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https://www.readbyqxmd.com/read/29784657/autism-spectrum-disorder-advances-in-diagnosis-and-evaluation
#1
REVIEW
Lonnie Zwaigenbaum, Melanie Penner
Autism spectrum disorder (ASD) has a variety of causes, and its clinical expression is generally associated with substantial disability throughout the lifespan. Recent advances have led to earlier diagnosis, and deep phenotyping efforts focused on high risk infants have helped advance the characterization of early behavioral trajectories. Moreover, biomarkers that measure early structural and functional connectivity, visual orienting, and other biological processes have shown promise in detecting the risk of autism spectrum disorder even before the emergence of overt behavioral symptoms...
May 21, 2018: BMJ: British Medical Journal
https://www.readbyqxmd.com/read/29784605/code-seq-an-augmented-whole-exome-sequencing-enables-the-accurate-detection-of-cnvs-and-mutations-in-mendelian-obesity-and-intellectual-disability
#2
Louise Montagne, Mehdi Derhourhi, Amélie Piton, Bénédicte Toussaint, Emmanuelle Durand, Emmanuel Vaillant, Dorothée Thuillier, Stefan Gaget, Franck De Graeve, Iandry Rabearivelo, Amélie Lansiaux, Bruno Lenne, Sylvie Sukno, Rachel Desailloud, Miriam Cnop, Ramona Nicolescu, Lior Cohen, Jean-François Zagury, Mélanie Amouyal, Jacques Weill, Jean Muller, Olivier Sand, Bruno Delobel, Philippe Froguel, Amélie Bonnefond
OBJECTIVE: The molecular diagnosis of extreme forms of obesity, in which accurate detection of both copy number variations (CNVs) and point mutations, is crucial for an optimal care of the patients and genetic counseling for their families. Whole-exome sequencing (WES) has benefited considerably this molecular diagnosis, but its poor ability to detect CNVs remains a major limitation. We aimed to develop a method (CoDE-seq) enabling the accurate detection of both CNVs and point mutations in one step...
May 16, 2018: Molecular Metabolism
https://www.readbyqxmd.com/read/29768714/detection-of-an-avian-lineage-influenza-a-h7n2-virus-in-air-and-surface-samples-at-a-new-york-city-feline-quarantine-facility
#3
Francoise M Blachere, William G Lindsley, Angela M Weber, Donald H Beezhold, Robert E Thewlis, Kenneth R Mead, John D Noti
BACKGROUND: In December 2016, an outbreak of low pathogenicity avian influenza (LPAI) A(H7N2) occurred in cats at a New York City animal shelter and quickly spread to other shelters in New York and Pennsylvania. The A(H7N2) virus also spread to an attending veterinarian. In response, 500 cats were transferred from these shelters to a temporary quarantine facility for continued monitoring and treatment. OBJECTIVES: The objectives of this study was to assess the occupational risk of A(H7N2) exposure among emergency response workers at the feline quarantine facility...
May 16, 2018: Influenza and Other Respiratory Viruses
https://www.readbyqxmd.com/read/29768479/construction-of-a-tri-chromatic-reporter-cell-line-for-the-rapid-and-simple-screening-of-splice-switching-oligonucleotides-targeting-dmd-exon-51-using-high-content-screening
#4
Takenori Shimo, Keisuke Tachibana, Satoshi Obika
Splice-switching oligonucleotides (SSOs) that can modulate RNA splicing are used for the treatment of many genetic disorders. To enhance the efficacy of modulating splicing, it is important to optimize SSOs with regard to target sites, GC content, melting temperature (Tm value), chemistries, and lengths. Thus, in vitro assay systems that allow for the rapid and simple screening of SSOs are essential for optimizing SSO design. In this study, we established a novel tri-chromatic reporter cell line for SSO screening...
2018: PloS One
https://www.readbyqxmd.com/read/29765958/current-perspectives-on-opisthorchiasis-control-and-cholangiocarcinoma-detection-in-southeast-asia
#5
REVIEW
Narong Khuntikeo, Attapol Titapun, Watcharin Loilome, Puangrat Yongvanit, Bandit Thinkhamrop, Nittaya Chamadol, Thidarat Boonmars, Teerachai Nethanomsak, Ross H Andrews, Trevor N Petney, Paiboon Sithithaworn
Similar to bile duct cancer or cholangiocarcinoma (CCA) in the western world, opisthorchiasis-associated CCA in Southeast Asia is an aggressive cancer with high mortality rates. It is known to cause a significant health burden in the opisthorchiasis region in Thailand and possibly throughout mainland Southeast. To reduce this health burden, a comprehensive prevention and control program for opisthorchiasis, as well as CCA, is required. In this review, our aim is to provide a brief update of the current situation regarding the natural history of opisthorchiasis and health burden of CCA in Southeast Asia...
2018: Frontiers in Medicine
https://www.readbyqxmd.com/read/29757135/a-nationwide-retrospective-study-on-prevalence-of-hepatitis-e-virus-infection-in-italian-blood-donors
#6
Enea Spada, Simonetta Pupella, Giulio Pisani, Roberto Bruni, Paola Chionne, Elisabetta Madonna, Umbertina Villano, Matteo Simeoni, Sara Fabi, Giuseppe Marano, Cinzia Marcantonio, Patrizio Pezzotti, Anna R Ciccaglione, Giancarlo M Liumbruno
BACKGROUND: In Europe, hepatitis E virus (HEV) infection is mainly a food-borne zoonosis, but it can also be transmitted by blood transfusion. It is usually a mild and self-limited infection. However, immunocompromised persons, who are also those more likely to undergo blood transfusions, may develop chronic hepatitis and often cirrhosis. Since this is a potential threat to blood safety, we aimed to investigate HEV prevalence in Italian blood donors. MATERIALS AND METHODS: We used plasma donations collected during 2015-2016 by blood services (BS) scattered throughout the Italian regions and intended for the production of plasma-derived medicines...
May 4, 2018: Blood Transfusion, Trasfusione del Sangue
https://www.readbyqxmd.com/read/29750769/updates-on-adolescent-dating-and-sexual-violence-prevention-and-intervention
#7
Elizabeth Miller, Kelley A Jones, Heather L McCauley
PURPOSE OF REVIEW: Dating and sexual violence victimization are not uncommon in early adolescence and increase in prevalence throughout adolescence into young adulthood with profound health and social consequences. Greater attention to what works in prevention is needed to inform current policies and practices. RECENT FINDINGS: Adolescent dating violence (ADV) and sexual violence victimization, including cyber dating abuse, are highly prevalent among adolescents...
May 9, 2018: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/29743073/parallel-substrate-supply-and-ph-stabilization-for-optimal-screening-of-e-coli-with-the-membrane-based-fed-batch-shake-flask
#8
P Philip, D Kern, J Goldmanns, F Seiler, A Schulte, T Habicher, J Büchs
BACKGROUND: Screening in the fed-batch operation mode is essential for biological cultivations facing challenges as oxygen limitation, osmotic inhibition, catabolite repression, substrate inhibition or overflow metabolism. As a screening tool on shake flask level, the membrane-based fed-batch shake flask was developed. While a controlled supply of a substrate was realized with the in-built membrane tip, the possibilities for replenishing nutrients and stabilizing pH values was not yet exploited...
May 9, 2018: Microbial Cell Factories
https://www.readbyqxmd.com/read/29739904/cd147-promotes-entry-of-pentamer-expressing-human-cytomegalovirus-into-epithelial-and-endothelial-cells
#9
Adam L Vanarsdall, Sarah R Pritchard, Todd W Wisner, Jing Liu, Ted S Jardetzky, David C Johnson
Human cytomegalovirus (HCMV) replicates in many diverse cell types in vivo , and entry into different cells involves distinct entry mechanisms and different envelope glycoproteins. HCMV glycoprotein gB is thought to act as the virus fusogen, apparently after being triggered by different gH/gL proteins that bind distinct cellular receptors or entry mediators. A trimer of gH/gL/gO is required for entry into all cell types, and entry into fibroblasts involves trimer binding to platelet-derived growth factor receptor alpha (PDGFRα)...
May 8, 2018: MBio
https://www.readbyqxmd.com/read/29737275/metallopeptidases-of-toxoplasma-gondii-in-silico-identification-and-gene-expression
#10
Sandie Escotte-Binet, Antoine Huguenin, Dominique Aubert, Anne-Pascaline Martin, Matthieu Kaltenbach, Isabelle Florent, Isabelle Villena
Metallopeptidases are a family of proteins with domains that remain highly conserved throughout evolution. These hydrolases require divalent metal cation(s) to activate the water molecule in order to carry out their catalytic action on peptide bonds by nucleophilic attack. Metallopeptidases from parasitic protozoa, including Toxoplasma, are investigated because of their crucial role in parasite biology. In the present study, we screened the T. gondii database using PFAM motifs specific for metallopeptidases in association with the MEROPS peptidase Database (release 10...
2018: Parasite: Journal de la Société Française de Parasitologie
https://www.readbyqxmd.com/read/29733878/multi-step-high-throughput-conjugation-platform-for-the-development-of-antibody-drug-conjugates
#11
Sebastian Andris, Michaela Wendeler, Xiangyang Wang, Jürgen Hubbuch
Antibody drug conjugates (ADCs) form a rapidly growing class of biopharmaceuticals which attracts a lot of attention throughout the industry due to its high potential for cancer therapy. They combine the specificity of a monoclonal antibody (mAb) and the cell-killing capacity of highly cytotoxic small molecule drugs. Site-specific conjugation approaches involve a multi-step process for covalent linkage of antibody and drug via a linker. Despite the range of parameters that have to be investigated, high-throughput methods are scarcely used so far in ADC development...
May 4, 2018: Journal of Biotechnology
https://www.readbyqxmd.com/read/29732996/targeting-trypanothione-reductase-of-leishmanial-major-to-fight-against-cutaneous-leishmaniasis
#12
Abdul Aziz A Bin Dukhyil
BACKGROUND: 1.2-2.0 million cases of leishmaniasis occur annually throughout the world. The available drugs like Amphotericin B, antimonials and miltefosine are unable to fulfill the need due less effectiveness, high toxicity, resistance, high cost and complex route of administration. Leishmania survives inside the macrophages through different evasion mechanisms; one of that is activation of its trypanothione reductase enzyme which neutralizes the reactive oxygen species generated inside the macrophages to kill the parasites...
May 2, 2018: Infectious Disorders Drug Targets
https://www.readbyqxmd.com/read/29717260/a-modified-gene-trap-approach-for-improved-high-throughput-cancer-drug-discovery
#13
Shelli M Morris, Andrew J Mhyre, Savanna S Carmack, Carrie H Myers, Connor Burns, Wenjuan Ye, Marc Ferrer, James M Olson, Richard A Klinghoffer
While advances in laboratory automation has dramatically increased throughout of compound screening efforts, development of robust cell-based assays in relevant disease models remain resource-intensive and time-consuming, presenting a bottleneck to drug discovery campaigns. To address this issue, we present a modified gene trap approach to efficiently generate pathway-specific reporters that result in a robust "on" signal when the pathway of interest is inhibited. In this proof-of-concept study, we used vemurafenib and trametinib to identify traps that specifically detect inhibition of the mitogen-activated protein kinase (MAPK) pathway in a model of BRAFV600E driven human malignant melanoma...
May 2, 2018: Oncogene
https://www.readbyqxmd.com/read/29709676/liver-stiffness-measurement-in-the-primary-care-setting-detects-high-rates-of-advanced-fibrosis-and-predicts-liver-related-events-in-hepatitis-c
#14
Stephen Bloom, William Kemp, Amanda Nicoll, Stuart K Roberts, Paul Gow, Anouk Dev, Sally Bell, Siddharth Sood, Ian Kronborg, Virginia Knight, Diana Lewis, John Lubel
BACKGROUND: As many as 70% of individuals with chronic hepatitis C (CHC) are managed solely in primary care. The aims of this study were to determine the prevalence of elevated liver stiffness measurement (LSM) in a cohort of community managed CHC patients and to evaluate predictors of advanced liver disease and liver related events. METHODS: A prospective cohort of adult CHC patients were recruited from 21 primary care practises throughout Victoria, Australia. Inclusion criteria included the presence of CHC for >6months, no recent (<18months) specialist input and no history of hepatocellular carcinoma...
April 27, 2018: Journal of Hepatology
https://www.readbyqxmd.com/read/29709404/microbiology-of-french-military-casualties-repatriated-from-overseas-for-an-open-traumatic-injury
#15
S Larréché, A Bousquet, C Soler, C Mac Nab, D de Briel, D Delaune, C Bigaillon, P Pasquier, C Dubost, T Demoures, B Malgras, S Ausset, S de Rudnicki, T Leclerc, B de Loynes, S Bonnet, N Mocellin, C Ficko, R Haus, O Hersan, S Rigal, A Mérens
BACKGROUND: This study aimed to describe the microbiological epidemiology of repatriated French soldiers with an open traumatic injury, and to measure the proportion of multidrug-resistant bacteria (MDRB). METHODS: Retrospective study including all French soldiers repatriated in 2011 and 2012 in Parisian military hospitals for open traumatic injury. Results of clinical samples and MDRB screening were collected. The antibiotic susceptibility was assessed using the agar disk diffusion method...
April 27, 2018: Médecine et Maladies Infectieuses
https://www.readbyqxmd.com/read/29703267/saliva-samples-as-a-source-of-dna-for-high-throughput-genotyping-an-acceptable-and-sufficient-means-in-improvement-of-risk-estimation-throughout-mammographic-diagnostics
#16
U G Poehls, C C Hack, A B Ekici, M W Beckmann, P A Fasching, M Ruebner, H Huebner
BACKGROUND: Breast cancer screening programs seem to be an insufficient tool for women at high genetic risk for breast cancer. These women are not adequately monitored yet. Genetic testing may improve clearly the quality of breast cancer prevention programs. At present, blood samples are favored for obtaining high-quality DNA; however, DNA can also be obtained by collecting saliva. The aim of this study was, on the one hand, to determine whether saliva sampling is a practicable means to obtain sufficient quantity and quality of DNA and, on the other hand, whether it is accepted by patients throughout mammographic diagnostics...
April 27, 2018: European Journal of Medical Research
https://www.readbyqxmd.com/read/29702694/test-selection-for-antibody-detection-according-to-the-seroprevalence-level-of-schmallenberg-virus-in-sheep
#17
Srđan Pejaković, Laëtitia Wiggers, Damien Coupeau, Nathalie Kirschvink, James Mason, Benoît Muylkens
Schmallenberg virus (SBV), initially identified in Germany in 2011, spread rapidly throughout Europe causing significant economic losses in ruminant livestock. The ability to correctly detect emerging and re-emerging diseases such as SBV with reliable tests is of high importance. Firstly, we tested diagnostic performance, specificity, and sensitivity of three different assays used in SBV antibody detection using control sheep samples of determined status. After obtaining the results from the control samples, we assessed the potential of the assays to detect previously infected animals in field situations...
2018: PloS One
https://www.readbyqxmd.com/read/29690531/detection-of-the-invasive-mosquito-species-aedes-stegomyia-albopictus-diptera-culicidae-in-portugal
#18
Hugo Costa Osório, Líbia Zé-Zé, Maria Neto, Sílvia Silva, Fátima Marques, Ana Sofia Silva, Maria João Alves
The Asian tiger mosquito Aedes albopictus is an invasive mosquito originating from the Asia-Pacific region. This species is of major concern to public and veterinary health because of its vector role in the transmission of several pathogens, such as chikungunya, dengue, and Zika viruses. In Portugal, a National Vector Surveillance Network (REde de VIgil&acirc;ncia de VEctores&mdash;REVIVE) is responsible for the surveillance of autochthonous, but also invasive, mosquito species at points of entry, such as airports, ports, storage areas, and specific border regions with Spain...
April 21, 2018: International Journal of Environmental Research and Public Health
https://www.readbyqxmd.com/read/29687642/development-and-validation-of-a-health-related-quality-of-life-questionnaire-for-pediatric-patients-with-interstitial-lung-disease
#19
Mandy Niemitz, Nicolaus Schwerk, Lutz Goldbeck, Matthias Griese
PURPOSE: Children's interstitial lung disease (chILD) is often associated with multiple burdens and chronic impairment of health-related quality of life. Patient reported outcomes describe the patients' perspective on medical conditions and their treatments. We aimed to develop and evaluate the psychometric properties of a chILD-specific PRO (chILD-QoL) as an instrument for monitoring the patients' health status. METHODS: Items were generated through focus groups with parents, patients, and interviews with pediatric pulmonologists...
April 23, 2018: Pediatric Pulmonology
https://www.readbyqxmd.com/read/29683014/older-adults-perspectives-on-the-process-of-becoming-users-of-assistive-technology-a-qualitative-systematic-review-and-meta-synthesis
#20
Stina Meyer Larsen, Rikke Falgreen Mortensen, Hanne Kaae Kristensen, Lise Hounsgaard
PURPOSE: To identify, synthesize, and evaluate existing literature concerning the process of becoming a user of assistive technology (AT). METHOD: A systematic review and meta-synthesis were carried out. Five bibliographic databases (MEDLINE via PubMed, CINAHL, Web of Science, PsycINFO and SocINDEX) were systematically searched up to 13th of March 2017, using two sets of search terms: (i) elderly and synonyms and (ii) assistive technology and similar words, and combined with a qualitative research filter...
April 22, 2018: Disability and Rehabilitation. Assistive Technology
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