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https://www.readbyqxmd.com/read/29346770/integrative-analyses-of-de-novo-mutations-provide-deeper-biological-insights-into-autism-spectrum-disorder
#1
Atsushi Takata, Noriko Miyake, Yoshinori Tsurusaki, Ryoko Fukai, Satoko Miyatake, Eriko Koshimizu, Itaru Kushima, Takashi Okada, Mako Morikawa, Yota Uno, Kanako Ishizuka, Kazuhiko Nakamura, Masatsugu Tsujii, Takeo Yoshikawa, Tomoko Toyota, Nobuhiko Okamoto, Yoko Hiraki, Ryota Hashimoto, Yuka Yasuda, Shinji Saitoh, Kei Ohashi, Yasunari Sakai, Shouichi Ohga, Toshiro Hara, Mitsuhiro Kato, Kazuyuki Nakamura, Aiko Ito, Chizuru Seiwa, Emi Shirahata, Hitoshi Osaka, Ayumi Matsumoto, Saoko Takeshita, Jun Tohyama, Tomoko Saikusa, Toyojiro Matsuishi, Takumi Nakamura, Takashi Tsuboi, Tadafumi Kato, Toshifumi Suzuki, Hirotomo Saitsu, Mitsuko Nakashima, Takeshi Mizuguchi, Fumiaki Tanaka, Norio Mori, Norio Ozaki, Naomichi Matsumoto
Recent studies have established important roles of de novo mutations (DNMs) in autism spectrum disorders (ASDs). Here, we analyze DNMs in 262 ASD probands of Japanese origin and confirm the "de novo paradigm" of ASDs across ethnicities. Based on this consistency, we combine the lists of damaging DNMs in our and published ASD cohorts (total number of trios, 4,244) and perform integrative bioinformatics analyses. Besides replicating the findings of previous studies, our analyses highlight ATP-binding genes and fetal cerebellar/striatal circuits...
January 16, 2018: Cell Reports
https://www.readbyqxmd.com/read/29346752/epitranscriptomic-m6a-regulation-of-axon-regeneration-in-the-adult-mammalian-nervous-system
#2
Yi-Lan Weng, Xu Wang, Ran An, Jessica Cassin, Caroline Vissers, Yuanyuan Liu, Yajing Liu, Tianlei Xu, Xinyuan Wang, Samuel Zheng Hao Wong, Jessica Joseph, Louis C Dore, Qiang Dong, Wei Zheng, Peng Jin, Hao Wu, Bin Shen, Xiaoxi Zhuang, Chuan He, Kai Liu, Hongjun Song, Guo-Li Ming
N6-methyladenosine (m6A) affects multiple aspects of mRNA metabolism and regulates developmental transitions by promoting mRNA decay. Little is known about the role of m6A in the adult mammalian nervous system. Here we report that sciatic nerve lesion elevates levels of m6A-tagged transcripts encoding many regeneration-associated genes and protein translation machinery components in the adult mouse dorsal root ganglion (DRG). Single-base resolution m6A-CLIP mapping further reveals a dynamic m6A landscape in the adult DRG upon injury...
January 17, 2018: Neuron
https://www.readbyqxmd.com/read/29346751/the-brain-compass-a-perspective-on-how-self-motion-updates-the-head-direction-cell-attractor
#3
REVIEW
Jean Laurens, Dora E Angelaki
Head direction cells form an internal compass signaling head azimuth orientation even without visual landmarks. This property is generated by a neuronal ring attractor that is updated using rotation velocity cues. The properties and origin of this velocity drive remain, however, unknown. We propose a quantitative framework whereby this drive represents a multisensory self-motion estimate computed through an internal model that uses sensory prediction errors of vestibular, visual, and somatosensory cues to improve on-line motor drive...
January 17, 2018: Neuron
https://www.readbyqxmd.com/read/29346640/preventive-chemotherapy-to-control-soil-transmitted-helminthiasis-averted-more-than-500-000-dalys-in-2015
#4
A Montresor, W Trouleau, D Mupfasoni, M Bangert, S A Joseph, A Mikhailov, C Fitzpatrick
Background: Preventive chemotherapy (PC), the large-scale administration of anthelminthics, is recommended by the World Health Organization (WHO) for the control of soil-transmitted helminthiasis (STH). Since 2010, donated anthelminthics for STH have boosted the implementation of PC programmes in children, achieving global coverage of more than 60% in 2015. The WHO Global Health Estimates attribute an annual loss of over 3.3 million disability-adjusted life-years (DALYs) to STH. The aim of this study is to estimate the impact of PC programmes on child morbidity...
January 16, 2018: Transactions of the Royal Society of Tropical Medicine and Hygiene
https://www.readbyqxmd.com/read/29346620/combating-global-antibiotic-resistance-emerging-one-health-concerns-in-lower-and-middle-income-countries
#5
Maya Nadimpalli, Elisabeth Delarocque-Astagneau, David C Love, Lance B Price, Bich-Tram Huynh, Jean-Marc Collard, Kruy Sun Lay, Laurence Borand, Awa Ndir, Timothy R Walsh, Didier Guillemot
Antibiotic misuse in lower- and middle-income countries (LMICs) contributes to the development of antibiotic resistance that can disseminate globally. Strategies specific to LMICs that seek to reduce antibiotic misuse by humans, but simultaneously improve antibiotic access, have been proposed. However, most approaches to date have not considered the growing impact of animal and environmental reservoirs of antibiotic resistance, which threaten to exacerbate the antibiotic resistance crisis in LMICs. In particular, current strategies do not prioritize the impacts of increased antibiotic use for terrestrial food-animal and aquaculture production, inadequate food safety, and widespread environmental pollution...
January 15, 2018: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
https://www.readbyqxmd.com/read/29346541/practical-implications-of-erythromycin-resistance-gene-diversity-on-surveillance-and-monitoring-of-resistance
#6
Jinlyung Choi, Elizabeth L Rieke, Thomas B Moorman, Michelle L Soupir, Heather K Allen, Schuyler D Smith, Adina Howe
Use of antibiotics in human and animal medicine has applied selective pressure for the global dissemination of antibiotic-resistant bacteria. Therefore, it is of interest to develop strategies to mitigate the continued amplification and transmission of resistance genes in environmental reservoirs such as farms, hospitals, and watersheds. However, the efficacy of mitigation strategies is difficult to evaluate because it is unclear which resistance genes are important to monitor, and which primers to use to detect those genes...
January 15, 2018: FEMS Microbiology Ecology
https://www.readbyqxmd.com/read/29346514/optimal-water-networks-in-protein-cavities-with-gasol-and-3d-rism
#7
Lucia Fusani, Ian Wall, David Palmer, Alvaro Cortes
Motivation: Water molecules in protein binding sites play essential roles in biological processes. The popular 3D-RISM prediction method can calculate the solvent density distribution within minutes, but is difficult to convert it into explicit water molecules. Results: We present GAsol, a tool that is capable of finding the network of water molecules that best fits a particular 3D-RISM density distribution in a fast and accurate manner and that outperforms other available tools by finding the globally optimal solution thanks to its genetic algorithm...
January 15, 2018: Bioinformatics
https://www.readbyqxmd.com/read/29346506/small-and-surrounded-population-size-and-land-use-intensity-interact-to-determine-reliance-on-autonomous-selfing-in-a-monocarpic-plant
#8
Rachel B Spigler
Background and Aims: Habitat fragmentation has transformed landscapes globally, leaving remnants embedded within a complex matrix that is rapidly becoming more developed. For many plant populations, the associated factors of decreased size and intensification of land use surrounding them are expected to increase pollen limitation ('PL'), unless autonomous self-pollination provides reproductive assurance ('RA'). Decreased pollinator visitation is often assumed to drive these patterns, but other, less studied mechanisms might include increased heterospecific pollen transfer or decreased conspecific pollen availability via florivory...
January 15, 2018: Annals of Botany
https://www.readbyqxmd.com/read/29346490/composition-architecture-and-functional-implications-of-the-connective-tissue-network-of-the-extraocular-muscles
#9
Linda K McLoon, André Vicente, Krysta R Fitzpatrick, Mona Lindström, Fatima Pedrosa Domellöf
Purpose: We examined the pattern and extent of connective tissue distribution in the extraocular muscles (EOMs) and determined the ability of the interconnected connective tissues to disseminate force laterally. Methods: Human EOMs were examined for collagens I, III, IV, and VI; fibronectin; laminin; and elastin using immunohistochemistry. Connective tissue distribution was examined with scanning electron microscopy. Rabbit EOMs were examined for levels of force transmission longitudinally and transversely using in vitro force assessment...
January 1, 2018: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/29346440/geographical-distribution-of-soil-transmitted-helminths-and-the-effects-of-community-type-in-south-asia-and-south-east-asia-a-systematic-review
#10
Zachary A Silver, Saravanakumar P Kaliappan, Prasanna Samuel, Srinivasan Venugopal, Gagandeep Kang, Rajiv Sarkar, Sitara S R Ajjampur
BACKGROUND: Soil-transmitted helminth (STH) infections are among the most prevalent neglected tropical diseases (NTD) worldwide. Since the publication of the WHO road map to combat NTD in 2012, there has been a renewed commitment to control STH. In this study, we analysed the geographical distribution and effect of community type on prevalence of hookworm, Trichuris and Ascaris in south Asia and south east Asia. METHODOLOGY: We conducted a systematic review of open-access literature published in PubMed Central and the Global Atlas of Helminth Infection...
January 2018: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/29346437/tissue-specific-transcriptome-analyses-provide-new-insights-into-gpcr-signalling-in-adult-schistosoma-mansoni
#11
REVIEW
Steffen Hahnel, Nic Wheeler, Zhigang Lu, Arporn Wangwiwatsin, Paul McVeigh, Aaron Maule, Matthew Berriman, Timothy Day, Paula Ribeiro, Christoph G Grevelding
Schistosomes are blood-dwelling trematodes with global impact on human and animal health. Because medical treatment is currently based on a single drug, praziquantel, there is urgent need for the development of alternative control strategies. The Schistosoma mansoni genome project provides a platform to study and connect the genetic repertoire of schistosomes to specific biological functions essential for successful parasitism. G protein-coupled receptors (GPCRs) form the largest superfamily of transmembrane receptors throughout the Eumetazoan phyla, including platyhelminths...
January 2018: PLoS Pathogens
https://www.readbyqxmd.com/read/29346404/bio-fortification-potential-of-global-wild-annual-lentil-core-collection
#12
Sandeep Kumar, Anil Kumar Choudhary, Kuldeep Singh Rana, Ashutosh Sarker, Mohar Singh
Lentil, generally known as poor man's' meat due to its high protein value is also a good source of dietary fiber, antioxidants and vitamins along with fast cooking characteristics. It could be used globally as a staple food crop to eradicate hidden hunger, if this nutritionally rich crop is further enriched with essential minerals. This requires identification of essential mineral rich germplasm. So, in the present study, a core set of 96 wild accessions extracted from 405 global wild annual collections comprising different species was analyzed to determine its bio-fortification potential...
2018: PloS One
https://www.readbyqxmd.com/read/29346385/combined-effectiveness-of-anthelmintic-chemotherapy-and-wash-among-hiv-infected-adults
#13
Arianna R Means, Lisette van Lieshout, Eric Brienen, Krista Yuhas, James P Hughes, Paul Ndungu, Benson Singa, Judd L Walson
INTRODUCTION: Current global helminth control guidelines focus on regular deworming of targeted populations for morbidity control. However, water, sanitation, and hygiene (WASH) interventions may also be important for reducing helminth transmission. We evaluated the impact of different potential helminth protective packages on infection prevalence, including repeated treatment with albendazole and praziquantel with and without WASH access. METHODOLOGY/PRINCIPAL FINDINGS: We conducted a cohort study nested within a randomized trial of empiric deworming of HIV-infected adults in Kenya...
January 2018: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/29346375/how-do-we-reach-the-girls-and-women-who-are-the-hardest-to-reach-inequitable-opportunities-in-reproductive-and-maternal-health-care-services-in-armed-conflict-and-forced-displacement-settings-in-colombia
#14
Juan Carlos Rivillas, Raul Devia Rodriguez, Gloria Song, Andréanne Martel
OBJECTIVES: This paper assesses inequalities in access to reproductive and maternal health services among females affected by forced displacement and sexual and gender-based violence in conflict settings in Colombia. This was accomplished through the following approaches: first, we assessed the gaps and gradients in three selected reproductive and maternal health care services. Second, we analyzed the patterns of inequalities in reproductive and maternal health care services and changes over time...
2018: PloS One
https://www.readbyqxmd.com/read/29346369/the-rise-of-neglected-tropical-diseases-in-the-new-texas
#15
REVIEW
Peter J Hotez
Within the last five years, the State of Texas has experienced either transmission or outbreaks of Ebola, chikungunya, West Nile, and Zika virus infections. Autochthonous transmission of neglected parasitic and bacterial diseases has also become increasingly reported. The rise of such emerging and neglected tropical diseases (NTDs) has not occurred by accident but instead reflects rapidly evolving changes and shifts in a "new" Texas beset by modern and globalizing forces that include rapid expansions in population together with urbanization and human migrations, altered transportation patterns, climate change, steeply declining vaccination rates, and a new paradigm of poverty known as "blue marble health...
January 2018: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/29346367/assessment-of-serum-pharmacokinetics-and-urinary-excretion-of-albendazole-and-its-metabolites-in-human-volunteers
#16
Laura Ceballos, Alejandro Krolewiecki, Marisa Juárez, Laura Moreno, Fabian Schaer, Luis I Alvarez, Rubén Cimino, Judd Walson, Carlos E Lanusse
BACKGROUND: Soil Transmitted Helminth (STH) infections negatively impact physical and mental development in human populations. Current WHO guidelines recommend morbidity control of these infections through mass drug administration (MDA) using albendazole (ABZ) or mebendazole. Despite major reductions in STH associated morbidity globally, not all programs have demonstrated the expected impact on prevalence of parasite infections. These therapeutic failures may be related to poor programmatic coverage, suboptimal adherence or the exposure of parasites to sub-therapeutic drug concentrations...
January 2018: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/29346287/development-of-zika-virus-vaccines
#17
REVIEW
Huda Makhluf, Sujan Shresta
Zika virus (ZIKV) is a mosquito-borne flavivirus that emerged as a global threat following the most recent outbreak in Brazil in 2015. ZIKV infection of pregnant women is associated with fetal abnormalities such as microcephaly, and infection of adults can lead to Guillain-Barré syndrome, an autoimmune disease characterized by neurological deficits. Although there are currently licensed vaccines for other flaviviruses, there remains an urgent need for preventative vaccines against ZIKV infection. Herein we describe the current efforts to accelerate the development of ZIKV vaccines using various platforms, including live attenuated virus, inactivated virus, DNA and RNA, viral vectors, and in silico-predicted immunogenic viral epitopes...
January 18, 2018: Vaccines
https://www.readbyqxmd.com/read/29346221/a-validation-argument-for-a-simulation-based-training-course-centered-on-assessment-recognition-and-early-management-of-pediatric-sepsis
#18
Gary L Geis, Derek S Wheeler, Amy Bunger, Laura G Militello, Regina G Taylor, Jerome P Bauer, Terri L Byczkowski, Benjamin T Kerrey, Mary D Patterson
INTRODUCTION: Early recognition of sepsis remains one of the greatest challenges in medicine. Novice clinicians are often responsible for the recognition of sepsis and the initiation of urgent management. The aim of this study was to create a validity argument for the use of a simulation-based training course centered on assessment, recognition, and early management of sepsis in a laboratory-based setting. METHODS: Five unique simulation scenarios were developed integrating critical sepsis cues identified through qualitative interviewing...
January 17, 2018: Simulation in Healthcare: Journal of the Society for Simulation in Healthcare
https://www.readbyqxmd.com/read/29346169/sphenoid-dysplasia-a-rare-presentation-of-infantile-myofibroma
#19
Ashwini Kini, Reema Syed, Christopher Compton, Jessica L Hata, Aparna Ramasubramanian
The authors report a case of isolated congenital orbital myofibroma causing sphenoid dysplasia and presenting as global restriction of extraocular motility and ptosis in a neonate. Sphenoid wing dysplasia is most commonly associated neurofibromatosis 1 but this patient had no evidence of neurofibromatosis on clinical examination and genetic testing. Congenital orbital myofibroma can have secondary effects on bone and likely the lesion was present early in development leading to aplasia of the sphenoid bone...
January 17, 2018: Ophthalmic Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/29346139/blood-biomarkers-for-evaluation-of-perinatal-encephalopathy-state-of-the-art
#20
Ernest M Graham, Allen D Everett, Jean-Christophe Delpech, Frances J Northington
PURPOSE OF REVIEW: The rapid progress in biomarker science is on the threshold of significantly changing clinical care for infants in the neonatal ICU. Infants with neonatal brain injuries will likely be the first group whose management is dramatically altered with point-of-care, rapidly available brain biomarker analysis. Providing an interim update on progress in this area is the purpose of this review. RECENT FINDINGS: Highlighted findings from the past 18 months of publications on biomarkers in neonatal brain injury include; Specific nonbrain markers of cardiac health and global asphyxia continue to provide information on brain injury after hypoxic-ischemic encephalopathy (HIE)...
January 17, 2018: Current Opinion in Pediatrics
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