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https://www.readbyqxmd.com/read/30025081/a-cross-sectional-and-longitudinal-study-of-retinal-sensitivity-in-rpe65-associated-leber-congenital-amaurosis
#1
Neruban Kumaran, Gary S Rubin, Angelos Kalitzeos, Kaoru Fujinami, James W B Bainbridge, Richard G Weleber, Michel Michaelides
Purpose: RPE65-associated Leber congenital amaurosis (RPE65-LCA) is an early-onset severe retinal dystrophy associated with progressive visual field loss. Phase I/II and III gene therapy trials have identified improved retinal sensitivity but little is known about the natural history of retinal sensitivity in RPE65-LCA. Methods: A total of 19 subjects (aged 9 to 23 years) undertook monocular full-field static perimetry of which 13 subjects were monitored longitudinally...
July 2, 2018: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/30024070/congenital-fibroblastic-connective-tissue-nevi-unusual-and-misleading-presentations-in-three-infantile-cases
#2
Jebrane Bouaoud, Sylvie Fraitag, Veronique Soupre, Marc Mitrofanoff, Olivia Boccara, Christelle Galliot, Christine Bodemer, Arnaud Picard, Roman H Khonsari
BACKGROUND: Fibroblastic connective tissue nevi (FCTN) are benign skin conditions characterized by bland spindle cells infiltrating the reticular dermis and the upper subcutis with preservation of adnexal structures. A subset of FCTN expresses CD34, which may cause difficulties in the differential diagnosis, in particular with dermatofibrosarcoma (DFSP). We aim to study clinical and histological main features of congenital FCTN to better understand their heterogeneity. METHODS: We present 3 cases of congenital FCTN with misleading pseudo-tumoral presentations and compare them with published cases in literature...
July 19, 2018: Pediatric Dermatology
https://www.readbyqxmd.com/read/30023461/iris-melanoma-presenting-as-childhood-glaucoma
#3
Briana C Gapsis, Nichelle A Warren, Matthew J Nutaitis, Leah A Bonaparte, Samuel L Cooper, Michael Ashenafi, Hans E Grossniklaus, George N Magrath
Purpose: To describe the natural history and management of a rare case of iris melanoma in a pediatric patient. Observations: A Caucasian female presented with left pupillary abnormalities at age 7, progressive iris changes at age 9, and markedly elevated intraocular pressure with advanced optic nerve cupping at 11 years of age. She was found to have a pigmented lesion overlying her iris and invading her angle. Trans-corneal fine needle aspirate biopsy demonstrated malignant melanoma of the iris...
September 2018: American Journal of Ophthalmology Case Reports
https://www.readbyqxmd.com/read/30023285/natural-history-of-children-and-adults-with-maple-syrup-urine-disease-in-the-nbs-msud-connect-registry
#4
Aileen Kenneson, Yetsa Osara, Theresa Pringle, Lauren Youngborg, Rani H Singh
No abstract text is available yet for this article.
June 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/30021957/differential-toxicity-of-cyanobacteria-isolated-from-marine-sponges-towards-echinoderms-and-crustaceans
#5
Ana Regueiras, Sandra Pereira, Maria Sofia Costa, Vitor Vasconcelos
Marine sponges and cyanobacteria have a long history of co-evolution, with documented genome adaptations in cyanobionts. Both organisms are known to produce a wide variety of natural compounds, with only scarce information about novel natural compounds produced by cyanobionts. In the present study, we aimed to address their toxicological potential, isolating cyanobacteria ( n = 12) from different sponge species from the coast of Portugal (mainland, Azores, and Madeira Islands). After large-scale growth, we obtained both organic and aqueous extracts to perform a series of ecologically-relevant bioassays...
July 18, 2018: Toxins
https://www.readbyqxmd.com/read/30020840/to-look-or-not-to-look-reward-selection-history-and-oculomotor-guidance
#6
Daniel Preciado, Jan Theeuwes
The current eye-tracking study examined the influence of reward on oculomotor performance, and the extent to which learned stimulus-reward associations interacted with voluntary oculomotor control with a modified paradigm based on the classical anti-saccade task. Participants were shown two equally salient stimuli simultaneously: a gray and a colored circle, and were instructed to make a fast saccade to one of them. During the first phase of the experiment, participants made a fast saccade towards the colored stimulus, and their performance determined a (cash) bonus...
July 18, 2018: Journal of Neurophysiology
https://www.readbyqxmd.com/read/30020484/herpes-simplex-virus-shedding-rate-surrogate-outcome-for-genital-herpes-recurrence-frequency-and-lesion-rates-and-phase-2-clinical-trials-end-point-for-evaluating-efficacy-of-antivirals
#7
Elfriede Agyemang, Amalia S Magaret, Stacy Selke, Christine Johnston, Larry Corey, Anna Wald
Background: We tested whether genital herpes simplex virus (HSV) shedding is an appropriate surrogate outcome for the clinical outcome of genital herpes lesions in studies of HSV-2 antiviral interventions. Methods: We analyzed prospective data from natural history studies and clinical trials of antiviral agents for HSV-2 in which HSV-2-seropositive participants provided self-collected anogenital swab specimens daily over ≥25 days for HSV DNA quantitation by polymerase chain reaction (PCR)...
July 17, 2018: Journal of Infectious Diseases
https://www.readbyqxmd.com/read/30019372/life-history-evolution-under-fluctuating-density-dependent-selection-and-the-adaptive-alignment-of-pace-of-life-syndromes
#8
Jonathan Wright, Geir H Bolstad, Yimen G Araya-Ajoy, Niels J Dingemanse
We present a novel perspective on life-history evolution that combines recent theoretical advances in fluctuating density-dependent selection with the notion of pace-of-life syndromes (POLSs) in behavioural ecology. These ideas posit phenotypic co-variation in life-history, physiological, morphological and behavioural traits as a continuum from the highly fecund, short-lived, bold, aggressive and highly dispersive 'fast' types at one end of the POLS to the less fecund, long-lived, cautious, shy, plastic and socially responsive 'slow' types at the other...
July 17, 2018: Biological Reviews of the Cambridge Philosophical Society
https://www.readbyqxmd.com/read/30019308/the-limb-girdle-muscular-dystrophies-is-treatment-on-the-horizon
#9
REVIEW
Mary Lynn Chu, Ellen Moran
There has been an ever-expanding list of the Limb-Girdle Muscular Dystrophies (LGMD). There are currently 8 subtypes of autosomal dominant (AD) and 26 subtypes of autosomal recessive (AR) LGMD. Despite continued research efforts to conquer this group of genetic neuromuscular disease, patients continue to be treated symptomatically with the aim of prevention or addressing complications. Mouse models have been helpful in clarifying disease pathogenesis as well as strategizing pathways for treatment. Discoveries in translational research as well as molecular therapeutic approaches have kept clinicians optimistic that more promising clinical trials will lead the way to finding the cure for these devastating disorders...
July 17, 2018: Neurotherapeutics: the Journal of the American Society for Experimental NeuroTherapeutics
https://www.readbyqxmd.com/read/30018757/consequences-of-habitat-fragmentation-on-the-reproductive-success-of-two-tillandsia-species-with-contrasting-life-history-strategies
#10
Roberto Sáyago, Mauricio Quesada, Ramiro Aguilar, Lorena Ashworth, Martha Lopezaraiza-Mikel, Silvana Martén-Rodríguez
Fragmentation of natural habitats generally has negative effects on the reproductive success of many plant species; however, little is known about epiphytic plants. We assessed the impact of forest fragmentation on plant-pollinator interactions and female reproductive success in two epiphytic Tillandsia species with contrasting life history strategies (polycarpic and monocarpic) in Chamela, Jalisco, Mexico, over three consecutive years. Hummingbirds were the major pollinators of both species and pollinator visitation rates were similar between habitat conditions...
August 2018: AoB Plants
https://www.readbyqxmd.com/read/30018750/medicinal-mushrooms-as-an-attractive-new-source-of-natural-compounds-for-future-cancer-therapy
#11
REVIEW
Artem Blagodatski, Margarita Yatsunskaya, Valeriia Mikhailova, Vladlena Tiasto, Alexander Kagansky, Vladimir L Katanaev
Medicinal mushrooms have been used throughout the history of mankind for treatment of various diseases including cancer. Nowadays they have been intensively studied in order to reveal the chemical nature and mechanisms of action of their biomedical capacity. Targeted treatment of cancer, non-harmful for healthy tissues, has become a desired goal in recent decades and compounds of fungal origin provide a vast reservoir of potential innovational drugs. Here, on example of four mushrooms common for use in Asian and Far Eastern folk medicine we demonstrate the complex and multilevel nature of their anticancer potential, basing upon different groups of compounds that can simultaneously target diverse biological processes relevant for cancer treatment, focusing on targeted approaches specific to malignant tissues...
June 26, 2018: Oncotarget
https://www.readbyqxmd.com/read/30018596/on-the-natural-history-of-flavin-based-electron-bifurcation
#12
REVIEW
Frauke Baymann, Barbara Schoepp-Cothenet, Simon Duval, Marianne Guiral, Myriam Brugna, Carole Baffert, Michael J Russell, Wolfgang Nitschke
Electron bifurcation is here described as a special case of the continuum of electron transfer reactions accessible to two-electron redox compounds with redox cooperativity. We argue that electron bifurcation is foremost an electrochemical phenomenon based on (a) strongly inverted redox potentials of the individual redox transitions, (b) a high endergonicity of the first redox transition, and (c) an escapement-type mechanism rendering completion of the first electron transfer contingent on occurrence of the second one...
2018: Frontiers in Microbiology
https://www.readbyqxmd.com/read/30017950/prevalence-of-naturally-occurring-strains-of-beauveria-bassiana-in-populations-of-coffee-berry-borer-hypothenemus-hampei-on-hawai-i-island-with-observations-on-coffee-plant-h-hampei-b-bassiana-interactions
#13
S P Wraight, S Galaini-Wraight, R L Howes, L A Castrillo, R I Carruthers, R H Smith, T K Matsumoto, L M Keith
Beauveria bassiana (Bb) strain GHA is a major component of an areawide pest management program for coffee berry borer (CBB) in Hawai'i. Recent studies have aimed to provide comprehensive assessments of the efficacy of the Bb-spray component of these programs for economic analyses; however, evaluations have been complicated by activity of naturally-occurring strains of this pathogen infecting CBB. Investigations were therefore undertaken to characterize these strains, assess their natural epizootic potential, and account for their contribution to CBB population suppression...
July 11, 2018: Journal of Invertebrate Pathology
https://www.readbyqxmd.com/read/30017760/primary-spinal-cord-small-cell-glioblastoma-a-case-report-and-literature-review
#14
Caro-Osorio Enrique, Herrera-Castro Jose C, Barbosa-Quintana Alvaro, Benvenutti-Regato Mario
BACKGROUND: and Importance: Approximately 2%-10% of all central nervous system tumors are primary spinal cord tumors (SCTs). Spinal cord glioblastoma is a rare tumor type accounting for 1%-3% of all SCTs and 7.5% of all spinal cord gliomas. Notably, the small-cell variant of spinal cord glioblastoma is even rarer with only two previously reported cases. CLINICAL PRESENTATION: We present herein a case report of a rare primary spinal cord glioblastoma in a 48-year-old patient with a 2-month history of numbness in the left arm and mild cervical pain radiating to the occipital zone...
July 11, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/30017675/postpartum-venous-thromboembolism-readmissions-in-the-united-states
#15
Timothy Wen, Jason D Wright, Dena Goffman, Mary E D'Alton, William J Mack, Frank J Attenello, Alexander M Friedman
BACKGROUND: There is limited data on when postpartum readmissions for thromboembolism occur after delivery hospitalizations on a population basis in the United States. OBJECTIVE: To characterize risk factors for and timing of postpartum venous thromboembolism (VTE) readmission after delivery hospitalization discharge. STUDY DESIGN: The Healthcare Cost and Utilization Project's Nationwide Readmissions Database for calendar years 2013 and 2014 was used to perform a retrospective cohort study evaluating risk for readmission for venous thromboembolism within 60 days of discharge from a delivery hospitalization...
July 11, 2018: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/30017653/european-expert-consensus-statement-on-therapeutic-goals-in-fabry-disease
#16
REVIEW
Christoph Wanner, Michael Arad, Ralf Baron, Alessandro Burlina, Perry M Elliott, Ulla Feldt-Rasmussen, Victor V Fomin, Dominique P Germain, Derralynn A Hughes, Ana Jovanovic, Ilkka Kantola, Aleš Linhart, Renzo Mignani, Lorenzo Monserrat, Mehdi Namdar, Albina Nowak, João-Paulo Oliveira, Alberto Ortiz, Maurizio Pieroni, Marco Spada, Anna Tylki-Szymańska, Camilla Tøndel, Miguel Viana-Baptista, Frank Weidemann, Max J Hilz
BACKGROUND: Fabry disease, an inherited lysosomal storage disorder, causes multi-organ pathology resulting in substantial morbidity and a reduced life expectancy. Although Fabry disease is an X-linked disorder, both genders may be affected, but generally to a lesser extent in females. The disease spectrum ranges from classic early-onset disease to non-classic later-onset phenotypes, with complications occurring in multiple organs or being confined to a single organ system depending on the stage of the disease...
June 12, 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/30017540/influence-of-sensorimotor-adaptation-and-learning-process-for-rehabilitation-on-the-functional-mobility-of-a-patient-with-traumatic-brain-injury-a-case-report
#17
Veenu Kumar, Rani Goyal
This case report reveals the implementation of sensorimotor adaptation and learning process for rehabilitation in a patient with traumatic brain injury to achieve optimum recovery which is permanent in nature in compliance to the disability rating scale. A twenty two year old gentleman who had a history of fall was diagnosed as having subarachnoid hemorrhage along with diffuse axonal injury of the brain and bilateral lung contusion with pneumothorax. He underwent a total of ten months of sensorimotor adaptation and learning process for rehabilitation, which achieved functional mobility with a walker...
June 28, 2018: Chinese Journal of Traumatology, Zhonghua Chuang Shang za Zhi
https://www.readbyqxmd.com/read/30017224/slow-progress-how-do-we-shift-the-paradigm-of-thinking-in-pediatric-thrombosis-and-anticoagulation
#18
Paul Monagle
Since Maureen Andrew began systematically describing thrombosis in children in 1994, there has been surprisingly slow process in advancing our knowledge in terms of diagnosis, prevention and treatment of thrombosis in children. There are a variety of reasons for this slow progress. Overwhelmingly the low incidence of thrombosis in children has been a major barrier. Second, the developmental, age related, changes in haemostasis mean that the physiology of haemostasis in children, and the interaction of the haemostatic system with anticoagulant drugs is constantly changing...
July 14, 2018: Thrombosis Research
https://www.readbyqxmd.com/read/30015297/disappearance-of-recurrent-pancreatitis-after-splenectomy-in-familial-chylomicronemia-syndrome
#19
Victoria Marco-Benedí, Itziar Lamiquiz-Moneo, Luis A Álvarez-Sala, Fernando Civeira
BACKGROUND AND AIMS: Recurrent pancreatitis is a severe complication of familial chylomicronemia syndrome (FCS) mainly secondary to lipoprotein lipase deficiency. The mechanism and interindividual variability of pancreatitis in FCS are not fully understood, but abnormalities in the drainage system of pancreatic veins could be involved. METHODS AND RESULTS: Two cases of typical FCS are described with a past history of recurrent pancreatitis that dramatically improved after splenectomy performed in both cases for reasons non-related to FCS...
June 21, 2018: Atherosclerosis
https://www.readbyqxmd.com/read/30015071/novel-natural-compounds-from-endophytic-fungi-with-anticancer-activity
#20
REVIEW
Shou-Jie Li, Xuan Zhang, Xiang-Hua Wang, Chang-Qi Zhao
Plant endophytes are microorganisms that live in healthy plant tissues in part or all of their life history without causing obvious symptoms of infection in the host plants. Endophytes, a new type of microbial resource that can produce a variety of biological constituents, have great values for research and broad prospects for development. This article reviewed the research and development progress of endophytic fungi with cytotoxic activity between 2014 and 2017, including endophytic fungi sources, microbial taxonomy, compound classification and cytotoxic activity...
July 7, 2018: European Journal of Medicinal Chemistry
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