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https://www.readbyqxmd.com/read/29453449/functional-analysis-of-slc39a8-mutations-and-their-implications-for-manganese-deficiency-and-mitochondrial-disorders
#1
Eun-Kyung Choi, Trang-Tiffany Nguyen, Neil Gupta, Shigeki Iwase, Young Ah Seo
SLC39A8 encodes ZIP8, a divalent metal ion transporter. Mutations in the SLC39A8 gene are associated with congenital disorder of glycosylation type II and Leigh syndrome. Notably, affected patients with both disorders exhibited severe manganese (Mn) deficiency. The cellular function of human SLC39A8 (hSLC39A8) and the mechanisms by which mutations in this protein lead to human diseases are unclear. Herein, we show that hSLC39A8 mediates 54 Mn uptake by the cells, and its expression is regulated by Mn. While expression of wild-type hSLC39A8 increased 54 Mn uptake activity, disease-associated mutations abrogated the ability of the transporter to mediate Mn uptake into the cells, thereby providing a causal link to severe Mn deficiency...
February 16, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29452867/deep-inspiration-breath-hold-level-variability-and-deformation-in-locoregional-breast-irradiation
#2
Leigh Conroy, Sarah Quirk, Elizabeth Watt, Gillian Ecclestone, Jessica L Conway, Ivo A Olivotto, Tien Phan, Wendy L Smith
PURPOSE: The purpose of this study was to evaluate the dosimetric effect of breath hold level variability and deformation on breast, chest wall, internal mammary chain (IMC) nodes, and heart. METHODS AND MATERIALS: Left-sided post-lumpectomy (n = 12) and postmastectomy (n = 3) patients underwent deep inspiration breath hold (DIBH) and exhale breath hold (EBH) computed tomography (CT) scans. Forward-planned locoregional breast plans were created on the DIBH scan...
February 13, 2018: Practical Radiation Oncology
https://www.readbyqxmd.com/read/29451967/cognitive-behavioral-therapy-for-anxiety-and-related-disorders-a-meta-analysis-of-randomized-placebo-controlled-trials
#3
REVIEW
Joseph K Carpenter, Leigh A Andrews, Sara M Witcraft, Mark B Powers, Jasper A J Smits, Stefan G Hofmann
The purpose of this study was to examine the efficacy of cognitive behavioral therapy (CBT) for anxiety-related disorders based on randomized placebo-controlled trials. We included 41 studies that randomly assigned patients (N = 2,843) with acute stress disorder, generalized anxiety disorder (GAD), obsessive compulsive disorder (OCD), panic disorder (PD), posttraumatic stress disorder (PTSD), or social anxiety disorder (SAD) to CBT or a psychological or pill placebo condition. Findings demonstrated moderate placebo-controlled effects of CBT on target disorder symptoms (Hedges' g = 0...
February 16, 2018: Depression and Anxiety
https://www.readbyqxmd.com/read/29449827/sun-exposure-across-the-life-course-significantly-modulates-early-multiple-sclerosis-clinical-course
#4
Steve Simpson, Ingrid van der Mei, Robyn M Lucas, Anne-Louise Ponsonby, Simon Broadley, Leigh Blizzard, Bruce Taylor
Background: Low vitamin D and/or sun exposure have been associated with increased risk of multiple sclerosis (MS) onset. However, comparatively, few studies have prospectively examined associations between these factors and clinical course. Objectives: To evaluate the association of sun exposure parameters and vitamin D levels with conversion to MS and relapse risk in a prospectively monitored cohort of 145 participants followed after a first demyelinating event up to 5-year review (AusLong Study)...
2018: Frontiers in Neurology
https://www.readbyqxmd.com/read/29447884/knowledge-and-attitudes-of-early-childhood-development-practitioners-towards-hearing-health-in-poor-communities
#5
Shouneez Yousuf Hussein, De Wet Swanepoel, Leigh Biagio de Jager, Faheema Mahomed-Asmail
OBJECTIVE: Within the educational sector of low-and middle-income countries (LMICs), formal and informal early childhood development (ECD) centers are often the first point of contact for majority of children. Since early hearing detection services are mostly absent in LMICs, these ECD centers may serve as the first point of access to screenings for these children. ECD practitioner awareness regarding hearing and hearing loss is essential for the successful implementation of hearing screening programs...
March 2018: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29447384/antimicrobial-prophylaxis-with-combat-related-open-soft-tissue-injuries
#6
Bradley A Lloyd, Clinton K Murray, Faraz Shaikh, M Leigh Carson, Dana M Blyth, Elizabeth R Schnaubelt, Timothy J Whitman, David R Tribble
Introduction: All Department of Defense (DoD) guidance documents recommend cefazolin or clindamycin as post-trauma antibiotic prophylaxis for open soft-tissue injuries. Although not advocated, some patients with open soft-tissue injuries also received expanded Gram-negative coverage (EGN) prophylaxis based on the judgment of front-line trauma providers. During the study period, revised guidelines in 2011/2012 re-emphasized recommendations for using cefazolin or clindamycin, and stewardship efforts in the DoD trauma community aimed to reduce the practice of adding EGN to guideline-recommended antibiotic prophylaxis...
February 13, 2018: Military Medicine
https://www.readbyqxmd.com/read/29446948/a-structure-activity-relationship-study-of-bitopic-n6-substituted-adenosine-derivatives-as-biased-adenosine-a1-receptor-agonists
#7
Luigi Aurelio, Jo-Anne Baltos, Leigh Ford, Anh T N Nguyen, Manuela Jörg, Shane M Devine, Celine Valant, Paul J White, Arthur Christopoulos, Lauren T May, Peter J Scammells
Herein, we investigate the structure-activity relationships of a series of compounds derived from the bitopic N6-substituted adenosine derivative 1, a previously reported biased ligand at the A1 adenosine receptor. Modifications were made to the orthosteric adenosine pharmacophore, the linker and the allosteric 2-amino-3-benzoylthiophene pharmacophore to probe the structure-activity relationships, both in terms of the effect of these modifications on biased signalling as well as receptor subtype selectivity...
February 15, 2018: Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/29446112/variability-in-cross-domain-risk-perception-among-smallholder-farmers-in-mali-by-gender-and-other-demographic-and-attitudinal-characteristics
#8
Alison C Cullen, C Leigh Anderson, Pierre Biscaye, Travis W Reynolds
Previous research has shown that men and women, on average, have different risk attitudes and may therefore see different value propositions in response to new opportunities. We use data from smallholder farm households in Mali to test whether risk perceptions differ by gender and across domains. We model this potential association across six risks (work injury, extreme weather, community relationships, debt, lack of buyers, and conflict) while controlling for demographic and attitudinal characteristics. Factor analysis highlights extreme weather and conflict as eliciting the most distinct patterns of participant response...
February 15, 2018: Risk Analysis: An Official Publication of the Society for Risk Analysis
https://www.readbyqxmd.com/read/29446013/chronic-graft-specific-cell-mediated-immune-response-toward-candidate-xenogeneic-biomaterial
#9
Katherine V Gates, Leigh G Griffiths
Despite rabbits becoming an increasingly popular animal model, a flow cytometry panel that combines T cell markers (CD3, CD4, CD8, CD25, FOXP3) with a method for monitoring proliferation is lacking in this species. It has been shown that the rabbit model can be used to identify xenoantigens within bovine pericardium (BP), a common biological heart valve replacement material; however, these methods rely on monitoring the humoral immune response. The development of a rabbit T cell proliferation assay has utility in monitoring graft-specific cell-mediated immune responses toward bovine pericardium...
February 14, 2018: Immunologic Research
https://www.readbyqxmd.com/read/29445381/proteins-of-tnf-%C3%AE-and-il6-pathways-are-elevated-in-serum-of-type-1-diabetes-patients-with-microalbuminuria
#10
Sharad Purohit, Ashok Sharma, Wenbo Zhi, Shan Bai, Diane Hopkins, Leigh Steed, Bruce Bode, Stephen W Anderson, John Chip Reed, R Dennis Steed, Jin-Xiong She
Soluble cytokine receptors may play an important role in development of microalbuminuria (MA) in type-1 diabetes (T1D). In this study, we measured 12 soluble receptors and ligands from TNF-α/IL6/IL2 pathways in T1D patients with MA ( n = 89) and T1D patients without MA ( n = 483) participating in the PAGODA study. Twelve proteins in the sera from T1D patients with and without MA were measured using multiplex Luminex assays. Ten serum proteins (sTNFR1, sTNFR2, sIL2Rα, MMP2, sgp130, sVCAM1, sIL6R, SAA, CRP, and sICAM1) were significantly elevated in T1D patients with MA...
2018: Frontiers in Immunology
https://www.readbyqxmd.com/read/29439624/telepractice-delivery-of-family-centred-early-intervention-for-children-who-are-deaf-or-hard-of-hearing-a-scoping-review
#11
Melissa McCarthy, Greg Leigh, Michael Arthur-Kelly
Introduction The use of telepractice, a method of delivering services through telecommunications technologies that provides two-way, synchronous audio and video signals in real-time, is becoming increasingly commonplace in early childhood education and intervention for children who are deaf or hard of hearing. Although the use of telepractice has been validated in the health sector as a viable and effective alternative to in-person service provision, evidence to support its use in the delivery of family-centred early intervention is still emerging...
January 1, 2018: Journal of Telemedicine and Telecare
https://www.readbyqxmd.com/read/29439034/complete-genome-sequences-of-three-fish-associated-streptococcus-agalactiae-isolates
#12
Anita Jaglarz, Artur Gurgul, William J Leigh, Janina Z Costa, Kim D Thompson
The whole-genome sequences are described here for three group B Streptococcus (GBS) ( S. agalactiae ) serotype Ib isolates obtained from tilapia ( Oreochromis niloticus ) farmed at sites in Honduras, Costa Rica, and the United States. The bacteria were isolated from the brains of fish displaying signs of streptococcosis.
February 8, 2018: Genome Announcements
https://www.readbyqxmd.com/read/29438039/blood-ocular-barrier-disruption-in-acute-stroke-patients
#13
Emi Hitomi, Alexis N Simpkins, Marie Luby, Lawrence L Latour, R John Leigh, Richard Leigh
OBJECTIVE: Prompted by the unexpected finding of gadolinium leakage into ocular structures (GLOS) in acute stroke patients, we studied the frequency and nature of this finding in 167 patients. METHODS: Patients were selected who had an MRI with gadolinium at baseline and another MRI with fluid-attenuated inversion recovery (FLAIR) imaging at 2 and/or 24 hours later. GLOS was detected as lack of vitreous and/or aqueous fluid suppression on postcontrast FLAIR images...
February 7, 2018: Neurology
https://www.readbyqxmd.com/read/29435959/hyperpalatability-and-the-generation-of-obesity-roles-of-environment-stress-exposure-and-individual-difference
#14
REVIEW
Sarah-Jane Leigh, Frances Lee, Margaret J Morris
PURPOSE OF REVIEW: This review investigates how exposure to palatable food and its associated cues alters appetite regulation and feeding behaviour to drive overeating and weight gain. RECENT FINDINGS: Both supraphysiological and physiological feeding systems are affected by exposure to palatable foods and its associated cues. Preclinical research, largely using rodents, has demonstrated that palatable food modulates feeding-related neural systems and food-seeking behaviour by recruiting the mesolimbic reward pathway...
February 13, 2018: Current Obesity Reports
https://www.readbyqxmd.com/read/29434478/neisseria-gonorrhoeae-induced-inflammatory-pyroptosis-in-human-macrophages-is-dependent-on-intracellular-gonococci-and-lipooligosaccharide
#15
Jessica Leigh Ritter, Caroline Attardo Genco
Neisseria gonorrhoeae, the human obligate pathogen responsible for the sexually transmitted disease gonorrhea, has evolved several mechanisms to evade the host immune response. One such mechanism is the modulation of host cell death pathways. In this study, we defined cell death pathways induced by N gonorrhoeae in human monocyte-derived macrophages (MDMs). In a dose-dependent manner, N gonorrhoeae stimulation of MDMs resulted in caspase 1 and 4-dependent cell deaths, indicative of canonical and noncanonical pyroptosis, respectively...
2018: Journal of Cell Death
https://www.readbyqxmd.com/read/29432184/profile-of-natasha-v-raikhel
#16
Leigh Cooper
No abstract text is available yet for this article.
February 5, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29429957/a-non-apoptotic-function-of-mcl-1-in-promoting-pluripotency-and-modulating-mitochondrial-dynamics-in-stem-cells
#17
Megan L Rasmussen, Leigh A Kline, Kyungho P Park, Natalya A Ortolano, Alejandra I Romero-Morales, Christin C Anthony, Kathryn E Beckermann, Vivian Gama
Human pluripotent stem cells (hPSCs) maintain a highly fragmented mitochondrial network, but the mechanisms regulating this phenotype remain unknown. Here, we describe a non-cell death function of the anti-apoptotic protein, MCL-1, in regulating mitochondrial dynamics and promoting pluripotency of stem cells. MCL-1 is induced upon reprogramming, and its inhibition or knockdown induces dramatic changes to the mitochondrial network as well as loss of the key pluripotency transcription factors, NANOG and OCT4...
January 31, 2018: Stem Cell Reports
https://www.readbyqxmd.com/read/29429571/ndufb8-mutations-cause-mitochondrial-complex-i-deficiency-in-individuals-with-leigh-like-encephalomyopathy
#18
Dorota Piekutowska-Abramczuk, Zahra Assouline, Lavinija Mataković, René G Feichtinger, Eliška Koňařiková, Elżbieta Jurkiewicz, Piotr Stawiński, Mirjana Gusic, Andreas Koller, Agnieszka Pollak, Piotr Gasperowicz, Joanna Trubicka, Elżbieta Ciara, Katarzyna Iwanicka-Pronicka, Dariusz Rokicki, Sylvain Hanein, Saskia B Wortmann, Wolfgang Sperl, Agnès Rötig, Holger Prokisch, Ewa Pronicka, Rafał Płoski, Giulia Barcia, Johannes A Mayr
Respiratory chain complex I deficiency is the most frequently identified biochemical defect in childhood mitochondrial diseases. Clinical symptoms range from fatal infantile lactic acidosis to Leigh syndrome and other encephalomyopathies or cardiomyopathies. To date, disease-causing variants in genes coding for 27 complex I subunits, including 7 mitochondrial DNA genes, and in 11 genes encoding complex I assembly factors have been reported. Here, we describe rare biallelic variants in NDUFB8 encoding a complex I accessory subunit revealed by whole-exome sequencing in two individuals from two families...
February 1, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29429206/-two-cases-of-ndufaf6-related-leigh-syndrome
#19
M Q Tian, L X Li, G Y Yang
No abstract text is available yet for this article.
February 2, 2018: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29426325/a-research-utilisation-framework-for-informing-global-health-and-development-policies-and-programmes
#20
Christine Kim, Rose Wilcher, Tricia Petruney, Kirsten Krueger, Leigh Wynne, Trinity Zan
A shift in the culture and practice of health and development research is required to maximise the real-world use of evidence by non-academic or non-research-oriented audiences. Many frameworks have been developed to guide and measure the research utilisation process, yet none have been widely applied. Some frameworks are simplified to an unrealistic linear representation while others are rendered overly complex and unusable in an attempt to capture all aspects of the research utilisation process. Additionally, many research utilisation frameworks have focused on the policy development process or within a clinical setting, with less application of the translation process at the programme level...
February 9, 2018: Health Research Policy and Systems
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