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    1630 results match your criteria Bloom Syndrome Congenital Telangiectatic Erythema

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    Bloom's Syndrome: Clinical Spectrum, Molecular Pathogenesis, and Cancer Predisposition.
    Mol Syndromol 2017 Jan 5;8(1):4-23. Epub 2016 Nov 5.
    Department of Cellular and Molecular Medicine, University of Arizona Cancer Center, Tucson, Ariz., USA.
    Bloom's syndrome is an autosomal recessive disorder characterized by prenatal and postnatal growth deficiency, photosensitive skin changes, immune deficiency, insulin resistance, and a greatly increased risk of early onset of cancer and for the development of multiple cancers. Loss-of-function mutations of BLM, which codes for a RecQ helicase, cause Bloom's syndrome. The absence of a functional BLM protein causes chromosome instability, excessive homologous recombination, and a greatly increased number of sister chromatid exchanges that are pathognomonic of the syndrome. Read More

    A Helical Bundle in the N-terminal Domain of the BLM Helicase Mediates Dimer and Potentially Hexamer Formation.
    J Biol Chem 2017 Feb 22. Epub 2017 Feb 22.
    Northwest A&F University;
    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 human, 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. Read More

    Identifying the incidence of rash, Stevens-Johnson syndrome and toxic epidermal necrolysis in patients taking lamotrigine: a systematic review of 122 randomized controlled trials.
    An Bras Dermatol 2017 Jan-Feb;92(1):139-141
    University of California Irvine, Department of Dermatology - Irvine, California.
    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. Read More

    Prognostic Accuracy of Sepsis-3 Criteria for In-Hospital Mortality Among Patients With Suspected Infection Presenting to the Emergency Department.
    JAMA 2017 01;317(3):301-308
    Emergency Department, Hôpital Ambroise-Paré, Boulogne, France, and Paris Diderot University, INSERM UMRS 1144, Paris, France.
    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. Read More

    Oxidative stress, mitochondrial abnormalities and antioxidant defense in Ataxia-telangiectasia, Bloom syndrome and Nijmegen breakage syndrome.
    Redox Biol 2016 Dec 28;11:375-383. Epub 2016 Dec 28.
    Department of Experimental Pharmacology, Medical University of Bialystok, Szpitalna 37 Str., 15-295 Bialystok, Poland. Electronic address:
    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. Read More

    Bloom syndrome complex promotes FANCM recruitment to stalled replication forks and facilitates both repair and traverse of DNA interstrand crosslinks.
    Cell Discov 2016 20;2:16047. Epub 2016 Dec 20.
    Lab of Genetics, National Institute on Aging, National Institute of Health , Baltimore, MD, USA.
    The recruitment of FANCM, a conserved DNA translocase and key component of several DNA repair protein complexes, to replication forks stalled by DNA interstrand crosslinks (ICLs) is a step upstream of the Fanconi anemia (FA) repair and replication traverse pathways of ICLs. However, detection of the FANCM recruitment has been technically challenging so that its mechanism remains exclusive. Here, we successfully observed recruitment of FANCM at stalled forks using a newly developed protocol. Read More

    Bloom Syndrome Helicase Promotes Meiotic Crossover Patterning and Homolog Disjunction.
    Curr Biol 2017 Jan 15;27(1):96-102. Epub 2016 Dec 15.
    Curriculum in Genetics and Molecular Biology, 120 Mason Farm Road, University of North Carolina, Chapel Hill, NC 27599-7264, USA; Department of Biology, University of North Carolina, 120 South Road, Chapel Hill, NC 27599-3280, USA; Integrative Program in Biological and Genome Sciences, 250 Bell Tower Drive, University of North Carolina, Chapel Hill, NC 27599-7100, USA. Electronic address:
    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]. Read More

    Loss of RMI2 Increases Genome Instability and Causes a Bloom-Like Syndrome.
    PLoS Genet 2016 Dec 15;12(12):e1006483. Epub 2016 Dec 15.
    Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, Parkville, Victoria, Australia.
    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. Read More

    Successful treatment of mature B-cell lymphoma with rituximab-based chemotherapy in a patient with Bloom syndrome.
    Pediatr Blood Cancer 2016 Dec 14. Epub 2016 Dec 14.
    College of Medicine, Department of Pediatrics, Umm AlQura University, Makkah, Saudi Arabia.
    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. Read More

    [Bloom syndrome. Clinical manifestations and cromosomal study in a Mexican child].
    Gac Med Mex 2016 Nov - Dec;152(6):836-837
    Departamento de Dermatología, Hospital Universitario Dr. José Eleuterio González, Universidad Autónoma de Nuevo León, Monterrey, N.L., México.
    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. Read More

    Human RECQ Helicase Pathogenic Variants, Population Variation and "Missing" Diseases.
    Hum Mutat 2017 Feb 9;38(2):193-203. Epub 2016 Dec 9.
    Department of Genome Sciences, University of Washington, Seattle, Washington.
    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. Read More

    The Werner Syndrome Helicase Coordinates Sequential Strand Displacement and FEN1-Mediated Flap Cleavage during Polymerase δ Elongation.
    Mol Cell Biol 2017 Feb 19;37(3). Epub 2017 Jan 19.
    Department of Molecular Microbiology and Immunology, Institute for Genetic Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California, USA
    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. Read More

    RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus Infection.
    Pediatr Neurol 2017 Jan 13;66:59-62. Epub 2016 Sep 13.
    Department of Neurology, Children's National Medical Center, Washington, DC; Department of Integrated Systems Biology, George Washington University, Washington, DC; Department of Pediatrics, George Washington University, Washington, DC. Electronic address:
    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. Read More

    Congenital and perinatal complications of chikungunya fever: a Latin American experience.
    Int J Infect Dis 2016 Oct 13;51:85-88. Epub 2016 Sep 13.
    Centro Médico UCE, Santo Domingo, Dominican Republic.
    Background: During the years 2014 and 2015, the Region of the Americas underwent a devastating epidemic of chikungunya virus (CHIKV) of the Asian genotype, resulting in millions of affected individuals. However, epidemiological and clinical information on this experience is scarce. Prior knowledge of congenital and neonatal illness caused by CHIKV is limited and almost exclusively based on data obtained from a single outbreak of the East/Central/South African (ECSA) genotype. Read More

    Understanding photodermatoses associated with defective DNA repair: Syndromes with cancer predisposition.
    J Am Acad Dermatol 2016 Nov;75(5):855-870
    Department of Dermatology, Henry Ford Hospital, Detroit, Michigan. Electronic address:
    Hereditary photodermatoses are a spectrum of rare photosensitive disorders that are often caused by genetic deficiency or malfunction of various components of the DNA repair pathway. This results clinically in extreme photosensitivity, with many syndromes exhibiting an increased risk of cutaneous malignancies. This review will focus specifically on the syndromes with malignant potential, including xeroderma pigmentosum, Bloom syndrome, and Rothmund-Thomson syndrome. Read More

    Clinically significant cardiopulmonary events and the effect of definition standardization on apnea of prematurity management.
    J Perinatol 2017 Jan 29;37(1):88-90. Epub 2016 Sep 29.
    Department of Neonatology, Wichita Medical Research and Education Foundation, Wichita, KS, USA.
    Objective: To define the impact of care standardization on caffeine and cardiorespiratory monitoring at neonatal intensive care unit (NICU) discharge.

    Study Design: Electronic records were abstracted for infants aged 24-36 weeks gestation with birth weights appropriate for gestational age. Infants who died, transferred prior to discharge, had major pulmonary anomalies, required a home monitor for mechanical ventilation or had a family history of sudden infant death syndrome were excluded. Read More

    Joint SOGC-CCMG Opinion for Reproductive Genetic Carrier Screening: An Update for All Canadian Providers of Maternity and Reproductive Healthcare in the Era of Direct-to-Consumer Testing.
    J Obstet Gynaecol Can 2016 Aug;38(8):742-762.e3
    Vancouver BC.
    Objective: This guideline was written to update Canadian maternity care and reproductive healthcare providers on pre- and postconceptional reproductive carrier screening for women or couples who may be at risk of being carriers for autosomal recessive (AR), autosomal dominant (AD), or X-linked (XL) conditions, with risk of transmission to the fetus. Four previous SOGC- Canadian College of Medical Geneticists (CCMG) guidelines are updated and merged into the current document.

    Intended Users: All maternity care (most responsible health provider [MRHP]) and paediatric providers; maternity nursing; nurse practitioner; provincial maternity care administrator; medical student; and postgraduate resident year 1-7. Read More

    Cytidine Deaminase Deficiency Reveals New Therapeutic Opportunities against Cancer.
    Clin Cancer Res 2016 Sep 6. Epub 2016 Sep 6.
    Institut Curie, PSL Research University, UMR 3348, 91405 Orsay, France.
    Purpose: One of the main challenges in cancer therapy is the identification of molecular mechanisms mediating resistance or sensitivity to treatment. Cytidine deaminase (CDA) was reported to be downregulated in cells derived from patients with Bloom syndrome, a genetic disease associated with a strong predisposition to a wide range of cancers. The purpose of this study was to determine whether CDA deficiency could be associated with tumors from the general population and could constitute a predictive marker of susceptibility to antitumor drugs. Read More

    Mutator Phenotype and DNA Double-Strand Break Repair in BLM Helicase-Deficient Human Cells.
    Mol Cell Biol 2016 Dec 14;36(23):2877-2889. Epub 2016 Nov 14.
    Division of Genetics and Mutagenesis, National Institute of Health Sciences, Setagaya-ku, Tokyo, Japan
    Bloom syndrome (BS), an autosomal recessive disorder of the BLM gene, predisposes sufferers to various cancers. To investigate the mutator phenotype and genetic consequences of DNA double-strand breaks (DSBs) in BS cells, we developed BLM helicase-deficient human cells by disrupting the BLM gene. Cells with a loss of heterozygosity (LOH) due to homologous recombination (HR) or nonhomologous end joining (NHEJ) can be restored with or without site-directed DSB induction. Read More

    Adenocarcinoma of the Right Colon in a Patient with Bloom Syndrome.
    Case Rep Surg 2016 15;2016:3176842. Epub 2016 Aug 15.
    Division of Colorectal Surgery, University of Campinas, Campinas, SP, Brazil.
    Introduction. Bloom syndrome (BS) is an inherited disorder due to mutation in BLM gene. The diagnosis of BS should be considered in patients with growth retardation of prenatal onset, a photosensitive rash in a butterfly distribution over the cheeks, and an increased risk of cancer at an early age. Read More

    Combined Quantification of the Global Proteome, Phosphoproteome, and Proteolytic Cleavage to Characterize Altered Platelet Functions in the Human Scott Syndrome.
    Mol Cell Proteomics 2016 Oct 17;15(10):3154-3169. Epub 2016 Aug 17.
    From the ‡Leibniz-Institut für Analytische Wissenschaften-ISAS-e.V., Dortmund, Germany;
    The Scott syndrome is a very rare and likely underdiagnosed bleeding disorder associated with mutations in the gene encoding anoctamin-6. Platelets from Scott patients are impaired in various Ca(2+)-dependent responses, including phosphatidylserine exposure, integrin closure, intracellular protein cleavage, and cytoskeleton-dependent morphological changes. Given the central role of anoctamin-6 in the platelet procoagulant response, we used quantitative proteomics to understand the underlying molecular mechanisms and the complex phenotypic changes in Scott platelets compared with control platelets. Read More

    Oral Cancer-related Inherited Cancer Syndromes: A Comprehensive Review.
    J Contemp Dent Pract 2016 Jun 1;17(6):504-10. Epub 2016 Jun 1.
    Department of Diagnostic Sciences, Division of Oral Pathology College of Dentistry, Jazan University, Jazan, Kingdom of Saudi Arabia.
    Oral squamous cell carcinoma is the most common malignancy of the oral cavity, which is usually preceded by a myriad of oral potentially malignant disorders (OPMDs). In the classification of OPMDs, inherited cancer syndromes (ICSs) were proposed as one of the categories. Inherited cancer syndromes are genetic disorders in which inherited genetic mutation in one or more genes predispose the affected individuals to the development of cancer and may also cause its early onset. Read More

    FANCD2 limits BLM-dependent telomere instability in the alternative lengthening of telomeres pathway.
    Hum Mol Genet 2016 Aug 17;25(15):3255-3268. Epub 2016 Jul 17.
    Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto M5G 0A4, Canada
    Fanconi anemia and Bloom syndrome are genomic instability syndromes caused by mutations in proteins that participate in overlapping DNA repair and replication pathways. Here, we show that the monoubiquitinated form of the Fanconi Anemia protein FANCD2 acts in opposition to the BLM DNA helicase to restrain telomere replication and recombination in human cells that utilize the Alternative Lengthening of Telomeres (ALT) pathway. ALT relies on exchanges of telomeric DNA to maintain telomeres, a process that we show FANCD2 suppresses. Read More

    A balanced pyrimidine pool is required for optimal Chk1 activation to prevent ultrafine anaphase bridge formation.
    J Cell Sci 2016 Aug 6;129(16):3167-77. Epub 2016 Jul 6.
    Institut Curie, PSL Research University, UMR 3348, Unité Stress Génotoxiques et Cancer, Centre de Recherche, Orsay 91405, France CNRS UMR 3348, Centre Universitaire, Bât. 110, Orsay 91405, France Université Paris Sud, Université Paris Saclay, UMR3348, Centre Universitaire d'Orsay, Orsay 91405, France
    Cytidine deaminase (CDA) deficiency induces an excess of cellular dCTP, which reduces basal PARP-1 activity, thereby compromising complete DNA replication, leading to ultrafine anaphase bridge (UFB) formation. CDA dysfunction has pathological implications, notably in cancer and in Bloom syndrome. It remains unknown how reduced levels of PARP-1 activity and pyrimidine pool imbalance lead to the accumulation of unreplicated DNA during mitosis. Read More

    Temporal trends in nitrate utilization for acute heart failure in elderly emergency patients: A single-centre observational study.
    Arch Cardiovasc Dis 2016 Aug-Sep;109(8-9):449-56. Epub 2016 Jun 21.
    Emergency Department, Hôpital Pitié-Salpêtrière, AP-HP, 75013 Paris, France; Paris Sorbonne Université, UPMC Université Paris 6, UMRS Inserm 1166, IHU ICAN, 75013 Paris, France. Electronic address:
    Background: We previously conducted a pilot study that reported the safety of isosorbide dinitrate boluses for elderly emergency patients with acute heart failure syndrome.

    Aims: To assess the temporal trend in the rate of elderly patients treated with isosorbide dinitrate, and to evaluate subsequent outcome differences.

    Methods: This was a single-centre study. Read More

    DNA End Resection: Facts and Mechanisms.
    Genomics Proteomics Bioinformatics 2016 Jun 27;14(3):126-30. Epub 2016 May 27.
    Life Sciences Institute and Innovation Center for Cell Signaling Network, Zhejiang University, Hangzhou 310058, China. Electronic address:
    DNA double-strand breaks (DSBs), which arise following exposure to a number of endogenous and exogenous agents, can be repaired by either the homologous recombination (HR) or non-homologous end-joining (NHEJ) pathways in eukaryotic cells. A vital step in HR repair is DNA end resection, which generates a long 3' single-stranded DNA (ssDNA) tail that can invade the homologous DNA strand. The generation of 3' ssDNA is not only essential for HR repair, but also promotes activation of the ataxia telangiectasia and Rad3-related protein (ATR). Read More

    Endocr Pract 2016 Jul 24;22 Suppl 3:1-203. Epub 2016 May 24.
    Objective: Development of these guidelines is mandated by the American Association of Clinical Endocrinologists (AACE) Board of Directors and the American College of Endocrinology (ACE) Board of Trustees and adheres to published AACE protocols for the standardized production of clinical practice guidelines (CPGs).

    Methods: Recommendations are based on diligent review of clinical evidence with transparent incorporation of subjective factors.

    Results: There are 9 broad clinical questions with 123 recommendation numbers that include 160 specific statements (85 [53. Read More

    Lorcaserin in Obese and Overweight Patients Taking Prohibited Serotonergic Agents: A Retrospective Analysis.
    Clin Ther 2016 Jun 17;38(6):1498-509. Epub 2016 May 17.
    Formerly of Eisai Inc, Woodcliff Lake, New Jersey.
    Purpose: Lorcaserin is a selective serotonin 2C receptor (5-HT2C) agonist approved in the United States for use in chronic weight management as an adjunct to a reduced-calorie diet and increased physical activity. Its pharmacologic activity is limited to 5-HT subtype 2 receptors. The potency of lorcaserin for the 5-HT2C receptor is 14-fold greater than its potency for the 5-HT2A receptor and 61-fold greater than its potency for the 5-HT2B receptor. Read More

    Bromodeoxyuridine does not contribute to sister chromatid exchange events in normal or Bloom syndrome cells.
    Nucleic Acids Res 2016 Aug 16;44(14):6787-93. Epub 2016 May 16.
    European Research Institute for the Biology of Ageing, University Medical Center Groningen, University of Groningen, 9713 AV Groningen, The Netherlands Terry Fox Laboratory, BC Cancer Agency, Vancouver, BC V5Z 1L3, Canada Division of Hematology, Department of Medicine, University of British Columbia, Vancouver, BC V6T 1Z4, Canada
    Sister chromatid exchanges (SCEs) are considered sensitive indicators of genome instability. Detection of SCEs typically requires cells to incorporate bromodeoxyuridine (BrdU) during two rounds of DNA synthesis. Previous studies have suggested that SCEs are induced by DNA replication over BrdU-substituted DNA and that BrdU incorporation alone could be responsible for the high number of SCE events observed in cells from patients with Bloom syndrome (BS), a rare genetic disorder characterized by marked genome instability and high SCE frequency. Read More

    Aberrant BLM cytoplasmic expression associates with DNA damage stress and hypersensitivity to DNA-damaging agents in colorectal cancer.
    J Gastroenterol 2017 Mar 11;52(3):327-340. Epub 2016 May 11.
    Department of Sciences and Technologies, University of Sannio, Via Port'Arsa, 11, 82100, Benevento, Italy.
    Background: Bloom syndrome is a rare and recessive disorder characterized by loss-of-function mutations of the BLM gene, which encodes a RecQ 3'-5' DNA helicase. Despite its putative tumor suppressor function, the contribution of BLM to human sporadic colorectal cancer (CRC) remains poorly understood.

    Methods: The transcriptional regulation mechanism underlying BLM and related DNA damage response regulation in independent CRC subsets and a panel of derived cell lines was investigated by bioinformatics analysis, the transcriptomic profile, a CpG island promoter methylation assay, Western blot, and an immunolocalization assay. Read More

    A Clinic Model: Post-Intensive Care Syndrome and Post-Intensive Care Syndrome-Family.
    AACN Adv Crit Care 2016 Apr-Jun;27(2):204-11
    Elizabeth L. Huggins and Sarah L. Bloom are Adult-Gerontology Acute Care Nurse Practitioners, Department of Medicine, Vanderbilt University Medical Center (VUMC), 1161 21st Ave S, Suite AA-1214, Nashville, TN 37232-2102 Joanna L. Stollings is Clinical Pharmacy Specialist in the Medical Intensive Care Unit (MICU) and Pharmacist in the ICU Recovery Center, Dept of Pharmaceutical Services, VUMC. Mildred Camp was a patient in the MICU at VUMC. Carla M. Sevin is Assistant Professor, Director of the ICU Recovery Center, Department of Medicine, Division of Allergy, Pulmonary and Critical Care, VUMC. James C. Jackson is Neuropsychologist and Assistant Director of the ICU Recovery Center, Center for Health Services Research, Departments of Medicine and Psychiatry, VUMC, and Geriatric Research, Education and Clinical Center (GRECC) Service, Department of Veterans Affairs, Tennessee Valley Healthcare System, Nashville, Tennessee.
    The number of patients surviving critical illness in the United States has increased with advancements in medicine. Post-intensive care syndrome and post-intensive care syndrome-family are terms developed by the Society of Critical Care Medicine in order to address the cognitive, psychological, and physical sequelae emerging in patients and their families after discharge from the intensive care unit. In the United Kingdom and Europe, intensive care unit follow-up clinics have been used to address the complications of post-intensive care syndrome for some time. Read More

    Intrachromosomal recombination between highly diverged DNA sequences is enabled in human cells deficient in Bloom helicase.
    DNA Repair (Amst) 2016 May 6;41:73-84. Epub 2016 Apr 6.
    Department of Biological Sciences, University of South Carolina, Columbia, SC 29208, USA. Electronic address:
    Mutation of Bloom helicase (BLM) causes Bloom syndrome (BS), a rare human genetic disorder associated with genome instability, elevation of sister chromatid exchanges, and predisposition to cancer. Deficiency in BLM homologs in Drosophila and yeast brings about significantly increased rates of recombination between imperfectly matched sequences ("homeologous recombination," or HeR). To assess whether BLM deficiency provokes an increase in HeR in human cells, we transfected an HeR substrate into a BLM-null cell line derived from a BS patient. Read More

    Effect of Thoracentesis on Intubated Patients with Acute Lung Injury.
    Am Surg 2016 Mar;82(3):266-70
    Cedars-Sinai Medical Center, Los Angeles, California, USA.
    Pleural effusions occur frequently in mechanically ventilated patients, but no consensus exists regarding the clinical benefit of effusion drainage. We sought to determine the impact of thoracentesis on gas exchange in patients with differing severities of acute lung injury (ALI). A retrospective analysis was conducted on therapeutic thoracenteses performed on intubated patients in an adult surgical intensive care unit of a tertiary center. Read More

    Thyroid, Renal, and Breast Carcinomas, Chondrosarcoma, Colon Adenomas, and Ganglioneuroma: A New Cancer Syndrome, FAP, or Just Coincidence.
    Case Rep Med 2016 20;2016:2928084. Epub 2016 Mar 20.
    Department of Radiology, Faculty of Medicine, Al-Baha University, Saudi Arabia.
    We are presenting a case associated with papillary thyroid carcinoma, renal cell carcinoma, invasive mammary carcinoma, chondrosarcoma, benign ganglioneuroma, and numerous colon adenomas. The patient had a family history of colon cancer, kidney and bladder cancers, lung cancer, thyroid cancer, leukemia, and throat and mouth cancers. She was diagnosed with colonic villous adenoma at the age of 41 followed by thyroid, renal, and breast cancers and chondrosarcoma at the ages of 48, 64, 71, and 74, respectively. Read More

    BLM promotes the activation of Fanconi Anemia signaling pathway.
    Oncotarget 2016 May;7(22):32351-61
    University of Hawaii Cancer Center, University of Hawaii, Honolulu, HI, USA.
    Mutations in the human RecQ helicase, BLM, causes Bloom Syndrome, which is a rare autosomal recessive disorder and characterized by genomic instability and an increased risk of cancer. Fanconi Anemia (FA), resulting from mutations in any of the 19 known FA genes and those yet to be known, is also characterized by chromosomal instability and a high incidence of cancer. BLM helicase and FA proteins, therefore, may work in a common tumor-suppressor signaling pathway. Read More

    23andMe: a new two-sided data-banking market model.
    BMC Med Ethics 2016 Mar 31;17:19. Epub 2016 Mar 31.
    Medical Ethics and Legal Medicine Laboratory EA4569, Paris Descartes University, Centre Universitaire des Saints-Pères, Paris, France.
    Background: Since 2006, the genetic testing company 23andMe has collected biological samples, self-reported information, and consent documents for biobanking and research from more than 1,000,000 individuals (90% participating in research), through a direct-to-consumer (DTC) online genetic-testing service providing a genetic ancestry report and a genetic health report. However, on November 22, 2013, the Food and Drug Administration (FDA) halted the sale of genetic health testing, on the grounds that 23andMe was not acting in accordance with federal law, by selling tests of undemonstrated reliability as predictive tests for medical risk factors. Consumers could still obtain the genetic ancestry report, but they no longer had access to the genetic health report in the United States (US). Read More

    Algal bloom sedimentation induces variable control of lake eutrophication by phosphorus inactivating agents.
    Sci Total Environ 2016 Jul 24;557-558:479-88. Epub 2016 Mar 24.
    State Key Laboratory of Lake Science and Environment, Nanjing Institute of Geography and Limnology, Chinese Academy of Sciences, Nanjing 210008, China.
    Lake eutrophication typically occurs with a syndrome of algae breeding and biomass accumulation (e.g., algal blooms). Read More

    James L. German, a pioneer in early human genetic research turned 90.
    Am J Med Genet A 2016 Jun 26;170(6):1564-5. Epub 2016 Mar 26.
    Institut für Humangenetik, Universitätsklinikum Essen, Essen, Germany.
    In the early 1960s, J. German established the non-synchronous human DNA replication pattern in metaphases of cultured lymphocytes and fibroblasts. This could be used to distinguish several chromosomes of similar morphology. Read More

    Preferred transduction with AAV8 and AAV9 via thalamic administration in the MPS IIIB model: A comparison of four rAAV serotypes.
    Mol Genet Metab Rep 2016 Mar 7;6:48-54. Epub 2015 Dec 7.
    Department of Medicine, University of Florida, Gainesville, FL, USA.
    Sanfilippo syndrome type B (MPS IIIB) is a lysosomal storage disease caused by a deficiency of N-acetyl-glucosaminidase (NAGLU) activity. Since early therapeutic intervention is likely to yield the most efficacious results, we sought to determine the possible therapeutic utility of rAAV in early gene therapy based interventions. Currently, the application of recombinant adeno-associated virus (AAV) vectors is one of the most widely used gene transfer systems, and represents a promising approach in the treatment of MPS IIIB. Read More

    The SMC-5/6 Complex and the HIM-6 (BLM) Helicase Synergistically Promote Meiotic Recombination Intermediate Processing and Chromosome Maturation during Caenorhabditis elegans Meiosis.
    PLoS Genet 2016 Mar 24;12(3):e1005872. Epub 2016 Mar 24.
    Centre for Gene Regulation and Expression, University of Dundee, Dundee, United Kingdom.
    Meiotic recombination is essential for the repair of programmed double strand breaks (DSBs) to generate crossovers (COs) during meiosis. The efficient processing of meiotic recombination intermediates not only needs various resolvases but also requires proper meiotic chromosome structure. The Smc5/6 complex belongs to the structural maintenance of chromosome (SMC) family and is closely related to cohesin and condensin. Read More

    The Werner syndrome RECQ helicase targets G4 DNA in human cells to modulate transcription.
    Hum Mol Genet 2016 May 16;25(10):2060-2069. Epub 2016 Mar 16.
    Department of Pathology, Department of Genome Sciences, University of Washington, Seattle, WA, USA,
    The Werner syndrome (WS) is a prototypic adult Mendelian progeroid syndrome in which signs of premature aging are associated with genomic instability and an elevated risk of cancer. The WRN RECQ helicase protein binds and unwinds G-quadruplex (G4) DNA substrates in vitro, and we identified significant enrichment in G4 sequence motifs at the transcription start site and 5' ends of first introns (false discovery rate < 0.001) of genes down-regulated in WS patient fibroblasts. Read More

    Clinical evaluation of dengue and identification of risk factors for severe disease: protocol for a multicentre study in 8 countries.
    BMC Infect Dis 2016 Mar 11;16:120. Epub 2016 Mar 11.
    Oxford University Clinical Research Unit, 764 Vo Van Kiet Street, District 5, Ho Chi Minh City, Vietnam.
    Background: The burden of dengue continues to increase globally, with an estimated 100 million clinically apparent infections occurring each year. Although most dengue infections are asymptomatic, patients can present with a wide spectrum of clinical symptoms ranging from mild febrile illness through to severe manifestations of bleeding, organ impairment, and hypovolaemic shock due to a systemic vascular leak syndrome. Clinical diagnosis of dengue and identification of which patients are likely to develop severe disease remain challenging. Read More

    Camptothecin targets WRN protein: mechanism and relevance in clinical breast cancer.
    Oncotarget 2016 Mar;7(12):13269-84
    Laboratory of Molecular Gerontology, Biomedical Research Center, National Institute on Aging, NIH, Baltimore, Maryland, USA.
    Werner syndrome protein (WRN) is a RecQ helicase that participates in DNA repair, genome stability and cellular senescence. The five human RecQ helicases, RECQL1, Bloom, WRN, RECQL4 and RECQL5 play critical roles in DNA repair and cell survival after treatment with the anticancer drug camptothecin (CPT). CPT derivatives are widely used in cancer chemotherapy to inhibit topoisomerase I and generate DNA double-strand breaks during replication. Read More

    ECHS1 Deficiency as a Cause of Severe Neonatal Lactic Acidosis.
    JIMD Rep 2016 27;30:33-37. Epub 2016 Feb 27.
    Department of Pediatrics, Division of Human Genetics, The Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, 3501 Civic Center Blvd, Philadelphia, PA, 19104, USA.
    Mitochondrial short-chain enoyl-CoA hydratase deficiency (ECHS1D) is caused by mutations in ECHS1 (OMIM 602292) and is a recently identified inborn error of valine and fatty acid metabolism. This defect leads to secondary mitochondrial dysfunction. The majority of previously reported patients had the Leigh syndrome, with a median life expectancy of approximately 2 years. Read More

    A case of Bloom syndrome with uncommon clinical manifestations confirmed on genetic testing.
    Cutis 2016 Feb;97(2):E10-3
    Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, Jiangsu, China.
    Bloom syndrome, a rare autosomal-recessive disorder, characteristically presents with photosensitivity, telangiectatic facial erythema, and growth deficiency. We present a case of Bloom syndrome with uncommon clinical manifestations including alopecia areata, eyebrow hair loss, flat nose, reticular pigmentation, and short sharpened distal phalanges with fingernails that were wider than they were long. We detected the Bloom syndrome gene, BLM, which is one of the members of the RecQ family of DNA helicases, and found changes in 2 heterozygous nucleotide sites in the patient as well as her father and mother. Read More

    Plasmodium falciparum Bloom homologue, a nucleocytoplasmic protein, translocates in 3' to 5' direction and is essential for parasite growth.
    Biochim Biophys Acta 2016 May 23;1864(5):594-608. Epub 2016 Feb 23.
    Malaria Group, International Centre for Genetic Engineering and Biotechnology, P. O. Box 10504, Aruna Asaf Ali Marg, New Delhi 110067, India. Electronic address:
    Malaria caused by Plasmodium, particularly Plasmodium falciparum, is the most serious and widespread parasitic disease of humans. RecQ helicase family members are essential in homologous recombination-based error-free DNA repair processes in all domains of life. RecQ helicases present in each organism differ and several homologues have been identified in various multicellular organisms. Read More

    The HoMBReS and HoMBReS Por un Cambio Interventions to Reduce HIV Disparities Among Immigrant Hispanic/Latino Men.
    MMWR Suppl 2016 Feb 12;65(1):51-6. Epub 2016 Feb 12.
    Wake Forest School of Medicine, Winston-Salem, North Carolina.
    Hispanics/Latinos in the United States are affected disproportionately by human immunodeficiency virus (HIV) infection, acquired immunodeficiency syndrome (AIDS), and other sexually transmitted diseases (STDs); however, few effective evidence-based prevention interventions for this population exist. This report describes the Hombres Manteniendo Bienestar y Relaciones Saludables (Men Maintaining Wellbeing and Healthy Relationships) (HoMBReS) intervention, which was developed by a community-based, participatory research partnership in North Carolina and initially implemented during 2005-2009. HoMBReS is an example of an effective intervention that uses lay health advisors (known as Navegantes [navigators]) in the context of existing social networks (i. Read More

    Unusual Suspects in the Twilight Zone Between the Hsp90 Interactome and Carcinogenesis.
    Adv Cancer Res 2016 23;129:1-30. Epub 2015 Oct 23.
    Département de Biologie Cellulaire, Université de Genève, Sciences III, Geneva, Switzerland. Electronic address:
    The molecular chaperone Hsp90 has attracted a lot of interest in cancer research ever since cancer cells were found to be more sensitive to Hsp90 inhibition than normal cells. Why that is has remained a matter of debate and is still unclear. In addition to increased Hsp90 dependence for some mutant cancer proteins and modifications of the Hsp90 machinery itself, a number of other characteristics of cancer cells probably contribute to this phenomenon; these include aneuploidy and overall increased numbers and levels of defective and mutant proteins, which all contribute to perturbed proteostasis. Read More

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