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991.
In vivo and in vitro ivacaftor response in cystic fibrosis patients with residual CFTR function: N‐of‐1 studies 下载免费PDF全文
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Diogo C. Soares Mariana N. Stroparo Yu C. Lian Cristina Y. Takakura Sabrina Wolf Regina Betz Chong A. Kim 《Journal of inherited metabolic disease》2017,40(3):461-462
Richner-Hanhart syndrome (RHS, tyrosinemia type II) is a rare, autosomal recessive inborn error of tyrosine metabolism caused by tyrosine aminotransferase deficiency. It is characterized by photophobia due to keratitis, painful palmoplantar hyperkeratosis, variable mental retardation, and elevated serum tyrosine levels. Patients are often misdiagnosed with herpes simplex keratitis. We report on a a boy from Brazil who presented with bilateral keratitis secondary to RHS, which had earlier been misdiagnosed as herpes simplex keratitis. 相似文献
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The impact of antibody profile in thrombosis associated with primary antiphospholipid syndrome 下载免费PDF全文
Sabrina da Silva Saraiva Bruna de Moraes Mazetto Lais Quinteiro Tobaldine Marina Pereira Colella Erich Vinícius De Paula Joyce Annichinno‐Bizzachi Fernanda Andrade Orsi 《American journal of hematology》2017,92(11):1163-1169
Triple positivity (TP) for antiphospholipid antibodies(aPL) may identify aPL carriers with poorer prognosis. The clinical impact of TP in primary antiphospholipid syndrome(PAPS) remains unclear and further clinical evidences are needed to validate TP as a marker of severity. The aim of this study was to evaluate the impact of TP on the clinical course of PAPS with thrombosis(t‐PAPS). We performed a retrospective analysis of a cohort of t‐PAPS patients, comparing groups of patients with TP and non‐TP profiles according to their demographic, clinical and laboratory features. We included 105 patients with t‐PAPS, the median follow‐up time of 3.7 years. Twenty‐two patients(21%) had TP; the demographic distribution, the presence of cardiovascular risk factors and the site of thrombosis were similar between TP and non‐TP patients. The frequency of thrombotic events did not differ between TP and non‐TP patients during the study period. Pregnancy morbidities were more frequent in women with t‐PAPS and TP than in those with non‐TP profile (80% vs. 52.8%, P = 0.05). Patients with t‐PAPS and TP presented, at diagnosis, higher dRVVT ratio (median R = 2.44 vs. 1.57, P < 0.0001), higher aCL titer (median = 50UI vs. 35 UI, P < 0.0001), lower C3 levels (median = 1.08 vs. 1.30 mg dL?1, P = 0.001), lower C4 levels (median = 0.22 vs. 0.25 mg dL?1, P = 0.05) and higher frequency of positive ANA test (50% vs. 20%, P = 0.008) than patients with t‐PAPS and non‐TP. Lower‐than‐normal levels of C3 was independently associated with TP (OR = 5.1, P = 0.02). The presence of TP in patients with t‐PAPS was associated with immune derangement, with no effect on the clinical course of the disease. 相似文献
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Leslie R. Harrold Heather J. Litman Sean E. Connolly Sheila Kelly Winnie Hua Evo Alemao Lisa Rosenblatt Sabrina Rebello Joel M. Kremer 《Clinical rheumatology》2017,36(6):1215-1220
The objective of the study was to examine whether disease duration independently predicts treatment response among biologic-naïve patients with rheumatoid arthritis (RA) initiating abatacept in clinical practice. Using the Corrona RA registry (February 2006–January 2015), biologic-naïve patients with RA initiating abatacept with 12-month (±3 months) follow-up and assessment of disease activity (Clinical Disease Activity Index [CDAI]) at initiation and at 12 months were identified. The primary outcome was mean change in CDAI (ΔCDAI) from baseline to 12 months. Secondary outcomes at 12 months included achievement of low disease activity (LDA; CDAI ≤10 in patients with moderate/high disease activity at initiation) and remission (CDAI ≤2.8 in patients with low, moderate or high disease activity at initiation). Linear and logistic regression analyses were performed to examine the relationship between disease duration and response to abatacept. There were 281 biologic-naïve patients with RA initiating abatacept (disease duration 0–2 years, n = 107; 3–5 years, n = 45; 6–10 years, n = 50; >10 years, n = 79). Increased disease duration was associated with older age (p = 0.047), and the median number of prior conventional disease-modifying antirheumatic drugs used was lowest in the 0- to 2-year duration group (p < 0.001). Mean ΔCDAI (SE) ranged from ?10.22 (1.19) for 0–2 years to ?4.63 (1.38) for >10 years. In adjusted analyses, shorter disease duration was significantly associated with greater mean ΔCDAI (p = 0.015) and greater likelihood of achieving LDA (p = 0.048). In biologic-naïve patients with RA initiating abatacept, earlier disease (shorter disease duration) was associated with greater ΔCDAI and likelihood of achieving LDA. 相似文献
996.
Infections with multiple high‐risk HPV types are associated with high‐grade and persistent low‐grade intraepithelial lesions of the cervix 下载免费PDF全文
997.
Sabrina?Kindem Joan?Garcías-Ladaria Celia?Requena Carlos?Guillén Vicente?Oliver Eduardo?NagoreEmail author 《European journal of dermatology : EJD》2015,25(3):247-254
Background
Among melanoma patients,women have a better prognosis than men but the differences might be due to a different presentation of melanoma.Objectives
The aim of this study was to identify differences in clinical presentation and survival in cutaneous melanoma between men and women in a Spanish population stratified by age.Materials & Methods
In total, 1,607 consecutive patients with localized cutaneous melanoma and complete clinical and pathological information were evaluated. Average follow-upwas 5 years. Patients were stratified by age into three groups: ≤45 years, 46-60 years, and >60 years. Disease-free survival, overall-survival and disease-specific survival were generated using the Kaplan-Meier method. Multivariate survival analyses were evaluated using Cox modelling.Results
Melanoma presented more frequently in the trunk in male patients and in the lower extremities and acral location in female patients. Men presented thicker tumors than women. However, for histological type, mitotic rate and ulceration there were no significant differences between the sexes. In the univariate survival analyses, women showed better disease-free, overall and disease-specific survival in the younger age group, compared with males of the same group. After adjusting for anatomical site, Breslow thickness, mitotic rate and presence of ulceration, there were no differences between males and females in any of the three age groups.Conclusion
The superior survival for women over men did not persist after adjusting for multiple prognostic variables such as anatomical site, Breslow thickness, mitotic rate and ulceration.998.
Pier Paolo Mainenti Federica Romano Laura Pizzuti Sabrina Segreto Giovanni Storto Lorenzo Mannelli Massimo Imbriaco Luigi Camera Simone Maurea 《World journal of radiology》2015,7(7):157-169
Colorectal cancer is one of the few malignant tumors in which synchronous or metachronous liver metastases [colorectal liver metastases (CRLMs)] may be treated with surgery. It has been demonstrated that resection of CRLMs improves the long-term prognosis. On the other hand, patients with un-resectable CRLMs may benefit from chemotherapy alone or in addition to liver-directed therapies. The choice of the most appropriate therapeutic management of CRLMs depends mostly on the diagnostic imaging. Nowadays, multiple non-invasive imaging modalities are available and those have a pivotal role in the workup of patients with CRLMs. Although extensive research has been performed with regards to the diagnostic performance of ultrasonography, computed tomography, positron emission tomography and magnetic resonance for the detection of CRLMs, the optimal imaging strategies for staging and follow up are still to be established. This largely due to the progressive technological and pharmacological advances which are constantly improving the accuracy of each imaging modality. This review describes the non-invasive imaging approaches of CRLMs reporting the technical features, the clinical indications, the advantages and the potential limitations of each modality, as well as including some information on the development of new imaging modalities, the role of new contrast media and the feasibility of using parametric image analysis as diagnostic marker of presence of CRLMs. 相似文献
999.
Annabel Sandra Mueller-Stierlin Scott B. Teasdale Uemmueguelsuem Dinc Sabrina Moerkl Nicole Prinz Thomas Becker Reinhold Kilian 《Nutrients》2021,13(8)
People with serious mental illness (SMI) experience challenges that may make typical dietary assessment methods less feasible and accurate. This study aims to determine the feasibility, acceptability and preliminary validity of a 3-day photographic food record (PR), a 1-day food diary (FD) and a 1-day weighed food protocol (WR) in people with SMI. Participants completed measures at two timepoints, with a 4-week interval. Feasibility and acceptability for each method were measured through four outcomes: percent of completers, quality assessment, number of participants requiring technical devices and satisfaction questionnaire. Relative validity was measured by agreement in estimated energy intake between methods, using Bland–Altman analysis and WR as the benchmark, and prevalence of misreporting, using the Goldberg cut-off method, updated by Black. In total, 63 participants were recruited, with a dropout rate of 19.0% prior to timepoint 1 and additional 6.4% prior to timepoint 2. Quality deficits were identified for all methods. The FD was most acceptable to participants, followed by the PR. The difference in estimated energy intake between assessment methods was not statistically significant, though there was considerable individual variability. Underreporting was considerable across all methods but appeared highest in the PR. A FD and PR present as feasible and acceptable methods for assessing dietary intake in people with SMI. Further validity testing is required. In addition, clear guidance for completion and removal of potential barriers is required for participants. 相似文献
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