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Search Results: 1 - 10 of 145685 matches for " Lindsay B. Henderson "
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First Trimester Diagnosis of Holoprosencephaly Secondary to a Ring Chromosome 7
Lindsay B. Henderson,Virginia L. Corson,Daniel O. Saul,Cynthia Anderson
Case Reports in Genetics , 2013, DOI: 10.1155/2013/578202
Abstract:
Mutations that permit residual CFTR function delay acquisition of multiple respiratory pathogens in CF patients
Deanna M Green, Kathryn E McDougal, Scott M Blackman, Patrick R Sosnay, Lindsay B Henderson, Kathleen M Naughton, J Michael Collaco, Garry R Cutting
Respiratory Research , 2010, DOI: 10.1186/1465-9921-11-140
Abstract: Lung infection, defined as a single positive respiratory tract culture, was assessed for 13 organisms in 1,381 individuals with CF. Subjects were divided by predicted CFTR function: 'Residual': carrying at least one partial function CFTR mutation (class IV or V) and 'Minimal' those who do not carry a partial function mutation. Kaplan-Meier estimates were created to assess CFTR effect on age of acquisition for each organism. Cox proportional hazard models were performed to control for possible cofactors. A separate Cox regression was used to determine whether defining infection with Pa, mucoid Pa or Aspergillus (Asp) using alternative criteria affected the results. The influence of severity of lung disease at the time of acquisition was evaluated using stratified Cox regression methods by lung disease categories.Subjects with 'Minimal' CFTR function had a higher hazard than patients with 'Residual' function for acquisition of 9 of 13 organisms studied (HR ranging from 1.7 to 3.78 based on the organism studied). Subjects with minimal CFTR function acquired infection at a younger age than those with residual function for 12 of 13 organisms (p-values ranging: < 0.001 to 0.017). Minimal CFTR function also associated with younger age of infection when 3 alternative definitions of infection with Pa, mucoid Pa or Asp were employed. Risk of infection is correlated with CFTR function for 8 of 9 organisms in patients with good lung function (>90%ile) but only 1 of 9 organisms in those with poorer lung function (<50%ile).Residual CFTR function correlates with later onset of respiratory tract infection by a wide spectrum of organisms frequently cultured from CF patients. The protective effect conferred by residual CFTR function is diminished in CF patients with more advanced lung disease.Cystic fibrosis (CF) is the most common autosomal recessive life-shortening disorder in the Caucasian population and progressive obstructive lung disease is the primary cause of mortality[1,2].
First Trimester Diagnosis of Holoprosencephaly Secondary to a Ring Chromosome 7
Lindsay B. Henderson,Virginia L. Corson,Daniel O. Saul,Cynthia Anderson,Sarah Millard,Denise A. S. Batista,Karin J. Blakemore,Cheryl DeScipio
Case Reports in Genetics , 2013, DOI: 10.1155/2013/578202
Abstract: Holoprosencephaly (HPE) is a developmental defect in humans in which the forebrain fails to completely separate into two hemispheres. We describe a 12 3/7-week-old fetus found on ultrasound evaluation to have features consistent with HPE, including a single anterior ventricle, fused thalami, and a flattened profile. Cytogenetic analysis of chorionic villi revealed a ring chromosome 7 [r(7)]. This uncommon finding has been associated with growth delay, microcephaly, and dermatologic abnormalities. However, both the clinical features and the extent of cytogenetic imbalance of chromosome 7 are variable, and few reported cases of r(7) have been molecularly studied. To our knowledge, this is the first report of a prenatally identified r(7), molecularly characterized using array comparative genomic hybridization. 1. Introduction Ring chromosome 7 [r(7)] is a rare cytogenetic abnormality, with only 17 postnatal cases reported. The most common clinical findings associated with r(7) are growth delay, microcephaly, and dermatologic abnormalities; however, a spectrum of other features has also been described, including two cases with holoprosencephaly (HPE), a failure of the forebrain to completely separate into two hemispheres during development. Phenotypic severity of r(7) is likely correlated with the extent of cytogenetic imbalance of chromosome 7, although few reported cases have been molecularly studied to characterize the gene content lost or gained by the ring chromosome, if any. Here, we present the first report of a prenatally identified r(7), molecularly characterized using array comparative genomic hybridization. 2. Case Presentation A 31-year-old gravida 2 para 1001 Caucasian woman presented for first trimester screening at 12 weeks 3 days gestation from last menstrual period. Her husband was a 29-year-old Caucasian male who had a niece with Down syndrome. The couple had one healthy child and the family history was otherwise unremarkable. Ultrasound evaluation revealed a single anterior ventricle, fused thalami, an increased nuchal translucency measuring 2.9?mm, a flattened profile with an absent nasal bone, and skin edema of the thorax and abdomen (Figure 1). These findings were most consistent with a form of HPE, undifferentiated due to the early gestational age. Possible etiologies were discussed, and the patient elected to proceed with chorionic villus sampling (CVS). A subsequent ultrasound evaluation at 14 weeks 3 days confirmed the previous ultrasound examination findings and also revealed hypotelorism. Figure 1: Ultrasound images at 12 3/7
Variation in MSRA Modifies Risk of Neonatal Intestinal Obstruction in Cystic Fibrosis
Lindsay B. Henderson,Vishal K. Doshi,Scott M. Blackman,Kathleen M. Naughton,Rhonda G. Pace,Jackob Moskovitz,Michael R. Knowles,Peter R. Durie,Mitchell L. Drumm,Garry R. Cutting
PLOS Genetics , 2012, DOI: 10.1371/journal.pgen.1002580
Abstract: Meconium ileus (MI), a life-threatening intestinal obstruction due to meconium with abnormal protein content, occurs in approximately 15 percent of neonates with cystic fibrosis (CF). Analysis of twins with CF demonstrates that MI is a highly heritable trait, indicating that genetic modifiers are largely responsible for this complication. Here, we performed regional family-based association analysis of a locus that had previously been linked to MI and found that SNP haplotypes 5′ to and within the MSRA gene were associated with MI (P = 1.99×10?5 to 1.08×10?6; Bonferroni P = 0.057 to 3.1×10?3). The haplotype with the lowest P value showed association with MI in an independent sample of 1,335 unrelated CF patients (OR = 0.72, 95% CI [0.53–0.98], P = 0.04). Intestinal obstruction at the time of weaning was decreased in CF mice with Msra null alleles compared to those with wild-type Msra resulting in significant improvement in survival (P = 1.2×10?4). Similar levels of goblet cell hyperplasia were observed in the ilea of the Cftr?/? and Cftr?/?Msra?/? mice. Modulation of MSRA, an antioxidant shown to preserve the activity of enzymes, may influence proteolysis in the developing intestine of the CF fetus, thereby altering the incidence of obstruction in the newborn period. Identification of MSRA as a modifier of MI provides new insight into the biologic mechanism of neonatal intestinal obstruction caused by loss of CFTR function.
Time expansion chamber system for characterization of TWIST low energy muon beams
J. Hu,G. Sheffer,Yu. I. Davydov,D. R. Gill,P. Gumplinger,R. S. Henderson,B. Jamieson,C. Lindsay,G. M. Marshall,K. Olchanski,A. Olin,R. Openshaw,V. Selivanov
Physics , 2006, DOI: 10.1016/j.nima.2006.07.037
Abstract: A low mass time expansion chamber (TEC) has been developed to measure distributions of position and angle of the TRIUMF low energy surface muon beam used for the TWIST experiment. The experiment is a high precision measurement of muon decay and is dominated by systematic uncertainties, including the stability, reproducibility, and characterization of the beam. The distributions measured by two TEC modules are one essential ingredient of an accurate simulation of TWIST. The uncertainties, which are extracted through comparisons of data and simulation, must be known to assess potential systematic uncertainties of the TWIST results. The design criteria, construction, alignment, calibration, and operation of the TEC system are discussed, including experiences from initial beam studies. A brief description of the use of TEC data in the TWIST simulation is also included.
Wind Power Uncertainty and Power System Performance  [PDF]
C. Lindsay Anderson, Judith B. Cardell
Engineering (ENG) , 2013, DOI: 10.4236/eng.2013.510A007
Abstract:

The penetration of wind power into global electric power systems is steadily increasing, with the possibility of 30% to 80% of electrical energy coming from wind within the coming decades. At penetrations below 10% of electricity from wind, the impact of this variable resource on power system operations is manageable with historical operating strategies. As this penetration increases, new methods for operating the power system and electricity markets need to be developed. As part of this process, the expected impact of increased wind penetration needs to be better understood and quantified. This paper presents a comprehensive modeling framework, combining optimal power flow with Monte Carlo simulations used to quantify the impact of high levels of wind power generation in the power system. The impact on power system performance is analyzed in terms of generator dispatch patterns, electricity price and its standard deviation, CO2 emissions and amount of wind power spilled. Simulations with 10%, 20% and 30% wind penetration are analyzed for the IEEE 39 bus test system, with input data representing the New England region. Results show that wind power predominantly displaces natural gas fired generation across all scenarios. The inclusion of increasing amounts of wind can result in price spike events, as the system is required to dispatch down expensive demand in order to maintain the energy balance. These events are shown to be mitigated by the inclusion of demand response resources. Benefits include significant reductions in CO2 emissions, up to 75% reductions at 30% wind penetration, as compared to emissions with no wind integration.

Technical aspects of home hemodialysis
Alhomayeed B,Lindsay R
Saudi Journal of Kidney Diseases and Transplantation , 2009,
Abstract: Home hemodialysis (HHD) has proved to be a useful form of renal replacement therapy. The economic advantage of HHD is well established and interest in it is renewed. Once it has been decided to establish a HHD program, a well developed strategic plan is required. This should address financial and logistical issues and establish policies that will address responsi-bilities of both patients and HD centers. The recruitment of patients is facilitated by ensuring that all incident patients have early access to an education program describing all forms of renal replacement therapy that the regional renal program provides. Patients and members of the pre-dialysis education program should understand the selection process criteria in advance. Once the assessment is completed and the patient agrees to the proceedings, a plan of action should be esta-blished for enrolling the patient into the program and initiating training. Patients′ education pro-gram should take into consideration principles of adult learning. When choosing dialysis equip-ment for home use, the needs and preferences of the patients should be respected. As a rule of thumb, the equipment should be simple to use, yet still provide adequate and reliable therapy. De-ciding where to set up and position the HHD equipment is important. Installation of HHD ma-chine at home requires a continuous supply of accessories. Before establishing a HHD program, commitment of the dialysis center to provide and maintain the infrastructure of the program is mandatory. The estimated patients suitable for HHD are less than 15% of all prospective dialysis patients. Generally, those who are have greatly improved quality of life and by using modalities such as nocturnal and daily dialysis can have improved physical well-being with considerable potential cost savings.
Beyond Boyer: SoTL in the Context of Interesting Scholarly Things
Bruce B. Henderson, PhD
InSight : A Journal of Scholarly Teaching , 2009,
Abstract: The positive effects of Ernest Boyer’s broader definition of scholarship have been attenuated by stress on published outcomes as indicators of all his scholarships, including the scholarship of teaching and learning (SoTL). At universities outside the research university sector, we need to find ways to recognize and reward a wide variety of interesting scholarly things related to teaching that are not likely to meet the formal assessment criteria that have come to define the SoTL category of scholarship. The faculty’s scholarliness in teaching should be recognized and evaluated directly.
Prospects for Characterizing Host Stars of the Planetary System Detections Predicted for the Korean Microlensing Telescope Network
Calen B. Henderson
Physics , 2014, DOI: 10.1088/0004-637X/800/1/58
Abstract: I investigate the possibility of constraining the flux of the lens (i.e., host star) for the types of planetary systems the Korean Microlensing Telescope Network is predicted to find. I examine the potential to obtain lens flux measurements by 1) imaging a lens once it is spatially resolved from the source, 2) measuring the elongation of the point spread function of the microlensing target (lens+source) when the lens and source are still unresolved, and 3) taking prompt follow-up photometry. In each case I simulate observing programs for a representative example of current ground-based adaptive optics (AO) facilities (specifically NACO on VLT), future ground-based AO facilities (GMTIFS on GMT), and future space telescopes (NIRCAM on $JWST$). Given the predicted distribution of relative lens-source proper motions, I find that the lens flux could be measured to a precision of $\sigma_{H_{\ell}} \leq 0.1$ for $\gtrsim$60$\%$ of planet detections $\geq$5 years after each microlensing event, for a simulated observing program using GMT that images resolved lenses. NIRCAM on $JWST$ would be able to carry out equivalently high-precision measurements for $\sim$28$\%$ of events $\Delta t$ = 10 years after each event by imaging resolved lenses. I also explore the effects various blend components would have on the mass derived from prompt follow-up photometry, including companions to the lens, companions to the source, and unassociated interloping stars. I find that undetected blend stars would cause catastrophic failures (i.e., $>$50$\%$ fractional uncertainty in the inferred lens mass) for $\lesssim$(16$\cdot f_{\rm bin})\%$ of planet detections, where $f_{\rm bin}$ is the binary fraction, with the majority of these failures occurring for host stars with mass $\lesssim$0.3$M_{\odot}$.
The cellular microenvironment modulates the role of PAI-1 and vitronectin in mediating cell-matrix interactions  [PDF]
Sumit Goswami, Lawrence C. Thompson, Lindsay Wickman, Cynthia B. Peterson
Advances in Biological Chemistry (ABC) , 2013, DOI: 10.4236/abc.2013.31015
Abstract:

Plasminogen activator inhibitor-1 (PAI-1), a member of the serine protease inhibitor (serpin) superfamily of proteins, circulates in a complex with vitronectin. Furthermore, these two proteins are co-localized in the extracellular matrix (ECM) in many different pathophysiological conditions. Though PAI-1 is a well-characterized inhibitor of serine proteases, recent emphasis has also focused on its protease-independent functions. Vitronectin, a multi-domain protein that binds a wide variety of ligands and proteins, exists in the circulation in a preferred monomeric state, while in the extracellular matrix it exists as a multimer resulting from an altered conformation. Though the mechanism for the conformational alterations and compartmentalization in tissues is unknown, there are a number of biomolecules including PAI-1 that appear to cause such changes. Experimental analysis has established that PAI-1 induces association of vitronectin to higher-order species in a concentration-dependent fashion [1]. This report extends our investigations into the mechanism of the interaction between vitronectin and PAI-1 to explore the physiological relevance of these higher-order complexes for cellular adhesion and migration. In this study, we evaluate the effects of the pericellular microenvironment on the functions of the multimeric complexes in a variety of relevant biological settings. Our findings underscore the importance of the variability of components within this microenvironment, including different receptors and ECM components, in governing the way in which the vitronectin/PAI-1 complex mediates cell-matrix interactions.

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