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11.
DZ Loesch F Tassone J Lo HR Slater LV Hills MQ Bui PA Silburn GD Mellick 《Clinical genetics》2013,84(4):382-385
We recently reported a significant increase in the frequency of carriers of grey zone (GZ) alleles of FMR1 gene in Australian males with Parkinson's disease (PD) from Victoria and Tasmania. Here, we report data comparing an independent sample of 817 PD patients from Queensland to 1078 consecutive Australian male newborns from Victoria. We confirmed the earlier finding by observing a significant excess of GZ alleles in PD (4.8%) compared to controls (1.5%). Although both studies provided evidence in support of an association between GZ‐carrier status and increased risk for parkinsonism, the existing evidence in the literature from screening studies remains equivocal and we discuss the need for alternative approaches to resolve the issue. 相似文献
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Aimo Alberto Valleggi Alessandro Barison Andrea Salerni Sara Emdin Michele Aquaro Giovanni Donato 《The international journal of cardiovascular imaging》2021,37(7):2245-2255
The International Journal of Cardiovascular Imaging - Patients with non-ischaemic systolic heart failure (HF) and left bundle branch block (LBBB) can display a wide or narrow pattern (WP/NP) of the... 相似文献
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Background: For some people with aphasia, returning to work will be their eventual goal. While there are reports in the literature of incidence of return to work, and general discussion of success, there are few documented in depth studies of what this might entail for the individual with aphasia. Aims: This paper explores returning to work with aphasia, and examines the complex relationship between the person, the aphasia and the demands of employment. Methods & Procedures: This is a detailed case report, describing and reflecting on the experiences of GD, who returned to work following his stroke and aphasia. Therapy focused specifically on work requirements is described and the factors affecting GD's return to work explored. An interview was used to elicit GD's reflections on his experiences. Outcome & Results: GD's language skills improved over time and with therapy, and he developed several strategies that facilitated his communication. He was able to return to work (part-time) in a modified role and this was successful initially. After an extended period (~19 months) his employment was terminated and GD explored other options. He moved on to a volunteering and charity trustee role. Conclusions: The success (or not) of returning to work with aphasia is multi-faceted and does not rest solely with the person with aphasia. The nature of the work may have a strong bearing on success, as will the ability and willingness of the employer to engage in the process. Partnership with the person and constant review of goals and management is of overwhelming importance. We need to consider what “success” may mean in this context and the need to consider therapeutic and rehabilitation needs over a longer time frame. 相似文献
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Detection of anti-HTLV-I Tax antibodies in HTLV-I enzyme-linked immunosorbent assay-negative individuals 总被引:10,自引:0,他引:10
Ehrlich GD; Glaser JB; Abbott MA; Slamon DJ; Keith D; Sliwkowski M; Brandis J; Keitelman E; Teramoto Y; Papsidero L 《Blood》1989,74(3):1066-1072
The HTLV-I tax gene protein (Tax) is not packaged within the mature viral particle from which the proteins for the commercially available enzyme-linked immunosorbent assay (ELISA) are derived. Screening of 162 individuals within a cohort of white intravenous (IV) drug abusers, previously identified as having an increased incidence of HTLV-I infection, demonstrated that seven of them had antibodies to the HTLV-I Tax protein but tested negative in HTLV-I ELISAs and Western blots prepared from purified virion proteins. Three out of 35 individuals in other behaviorally defined high-risk groups also displayed this limited pattern of reactivity to HTLV-I proteins. The presence of the anti-HTLV- I p40/Tax antibodies was determined by radioimmunoprecipitation assay (RIPA), which also revealed low levels of anti-env reactivity. The specificity of the anti-p40 reactivity was confirmed on specific Tax ELISAs and Western blots prepared from recombinantly produced Tax. In vitro gene amplification by the polymerase chain reaction (PCR) was used to establish the presence of sequences homologous to HTLV-I proviral DNA in four/four of these HTLV-I ELISA negative, Tax ELISA/Tax western blot/RIPA positive individuals. These data suggest that the true incidence of HTLV-I infection within high-risk cohorts is greater than previously reported. 相似文献
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A George VM Srivastava GD Sundararaj 《Journal of Medical Imaging and Radiation Oncology》1997,41(2):199-200
A young man presented with desmoplastic fibroma in the proximal ulna. This rare tumour was treated by curettage and bone grafting. 相似文献
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A Blanco G Solis E Arranz GD Coto A Ramos J Telleria 《Acta paediatrica (Oslo, Norway : 1992)》1996,85(6):728-732
The purpose of this study is to measure soluble CD14 (sCD14) levels in sera from newborn with sepsis, to compare it with other markers, and to study its evolution in Gram-negative and Gram-positive sepsis. Forty normal newborns were included (26 were full term and 14 were preterm infants), 20 babies had a positive blood culture (11 Gram-positive and 9 Gram-negative) and 16 cases were suspected of having sepsis based on clinical and laboratory findings, but a negative blood culture. Interleukin-6 (IL-6), sCD14, and tumour necrosis factor-α (TNFα) were measured by enzyme immunoassay, and fibronectin (FN) and C-reactive protein (CRP) by radial immunodiffusion. Neonates with a positive blood culture had increased levels of sCD14(3.20 ± 1.26μgml-1 , p < 0.001), CRP(69 ± 46 μgml-1 , p < 0.001)and IL-6 (134 ± 150 pg ml-1 , p < 0.001), and decreased values of FN (12.3 ± 6.6 mg ml-1 , p < 0.001). TNFα levels were also high (160 ± 37 pg ml-1 ), but this increase was not statistically significant. Newborn infants suspected of having sepsis but a negative blood culture had similar but milder abnormalities. Soluble CD 14 levels correlated with CRP values; however, there was no correlation between sCD 14, TNFα and IL-6. Neonates with sepsis by Gram-positive bacteria had lower sCD14 levels than patients with Gram-negative sepsis (2.63 ± 1.2 versus 4.04 ± 1.0μgml-1 , p < 0.05). In conclusion, the sCD14 level is increased in newborn infants with sepsis, and this is higher in infections by Gram-negative bacteria, suggesting a different contribution of monocyte and macrophage cells. In contrast, IL-6, TNFα, CRP and FN values are similar in infections by Gram-positive and Gram-negative bacteria. 相似文献