1,994 results match your criteria Bloom Syndrome Congenital Telangiectatic Erythema


The influence of ambulance offload time on 30-day risks of death and re-presentation for patients with chest pain.

Med J Aust 2022 Jun 23. Epub 2022 Jun 23.

Centre for Research and Evaluation, Ambulance Victoria, Melbourne, VIC.

Objective: To assess whether ambulance offload time influences the risks of death or ambulance re-attendance within 30 days of initial emergency department (ED) presentations by adults with non-traumatic chest pain.

Design, Setting: Population-based observational cohort study of consecutive presentations by adults with non-traumatic chest pain transported by ambulance to Victorian EDs, 1 January 2015 - 30 June 2019.

Participants: Adults (18 years or older) with non-traumatic chest pain, excluding patients with ST elevation myocardial infarction (pre-hospital electrocardiography) and those who were transferred between hospitals or not transported to hospital (eg, cardiac arrest or death prior to transport). Read More

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Genomic characterization of lymphomas in patients with inborn errors of immunity.

Blood Adv 2022 06 10. Epub 2022 Jun 10.

Department of Biosciences and Nutrition, Karolinska Institutet, Sweden

Patients with inborn errors of immunity (IEI) have a higher risk of developing cancer, especially lymphoma. However, the molecular basis for IEI-related lymphoma is complex and remains elusive. Here, we perform an in-depth analysis of lymphoma genomes derived from 23 IEI patients. Read More

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FDA Emergency Use Authorization-Approved Novel Coronavirus Disease 2019, Pressure-Regulated, Mechanical Ventilator Splitter That Enables Differential Compliance Multiplexing.

ASAIO J 2022 Jun 3. Epub 2022 Jun 3.

From the Department of Cardiothoracic Surgery, Stanford University, Stanford, California.

Infection with the novel coronavirus, severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), may cause viral pneumonia and acute respiratory distress syndrome (ARDS). Treatment of ARDS often requires mechanical ventilation and may take weeks for resolution. In areas with a large outbreaks, there may be shortages of ventilators available. Read More

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The convergence of head-on DNA unwinding forks induces helicase oligomerization and activity transition.

Proc Natl Acad Sci U S A 2022 Jun 3;119(23):e2116462119. Epub 2022 Jun 3.

School of Life Science and Technology, ShanghaiTech University, Shanghai 201210, China.

SignificanceBloom syndrome helicase (BLM) is a multifunctional helicase that primarily catalyzes the separation of two single strands of DNA. Here, using a single-molecule optical tweezers approach combined with confocal microscopy, we monitored both the enzymatic activity and oligomeric status of BLM at the same time. Strikingly, a head-on collision of BLM-medicated DNA unwinding forks was found to effectively switch their oligomeric state and activity. Read More

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Prenatal Detection of Congenital Heart Diseases Using Echocardiography: 12-Year Results of an Improving Program With 9782 Cases.

Front Public Health 2022 13;10:886262. Epub 2022 May 13.

Department of Cardiac Surgery, Guangdong Cardiovascular Institute, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangzhou, China.

Background: A provincial program combining the effect of a government investment in prenatal screening and a specialized cardiac center was introduced in 2004, to improve prenatal diagnosis by echocardiography for congenital heart diseases (CHDs) in the Guangdong Registry of Congenital Heart Disease, China.

Objectives: To evaluate the effects of this program on the prenatal diagnosis rate (PDR) by echocardiography and termination of pregnancy (TOP).

Methods: A retrospective study from 2004-2015 included 9782 fetuses and infants diagnosed with CHDs. Read More

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Signaling Pathway Reporter Screen with SARS-CoV-2 Proteins Identifies nsp5 as a Repressor of p53 Activity.

Viruses 2022 05 13;14(5). Epub 2022 May 13.

Department of Oral Biology, University of Florida College of Dentistry, 1395 Center Drive, Gainesville, FL 32610, USA.

The dysregulation of host signaling pathways plays a critical role in severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection and viral pathogenesis. While a number of viral proteins that can block type I IFN signaling have been identified, a comprehensive analysis of SARS-CoV-2 proteins in the regulation of other signaling pathways that can be critical for viral infection and its pathophysiology is still lacking. Here, we screened the effect of 21 SARS-CoV-2 proteins on 10 different host signaling pathways, namely, Wnt, p53, TGFβ, c-Myc, Hypoxia, Hippo, AP-1, Notch, Oct4/Sox2, and NF-κB, using a luciferase reporter assay. Read More

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An antibody-escape estimator for mutations to the SARS-CoV-2 receptor-binding domain.

Virus Evol 2022 11;8(1):veac021. Epub 2022 May 11.

Basic Sciences and Computational Biology, Fred Hutchinson Cancer Center, 1100 Fairview Ave N, Seattle, WA, USA.

A key goal of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) surveillance is to rapidly identify viral variants with mutations that reduce neutralization by polyclonal antibodies elicited by vaccination or infection. Unfortunately, direct experimental characterization of new viral variants lags their sequence-based identification. Here we help address this challenge by aggregating deep mutational scanning data into an 'escape estimator' that estimates the antigenic effects of arbitrary combinations of mutations to the virus's spike receptor-binding domain. Read More

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Susceptibility of Patients with Airways Disease to SARS-CoV-2 Infection.

Am J Respir Crit Care Med 2022 May 12. Epub 2022 May 12.

Imperial College London National Heart and Lung Institute, 90897, London, United Kingdom of Great Britain and Northern Ireland.

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has led to a worldwide pandemic. People with airways disease are at higher risk of respiratory infection, and viruses can trigger respiratory exacerbations. Patients with airways disease may therefore be more susceptible to SARS-CoV-2 infection, development of covid-19, or be at higher risk of adverse outcomes. Read More

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Factors Associated With Hospitalization or Intensive Care Admission in Children With COVID-19 in Latin America.

Front Pediatr 2022 14;10:868297. Epub 2022 Apr 14.

Centro de Estudios en Infectología Pediátrica, Cali, Colombia.

Background: Limited data is available from low-middle and upper-middle income countries of the factors associated with hospitalization or admission to pediatric intensive care unit (PICU) for children with COVID-19.

Objective: To describe the factors associated with hospitalization or PICU admission of children with COVID-19 in Latin America.

Method: Multicenter, analytical, retrospective study of children reported from 10 different Latin American countries to the Latin-American Society of Pediatric Infectious Diseases (SLIPE-COVID) research network from June 1, 2020, and February 28, 2021. Read More

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Identifying novel SMYD3 interactors on the trail of cancer hallmarks.

Comput Struct Biotechnol J 2022 11;20:1860-1875. Epub 2022 Apr 11.

Medical Genetics, National Institute for Gastroenterology, IRCCS 'S. de Bellis' Research Hospital, Castellana Grotte (Ba), Italy.

SMYD3 overexpression in several human cancers highlights its crucial role in carcinogenesis. Nonetheless, SMYD3 specific activity in cancer development and progression is currently under debate. Taking advantage of a library of rare tripeptides, which we first tested for their binding affinity to SMYD3 and then used as probes, we recently identified BRCA2, ATM, and CHK2 as direct SMYD3 interactors. Read More

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Bloom helicase mediates formation of large single-stranded DNA loops during DNA end processing.

Nat Commun 2022 04 26;13(1):2248. Epub 2022 Apr 26.

Department of Biochemistry and Molecular Biophysics, Columbia University, New York, NY, 10032, USA.

Bloom syndrome (BS) is associated with a profoundly increased cancer risk and is caused by mutations in the Bloom helicase (BLM). BLM is involved in the nucleolytic processing of the ends of DNA double-strand breaks (DSBs), to yield long 3' ssDNA tails that serve as the substrate for break repair by homologous recombination (HR). Here, we use single-molecule imaging to demonstrate that BLM mediates formation of large ssDNA loops during DNA end processing. Read More

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Impact of prehospital opioid dose on angiographic and clinical outcomes in acute coronary syndromes.

Emerg Med J 2022 Apr 26. Epub 2022 Apr 26.

Department of Cardiology, Alfred Hospital, Melbourne, Victoria, Australia

Background: An adverse interaction whereby opioids impair and delay the gastrointestinal absorption of oral P2Y inhibitors has been established, however the clinical significance of this in acute coronary syndrome (ACS) is uncertain. We sought to characterise the relationship between prehospital opioid dose and clinical outcomes in patients with ACS.

Methods: Patients given opioid treatment by emergency medical services (EMS) with ACS who underwent percutaneous coronary intervention (PCI) between 1 January 2014 and 31 December 2018 were included in this retrospective cohort analysis using data linkage between the Ambulance Victoria, Victorian Cardiac Outcomes Registry and Melbourne Interventional Group databases. Read More

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Radiotherapy and radiosensitivity syndromes in DNA repair gene mutations.

Klin Onkol 2022 ;35(2):119-127

Background: Ionizing radiation DNA damage is the main mechanism of radiotherapy (RT) action and the outcome of treatment and healthy tissue toxicity is influenced by a number of external and internal factors, including mutations in DNA damage recognition and repair. Disorders of DNA repair may result in increased sensitivity to cancer treatment.

Purpose: The mechanism of DNA repair and an overview of genetic syndromes with mutations in genes involved in DNA repair clarify the accelerated carcinogenesis and increased radiosensitivity in RT cancers. Read More

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Percutaneous Coronary Intervention Volume and Cardiac Surgery Availability Effect on Acute Coronary Syndrome-Related Cardiogenic Shock.

JACC Cardiovasc Interv 2022 04;15(8):876-886

Department of Cardiology, Western Health, Melbourne, Victoria, Australia; Department of Medicine, University of Melbourne, Melbourne, Victoria, Australia; Department of Cardiology, Alfred Health, Melbourne, Victoria, Australia. Electronic address:

Objectives: This study sought to assess the association between cardiac surgery availability and percutaneous coronary intervention (PCI) volume with clinical outcomes of cardiogenic shock (CS) complicating acute coronary syndrome (ACS).

Background: CS remains a grave complication of ACS with high mortality rates despite timely reperfusion and improved heart failure therapies.

Methods: The study analyzed data from consecutive patients with CS complicating ACS who underwent PCI and were prospectively enrolled in the VCOR (Victorian Cardiac Outcomes Registry) from 26 hospitals in Victoria. Read More

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Developing a taxonomy of care coordination for people living with rare conditions: a qualitative study.

Orphanet J Rare Dis 2022 04 20;17(1):171. Epub 2022 Apr 20.

Department of Applied Health Research, University College London, Gower Street, London, WC1E 6BT, UK.

Background: Improving care coordination is particularly important for individuals with rare conditions (who may experience multiple inputs into their care, across different providers and settings). To develop and evaluate strategies to potentially improve care coordination, it is necessary to develop a method for organising different ways of coordinating care for rare conditions. Developing a taxonomy would help to describe different ways of coordinating care and in turn facilitate development and evaluation of pre-existing and new models of care coordination for rare conditions. Read More

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Bloom syndrome helicase contributes to germ line development and longevity in zebrafish.

Cell Death Dis 2022 Apr 18;13(4):363. Epub 2022 Apr 18.

Department of Genetics, ELTE Eötvös Loránd University, Budapest, Hungary.

RecQ helicases-also known as the "guardians of the genome"-play crucial roles in genome integrity maintenance through their involvement in various DNA metabolic pathways. Aside from being conserved from bacteria to vertebrates, their importance is also reflected in the fact that in humans impaired function of multiple RecQ helicase orthologs are known to cause severe sets of problems, including Bloom, Werner, or Rothmund-Thomson syndromes. Our aim was to create and characterize a zebrafish (Danio rerio) disease model for Bloom syndrome, a recessive autosomal disorder. Read More

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Age of first cancer diagnosis and survival in Bloom syndrome.

Genet Med 2022 Apr 13. Epub 2022 Apr 13.

Department of Pediatrics, Weill Cornell Medical College, New York, NY. Electronic address:

Purpose: This study aimed to describe the spectrum of cancers observed in Bloom Syndrome and the observed survival and age of first cancer diagnosis in Bloom syndrome as these are not well-defined.

Methods: Data from the Bloom Syndrome Registry (BSR) was used for this study. Cancer history, ages of first cancer diagnosis, and ages of death were compiled from the BSR and analyzed. Read More

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High Expression of Bloom Syndrome Helicase is a Key Factor for Poor Prognosis and Advanced Malignancy in Patients with Pancreatic Cancer: A Retrospective Study.

Ann Surg Oncol 2022 Jun 13;29(6):3551-3564. Epub 2022 Apr 13.

Department of Gastroenterological Surgery, Graduate School of Life Sciences, Kumamoto University, Kumamoto, Japan.

Background: Bloom syndrome helicase (BLM) is overexpressed in multiple types of cancers and its overexpression may induce genomic instability. This study aimed to determine the function of BLM expression in pancreatic cancer.

Methods: BLM messenger RNA (mRNA) expression was analyzed using public datasets to determine its relationship with pancreatic cancer prognosis. Read More

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Multivalent designed proteins neutralize SARS-CoV-2 variants of concern and confer protection against infection in mice.

Sci Transl Med 2022 May 25;14(646):eabn1252. Epub 2022 May 25.

Department of Biochemistry, University of Washington, Seattle, WA 98195, USA.

New variants of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) continue to arise and prolong the coronavirus disease 2019 (COVID-19) pandemic. Here, we used a cell-free expression workflow to rapidly screen and optimize constructs containing multiple computationally designed miniprotein inhibitors of SARS-CoV-2. We found the broadest efficacy was achieved with a homotrimeric version of the 75-residue angiotensin-converting enzyme 2 (ACE2) mimic AHB2 (TRI2-2) designed to geometrically match the trimeric spike architecture. Read More

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Genomic epidemiology of the Los Angeles COVID-19 outbreak and the early history of the B.1.43 strain in the USA.

BMC Genomics 2022 Apr 4;23(1):260. Epub 2022 Apr 4.

Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, USA.

Background: The severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has caused global disruption of human health and activity. Being able to trace the early outbreak of SARS-CoV-2 within a locality can inform public health measures and provide insights to contain or prevent viral transmission. Investigation of the transmission history requires efficient sequencing methods and analytic strategies, which can be generally useful in the study of viral outbreaks. Read More

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Defining the risk of SARS-CoV-2 variants on immune protection.

Nature 2022 05 31;605(7911):640-652. Epub 2022 Mar 31.

Center for Childhood Infections and Vaccines of Children's Healthcare of Atlanta, Department of Pediatrics, Emory Vaccine Center, Emory University School of Medicine, Atlanta, GA, USA.

The global emergence of many severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) variants jeopardizes the protective antiviral immunity induced after infection or vaccination. To address the public health threat caused by the increasing SARS-CoV-2 genomic diversity, the National Institute of Allergy and Infectious Diseases within the National Institutes of Health established the SARS-CoV-2 Assessment of Viral Evolution (SAVE) programme. This effort was designed to provide a real-time risk assessment of SARS-CoV-2 variants that could potentially affect the transmission, virulence, and resistance to infection- and vaccine-induced immunity. Read More

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Association of Socioeconomic Status With Outcomes and Care Quality in Patients Presenting With Undifferentiated Chest Pain in the Setting of Universal Health Care Coverage.

J Am Heart Assoc 2022 04 24;11(7):e024923. Epub 2022 Mar 24.

Department of Cardiology The Alfred Hospital Melbourne Victoria Australia.

BACKGROUND This study aimed to assess whether there are disparities in incidence rates, care, and outcomes for patients with chest pain attended by emergency medical services according to socioeconomic status (SES) in a universal health coverage setting. METHODS AND RESULTS This was a population-based cohort study of individually linked ambulance, emergency, hospital admission, and mortality data in the state of Victoria, Australia, from January 2015 to June 2019 that included 183 232 consecutive emergency medical services attendances for adults with nontraumatic chest pain (mean age 62 [SD 18] years; 51% women) and excluded out-of-hospital cardiac arrest and ST-segment-elevation myocardial infarction. Age-standardized incidence of chest pain was higher for patients residing in lower SES areas (lowest SES quintile 1595 versus highest SES quintile 760 per 100 000 person-years; <0. Read More

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Cardiovascular Diseases Following Breast Cancer: Towards a Case-by-Case Assessment Through a Prediction Risk Score Model in 943 Patients.

Am J Clin Oncol 2022 04;45(4):155-160

Research and Teaching in Oncology.

Objectives: To identify patients at high risk of developing cardiovascular disease through the identification of risk factors among a large population of breast cancer women and to assess the performance of Abdel-Qadir risk prediction model score.

Materials And Methods: The medical records and baseline characteristics of all patients/tumors diagnosed with breast cancer from 2010 to 2011 in a French comprehensive cancer center were collected. Cardiovascular events were defined as arterial and cardiac events, atrial fibrillation and venous thromboembolism occurring during the 5-year follow-up. Read More

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Editorial Comment to "High Expression of Bloom Syndrome Helicase is a Key Factor for Poor Prognosis and Advanced Malignancy in Patients with Pancreatic Cancer: A Retrospective Study".

Ann Surg Oncol 2022 06 21;29(6):3373-3374. Epub 2022 Mar 21.

Department of Surgery, Division of Hepato-Biliary-Pancreatic Surgery, Kobe University Graduate School of Medicine, Kobe, Japan.

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Bloom syndrome for which second chromosomal analysis led to early diagnosis.

Pediatr Int 2022 Jan;64(1):e15020

Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.

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January 2022

Phenotypic spectrum of BLM- and RMI1-related Bloom syndrome.

Clin Genet 2022 May 11;101(5-6):559-564. Epub 2022 Mar 11.

Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.

Bloom syndrome (BS) is an autosomal recessive disorder with characteristic clinical features of primary microcephaly, growth deficiency, cancer predisposition, and immunodeficiency. Here, we report the clinical and molecular findings of eight patients from six families diagnosed with BS. We identified causative pathogenic variants in all families including three different variants in BLM and one variant in RMI1. Read More

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Development of models of care coordination for rare conditions: a qualitative study.

Orphanet J Rare Dis 2022 02 14;17(1):49. Epub 2022 Feb 14.

Department of Applied Health Research, University College London, Gower Street, London, WC1E 6BT, UK.

Introduction: Improving care coordination for people with rare conditions may help to reduce burden on patients and carers and improve the care that patients receive. We recently developed a taxonomy of different ways of coordinating care for rare conditions. It is not yet known which models of care coordination are appropriate in different situations. Read More

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February 2022

The CDK1-TOPBP1-PLK1 axis regulates the Bloom's syndrome helicase BLM to suppress crossover recombination in somatic cells.

Sci Adv 2022 02 4;8(5):eabk0221. Epub 2022 Feb 4.

Institute of Biochemistry, ETH Zürich, Otto-Stern-Weg 3, 8093 Zürich, Switzerland.

Bloom's syndrome is caused by inactivation of the BLM helicase, which functions with TOP3A and RMI1-2 (BTR complex) to dissolve recombination intermediates and avoid somatic crossing-over. We show here that crossover avoidance by BTR further requires the activity of cyclin-dependent kinase-1 (CDK1), Polo-like kinase-1 (PLK1), and the DDR mediator protein TOPBP1, which act in the same pathway. Mechanistically, CDK1 phosphorylates BLM and TOPBP1 and promotes the interaction of both proteins with PLK1. Read More

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February 2022