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Bloom Syndrome

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https://www.readbyqxmd.com/read/29018016/successful-treatment-of-community-acquired-methicillin-resistant-staphylococcus-aureus-purulent-myopericarditis
#1
Henry DeYoung, Adam Bloom, Sally Tamayo
A previously healthy 48-year-old active duty man, who had been treated for an elbow abscess 3 weeks earlier, presented to an emergency department in Bahrain with tachycardia, pericardial friction rub and jugular venous distention. Cardiac tamponade was confirmed on transthoracic echocardiogram and he was taken for emergent pericardiocentesis. Pericardial fluid cultures grew community-acquired methicillin-resistant Staphylococcus aureus Despite ongoing treatment with intravenous vancomycin, he developed a recurrent fibrinous pericardial effusion and constrictive pericarditis requiring pericardiectomy...
October 10, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28988422/comparison-of-two-cytoreductive-regimens-for-%C3%AE-%C3%AE-t-cell-depleted-haploidentical-hsct-in-pediatric-malignancies-improved-engraftment-and-outcome-with-tbi-based-regimen
#2
Elad Jacoby, Nira Varda-Bloom, Gal Goldstein, Daphna Hutt, Chaim Churi, Helly Vernitsky, Amos Toren, Bella Bielorai
BACKGROUND: Graft manipulation using selective depletion of αβ-T cells provides a source of haploidentical hematopoietic stem cell transplantation (haplo-HSCT) enriched in effector cells. We report our experience implementing this haplo-HSCT for high-risk malignancies in pediatric patients focusing on the conditioning regimen. PROCEDURE: We performed a retrospective study of patients who underwent T-cell receptor αβ-depleted haplo-HSCT for high-risk pediatric malignancies...
October 8, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28978405/a-new-brct-binding-mode-in-topbp1-blm-helicase-interaction
#3
Georges Mer, Maria Victoria Botuyan
Tandem BRCT domains are phophoprotein binding modules. In this issue of Structure, Sun et al. (2017) show that a single BRCT domain in TopBP1 binds tightly and specifically to phosphorylated Bloom syndrome helicase (BLM). This work reveals a novel BRCT binding mode and suggests a similar mechanism for TopBP1 interaction with 53BP1.
October 3, 2017: Structure
https://www.readbyqxmd.com/read/28960803/clinical-report-warsaw-breakage-syndrome-with-small-radii-and-fibulae
#4
Sarah Eppley, Robert J Hopkin, Bryce Mendelsohn, Anne M Slavotinek
We present two new cases of Warsaw Breakage Syndrome (WABS), an autosomal recessive cohesinopathy, in sisters aged 13 and 11 years who both had compound heterozygous mutations in DDX11. After exclusion of Fanconi anemia, Bloom syndrome and Nijmegen breakage syndrome, whole exome sequencing revealed two novel variants-c.1523T>G, predicting (p.Leu508Arg) and c.1949-1G>A (IVS19-1G>A), that were confirmed with Sanger sequencing in both affected individuals. DDX11 encodes an iron-sulfur-containing DNA helicase, and mutations in this gene have been reported in the five WABS cases previously identified to date...
September 28, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28947735/a-role-for-tau-protein-in-maintaining-ribosomal-dna-stability-and-cytidine-deaminase-deficient-cell-survival
#5
Elias Bou Samra, Géraldine Buhagiar-Labarchède, Christelle Machon, Jérôme Guitton, Rosine Onclercq-Delic, Michael R Green, Olivier Alibert, Claude Gazin, Xavier Veaute, Mounira Amor-Guéret
Cells from Bloom's syndrome patients display genome instability due to a defective BLM and the downregulation of cytidine deaminase. Here, we use a genome-wide RNAi-synthetic lethal screen and transcriptomic profiling to identify genes enabling BLM-deficient and/or cytidine deaminase-deficient cells to tolerate constitutive DNA damage and replication stress. We found a synthetic lethal interaction between cytidine deaminase and microtubule-associated protein Tau deficiencies. Tau is overexpressed in cytidine deaminase-deficient cells, and its depletion worsens genome instability, compromising cell survival...
September 25, 2017: Nature Communications
https://www.readbyqxmd.com/read/28943928/recq-helicase-blm-regulates-prostate-cancer-cell-proliferation-and-apoptosis
#6
Xiaosong Qian, Sujuan Feng, Dawei Xie, Dalin Feng, Yihang Jiang, Xiaodong Zhang
Prostate cancer (PCa) is a common malignant tumor and the second leading cause of morbidity and mortality in men worldwide. Considering the prevalence and effects of PCa in males, an understanding of the molecular mechanisms underlying PCa tumorigenesis are essential and may provide novel therapeutic strategies for treating PCa. Bloom syndrome protein (BLM) is a member of the RecQ helicase family. The major function of BLM is to uncoil the double-stranded DNA structure. It has previously been demonstrated that BLM acts as a 'genome caretaker', and dysregulation of BLM function has been implicated in the development of multiple tumor types; however, its potential for inducing PCa tumorigenesis remains undetermined...
October 2017: Oncology Letters
https://www.readbyqxmd.com/read/28919440/structural-insight-into-blm-recognition-by-topbp1
#7
Luxin Sun, Yuhao Huang, Ross A Edwards, Sukmin Yang, Andrew N Blackford, Wojciech Niedzwiedz, J N Mark Glover
Topoisomerase IIβ binding protein 1 (TopBP1) is a critical protein-protein interaction hub in DNA replication checkpoint control. It was proposed that TopBP1 BRCT5 interacts with Bloom syndrome helicase (BLM) to regulate genome stability through either phospho-Ser304 or phospho-Ser338 of BLM. Here we show that TopBP1 BRCT5 specifically interacts with the BLM region surrounding pSer304, not pSer338. Our crystal structure of TopBP1 BRCT4/5 bound to BLM reveals recognition of pSer304 by a conserved pSer-binding pocket, and interactions between an FVPP motif N-terminal to pSer304 and a hydrophobic groove on BRCT5...
September 1, 2017: Structure
https://www.readbyqxmd.com/read/28854728/a-second-dose-of-kisspeptin-54-improves-oocyte-maturation-in-women-at-high-risk-of-ovarian-hyperstimulation-syndrome-a-phase-2-randomized-controlled-trial
#8
Ali Abbara, Sophie Clarke, Rumana Islam, Julia K Prague, Alexander N Comninos, Shakunthala Narayanaswamy, Deborah Papadopoulou, Rachel Roberts, Chioma Izzi-Engbeaya, Risheka Ratnasabapathy, Alexander Nesbitt, Sunitha Vimalesvaran, Rehan Salim, Stuart A Lavery, Stephen R Bloom, Les Huson, Geoffrey H Trew, Waljit S Dhillo
STUDY QUESTION: Can increasing the duration of LH-exposure with a second dose of kisspeptin-54 improve oocyte maturation in women at high risk of ovarian hyperstimulation syndrome (OHSS)? SUMMARY ANSWER: A second dose of kisspeptin-54 at 10 h following the first improves oocyte yield in women at high risk of OHSS. WHAT IS KNOWN ALREADY: Kisspeptin acts at the hypothalamus to stimulate the release of an endogenous pool of GnRH from the hypothalamus...
September 1, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28832357/recurrent-glomerular-disease-after-kidney-transplantation
#9
Christopher D Blosser, Roy D Bloom
PURPOSE OF REVIEW: With improving short-term kidney transplant outcomes, recurrent glomerular disease is being increasingly recognized as an important cause of chronic allograft failure. Further understanding of the risks and pathogenesis of recurrent glomerular disease enable informed transplant decisions, along with the development of preventive and treatment strategies. RECENT FINDINGS: Multiple observational studies have highlighted differences in rates and outcomes for various recurrent glomerular diseases, although these rates have not markedly improved over the last decade...
November 2017: Current Opinion in Nephrology and Hypertension
https://www.readbyqxmd.com/read/28827358/stalled-replication-forks-generate-a-distinct-mutational-signature-in-yeast
#10
Nicolai B Larsen, Sascha E Liberti, Ivan Vogel, Signe W Jørgensen, Ian D Hickson, Hocine W Mankouri
Proliferating cells acquire genome alterations during the act of DNA replication. This leads to mutation accumulation and somatic cell mosaicism in multicellular organisms, and is also implicated as an underlying cause of aging and tumorigenesis. The molecular mechanisms of DNA replication-associated genome rearrangements are poorly understood, largely due to methodological difficulties in analyzing specific replication forks in vivo. To provide an insight into this process, we analyzed the mutagenic consequences of replication fork stalling at a single, site-specific replication barrier (the Escherichia coli Tus/Ter complex) engineered into the yeast genome...
September 5, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28792069/bloom-syndrome-helicase-in-meiosis-pro-crossover-functions-of-an-anti-crossover-protein
#11
REVIEW
Talia Hatkevich, Jeff Sekelsky
The functions of the Bloom syndrome helicase (BLM) and its orthologs are well characterized in mitotic DNA damage repair, but their roles within the context of meiotic recombination are less clear. In meiotic recombination, multiple repair pathways are used to repair meiotic DSBs, and current studies suggest that BLM may regulate the use of these pathways. Based on literature from Saccharomyces cerevisiae, Arabidopsis thaliana, Mus musculus, Drosophila melanogaster, and Caenorhabditis elegans, we present a unified model for a critical meiotic role of BLM and its orthologs...
September 2017: BioEssays: News and Reviews in Molecular, Cellular and Developmental Biology
https://www.readbyqxmd.com/read/28718810/dna2-an-important-player-in-dna-damage-response-or-just-another-dna-maintenance-protein
#12
REVIEW
Elzbieta Pawłowska, Joanna Szczepanska, Janusz Blasiak
The human DNA2 (DNA replication helicase/nuclease 2) protein is expressed in both the nucleus and mitochondria, where it displays ATPase-dependent nuclease and helicase activities. DNA2 plays an important role in the removing of long flaps in DNA replication and long-patch base excision repair (LP-BER), interacting with the replication protein A (RPA) and the flap endonuclease 1 (FEN1). DNA2 can promote the restart of arrested replication fork along with Werner syndrome ATP-dependent helicase (WRN) and Bloom syndrome protein (BLM)...
July 18, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28674805/a-recessive-genetic-screen-for-components-of-the-rna-interference-pathway-performed-in-mouse-embryonic-stem-cells
#13
Melanie I Trombly, Xiaozhong Wang
Several key components of the RNA interference (RNAi) pathway were identified in genetic screens performed in non-mammalian model organisms. To identify components of the mammalian RNAi pathway, we developed a recessive genetic screen in mouse embryonic stem (ES) cells. Recessive genetic screens are feasible in ES cells that are Bloom-syndrome protein deficient (Blm-deficient). We constructed a reporter cell line in Blm-deficient ES cells to isolate RNAi mutants using a simple drug selection scheme. This chapter describes how we used retroviral gene-traps to mutagenize the reporter cell line and select for RNAi mutants...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28637615/cancer-predisposition-syndromes-associated-with-myeloid-malignancy
#14
REVIEW
Emily Quinn, Kim E Nichols
The majority of myeloid malignancies are caused by sporadic somatic events rather than cancer predisposition. Nonetheless, the identification of hereditary cancer predisposition syndromes is critical when caring for patients with myeloid malignancies since detection may direct decisions related to cancer treatment and surveillance. A positive genetic test result also has important implications for other family members who can use this information to undergo their own testing to determine their cancer risk. We review the demographics, genetic mechanisms of disease, diagnostic approach, malignancy risk, and management for the following five cancer predisposition syndromes associated with myeloid malignancies: Li-Fraumeni, constitutional mismatch repair deficiency, Werner, Bloom, and Nijmegen breakage...
April 2017: Seminars in Hematology
https://www.readbyqxmd.com/read/28611551/first-two-cases-of-bloom-syndrome-in-russia-lack-of-skin-manifestations-in-a-blm-c-1642c-t-p-q548x-homozygote-as-a-likely-cause-of-underdiagnosis
#15
Evgeny N Suspitsin, Farida I Sibgatullina, Lydia V Lyazina, Evgeny N Imyanitov
Bloom syndrome (BS) is an exceptionally rare hereditary disease. Typical manifestations of BS usually include growth deficiency, a characteristic facial appearance, skin hypersensitivity to ultraviolet irradiation, and a strong predisposition to early-onset cancers. We have previously described a recurrent BLM c.1642C>T (p.Q548X) mutation, which is present in heterozygous state in 0.2-0.6% of individuals of Slavic origin. Despite the high occurrence of this founder allele, BS has not yet been described in patients of Slavic ethnicity...
March 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/28572264/recommendations-for-childhood-cancer-screening-and-surveillance-in-dna-repair-disorders
#16
REVIEW
Michael F Walsh, Vivian Y Chang, Wendy K Kohlmann, Hamish S Scott, Christopher Cunniff, Franck Bourdeaut, Jan J Molenaar, Christopher C Porter, John T Sandlund, Sharon E Plon, Lisa L Wang, Sharon A Savage
DNA repair syndromes are heterogeneous disorders caused by pathogenic variants in genes encoding proteins key in DNA replication and/or the cellular response to DNA damage. The majority of these syndromes are inherited in an autosomal-recessive manner, but autosomal-dominant and X-linked recessive disorders also exist. The clinical features of patients with DNA repair syndromes are highly varied and dependent on the underlying genetic cause. Notably, all patients have elevated risks of syndrome-associated cancers, and many of these cancers present in childhood...
June 1, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28544931/role-for-rif1-interacting-partner-ddx1-in-blm-recruitment-to-dna-double-strand-breaks
#17
Lei Li, Ho-Yin Poon, Matthew R Hildebrandt, Elizabeth A Monckton, Devon R Germain, Richard P Fahlman, Roseline Godbout
Human Rap1-interacting factor 1 (RIF1) is an important player in the repair of DNA double strand breaks (DSBs). RIF1 acts downstream of 53BP1, with well-documented roles in class switch recombination in B-cells and inhibition of end resection initiation in BRCA1-defective cells. Here, we report that DEAD Box 1 (DDX1), a RNA helicase also implicated in DSB repair, interacts with RIF1, with co-localization of DDX1 and RIF1 observed throughout interphase. Recruitment of DDX1 to DSBs is dependent on RIF1, with RIF1 depletion abolishing DDX1-mediated facilitation of homologous recombination at DSBs...
July 2017: DNA Repair
https://www.readbyqxmd.com/read/28532167/how-the-marine-biotoxins-affect-human-health
#18
Silvia Morabito, Serena Silvestro, Caterina Faggio
Several marine microalgae produce dangerous toxins very damaging to human health, aquatic ecosystems and coastal resources. These Harmful Algal Blooms (HABs) in recent decades seem greatly increased regarding frequency, severity and biogeographical level, causing serious health risks as a consequence of the consumption of contaminated seafood. Toxins can cause various clinically described syndromes, characterised by a wide range of symptoms: amnesic (ASP), diarrhoetic (DSP), azaspirazid (AZP), neurotoxic (NSP) and paralytic (PSP) shellfish poisonings and ciguatera fish poisoning...
May 22, 2017: Natural Product Research
https://www.readbyqxmd.com/read/28529015/targeted-next-generation-sequencing-approach-in-patients-referred-for-silver-russell-syndrome-testing-increases-the-mutation-detection-rate-and-provides-decisive-information-for-clinical-management
#19
Robert Meyer, Lukas Soellner, Matthias Begemann, Severin Dicks, György Fekete, Nils Rahner, Klaus Zerres, Miriam Elbracht, Thomas Eggermann
OBJECTIVE: To investigate the contribution of differential diagnoses to the mutation spectrum of patients referred for Silver-Russell syndrome (SRS) testing. STUDY DESIGN: Forty-seven patients referred for molecular testing for SRS were examined after exclusion of one of the SRS-associated alterations. After clinical classification, a targeted next generation sequencing approach comprising 25 genes associated with other diagnoses or postulated as SRS candidate genes was performed...
August 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28463527/cytidine-deaminase-deficiency-impairs-sister-chromatid-disjunction-by-decreasing-parp-1-activity
#20
Simon Gemble, Géraldine Buhagiar-Labarchède, Rosine Onclercq-Delic, Christian Jaulin, Mounira Amor-Guéret
Bloom Syndrome (BS) is a rare genetic disease characterized by high levels of chromosomal instability and an increase in cancer risk. Cytidine deaminase (CDA) expression is downregulated in BS cells, leading to an excess of cellular dC and dCTP that reduces basal PARP-1 activity, compromising optimal Chk1 activation and reducing the efficiency of downstream checkpoints. This process leads to the accumulation of unreplicated DNA during mitosis and, ultimately, ultrafine anaphase bridge (UFB) formation. BS cells also display incomplete sister chromatid disjunction when depleted of cohesin...
June 3, 2017: Cell Cycle
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