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排序方式: 共有609条查询结果,搜索用时 15 毫秒
1.
Daniela Concolino Simona Sestito Francesca Falvo Giusy Romano Miriam Ceravolo Elisa Anastasio Licia Pensabene Elisa A. Colombo Lidia Larizza 《European journal of medical genetics》2019,62(1):73-76
Clericuzio-type poikiloderma with neutropenia is a well-defined nosological entity, but despite a remarkable number of clinical reports, no long term follow-up data has been presented to date regarding patients with this rare condition.Here we describe the results of clinical follow-up of three siblings, one male (Patient 1) and two females (Patients 2 and 3), subsequent to their first clinical and then molecular diagnosis of Clericuzio-type poikiloderma with neutropenia syndrome due to mutation of USB1gene. Patient 1 always expressed the most severe phenotype, while patients 2 and 3 showed an intermediate and mild phenotype, respectively, as observed since their first clinical evaluation. None of the patients developed skin cancer and/or myelodysplastic disorders considering the peripheral haematological findings. Lens opacity, never reported before, was found in two of the three patients.The long term follow-up observations confirm the stability over time of the pronounced intra-familial heterogeneity of clinical manifestations observed prior to and upon molecular diagnosis. We conclude that prolonged follow-up is an adjunct tool to monitor intra-familial variability of PN clinical spectrum which may favour surveillance of more serious complications of the disease among siblings, when a patient-specific clinical expressivity is present. 相似文献
2.
Comparison of LCx with other current viral load assays for detecting and quantifying human immunodeficiency virus type 1 RNA in patients infected with the circulating recombinant form A/G (CRF02) 下载免费PDF全文
Amendola A Bordi L Angeletti C Girardi E Ippolito G Capobianchi MR 《Journal of clinical microbiology》2004,42(2):811-815
LCx was compared to other assays in measuring human immunodeficiency virus type 1 (HIV-1) CRF02 viremia. LCx showed significant but low correlation with the other methods. Values of <2.60 log(10) cp/ml were observed in 29.6% of specimens with LCx and in only 14.8% with bDNA and PCR, suggesting suboptimal performance of LCx with CRF02. 相似文献
3.
Chronic lymphocytic leukemia B cells are endowed with the capacity to attract CD4+, CD40L+ T cells by producing CCL22 总被引:6,自引:0,他引:6
4.
Braga M Baccari P Cristallo M Staudacher C Ferrari G Scaccabarozzi S DiPalo S DiCarlo V 《Clinical nutrition (Edinburgh, Scotland)》1984,3(4):231-235
Between June 1981 and June 1983 the delayed hypersensitivity response (DHR) was studied in 401 patients considered for major surgical procedure: 320 of these patients underwent surgery. The incidence of sepsis and postoperative mortality was higher in anergic and relative anergic patients than in normal responders (p<0.001). To evaluate whether DHR depression in cancer patients was due to the direct effect of cancer or to tumour-linked malnutrition, the 401 patients were divided into 4 groups: 1) 140 malnourished cancer patients, 2) 51 malnourished non-cancer patients, 3) 120 well-nourished cancer patients and 4) 90 well-nourished non-cancer patients. The mean age was not significantly different for the 4 groups. The results showed a relationship between DHR and nutritional status (p<0.001). The tumour-related DHR impairment disappeared when the cancer and non-cancer patient groups were homogeneous with regard to their nutritional status. Therefore, the tumour was able to determine the DHR depression because of the cancer-linked malnutrition. We did not observe any relationship between local extension of the tumour and lymph node involvement and DHR depression. In 90 well-nourished non-cancer patients the relation between DHR and age was investigated. The incidence of anergy and relative anergy was higher in patients over 59 years than in patients under 60 years (p<0.001). 相似文献
5.
Licia Iaccarino Tiziana Ottone Valentina Alfonso Laura Cicconi Mariadomenica Divona Serena Lavorgna Serena Travaglini Aleandra Ferrantini Giulia Falconi Constance Baer Monica Usai Fabio Forghieri Adriano Venditti Maria Ilaria Del Principe William Arcese Maria Teresa Voso Torsten Haferlach Francesco Lo-Coco 《American journal of hematology》2019,94(10):1091-1097
Despite the high probability of cure of patients with acute promyelocytic leukemia (APL), mechanisms of relapse are still largely unclear. Mutational profiling at diagnosis and/or relapse may help to identify APL patients needing frequent molecular monitoring and early treatment intervention. Using an NGS approach including a 31 myeloid gene-panel, we tested BM samples of 44 APLs at the time of diagnosis, and of 31 at relapse. Mutations in PML and RARA genes were studied using a customized-NGS-RNA panel. Patients relapsing after ATRA-chemotherapy rarely had additional mutations (P = .009). In patients relapsing after ATRA/ATO, the PML gene was a preferential mutation target. We then evaluated the predictive value of mutations at APL diagnosis. A median of two mutations was detectable in 9/11 patients who later relapsed, vs one mutation in 21/33 patients who remained in CCR (P = .0032). This corresponded to a significantly lower risk of relapse in patients with one or less mutations (HR 0.046; 95% CI 0.011-0.197; P < .0001). NGS-analysis at the time of APL diagnosis may inform treatment decisions, including alternative treatments for cases with an unfavorable mutation profile. 相似文献
6.
Tumour necrosis factor alpha upregulates platelet CD40L in patients with heart failure 总被引:1,自引:0,他引:1
Pignatelli P Cangemi R Celestini A Carnevale R Polimeni L Martini A Ferro D Loffredo L Violi F 《Cardiovascular research》2008,78(3):515-522
AIMS: Patients with heart failure (HF) have elevated values of the pro-inflammatory protein CD40L but the underlying mechanism is unclear. This study was performed to evaluate the interplay between tumour necrosis factor alpha (TNFalpha) and CD40L in HF. METHODS AND RESULTS: In patients with HF (n=86) and healthy subjects (HS, n=43), plasma levels of soluble CD40L (sCD40L), TNFalpha, soluble receptors of TNFalpha such as soluble TNF receptors I and II (sTNFR1 and sTNFR2), and 8OH-dG, a marker of oxidative stress, were determined. Also, an in vitro study was performed by determining platelet CD40L regulation upon platelet stimulation with TNFalpha. Compared with HS, HF patients had higher plasma values of sCD40L, TNFalpha, sTNFR1 and sTNFR2, and higher platelet expression of TNFR1 and TNFR2 with a progressive increase from NYHA I to NYHA IV classification. sCD40L significantly correlated with TNFalpha, sTNFR1, and sTNFR2; plasma levels of TNFalpha significantly correlated with sCD40L. Incubation of platelets from HF patients with a TNFalpha receptor inhibitor significantly decreased platelet CD40L expression. The in vitro study demonstrated that TNFalpha significantly increased CD40L expression, an effect weakly influenced by aspirin but significantly reduced by AACOCF3, an inhibitor of PLA(2), apocynin, an inhibitor of NADPH oxidase, or staurosporine, an inhibitor of PKC. CONCLUSION: The study shows that in HF patients, platelet CD40L is upregulated by TNFalpha via a cyclooxygenase-1-independent, arachidonic acid-mediated oxidative stress mechanism. 相似文献
7.
Alberto Berardi Claudio Gallo Licia Lugli Isotta Guidotti Giancarlo Gargano Livia Maccio 《The journal of maternal-fetal & neonatal medicine》2015,28(14):1694-1696
Neonatal Herpes simplex virus (HSV) pneumonia without apparent accompanying disseminated infection is a rare condition. We describe a case of neonatal pneumonia following maternal HSV type 1 viraemia in late pregnancy. A review of the literature shows that cases of HSV presenting as pneumonia in the first week of life are the most severe form of neonatal HSV. 相似文献
8.
Purpose of Review
In this short review, the most common non-invasive neuromodulatory techniques will be described, along with their advantages and disadvantages and their application in headache. Available preventive treatments can be unhelpful or may have unpleasant side effects; moreover, the rate of response to preventive drugs does not exceed 50%, lower in chronic migraine; alternative options would be welcome. Though the concept of neuromodulation was originally developed with invasive methods, newer non-invasive techniques are appearing.Recent Findings
The novel neuromodulatory techniques have been developed with encouraging results: compared with traditional pharmacotherapy, advantages of non-invasive neuromodulation include reduced incidence of adverse effects, improved adherence, and safety and ease of use. The results are encouraging for acute or preventive treatment of different kinds of headache.Summary
A variety of neuromodulatory approaches is expanding fastly and has opened new possibilities for treatment of patients suffering from many forms of headache, especially those who have failed traditional pharmacotherapy. The non-invasive treatments can be seen as supplementing traditional management in refractory patients. Current study results are encouraging but preliminary and larger and more rigorous trials are needed to clarify benefit and mode of action.9.
Long‐term follow‐up of Chagas heart disease patients receiving an implantable cardioverter‐defibrillator for secondary prevention 下载免费PDF全文
10.
Chiappini B Minuti U Gregorini R Petrella L De Remigis F Giancola R Villani C Mazzola A 《The Journal of heart valve disease》2008,17(4):396-401
BACKGROUND AND AIM OF THE STUDY: Clinical and echocardiographic results were investigated to evaluate mitral valve repair in patients undergoing coronary artery bypass grafting (CABG) for ischemic cardiomyopathy (ICM) with moderately severe mitral regurgitation (MR). METHODS: A total of 78 patients (21 women, 57 men; mean age 69.5 +/- 7.8 years) with ischemic mitral regurgitation underwent mitral valve repair and CABG. The mean left ventricular ejection fraction (LVEF) was 42.4 +/- 12.4%. Among the patients, 19 (24.4%) had preoperative congestive heart failure (CHF). This surgery constituted a second such operation in five patients (6.4%). The MR was grade 3+ in 28 patients (35.9%) and 4+ in 50 (64.1%). The mean number of grafts was 3.6 per patient. RESULTS: Hospital mortality was 11.5% (n = 9). Risk factors for early mortality were preoperative NYHA class > or = III (p = 0.014), preoperative heart failure (p <0.001) and reoperation (p = 0.002). The five-year survival was 82.6 +/- 5.9%, and freedom from grade > or =2+ MR was 93.1 +/- 4.1%. Postoperatively, 66 patients (89.6%) were in NYHA class I and seven (9.4%) in class II, demonstrating a statistically significant improvement (p = 0.03). Late echocardiography showed a significant improvement in LVEF (from 42.4 +/- 12.4% to 51.7 +/- 10.9%; p = 0.01) and a reduction in pulmonary artery pressure (from 37.6 +/- 11.9 mmHg to 29.3 +/- 7.4 mmHg; p = 0.004). CONCLUSION: It is concluded that in patients with ICM, mitral valve repair combined with CABG provides a dramatic improvement in ejection fraction and in CHF, with excellent long-term survival, even in patients with a low LVEF. 相似文献