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https://www.readbyqxmd.com/read/27933721/shared-molecular-networks-in-orofacial-and-neural-tube-development
#1
Youssef A Kousa, Tamer A Mansour, Haitham Seada, Samaneh Matoo, Brian C Schutte
BACKGROUND: Single genetic variants can affect multiple tissues during development. Thus it is possible that disruption of shared gene regulatory networks might underlie syndromic presentations. In this study, we explore this idea through examination of two critical developmental programs that control orofacial and neural tube development and identify shared regulatory factors and networks. Identification of these networks has the potential to yield additional candidate genes for poorly understood developmental disorders and assist in modeling and perhaps managing risk factors to prevent morbidly and mortality...
December 9, 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/27933679/supplementation-with-nutrients-modulating-insulin-like-growth-factor-1-negatively-correlated-with-changes-in-the-levels-of-pro-inflammatory-cytokines-in-community-dwelling-elderly-people-at-risk-of-undernutrition
#2
M Kim, M Kim, Y J Lee, H J Song, J K Shim, D H Chang, W K Yu, S-H Lee, J H Lee
BACKGROUND: Suboptimal nutrition accompanied by chronic low-grade increases in circulating cytokine levels is more common in elderly people. We explored the improvement in nutritional status, especially in the level of insulin-like growth factor-1 (IGF-1) and its relationship with changes in circulating cytokine levels, after providing extra protein and energy content to community-dwelling older adults at risk of undernutrition. METHODS: Sixty nondiabetic subjects, aged ≥65 years and living independently in a community for elderly people, with a serum pre-albumin level ≤30 mg dL(-1) and a body mass index <25 kg m(-2) , were recruited...
December 9, 2016: Journal of Human Nutrition and Dietetics: the Official Journal of the British Dietetic Association
https://www.readbyqxmd.com/read/27933671/causal-inference-in-obesity-research
#3
REVIEW
P W Franks, N Atabaki-Pasdar
Obesity is a risk factor for a plethora of severe morbidities and premature death. Most supporting evidence comes from observational studies that are prone to chance, bias and confounding. Even data on the protective effects of weight loss from randomized controlled trials will be susceptible to confounding and bias if treatment assignment cannot be masked, which is usually the case with lifestyle and surgical interventions. Thus, whilst obesity is widely considered the major modifiable risk factor for many chronic diseases, its causes and consequences are often difficult to determine...
December 8, 2016: Journal of Internal Medicine
https://www.readbyqxmd.com/read/27933582/microrna-181c-ameliorates-cognitive-impairment-induced-by-chronic-cerebral-hypoperfusion-in-rats
#4
Chen Fang, Qian Li, Guowen Min, Min Liu, Jing Cui, Jing Sun, Liang Li
Chronic cerebral hypoperfusion (CCH) characterized by global cerebral ischemia is an important risk factor contributing to the development of dementia. MicroRNAs (miRNAs) play important roles in the cellular adaptation to long-term ischemia/hypoxia by turning off or on the expression of target genes. MiR-181c is widely expressed in the nervous system, and tripartite motif 2 (TRIM2) is one of its target genes. In this work, we had identified that progressive spatial memory deficiency was induced in the bilateral common carotid artery occlusion (2-VO) rat models...
December 8, 2016: Molecular Neurobiology
https://www.readbyqxmd.com/read/27933557/atypical-presentation-and-treatment-response-in-a-child-with-familial-hypercholesterolemia-having-a-novel-ldlr-mutation
#5
S Varma, A D McIntyre, R A Hegele
Familial hypercholesterolemia (FH) is an autosomal codominantly inherited disease. The severity of clinical presentation depends on the zygosity of the mutations in the LDLR, APOB, or PCSK9 genes. The homozygous form (HoFH) is associated with high mortality rate by third decade of life, while individuals with HeFH begin to suffer from premature cardiovascular disease in fourth or fifth decade of life. Statin drugs have helped to improve the biochemical profile and life expectancy in HeFH, while they are only minimally effective in HoFH...
December 9, 2016: JIMD Reports
https://www.readbyqxmd.com/read/27933518/resources-for-systems-genetics
#6
Robert W Williams, Evan G Williams
A key characteristic of systems genetics is its reliance on populations that vary to a greater or lesser degree in genetic complexity-from highly admixed populations such as the Collaborative Cross and Diversity Outcross to relatively simple crosses such as sets of consomic strains and reduced complexity crosses. This protocol is intended to help investigators make more informed decisions about choices of resources given different types of questions. We consider factors such as costs, availability, and ease of breeding for common scenarios...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27933471/factors-associated-with-medication-non-adherence-in-patients-with-end-stage-liver-disease
#7
Selena Z Kuo, Marta Haftek, Jennifer C Lai
BACKGROUND: Low medication adherence is known to contribute to worse health outcomes in the general population. AIM: We aimed to evaluate the medication regimen and determine the adherence levels among patients with end-stage liver disease. METHODS: We measured adherence in patients awaiting liver transplantation at a single center using the 8-item Morisky Medication Adherence Scale (MMAS-8), with a score <8 classified as low adherence...
December 8, 2016: Digestive Diseases and Sciences
https://www.readbyqxmd.com/read/27933320/genetics-and-pathogenesis-of-idiopathic-scoliosis
#8
REVIEW
A Grauers, E Einarsdottir, P Gerdhem
Idiopathic scoliosis (IS), the most common spinal deformity, affects otherwise healthy children and adolescents during growth. The aetiology is still unknown, although genetic factors are believed to be important. The present review corroborates the understanding of IS as a complex disease with a polygenic background. Presumably IS can be due to a spectrum of genetic risk variants, ranging from very rare or even private to very common. The most promising candidate genes are highlighted.
2016: Scoliosis and Spinal Disorders
https://www.readbyqxmd.com/read/27933276/acinetobacter-baumannii-isolated-from-lebanese-patients-phenotypes-and-genotypes-of-resistance-clonality-and-determinants-of-pathogenicity
#9
Elias Dahdouh, Micheline Hajjar, Monica Suarez, Ziad Daoud
Introduction:Acinetobacter baumannii is a nosocomial pathogen that usually affects critically ill patients. High mortality rates have been associated with MDR A. baumannii infections. Carbapenem resistance among these isolates is increasing worldwide and is associated with certain International Clones (ICs) and oxacillinases (OXAs). Moreover, this organism possesses a wide range of virulence factors, whose expression is not yet fully understood. In this study, clinical A. baumannii isolates are characterized in terms of antibiotic resistance, mechanisms of carbapenem resistance, clonality, and virulence...
2016: Frontiers in Cellular and Infection Microbiology
https://www.readbyqxmd.com/read/27933145/ensuring-timely-thromboprophylaxis-on-a-medical-assessment-unit
#10
Oluwatosin Akinbobuyi, Louise Shalders, Tim Nokes
The Department of Health has defined hospital acquired venous thromboembolism (VTE) as any VTE event occurring within 90 days of hospital admission or surgery. (1) Hospital acquired thrombosis (HAT) is common during and after hospital admission and is considered a major patient safety issue. Current NICE guideline (CG 92) 2010, recommends that medical patients assessed at risk of VTE should have pharmacological prophylaxis commenced as soon as possible after risk assessment has been completed and continued until the patient is no longer at increased risk of VTE...
2016: BMJ Quality Improvement Reports
https://www.readbyqxmd.com/read/27933133/pre-operative-clinical-and-instrumental-factors-as-antireflux-surgery-outcome-predictors
#11
REVIEW
Salvatore Tolone, Giorgia Gualtieri, Edoardo Savarino, Marzio Frazzoni, Nicola de Bortoli, Manuele Furnari, Giuseppina Casalino, Simona Parisi, Vincenzo Savarino, Ludovico Docimo
Gastroesophageal reflux disease (GERD) is nowadays a highly prevalent, chronic condition, with 10% to 30% of Western populations affected by weekly symptoms. Many patients with mild reflux symptoms are treated adequately with lifestyle modifications, dietary changes, and low-dose proton pump inhibitors (PPIs). For those with refractory GERD poorly controlled with daily PPIs, numerous treatment options exist. Fundoplication is currently the most commonly performed antireflux operation for management of GERD...
November 27, 2016: World Journal of Gastrointestinal Surgery
https://www.readbyqxmd.com/read/27933105/prevalence-of-atrial-fibrillation-in-the-malaysian-communities
#12
Chiao Wen Lim, Sazzli Kasim, Johan Rizwal Ismail, Nicholas Yul Chye Chua, Rizmy Najme Khir, Hafisyatul Aiza Zainal Abidin, Effarezan Abdul Rahman, Mohd Kamal Mohd Arshad, Zubin Ibrahim Othman, Khalid Yusoff
BACKGROUND AND AIM: Atrial fibrillation (AF) is the most common sustained cardiac arrhythmia encountered in clinical practice. The REDISCOVER (Responding to Increasing Cardiovascular disease prevalence) study is an observational longitudinal community-based study that tracks changing lifestyles, risk factors and chronic disease in urban and rural areas of Malaysia. In this study, we aim to study the prevalence of AF and its associated risk factors. METHODS: The study was conducted between 2007 and 2014...
2016: Heart Asia
https://www.readbyqxmd.com/read/27933104/cardiovascular-disease-in-patients-with-chronic-kidney-disease-a-neglected-subgroup
#13
Arun Kumar Subbiah, Yogesh K Chhabra, Sandeep Mahajan
The burden of non-communicable diseases has increased exponentially over the past decade and they account for majority of the health-related morbidity and mortality worldwide. In line with this, the prevalence of chronic kidney disease (CKD) has been increasing over the years. CKD progresses through stages and it is well known that patients are more likely to die than to progress to end-stage renal disease. The presence of multiple classical and novel risk factors predisposes this group of patients to premature cardiovascular mortality...
2016: Heart Asia
https://www.readbyqxmd.com/read/27933071/stress-mediated-cis-element-transcription-factor-interactions-interconnecting-primary-and-specialized-metabolism-in-planta
#14
REVIEW
S A Sheshadri, M J Nishanth, Bindu Simon
Plant specialized metabolites are being used worldwide as therapeutic agents against several diseases. Since the precursors for specialized metabolites come through primary metabolism, extensive investigations have been carried out to understand the detailed connection between primary and specialized metabolism at various levels. Stress regulates the expression of primary and specialized metabolism genes at the transcriptional level via transcription factors binding to specific cis-elements. The presence of varied cis-element signatures upstream to different stress-responsive genes and their transcription factor binding patterns provide a prospective molecular link among diverse metabolic pathways...
2016: Frontiers in Plant Science
https://www.readbyqxmd.com/read/27932985/pregnane-x-receptor-pxr-mediated-gene-repression-and-cross-talk-of-pxr-with-other-nuclear-receptors-via-coactivator-interactions
#15
REVIEW
Petr Pavek
Pregnane X receptor is a ligand-activated nuclear receptor (NR) that mainly controls inducible expression of xenobiotics handling genes including biotransformation enzymes and drug transporters. Nowadays it is clear that PXR is also involved in regulation of intermediate metabolism through trans-activation and trans-repression of genes controlling glucose, lipid, cholesterol, bile acid, and bilirubin homeostasis. In these processes PXR cross-talks with other NRs. Accumulating evidence suggests that the cross-talk is often mediated by competing for common coactivators or by disruption of coactivation and activity of other transcription factors by the ligand-activated PXR...
2016: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/27932603/poststroke-depression-a-scientific-statement-for-healthcare-professionals-from-the-american-heart-association-american-stroke-association
#16
Amytis Towfighi, Bruce Ovbiagele, Nada El Husseini, Maree L Hackett, Ricardo E Jorge, Brett M Kissela, Pamela H Mitchell, Lesli E Skolarus, Mary A Whooley, Linda S Williams
Poststroke depression (PSD) is common, affecting approximately one third of stroke survivors at any one time after stroke. Individuals with PSD are at a higher risk for suboptimal recovery, recurrent vascular events, poor quality of life, and mortality. Although PSD is prevalent, uncertainty remains regarding predisposing risk factors and optimal strategies for prevention and treatment. This is the first scientific statement from the American Heart Association on the topic of PSD. Members of the writing group were appointed by the American Heart Association Stroke Council's Scientific Statements Oversight Committee and the American Heart Association's Manuscript Oversight Committee...
December 8, 2016: Stroke; a Journal of Cerebral Circulation
https://www.readbyqxmd.com/read/27932568/targeting-hif2-in-clear-cell-renal-cell-carcinoma
#17
Hyejin Cho, William G Kaelin
Inactivation of the von Hippel-Lindau tumor-suppressor protein (pVHL) is the signature "truncal" event in clear cell renal cell carcinoma, which is the most common form of kidney cancer. pVHL is part of a ubiquitin ligase the targets the α subunit of the hypoxia-inducible factor (HIF) transcription factor for destruction when oxygen is available. Preclinical studies strongly suggest that deregulation of HIF, and particularly HIF2, drives pVHL-defective renal carcinogenesis. Although HIF2α was classically considered undruggable, structural and chemical work by Rick Bruick and Kevin Gardner at University of Texas Southwestern laid the foundation for the development of small molecule direct HIF2α antagonists (PT2385 and the related tool compound PT2399) by Peloton Therapeutics that block the dimerization of HIF2α with its partner protein ARNT1...
December 8, 2016: Cold Spring Harbor Symposia on Quantitative Biology
https://www.readbyqxmd.com/read/27932482/patz1-down-regulates-fads1-by-binding-to-rs174557-and-is-opposed-by-sp1-srebp1c
#18
Gang Pan, Adam Ameur, Stefan Enroth, Madhusudhan Bysani, Helena Nord, Marco Cavalli, Magnus Essand, Ulf Gyllensten, Claes Wadelius
The FADS1 and FADS2 genes in the FADS cluster encode the rate-limiting enzymes in the synthesis of long-chain polyunsaturated fatty acids (LC-PUFAs). Genetic variation in this region has been associated with a large number of diseases and traits many of them correlated to differences in metabolism of PUFAs. However, the causative variants leading to these associations have not been identified. Here we find that the multiallelic rs174557 located in an AluYe5 element in intron 1 of FADS1 is functional and lies within a PATZ1 binding site...
December 8, 2016: Nucleic Acids Research
https://www.readbyqxmd.com/read/27932403/using-the-de-jong-gierveld-loneliness-scale-with-early-adolescents-factor-structure-reliability-stability-and-external-validity
#19
Paweł Grygiel, Grzegorz Humenny, Sławomir Rębisz
The present investigation is the first examination of the factor structures, reliability, external validity, longitudinal invariance, and stability of the De Jong Gierveld Loneliness Scale (DJGLS), as used with early adolescents. It is based on a two-wave, large, representative sample of Polish primary school pupils. The results demonstrate that the model most reflective of the factor structure of the DJGLS is the bifactor model, which assumes the occurrence of one, highly reliable, general factor (overall sense of loneliness) and two, relatively irrelevant, subfactors...
December 8, 2016: Assessment
https://www.readbyqxmd.com/read/27932345/comprehensive-cognitive-assessments-are-not-necessary-for-the-identification-and-treatment-of-learning-disabilities
#20
REVIEW
Jack M Fletcher, Jeremy Miciak
There is considerable controversy about the necessity of cognitive assessment as part of an evaluation for learning and attention problems. The controversy should be adjudicated through an evaluation of empirical research. We review five sources of evidence commonly provided as support for cognitive assessment as part of the learning disability (LD) identification process, highlighting significant gaps in empirical research and where existing evidence is insufficient to establish the reliability and validity of cognitive assessments used in this way...
December 8, 2016: Archives of Clinical Neuropsychology: the Official Journal of the National Academy of Neuropsychologists
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