1,908 results match your criteria Bloom Syndrome Congenital Telangiectatic Erythema


Comparison of Outcomes of Coronary Artery Disease Treated by Percutaneous Coronary Intervention in 3 Different Age Groups (<45, 46-65, and >65 Years).

Am J Cardiol 2021 Jun 16. Epub 2021 Jun 16.

Department of Cardiology, Alfred Health, Victoria, Australia; Department of Medicine, University of Melbourne, Victoria, Australia; BakerIDI Heart and Diabetes Institute, Melbourne, Victoria, Australia; Monash University, Victoria, Australia. Electronic address:

There is paucity of data examining long-term outcomes of premature coronary artery disease (CAD). We aimed to investigate the short- and long-term clinical outcomes of patients with premature CAD treated by percutaneous coronary intervention (PCI) compared to older cohorts. We analyzed data from 27,869 patients who underwent PCI from 2005-2017 enrolled in a multicenter PCI registry. Read More

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Genetic characterization of short stature patients with overlapping features of growth hormone insensitivity syndromes.

J Clin Endocrinol Metab 2021 Jun 16. Epub 2021 Jun 16.

Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.

Context And Objective: Growth hormone insensitivity (GHI) in children is characterized by short stature, functional IGF-I deficiency and normal or elevated serum GH concentrations. The clinical and genetic etiology of GHI is expanding. We undertook genetic characterization of short stature patients referred with suspected GHI and features which overlapped with known GH-IGF-I axis defects. Read More

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Antibodies elicited by mRNA-1273 vaccination bind more broadly to the receptor binding domain than do those from SARS-CoV-2 infection.

Sci Transl Med 2021 Jun 8. Epub 2021 Jun 8.

Basic Sciences Division and Computational Biology Program, Fred Hutchinson Cancer Research Center; Seattle, WA 98109, USA.

The emergence of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) variants with mutations in key antibody epitopes has raised concerns that antigenic evolution could erode adaptive immunity elicited by prior infection or vaccination. The susceptibility of immunity to viral evolution is shaped in part by the breadth of epitopes targeted by antibodies elicited by vaccination or natural infection. To investigate how human antibody responses to vaccines are influenced by viral mutations, we used deep mutational scanning to compare the specificity of polyclonal antibodies elicited by either two doses of the mRNA-1273 COVID-19 vaccine or natural infection with SARS-CoV-2. Read More

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Spread of a SARS-CoV-2 variant through Europe in the summer of 2020.

Nature 2021 Jun 7. Epub 2021 Jun 7.

Biozentrum, University of Basel, Basel, Switzerland.

Following its emergence in late 2019, the spread of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has been tracked via phylogenetic analysis of viral genome sequences in unprecedented detail. While the virus spread globally in early 2020 before borders closed, intercontinental travel has since been greatly reduced. However, within Europe travel resumed in the summer of 2020. Read More

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Hip Arthroscopy for Femoroacetabular Impingement: Minimal Clinically Important Difference Rates Decline From 1- to 5-Year Outcomes.

Arthrosc Sports Med Rehabil 2021 Apr 30;3(2):e351-e358. Epub 2021 Jan 30.

NYU Langone Orthopedic Hospital, New York, New York, U.S.A.

Purpose: To correlate patient-reported outcomes (PROs) and minimal clinically important difference (MCID) achievement rates after hip arthroscopy for femoroacetabular impingement syndrome (FAI).

Methods: Patients with linically diagnosed FAI who underwent primary hip arthroscopy from September 2012 to March 2014 with a minimum of 5-year outcomes were identified. Patients undergoing labral debridement, microfracture, bilateral procedures, with evidence of dysplasia, Tönnis grade >1, and joint space <2 mm were excluded. Read More

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Acute exposure to microcystin-LR induces hepatopancreas toxicity in the Chinese mitten crab (Eriocheir sinensis).

Arch Toxicol 2021 May 11. Epub 2021 May 11.

Key Laboratory of Aquatic Nutrition and Feed Science of Jiangsu Province, National Experimental Teaching Center for Animal Science, College of Animal Science and Technology, Nanjing Agricultural University, No. 1 Weigang Road, Nanjing, 210095, Jiangsu Province, People's Republic of China.

The Chinese mitten crab is an important economic species in the Chinese aquaculture industry due to its rich nutritional value and distinct flavor. The hepatopancreas is a popular edible part of the Chinese mitten crab, and therefore, hepatopancreatic health directly determines its quality. However, a large-scale outbreak of hepatopancreatic necrosis syndrome ("Shuibiezi" disease in Chinese), which is caused by abiotic agents correlated with cyanobacteria bloom outbreaks, adversely affects the Chinese mitten crab breeding industry. Read More

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Retrospective Detection of SARS-CoV-2 in Symptomatic Patients prior to Widespread Diagnostic Testing in Southern California.

Clin Infect Dis 2021 May 3. Epub 2021 May 3.

Department of Pathology & Laboratory Medicine, David Geffen School of Medicine, University of California Los Angeles (UCLA), California, USA.

Background: Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has caused one of the worst pandemics in recent history. Few reports have revealed that SARS-CoV-2 was spreading in the United States as early as the end of January. In this study, we aimed to determine if SARS-CoV-2 had been circulating in the Los Angeles (LA) area at a time when access to diagnostic testing for coronavirus disease 2019 (COVID-19) was severely limited. Read More

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Extremely High Cell-free DNA Levels Observed in Renal Allograft Patient With SARS-CoV-2 Infection.

Transplant Direct 2021 May 23;7(5):e691. Epub 2021 Apr 23.

David Geffen School of Medicine at UCLA, Department of Nephrology, Los Angeles, CA.

Beyond its widely recognized morbidity and mortality, coronavirus disease 2019 poses an additional health risk to renal allograft recipients. Detection and measurement of donor-derived cell-free DNA (dd-cfDNA), expressed as a fraction of the total cell-free DNA (cfDNA), has emerged as a noninvasive biomarker for allograft rejection. Here, we present a case report of a patient who was infected with severe acute respiratory syndrome coronavirus 2, 11 mo post-kidney transplant. Read More

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Fenfluramine repurposing from weight loss to epilepsy: What we do and do not know.

Pharmacol Ther 2021 Apr 22;226:107866. Epub 2021 Apr 22.

Division of Clinical and Experimental Pharmacology, Department of Internal Medicine and Therapeutics, University of Pavia, Pavia, Italy.

In 2020, racemic-fenfluramine was approved in the U.S. and Europe for the treatment of seizures associated with Dravet syndrome, through a restricted/controlled access program aimed at minimizing safety risks. Read More

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Overview of Australian and New Zealand harmful algal species occurrences and their societal impacts in the period 1985 to 2018, including a compilation of historic records.

Harmful Algae 2021 02 6;102:101848. Epub 2020 Jul 6.

NSW Food Authority, PO Box 6682, Silverwater, New South Wales 811, Australia.

Similarities and differences between Australia and New Zealand in Harmful Algal species occurrences and Harmful Algal Events impacting on human society (HAEDAT) are reported and factors that explain their differences explored. Weekly monitoring of harmful phytoplankton and biotoxins commenced in Australia in 1986 and in New Zealand in 1993. Anecdotal historic HAB records in both countries are also catalogued. Read More

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February 2021

Toxic marine microalgae and noxious blooms in the Mediterranean Sea: A contribution to the Global HAB Status Report.

Harmful Algae 2021 02 12;102:101843. Epub 2020 Jun 12.

Department of Life and Environmental Sciences, Università Politecnica delle Marche, 60131 Ancona, Italy. Electronic address:

We review the spatial distribution of toxic marine microalgal species and the impacts of all types of harmful algal events (Harmful Algal Blooms, HABs) in the Mediterranean Sea (MS), including the Black Sea, the Sea of Marmara, coastal lagoons and transitional waters, based on two databases compiled in the Ocean Biogeographic Information System (OBIS). Eighty-four potentially toxic species have been detected in the MS (2,350 records), of which 16 described from these waters between 1860 and 2014 and a few suspected to have been introduced. More than half of these species (46) produce toxins that may affect human health, the remainders ichthyotoxic substances (29) or other types of toxins (9). Read More

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February 2021

Statins Are Associated with Improved 28-day Mortality in Patients Hospitalized with SARS-CoV-2 Infection.

medRxiv 2021 Apr 6. Epub 2021 Apr 6.

Background: Statins may be protective in viral infection and have been proposed as treatment in severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) infection.

Objective: We evaluated the effect of statins on mortality in four groups hospitalized with (SARS-CoV-2) infection (continued statin, newly initiated statin, discontinued statin, never on statin).

Design: In a single center cohort study of 1179 patients hospitalized with SARS-CoV-2 infection, the outcome of death, Intensive Care Unit (ICU) admission or hospital discharge was evaluated. Read More

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Complete map of SARS-CoV-2 RBD mutations that escape the monoclonal antibody LY-CoV555 and its cocktail with LY-CoV016.

Cell Rep Med 2021 Apr 5;2(4):100255. Epub 2021 Apr 5.

Basic Sciences and Computational Biology, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA.

Monoclonal antibodies and antibody cocktails are a promising therapeutic and prophylaxis for coronavirus disease 2019 (COVID-19). However, ongoing evolution of severe acute respiratory syndrome-coronavirus-2 (SARS-CoV-2) can render monoclonal antibodies ineffective. Here, we completely map all of the mutations to the SARS-CoV-2 spike receptor-binding domain (RBD) that escape binding by a leading monoclonal antibody, LY-CoV555, and its cocktail combination with LY-CoV016. Read More

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Perfluorooctane sulfonate alternatives and metabolic syndrome in adults: New evidence from the Isomers of C8 Health Project in China.

Environ Pollut 2021 Aug 3;283:117078. Epub 2021 Apr 3.

Guangdong Provincial Engineering Technology Research Center of Environmental Pollution and Health Risk Assessment, Department of Occupational and Environmental Health, School of Public Health, Sun Yat-sen University, Guangzhou, 510080, China. Electronic address:

Chlorinated polyfluoroalkyl ether sulfonates (Cl-PFESAs), are ubiquitous alternatives to perfluorooctane sulfonate (PFOS), a widely used poly- and perfluoroalkyl substance (PFAS). Despite in vivo and in vitro evidence of metabolic toxicity, no study has explored associations of Cl-PFESAs concentrations with metabolic syndrome (MetS) in a human population. To help address this data gap, we quantified 32 PFAS, including 2 PFOS alternative Cl-PFESAs (6:2 and 8:2 Cl-PFESAs) in serum from 1228 adults participating in the cross-sectional Isomers of C8 Health Project in China study. Read More

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Bloom syndrome in a Mexican American family with rhabdomyosarcoma: evidence of a Mexican founder mutation.

Cold Spring Harb Mol Case Stud 2021 Apr 8;7(2). Epub 2021 Apr 8.

Greehey Children's Cancer Research Institute, UT Health San Antonio, San Antonio, Texas 78229, USA.

Bloom syndrome is a rare autosomal recessive disorder with less than 300 cases reported in the literature. Bloom syndrome is characterized by chromosome instability, physical stigmata, growth deficiency, immunodeficiency, and a predisposition to cancer, most commonly leukemias, although solid tumors are reported as well. Bloom syndrome occurs in multiple ethnic groups with a higher incidence in persons of Ashkenazi Jewish origin. Read More

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High BLM Expression Predicts Poor Clinical Outcome and Contributes to Malignant Progression in Human Cholangiocarcinoma.

Front Oncol 2021 22;11:633899. Epub 2021 Mar 22.

Department of Hepatobiliary Surgery, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.

Molecular mechanisms underlying the tumorigenesis of a highly malignant cancer, cholangiocarcinoma (CCA), are still obscure. In our study, the CCA expression profile data were acquired from The Cancer Genome Atlas (TCGA) database, and differentially expressed genes (DEGs) in the TCGA-Cholangiocarcinoma (TCGA-CHOL) data set were utilized to construct a co-expression network weighted gene co-expression network analysis (WGCNA). The blue gene module associated with the histopathologic grade of CCA was screened. Read More

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Pulmonary imaging in coronavirus disease 2019 (COVID-19): a series of 140 Latin American children.

Pediatr Radiol 2021 Apr 1. Epub 2021 Apr 1.

Servicio de Radiología e Imágenes, Clínica Santa María, Santiago, Chile.

Background: The severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), which resulted in the worldwide coronavirus disease 2019 (COVID-19) pandemic of 2020, has particularly affected Latin America.

Objective: The purpose of the study was to analyze the imaging findings of pulmonary COVID-19 in a large pediatric series.

Materials And Methods: Children with SARS-CoV-2 infection confirmed by either quantitative reverse transcription-polymerase chain reaction from nasopharyngeal swabs or presence of circulating immunoglobulin M (IgM) antibodies and who underwent chest radiograph or CT or both were included in this retrospective multicenter study. Read More

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Functions of BLM Helicase in Cells: Is It Acting Like a Double-Edged Sword?

Front Genet 2021 12;12:634789. Epub 2021 Mar 12.

Signal Transduction Laboratory-2, National Institute of Immunology, New Delhi, India.

DNA damage repair response is an important biological process involved in maintaining the fidelity of the genome in eukaryotes and prokaryotes. Several proteins that play a key role in this process have been identified. Alterations in these key proteins have been linked to different diseases including cancer. Read More

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Inherited skin disorders presenting with poikiloderma.

Int J Dermatol 2021 Mar 19. Epub 2021 Mar 19.

Department of Dermatology and Venereology, Faculty of Medicine, Public Health, and Nursing, Universitas Gadjah Mada, Yogyakarta, Indonesia.

Poikiloderma is a skin condition that combines atrophy, telangiectasia, and macular pigment changes (hypo- as well as hyperpigmentation). It is often mistaken for mottled pigmentation by general practitioners or nondermatology specialists. Poikiloderma can be a key presenting symptom of Rothmund-Thomson syndrome (RTS), dyskeratosis congenita (DC), hereditary sclerosing poikiloderma (HSP), hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP), xeroderma pigmentosum (XP), Bloom syndrome (BS), Kindler syndrome (KS), and Clericuzio-type poikiloderma with neutropenia (PN). Read More

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Bloom syndrome and the underlying causes of genetic instability.

Authors:
Mouna Ababou

Mol Genet Metab 2021 05 10;133(1):35-48. Epub 2021 Mar 10.

Laboratory of Human Pathologies Biology, Department of Biology, Faculty of Sciences, University Mohammed V, Rabat, Morocco; Genomic Center of Human Pathologies, Faculty of medicine and Pharmacy, University Mohammed V, Rabat, Morocco. Electronic address:

Autosomal hereditary recessive diseases characterized by genetic instability are often associated with cancer predisposition. Bloom syndrome (BS), a rare genetic disorder, with <300 cases reported worldwide, combines both. Indeed, patients with Bloom's syndrome are 150 to 300 times more likely to develop cancers than normal individuals. Read More

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Human RecQ Helicases in DNA Double-Strand Break Repair.

Front Cell Dev Biol 2021 25;9:640755. Epub 2021 Feb 25.

Division of Molecular Radiation Biology, Department of Radiation Oncology, UT Southwestern Medical Center, Dallas, TX, United States.

RecQ DNA helicases are a conserved protein family found in bacteria, fungus, plants, and animals. These helicases play important roles in multiple cellular functions, including DNA replication, transcription, DNA repair, and telomere maintenance. Humans have five RecQ helicases: RECQL1, Bloom syndrome protein (BLM), Werner syndrome helicase (WRN), RECQL4, and RECQL5. Read More

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February 2021

Super-resolution mapping of cellular double-strand break resection complexes during homologous recombination.

Proc Natl Acad Sci U S A 2021 Mar;118(11)

Department of Biochemistry and Molecular Pharmacology, Perlmutter Cancer Center, New York University School of Medicine, New York, NY 10016

Homologous recombination (HR) is a major pathway for repair of DNA double-strand breaks (DSBs). The initial step that drives the HR process is resection of DNA at the DSB, during which a multitude of nucleases, mediators, and signaling proteins accumulates at the damage foci in a manner that remains elusive. Using single-molecule localization super-resolution (SR) imaging assays, we specifically visualize the spatiotemporal behavior of key mediator and nuclease proteins as they resect DNA at single-ended double-strand breaks (seDSBs) formed at collapsed replication forks. Read More

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Uncovering an allosteric mode of action for a selective inhibitor of human Bloom syndrome protein.

Elife 2021 Mar 1;10. Epub 2021 Mar 1.

Cancer Research UK DNA Repair Enzymes Group, Genome Damage and Stability Centre, School of Life Sciences, University of Sussex, Falmer, United Kingdom.

BLM (Bloom syndrome protein) is a RECQ-family helicase involved in the dissolution of complex DNA structures and repair intermediates. Synthetic lethality analysis implicates BLM as a promising target in a range of cancers with defects in the DNA damage response; however, selective small molecule inhibitors of defined mechanism are currently lacking. Here, we identify and characterise a specific inhibitor of BLM's ATPase-coupled DNA helicase activity, by allosteric trapping of a DNA-bound translocation intermediate. Read More

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Predominant cellular mitochondrial dysfunction in the TOP3A gene-caused Bloom syndrome-like disorder.

Biochim Biophys Acta Mol Basis Dis 2021 Jun 23;1867(6):166106. Epub 2021 Feb 23.

Department of Pediatric Endocrinology and Genetic, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai, China. Electronic address:

TOP3A promotes processing of double Holliday junction dissolution and also plays an important role in decatenation and segregation of human mtDNA. Recently, TOP3A mutations have been reported to cause Bloom syndrome-like disorder. However, whether the two function play equal roles in the disease pathogenesis is unclear. Read More

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Concomitant Lumbar Spinal Stenosis Negatively Affects Outcomes After Hip Arthroscopy for Femoroacetabular Impingement.

Arthroscopy 2021 Feb 10. Epub 2021 Feb 10.

NYU Langone Orthopedic Hospital, New York, New York, U.S.A.

Purpose: The purpose of this study was to assess the prognostic effect of lumbar spinal stenosis on clinical outcomes after hip arthroscopy for femoroacetabular impingement syndrome (FAI).

Methods: Patients undergoing hip arthroscopy between September 2009 and December 2015 for FAI with concomitant lumbar spinal stenosis (central/neuroforaminal) and a 2-year follow-up were identified (hip-spine). A 1:1 case-matching query using preoperative modified Harris Hip Score (mHHS) within 3 points, body mass index (BMI) within 3 points, age within 5 years, and sex identified a control cohort without spinal pathology. Read More

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February 2021

How are patients with rare diseases and their carers in the UK impacted by the way care is coordinated? An exploratory qualitative interview study.

Orphanet J Rare Dis 2021 02 10;16(1):76. Epub 2021 Feb 10.

Genetic Alliance UK, Third Floor, 86-90 Paul Street, London, EC2A 4NE, UK.

Background: Care coordination is considered important for patients with rare conditions, yet research addressing the impact of care coordination is limited. This study aimed to explore how care coordination (or lack of) impacts on patients and carers. Semi-structured interviews were conducted with 15 patients and carers/parents in the UK, representing a range of rare conditions (including undiagnosed conditions). Read More

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February 2021

Analysis of m6A RNA Methylation-Related Genes in Liver Hepatocellular Carcinoma and Their Correlation with Survival.

Int J Mol Sci 2021 Feb 2;22(3). Epub 2021 Feb 2.

Key Laboratory of Pathogenic Microbiology and Immunology, Institute of Microbiology, Chinese Academy of Sciences, Beijing 100101, China.

N6-methyladenosine (m6A) modification on RNA plays an important role in tumorigenesis and metastasis, which could change gene expression and even function at multiple levels such as RNA splicing, stability, translocation, and translation. In this study, we aim to conduct a comprehensive analysis on m6A RNA methylation-related genes, including m6A RNA methylation regulators and m6A RNA methylation-modified genes, in liver hepatocellular carcinoma, and their relationship with survival and clinical features. Data, which consist of the expression of widely reported m6A RNA methylation-related genes in liver hepatocellular carcinoma from The Cancer Genome Atlas (TCGA), were analyzed by one-way ANOVA, Univariate Cox regression, a protein-protein interaction network, gene enrichment analysis, feature screening, a risk prognostic model, correlation analysis, and consensus clustering analysis. Read More

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February 2021

Dynamics of Neutralizing Antibody Titers in the Months After Severe Acute Respiratory Syndrome Coronavirus 2 Infection.

J Infect Dis 2021 02;223(2):197-205

Division of Basic Sciences and Computational Biology Program, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA.

Most individuals infected with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) develop neutralizing antibodies that target the viral spike protein. In this study, we quantified how levels of these antibodies change in the months after SARS-CoV-2 infection by examining longitudinal samples collected approximately 30-152 days after symptom onset from a prospective cohort of 32 recovered individuals with asymptomatic, mild, or moderate-severe disease. Neutralizing antibody titers declined an average of about 4-fold from 1 to 4 months after symptom onset. Read More

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February 2021

Development of fluorescence in situ hybridization (FISH) probes to detect and enumerate Gambierdiscus species.

Harmful Algae 2021 01 6;101:101914. Epub 2021 Jan 6.

Biology Department, Woods Hole Oceanographic Institution, Woods Hole, MA 02543, USA.

Ciguatera poisoning (CP) is a syndrome caused by the bioaccumulation of lipophilic ciguatoxins in coral reef fish and invertebrates, and their subsequent consumption by humans. These phycotoxins are produced by Gambierdiscus spp., tropical epiphytic dinoflagellates that live on a variety of macrophytes, as well as on dead corals and sand. Read More

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January 2021

The Bloom syndrome complex senses RPA-coated single-stranded DNA to restart stalled replication forks.

Nat Commun 2021 01 26;12(1):585. Epub 2021 Jan 26.

MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, OX3 9DS, UK.

The Bloom syndrome helicase BLM interacts with topoisomerase IIIα (TOP3A), RMI1 and RMI2 to form the BTR complex, which dissolves double Holliday junctions to produce non-crossover homologous recombination (HR) products. BLM also promotes DNA-end resection, restart of stalled replication forks, and processing of ultra-fine DNA bridges in mitosis. How these activities of the BTR complex are regulated in cells is still unclear. Read More

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January 2021