian Journal of Palliative Care》2014,20(2):146-152
Injury of the head and neck region can result in substantial morbidity. Comprehensive management of such patients requires team work of several specialties, including dentists. A young female patient with extensive loss of cranium and associated pathological chewing was referred to the dental department. The lost cranium was replaced by a custom-made, hand-fabricated cranioplast. Trauma due to pathological mastication was reduced by usage of a custom-made mouthguard. Favorable results were seen in the appearance of the patient and after insertion of the mouthguard as evidenced in good healing response. The intricate role of a dental specialist in the team to manage a patient with post traumatic head injury has been highlighted. The take away message is to make the surgical fraternity aware of the scope of dentistry in the comprehensive management of patients requiring special care. 相似文献
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Agarwal K Agarwal C Agarwal S Chaddha R 《Indian journal of pathology & microbiology》2007,50(2):405-407
Teratomas showing organoid development of intestine are rare. Such cases are mostly described in ovary and sacrococcygeal region. We describe the clinical, radiological and pathological findings of an unusual case of teratoma with colonic loops in a three months old child in retroperitoneal location. 相似文献