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Bloom Syndrome

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https://www.readbyqxmd.com/read/28421271/-hereditary-bone-tumors
#1
D Baumhoer
Hereditary bone tumors are rare and result from mutations affecting cell cycle regulation (e.g. retinoblastoma syndrome/RB1 and Li-Fraumeni syndrome/TP53, Gardner syndrome/APC), energy metabolism (enchondromatosis/IDH1/2), complex signaling cascades (multiple hereditary exostoses/EXT1/2) and DNA integrity (Rothmund-Thomson/RECQL4, Werner/WRN and Bloom syndromes/BLM). The majority of syndromes are incompletely understood and can lead to multiple benign tumors, of which some might undergo secondary malignant transformation over time (enchondromatosis: enchondromas, multiple hereditary exostoses: osteochondromas, Gardner syndrome: osteomas) or bone sarcomas, primarily osteosarcomas as primary (Li-Fraumeni, Rothmund-Thomson, Werner and Bloom syndromes) or secondary manifestation (retinoblastoma syndrome) of the disease...
April 18, 2017: Der Pathologe
https://www.readbyqxmd.com/read/28374243/development-of-recombinant-hsv-based-vaccine-vectors
#2
Richard Voellmy, David C Bloom, Nuria Vilaboa, Joyce Feller
Herpes simplex virus (HSV) causes significant morbidity on the human population through such clinical syndromes as cold sores, genital herpes, herpes stromal keratitis, and encephalitis. Attempts to generate efficacious vaccines to date have failed. We have recently described the use of a conditionally replication-competent HSV-1 vector to immunize mice against a lethal challenge of HSV-1. The unique feature of this vaccine vector is that its replication is tightly controlled and can only occur in the presence of local heat and the presence of a small molecule inducer (an antiprogestin)...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28363081/proposal-and-application-of-a-novel-disseminated-intravascular-coagulation-scoring-system-in-the-florida-manatee-trichechus-manatus-latirostris
#3
Ashley Barratclough, Ray L Ball, Ruth Francis Floyd, Roger L Reep, Bobbi J Conner
  Disseminated intravascular coagulopathy (DIC) is an acquired disorder of hemostasis resulting in activation of the coagulation and fibrinolytic pathways. It is reported secondarily to multiple disease processes and can be associated with increased mortality. Previous research at Tampa's Lowry Park Zoo (LPZ) demonstrated that Florida manatees ( Trichechus manatus latirostris) with cold stress syndrome (CSS) demonstrated thromboembolic disease. The object of this retrospective study was to establish the presence and clinical relevance of DIC in Florida manatees admitted to LPZ for rehabilitation from 07 March 2010 to 15 August 2015...
March 2017: Journal of Zoo and Wildlife Medicine: Official Publication of the American Association of Zoo Veterinarians
https://www.readbyqxmd.com/read/28338731/purification-and-enzymatic-characterization-of-gallus-gallus-blm-helicase
#4
Jing Shi, Na-Nv Liu, Yan-Tao Yang, Xu-Guang Xi
Mutations in human BLM helicase give rise to the autosomal recessive Bloom syndrome, which shows high predisposition to types of malignant tumours. Though lots of biochemical and structural investigations have shed lights on the helicase core, structural investigations of the whole BLM protein are still limited due to its low stability and production. Here by comparing with the expression systems and functions of other BLM homologues, we developed the heterologous high-level expression and high-yield purification systems for Gallus gallus BLM (gBLM) in Escherichia coli...
February 21, 2017: Journal of Biochemistry
https://www.readbyqxmd.com/read/28306229/the-2017-international-classification-of-the-ehlers-danlos-syndromes
#5
Fransiska Malfait, Clair Francomano, Peter Byers, John Belmont, Britta Berglund, James Black, Lara Bloom, Jessica M Bowen, Angela F Brady, Nigel P Burrows, Marco Castori, Helen Cohen, Marina Colombi, Serwet Demirdas, Julie De Backer, Anne De Paepe, Sylvie Fournel-Gigleux, Michael Frank, Neeti Ghali, Cecilia Giunta, Rodney Grahame, Alan Hakim, Xavier Jeunemaitre, Diana Johnson, Birgit Juul-Kristensen, Ines Kapferer-Seebacher, Hanadi Kazkaz, Tomoki Kosho, Mark E Lavallee, Howard Levy, Roberto Mendoza-Londono, Melanie Pepin, F Michael Pope, Eyal Reinstein, Leema Robert, Marianne Rohrbach, Lynn Sanders, Glenda J Sobey, Tim Van Damme, Anthony Vandersteen, Caroline van Mourik, Nicol Voermans, Nigel Wheeldon, Johannes Zschocke, Brad Tinkle
The Ehlers-Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. Over the past two decades, the Villefranche Nosology, which delineated six subtypes, has been widely used as the standard for clinical diagnosis of EDS. For most of these subtypes, mutations had been identified in collagen-encoding genes, or in genes encoding collagen-modifying enzymes. Since its publication in 1998, a whole spectrum of novel EDS subtypes has been described, and mutations have been identified in an array of novel genes...
March 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28306227/the-international-consortium-on-the-ehlers-danlos-syndromes
#6
Lara Bloom, Peter Byers, Clair Francomano, Brad Tinkle, Fransiska Malfait
Since 1998, two developments have led to concerns that the EDS nosology needs to be substantially revised. The first development was the clinical and molecular characterization of several new EDS variants, which substantially broadened the molecular basis underlying EDS. The second was the growing concern, in the absence of genetic diagnosis, that the hypermobile type of EDS had an expanded phenotype, may be genetically heterogeneous, and that the diagnostic criteria currently in use were inadequate. Furthermore, there is a dire need for the development of guidelines for management for each type of EDS to allow both the specialist and the generalist to care for affected individuals and their families...
March 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28279982/a-prosurvival-dna-damage-induced-cytoplasmic-interferon-response-is-mediated-by-end-resection-factors-and-is-limited-by-trex1
#7
Erkin Erdal, Syed Haider, Jan Rehwinkel, Adrian L Harris, Peter J McHugh
Radiotherapy and chemotherapy are effective treatment methods for many types of cancer, but resistance is common. Recent findings indicate that antiviral type I interferon (IFN) signaling is induced by these treatments. However, the underlying mechanisms still need to be elucidated. Expression of a set of IFN-stimulated genes comprises an IFN-related DNA damage resistance signature (IRDS), which correlates strongly with resistance to radiotherapy and chemotherapy across different tumors. Classically, during viral infection, the presence of foreign DNA in the cytoplasm of host cells can initiate type I IFN signaling...
February 15, 2017: Genes & Development
https://www.readbyqxmd.com/read/28228481/a-helical-bundle-in-the-n-terminal-domain-of-the-blm-helicase-mediates-dimer-and-potentially-hexamer-formation
#8
Jing Shi, Wei-Fei Chen, Bo Zhang, San-Hong Fan, Xia Ai, Na-Nv Liu, Stephane Rety, Xu-Guang Xi
Helicases play a critical role in processes such as replication or recombination by unwinding double-stranded DNA; mutations of these genes can therefore have devastating biological consequences. In humans, mutations in genes of three members of the RecQ family helicases (blm, wrn, and recq4) give rise to three strikingly distinctive clinical phenotypes: Bloom syndrome, Werner syndrome, and Rothmund-Thomson syndrome, respectively. However, the molecular basis for these varying phenotypic outcomes is unclear, in part because a full mechanistic description of helicase activity is lacking...
April 7, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28225977/identifying-the-incidence-of-rash-stevens-johnson-syndrome-and-toxic-epidermal-necrolysis-in-patients-taking-lamotrigine-a-systematic-review-of-122-randomized-controlled-trials
#9
Romi Bloom, Kyle T Amber
Lamotrigine is an antiepileptic drug used for the treatment of epilepsy, bipolar disorder and numerous off-label uses. The development of rash significantly affects its use. The most concerning of these adverse reactions is Stevens-Johnson syndrome/toxic epidermal necrolysis. We performed a systematic review of randomized controlled trials using lamotrigine as a monotherapy to quantify the incidence of cutaneous reactions, particularly Stevens-Johnson syndrome/toxic epidermal necrolysis. Of a total of 4,364 papers regarding lamotrigine, 122 studies met our inclusion and exclusion criteria...
January 2017: Anais Brasileiros de Dermatologia
https://www.readbyqxmd.com/read/28114554/prognostic-accuracy-of-sepsis-3-criteria-for-in-hospital-mortality-among-patients-with-suspected-infection-presenting-to-the-emergency-department
#10
MULTICENTER STUDY
Yonathan Freund, Najla Lemachatti, Evguenia Krastinova, Marie Van Laer, Yann-Erick Claessens, Aurélie Avondo, Céline Occelli, Anne-Laure Feral-Pierssens, Jennifer Truchot, Mar Ortega, Bruno Carneiro, Julie Pernet, Pierre-Géraud Claret, Fabrice Dami, Ben Bloom, Bruno Riou, Sébastien Beaune
Importance: An international task force recently redefined the concept of sepsis. This task force recommended the use of the quick Sequential Organ Failure Assessment (qSOFA) score instead of systemic inflammatory response syndrome (SIRS) criteria to identify patients at high risk of mortality. However, these new criteria have not been prospectively validated in some settings, and their added value in the emergency department remains unknown. Objective: To prospectively validate qSOFA as a mortality predictor and compare the performances of the new sepsis criteria to the previous ones...
January 17, 2017: JAMA: the Journal of the American Medical Association
https://www.readbyqxmd.com/read/28114093/-cotard-s-syndrome-case-report-and-a-brief-review-of-literature
#11
N P Moschopoulos, S Kaprinis, J Nimatoudis
The term "Cotard's syndrome" is used to describe a number of clinical features, mostly hypochondriac and nihilistic delusions, the most characteristic of which are the ideas "I am dead" and "my internal organs do not exist". Besides, anxious and depressed mood, delusions of damnation, possession and immortality, suicidal and self-mutilating behavior are included. The first description of the syndrome was made in 1880 by Cotard, who presented the case of a female patient in a lecture. He originally named it "hypochondriac delusion", and some years later "delusion of negations", while it was named "Cotard delusion" after his death...
October 2016: Psychiatrikē, Psychiatriki
https://www.readbyqxmd.com/read/28063379/oxidative-stress-mitochondrial-abnormalities-and-antioxidant-defense-in-ataxia-telangiectasia-bloom-syndrome-and-nijmegen-breakage-syndrome
#12
REVIEW
Mateusz Maciejczyk, Bozena Mikoluc, Barbara Pietrucha, Edyta Heropolitanska-Pliszka, Malgorzata Pac, Radosław Motkowski, Halina Car
Rare pleiotropic genetic disorders, Ataxia-telangiectasia (A-T), Bloom syndrome (BS) and Nijmegen breakage syndrome (NBS) are characterised by immunodeficiency, extreme radiosensitivity, higher cancer susceptibility, premature aging, neurodegeneration and insulin resistance. Some of these functional abnormalities can be explained by aberrant DNA damage response and chromosomal instability. It has been suggested that one possible common denominator of these conditions could be chronic oxidative stress caused by endogenous ROS overproduction and impairment of mitochondrial homeostasis...
April 2017: Redox Biology
https://www.readbyqxmd.com/read/27998982/the-human-recq4-helicase-contains-a-functional-recq-c-terminal-region-rqc-that-is-essential-for-activity
#13
Aditya Mojumdar, Matteo De March, Francesca Marino, Silvia Onesti
RecQ helicases are essential in the maintenance of genome stability. Five paralogues (RecQ1, Bloom, Werner, RecQ4, and RecQ5) are found in human cells, with distinct but overlapping roles. Mutations in human RecQ4 give rise to three distinct genetic disorders (Rothmund-Thomson, RAPADILINO, and Baller-Gerold syndromes), characterized by genetic instability, growth deficiency, and predisposition to cancer. Previous studies suggested that RecQ4 was unique because it did not seem to contain a RecQ C-terminal region (RQC) found in the other RecQ paralogues; such a region consists of a zinc domain and a winged helix domain and plays an important role in enzyme activity...
March 10, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/27989672/bloom-syndrome-helicase-promotes-meiotic-crossover-patterning-and-homolog-disjunction
#14
Talia Hatkevich, Kathryn P Kohl, Susan McMahan, Michaelyn A Hartmann, Andrew M Williams, Jeff Sekelsky
In most sexually reproducing organisms, crossover formation between homologous chromosomes is necessary for proper chromosome disjunction during meiosis I. During meiotic recombination, a subset of programmed DNA double-strand breaks (DSBs) are repaired as crossovers, with the remainder becoming noncrossovers [1]. Whether a repair intermediate is designated to become a crossover is a highly regulated decision that integrates several crossover patterning processes, both along chromosome arms (interference and the centromere effect) and between chromosomes (crossover assurance) [2]...
January 9, 2017: Current Biology: CB
https://www.readbyqxmd.com/read/27977684/loss-of-rmi2-increases-genome-instability-and-causes-a-bloom-like-syndrome
#15
Damien F Hudson, David J Amor, Amber Boys, Kathy Butler, Lorna Williams, Tao Zhang, Paul Kalitsis
Bloom syndrome is a recessive human genetic disorder with features of genome instability, growth deficiency and predisposition to cancer. The only known causative gene is the BLM helicase that is a member of a protein complex along with topoisomerase III alpha, RMI1 and 2, which maintains replication fork stability and dissolves double Holliday junctions to prevent genome instability. Here we report the identification of a second gene, RMI2, that is deleted in affected siblings with Bloom-like features. Cells from homozygous individuals exhibit elevated rates of sister chromatid exchange, anaphase DNA bridges and micronuclei...
December 2016: PLoS Genetics
https://www.readbyqxmd.com/read/27966805/successful-treatment-of-mature-b-cell-lymphoma-with-rituximab-based-chemotherapy-in-a-patient-with-bloom-syndrome
#16
Wasil Jastaniah
This report presents a case of Bloom syndrome (BS) in a consanguineous Saudi family. The patient, an 11-year-old male with mature B-cell lymphoma, had minimal therapeutic response and significant dose-limiting toxicity with standard chemotherapy treatment. He later responded successfully to a rituximab-based chemotherapy protocol. This case highlights that the rituximab-based chemotherapy protocol is an effective and safe treatment alternative for mature B-cell lymphoma in patients with BS. Further trials are warranted to investigate this modality of treatment...
December 14, 2016: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/27861482/-bloom-syndrome-clinical-manifestations-and-cromosomal-study-in-a-mexican-child
#17
Gloria María Rosales-Solis, César Adrián Martínez-Longoria, Guillermo Antonio Guerrero-González, Jorge Ocampo-Garza, Jorge Ocampo-Candiani
Bloom syndrome is an extremely rare inherited disorder. We present a case of Bloom syndrome with a chromosomal study in a Mexican five-year-old patient who presented growth retardation, narrow facies with poikiloderma, café-au-lait, macules and photosensitivity.
November 2016: Gaceta Médica de México
https://www.readbyqxmd.com/read/27859906/human-recq-helicase-pathogenic-variants-population-variation-and-missing-diseases
#18
Wenqing Fu, Alessio Ligabue, Kai J Rogers, Joshua M Akey, Raymond J Monnat
Heritable loss of function mutations in the human RECQ helicase genes BLM, WRN, and RECQL4 cause Bloom, Werner, and Rothmund-Thomson syndromes, cancer predispositions with additional developmental or progeroid features. In order to better understand RECQ pathogenic and population variation, we systematically analyzed genetic variation in all five human RECQ helicase genes. A total of 3,741 unique base pair-level variants were identified, across 17,605 potential mutation sites. Direct counting of BLM, RECQL4, and WRN pathogenic variants was used to determine aggregate and disease-specific carrier frequencies...
February 2017: Human Mutation
https://www.readbyqxmd.com/read/27849570/the-werner-syndrome-helicase-coordinates-sequential-strand-displacement-and-fen1-mediated-flap-cleavage-during-polymerase-%C3%AE-elongation
#19
Baomin Li, Sita Reddy, Lucio Comai
The Werner syndrome protein (WRN) suppresses the loss of telomeres replicated by lagging-strand synthesis by a yet to be defined mechanism. Here, we show that whereas either WRN or the Bloom syndrome helicase (BLM) stimulates DNA polymerase δ progression across telomeric G-rich repeats, only WRN promotes sequential strand displacement synthesis and FEN1 cleavage, a critical step in Okazaki fragment maturation, at these sequences. Helicase activity, as well as the conserved winged-helix (WH) motif and the helicase and RNase D C-terminal (HRDC) domain play important but distinct roles in this process...
February 1, 2017: Molecular and Cellular Biology
https://www.readbyqxmd.com/read/27843092/rmnd1-related-leukoencephalopathy-with-temporal-lobe-cysts-and-hearing-loss-another-mendelian-mimicker-of-congenital-cytomegalovirus-infection
#20
Nicole Ulrick, Amy Goldstein, Cas Simons, Ryan J Taft, Guy Helman, Amy Pizzino, Miriam Bloom, Julie Vogt, Karen Pysden, Daria Diodato, Diego Martinelli, Ahmad Monavari, Daniela Buhas, Clara D M van Karnebeek, Imen Dorboz, Odile Boespflug-Tanguy, Diana Rodriguez, Martine Tétreault, Jacek Majewski, Genevieve Bernard, Yi Shiau Ng, Robert McFarland, Adeline Vanderver
BACKGROUND: Leukoencephalopathy with temporal lobe cysts may be associated with monogenetic conditions such as Aicardi-Goutières syndrome or RNASET2 mutations and with congenital infections such as cytomegalovirus. In view of the fact that congenital cytomegalovirus is difficult to confirm outside the neonatal period, excluding a Mendelian disorder is extremely relevant, changing family planning and medical management in affected families. We performed diagnostic testing in individuals with leukoencephalopathy with temporal lobe cysts without a definitive diagnosis of congenital cytomegalovirus infection...
January 2017: Pediatric Neurology
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