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https://www.readbyqxmd.com/read/28211971/atypical-angelman-syndrome-due-to-a-mosaic-imprinting-defect-case-reports-and-review-of-the-literature
#1
Anna Le Fevre, Jasmin Beygo, Cheryl Silveira, Benjamin Kamien, Jill Clayton-Smith, Alison Colley, Karin Buiting, Tracy Dudding-Byth
Angelman syndrome (AS) is characterized by severe intellectual disability, limited, or absent speech and a generally happy demeanor. The four known etiological mechanisms; deletions, uniparental disomy, imprinting defects, and UBE3A mutation all affect expression of the UBE3A gene at 15q11-q13. An atypical phenotype is seen in individuals who are mosaic for a chromosome 15q11-q13 imprinting defect on the maternal allele. These patients present with a milder phenotype, often with hyperphagia and obesity or non-specific intellectual disability...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28207688/transmission-of-zika-virus-haiti-october-12-2015-september-10-2016
#2
Ito Journel, Lesly L Andrécy, Dudley Metellus, Jean S Pierre, Rose Murka Faublas, Stanley Juin, Amber M Dismer, David L Fitter, Daniel Neptune, Marie José Laraque, Salomon Corvil, Manise Pierre, Josiane Buteau, Donald Lafontant, Roopal Patel, Jean Frantz Lemoine, David W Lowrance, Macarthur Charles, Jacques Boncy, Paul Adrien
Zika virus disease is caused by infection with a flavivirus with broad geographic distribution and is most frequently transmitted by the bite of an infected mosquito. The disease was first identified in the World Health Organization's Region of the Americas in 2015 and was followed by a surge in reported cases of congenital microcephaly in Brazil; Zika virus disease rapidly spread to the rest of the region and the Caribbean (1), including Haiti. Infection with the virus is associated with adverse fetal outcomes (1) and rare neurologic complications in adults...
February 17, 2017: MMWR. Morbidity and Mortality Weekly Report
https://www.readbyqxmd.com/read/28207337/engaging-human-rights-in-the-response-to-the-evolving-zika-virus-epidemic
#3
Jennifer J K Rasanathan, Sarah MacCarthy, Debora Diniz, Els Torreele, Sofia Gruskin
In late 2015, an increase in the number of infants born with microcephaly in poor communities in northeast Brazil prompted investigation of antenatal Zika infection as the cause. Zika now circulates in 69 countries, and has affected pregnancies of women in 29 countries. Public health officials, policymakers, and international organizations are considering interventions to address health consequences of the Zika epidemic. To date, public health responses have focused on mosquito vector eradication, sexual and reproductive health services, knowledge and technology including diagnostic test and vaccine development, and health system preparedness...
February 16, 2017: American Journal of Public Health
https://www.readbyqxmd.com/read/28199840/citron-kinase-deficiency-leads-to-chromosomal-instability-and-tp53-sensitive-microcephaly
#4
Federico Tommaso Bianchi, Chiara Tocco, Gianmarco Pallavicini, Yifan Liu, Fiammetta Vernì, Chiara Merigliano, Silvia Bonaccorsi, Nadia El-Assawy, Lorenzo Priano, Marta Gai, Gaia Elena Berto, Alessandra Maria Adelaide Chiotto, Francesco Sgrò, Alessia Caramello, Laura Tasca, Ugo Ala, Francesco Neri, Salvatore Oliviero, Alessandro Mauro, Stephan Geley, Maurizio Gatti, Ferdinando Di Cunto
Mutations in citron (CIT), leading to loss or inactivation of the citron kinase protein (CITK), cause primary microcephaly in humans and rodents, associated with cytokinesis failure and apoptosis in neural progenitors. We show that CITK loss induces DNA damage accumulation and chromosomal instability in both mammals and Drosophila. CITK-deficient cells display "spontaneous" DNA damage, increased sensitivity to ionizing radiation, and defective recovery from radiation-induced DNA lesions. In CITK-deficient cells, DNA double-strand breaks increase independently of cytokinesis failure...
February 14, 2017: Cell Reports
https://www.readbyqxmd.com/read/28198446/a-mutation-identified-in-neonatal-microcephaly-destabilizes-zika-virus-ns1-assembly-in-vitro
#5
Deping Wang, Cheng Chen, Shengnan Liu, Han Zhou, Kailin Yang, Qi Zhao, Xiaoyun Ji, Chen Chen, Wei Xie, Zefang Wang, Li-Zhi Mi, Haitao Yang
An unprecedented epidemic of Zika virus (ZIKV) infection had spread to South and Central America. ZIKV infection was recently confirmed by CDC (the Centers for Disease Control and Prevention) to cause neonatal microcephaly, which posed a significant public health emergency of international concern. No specific vaccines or drugs are currently available to fight ZIKV infection. ZIKV nonstructural protein 1 (NS1) plays an essential role in viral replication and immune evasion. We determined the crystal structure of ZIKV NS1172-352, which forms a head-to-head, symmetric dimer with a unique 14-stranded β-ladder conserved among flaviviruses...
February 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28190459/mutations-in-inpp5k-cause-a-form-of-congenital-muscular-dystrophy-overlapping-marinesco-sj%C3%A3-gren-syndrome-and-dystroglycanopathy
#6
Daniel P S Osborn, Heather L Pond, Neda Mazaheri, Jeremy Dejardin, Christopher J Munn, Khaloob Mushref, Edmund S Cauley, Isabella Moroni, Maria Barbara Pasanisi, Elizabeth A Sellars, R Sean Hill, Jennifer N Partlow, Rebecca K Willaert, Jaipreet Bharj, Reza Azizi Malamiri, Hamid Galehdari, Gholamreza Shariati, Reza Maroofian, Marina Mora, Laura E Swan, Thomas Voit, Francesco J Conti, Yalda Jamshidi, M Chiara Manzini
Congenital muscular dystrophies display a wide phenotypic and genetic heterogeneity. The combination of clinical, biochemical, and molecular genetic findings must be considered to obtain the precise diagnosis and provide appropriate genetic counselling. Here we report five individuals from four families presenting with variable clinical features including muscular dystrophy with a reduction in dystroglycan glycosylation, short stature, intellectual disability, and cataracts, overlapping both the dystroglycanopathies and Marinesco-Sjögren syndrome...
February 1, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28185376/matchmaking-facilitates-the-diagnosis-of-an-autosomal-recessive-mitochondrial-disease-caused-by-biallelic-mutation-of-the-trna-isopentenyltransferase-trit1-gene
#7
Kristin D Kernohan, David A Dyment, Mihaela Pupavac, Zvi Cramer, Arran McBride, Genevieve Bernard, Isabella Straub, Martine Tetreault, Taila Hartley, Lijia Huang, Erick Sell, Jacek Majewski, David S Rosenblatt, Eric Shoubridge, Aziz Mhanni, Tara Myers, Virginia Proud, Samanta Vergano, Brooke Spangler, Emily Farrow, Jennifer Kussman, Nicole Safina, Carol Saunders, Kym M Boycott, Isabelle Thiffault
Deleterious variants in the same gene present in 2 or more families with overlapping clinical features provides convincing evidence of a disease-gene association; this can be a challenge in the study of ultra-rare diseases. To facilitate the identification of additional families, several groups have created "matching" platforms. We describe four individuals from three unrelated families "matched" by GeneMatcher and MatchMakerExchange. Individuals had microcephaly, developmental delay, epilepsy and recessive mutations in TRIT1...
February 10, 2017: Human Mutation
https://www.readbyqxmd.com/read/28185126/zika-virus-and-neuroscience-the-need-for-a-translational-collaboration
#8
Lavínia Schuler-Faccini, Paulo Roehe, Eduardo R Zimmer, André Quincozes-Santos, Adriano M de Assis, Elizabeth Obino Cirne Lima, Jorge Almeida Guimarães, Cesar Victora, Vivaldo Moura Neto, Diogo O Souza
Zika virus (ZIKV) has become a major challenge for scientists and health agencies. ZIKV's involvement with human fetal microcephaly and Guillain-Barré syndrome and its transmission through Aedes africanus and Aedes aegypti mosquitos highlighted the epidemiological and neurological risks associated to ZIKV infection. In 2013, ZIKV arrives in Brazil but the first outbreak in the country was reported in 2015. Here, we used the Web of Science as a search tool for comparing the evolution of world and Brazilian scientific research on dengue virus (DENV)-also present in mosquito-, ZIKV and microcephaly...
February 9, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28182948/zika-virus-pathogenesis-and-tissue-tropism
#9
REVIEW
Jonathan J Miner, Michael S Diamond
Although Zika virus (ZIKV) was isolated approximately 70 years ago, few experimental studies had been published prior to 2016. The recent spread of ZIKV to countries in the Western Hemisphere is associated with reports of microcephaly, congenital malformations, and Guillain-Barré syndrome. This has resulted in ZIKV being declared a public health emergency and has greatly accelerated the pace of ZIKV research and discovery. Within a short time period, useful mouse and non-human primate disease models have been established, and pre-clinical evaluation of therapeutics and vaccines has begun...
February 8, 2017: Cell Host & Microbe
https://www.readbyqxmd.com/read/28182667/environmental-and-social-change-drive-the-explosive-emergence-of-zika-virus-in-the-americas
#10
REVIEW
Sofia Ali, Olivia Gugliemini, Serena Harber, Alexandra Harrison, Lauren Houle, Javarcia Ivory, Sierra Kersten, Rebia Khan, Jenny Kim, Chris LeBoa, Emery Nez-Whitfield, Jamieson O'Marr, Emma Rothenberg, R Max Segnitz, Stephanie Sila, Anna Verwillow, Miranda Vogt, Adrienne Yang, Erin A Mordecai
Since Zika virus (ZIKV) was detected in Brazil in 2015, it has spread explosively across the Americas and has been linked to increased incidence of microcephaly and Guillain-Barré syndrome (GBS). In one year, it has infected over 500,000 people (suspected and confirmed cases) in 40 countries and territories in the Americas. Along with recent epidemics of dengue (DENV) and chikungunya virus (CHIKV), which are also transmitted by Aedes aegypti and Ae. albopictus mosquitoes, the emergence of ZIKV suggests an ongoing intensification of environmental and social factors that have given rise to a new regime of arbovirus transmission...
February 2017: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/28182608/prevalence-and-clinical-attributes-of-congenital-microcephaly-new-york-2013-2015
#11
Krishika A Graham, Deborah J Fox, Achala Talati, Cristian Pantea, Laura Brady, Sondra L Carter, Eric Friedenberg, Neil M Vora, Marilyn L Browne, Christopher T Lee
Congenital Zika virus infection can cause microcephaly and other severe fetal neurological anomalies (1). To inform microcephaly surveillance efforts and assess ascertainment sources, the New York State Department of Health and the New York City Department of Health and Mental Hygiene sought to determine the prevalence of microcephaly in New York during 2013-2015, before known importation of Zika virus infections. Suspected newborn microcephaly diagnoses were identified from 1) reports submitted by birth hospitals in response to a request and 2) queries of a hospital administrative discharge database for newborn microcephaly diagnoses...
February 10, 2017: MMWR. Morbidity and Mortality Weekly Report
https://www.readbyqxmd.com/read/28181357/post-embryonic-fish-brain-proliferation-zones-exhibit-neuroepithelial-type-gene-expression-profile
#12
E Dambroise, M Simion, T Bourquard, S Bouffard, B Rizzi, Y Jaszczyszyn, M Bourge, P Affaticati, A Heuzé, J Jouralet, J Edouard, S Brown, C Thermes, A Poupon, E Reiter, F Sohm, F Bourrat, J-S Joly
In mammals, neuroepithelial cells play an essential role in embryonic neurogenesis, whereas glial stem cells are the principal source of neurons at post-embryonic stages. By contrast, neuroepithelial-like stem/progenitor (NE) cells have been shown to be present throughout life in teleosts. We used 3-dimensional (3D) reconstructions of cleared transgenic wdr12:GFP medaka brains to demonstrate that this cell type is widespread in juvenile and to identify new regions containing NE cells. We established the gene expression profile of optic tectum (OT) NE cells by cell sorting followed by RNA-seq...
February 9, 2017: Stem Cells
https://www.readbyqxmd.com/read/28179633/band-like-calcification-with-simplified-gyration-and-polymicrogyria-report-of-10-new-families-and-identification-of-five-novel-ocln-mutations
#13
Mohamed S Abdel-Hamid, Ghada M H Abdel-Salam, Mahmoud Y Issa, Bayoumi A Emam, Maha S Zaki
Band-like calcification with simplified gyration and polymicrogyria (BLC-PMG) is an extremely rare autosomal recessive disorder with distinctive clinical and neuroimaging findings. To date, only 17 patients from 9 unrelated families with BLC-PMG have been reported worldwide. Herein, we describe a series of 13 new patients derived from 10 unrelated Egyptian families. Patients presented at early life with the classic phenotype including severe microcephaly, failure to acquire developmental skills, growth failure and the distinguished calcification patterns involving the cortex, thalami, basal ganglia and pons...
February 9, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28179396/the-antigenic-structure-of-zika-virus-and-its-relation-to-other-flaviviruses-implications-for-infection-and-immunoprophylaxis
#14
REVIEW
Franz X Heinz, Karin Stiasny
Zika virus was discovered ∼70 years ago in Uganda and maintained a low profile as a human disease agent in Africa and Asia. Only recently has it caused explosive outbreaks in previously unaffected regions, first in Oceania and then in the Americas since 2015. Of special concern is the newly identified link between congenital malformations (especially microcephaly) and Zika virus infections during pregnancy. At present, it is unclear whether Zika virus changed its pathogenicity or whether the huge number of infections allowed the recognition of a previously cryptic pathogenic property...
March 2017: Microbiology and Molecular Biology Reviews: MMBR
https://www.readbyqxmd.com/read/28177195/high-incidence-of-zika-virus-infection-detected-in-plasma-and-cervical-cytology-specimens-from-pregnant-women-in-guayaquil-ecuador
#15
Hector Zambrano, Jesse Waggoner, Karina León, Benjamin Pinsky, Ketty Vera, Marissa Schettino, Lisette Rivera, José Landivar, María Granda, Angela Lee, Gil Mor
Zika virus (ZIKV) infection during pregnancy has been linked to severe birth defects, and the epidemiologic situation of the ZIKV epidemic in Ecuador is poorly understood. Guayaquil, Ecuador, has a tropical climate and experiences frequent outbreaks of dengue and chikungunya virus, and in December 2015, ZIKV was identified. Given the well-documented effects of ZIKV in pregnancy, including microcephaly, we tested for the presence of ZIKV in both plasma and cervical cytology of pregnant women. We report the identification of a population of pregnant women with a high incidence of ZIKV infection detected in the plasma and lower reproductive tract...
February 2017: American Journal of Reproductive Immunology: AJRI
https://www.readbyqxmd.com/read/28176006/development-of-a-high-throughput-colorimetric-zika-virus-infection-assay
#16
Janis A Müller, Mirja Harms, Axel Schubert, Benjamin Mayer, Stephanie Jansen, Jean-Philippe Herbeuval, Detlef Michel, Thomas Mertens, Olli Vapalahti, Jonas Schmidt-Chanasit, Jan Münch
Zika virus (ZIKV) is an emerging pathogen that causes congenital infections which may result in birth defects, such as microcephaly. Currently, no approved treatment or vaccination is available. ZIKV can be readily detected in cell culture where virally infected cells are normally stained by specific antibodies. As ZIKV regularly causes a cytopathic effect, we were wondering whether this viral property can be used to quantitatively determine viral infectivity. We here describe the use of an 3-[4,5-dimethyl-2-thiazolyl]-2,5-diphenyl-2H-tetrazolium bromide-(MTT)-based cell viability assay that allows to determine ZIKV-induced cell death...
February 7, 2017: Medical Microbiology and Immunology
https://www.readbyqxmd.com/read/28173822/an-example-of-the-utility-of-genomic-analysis-for-fast-and-accurate-clinical-diagnosis-of-complex-rare-phenotypes
#17
Polona Le Quesne Stabej, Chela James, Louise Ocaka, Mehmet Tekman, Stephanie Grunewald, Emma Clement, Horia C Stanescu, Robert Kleta, Deborah Morrogh, Alistair Calder, Hywel J Williams, Maria Bitner-Glindzicz
BACKGROUND: We describe molecular diagnosis in a complex consanguineous family: four offspring presented with combinations of three distinctive phenotypes; non-syndromic hearing loss (NSHL), an unusual skeletal phenotype comprising multiple fractures, cranial abnormalities and diaphyseal expansion, and significant developmental delay with microcephaly. We performed Chromosomal Microarray Analysis on the offspring with either the skeletal or developmental delay phenotypes, and linkage analysis and whole exome sequencing (WES) on all four children, parents and maternal aunt...
February 7, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28168853/prenatal-and-postnatal-presentations-of-corpus-callosum-agenesis-with-polymicrogyria-caused-by-egp5-mutation
#18
Camille Maillard, Mara Cavallin, Kevin Piquand, Marion Philbert, Jean Philippe Bault, Anne Elodie Millischer, Despina Moshous, Marlène Rio, Cyril Gitiaux, Nathalie Boddaert, Cecile Masson, Sophie Thomas, Nadia Bahi-Buisson
EPG5-related Vici syndrome is a rare multisystem autosomal recessive disorder characterized by corpus callosum agenesis (ACC), hypopigmentation, cataracts, acquired microcephaly, failure to thrive, cardiomyopathy and profound developmental delay, and immunodeficiency. We report here the first case of prenatally diagnosed Vici syndrome with delayed gyration associated with ACC. Trio based exome sequencing allowed the identification of a compound heterozygous mutation in the EPG5 gene. Our patient subsequently demonstrated severe developmental delay, hypopigmentation, progressive microcephaly, and failure to thrive which led to suspicion of the diagnosis...
February 7, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28167751/axl-dependent-infection-of-human-fetal-endothelial-cells-distinguishes-zika-virus-from-other-pathogenic-flaviviruses
#19
Audrey Stéphanie Richard, Byoung-Shik Shim, Young-Chan Kwon, Rong Zhang, Yuka Otsuka, Kimberly Schmitt, Fatma Berri, Michael S Diamond, Hyeryun Choe
Although a causal relationship between Zika virus (ZIKV) and microcephaly has been established, it remains unclear why ZIKV, but not other pathogenic flaviviruses, causes congenital defects. Here we show that when viruses are produced in mammalian cells, ZIKV, but not the closely related dengue virus (DENV) or West Nile virus (WNV), can efficiently infect key placental barrier cells that directly contact the fetal bloodstream. We show that AXL, a receptor tyrosine kinase, is the primary ZIKV entry cofactor on human umbilical vein endothelial cells (HUVECs), and that ZIKV uses AXL with much greater efficiency than does DENV or WNV...
February 6, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28162995/cdk5rap2-is-required-to-maintain-the-germ-cell-pool-during-embryonic-development
#20
Sami Zaqout, Paraskevi Bessa, Nadine Krämer, Gisela Stoltenburg-Didinger, Angela M Kaindl
Gene products linked to microcephaly have been studied foremost for their role in brain development, while their function in the development of other organs has been largely neglected. Here, we report the critical role of Cdk5rap2 in maintaining the germ cell pool during embryonic development. We highlight that infertility in Cdk5rap2 mutant mice is secondary to a lack of spermatogenic cells in adult mice as a result of an early developmental defect in the germ cells through mitotic delay, prolonged cell cycle, and apoptosis...
February 14, 2017: Stem Cell Reports
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