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https://www.readbyqxmd.com/read/28545161/classic-galactosemia-study-on-the-late-prenatal-development-of-galt-specific-activity-in-a-sheep-model
#1
Ana I Coelho, Jörgen Bierau, Martijn Lindhout, Jelle Achten, Boris W Kramer, M Estela Rubio-Gozalbo
BACKGROUND: Classic galactosemia results from deficient activity of galactose-1-phosphate uridylyltransferase (GALT), a key enzyme of galactose metabolism. Despite early diagnosis and early postnatal therapeutic intervention, patients still develop neurologic and fertility impairments. Prenatal developmental toxicity has been hypothesized as a determinant factor of disease. In order to shed light on the importance of prenatal GALT activity, several studies have examined GALT activity throughout development...
May 25, 2017: Anatomical Record: Advances in Integrative Anatomy and Evolutionary Biology
https://www.readbyqxmd.com/read/28545090/neotropical-bats-that-co-habit-with-humans-function-as-dead-end-hosts-for-dengue-virus
#2
Amanda Vicente-Santos, Andres Moreira-Soto, Claudio Soto-Garita, Luis Guillermo Chaverri, Andrea Chaves, Jan Felix Drexler, Juan Alberto Morales, Alejandro Alfaro-Alarcón, Bernal Rodríguez-Herrera, Eugenia Corrales-Aguilar
Several studies have shown Dengue Virus (DENV) nucleic acids and/or antibodies present in Neotropical wildlife including bats, suggesting that some bat species may be susceptible to DENV infection. Here we aim to elucidate the role of house-roosting bats in the DENV transmission cycle. Bats were sampled in households located in high and low dengue incidence regions during rainy and dry seasons in Costa Rica. We captured 318 bats from 12 different species in 29 households. Necropsies were performed in 205 bats to analyze virus presence in heart, lung, spleen, liver, intestine, kidney, and brain tissue...
May 18, 2017: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/28545042/hierarchical-ordering-with-partial-pairwise-hierarchical-relationships-on-the-macaque-brain-data-sets
#3
Woosang Lim, Jungsoo Lee, Yongsub Lim, Doo-Hwan Bae, Haesun Park, Dae-Shik Kim, Kyomin Jung
Hierarchical organizations of information processing in the brain networks have been known to exist and widely studied. To find proper hierarchical structures in the macaque brain, the traditional methods need the entire pairwise hierarchical relationships between cortical areas. In this paper, we present a new method that discovers hierarchical structures of macaque brain networks by using partial information of pairwise hierarchical relationships. Our method uses a graph-based manifold learning to exploit inherent relationship, and computes pseudo distances of hierarchical levels for every pair of cortical areas...
2017: PloS One
https://www.readbyqxmd.com/read/28544957/zebrafish-as-a-visual-and-dynamic-model-to-study-the-transport-of-nanosized-drug-delivery-systems-across-the-biological-barriers
#4
Ye Li, Xiaoqing Miao, Tongkai Chen, Xiang Yi, Ruibing Wang, Haitao Zhao, Simon Ming-Yuen Lee, Xueqing Wang, Ying Zheng
With the wide application of nanotechnology to drug delivery systems, a simple, dynamic and visual in vivo model for high-throughput screening of novel formulations with fluorescence markers across biological barriers is desperately needed. In vitro cell culture models have been widely used, although they are far from a complimentary in vivo system. Mammalian animal models are common predictive models to study transport, but they are costly and time consuming. Zebrafish (Danio rerio), a small vertebrate model, have the potential to be developed as an "intermediate" model for quick evaluations...
May 10, 2017: Colloids and Surfaces. B, Biointerfaces
https://www.readbyqxmd.com/read/28544599/a-tumor-profile-in-patau-syndrome-trisomy-13
#5
Daniel Satgé, Motoi Nishi, Nicolas Sirvent, Michel Vekemans, Marie-Pierre Chenard, Ann Barnes
Individuals with trisomic conditions like Down syndrome and Edwards syndrome are prone to certain types of malignancy. However, for Patau syndrome (constitutional trisomy 13), which occurs in 1/10,000-1/20,000 live births, the tumor profile has not been well characterized. An awareness of susceptibility to malignancies can improve care of affected individuals, as well as further our understanding of the contribution of trisomy to carcinogenesis. Therefore, we conducted an extensive review of the literature; we found 17 malignancies reported in individuals with Patau syndrome...
May 25, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28543186/clinical-biochemical-and-genetic-aspects-of-sj%C3%A3-gren-larsson-syndrome
#6
REVIEW
Kye Hee Cho, Sung Han Shim, MinYoung Kim
Sjögren-Larsson syndrome (SLS) is caused by an autosomal recessive mutation in ALDH3A2, which encodes the fatty aldehyde dehydrogenase responsible for the metabolism of long-chain aliphatic aldehydes and alcohols. The pathophysiologic accumulation of aldehydes in various organs, including the skin, brain, and eyes, leads to characteristic features of ichthyosis, intellectual disability, spastic di-/quadriplegia, and low visual acuity with photophobia. The severity of the clinical manifestations thereof can vary greatly, although most patients are bound to a wheelchair due to contractures...
May 23, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28542524/ectopically-expressed-slc34a2a-sense-antisense-transcripts-cause-a-cerebellar-phenotype-in-zebrafish-embryos-depending-on-rna-complementarity-and-dicer
#7
Monica J Piatek, Victoria Henderson, Amy Fearn, Bill Chaudhry, Andreas Werner
Natural antisense transcripts (NATs) are complementary to protein coding genes and potentially regulate their expression. Despite widespread occurrence of NATs in the genomes of higher eukaryotes, their biological role and mechanism of action is poorly understood. Zebrafish embryos offer a unique model system to study sense-antisense transcript interplay at whole organism level. Here, we investigate putative antisense transcript-mediated mechanisms by ectopically co-expressing the complementary transcripts during early zebrafish development...
2017: PloS One
https://www.readbyqxmd.com/read/28542411/genome-scale-investigation-of-olfactory-system-spatial-heterogeneity
#8
Torben Noto, Derrick Barnagian, Jason B Castro
The early olfactory system is organized in parallel, with numerous, specialized subsystems established by the modular and topographic projections of sensory inputs. While these anatomical sub-systems are in many cases demarcated by well-known marker genes, we stand to learn considerably more about their possible functional specializations from comprehensive, genome-scale descriptions of their molecular anatomy. Here, we leverage the resources of the Allen Brain Atlas (ABA)-a spatially registered compendium of gene expression for the mouse brain-to investigate the early olfactory system's genomic anatomy...
2017: PloS One
https://www.readbyqxmd.com/read/28541863/danger-on-the-farm-a-comparison-of-agricultural-and-animal-related-injuries
#9
Jessica L Weaver, Charles W Kimbrough, Kimberly Broughton-Miller, Michelle Frisbie, Jodi Wojcik, Karina Pentecost, Matthew C Bozeman, Nicholas A Nash, Brian G Harbrecht
Animal-related injuries are common in rural areas. Agricultural workers can suffer severe injuries involving farm machinery or falls. The spectrum of injuries related to rural activities is poorly defined and characterizing these injuries will improve injury prevention efforts. Records for injured patients admitted between 2010 and 2013 were retrospectively reviewed. Patients with a mechanism of injury involving a large animal or with the injury site listed as "farm" were included. Patients with agricultural injuries (n = 85) were older with more multisystem injuries than patients injured by animals (n = 132) but the Injury Severity Score was equivalent...
May 1, 2017: American Surgeon
https://www.readbyqxmd.com/read/28541714/a-multivariate-evaluation-of-factors-affecting-the-quality-of-freshly-frozen-tissue-specimens
#10
Tong-Hong Wang, Chin-Chuan Chen, Kung-Hao Liang, Chi-Yuan Chen, Wen-Yu Chuang, Shir-Hwa Ueng, Pao-Hsien Chu, Chung-Guei Huang, Tse-Ching Chen, Chuen Hsueh
Well-prepared and preserved freshly frozen specimens are indispensable materials for clinical studies. To manage specimen quality and to understand the factors potentially affecting specimen quality during preservation processes, we analyzed the quality of RNA and genomic DNA of various tissues collected between 2002 and 2011 in Linkou Chang Gung Memorial Hospital, Taiwan. During this period, a total of 1059 freshly frozen specimens from eight major cancer categories were examined. It was found that preservation duration, organ origin, and tissue type could all influence the quality of RNA samples...
May 25, 2017: Biopreservation and Biobanking
https://www.readbyqxmd.com/read/28541130/measuring-functional-connectivity-in-stroke-approaches-and-considerations
#11
Joshua S Siegel, Gordon L Shulman, Maurizio Corbetta
Recent research has demonstrated the importance of global changes to the functional organization of brain network following stroke. Resting functional magnetic resonance imaging (R-fMRI) is a non-invasive tool that enables the measurement of functional connectivity (FC) across the entire brain while placing minimal demands on the subject. For these reasons, it is a uniquely appealing tool for studying the distant effects of stroke. However, R-fMRI studies rely on a number of premises that cannot be assumed without careful validation in the context of stroke...
January 1, 2017: Journal of Cerebral Blood Flow and Metabolism
https://www.readbyqxmd.com/read/28540905/tuberous-sclerosis-complex-bourneville-pringle-disease-in-a-25-year-old-female-with-bilateral-renal-angiomyolipoma-and-secondary-hypertension
#12
Sahar El Aoud, Faten Frikha, Mouna Snoussi, Raida Ben Salah, Zouhir Bahloul
Tuberous sclerosis or tuberous sclerosis complex (TSC) is an autosomal dominant inherited neurocutaneous disorder that variably affects the brain, skin, kidneys, heart, and other organs. It is characterized by skin and renal lesions in addition to central and peripheral nervous system tumors, with neurological and psychiatric findings. We report such a rare case of tuberous sclerosis in a 25-year-old female who presented with abdominal pain and hypertension. Physical examination showed dermatological signs that included hypopigmented maculae, shagreen plaque, angiofibromas on the centrofacial areas, periungual fibromas on toes, and molluscum pendulum around the neck...
May 2017: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/28540201/cold-dialysis-and-its-impact-on-renal-patients-health-an-evidence-based-mini-review
#13
REVIEW
Giorgos K Sakkas, Argiro A Krase, Christoforos D Giannaki, Christina Karatzaferi
Chronic renal disease is associated with advanced age, diabetes, hypertension, obesity, musculoskeletal problems and cardiovascular disease, the latter being the main cause of mortality in patients receiving haemodialysis (HD). Cooled dialysate (35 °C-36 °C) is recently employed to reduce the incidence of intradialytic hypotension in patients on chronic HD. The studies to date that have evaluated cooled dialysate are limited, however, data suggest that cooled dialysate improves hemodynamic tolerability of dialysis, minimizes hypotension and exerts a protective effect over major organs including the heart and brain...
May 6, 2017: World Journal of Nephrology
https://www.readbyqxmd.com/read/28539952/executive-dysfunction-in-obsessive-compulsive-disorder-and-anterior-cingulate-based-resting-state-functional-connectivity
#14
Je-Yeon Yun, Joon Hwan Jang, Wi Hoon Jung, Na Young Shin, Sung Nyun Kim, Jae Yeon Hwang, Jun Soo Kwon
OBJECTIVE: Executive dysfunction might be an important determinant for response to pharmacotherapy in obsessive-compulsive disorder (OCD), and could be sustained independently of symptom relief. The anterior cingulate cortex (ACC) has been indicated as a potential neural correlate of executive functioning in OCD. The present study examined the brain-executive function relationships in OCD from the ACC-based resting state functional connectivity networks (rs-FCNs), which reflect information processing mechanisms during task performance...
May 2017: Psychiatry Investigation
https://www.readbyqxmd.com/read/28539914/functional-connectivity-mapping-in-the-animal-model-principles-and-applications-of-resting-state-fmri
#15
REVIEW
Martin Gorges, Francesco Roselli, Hans-Peter Müller, Albert C Ludolph, Volker Rasche, Jan Kassubek
"Resting-state" fMRI has substantially contributed to the understanding of human and non-human functional brain organization by the analysis of correlated patterns in spontaneous activity within dedicated brain systems. Spontaneous neural activity is indirectly measured from the blood oxygenation level-dependent signal as acquired by echo planar imaging, when subjects quietly "resting" in the scanner. Animal models including disease or knockout models allow a broad spectrum of experimental manipulations not applicable in humans...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28539434/estrogens-in-male-physiology
#16
REVIEW
Paul S Cooke, Manjunatha K Nanjappa, CheMyong Ko, Gail S Prins, Rex A Hess
Estrogens have historically been associated with female reproduction, but work over the last two decades established that estrogens and their main nuclear receptors (ESR1 and ESR2) and G protein-coupled estrogen receptor (GPER) also regulate male reproductive and nonreproductive organs. 17β-Estradiol (E2) is measureable in blood of men and males of other species, but in rete testis fluids, E2 reaches concentrations normally found only in females and in some species nanomolar concentrations of estrone sulfate are found in semen...
July 1, 2017: Physiological Reviews
https://www.readbyqxmd.com/read/28539423/mnemonic-encoding-and-cortical-organization-in-parietal-and-prefrontal-cortices
#17
Nicolas Y Masse, Jonathan M Hodnefield, David J Freedman
Persistent activity within the frontoparietal network is consistently observed during tasks which require working memory. However, the neural circuit mechanisms underlying persistent neuronal encoding within this network remain unresolved. Here, we ask how neural circuits support persistent activity by examining population recordings from posterior parietal (PPC) and prefrontal (PFC) cortices in two male monkeys that performed spatial and motion direction based tasks that required working memory. While spatially selective persistent activity was observed in both areas, robust selective persistent activity for motion direction was only observed in PFC...
May 24, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28539304/emindlog-self-measurement-of-anxiety-and-depression-using-mobile-technology
#18
Thomas M Penders, Karl L Wuensch, Philip T Ninan
BACKGROUND: Quantifying anxiety and depressive experiences permits individuals to calibrate where they are and monitor intervention-associated changes. eMindLog is a novel self-report measure for anxiety and depression that is grounded in psychology with an organizing structure based on neuroscience. OBJECTIVE: Our aim was to explore the psychometric properties of eMindLog in a nonclinical sample of subjects. METHODS: In a cross-sectional study of eMindLog, a convenience sample of 198 adults provided informed consent and completed eMindLog and the Hospital Anxiety and Depression Scale (HADS) as a reference...
May 24, 2017: JMIR Research Protocols
https://www.readbyqxmd.com/read/28538681/human-thalamic-somatosensory-nucleus-ventral-caudal-vc-as-a-locus-for-stimulation-by-inputs-from-tactile-noxious-and-thermal-sensors-on-an-active-prosthesis
#19
REVIEW
Jui Hong Chien, Anna Korzeniewska, Luana Colloca, Claudia Campbell, Patrick Dougherty, Frederick Lenz
The forebrain somatic sensory locus for input from sensors on the surface of an active prosthesis is an important component of the Brain Machine Interface. We now review the neuronal responses to controlled cutaneous stimuli and the sensations produced by Threshold Stimulation at Microampere current levels (TMIS) in such a locus, the human thalamic Ventral Caudal nucleus (Vc). The responses of these neurons to tactile stimuli mirror those for the corresponding class of tactile mechanoreceptor fiber in the peripheral nerve, and TMIS can evoke sensations like those produced by the stimuli that optimally activate each class...
May 24, 2017: Sensors
https://www.readbyqxmd.com/read/28538440/neurologic-injury-in-adults-supported-with-veno-venous-extracorporeal-membrane-oxygenation-for-respiratory-failure-findings-from-the-extracorporeal-life-support-organization-database
#20
Roberto Lorusso, Sandro Gelsomino, Orlando Parise, Michele Di Mauro, Fabio Barili, Gijs Geskes, Enrico Vizzardi, Peter T Rycus, Raf Muellenbach, Thomas Mueller, Antonio Pesenti, Alain Combes, Giles Peek, Bjorn Frenckner, Matteo Di Nardo, Justyna Swol, Jos Maessen, Ravi R Thiagarajan
OBJECTIVES: To assess in-hospital neurologic (CNS) complications in adult patients undergoing veno-venous extracorporeal membrane oxygenation for respiratory failure. DESIGN: Retrospective analysis of the Extracorporeal Life Support Organization's data registry. SETTING: Data reported to Extracorporeal Life Support Organization from 350 international extracorporeal membrane oxygenation centers during 1992-2015. PATIENTS: Adults (≥ 18 yr old) supported with veno-venous extracorporeal membrane oxygenation for respiratory failure...
May 22, 2017: Critical Care Medicine
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