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https://www.readbyqxmd.com/read/29352617/high-frequency-of-c9orf72-hexanucleotide-repeat-expansion-in-amyotrophic-lateral-sclerosis-patients-from-two-founder-populations-sharing-the-same-risk-haplotype
#1
Orly Goldstein, Mali Gana-Weisz, Beatrice Nefussy, Batel Vainer, Omri Nayshool, Anat Bar-Shira, Bryan J Traynor, Vivian E Drory, Avi Orr-Urtreger
We characterized the C9orf72 hexanucleotide repeat expansion (RE) mutation in amyotrophic lateral sclerosis (ALS) patients of 2 distinct origins, Ashkenazi and North Africa Jews (AJ, NAJ), its frequency, and genotype-phenotype correlations. In AJ, 80% of familial ALS (fALS) and 11% of sporadic ALS carried the RE, a total of 12.9% of all AJ-ALS compared to 0.3% in AJ controls (odds ratio [OR] = 44.3, p < 0.0001). In NAJ, 10% of fALS and 9% of sporadic ALS carried the RE, a total of 9.1% of all NAJ-ALS compared to 1% in controls (OR = 9...
December 27, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/29352299/bunyavirus-requirement-for-endosomal-k-reveals-new-roles-of-cellular-ion-channels-during-infection
#2
Samantha Hover, Becky Foster, Juan Fontana, Alain Kohl, Steve A N Goldstein, John N Barr, Jamel Mankouri
In order to multiply and cause disease a virus must transport its genome from outside the cell into the cytosol, most commonly achieved through the endocytic network. Endosomes transport virus particles to specific cellular destinations and viruses exploit the changing environment of maturing endocytic vesicles as triggers to mediate genome release. Previously we demonstrated that several bunyaviruses, which comprise the largest family of negative sense RNA viruses, require the activity of cellular potassium (K+) channels to cause productive infection...
January 19, 2018: PLoS Pathogens
https://www.readbyqxmd.com/read/29352027/the-thalamus-in-drug-addiction-from-rodents-to-humans
#3
REVIEW
Anna S Huang, Jameson A Mitchell, Suzanne N Haber, Nelly Alia-Klein, Rita Z Goldstein
Impairments in response inhibition and salience attribution (iRISA) have been proposed to underlie the clinical symptoms of drug addiction as mediated by cortico-striatal-thalamo-cortical networks. The bulk of evidence supporting the iRISA model comes from neuroimaging research that has focused on cortical and striatal influences with less emphasis on the role of the thalamus. Here, we highlight the importance of the thalamus in drug addiction, focusing on animal literature findings on thalamic nuclei in the context of drug-seeking, structural and functional changes of the thalamus as measured by imaging studies in human drug addiction, particularly during drug cue and non-drug reward processing, and response inhibition tasks...
March 19, 2018: Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences
https://www.readbyqxmd.com/read/29350262/vagal-nerve-stimulation-for-medically-refractory-epilepsy-in-angelman-syndrome-a-series-of-three-cases
#4
REVIEW
Krystal L Tomei, Christine Y Mau, Michael Ghali, Jayoung Pak, Ira M Goldstein
BACKGROUND: We describe three children with Angelman syndrome and medically refractory epilepsy. METHODS: Case series of three pediatric patients with Angelman syndrome and medically refractory epilepsy. All three patients failed medical treatment and were recommended for vagal nerve stimulator (VNS) implantation. RESULTS: Following VNS implantation, all three patients experienced reduction in seizure frequency greater than that afforded by medication alone...
January 19, 2018: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29349211/who-votes-for-public-health-u-s-senator-characteristics-associated-with-voting-in-concordance-with-public-health-policy-recommendations-1998-2013
#5
Jonathan Purtle, Neal D Goldstein, Eli Edson, Annamarie Hand
Background: The voting behaviors of elected officials shape the public's health. Little is known, however, about the characteristics of elected officials who vote in concordance with public health policy recommendations. This article presents the results of study conducted with the aims of: 1) testing the hypothesis that US Democrat Senators vote in concordance with American Public Health Association (APHA) policy recommendations more frequently than US Republican Senators, 2) identifying US Senator characteristics independently associated with voting in concordance with APHA, and 3) assessing trends in APHA voting concordance by political party...
December 2017: SSM—Population Health
https://www.readbyqxmd.com/read/29348925/volume-estimates-in-chronic-hemodialysis-patients-by-the-watson-equation-and-bioimpedance-spectroscopy-and-the-impact-on-the-kt-vurea-calculation
#6
Nazanin Noori, Ron Wald, Arti Sharma Parpia, Marc B Goldstein
Background: Accurate assessment of total body water (TBW) is essential for the evaluation of dialysis adequacy (Kt/Vurea). The Watson formula, which is recommended for the calculation of TBW, was derived in healthy volunteers thereby leading to potentially inaccurate TBW estimates in maintenance hemodialysis recipients. Bioimpedance spectroscopy (BIS) may be a robust alternative for the measurement of TBW in hemodialysis recipients. Objectives: The primary objective of this study was to evaluate the accuracy of Watson formula-derived TBW estimates as compared with TBW measured with BIS...
2018: Canadian Journal of Kidney Health and Disease
https://www.readbyqxmd.com/read/29348144/a-crispr-tagging-based-screen-reveals-localized-players-in-wnt-directed-asymmetric-cell-division
#7
Jennifer K Heppert, Ariel M Pani, Allyson M Roberts, Daniel J Dickinson, Bob Goldstein
Oriented cell divisions are critical to establish and maintain cell fates and tissue organization. Diverse extracellular and intracellular cues have been shown to provide spatial information for mitotic spindle positioning, however, the molecular mechanisms by which extracellular signals communicate with cells to direct mitotic spindle positioning are largely unknown. In animal cells, oriented cell divisions are often achieved by the localization of force-generating, motor protein complexes to discrete cortical domains...
January 18, 2018: Genetics
https://www.readbyqxmd.com/read/29348136/resting-state-functional-mri-everything-that-nonexperts-have-always-wanted-to-know
#8
REVIEW
H Lv, Z Wang, E Tong, L M Williams, G Zaharchuk, M Zeineh, A N Goldstein-Piekarski, T M Ball, C Liao, M Wintermark
Resting-state fMRI was first described by Biswal et al in 1995 and has since then been widely used in both healthy subjects and patients with various neurologic, neurosurgical, and psychiatric disorders. As opposed to paradigm- or task-based functional MR imaging, resting-state fMRI does not require subjects to perform any specific task. The low-frequency oscillations of the resting-state fMRI signal have been shown to relate to the spontaneous neural activity. There are many ways to analyze resting-state fMRI data...
January 18, 2018: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/29338747/oxidative-stress-predicts-cognitive-decline-with-aging-in-healthy-adults-an-observational-study
#9
Ihab Hajjar, Salim S Hayek, Felicia C Goldstein, Greg Martin, Dean P Jones, Arshed Quyyumi
BACKGROUND: Redox signaling, which can be assessed by circulating aminothiols, reflects oxidative stress (OS) status and has been linked to clinical cardiovascular disease and its risk factors. These, in turn, are related to executive function decline. OS may precede the pro-inflammatory state seen in vascular disease. The objective of this study is to investigate the association between aminothiol markers of OS and inflammation in cognitive decline, especially in the executive cognitive domain which is highly susceptible to cardiovascular risk factors and is an important predictor of cognitive disability...
January 16, 2018: Journal of Neuroinflammation
https://www.readbyqxmd.com/read/29335238/automating-quality-measures-for-heart-failure-using-natural-language-processing-a-descriptive-study-in-the-department-of-veterans-affairs
#10
Jennifer Hornung Garvin, Youngjun Kim, Glenn Temple Gobbel, Michael E Matheny, Andrew Redd, Bruce E Bray, Paul Heidenreich, Dan Bolton, Julia Heavirland, Natalie Kelly, Ruth Reeves, Megha Kalsy, Mary Kane Goldstein, Stephane M Meystre
BACKGROUND: We developed an accurate, stakeholder-informed, automated, natural language processing (NLP) system to measure the quality of heart failure (HF) inpatient care, and explored the potential for adoption of this system within an integrated health care system. OBJECTIVE: To accurately automate a United States Department of Veterans Affairs (VA) quality measure for inpatients with HF. METHODS: We automated the HF quality measure Congestive Heart Failure Inpatient Measure 19 (CHI19) that identifies whether a given patient has left ventricular ejection fraction (LVEF) <40%, and if so, whether an angiotensin-converting enzyme inhibitor or angiotensin-receptor blocker was prescribed at discharge if there were no contraindications...
January 15, 2018: JMIR Medical Informatics
https://www.readbyqxmd.com/read/29329292/transcriptome-profiling-with-focus-on-potential-key-genes-for-wing-development-and-evolution-in-megaloprepus-caerulatus-the-damselfly-species-with-the-world-s-largest-wings
#11
Wiebke Feindt, Sara J Oppenheim, Robert DeSalle, Paul Z Goldstein, Heike Hadrys
The evolution, development and coloration of insect wings remains a puzzling subject in evolutionary research. In basal flying insects such as Odonata, genomic research regarding bauplan evolution is still rare. Here we focus on the world's largest odonate species-the "forest giant" Megaloprepus caerulatus, to explore its potential for looking deeper into the development and evolution of wings. A recently discovered cryptic species complex in this genus previously considered monotypic is characterized by morphological differences in wing shape and color patterns...
2018: PloS One
https://www.readbyqxmd.com/read/29327830/igg-endopeptidase-in-highly-sensitized-patients-undergoing-transplantation
#12
Steven S Goldstein
No abstract text is available yet for this article.
October 26, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/29324863/correction-orion-detecting-regions-of-the-human-non-coding-genome-that-are-intolerant-to-variation-using-population-genetics
#13
Ayal B Gussow, Brett R Copeland, Ryan S Dhindsa, Quanli Wang, Slavé Petrovski, William H Majoros, Andrew S Allen, David B Goldstein
[This corrects the article DOI: 10.1371/journal.pone.0181604.].
2018: PloS One
https://www.readbyqxmd.com/read/29324544/gestational-trophoblastic-disease-electronic-consults-what-do-patients-and-physicians-want-to-know
#14
Roni Nitecki, Ross S Berkowitz, Kevin M Elias, Donald P Goldstein, Neil S Horowitz
OBJECTIVES: Given the rarity of gestational trophoblastic disease (GTD), specialized regional and national centers for GTD have been established. These centers serve at least 3 purposes: to improve care for women with GTD, to enhance research though collaboration, and to educate other clinicians. This study was undertaken to understand the potential GTD knowledge gap by examining both patient and physician inquiries received at a specialized GTD center. METHODS: All electronic consults received by specialists at our center between March 2016 and March 2017 were analyzed...
January 10, 2018: International Journal of Gynecological Cancer
https://www.readbyqxmd.com/read/29322088/successful-management-of-persistent-lower-extremity-lymphedema-with-suction-assisted-lipectomy
#15
John P Micha, Dung H Nguyen, Bram H Goldstein
Introduction: Lower-extremity lymphedema is a significant complication attributed to gynecologic cancer surgery, potentially effectuating severe edema and discernible pain. Case report: We report on a patient who developed persistent, lower-extremity lymphedema following her treatment for cervix cancer. Despite repeated efforts to manage the lymphedema with conventional measures, the patient's condition had not markedly improved. Thereafter, she underwent a suction-assisted lipectomy that effectively resolved her symptoms...
February 2018: Gynecologic Oncology Reports
https://www.readbyqxmd.com/read/29320174/comprehensive-analysis-of-changes-in-crude-oil-chemical-composition-during-biosouring-and-treatments
#16
Jeremy A Nowak, Pravin Malla Shrestha, Robert Jay Weber, Amy M McKenna, Huan Chen, John D Coates, Allen H Goldstein
Biosouring in crude oil reservoirs by sulfate-reducing microbial communities (SRCs) results in hydrogen sulfide production, precipitation of metal sulfide complexes, increased industrial costs of petroleum production, and exposure issues for personnel. Potential treatment strategies include nitrate or perchlorate injections into reservoirs. Gas chromatography with vacuum ultraviolet ionization and high-resolution time-of-flight mass spectrometry (GC-VUV-HTOF) and Fourier transform ion cyclotron resonance mass spectrometry (FT-ICR MS) combined with electrospray ionization were applied in this study to identify hydrocarbon degradation patterns and product formations in crude oil samples from biosoured, nitrate treated, and perchlorate treated bioreactor column experiments...
January 10, 2018: Environmental Science & Technology
https://www.readbyqxmd.com/read/29319390/an-exploration-of-pain-experiences-and-their-meaning-in-people-with-chronic-obstructive-pulmonary-disease
#17
Annemarie L Lee, Samantha L Harrison, Roger S Goldstein, Dina Brooks
BACKGROUND: Pain is a common symptom in people with chronic obstructive pulmonary disease (COPD) which negatively influences quality of life and psychological well-being. However, our understanding of how those with COPD interpret the experience of pain is very limited. OBJECTIVES: To explore how individuals with moderate to severe COPD experience pain. METHODS: Eight patients diagnosed with COPD who reported experiencing pain for greater than three months participated in in-depth interviews...
January 10, 2018: Physiotherapy Theory and Practice
https://www.readbyqxmd.com/read/29316571/validation-of-three-postoperative-risk-prediction-models-for-intensive-care-unit-mortality-after-cardiac-surgery
#18
Samuel Henry Howitt, Camila Caiado, Charles McCollum, Michael Goldstein, Ignacio Malagon, Rajamiyer Venkateswaran, Stuart William Grant
BACKGROUND:  Several cardiac surgery risk prediction models based on postoperative data have been developed. However, unlike preoperative cardiac surgery risk prediction models, postoperative models are rarely externally validated or utilized by clinicians. The objective of this study was to externally validate three postoperative risk prediction models for intensive care unit (ICU) mortality after cardiac surgery. METHODS:  The logistic Cardiac Surgery Scores (logCASUS), Rapid Clinical Evaluation (RACE), and Sequential Organ Failure Assessment (SOFA) scores were calculated over the first 7 postoperative days for consecutive adult cardiac surgery patients between January 2013 and May 2015...
January 9, 2018: Thoracic and Cardiovascular Surgeon
https://www.readbyqxmd.com/read/29314751/emergency-airway-and-ventilator-procedures-for-community-based-home-care-staff-validation-of-an-educational-program
#19
Ann Marie Ramsey, Sarah Brennan, Adam Stricker, Kurt Riek, Dana Brown, Rachel Gurtowsky, Julie Sturza, Amy Goldstein Filbrun
BACKGROUND: Children discharged home with tracheostomy and chronic mechanical ventilator support are at high risk for complications and adverse events. Private duty nursing and home respiratory care services are a critical support necessary for successful discharge. The literature suggests that there are opportunities for home care staff (HCS) to improve upon the skills necessary to assess and intervene in an emergency thereby increasing the likelihood of improving long-term outcomes...
January 4, 2018: Pediatric Pulmonology
https://www.readbyqxmd.com/read/29313968/cochrane-systematic-review-and-meta-analysis-of-the-impact-of-psychological-treatments-for-people-with-epilepsy-on-health-related-quality-of-life
#20
REVIEW
Rosa Michaelis, Venus Tang, Janelle L Wagner, Avani C Modi, W Curt LaFrance, Laura H Goldstein, Tobias Lundgren, Markus Reuber
OBJECTIVE: Given the significant impact epilepsy can have on health-related quality of life (HRQoL) of individuals with this condition and their families, there is great clinical interest in evidence-based psychological treatments aimed at enhancing well-being in people with epilepsy (PWE). An evaluation of the current evidence is needed to assess the effects of psychological treatments for PWE on HRQoL outcomes to inform future therapeutic recommendations and research designs. METHODS: The operational definition of psychological treatments included a broad range of interventions that use psychological or behavioral techniques designed to improve HRQoL, psychiatric comorbidities, and seizure frequency and severity for adults and children with epilepsy...
January 3, 2018: Epilepsia
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