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https://www.readbyqxmd.com/read/28645073/analysis-of-ldlr-variants-from-homozygous-fh-patients-carrying-multiple-mutations-in-the-ldlr-gene
#1
Long Jiang, Asier Benito-Vicente, Ling Tang, Aitor Etxebarria, Wei Cui, Kepa B Uribe, Xiao-Dong Pan, Helena Ostolaza, Shi-Wei Yang, Yu-Jie Zhou, Cesar Martin, Lu-Ya Wang
BACKGROUND AND AIMS: Familial hypercholesterolemia (FH) is an autosomal dominant disease with widespread global prevalence that partially accounts for the high prevalence of premature coronary heart disease. Although the majority of research on FH has focused on single heterozygous LDLR mutations, there have been limited reports of double LDLR mutations on the same chromosome. The aim of this study was to gain insight into the clinical consequences of the presence of multiple mutations in the LDLR gene...
June 8, 2017: Atherosclerosis
https://www.readbyqxmd.com/read/28645019/using-network-screening-methods-to-determine-locations-with-specific-safety-issues-a-design-consistency-case-study
#2
Andrew J Butsick, Jonathan S Wood, Paul P Jovanis
The Highway Safety Manual provides multiple methods that can be used to identify sites with promise (SWiPs) for safety improvement. However, most of these methods cannot be used to identify sites with specific problems. Furthermore, given that infrastructure funding is often specified for use related to specific problems/programs, a method for identifying SWiPs related to those programs would be very useful. This research establishes a method for Identifying SWiPs with specific issues. This is accomplished using two safety performance functions (SPFs)...
June 20, 2017: Accident; Analysis and Prevention
https://www.readbyqxmd.com/read/28644948/traumatic-buccal-fat-pad-herniation-in-young-children-a-systematic-review-and-case-report
#3
Seon-Yeong Kim, Angenine Alfafara, Jin-Woo Kim, Sun-Jong Kim
PURPOSE: Traumatic herniation of a buccal fat pad, predominantly seen in young children, is a rare condition. Because of its rarity and clinical features that resemble tumors, clinicians are faced with challenges at the initial diagnosis. This report describes a case of buccal fat pad herniation with excellent long-term prognosis after surgical relocation and conservative treatment and presents a systematic review of the literature on its management. MATERIALS AND METHODS: Through a PubMed search, 811 articles were initially identified...
May 30, 2017: Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28644898/spatio-temporal-orientation-of-microtubules-controls-conical-cell-shape-in-arabidopsis-thaliana-petals
#4
Huibo Ren, Xie Dang, Xianzhi Cai, Peihang Yu, Yajun Li, Shanshan Zhang, Menghong Liu, Binqing Chen, Deshu Lin
The physiological functions of epidermal cells are largely determined by their diverse morphologies. Most flowering plants have special conical-shaped petal epidermal cells that are thought to influence light capture and reflectance, and provide pollinator grips, but the molecular mechanisms controlling conical cell shape remain largely unknown. Here, we developed a live-confocal imaging approach to quantify geometric parameters of conical cells in Arabidopsis thaliana (A.thaliana). Through genetic screens, we identified katanin (KTN1) mutants showing a phenotype of decreased tip sharpening of conical cells...
June 23, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28644734/high-throughput-phenotypic-screening-of-kinase-inhibitors-to-identify-drug-targets-for-polycystic-kidney-disease
#5
Tijmen H Booij, Hester Bange, Wouter N Leonhard, Kuan Yan, Michiel Fokkelman, Steven J Kunnen, Johannes G Dauwerse, Yu Qin, Bob van de Water, Gerard J P van Westen, Dorien J M Peters, Leo S Price
Polycystic kidney disease (PKD) is a prevalent disorder characterized by renal cysts that lead to kidney failure. Various signaling pathways have been targeted to stop disease progression, but most interventions still focus on alleviating PKD-associated symptoms. The mechanistic complexity of the disease, as well as the lack of functional in vitro assays for compound testing, has made drug discovery for PKD challenging. To identify modulators of PKD, Pkd1(-/-) kidney tubule epithelial cells were applied to a scalable and automated 3D cyst culture model for compound screening, followed by phenotypic profiling to determine compound efficacy...
June 1, 2017: SLAS Discovery
https://www.readbyqxmd.com/read/28644679/success-of-university-student-volunteers-in-obtaining-consent-for-reviewing-private-health-information-for-emergency-research
#6
Adam I Kramer, Elizabeth Stephenson, Adam Betel, Johanna Crudden, Kathy Boutis
OBJECTIVES: This study aimed to determine the success of university student volunteers in obtaining consent from parents to allow review of their child's personal health information (PHI) for emergency research screening. This study also aimed to examine the variables associated with successful consent. METHODS: This was a prospective cross-sectional study conducted at a pediatric emergency department (ED). University students, who functioned as delegates of the health information custodian, approached parents for consent...
June 23, 2017: Accountability in Research
https://www.readbyqxmd.com/read/28644678/professional-athletes-return-to-play-and-performance-after-operative-repair-of-an-achilles-tendon-rupture
#7
David P Trofa, J Chance Miller, Eugene S Jang, Denzel R Woode, Justin K Greisberg, J Turner Vosseller
BACKGROUND: Most Achilles tendon ruptures are sports related. However, few studies have examined and compared the effect of surgical repair for complete ruptures on return to play (RTP), play time, and performance across multiple sports. PURPOSE: To examine RTP and performance among professional athletes after Achilles tendon repair and compare pre- versus postoperative functional outcomes of professional athletes from different major leagues in the United States...
June 1, 2017: American Journal of Sports Medicine
https://www.readbyqxmd.com/read/28644548/repetitive-peripheral-magnetic-stimulation-for-activities-of-daily-living-and-functional-ability-in-people-after-stroke
#8
REVIEW
Ryo Momosaki, Naoki Yamada, Erika Ota, Masahiro Abo
BACKGROUND: Repetitive peripheral magnetic stimulation (rPMS) is a form of therapy that creates painless stimulation of deep muscle structures to improve motor function in people with physical impairment from brain or nerve disorders. Use of rPMS for people after stroke has been identified as a feasible approach to improve activities of daily living and functional ability. However, no systematic reviews have assessed the findings of available trials. The effect and safety of this intervention for people after stroke currently remain uncertain...
June 23, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28644418/new-mt%C3%A2-melatonin-receptor-selective-ligands-agonists-and-partial-agonists
#9
Jean A Boutin, Anne Bonnaud, Chantal Brasseur, Olivier Bruno, Nolwenn Lepretre, Peter Oosting, Sophie Coumailleau, Philippe Delagrange, Olivier Nosjean, Céline Legros
The search for melatonin receptor agonists and antagonists specific towards one of the receptor subtypes will extend our understanding of the role of this system in relaying circadian information to the body. A series of compounds derived from a hit compound discovered in a screening process led to powerful agonists specific for one of the isoform of the melatonin receptor namely, MT₂. The compounds are based on a poorly explored skeleton in the molecular pharmacology of melatonin. By changing the steric hindrance of one substituent (i...
June 23, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28643780/voltage-controlled-interfacial-magnetism-through-platinum-orbits
#10
Shinji Miwa, Motohiro Suzuki, Masahito Tsujikawa, Kensho Matsuda, Takayuki Nozaki, Kazuhito Tanaka, Takuya Tsukahara, Kohei Nawaoka, Minori Goto, Yoshinori Kotani, Tadakatsu Ohkubo, Frédéric Bonell, Eiiti Tamura, Kazuhiro Hono, Tetsuya Nakamura, Masafumi Shirai, Shinji Yuasa, Yoshishige Suzuki
Electric fields at interfaces exhibit useful phenomena, such as switching functions in transistors, through electron accumulations and/or electric dipole inductions. We find one potentially unique situation in a metal-dielectric interface in which the electric field is atomically inhomogeneous because of the strong electrostatic screening effect in metals. Such electric fields enable us to access electric quadrupoles of the electron shell. Here we show, by synchrotron X-ray absorption spectroscopy, electric field induction of magnetic dipole moments in a platinum monatomic layer placed on ferromagnetic iron...
June 23, 2017: Nature Communications
https://www.readbyqxmd.com/read/28643576/sensory-organization-test-principally-reflects-utricular-function
#11
Jia Liu, Renhong Zhou, Bo Liu, Yangming Leng, Jingjing Liu, Dongdong Liu, Su-Lin Zhang, Wei-Jia Kong
CONCLUSION: Our study showed that sensory organization test (SOT) could principally reflect utricular function, and our cut-score of VEST ratio (the indicator of inputs from the vestibular system in balance performance) in SOT could help to screen patients with unilateral peripheral vestibular dysfunction in non-fallers. OBJECTIVES: We aimed to know SOT reflects the function of which vestibular end organs and to assess the possibility of screening patients with peripheral vestibular dysfunction in non-fall population by means of SOT...
June 23, 2017: Acta Oto-laryngologica
https://www.readbyqxmd.com/read/28643453/small-molecule-inhibitors-of-the-tumor-suppressor-fhit
#12
Andreas Marx, Sandra Lange, Stephan Hacker, Philipp Schmid, Martin Scheffner
The tumor suppressor Fhit and its substrate diadenosine triphosphate (Ap3A) are important factors in cancer development and progression. Fhit has Ap3A hydrolase activity and cleaves Ap3A into adenosine monophosphate (AMP) and adenosine diphosphate (ADP) which is believed to terminate Fhit-mediated signaling. How the catalytic activity of Fhit is regulated and how the Fhit-Ap3A complex exerts its growth-suppressive function remain to be discovered. Small molecule inhibitors of the enzymatic activity of Fhit would provide valuable tools for the elucidation of its tumor-suppressive functions...
June 23, 2017: Chembiochem: a European Journal of Chemical Biology
https://www.readbyqxmd.com/read/28643307/-application-of-magnetic-resonance-in-non-operative-treatment-strategy-for-rectal-cancer
#13
Yi Wang, Gong Chen
The primary curative modality for localized rectal cancer is total mesorectal excision (TME). Local control rate of rectal cancer has been improved after neoadjuvant chemoradiotherapy and even pathological complete response (pCR) has been demonstrated in a significant minority. Patients who achieve pCR to neoadjuvant chemoradiotherapy have an excellent prognosis compared with those without pCR. If the patients with complete response to neoadjuvant chemoradiation can be demonstrated by clinical findings and medical imaging (cCR), a non-operative management (NOM) strategy may be pursued to preserve sphincter function and avoid complications induced by TME, which is a new tendency in the treatment of rectal cancer in recent years...
June 25, 2017: Zhonghua Wei Chang Wai Ke za Zhi, Chinese Journal of Gastrointestinal Surgery
https://www.readbyqxmd.com/read/28643176/a-promising-tool-in-retina-regeneration-current-perspectives-and-challenges-when-using-mesenchymal-progenitor-stem-cells-in-veterinary-and-human-ophthalmological-applications
#14
REVIEW
Anna Cislo-Pakuluk, Krzysztof Marycz
Visual impairment is a common ailment of the current world population, with more exposure to CCD screens and fluorescent lighting, approximately 285 billion people suffer from this deficiency and 13% of those are considered clinically blind. More common causes for visual impairment include age-related macular degeneration (AMD), glaucoma and diabetic retinopathy (Zhu et al. Molecular Medicine Reports, 2015; Kolb et al. 2007; Machalińska et al. Current Eye Research, 34(9),748-760, 2009) among a few. As cases of retinal and optic nerve diseases rise, it is vital to find a treatment, which has led to investigation of the therapeutic potential of various stem cells types (Bull et al...
June 22, 2017: Stem Cell Reviews
https://www.readbyqxmd.com/read/28642961/female-sexual-dysfunction-with-combined-oral-contraceptive-use
#15
Jean Jasmin M L Lee, Thiam Chye Tan, Seng Bin Ang
Combined oral contraceptive pills (COCs) remain one of the most popular forms of contraception to prevent unwanted pregnancy in women. While it is known that COCs can cause sexual dysfunction in women, there is currently no recommendation to screen for sexual function before and after initiation of COCs. We propose that, based on the evidence available, assessment of sexual function should be done at initiation of COCs, as well as at regular intervals thereafter. This would allow COC-related sexual dysfunction to be managed early, such as by switching the patient to newer-generation COCs or other forms of contraception...
June 2017: Singapore Medical Journal
https://www.readbyqxmd.com/read/28642766/high-throughput-screening-method-for-identifying-potential-agonists-and-antagonists-of-arabidopsis-thaliana-cytokinin-receptor-cre1-ahk4
#16
Pavel Klimeš, Dušan Turek, Pavel Mazura, Lucia Gallová, Lukáš Spíchal, Břetislav Brzobohatý
The CRE1/AHK4 cytokinin receptor is an important component of plants' hormone signaling systems, and compounds that can alter its activity have potential utility for studying the receptor's functions and/or developing new plant growth regulators. A high throughput method was developed for screening compounds with agonist or antagonist properties toward the CRE1/AHK4 cytokinin receptor in a single experiment using the Nanodrop II liquid handling system and 384-well plates. Potential ligands are screened directly, using a reporter system in which receptor signaling activity triggers expression of β-galactosidase in Escherichia coli...
2017: Frontiers in Plant Science
https://www.readbyqxmd.com/read/28642679/assessment-of-ipsilateral-efferent-effects-in-human-via-ecochg
#17
Eric Verschooten, Elizabeth A Strickland, Nicolas Verhaert, Philip X Joris
Development of electrophysiological means to assess the medial olivocochlear (MOC) system in humans is important to further our understanding of the function of that system and for the refinement and validation of psychoacoustical and otoacoustic emission methods which are thought to probe the MOC. Based on measurements in anesthetized animals it has been hypothesized that the MOC-reflex (MOCR) can enhance the response to signals in noise, and several lines of evidence support such a role in humans. A difficulty in these studies is the isolation of efferent effects...
2017: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/28642110/pedf-plus-dha-modulate-inflammation-and-stimulate-nerve-regeneration-after-hsv-1-infection
#18
Jiucheng He, Donna Neumann, Azucena Kakazu, Thang Luong Pham, Farhana Musarrat, M Soledad Cortina, Haydee E P Bazan
Herpes simplex virus type-1 (HSV-1) infection leads to impaired corneal sensation and, in severe cases, to corneal ulceration, melting and perforation. Here, we explore the potential therapeutic action of pigment epithelial-derived factor (PEDF) plus docosahexaenoic acid (DHA) on corneal inflammation and nerve regeneration following HSV-1 infection. Rabbits inoculated with 100,000 PFU/eye of HSV-1 strain 17Syn+ were treated with PEDF + DHA or vehicle. PEDF + DHA treatment resulted in a biphasic immune response with stronger infiltration of CD4+T cells, neutrophils and macrophages at 7-days post-treatment (p...
June 19, 2017: Experimental Eye Research
https://www.readbyqxmd.com/read/28642069/chronic-choline-supplementation-improves-cognitive-and-motor-performance-via-modulating-oxidative-and-neurochemical-status-in-rats
#19
Saiqa Tabassum, Saida Haider, Saara Ahmad, Syeda Madiha, Tahira Parveen
Choline, an essential nutrient, accounts for multiple functions in the body and brain. While its beneficial effects on healthy adults are not clear, choline supplementation is important during pregnancy for brain development, in elderly patients for support of cognitive performance and in patients with neurological disorders to reduce memory deficits. Thus, the aim of this study is to investigate whether choline administration in healthy adult rats beneficially impacts cognitive and locomotor performance, and associated oxidative and neurochemical outcomes...
June 19, 2017: Pharmacology, Biochemistry, and Behavior
https://www.readbyqxmd.com/read/28642062/lrh-1-senses-signaling-from-phosphatidylcholine-to-regulate-the-expansion-growth-of-digestive-organs-via-synergy-with-wnt-%C3%AE-catenin-signaling-in-zebrafish
#20
Gang Zhai, Jia Song, Tingting Shu, Junjun Yan, Xia Jin, Jiangyan He, Zhan Yin
Liver receptor homolog-1 (LRH-1) is an orphan nuclear receptor that is critical for the growth and proliferation of cancer cells and other biological processes, including lipid transportation and metabolism, sexual determination and steroidogenesis. However, because homozygous lrh-1(-/-) mice die in utero, the regulatory mechanisms involved in embryonic development mediated by this receptor are poorly understood. In the present study, we performed transcription activator-like effector nuclease (TALEN)-mediated loss-of-function assays, taking advantage of zebrafish external fertilization, to investigate the function of lrh-1...
April 27, 2017: Journal of Genetics and Genomics, Yi Chuan Xue Bao
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