1,831 results match your criteria Bloom Syndrome Congenital Telangiectatic Erythema


Histopathologic features of breast cancer in Li-Fraumeni syndrome.

Mod Pathol 2020 Jul 7. Epub 2020 Jul 7.

Department of Pathology, Brigham and Women's Hospital, Boston, MA, USA.

Breast cancer is the most common malignancy in female patients with Li-Fraumeni syndrome (LFS), a rare autosomal dominant hereditary syndrome characterized by germline TP53 mutations. Recent studies have shown that the majority of these tumors are estrogen receptor (ER) positive with frequent HER2 co-expression. However, the morphologic features of these tumors have not been as well studied as other germline-associated breast cancers. Read More

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http://dx.doi.org/10.1038/s41379-020-0610-4DOI Listing

Cholera and Pancreatic Cholera: Is VIP the Common Pathophysiologic Factor?

Trop Med Infect Dis 2020 Jul 2;5(3). Epub 2020 Jul 2.

Department of Immunology and Microbial Diseases, Albany Medical College, Albany, NY 12208, USA.

Background: Cholera remains a major global health problem, causing high output diarrhea leading to severe dehydration and shock in developing countries. We aimed to determine whether vasoactive intestinal polypeptide (VIP), the mediator of pancreatic cholera syndrome, has a role in the pathophysiology of human cholera.

Methods: We conducted a prospective observational study of cholera cases hospitalized with severe dehydration. Read More

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http://dx.doi.org/10.3390/tropicalmed5030111DOI Listing

[Challenges of screening germline predispositions in children].

Authors:
Atsushi Manabe

Rinsho Ketsueki 2020 ;61(6):682-686

Department of Pediatrics, Hokkaido University Graduate School of Medicine.

Genetic predisposition is a major cause of childhood cancer. Multiple cancer-predisposing syndromes have been identified, including Li-Fraumeni syndrome (LFS), neurofibromatosis type 1, APC-related adenomatous polyposis, Beckwith-Wiedemann syndrome, multiple endocrine neoplasia 1, ataxia telangiectasia, RUNX1 deficiency, Fanconi anemia, Bloom syndrome, and PTEN hamartoma tumor syndrome. LFS is a prototypical genetically predisposing condition. Read More

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http://dx.doi.org/10.11406/rinketsu.61.682DOI Listing
January 2020

[Analysis of clinical features and genetic variants in an infant with Bloom syndrome].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2020 Jul;37(7):764-766

Department of Child Healthcare, the Affiliated Hospital of Qingdao University, Qingdao, Shandong 266003, China.

Objective: To analyze the clinical features and genetic variants in a 13-month-old child with Bloom syndrome.

Methods: Clinical data of the child was collected. Genetic variants were detected by high-throughput sequencing and Sanger sequencing. Read More

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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2020.07.015DOI Listing

Recognition and Unfolding of c-MYC and Telomeric G-Quadruplex DNAs by the RecQ C-Terminal Domain of Human Bloom Syndrome Helicase.

ACS Omega 2020 Jun 11;5(24):14513-14522. Epub 2020 Jun 11.

Department of Chemistry, Gwangju Institute of Science and Technology, Gwangju 61005, Korea.

G-quadruplex (G4) is a noncanonical DNA secondary structure formed by Hoogsteen base pairing. It is recognized by various DNA helicases involved in DNA metabolism processes such as replication and transcription. Human Bloom syndrome protein (BLM), one of five human RecQ helicases, is a G4 helicase. Read More

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http://dx.doi.org/10.1021/acsomega.0c01176DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7315595PMC

Hereditary Predisposition to Hematopoietic Neoplasms: When Bloodline Matters for Blood Cancers.

Mayo Clin Proc 2020 Jul 19;95(7):1482-1498. Epub 2020 Jun 19.

Division of Hematology, Department of Medicine, Mayo Clinic, Rochester, MN. Electronic address:

With the advent of precision genomics, hereditary predisposition to hematopoietic neoplasms- collectively known as hereditary predisposition syndromes (HPS)-are being increasingly recognized in clinical practice. Familial clustering was first observed in patients with leukemia, which led to the identification of several germline variants, such as RUNX1, CEBPA, GATA2, ANKRD26, DDX41, and ETV6, among others, now established as HPS, with tendency to develop myeloid neoplasms. However, evidence for hereditary predisposition is also apparent in lymphoid and plasma--cell neoplasms, with recent discoveries of germline variants in genes such as IKZF1, SH2B3, PAX5 (familial acute lymphoblastic leukemia), and KDM1A/LSD1 (familial multiple myeloma). Read More

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http://dx.doi.org/10.1016/j.mayocp.2019.12.013DOI Listing

Mitigating the impact of COVID-19 on oncology: Clinical and operational lessons from a prospective radiation oncology cohort tested for COVID-19.

Radiother Oncol 2020 May 29;148:252-257. Epub 2020 May 29.

Department of Radiation Oncology, The University of Texas MD Anderson Cancer Center, Houston, USA.

Background And Purpose: The COVID-19 pandemic warrants operational initiatives to minimize transmission, particularly among cancer patients who are thought to be at high-risk. Within our department, a multidisciplinary tracer team prospectively monitored all patients under investigation, tracking their test status, treatment delays, clinical outcomes, employee exposures, and quarantines.

Materials And Methods: Prospective cohort tested for SARS-COV-2 infection over 35 consecutive days of the early pandemic (03/19/2020-04/22/2020). Read More

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http://dx.doi.org/10.1016/j.radonc.2020.05.037DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7256609PMC

Education in the time of COVID-19.

Pediatr Radiol 2020 07 28;50(8):1055-1058. Epub 2020 May 28.

E. B. Singleton Department of Pediatric Radiology, Texas Children's Hospital, Baylor College of Medicine, Houston, TX, USA.

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http://dx.doi.org/10.1007/s00247-020-04728-8DOI Listing
July 2020
1.651 Impact Factor

Veno-venous Extracorporeal Membrane Oxygenation for Respiratory Failure in COVID-19 Patients: Early Experience From a Major Academic Medical Center in North America.

Ann Surg 2020 May 25. Epub 2020 May 25.

Division of Cardiac Surgery, Massachusetts General Hospital, Boston, Massachusetts.

And Background Data: VV ECMO can be utilized as an advanced therapy in select patients with COVID-19 respiratory failure refractory to traditional critical care management and optimal mechanical ventilation. Anticipating a need for such therapies during the pandemic, our center created a targeted protocol for ECMO therapy in COVID-19 patients that allows us to provide this life-saving therapy to our sickest patients without overburdening already stretched resources or excessively exposing healthcare staff to infection risk.

Methods: As a major regional referral program, we used the framework of our well-established ECMO service-line to outline specific team structures, modified patient eligibility criteria, cannulation strategies, and management protocols for the COVID-19 ECMO program. Read More

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http://dx.doi.org/10.1097/SLA.0000000000004084DOI Listing

Does cannabidiol have antiseizure activity independent of its interactions with clobazam? An appraisal of the evidence from randomized controlled trials.

Epilepsia 2020 Jun 26;61(6):1082-1089. Epub 2020 May 26.

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

Four pivotal randomized placebo-controlled trials have demonstrated that adjunctive therapy with cannabidiol (CBD) improves seizure control in patients with Dravet syndrome (DS) and Lennox-Gastaut syndrome (LGS). Between 47% and 68% of patients allocated to CBD treatment in these trials were receiving clobazam (CLB), which shows complex interactions with CBD resulting, in particular, in a 3.4- to 5-fold increase in plasma concentration of the active metabolite norclobazam. Read More

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http://dx.doi.org/10.1111/epi.16542DOI Listing

Malar rash in a young child with neurodevelopmental delay: a quiz.

Arch Dis Child Educ Pract Ed 2020 May 23. Epub 2020 May 23.

Dermatology, American University of Beirut Medical Center, Beirut, Lebanon

-A 14-month-old boy born to consanguineous parents presented to our Dermatology Department with a 6-month history of a malar eczematous rash that worsens with sun exposure. He had butterfly-shaped, hyperpigmented exfoliating plaques, preceded by blister formation (figure 1). He was also noticed to have enophthalmos, a pinched nose, microcephaly and a cachectic physique. Read More

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http://dx.doi.org/10.1136/archdischild-2019-318334DOI Listing

Males Receive Low-Tidal Volume Component of Lung Protective Ventilation More Frequently than Females in the Emergency Department.

West J Emerg Med 2020 Apr 16;21(3):684-687. Epub 2020 Apr 16.

Lewis Katz School of Medicine, Department of Emergency Medicine, Philadelphia, Pennsylvania.

Introduction: Mechanical ventilation is a commonly performed procedure in the emergency department (ED). Approximately 240,000 patients per year receive mechanical ventilation in the ED representing 0.23% of ED visits. Read More

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http://dx.doi.org/10.5811/westjem.2020.2.45191DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7234723PMC

Recent advances in Wilms tumor predisposition.

Hum Mol Genet 2020 May 15. Epub 2020 May 15.

Department of Oncology, St. Jude Children's Research Hospital, Memphis, TN 38105.

Wilms tumor (WT), the most common childhood kidney cancer, develops in association with an underlying germline predisposition in up to 15% of cases. Germline alterations affecting the WT1 gene and epigenetic alterations affecting the 11p15 locus are associated with a selective increase in WT risk. Nevertheless, WT also occurs in the context of more pleiotropic cancer predispositions, such as DICER1, Li-Fraumeni, and Bloom syndrome, as well as Fanconi anemia. Read More

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http://dx.doi.org/10.1093/hmg/ddaa091DOI Listing

Human pluripotent stem cell-based models suggest preadipocyte senescence as a possible cause of metabolic complications of Werner and Bloom Syndromes.

Sci Rep 2020 May 4;10(1):7490. Epub 2020 May 4.

The University of Cambridge Metabolic Research Laboratories, Wellcome Trust-MRC Institute of Metabolic Science, Cambridge, UK.

Werner Syndrome (WS) and Bloom Syndrome (BS) are disorders of DNA damage repair caused by biallelic disruption of the WRN or BLM DNA helicases respectively. Both are commonly associated with insulin resistant diabetes, usually accompanied by dyslipidemia and fatty liver, as seen in lipodystrophies. In keeping with this, progressive reduction of subcutaneous adipose tissue is commonly observed. Read More

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http://dx.doi.org/10.1038/s41598-020-64136-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7198505PMC

British Society of Gastroenterology guidance for management of inflammatory bowel disease during the COVID-19 pandemic.

Gut 2020 06 17;69(6):984-990. Epub 2020 Apr 17.

University of Edinburgh, Edinburgh, UK

The COVID-19 pandemic is putting unprecedented pressures on healthcare systems globally. Early insights have been made possible by rapid sharing of data from China and Italy. In the UK, we have rapidly mobilised inflammatory bowel disease (IBD) centres in order that preparations can be made to protect our patients and the clinical services they rely on. Read More

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http://dx.doi.org/10.1136/gutjnl-2020-321244DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7211081PMC
June 2020
14.660 Impact Factor

Risk Stratification of Acute Pulmonary Embolism and Determining the Effect on Chronic Cardiopulmonary Complications: The REACH Study.

TH Open 2020 Jan 30;4(1):e45-e50. Epub 2020 Mar 30.

Department of Haematology, Alfred Hospital, Melbourne, Victoria, Australia.

 Patients with acute pulmonary embolism (PE) are at risk of developing chronic complications including the post-PE syndrome with reduced cardiopulmonary function and chronic thromboembolism pulmonary hypertension (CTEPH). Risk stratification at PE diagnosis is an important tool in predicting early mortality; however, its use in predicting chronic complications has not been evaluated.  This study investigates the effect of initial risk stratification of intermediate risk and standard risk PE on the rate of development of chronic complications including right ventricular (RV) dysfunction, residual perfusion defects, and CTEPH. Read More

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http://dx.doi.org/10.1055/s-0040-1708558DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7105389PMC
January 2020

Microbiota in non-IgE-mediated food allergy.

Curr Opin Allergy Clin Immunol 2020 Jun;20(3):323-328

Division of Allergy, Bambino Gesù Children's Hospital IRCCS.

Purpose Of Review: To perform a nonsystematic review of the literature on the microbiota in the different types of non-IgE-mediated food allergy.

Recent Findings: The commonest non-IgE-mediated disorders managed by allergists include: eosinophilic esophagitis, food protein-induced enteropathy, food protein-induced enterocolitis syndrome, and food protein-induced allergic proctocolitis. The review of the literature describes how at phylum level we observe an increase of Proteobacteria in eosinophilic esophagitis esophageal microbiota and in food protein-induced enterocolitis syndrome, and food protein-induced allergic proctocolitis gut microbiota, while we observe an increase of Bacteroidetes in healthy controls. Read More

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http://dx.doi.org/10.1097/ACI.0000000000000644DOI Listing

COVID-19, a UK perspective.

Eur J Emerg Med 2020 06;27(3):156-157

Royal London Hospital, Barts Health NHS Trust, London, UK.

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http://dx.doi.org/10.1097/MEJ.0000000000000700DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7202099PMC

Identification of cancer stem cell-related biomarkers in lung adenocarcinoma by stemness index and weighted correlation network analysis.

J Cancer Res Clin Oncol 2020 Jun 28;146(6):1463-1472. Epub 2020 Mar 28.

Department of Thoracic Surgery, Zhongshan Hospital, Fudan University, Xuhui District, 180 Fenglin Road, Shanghai, 200032, China.

Background: Accounting for tumor heterogeneity, cancer stem cells (CSC) are involved in tumor metastasis, relapse, and drug resistance. Genes regulating CSC characteristics in lung adenocarcinoma (LUAD) were explored and validated in this study.

Methods: The mRNA stemness index (mRNAsi) of more than 500 LUAD cases from The Cancer Genome Atlas database were calculated using a one-class logistic regression machine learning algorithm based on the mRNA expression of pluripotent stem cells and their differentiated progeny. Read More

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http://dx.doi.org/10.1007/s00432-020-03194-xDOI Listing

Chromothripsis and DNA Repair Disorders.

J Clin Med 2020 Feb 25;9(3). Epub 2020 Feb 25.

Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, 2600 Glostrup, Denmark.

Chromothripsis is a mutational mechanism leading to complex and relatively clustered chromosomal rearrangements, resulting in diverse phenotypic outcomes depending on the involved genomic landscapes. It may occur both in the germ and the somatic cells, resulting in congenital and developmental disorders and cancer, respectively. Asymptomatic individuals may be carriers of chromotriptic rearrangements and experience recurrent reproductive failures when two or more chromosomes are involved. Read More

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http://dx.doi.org/10.3390/jcm9030613DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7141117PMC
February 2020

Gene expression profile suggesting immunological dysregulation in two Brazilian Bloom's syndrome cases.

Mol Genet Genomic Med 2020 Apr 19;8(4):e1133. Epub 2020 Feb 19.

Laboratorio de Citogenomica, Departamento de Patologia, Faculdade de Medicina FMUSP, Universidade de Sao Paulo, Sao Paulo, SP, Brazil.

Background: Bloom syndrome (BS) is a rare autosomal recessive chromosome instability disorder. The main clinical manifestations are growth deficiency, telangiectasic facial erythema, immunodeficiency, and increased risk to develop neoplasias at early age. Cytogenetic test for sister chromatid exchanges (SCEs) is used as a diagnostic marker for BS. Read More

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http://dx.doi.org/10.1002/mgg3.1133DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7196489PMC

Intraspecific variability in membrane proteome, cell growth, and morphometry of the invasive marine neurotoxic dinoflagellate Alexandrium pacificum grown in metal-contaminated conditions.

Sci Total Environ 2020 May 25;715:136834. Epub 2020 Jan 25.

Mediterranean Institute of Oceanography, Equipe Microbiologie Environnementale et Biotechnologie, UM 110 CNRS/IRD Aix-Marseille Université, Université de Toulon, CS 60584, 83 041 Toulon Cedex 9, France. Electronic address:

Over the past decades, the occurrence, distribution and intensity of harmful algal blooms involving the dinoflagellate Alexandrium pacificum have increased in marine coastal areas disturbed by anthropogenic inputs. This invasive species produces saxitoxin, which causes the paralytic shellfish poisoning syndrome in humans upon consumption of contaminated seafood. Blooms of A. Read More

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http://dx.doi.org/10.1016/j.scitotenv.2020.136834DOI Listing

Survey of Ehlers-Danlos Patients' ophthalmic surgery experiences.

Mol Genet Genomic Med 2020 Apr 27;8(4):e1155. Epub 2020 Jan 27.

Wilmer Eye Institute of Johns Hopkins Hospital, Baltimore, MD, USA.

Background: Ehlers-Danlos Syndrome (EDS) is a rare disease affecting approximately 1 in 5,000 people. Although ophthalmic conditions associated with EDS have been described, little data exist concerning ophthalmic surgical outcomes experienced by EDS patients.

Methods: Patients with EDS were surveyed via the EDS Society and asked about their ophthalmic surgical experiences including procedure, complications, and the timing with respect to receiving the EDS diagnosis. Read More

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http://dx.doi.org/10.1002/mgg3.1155DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7196452PMC

Resolution of ROS-induced G-quadruplexes and R-loops at transcriptionally active sites is dependent on BLM helicase.

FEBS Lett 2020 May 9;594(9):1359-1367. Epub 2020 Feb 9.

Massachusetts General Hospital Cancer Center, Harvard Medical School, Charlestown, MA, USA.

R-loops and G-quadruplexes (G4s) are noncanonical secondary DNA structures. Here, we show that reactive oxygen species (ROS) induce G4 formation as well as R-loops at transcriptionally active sites. Importantly, the G4 structure is subsequently triggered by R-loop formation after damage. Read More

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http://dx.doi.org/10.1002/1873-3468.13738DOI Listing
May 2020
3.169 Impact Factor

Consensus recommendations on the classification, definition and diagnostic criteria of hip-related pain in young and middle-aged active adults from the International Hip-related Pain Research Network, Zurich 2018.

Br J Sports Med 2020 Jun 20;54(11):631-641. Epub 2020 Jan 20.

Aspetar Qatar Orthopaedic and Sports Medicine Hospital, Doha, Qatar.

There is no agreement on how to classify, define or diagnose hip-related pain-a common cause of hip and groin pain in young and middle-aged active adults. This complicates the work of clinicians and researchers. The International Hip-related Pain Research Network consensus group met in November 2018 in Zurich aiming to make recommendations on how to classify, define and diagnose hip disease in young and middle-aged active adults with hip-related pain as the main symptom. Read More

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http://dx.doi.org/10.1136/bjsports-2019-101453DOI Listing

Fatal Hypogammaglobulinemia 3 Years after Rituximab in a Patient with Immune Thrombocytopenia: An Underlying Genetic Predisposition?

Case Reports Immunol 2019 28;2019:2543038. Epub 2019 Dec 28.

INSERM UMR 1163, Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, Paris Descartes-Sorbonne, Paris Cité University, Imagine Institute, Paris, France.

We report the case of a young woman who developed, 3 years after stopping Rituximab (RTX) prescribed for immune thrombocytopenia (ITP), a severe immunodeficiency leading to fatal pulmonary Epstein-Barr virus-positive diffuse large B-cell lymphoma. Genetic analysis led us to identify four missense mutations known to affect immune-deficiency-associated genes (FAS-ligand () gene (p.G167R); perforin-1 ( (p. Read More

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http://dx.doi.org/10.1155/2019/2543038DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6949674PMC
December 2019

Ulcer metastasis? Anatomical locations of recurrence for patients in diabetic foot remission.

J Foot Ankle Res 2020 13;13. Epub 2020 Jan 13.

4Keck School of Medicine, University of Southern California, California, Los Angeles USA.

Background: The "cancer analogy" is powerful for communicating risk to and organizing care for patients with diabetic foot syndrome. One potentially underappreciated similarity between cancer and foot ulcers is that both can recur at anatomical locations distinct from the primary occurrence, albeit with different physiological mechanisms. Few studies have characterized the location of diabetic foot ulcer recurrence, and these have been limited by considering only the first recurrent wound following a recent-healed wound. Read More

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http://dx.doi.org/10.1186/s13047-020-0369-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6958592PMC
January 2020

iPSC line derived from a Bloom syndrome patient retains an increased disease-specific sister-chromatid exchange activity.

Stem Cell Res 2020 03 31;43:101696. Epub 2019 Dec 31.

IRMB, Univ Montpellier, INSERM, CHU Montpellier, Montpellier France; Laboratory of Genome and Stem Cell Plasticity in Development and Aging, INSERM UMR1183, Montpellier, France; SAFE-iPSC Facility INGESTEM, CHU de Montpellier, Montpellier, France; Department of Medical Genetics, CHU Nantes, Nantes, France. Electronic address:

Bloom syndrome is characterized by severe pre- and postnatal growth deficiency, immune abnormalities, sensitivity to sunlight, insulin resistance, and a high risk for many cancers that occur at an early age. The diagnosis is established on characteristic clinical features and/or presence of biallelic pathogenic variants in the BLM gene. An increased frequency of sister-chromatid exchanges is also observed and can be useful to diagnose BS patients with weak or no clinical features. Read More

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http://dx.doi.org/10.1016/j.scr.2019.101696DOI Listing

The Emerging Role of Cytidine Deaminase in Human Diseases: A New Opportunity for Therapy?

Mol Ther 2020 02 6;28(2):357-366. Epub 2019 Dec 6.

Université Fédérale de Toulouse Midi-Pyrénées, Université Toulouse III Paul Sabatier, INSERM, Cancer Research Center of Toulouse (CRCT), Toulouse, France. Electronic address:

The recycling activity of cytidine deaminase (CDA) within the pyrimidine salvage pathway is essential to DNA and RNA synthesis. As such, CDA deficiency can lead to replicative stress, notably in Bloom syndrome. Alternatively, CDA also can deaminate cytidine and deoxycytidine analog-based therapies, such as gemcitabine. Read More

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http://dx.doi.org/10.1016/j.ymthe.2019.11.026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7001087PMC
February 2020

Association between residential greenness and metabolic syndrome in Chinese adults.

Environ Int 2020 Feb 11;135:105388. Epub 2019 Dec 11.

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

Background: Residing in greener areas has several health benefits, but no study to date has examined the effects of greenness on metabolic syndrome (MetS). We aimed to assess associations between residential greenness and MetS prevalence in China, and to explore whether air pollution and physical activity mediated any observed associations.

Methods: We analyzed data from 15,477 adults who participated in the 33 Communities Chinese Health Study during 2009. Read More

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http://dx.doi.org/10.1016/j.envint.2019.105388DOI Listing
February 2020

Germline BLM mutations and metastatic prostate cancer.

Prostate 2020 02 5;80(2):235-237. Epub 2019 Nov 5.

Tulane Cancer Center, New Orleans, Louisiana.

Background: Biallelic loss-of-function BLM mutations result in Bloom syndrome: a genetic disorder characterized by growth deficiencies, photosensitivity, and multiple cancer susceptibilities. There are conflicting reports about whether or not heterozygous BLM carriers are at a higher risk of various cancers. Without BLM protein functionality, there is evidence of increased sister chromatid exchange and chromosomal instability. Read More

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http://dx.doi.org/10.1002/pros.23924DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7009322PMC
February 2020

Generation of targeted homozygosity in the genome of human induced pluripotent stem cells.

PLoS One 2019 5;14(12):e0225740. Epub 2019 Dec 5.

Department of Genome Biology, Graduate School of Medicine, Osaka University, Suita, Osaka, Japan.

When loss of heterozygosity (LOH) is correlated with loss or gain of a disease phenotype, it is often necessary to identify which gene or genes are involved. Here, we developed a region-specific LOH-inducing system based on mitotic crossover in human induced pluripotent stem cells (hiPSCs). We first tested our system on chromosome 19. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0225740PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6894808PMC

Functional conservation of RecQ helicase BLM between humans and Drosophila melanogaster.

Sci Rep 2019 11 26;9(1):17527. Epub 2019 Nov 26.

Department of Human Science, Georgetown University Medical Center, Washington, DC, 20057, USA.

RecQ helicases are a family of proteins involved in maintaining genome integrity with functions in DNA repair, recombination, and replication. The human RecQ helicase family consists of five helicases: BLM, WRN, RECQL, RECQL4, and RECQL5. Inherited mutations in RecQ helicases result in Bloom Syndrome (BLM mutation), Werner Syndrome (WRN mutation), Rothmund-Thomson Syndrome (RECQL4 mutation), and other genetic diseases, including cancer. Read More

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http://dx.doi.org/10.1038/s41598-019-54101-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6879748PMC
November 2019

Helicases FANCJ, RTEL1 and BLM Act on Guanine Quadruplex DNA .

Genes (Basel) 2019 10 31;10(11). Epub 2019 Oct 31.

European Research Institute for the Biology of Ageing, University of Groningen, 9713 AV Groningen, The Netherlands.

Guanine quadruplex (G4) structures are among the most stable secondary DNA structures that can form in vitro, and evidence for their existence in vivo has been steadily accumulating. Originally described mainly for their deleterious effects on genome stability, more recent research has focused on (potential) functions of G4 structures in telomere maintenance, gene expression, and other cellular processes. The combined research on G4 structures has revealed that properly regulating G4 DNA structures in cells is important to prevent genome instability and disruption of normal cell function. Read More

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http://dx.doi.org/10.3390/genes10110870DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6896191PMC
October 2019

Screening antiproliferative drug for breast cancer from bisbenzylisoquinoline alkaloid tetrandrine and fangchinoline derivatives by targeting BLM helicase.

BMC Cancer 2019 Oct 28;19(1):1009. Epub 2019 Oct 28.

Department of Immunology, Basic Medical College, Guizhou Medical University, 9 Beijing Road, Guiyang, 550004, People's Republic of China.

Background: The high expression of BLM (Bloom syndrome) helicase in tumors involves its strong association with cell expansion. Bisbenzylisoquinoline alkaloids own an antitumor property and have developed as candidates for anticancer drugs. This paper aimed to screen potential antiproliferative small molecules from 12 small molecules (the derivatives of bisbenzylisoquinoline alkaloids tetrandrine and fangchinoline) by targeting BLM helicase. Read More

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http://dx.doi.org/10.1186/s12885-019-6146-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6819594PMC
October 2019

Inherited Variants in and the Risk and Clinical Characteristics of Breast Cancer.

Cancers (Basel) 2019 Oct 13;11(10). Epub 2019 Oct 13.

International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University in Szczecin, 71-252 Szczecin, Poland.

Bloom Syndrome is a rare recessive disease which includes a susceptibility to various cancers. It is caused by homozygous mutations of the gene. To investigate whether heterozygous carriers of a mutation are predisposed to breast cancer, we sequenced in 617 patients from Polish families with a strong family history of breast cancer. Read More

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http://dx.doi.org/10.3390/cancers11101548DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6826355PMC
October 2019

Ustekinumab as Induction and Maintenance Therapy for Ulcerative Colitis.

N Engl J Med 2019 09;381(13):1201-1214

From the Dr. Henry D. Janowitz Division of Gastroenterology, Icahn School of Medicine at Mount Sinai, New York (B.E.S.); the Division of Gastroenterology, University of California, San Diego, La Jolla (W.J.S.), and the F. Widjaja Foundation Inflammatory Bowel and Immunobiology Research Institute, Cedars-Sinai Medical Center, Los Angeles (S.T.) - both in California; the Departments of Medicine and Community Health Sciences, University of Calgary, Calgary, AB, Canada (R.P.); Janssen Research and Development, Spring House, PA (C.D.O., H.Z., J.J., O.J.A., K.L., P.S., C.M.); the Gastroenterology Department and INSERM 1256, Nutrition, Genetics, and Environmental Risk Exposure, Nancy University Hospital, Université de Lorraine, Nancy, France (L.P.-B.); the Division of Gastroenterology and Hepatology, University Hospitals Leuven and Translational Research Center for Gastrointestinal Disorders, University of Leuven, Leuven, Belgium (G.V.A.); the IBD Center, Department of Gastroenterology, Humanitas Research Hospital and Humanitas University, Milan (S.D.); the Division of Gastroenterology, Department of Medicine, University of Miami Miller School of Medicine, Miami (M.T.A.); and the Division of Gastroenterology, Third Department of Internal Medicine, Kyorin University School of Medicine, Tokyo (T.H.).

Background: The efficacy of ustekinumab, an antagonist of the p40 subunit of interleukin-12 and interleukin-23, as induction and maintenance therapy in patients with ulcerative colitis is unknown.

Methods: We evaluated ustekinumab as 8-week induction therapy and 44-week maintenance therapy in patients with moderate-to-severe ulcerative colitis. A total of 961 patients were randomly assigned to receive an intravenous induction dose of ustekinumab (either 130 mg [320 patients] or a weight-range-based dose that approximated 6 mg per kilogram of body weight [322]) or placebo (319). Read More

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http://dx.doi.org/10.1056/NEJMoa1900750DOI Listing
September 2019
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Quantifying the impact of small molecule ligands on G-quadruplex stability against Bloom helicase.

Nucleic Acids Res 2019 11;47(20):10744-10753

Department of Physics, Kent State University, Kent, OH 44242, USA.

G-quadruplex (GQ) stabilizing small molecule (SM) ligands have been used to stabilize human telomeric GQ (hGQ) to inhibit telomerase activity, or non-telomeric GQs to manipulate gene expression at transcription or translation level. GQs are known to inhibit DNA replication unless destabilized by helicases, such as Bloom helicase (BLM). Even though the impact of SM ligands on thermal stability of GQs is commonly used to characterize their efficacy, how these ligands influence helicase-mediated GQ unfolding is not well understood. Read More

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http://dx.doi.org/10.1093/nar/gkz803DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6847008PMC
November 2019

Single-molecule visualization of human BLM helicase as it acts upon double- and single-stranded DNA substrates.

Nucleic Acids Res 2019 12;47(21):11225-11237

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

Bloom helicase (BLM) and its orthologs are essential for the maintenance of genome integrity. BLM defects represent the underlying cause of Bloom Syndrome, a rare genetic disorder that is marked by strong cancer predisposition. BLM deficient cells accumulate extensive chromosomal aberrations stemming from dysfunctions in homologous recombination (HR). Read More

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http://dx.doi.org/10.1093/nar/gkz810DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6868385PMC
December 2019
3 Reads

Chromosome instability syndromes.

Nat Rev Dis Primers 2019 09 19;5(1):64. Epub 2019 Sep 19.

Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UK.

Fanconi anaemia (FA), ataxia telangiectasia (A-T), Nijmegen breakage syndrome (NBS) and Bloom syndrome (BS) are clinically distinct, chromosome instability (or breakage) disorders. Each disorder has its own pattern of chromosomal damage, with cells from these patients being hypersensitive to particular genotoxic drugs, indicating that the underlying defect in each case is likely to be different. In addition, each syndrome shows a predisposition to cancer. Read More

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http://dx.doi.org/10.1038/s41572-019-0113-0DOI Listing
September 2019
3 Reads

Improvement on metabolic syndrome in high fat diet-induced obese mice through modulation of gut microbiota by sangguayin decoction.

J Ethnopharmacol 2020 Jan 8;246:112225. Epub 2019 Sep 8.

College of Basic Medicine, Hubei University of Chinese Medicine, Huangjiahu 1, Wuhan, 430065, China; College of Life Sciences, Wuchang University of Technology, Jiangxia Avenue 16, Wuhan, 430223, China. Electronic address:

Ethnopharmacological Relevance: Our previous research found that Sangguayin (SGY) deccoction made by four dietary and medicinal plant components (Leaf of Morus alba L., Root of Pueraria lobata (Willd.) Ohwi. Read More

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http://dx.doi.org/10.1016/j.jep.2019.112225DOI Listing
January 2020
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Assessment of the Information Sources and Interest in Research Collaboration Among Individuals with Vascular Ehlers-Danlos Syndrome.

Ann Vasc Surg 2020 Jan 23;62:326-334. Epub 2019 Aug 23.

Division of Medical Genetics, Department of Medicine and Department of Pathology, University of Washington, Seattle, WA.

Background: Patient-centered research requires active engagement of patients. The vascular Ehlers-Danlos Syndrome (vEDS) research collaborative was established to ascertain patient-centered vEDS research priorities and to engage affected individuals as research partners. Evaluation of access to information and interest in research among individuals with vEDS was the first step undertaken as part of this work. Read More

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http://dx.doi.org/10.1016/j.avsg.2019.06.010DOI Listing
January 2020
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SLX4IP Antagonizes Promiscuous BLM Activity during ALT Maintenance.

Mol Cell 2019 10 22;76(1):27-43.e11. Epub 2019 Aug 22.

The Francis Crick Institute, 1 Midland Road, London NW1 1AT, UK. Electronic address:

Cancer cells acquire unlimited proliferative capacity by either re-expressing telomerase or inducing alternative lengthening of telomeres (ALT), which relies on telomere recombination. Here, we show that ALT recombination requires coordinate regulation of the SMX and BTR complexes to ensure the appropriate balance of resolution and dissolution activities at recombining telomeres. Critical to this control is SLX4IP, which accumulates at ALT telomeres and interacts with SLX4, XPF, and BLM. Read More

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http://dx.doi.org/10.1016/j.molcel.2019.07.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6863466PMC
October 2019

Spatiotemporal genetic structure of regional-scale Alexandrium catenella dinoflagellate blooms explained by extensive dispersal and environmental selection.

Harmful Algae 2019 06 21;86:46-54. Epub 2019 May 21.

Marine Science Institute, University of Texas at Austin, Port Aransas, TX, 78373, USA. Electronic address:

Paralytic Shellfish Poisoning (PSP) caused by the dinoflagellate Alexandrium catenella is a well-known global syndrome that negatively impacts human health and fishery economies. Understanding the population dynamics and ecology of this species is thus important for identifying determinants of blooms and associated PSP toxicity. Given reports of extensive genetic heterogeneity in the toxicity and physiology of Alexandrium species, knowledge of genetic population structure in harmful algal species such as A. Read More

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http://dx.doi.org/10.1016/j.hal.2019.03.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6668924PMC
June 2019
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Improving the Care of Individuals With Sickle Cell Disease in the Emergency Department Using a Quality Improvement Framework: The Emergency Department Sickle Cell Assessment of Needs and Strengths (ED-SCANS).

Adv Emerg Nurs J 2019 Jul/Sep;41(3):261-270

School of Nursing, Duke University, Durham, North Carolina (Drs Brennan-Cook and Tanabe and Ms Bonnabeau); and Emergency Department, Duke University Health Systems, Durham, North Carolina (Ms Harris-Bloom).

Sickle cell disease (SCD) is a severe chronic disease that leads to premature mortality caused by serious complications of the disease such as acute chest syndrome, stroke, and sepsis. Patients presenting to the emergency department (ED) with pain due to vaso-occlusive crisis (VOC) are at a higher risk for complications, making it imperative that emergency nurses, nurse practitioners, and physicians are knowledgeable about SCD and understand the other associated complications besides VOC. Because of the complexity of disease and misperceptions about SCD among ED nurses, physicians, and nurse practitioners, a quality improvement (QI) framework for treatment of adults with SCD in EDs was developed. Read More

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http://dx.doi.org/10.1097/TME.0000000000000256DOI Listing
January 2020
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Centromere-Proximal Meiotic Crossovers in Are Suppressed by Both Highly Repetitive Heterochromatin and Proximity to the Centromere.

Genetics 2019 09 25;213(1):113-125. Epub 2019 Jul 25.

Curriculum in Genetics and Molecular Biology, University of North Carolina, Chapel Hill, North Carolina 27599

Crossovers are essential in meiosis of most organisms to ensure the proper segregation of chromosomes, but improper placement of crossovers can result in nondisjunction and aneuploidy in progeny. In particular, crossovers near the centromere can cause nondisjunction. Centromere-proximal crossovers are suppressed by what is termed the centromere effect, but the mechanism is unknown. Read More

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http://dx.doi.org/10.1534/genetics.119.302509DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6727794PMC
September 2019
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Increased error-free DNA repair gene expression through reprogramming in human iPS cells.

Regen Ther 2019 Dec 28;11:101-105. Epub 2019 Jun 28.

Division of Gene Therapy Science, Department of Genome Biology, Graduate School of Medicine, Osaka University, Address: 2-2 Yamada-oka, Suita, Osaka 565-0871, Japan.

Introduction: Many studies have reported that human-induced pluripotent stem (hiPS)/embryonic stem (hES) cells have an exceptional ability to repair damaged DNA. Moreover, unlike differentiated cells, hES cells have features and mechanisms such as apoptosis-prone mitochondria, which prevent any changes in genetic information caused by DNA damage to be transmitted to their descendants. Type-A (dark) spermatogonia and cancer stem cells are thought to be dormant. Read More

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http://dx.doi.org/10.1016/j.reth.2019.06.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6606834PMC
December 2019
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Pharmacomechanical catheter thrombolysis for pregnancy-related proximal deep venous thrombosis: prevention of post-thrombotic syndrome.

J Matern Fetal Neonatal Med 2019 Jul 10:1-7. Epub 2019 Jul 10.

g Coagulation Unit, Institute of Hematology, Beilinson Hospital Rabin Medical Center , Petach Tikva , Israel.

The efficacy of pharmacomechanical catheter-directed thrombolysis (PCDT) in preventing post thrombotic syndrome (PTS) for pregnancy related deep vein thrombosis (DVT) is unknown. An observational cross section study of women with pregnancy related proximal (femoral/iliofemoral) DVT who underwent PCDT followed by anticoagulation (study group), and women who were treated with anticoagulation alone (control group). Women were evaluated for PTS using the Villalta scale (primary outcome) and VEINES-QOL/Sym questionnaires. Read More

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http://dx.doi.org/10.1080/14767058.2019.1638900DOI Listing
July 2019
6 Reads