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https://www.readbyqxmd.com/read/29343712/zika-virus-infection-in-pregnant-rhesus-macaques-causes-placental-dysfunction-and-immunopathology
#1
Alec J Hirsch, Victoria H J Roberts, Peta L Grigsby, Nicole Haese, Matthias C Schabel, Xiaojie Wang, Jamie O Lo, Zheng Liu, Christopher D Kroenke, Jessica L Smith, Meredith Kelleher, Rebecca Broeckel, Craig N Kreklywich, Christopher J Parkins, Michael Denton, Patricia Smith, Victor DeFilippis, William Messer, Jay A Nelson, Jon D Hennebold, Marjorie Grafe, Lois Colgin, Anne Lewis, Rebecca Ducore, Tonya Swanson, Alfred W Legasse, Michael K Axthelm, Rhonda MacAllister, Ashlee V Moses, Terry K Morgan, Antonio E Frias, Daniel N Streblow
Zika virus (ZIKV) infection during pregnancy leads to an increased risk of fetal growth restriction and fetal central nervous system malformations, which are outcomes broadly referred to as the Congenital Zika Syndrome (CZS). Here we infect pregnant rhesus macaques and investigate the impact of persistent ZIKV infection on uteroplacental pathology, blood flow, and fetal growth and development. Despite seemingly normal fetal growth and persistent fetal-placenta-maternal infection, advanced non-invasive in vivo imaging studies reveal dramatic effects on placental oxygen reserve accompanied by significantly decreased oxygen permeability of the placental villi...
January 17, 2018: Nature Communications
https://www.readbyqxmd.com/read/29316997/results-of-balloon-pulmonary-valvoplasty-in-children-with-noonan-s-syndrome
#2
Jonathon Holzmann, Shane M Tibby, Eric Rosenthal, Shakeel Qureshi, Gareth Morgan, Thomas Krasemann
Pulmonary valve stenosis is common in patients with Noonan's syndrome. The response to balloon valvoplasty varies. We assessed the correlation between re-intervention rate, immediate response, and the progress of the valve gradient over time after intervention. METHODS: This is a retrospective study conducted from 1995 to 2014. RESULTS: Of 14 patients identified, seven had re-intervention 28±54 months (range 3-149, median 3.3) after valvoplasty. These patients did not have a significant decrease in gradient after intervention...
January 10, 2018: Cardiology in the Young
https://www.readbyqxmd.com/read/29315099/recognizing-cuboid-syndrome
#3
Ashley D Zapf, Christine Morgan, Daniel C Herman
No abstract text is available yet for this article.
January 2018: Current Sports Medicine Reports
https://www.readbyqxmd.com/read/29285598/diagnosis-of-budd-chiari-syndrome
#4
Morgane Van Wettere, Onorina Bruno, Pierre-Emmanuel Rautou, Valérie Vilgrain, Maxime Ronot
Budd-Chiari syndrome (BCS) is defined by clinical and laboratory signs associated with partial or complete impairment of hepatic venous drainage in the absence of right heart failure or constrictive pericarditis. Primary BCS is the most frequent type and is a complication of hypercoagulable states, in particular myeloproliferative neoplasms. Secondary BCS involves tumor invasion or extrinsic compression. Most patients present with chronic BCS including a non-cirrhotic, dysmorphic, chronic liver disease with various degrees of fibrosis deposition...
December 28, 2017: Abdominal Radiology
https://www.readbyqxmd.com/read/29236593/role-of-genetic-testing-for-inherited-prostate-cancer-risk-philadelphia-prostate-cancer-consensus-conference-2017
#5
Veda N Giri, Karen E Knudsen, William K Kelly, Wassim Abida, Gerald L Andriole, Chris H Bangma, Justin E Bekelman, Mitchell C Benson, Amie Blanco, Arthur Burnett, William J Catalona, Kathleen A Cooney, Matthew Cooperberg, David E Crawford, Robert B Den, Adam P Dicker, Scott Eggener, Neil Fleshner, Matthew L Freedman, Freddie C Hamdy, Jean Hoffman-Censits, Mark D Hurwitz, Colette Hyatt, William B Isaacs, Christopher J Kane, Philip Kantoff, R Jeffrey Karnes, Lawrence I Karsh, Eric A Klein, Daniel W Lin, Kevin R Loughlin, Grace Lu-Yao, S Bruce Malkowicz, Mark J Mann, James R Mark, Peter A McCue, Martin M Miner, Todd Morgan, Judd W Moul, Ronald E Myers, Sarah M Nielsen, Elias Obeid, Christian P Pavlovich, Stephen C Peiper, David F Penson, Daniel Petrylak, Curtis A Pettaway, Robert Pilarski, Peter A Pinto, Wendy Poage, Ganesh V Raj, Timothy R Rebbeck, Mark E Robson, Matt T Rosenberg, Howard Sandler, Oliver Sartor, Edward Schaeffer, Gordon F Schwartz, Mark S Shahin, Neal D Shore, Brian Shuch, Howard R Soule, Scott A Tomlins, Edouard J Trabulsi, Robert Uzzo, Donald J Vander Griend, Patrick C Walsh, Carol J Weil, Richard Wender, Leonard G Gomella
Purpose Guidelines are limited for genetic testing for prostate cancer (PCA). The goal of this conference was to develop an expert consensus-driven working framework for comprehensive genetic evaluation of inherited PCA in the multigene testing era addressing genetic counseling, testing, and genetically informed management. Methods An expert consensus conference was convened including key stakeholders to address genetic counseling and testing, PCA screening, and management informed by evidence review. Results Consensus was strong that patients should engage in shared decision making for genetic testing...
December 13, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/29225339/early-speech-development-in-koolen-de-vries-syndrome-limited-by-oral-praxis-and-hypotonia
#6
Angela T Morgan, Leenke van Haaften, Karen van Hulst, Carol Edley, Cristina Mei, Tiong Yang Tan, David Amor, Simon E Fisher, David A Koolen
Communication disorder is common in Koolen de Vries syndrome (KdVS), yet its specific symptomatology has not been examined, limiting prognostic counselling and application of targeted therapies. Here we examine the communication phenotype associated with KdVS. Twenty-nine participants (12 males, 4 with KANSL1 variants, 25 with 17q21.31 microdeletion), aged 1.0-27.0 years were assessed for oral-motor, speech, language, literacy, and social functioning. Early history included hypotonia and feeding difficulties...
December 11, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29218851/clinical-experience-with-the-bcl2-inhibitor-venetoclax-in-combination-therapy-for-relapsed-and-refractory-acute-myeloid-leukemia-and-related-myeloid-malignancies
#7
Courtney D DiNardo, Caitlin R Rausch, Christopher Benton, Tapan Kadia, Nitin Jain, Naveen Pemmaraju, Naval Daver, Wendy Covert, Kayleigh R Marx, Morgan Mace, Elias Jabbour, Jorge Cortes, Guillermo Garcia-Manero, Farhad Ravandi, Kapil N Bhalla, Hagop Kantarjian, Marina Konopleva
INTRODUCTION: Venetoclax (VEN), a selective BCL2 inhibitor, has single-agent activity in relapsed and refractory (R/R) acute myeloid leukemia (AML) and efficacy in lower-intensity combinations for treatment-naïve elderly AML patients. VEN treatment combinations in R/R AML have not been previously reported. METHODS: All R/R myeloid patients (including AML, myelodysplastic syndrome (MDS), and blastic plasmacytoid dendritic cell neoplasm (BPDCN)) treated with VEN combinations in the salvage setting were reviewed...
December 8, 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/29193904/somatic-mosaicism-of-an-intragenic-fancb-duplication-in-both-fibroblast-and-peripheral-blood-cells-observed-in-a-fanconi-anemia-patient-leads-to-milder-phenotype
#8
Rajalakshmi S Asur, Danielle C Kimble, Francis P Lach, Moonjung Jung, Frank X Donovan, Aparna Kamat, Raymond J Noonan, James W Thomas, Morgan Park, Peter Chines, Adrianna Vlachos, Arleen D Auerbach, Agata Smogorzewska, Settara C Chandrasekharappa
BACKGROUND: Fanconi anemia (FA) is a rare disorder characterized by congenital malformations, progressive bone marrow failure, and predisposition to cancer. Patients harboring X-linked FANCB pathogenic variants usually present with severe congenital malformations resembling VACTERL syndrome with hydrocephalus. METHODS: We employed the diepoxybutane (DEB) test for FA diagnosis, arrayCGH for detection of duplication, targeted capture and next-gen sequencing for defining the duplication breakpoint, PacBio sequencing of full-length FANCB aberrant transcript, FANCD2 ubiquitination and foci formation assays for the evaluation of FANCB protein function by viral transduction of FANCB-null cells with lentiviral FANCB WT and mutant expression constructs, and droplet digital PCR for quantitation of the duplication in the genomic DNA and cDNA...
November 30, 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29192291/kif1bp-loss-in-mice-leads-to-defects-in-the-peripheral-and-central-nervous-system-and-perinatal-death
#9
Caroline S Hirst, Lincon A Stamp, Annette J Bergner, Marlene M Hao, Mai X Tran, Jan M Morgan, Matthias Dutschmann, Andrew M Allen, George Paxinos, Teri M Furlong, Sonja J McKeown, Heather M Young
Goldberg-Shprintzen syndrome is a poorly understood condition characterized by learning difficulties, facial dysmorphism, microcephaly, and Hirschsprung disease. GOSHS is due to recessive mutations in KIAA1279, which encodes kinesin family member 1 binding protein (KIF1BP, also known as KBP). We examined the effects of inactivation of Kif1bp in mice. Mice lacking Kif1bp died shortly after birth, and exhibited smaller brains, olfactory bulbs and anterior commissures, and defects in the vagal and sympathetic innervation of the gut...
November 30, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29160944/ketogenic-diet-suppresses-alcohol-withdrawal-syndrome-in-rats
#10
Ditte Dencker, Anna Molander, Morgane Thomsen, Chantal Schlumberger, Gitta Wortwein, Pia Weikop, Helene Benveniste, Nora D Volkow, Anders Fink-Jensen
BACKGROUND: Alcohol use disorder is under-diagnosed and under-treated, and up to 50% of alcohol abstinent patients diagnosed with alcohol dependence relapse within the first year of treatment. Current treatments for the maintenance of alcohol abstinence in patients with alcohol use disorder have limited efficacy, and there is an urgent need for novel treatment strategies. Decreased cerebral glucose metabolism and increased brain uptake of acetate was recently reported in heavy drinkers, relative to controls...
November 21, 2017: Alcoholism, Clinical and Experimental Research
https://www.readbyqxmd.com/read/29150856/defining-sepsis-on-the-wards-results-of-a-multi-centre-point-prevalence-study-comparing-two-sepsis-definitions
#11
T Szakmany, R Pugh, M Kopczynska, R M Lundin, B Sharif, P Morgan, G Ellis, J Abreu, S Kulikouskaya, K Bashir, L Galloway, H Al-Hassan, T Grother, P McNulty, S T Seal, A Cains, M Vreugdenhil, M Abdimalik, N Dennehey, G Evans, J Whitaker, E Beasant, C Hall, M Lazarou, C V Vanderpump, K Harding, L Duffy, A Guerrier Sadler, R Keeling, C Banks, S W Y Ng, S Y Heng, D Thomas, E W Puw, I Otahal, C Battle, O Minik, R A Lyons, J E Hall
Our aim was to prospectively determine the predictive capabilities of SEPSIS-1 and SEPSIS-3 definitions in the emergency departments and general wards. Patients with National Early Warning Score (NEWS) of 3 or above and suspected or proven infection were enrolled over a 24-h period in 13 Welsh hospitals. The primary outcome measure was mortality within 30 days. Out of the 5422 patients screened, 431 fulfilled inclusion criteria and 380 (88%) were recruited. Using the SEPSIS-1 definition, 212 patients had sepsis...
November 17, 2017: Anaesthesia
https://www.readbyqxmd.com/read/29116546/sir-gordon-morgan-holmes-1876-1965-one-of-the-founders-of-modern-neurology
#12
Jarosław Jerzy Sak, Andrzej Grzybowski, Jacek Baj
Sir Gordon Morgan Holmes (1876-1965) was one of the most important founders of modern neurology and a great teacher and scientist. He was the first scientist to challenge the theory of the unitary function of the cerebellum and described cerebellar disorders. Holmes together with Thomas Grainger Stewart (1877-1957) described 40 cases of the rebound phenomenon in cerebellar disease (Stewart-Holmes maneuver or Stewart-Holmes test). He also described the symptoms of inherited neurodegenerative spinocerebellar ataxia involving the olivary nucleus (Gordon-Holmes syndrome)...
November 7, 2017: Neurological Sciences
https://www.readbyqxmd.com/read/29114038/aberrant-rac1-cofilin-signaling-mediates-defects-in-dendritic-spines-synaptic-function-and-sensory-perception-in-fragile-x-syndrome
#13
Alexander Pyronneau, Qionger He, Jee-Yeon Hwang, Morgan Porch, Anis Contractor, R Suzanne Zukin
Fragile X syndrome (FXS) is the most common inherited cause of intellectual disabilities and a leading cause of autism. FXS is caused by a trinucleotide expansion in the gene FMR1 on the X chromosome. The neuroanatomical hallmark of FXS is an overabundance of immature dendritic spines, a factor thought to underlie synaptic dysfunction and impaired cognition. We showed that aberrantly increased activity of the Rho GTPase Rac1 inhibited the actin-depolymerizing factor cofilin, a major determinant of dendritic spine structure, and caused disease-associated spine abnormalities in the somatosensory cortex of FXS model mice...
November 7, 2017: Science Signaling
https://www.readbyqxmd.com/read/29094346/population-based-clinical-practice-research-datalink-study-using-algorithm-modelling-to-identify-the-true-burden-of-hidradenitis-suppurativa
#14
J R Ingram, S Jenkins-Jones, D W Knipe, C L I Morgan, R Cannings-John, V Piguet
BACKGROUND: Epidemiology data regarding hidradenitis suppurativa (HS) are conflicting and prevalence estimates vary 80-fold, from 0.05% in a population-based study, to 4%. OBJECTIVES: To assess the hypothesis that previous population-based studies under-estimated true HS prevalence by missing undiagnosed cases. METHODS: We performed a population-based observational and case-control study using the UK Clinical Practice Research Datalink (CPRD) linked to Hospital Episode Statistics data...
November 1, 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/29090079/prospective-investigation-of-foxp1-syndrome
#15
Paige M Siper, Silvia De Rubeis, Maria Del Pilar Trelles, Allison Durkin, Daniele Di Marino, François Muratet, Yitzchak Frank, Reymundo Lozano, Evan E Eichler, Morgan Kelly, Jennifer Beighley, Jennifer Gerdts, Arianne S Wallace, Heather C Mefford, Raphael A Bernier, Alexander Kolevzon, Joseph D Buxbaum
BACKGROUND: Haploinsufficiency of the forkhead-box protein P1 (FOXP1) gene leads to a neurodevelopmental disorder termed FOXP1 syndrome. Previous studies in individuals carrying FOXP1 mutations and deletions have described the presence of autism spectrum disorder (ASD) traits, intellectual disability, language impairment, and psychiatric features. The goal of the present study was to comprehensively characterize the genetic and clinical spectrum of FOXP1 syndrome. This is the first study to prospectively examine the genotype-phenotype relationship in multiple individuals with FOXP1 syndrome, using a battery of standardized clinical assessments...
2017: Molecular Autism
https://www.readbyqxmd.com/read/29089623/enzalutamide-inhibits-testosterone-induced-growth-of-human-prostate-cancer-xenografts-in-zebrafish-and-can-induce-bradycardia
#16
Nicole Melong, Shelby Steele, Morgan MacDonald, Alice Holly, Colin C Collins, Amina Zoubeidi, Jason N Berman, Graham Dellaire
The zebrafish has become a popular human tumour xenograft model, particularly for solid tumours including prostate cancer (PCa). To date PCa xenotransplantation studies in zebrafish have not been performed in the presence of testosterone, even when employing androgen-dependent cell models, such as the LNCaP cell line. Thus, with the goal of more faithfully modelling the hormonal milieu in which PCa develops in humans, we sought to determine the effects of exogenous testosterone on the growth of LNCaP, or androgen-independent C4-2 cells xenografted into zebrafish embryos...
October 31, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29071510/heritable-skeletal-disorders-arising-from-defects-in-processing-and-transport-of-type-i-procollagen-from-the-er-perspectives-on-possible-therapeutic-approaches
#17
Meritxell B Cutrona, Niamh E Morgan, Jeremy C Simpson
Rare bone disorders are a heterogeneous group of diseases, initially associated with mutations in type I procollagen (PC) genes. Recent developments from dissection at the molecular and cellular level have expanded the list of disease-causing proteins, revealing that disruption of the machinery that handles protein secretion can lead to failure in PC secretion and in several cases result in skeletal dysplasia. In parallel, cell-based in vitro studies of PC trafficking pathways offer clues to the identification of new disease candidate genes...
October 26, 2017: Handbook of Experimental Pharmacology
https://www.readbyqxmd.com/read/29061327/receipt-of-medication-and-behavioral-therapy-among-a-national-sample-of-school-aged-children-diagnosed-with-adhd
#18
Morgan Walls, Caitlin Allen, Howard Cabral, Lewis E Kazis, Megan Bair-Merritt
Objective In 2011, the American Academy of Pediatrics published practice guidelines for ADHD, recommending both medication and behavioral therapy for school-aged children. The current study examines associations between child/family characteristics and ADHD medication, behavioral, and combined therapy. Methods This study used data from the 2014 National Survey of the Diagnosis and Treatment of ADHD and Tourette Syndrome, a nationally-representative follow-up survey to the 2011-2012 National Survey of Children's Health...
October 20, 2017: Academic Pediatrics
https://www.readbyqxmd.com/read/29043208/phosphaturic-mesenchymal-tumor-pmt-exceptionally-rare-disease-yet-crucial-not-to-miss
#19
Amir Ghorbani-Aghbolaghi, Morgan Angus Darrow, Tao Wang
Phosphaturic mesenchymal tumors (PMTs) are very rare tumors which are frequently associated with Tumor Induced Osteomalacia (TIO), a paraneoplastic syndrome that manifests as renal phosphate wasting. The tumor cells produce a peptide hormone-like substance known as fibroblast growth factor 23 (FGF23), a physiologic regulator of phosphate levels. FGF23 decreases proximal tubule reabsorption of phosphates and inhibits 1-α-hydroxylase, which reduces levels of 1-α, 25-dihydroxyvitamine D3. Thus, overexpression of FGF23 by the tumor cells leads to increased excretion of phosphate in the urine, mobilization of calcium and phosphate from bones, and the reduction of osteoblastic activity, ultimately resulting in widespread osteomalacia...
July 2017: Autopsy & Case Reports
https://www.readbyqxmd.com/read/29039762/marine-derived-2-aminoimidazolone-alkaloids-leucettamine-b-related-polyandrocarpamines-inhibit-mammalian-and-protozoan-dyrk-clk-kinases
#20
Nadège Loaëc, Eletta Attanasio, Benoît Villiers, Emilie Durieu, Tania Tahtouh, Morgane Cam, Rohan A Davis, Aline Alencar, Mélanie Roué, Marie-Lise Bourguet-Kondracki, Peter Proksch, Emmanuelle Limanton, Solène Guiheneuf, François Carreaux, Jean-Pierre Bazureau, Michelle Klautau, Laurent Meijer
A large diversity of 2-aminoimidazolone alkaloids is produced by various marine invertebrates, especially by the marine Calcareous sponges Leucetta and Clathrina. The phylogeny of these sponges and the wide scope of 2-aminoimidazolone alkaloids they produce are reviewed in this article. The origin (invertebrate cells, associated microorganisms, or filtered plankton), physiological functions, and natural molecular targets of these alkaloids are largely unknown. Following the identification of leucettamine B as an inhibitor of selected protein kinases, we synthesized a family of analogues, collectively named leucettines, as potent inhibitors of DYRKs (dual-specificity, tyrosine phosphorylation regulated kinases) and CLKs (cdc2-like kinases) and potential pharmacological leads for the treatment of several diseases, including Alzheimer's disease and Down syndrome...
October 17, 2017: Marine Drugs
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