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https://www.readbyqxmd.com/read/28734274/genetic-analysis-of-iranian-patients-with-familial-hypercholesterolemia
#1
Mahdis Ekrami, Maryam Torabi, Soudeh Ghafouri-Fard, Javad Mowla, Bahram Mohammad Soltani, Feyzollah Hashemi-Gorji, Zahra Mohebbi, Mohammad Miryounesi
Background: Familial hypercholesterolemia (FH) is a frequent autosomal dominant disorder of lipoprotein metabolism. This disorder is generally caused by mutations in low-density lipoprotein receptor (LDLR), apolipoprotein B 100 (APOB), and proprotein convertase subtilisin/kexin type 9 (PCSK9) genes. In the present study, we aimed at identifying the common LDLR and APOB gene mutations in an Iranian population. Methods: Eighty unrelated Iranian patients with FH entered the study, based on Simon Broome diagnostic criteria...
July 23, 2017: Iranian Biomedical Journal
https://www.readbyqxmd.com/read/28734259/polishability-and-wear-resistance-of-splint-material-for-oral-appliances-produced-with-conventional-subtractive-and-additive-manufacturing
#2
Fabian Huettig, Achim Kustermann, Ebru Kuscu, Jürgen Geis-Gerstorfer, Sebastian Spintzyk
Occlusal splints to treat bruxism are commonly made from polymethylmethacrylate (PMMA) in a manual workflow (powder-liquid technique). Today digitalization allows a machine-based manufacturing in subtractive (milling) and additive (printing) means using industrial-made PMMA or comparable resins. An in-vitro study should assess the surface finish and screen the wear resistance of conventional and industrial materials. Therefore, a total of 30 specimens made from conventionally PMMA (group C; powder-liquid, Palapress), polycarbonate ingots (group S; innoBlanc splint plus), and light-curing resin (group A; VarseoWax splint) were polished to examine the surface roughness (Ra) by profilometry and further analyzed by SEM...
July 14, 2017: Journal of the Mechanical Behavior of Biomedical Materials
https://www.readbyqxmd.com/read/28734169/development-and-psychometric-validation-of-the-headache-screening-questionnaire-dutch-version
#3
Hedwig A van der Meer, Corine M Visscher, Raoul H H Engelbert, Wim M Mulleners, Maria W G Nijhuis-van der Sanden, Caroline M Speksnijder
BACKGROUND: Headache is a common disorder which may lead to substantial socio-economic loss. Treatment options include self-management strategies, medication and physiotherapy. Physiotherapists need to be able to screen for the presence of migraine and tension-type headache (TTH), so they can adjust their treatment strategies to the type of headache. A quick screening questionnaire to recognize migraine and TTH in the physiotherapy practice is needed. OBJECTIVE: The aim of this study was to create a headache screening questionnaire based on the ICHD-3 beta criteria for migraine and TTH, and to establish its content and criterion validity...
July 4, 2017: Musculoskeletal Science & Practice
https://www.readbyqxmd.com/read/28734162/extraction-and-in-vitro-screening-of-potential-acetylcholinesterase-inhibitors-from-the-leaves-of-panax-japonicus
#4
Sainan Li, Chengyu Liu, Chunming Liu, Yuchi Zhang
Ultrafiltration liquid chromatography-mass spectrometry (UFLC-MS) is an efficient method that can be applied to rapidly screen and identify ligands for acetylcholinesterase (AChE) from the leaves of Panax japonicus. Using this method, we identified 5 major compounds, chikusetsusaponins V, Ib, IV, IVa, and IVa ethyl ester, as potent AChE inhibitors, which were assessed for anti-Alzheimer disease activity using the PC12 cell model. A continuous online method, which consisted of microwave-assisted extraction, a solvent concentration tank, and centrifugal partition chromatography (MAE-SCT-CPC), was newly developed for scaled up production of these compounds with high purity and efficiency...
July 12, 2017: Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences
https://www.readbyqxmd.com/read/28734160/selective-and-accurate-c5-acylcarnitine-quantitation-by-uhplc-ms-ms-distinguishing-true-isovaleric-acidemia-from-pivalate-derived-interference
#5
Paul E Minkler, Maria S K Stoll, Stephen T Ingalls, Charles L Hoppel
Tandem MS acylcarnitine "profiles" are extremely valuable. Although used appropriately in newborn screening programs to identify patients with possible diseases, their inadequate quantitative accuracy and lack of selectivity is problematic for confirmatory testing. In this report, we show the application of our validated, selective, accurate, precise, and robust UHPLC-MS/MS method for quantitation of acylcarnitines, specifically to C5 acylcarnitines: pivaloyl-, 2-methylbutyryl-, isovaleryl-, and valerylcarnitine...
July 12, 2017: Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences
https://www.readbyqxmd.com/read/28734158/interaction-between-platelet-derived-micrornas-and-cyp2c19-2-genotype-on-clopidogrel-antiplatelet-responsiveness-in-patients-with-acs
#6
Li Peng, Jun Liu, Liuan Qin, Jia Liu, Shaozhi Xi, Caiyi Lu, Tong Yin
BACKGROUND: Both platelet-derived microRNAs and the genotype of CYP2C19*2 were implicated for the variability of clopidogrel antiplatelet responsiveness. However, their interaction on the antiplatelet responsiveness of clopidogrel in patients with acute coronary syndrome (ACS) remains unknown. METHODS: Consecutive clopidogrel-treated patients with ACS were recruited, with their antiplatelet responsiveness evaluated by the relative platelet inhibition (RI), as measured by light transmittance aggregometry (LTA) at baseline and 5days' after the maintenance treatment of clopidogrel...
July 13, 2017: Thrombosis Research
https://www.readbyqxmd.com/read/28734119/a-systematic-review-of-patient-oncofertility-support-needs-in-reproductive-cancer-patients-aged-14-to-45-years-of-age
#7
REVIEW
S Logan, J Perz, J M Ussher, M Peate, A Anazodo
OBJECTIVE: Decline in fertility potential brought about by a cancer diagnosis or cancer treatment is one of the biggest impacts to cancer patients' long term quality of life. As such, the current manuscript aimed to systematically review the literature on oncofertility support needs for cancer patients of a reproductive age (14-45 years of age). METHODS: A systematic review of the literature was conducted in May 2016 through the searching of electronic databases Medline, EMBASE, PSYCH Info, Web of Science and SCOPUS, alongside the screening of relevant reference lists...
July 22, 2017: Psycho-oncology
https://www.readbyqxmd.com/read/28732368/meta-analysis-of-micrornas-expression-in-head-and-neck-cancer-uncovering-association-with-outcome-and-mechanisms
#8
Joshua Lubov, Mariana Maschietto, Iman Ibrahim, Alex Mlynarek, Michael Hier, Luiz Paulo Kowalski, Moulay A Alaoui-Jamali, Sabrina Daniela da Silva
Head and neck squamous cell carcinoma (HNSCC) is often diagnosed at advanced stages, incurring significant high mortality and morbidity. This review explored the risk stratification of miRNAs, and investigated the impact of miRNA networking in HNSCC prognostication. We performed a meta-analysis and a systematic literature search on online databases for papers published prior to December 1, 2016. The list of miRNAs was uploaded to MetacoreTM to construct a protein-protein interaction network, which was used to identify targets of the miRNAs and potential drugs...
July 13, 2017: Oncotarget
https://www.readbyqxmd.com/read/28732364/a-novel-heterozygous-germline-deletion-in-msh2-gene-in-a-five-generation-chinese-family-with-lynch-syndrome
#9
Bin Wu, Wuyang Ji, Shengran Liang, Chao Ling, Yan You, Lai Xu, Min-Er Zhong, Yi Xiao, Hui-Zhong Qiu, Jun-Yang Lu, Santasree Banerjee
Lynch syndrome (LS) is one of the most common familial forms of colorectal cancer predisposing syndrome with an autosomal dominant mode of inheritance. LS is caused by the germline mutations in DNA mismatch repair (MMR) genes including MSH2, MLH1, MSH6and PMS2. Clinically, LS is characterized by high incidence of early-onset colorectal cancer as well as endometrial, small intestinal and urinary tract cancers, usually occur in the third to fourth decade of the life. Here we describe a five generation Chinese family with LS clinically diagnosed according to the Amsterdam II criteria...
July 14, 2017: Oncotarget
https://www.readbyqxmd.com/read/28732345/multichannel-electroanalytical-devices-for-competitive-elisa-of-phenylethanolamine-a
#10
Yang Liu, Meng Cai, Weiping Wu, Yuting Fang, Pei She, Shouming Xu, Jianguo Li, Kang Zhao, Jingjuan Xu, Ning Bao, Anping Deng
Herein, we reported a disposable electroanalytical device for competitive enzyme-linked immunosorbent assay (ELISA) of phenylethanolamine A (PA). Conductive carbon tape coated with gold cluster served as the working electrode, while the counter and reference electrodes were fabricated on the filter paper by the screen-printing technique. Separating fabrication of the working electrode from other electrodes could make it possible for full utilization of the working electrode modification in bulk and no contamination of the immune-reagents on the counter and reference electrodes...
April 11, 2017: Biosensors & Bioelectronics
https://www.readbyqxmd.com/read/28732343/an-ultrasensitive-electrochemical-biosensor-for-polynucleotide-kinase-assay-based-on-gold-nanoparticle-mediated-lambda-exonuclease-cleavage-induced-signal-amplification
#11
Lin Cui, Yueying Li, Mengfei Lu, Bo Tang, Chun-Yang Zhang
Polynucleotide kinase (PNK) plays an essential role in cellular nucleic acid metabolism and the cellular response to DNA damage. However, conventional methods for PNK assay suffer from low sensitivity and involve multiple steps. Herein, we develop a simply electrochemical method for sensitive detection of PNK activity on the basis of Au nanoparticle (AuNP)-mediated lambda exonuclease cleavage-induced signal amplification. We use [Ru(NH3)6](3+) as the electrochemically active indicator and design two DNA strands (i...
July 13, 2017: Biosensors & Bioelectronics
https://www.readbyqxmd.com/read/28732339/aryl-and-alkyl-phosphorus-containing-flame-retardants-induced-mitochondrial-impairment-and-cell-death-in-chinese-hamster-ovary-cho-k1-cells
#12
Chao Huang, Na Li, Shengwu Yuan, Xiaoya Ji, Mei Ma, Kaifeng Rao, Zijian Wang
Phosphorus-containing flame retardants (PFRs) are increasingly in demand worldwide as replacements for brominated flame retardants (BFRs), but insufficient available toxicological information on PFRs makes assessing their health risks challenging. Mitochondria are important targets of various environmental pollutants, and mitochondrial dysfunction may lead to many common diseases. In the present study, mitochondria impairment-related endpoints were measured by a high content screening (HCS) assay for 11 selected non-halogen PFRs in Chinese hamster ovary (CHO-k1) cells...
July 18, 2017: Environmental Pollution
https://www.readbyqxmd.com/read/28732272/screening-of-the-open-scaffolds-collection-from-compounds-australia-identifies-a-new-chemical-entity-with-anthelmintic-activities-against-different-developmental-stages-of-the-barber-s-pole-worm-and-other-parasitic-nematodes
#13
Sarah Preston, Yaqing Jiao, Jonathan B Baell, Jennifer Keiser, Simon Crawford, Anson V Koehler, Tao Wang, Moana M Simpson, Ray M Kaplan, Karla J Cowley, Kaylene J Simpson, Andreas Hofmann, Abdul Jabbar, Robin B Gasser
The discovery and development of novel anthelmintic classes is essential to sustain the control of socioeconomically important parasitic worms of humans and animals. With the aim of offering novel, lead-like scaffolds for drug discovery, Compounds Australia released the 'Open Scaffolds' collection containing 33,999 compounds, with extensive information available on the physicochemical properties of these chemicals. In the present study, we screened 14,464 prioritised compounds from the 'Open Scaffolds' collection against the exsheathed third-stage larvae (xL3s) of Haemonchus contortus using recently developed whole-organism screening assays...
May 28, 2017: International Journal for Parasitology, Drugs and Drug Resistance
https://www.readbyqxmd.com/read/28732246/inspiration-from-heart-development-biomimetic-development-of-functional-human-cardiac-organoids
#14
Dylan J Richards, Robert C Coyle, Yu Tan, Jia Jia, Kerri Wong, Katelynn Toomer, Donald R Menick, Ying Mei
Recent progress in human organoids has provided 3D tissue systems to model human development, diseases, as well as develop cell delivery systems for regenerative therapies. While direct differentiation of human embryoid bodies holds great promise for cardiac organoid production, intramyocardial cell organization during heart development provides biological foundation to fabricate human cardiac organoids with defined cell types. Inspired by the intramyocardial organization events in coronary vasculogenesis, where a diverse, yet defined, mixture of cardiac cell types self-organizes into functional myocardium in the absence of blood flow, we have developed a defined method to produce scaffold-free human cardiac organoids that structurally and functionally resembled the lumenized vascular network in the developing myocardium, supported hiPSC-CM development and possessed fundamental cardiac tissue-level functions...
July 12, 2017: Biomaterials
https://www.readbyqxmd.com/read/28732219/perioperative-systemic-corticosteroids-in-orthognathic-surgery-a-systematic-review-and-meta-analysis
#15
REVIEW
Simon Jean, Pierre-Luc Dionne, Carl Bouchard, Luc Giasson, Alexis F Turgeon
PURPOSE: Perioperative systemic corticosteroids are broadly used in orthognathic surgery to prevent postoperative complications, but it is unclear whether this practice is beneficial and concerns about potential side effects have been raised. The purpose of this systematic review and meta-analysis was to assess the effects of perioperative systemic corticosteroids on clinically important outcomes in patients undergoing orthognathic surgery. MATERIALS AND METHODS: The authors conducted a systematic review of randomized controlled trials evaluating the effect of systemic corticosteroids in orthognathic surgery compared with placebo or any other intervention...
June 24, 2017: Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28732207/a-crispr-resource-for-individual-combinatorial-or-multiplexed-gene-knockout
#16
Nicolas Erard, Simon R V Knott, Gregory J Hannon
We have combined a machine-learning approach with other strategies to optimize knockout efficiency with the CRISPR/Cas9 system. In addition, we have developed a multiplexed sgRNA expression strategy that promotes the functional ablation of single genes and allows for combinatorial targeting. These strategies have been combined to design and construct a genome-wide, sequence-verified, arrayed CRISPR library. This resource allows single-target or combinatorial genetic screens to be carried out at scale in a multiplexed or arrayed format...
July 20, 2017: Molecular Cell
https://www.readbyqxmd.com/read/28732199/catch-shiny-droplets-in-suspension-finding-the-needle-in-a-haystack
#17
Nina V Hein-Fuchs, Renate König
In a recent issue of Cell Chemical Biology, Chaipan et al. (2017) described a high-throughput screening methodology to identify epitopes on HIV-1 particles recognized by broadly neutralizing antibodies. The approach utilizes a droplet-based microfluidics platform combining robust phenotypic single-virus sorting with next-generation sequencing of viral quasispecies.
July 20, 2017: Cell Chemical Biology
https://www.readbyqxmd.com/read/28732198/primary-cell-phenotypic-screening-illuminates-adrs-and-aops
#18
Audrey J Bone, Keith A Houck
Preclinical, in vitro screening for adverse drug reactions continues to present challenges in the field of drug development. In this issue of Cell Chemical Biology, Shah et al. (2017) employ a phenotypic screening strategy using a panel of human primary cells to define a signature response and an adverse outcome pathway for delayed type IV skin hypersensitivity.
July 20, 2017: Cell Chemical Biology
https://www.readbyqxmd.com/read/28732184/high-throughput-identification-of-mir-596-inducing-p53-mediated-apoptosis-in-hela-and-hct116-cells-using-cell-microarray
#19
Ming Ma, Junyu Yang, Bolun Wang, Zhihua Zhao, Jianzhong Jeff Xi
miRNAs play a key role in the regulation of gene networks in mammalian cells. However, little is known about their roles and functions in the apoptosis pathway. Here, we conducted a whole-genome miRNA screening for apoptosis and identified more than 100 miRNAs as apoptosis inducers. To further explain the roles of these mRNAs in apoptosis, a second round of screening was conducted between p53 +/+ and -/- cells. Among the hits, miR-596 was identified as a regulator of p53. The overexpression of miR-596 significantly increased p53 at the protein level, thereby inducing apoptosis...
July 1, 2017: SLAS Technology
https://www.readbyqxmd.com/read/28732181/irf6-and-spry4-signaling-interact-in-periderm-development
#20
Y A Kousa, R Roushangar, N Patel, A Walter, P Marangoni, R Krumlauf, O D Klein, B C Schutte
Rare mutations in IRF6 and GRHL3 cause Van der Woude syndrome, an autosomal dominant orofacial clefting disorder. Common variants in IRF6 and GRHL3 also contribute risk for isolated orofacial clefting. Similarly, variants within genes that encode receptor tyrosine kinase (RTK) signaling components, including members of the FGF pathway, EPHA3 and SPRY2, also contribute risk for isolated orofacial clefting. In the mouse, loss of Irf6 or perturbation of Fgf signaling leads to abnormal oral epithelial adhesions and cleft palate...
July 1, 2017: Journal of Dental Research
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