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Wilk M.A.,Medical College of Wisconsin | McAllister J.T.,Medical College of Wisconsin | Cooper R.F.,Marquette University | Dubis A.M.,Moorfields Eye Hospital | And 16 more authors.
Investigative Ophthalmology and Visual Science | Year: 2014

Purpose. Albinism is associated with disrupted foveal development, though intersubject variability is becoming appreciated. We sought to quantify this variability, and examine the relationship between foveal cone specialization and pit morphology in patients with a clinical diagnosis of albinism. Methods. We recruited 32 subjects with a clinical diagnosis of albinism. DNA was obtained from 25 subjects, and known albinism genes were analyzed for mutations. Relative inner and outer segment (IS and OS) lengthening (fovea-to-perifovea ratio) was determined from manually segmented spectral domain-optical coherence tomography (SD-OCT) B-scans. Foveal pit morphology was quantified for eight subjects from macular SD-OCT volumes. Ten subjects underwent imaging with adaptive optics scanning light ophthalmoscopy (AOSLO), and cone density was measured. Results. We found mutations in 22 of 25 subjects, including five novel mutations. All subjects lacked complete excavation of inner retinal layers at the fovea, though four subjects had foveal pits with normal diameter and/or volume. Peak cone density and OS lengthening were variable and overlapped with that observed in normal controls. A fifth hyper-reflective band was observed in the outer retina on SD-OCT in the majority of the subjects with albinism. Conclusions. Foveal cone specialization and pit morphology vary greatly in albinism. Normal cone packing was observed in the absence of a foveal pit, suggesting a pit is not required for packing to occur. The degree to which retinal anatomy correlates with genotype or visual function remains unclear, and future examination of larger patient groups will provide important insight on this issue. © 2014 The Association for Research in Vision and Ophthalmology, Inc.


Dudas P.M.,Core Laboratory
Proceedings of the 2013 IEEE 2nd International Network Science Workshop, NSW 2013 | Year: 2013

Developing a network based on Twitter data for social network analysis (SNA) is a common task in most academic domains. The need for real-time analysis is not as prevalent due to the fact that researchers are interested in the analysis of Twitter information after a major event or for an overall statistical or sociological study of general Twitter users. Dark network analysis is a specific field that focuses on criminal, terroristic, or people of interest networks in which evaluating information quickly and making decisions from this information is crucial. We propose a plaiform and visualization called Dynamic Twitter Network Analysis (DTNA) that incorporates real-time information from Twitter, its subsequent network topology, geographical placement of geotagged tweets on a Google Map, and storage for long-term analysis. The plaiform provides a SNA visualization that allows the user to interpret and change the search criteria quickly based on visual aesthetic properties built from key dark network utilities with a user interface that can be dynamic, up-to-date for time critical decisions and geographic specific. © 2013 IEEE.


Wu D.,Nanjing Medical University | Zhang Z.,Nanjing Medical University | Zhang Z.,Nanjing University | Chu H.,Nanjing Medical University | And 4 more authors.
PLoS ONE | Year: 2013

Background:P53 is a tumor suppressor gene and plays important role in the etiology of breast cancer. Intron 3 sixteen-bp duplication polymorphism of p53 has been reported to be associated with breast cancer risk. However, the reported results remain conflicting rather than conclusive.Methods:A meta-analysis including 19 case-control studies was performed to address this issue. Odds ratios (ORs) with 95% confidence intervals (CIs) were adopted to evaluate the association.Results:The overall results suggested that the variant genotypes were associated with a significantly increased breast cancer risk (Del/Ins vs Del/Del: OR = 1.18, 95% CI: 1.00-1.40; Ins/Ins vs Del/Del: OR = 1.42, 95% CI = 1.09-1.84; Ins/Ins+Del/Ins vs Del/Del: OR = 1.21, 95% CI = 1.03-1.41). When stratifying by sample size of studies, a significantly elevated risk was also observed among large sample studies (>500 subjects) but not among small sample studies (≤500 subjects).Conclusion:These results suggested that the 16-bp duplication polymorphism of p53 may contribute to susceptibility to breast cancer. Additional well-designed large studies were required to validate this association in different populations. © 2013 Wu et al.


Darabi A.,Core Laboratory | Hocquet D.,University Hospital | Dowzicky M.J.,Pfizer
Diagnostic Microbiology and Infectious Disease | Year: 2010

We report here on the in vitro activity of tigecycline and comparators against a global collection of Streptococcus pneumoniae and Haemophilus influenzae collected between 2004 and 2008 as part of the Tigecycline Evaluation and Surveillance Trial. A total of 6785 S. pneumoniae and 6642 H. influenzae isolates were collected, most from North America. The percentages of penicillin-intermediate resistance and penicillin resistance among S. pneumoniae in North America were 27.8% and 14.3%, respectively. Penicillin resistance ranged from 9.3% in Europe to 25.1% in the Asia-Pacific Rim. The rate of β-lactamase-producing H. influenzae was 25.8% in North America, and among the other regions, it ranged from 8.7% in South Africa to 26.8% in the Asia-Pacific Rim. Tigecycline MIC90's were 0.03 to 0.12 mg/L and 0.5 to 2 mg/L, depending on the region considered, against S. pneumoniae and H. influenzae, respectively. Tigecycline had low MIC90's against S. pneumoniae and H. influenzae, irrespective of resistance to β-lactams. © 2010 Elsevier Inc.


Dietzen D.J.,University of Washington | Dietzen D.J.,Core Laboratory | Wilhite T.R.,Core Laboratory | Rasmussen M.,Sharp Mary Birch Hospital | Sheffield M.,Endocrine Research Specialists
Diabetes Technology and Therapeutics | Year: 2013

Background: Asymptomatic hypoglycemia in neonates may contribute to neurologic deficits during development. Whole-blood glucose sensors are often imprecise and inaccurate at the low glucose concentrations found in neonates. Subjects and Methods: In this study, a glucose sensor using a mutated glucose dehydrogenase that does not cross-react significantly with maltose was evaluated at three pediatric centers. Blood samples (n=575) from infants less than 30 days of age (hematocrit 23-70%) were analyzed using six reagent lots on three ACCU-CHEK® meters (Roche Diagnostics, Indianapolis, IN): the Inform II, Performa, and Aviva. Reference glucose level was determined in duplicate in perchloric acid extracts using a coupled hexokinase procedure. Results: Imprecision of glucose measurement using stable control materials ranged from 2.0% to 3.1% (coefficient of variation) using the glucose meters and from 0.8% to 5.3% (coefficient of variation) in perchloric acid-treated controls. The difference between meter glucose values and reference values showed a slight dependence on hematocrit from 23% to 70% (r=-0.391, P<0.001) but not in the typical range of neonatal hematocrit from 45% to 70% (r=-0.036, P=0.239). Linear regression of the aggregated results yielded the following relationship: Meter glucose=0.99×Reference Glucose+0.04; r 2=0.976; Syx=0.249. Receiver-operator characteristic analysis of the data using 2.2 mmol/L as the reference threshold for hypoglycemia yielded an area under the curve value of 0.993. All infants with a glucose level of <2.2 mmol/L were detected (100% sensitivity) when the meter glucose value was below 2.8 mmol/L. Conclusions: These data indicate that the modified ACCU-CHEK chemistry may be used effectively in neonatal settings to detect clinically significant hypoglycemia. © 2013 Mary Ann Liebert, Inc.

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