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https://www.readbyqxmd.com/read/28346953/lennox-gastaut-syndrome-a-state-of-the-art-review
#1
Mario Mastrangelo
Lennox-Gastaut syndrome (LGS) is a severe age-dependent epileptic encephalopathy usually with onset between 1 and 8 years of age. Functional neuroimaging studies recently introduced the concept of Lennox-Gastaut as "secondary network epilepsy" resulting from dysfunctions of a complex system involving both cortical and subcortical structures (default-mode network, corticoreticular connections, and thalamus). These dysfunctions are produced by different disorders including hypoxic-ischemic encephalopathies, meningoencephalitis, cortical malformations, neurocutaneous disorders, or tumors...
March 27, 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28346930/enzymes-in-human-milk
#2
David C Dallas, J Bruce German
Milk proteins are a complex and diverse source of biological activities. Beyond their function, intact milk proteins also act as carriers of encrypted functional sequences that, when released as peptides, exert biological functions, including antimicrobial and immunomodulatory activity, which could contribute to the infant's competitive success. Research has now revealed that the release of these functional peptides begins within the mammary gland itself. A complex array of proteases produced in mother's milk has been shown to be active in the milk, releasing these peptides...
2017: Nestlé Nutrition Institute Workshop Series
https://www.readbyqxmd.com/read/28346479/rare-variants-in-fox-1-homolog-a-rbfox1-are-associated-with-lower-blood-pressure
#3
Karen Y He, Heming Wang, Brian E Cade, Priyanka Nandakumar, Ayush Giri, Erin B Ware, Jeffrey Haessler, Jingjing Liang, Jennifer A Smith, Nora Franceschini, Thu H Le, Charles Kooperberg, Todd L Edwards, Sharon L R Kardia, Xihong Lin, Aravinda Chakravarti, Susan Redline, Xiaofeng Zhu
Many large genome-wide association studies (GWAS) have identified common blood pressure (BP) variants. However, most of the identified BP variants do not overlap with the linkage evidence observed from family studies. We thus hypothesize that multiple rare variants contribute to the observed linkage evidence. We performed linkage analysis using 517 individuals in 130 European families from the Cleveland Family Study (CFS) who have been genotyped on the Illumina OmniExpress Exome array. The largest linkage peak was observed on chromosome 16p13 (MLOD = 2...
March 27, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28346466/common-and-rare-exonic-muc5b-variants-associated-with-type-2-diabetes-in-han-chinese
#4
Guanjie Chen, Zhenjian Zhang, Sally N Adebamowo, Guozheng Liu, Adebowale Adeyemo, Yanxun Zhou, Ayo P Doumatey, Chuntao Wang, Jie Zhou, Wenqiang Yan, Daniel Shriner, Fasil Tekola-Ayele, Amy R Bentley, Congqing Jiang, Charles N Rotimi
Genome-wide association studies have identified over one hundred common genetic risk variants associated with type 2 diabetes (T2D). However, most of the heritability of T2D has not been accounted for. In this study, we investigated the contribution of rare and common variants to T2D susceptibility by analyzing exome array data in 1,908 Han Chinese genotyped with Affymetrix Axiom® Exome Genotyping Arrays. Based on the joint common and rare variants analysis of 57,704 autosomal SNPs within 12,244 genes using Sequence Kernel Association Tests (SKAT), we identified significant associations between T2D and 25 variants (9 rare and 16 common) in MUC5B, p-value 1...
2017: PloS One
https://www.readbyqxmd.com/read/28346444/genetic-variants-associated-with-mosaic-y-chromosome-loss-highlight-cell-cycle-genes-and-overlap-with-cancer-susceptibility
#5
Daniel J Wright, Felix R Day, Nicola D Kerrison, Florian Zink, Alexia Cardona, Patrick Sulem, Deborah J Thompson, Svanhvit Sigurjonsdottir, Daniel F Gudbjartsson, Agnar Helgason, J Ross Chapman, Steve P Jackson, Claudia Langenberg, Nicholas J Wareham, Robert A Scott, Unnur Thorsteindottir, Ken K Ong, Kari Stefansson, John R B Perry
The Y chromosome is frequently lost in hematopoietic cells, which represents the most common somatic alteration in men. However, the mechanisms that regulate mosaic loss of chromosome Y (mLOY), and its clinical relevance, are unknown. We used genotype-array-intensity data and sequence reads from 85,542 men to identify 19 genomic regions (P < 5 × 10(-8)) that are associated with mLOY. Cumulatively, these loci also predicted X chromosome loss in women (n = 96,123; P = 4 × 10(-6)). Additional epigenome-wide methylation analyses using whole blood highlighted 36 differentially methylated sites associated with mLOY...
March 27, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28346377/impact-of-beamforming-on-the-path-connectivity-in-cognitive-radio-ad-hoc-networks
#6
Le The Dung, Tran Dinh Hieu, Seong-Gon Choi, Byung-Seo Kim, Beongku An
This paper investigates the impact of using directional antennas and beamforming schemes on the connectivity of cognitive radio ad hoc networks (CRAHNs). Specifically, considering that secondary users use two kinds of directional antennas, i.e., uniform linear array (ULA) and uniform circular array (UCA) antennas, and two different beamforming schemes, i.e., randomized beamforming and center-directed to communicate with each other, we study the connectivity of all combination pairs of directional antennas and beamforming schemes and compare their performances to those of omnidirectional antennas...
March 27, 2017: Sensors
https://www.readbyqxmd.com/read/28346352/doa-estimation-of-coherent-signals-on-coprime-arrays-exploiting-fourth-order-cumulants
#7
Yang Hu, Yimin Liu, Xiqin Wang
This paper considers the problem of direction-of-arrival (DOA) estimation of coherent signals on passive coprime arrays, where we resort to the fourth-order cumulants of the received signal to explore more information. A fourth-order cumulant matrix (FCM) is introduced for the coprime array. The special structure of the FCM is combined with the array configuration to resolve the coherent signals. Since each sparse array of a coprime array is uniform, a series of overlapping identical subarrays can be extracted...
March 25, 2017: Sensors
https://www.readbyqxmd.com/read/28346213/development-and-application-of-a-high-performance-liquid-chromatography-stability-indicating-assay-for-beyond-use-date-determination-of-compounded-topical-gels-containing-multiple-active-drugs
#8
Gregory Gorman, Simara Sokom, Lori Coward, John J Arnold
Topical gels compounded by pharmacists are important clinical tools for the management of pain. Nevertheless, there is often a dearth of information about the chemical stability of drugs included in these topical formulations, complicating the assignment of beyond-use dating. The purpose of this study was to develop a high-performance liquid chromatography photodiode array-based stability-indicating assay that could simultaneously resolve six drugs (amitriptyline, baclofen, clonidine, gabapentin, ketoprofen, lidocaine) commonly included in topical gels for pain management and their potential degradation products...
March 2017: International Journal of Pharmaceutical Compounding
https://www.readbyqxmd.com/read/28346211/stability-of-two-antifungal-agents-fluconazole-and-miconazole-compounded-in-humco-recura-topical-cream-to-determine-beyond-use-date
#9
Pradeep Gautam, Bob Light, Troy Purvis
A novel compounding vehicle (RECURA) has previously been proven to penetrate the nail bed when compounded with the antifungal agent miconazole or fluconazole, providing for an effective treatment for onychomycosis. In this study, miconazole and fluconazole were compounded separately in RECURA compounding cream, and they were tested at different time points (0, 7, 14, 28, 45, 60, 90, and 180 days) to determine the beyond-use date of those formulations. The beyond-use date testing of both formulations (10% miconazole in RECURA and 10% fluconazole in RECURA) proved them to be physically, chemically, and microbiologically stable under International Conference of Harmonisation controlled room temperature (25°C ± 2°C/60% RH ±5%) for at least 180 days from the date of compounding...
March 2017: International Journal of Pharmaceutical Compounding
https://www.readbyqxmd.com/read/28346068/institutional-profile-university-of-florida-health-personalized-medicine-program
#10
Larisa H Cavallari, Kristin W Weitzel, Amanda R Elsey, Xinyue Liu, Scott A Mosley, Donald M Smith, Benjamin J Staley, Almut G Winterstein, Carol A Mathews, Francesco Franchi, Fabiana Rollini, Dominick J Angiolillo, Petr Starostik, Michael J Clare-Salzler, David R Nelson, Julie A Johnson
The University of Florida (UF) Health Personalized Medicine Program launched in 2012 with CYP2C19 genotyping for clopidogrel response at UF Health Shands Hospital. We have since expanded CYP2C19 genotyping to UF Health Jacksonville and established the infrastructure at UF Health to support clinical implementation for five additional gene-drug pairs: TPMT-thiopurines, IFNL3 (IL28B)-PEG IFN-α-based regimens, CYP2D6-opioids, CYP2D6/CYP2C19-antidepressants and CYP2C19-proton pump inhibitors. We are contributing to the evidence based on outcomes with genotype-guided therapy through pragmatic studies of our clinical implementations...
March 27, 2017: Pharmacogenomics
https://www.readbyqxmd.com/read/28346012/lymphangiogenesis-fuel-smoke-or-extinguisher-of-inflammation-s-fire
#11
Gabriella R Abouelkheir, Bradley D Upchurch, Joseph M Rutkowski
Lymphangiogenesis is a recognized hallmark of inflammatory processes in tissues and organs as diverse as the skin, heart, bowel, and airways. In clinical and animal models wherein the signaling processes of lymphangiogenesis are manipulated, most studies demonstrate that an expanded lymphatic vasculature is necessary for the resolution of inflammation. The fundamental roles that lymphatics play in fluid clearance and immune cell trafficking from the periphery make these results seemingly obvious as a mechanism of alleviating locally inflamed environments: the lymphatics are simply providing a drain...
April 2017: Experimental Biology and Medicine
https://www.readbyqxmd.com/read/28345801/zc4h2-deletions-can-cause-severe-phenotype-in-female-carriers
#12
Cristina Zanzottera, Donatella Milani, Enrico Alfei, Ambra Rizzo, Stefano D'Arrigo, Susanna Esposito, Chiara Pantaleoni
ZC4H2 is involved in human brain development, and, if mutated, can be responsible for a rare X-linked disorder, originally presented in literature as Wieacker-Wolff syndrome and Miles-Carpenter syndrome. In males, severe intellectual disability is associated with variable symptoms of central and peripheral nervous system involvement, such as spasticity, hyperreflexia, muscle weakness, and arthrogryposis. Female carriers are usually described as asymptomatic or only mildly affected. Here, we report on a girl carrying a de novo deletion of ZC4H2 detected by array-CGH analysis...
March 27, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28345786/a-de-novo-nonsense-mutation-in-zbtb18-plus-a-de-novo-15q13-3-microdeletion-in-a-6-year-old-female
#13
Nadja Ehmke, Sylvio Karge, Johannes Buchmann, Dirk Korinth, Denise Horn, Olaf Reis, Frank Häßler
ZBTB18 has been proposed as candidate gene for microcephaly and abnormalities of the corpus callosum based on overlapping microdeletions of 1q43q44. More recently, de novo mutations of ZBTB18 have been identified in patients with syndromic and non-syndromic intellectual disability. Heterozygous microdeletions of 15q13.3 encompassing the candidate gene CHRNA7 are associated with developmental delay or intellectual disability with speech problems, hypotonia, and seizures. They are characterized by significant variability and reduced penetrance...
March 27, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28345764/the-tarsal-metatarsal-complex-of-caviomorph-rodents-anatomy-and-functional-adaptive-analysis
#14
Adriana M Candela, Nahuel A Muñoz, César M García-Esponda
Caviomorph rodents represent a major adaptive radiation of Neotropical mammals. They occupy a variety of ecological niches, which is also reflected in their wide array of locomotor behaviors. It is expected that this radiation would be mirrored by an equivalent disparity of tarsal-metatarsal morphology. Here, the tarsal-metatarsal complex of Erethizontidae, Cuniculidae, Dasyproctidae, Caviidae, Chinchillidae, Octodontidae, Ctenomyidae, and Echimyidae was examined, in order to evaluate its anatomical variation and functional-adaptive relevance in relation to locomotor behaviors...
March 27, 2017: Journal of Morphology
https://www.readbyqxmd.com/read/28345691/surface-plasmon-resonance-imaging-for-abh-antigen-detection-on-red-blood-cells-and-in-saliva-secretor-status-related-abo-subgroup-identification
#15
Patjaree Peungthum, Krisda Sudprasert, Ratthasart Amarit, Armote Somboonkaew, Boonsong Sutapun, Apirom Vongsakulyanon, Wuttigrai Seedacoon, Pimpun Kitpoka, Mongkol Kunakorn, Toemsak Srikhirin
Low antigenic expression of ABO subgroup system on red blood cell (RBC) is cause of discrepancy between forward and reverse blood typing in the standard agglutination technique. Neutralization agglutination is employed for verification of the detection of ABH substances in saliva. However, the neutralization technique is complicated, time-consuming and requires expertise. To overcome these drawbacks, surface plasmon resonance (SPR) imaging was developed for ABH antigen detection on RBCs and in saliva. An antibody array was designed to classify the ABO subgroups by anti-A, anti-B, and anti-H antibodies; the array was immobilized on a carboxymethyl-dextran sensor-surface...
March 27, 2017: Analyst
https://www.readbyqxmd.com/read/28345641/iii-nitride-core-shell-nanorod-array-on-quartz-substrates
#16
Si-Young Bae, Jung-Wook Min, Hyeong-Yong Hwang, Kaddour Lekhal, Ho-Jun Lee, Young-Dahl Jho, Dong-Seon Lee, Yong-Tak Lee, Nobuyuki Ikarashi, Yoshio Honda, Hiroshi Amano
We report the fabrication of near-vertically elongated GaN nanorods on quartz substrates. To control the preferred orientation and length of individual GaN nanorods, we combined molecular beam epitaxy (MBE) with pulsed-mode metal-organic chemical vapor deposition (MOCVD). The MBE-grown buffer layer was composed of GaN nanograins exhibiting an ordered surface and preferred orientation along the surface normal direction. Position-controlled growth of the GaN nanorods was achieved by selective-area growth using MOCVD...
March 27, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28345637/rattusin-structure-reveals-a-novel-defensin-scaffold-formed-by-intermolecular-disulfide-exchanges
#17
Hye Jung Min, Hyosuk Yun, Sehyeon Ji, Ganesan Rajasekaran, Jae Il Kim, Jeong-Sun Kim, Song Yub Shin, Chul Won Lee
Defensin peptides are essential for innate immunity in humans and other living systems, as they provide protection against infectious pathogens and regulate the immune response. Here, we report the solution structure of rattusin (RTSN), an α-defensin-related peptide, which revealed a novel C2-symmetric disulfide-linked dimeric structure. RTSN was synthesized by solid-phase peptide synthesis (SPPS) and refolded by air oxidation in vitro. Dimerization of the refolded RTSN (r-RTSN) resulted from five intermolecular disulfide (SS) bond exchanges formed by ten cysteines within two protomer chains...
March 27, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28345626/elevated-angiopoietin-2-in-aqueous-of-patients-with-neovascular-age-related-macular-degeneration-correlates-with-disease-severity-at-presentation
#18
Danny S Ng, Yolanda W Yip, Malini Bakthavatsalam, Li J Chen, Tse K Ng, Timothy Y Lai, Calvin P Pang, Mårten E Brelén
Angiopoietin 2 (ANG2) is a proangiogenic cytokine which may have an implication in neovascular age related macular degeneration (nAMD). In 24 eyes of 24 subjects presenting with treatment naïve nAMD and 26 eyes of 26 control patients, aqueous humor samples were collected at the time of intervention (intravitreal injection of anti-vascular endothelial growth factor or cataract extraction). Best corrected visual acuity (BCVA) with and central macular thickness (CMT) using optical coherence tomography (OCT) were measured before each injection in the nAMD group...
March 27, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28345590/associations-of-parental-age-with-health-and-social-factors-in-adult-offspring-methodological-pitfalls-and-possibilities
#19
David Carslake, Per Tynelius, Gerard van den Berg, George Davey Smith, Finn Rasmussen
Parental age is increasing rapidly in many countries. Analysis of this potentially important influence on offspring well-being is hampered by strong secular trends and socioeconomic patterning and by a shortage of follow-up data for adult offspring. We used Swedish national data on up to 3,653,938 offspring to consider the associations of parental age with a suite of outcomes in adult offspring, comparing the results from an array of statistical methods for optimal causal inference. The offspring of older mothers had higher BMI, blood pressure, height, intelligence, non-cognitive ability and socioeconomic position...
March 27, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28345533/fabrication-of-plasmonic-cavity-arrays-for-sers-analysis
#20
Ning Li, Lei Feng, Fei Teng, Nan Lu
The plasmonic cavity arrays are ideal substrates for surface enhanced Raman scattering (SERS) analysis because they can provide large hot area for analyte molecules. The large area increases the probability to make more analyte molecules on hot spots and leads to a high reproducibility. Therefore, to develop a simple method for creating cavity arrays is important. Herein, we demonstrate how to fabricate a V and W shape cavity arrays by a simple method based on self-assembly. Briefly, the V and W shape cavity arrays are respectively fabricated by taking KOH etching on a nanohole and a nanoring array patterned silicon (Si) slides, which are generated by taking a reactive ion etching on a monolayer of polystyrene spheres patterned blank Si slide and a Si slide covered with a monolayer of octadecyltrichlorosilane...
March 27, 2017: Nanotechnology
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