1,761 results match your criteria Bloom Syndrome Congenital Telangiectatic Erythema


Infectious Disease Threats in the Twenty-First Century: Strengthening the Global Response.

Front Immunol 2019 28;10:549. Epub 2019 Mar 28.

Department of Global Health and Population, Harvard T. H. Chan School of Public Health, Boston, MA, United States.

The world has developed an elaborate global health system as a bulwark against known and unknown infectious disease threats. The system consists of various formal and informal networks of organizations that serve different stakeholders; have varying goals, modalities, resources, and accountability; operate at different regional levels (i.e. Read More

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https://www.frontiersin.org/article/10.3389/fimmu.2019.00549
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http://dx.doi.org/10.3389/fimmu.2019.00549DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6447676PMC
March 2019
3 Reads

Bloom syndrome protein restrains innate immune sensing of micronuclei by cGAS.

J Exp Med 2019 Apr 1. Epub 2019 Apr 1.

Immunity and Cancer Department, Institut Curie, Paris-Sciences-et-Lettres Research University, Institut National de la Santé et de la Recherche Medicale U932, Paris, France

Cellular innate immune sensors of DNA are essential for host defense against invading pathogens. However, the presence of self-DNA inside cells poses a risk of triggering unchecked immune responses. The mechanisms limiting induction of inflammation by self-DNA are poorly understood. Read More

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http://dx.doi.org/10.1084/jem.20181329DOI Listing
April 2019
3 Reads

Discovery of Isaindigotone Derivatives as Novel Bloom's Syndrome Protein (BLM) Helicase Inhibitors That Disrupt the BLM/DNA Interactions and Regulate the Homologous Recombination Repair.

J Med Chem 2019 Mar 14;62(6):3147-3162. Epub 2019 Mar 14.

School of Pharmaceutical Sciences, Guangdong Provincial Key Laboratory of New Drug Design and Evaluation , Sun Yat-sen University , Guangzhou 510006 , China.

Homologous recombination repair (HRR), a crucial approach in DNA damage repair, is an attractive target in cancer therapy and drug design. The Bloom syndrome protein (BLM) is a 3'-5' DNA helicase that performs an important role in HRR regulation. However, limited studies about BLM inhibitors and their biological effects have been reported. Read More

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http://dx.doi.org/10.1021/acs.jmedchem.9b00083DOI Listing
March 2019
4 Reads

Rescue of collapsed replication forks is dependent on NSMCE2 to prevent mitotic DNA damage.

PLoS Genet 2019 02 8;15(2):e1007942. Epub 2019 Feb 8.

Department of Cellular and Molecular Medicine, University of Arizona, Tucson, Arizona, United States of America.

NSMCE2 is an E3 SUMO ligase and a subunit of the SMC5/6 complex that associates with the replication fork and protects against genomic instability. Here, we study the fate of collapsed replication forks generated by prolonged hydroxyurea treatment in human NSMCE2-deficient cells. Double strand breaks accumulate during rescue by converging forks in normal cells but not in NSMCE2-deficient cells. Read More

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http://dx.doi.org/10.1371/journal.pgen.1007942DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6383951PMC
February 2019

[Overlapping of functional gastrointestinal disorders in latinamerican schoolchildren and adolescents].

Rev Chil Pediatr 2018 Dec;89(6):726-731

Hospital Infantil de Nicaragua Manuel de Jesus Rivera, Managua, Nicaragua.

Introduction: There are few studies on overlapping Functional Gastrointestinal Disorders (FGIDs).

Objective: To describe the prevalence and possible risk factors in Latin American children (Latam) to present overlapping FGIDs.

Patients And Method: Prevalence study in Latam schoolchildren bet ween 8-18 years of age. Read More

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http://dx.doi.org/10.4067/S0370-41062018005000808DOI Listing
December 2018
3 Reads

A tumor suppressive DNA translocase named FANCM.

Crit Rev Biochem Mol Biol 2019 Feb 4;54(1):27-40. Epub 2019 Feb 4.

a Institute of Human Genetics (IGH), Centre National de la Recherche Scientifique (CNRS), Université de Montpellier (UM) , Montpellier , France.

FANCM is named after Fanconi anemia (FA) complement group M. The clinical symptoms of FA include congenital abnormalities, pancytopenia, and cancer proneness. However, recent studies reveal that biallelic inactivation of FANCM does not cause the constellation of FA symptoms, but predisposes patients to cancer and infertility. Read More

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http://dx.doi.org/10.1080/10409238.2019.1568963DOI Listing
February 2019
3 Reads

Single nucleotide polymorphism (SNP) based chromosomal microarray analysis provides clues and insights into disease mechanisms.

Ultrasound Obstet Gynecol 2019 Jan 28. Epub 2019 Jan 28.

Department of Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

Background: Chromosomal microarray analysis (CMA) in pregnancy is the modality of choice for prenatal diagnosis of fetal malformations, diagnosing microdeletion/duplication syndromes. We demonstrate further utilities of CMA, by diagnosing monogenic disease, imprinting disorders and uniparental disomy (UPD).

Methods: We performed CMA using Affymetrix CytoScan array for 6995 pregnancies for all indications since November 2013 in a tertiary referral hospital. Read More

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http://dx.doi.org/10.1002/uog.20230DOI Listing
January 2019
6 Reads

RMI1 contributes to DNA repair and to the tolerance to camptothecin.

FASEB J 2019 Apr 24;33(4):5561-5570. Epub 2019 Jan 24.

Tianjin Key Laboratory of Radiation Medicine and Molecular Nuclear Medicine, Institute of Radiation Medicine, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin, China.

Maintenance of genome integrity is critical for faithful propagation of genetic information and the prevention of the mutagenesis induced by various DNA damage events. RecQ-mediated genome instability protein 1 (RMI1), together with Bloom syndrome protein and topoisomerase IIIα, form an evolutionarily conserved complex that is critical for the maintenance of genomic stability. Herein, we report that RMI1 depletion increases cell sensitivity to camptothecin treatment, as shown by an elevation of genotoxic stress-induced DNA double-strand breaks, a stronger activation of the DNA damage response, and a greater G2/M cell cycle delay. Read More

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https://www.fasebj.org/doi/10.1096/fj.201802014R
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http://dx.doi.org/10.1096/fj.201802014RDOI Listing
April 2019
14 Reads

Skin Cancer Associated Genodermatoses: A Literature Review.

Acta Derm Venereol 2019 Apr;99(4):360-369

Department of Dermatology and Allergy Centre, Odense University Hospital, DK-5000 Odense, Denmark.

Skin cancer has become the most common type of cancer worldwide as a result of environmental exposure and medical treatments. A small group of patients are genetically predisposed to skin cancer and this article is intended as a diagnostic tool when encountering patients with multiple skin cancer lesions. The disorders are described with clinical characteristics, genetics and management. Read More

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http://dx.doi.org/10.2340/00015555-3123DOI Listing
April 2019
12 Reads

NMR Investigation of the Interaction between the RecQ C-Terminal Domain of Human Bloom Syndrome Protein and G-Quadruplex DNA from the Human c-Myc Promoter.

J Mol Biol 2019 Feb 10;431(4):794-806. Epub 2019 Jan 10.

Department of Chemistry, Gwangju Institute of Science and Technology, Gwangju 61005, Republic of Korea. Electronic address:

Bloom syndrome protein (BLM) is one of five human RecQ helicases that participate in DNA metabolism. RecQ C-terminal (RQC) domain is the main DNA binding module of BLM and specifically recognizes G-quadruplex (G4) DNA structures. Because G4 processing by BLM is essential for regulating replication and transcription, both G4 and BLM are considered as potential targets for anticancer therapy. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00222836183113
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http://dx.doi.org/10.1016/j.jmb.2019.01.010DOI Listing
February 2019
11 Reads

Pancreaticoduodenectomy complicated by Budd-Chiari syndrome: A case report and review of literature.

World J Gastrointest Surg 2018 Dec;10(9):107-110

Department of Visceral Surgery, Toulouse-Rangueil University Hospital, 31059 Toulouse Cedex 9, France.

Background: Pancreaticoduodenectomy (PD)-induced morbidity, consisting mainly of the pancreatic fistula and its hemorrhagic and infectious consequences, is well described in the literature, in terms of its definition, risk factors, preventive measures, and standardized management of complications. However, some life-threatening complications remain atypical and undescribed.

Case Summary: We report here the case of a 69-year-old patient with Budd-Chiari syndrome that occurred after arterial embolization of postpancreatectomy hemorrhage. Read More

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https://www.wjgnet.com/1948-9366/full/v10/i9/107.htm
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http://dx.doi.org/10.4240/wjgs.v10.i9.107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6314861PMC
December 2018
12 Reads

Use of Targeted Next-Generation Sequencing to Identify Activating Hot Spot Mutations in Cherry Angiomas.

JAMA Dermatol 2019 Feb;155(2):211-215

Department of Dermatology, Massachusetts General Hospital, Boston.

Importance: Shared gene variants in benign-malignant process pairs, such as BRAF mutations common to benign nevi and melanoma, are associated with differing phenotypic manifestations. Study of gene mechanisms underlying cherry angioma may uncover previously unknown disease relationships.

Objective: To identify somatic mutations present in cherry angioma specimens by using targeted next-generation sequencing. Read More

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http://archderm.jamanetwork.com/article.aspx?doi=10.1001/jam
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http://dx.doi.org/10.1001/jamadermatol.2018.4231DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6440195PMC
February 2019
30 Reads

Keeping ribosomal DNA intact: a repeating challenge.

Chromosome Res 2019 Mar 17;27(1-2):57-72. Epub 2018 Dec 17.

Section of Oncogenetics, Department of Clinical Genetics, Vrije Universiteit Amsterdam, Cancer Center Amsterdam, Amsterdam UMC, de Boelelaan 1117, 1081 HV, Amsterdam, the Netherlands.

More than half of the human genome consists of repetitive sequences, with the ribosomal DNA (rDNA) representing two of the largest repeats. Repetitive rDNA sequences may form a threat to genomic integrity and cellular homeostasis due to the challenging aspects of their transcription, replication, and repair. Predisposition to cancer, premature aging, and neurological impairment in ataxia-telangiectasia and Bloom syndrome, for instance, coincide with increased cellular rDNA repeat instability. Read More

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http://dx.doi.org/10.1007/s10577-018-9594-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6394564PMC

Prevalence of glucose intolerance and metabolic syndrome within one year following delivery of a pregnancy complicated by gestational diabetes.

Contracept Reprod Med 2018 23;3:27. Epub 2018 Nov 23.

Los Angeles BioMedical Research Institute at Harbor UCLA Medical Center, 1457 3rd Street, Manhattan Beach, Torrance, CA 90266 USA.

Background: Women with a history of gestational diabetes (GDM) are at risk for development of both overt Type 2 diabetes (T2DM) and cardiovascular disease (CVD) at higher rates and at earlier ages than control women. Current guidelines recommend longitudinal testing of glucose tolerance for women with prior GDM, but no formal assessments of cardiovascular disease are suggested. This study estimated the prevalence of metabolic syndrome in women with GDM in recent pregnancy who were followed for at least 1 year postpartum to quantify their cardiovascular risks. Read More

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http://dx.doi.org/10.1186/s40834-018-0080-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6258433PMC
November 2018
2 Reads

BLM prevents instability of structure-forming DNA sequences at common fragile sites.

PLoS Genet 2018 11 29;14(11):e1007816. Epub 2018 Nov 29.

Department of Molecular Medicine, The Scripps Research Institute, La Jolla, California, United States of America.

Genome instability often arises at common fragile sites (CFSs) leading to cancer-associated chromosomal rearrangements. However, the underlying mechanisms of how CFS protection is achieved is not well understood. We demonstrate that BLM plays an important role in the maintenance of genome stability of structure-forming AT-rich sequences derived from CFSs (CFS-AT). Read More

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http://dx.doi.org/10.1371/journal.pgen.1007816DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6289451PMC
November 2018
1 Read

Bile acids and the metabolic syndrome.

Ann Clin Biochem 2019 Mar 4:4563218817798. Epub 2019 Mar 4.

Division of Diabetes, Endocrinology and Metabolism, Imperial College London, London, UK.

Bile acids have important roles in the regulation of lipid, glucose and energy metabolism. Metabolic diseases linked to obesity, including type 2 diabetes mellitus and non-alcoholic fatty liver disease, are associated with dysregulation of bile acid homeostasis. Here, the basic chemistry and regulation of bile acids as well as their metabolic effects will be reviewed. Read More

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http://journals.sagepub.com/doi/10.1177/0004563218817798
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http://dx.doi.org/10.1177/0004563218817798DOI Listing
March 2019
15 Reads

Bloom syndrome with myelodysplastic syndrome that was converted into acute myeloid leukaemia, with new ophthalmologic manifestations: the first report from Syria.

Oxf Med Case Reports 2018 Dec 5;2018(12):omy096. Epub 2018 Nov 5.

Department of Hematology, Faculty of Medicine, University of Damascus, Damascus, Syria.

Bloom syndrome is a rare autosomal recessive disease, in which BLM gene is mutated, leading to genome instability and proneness to malignancy. It is characterized by short stature, sun-sensitive rash and immunodeficiency. We present a case of bloom syndrome with myelodysplasia complicated by acute myeloid leukaemia. Read More

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https://academic.oup.com/omcr/article/doi/10.1093/omcr/omy09
Publisher Site
http://dx.doi.org/10.1093/omcr/omy096DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6217711PMC
December 2018
11 Reads

Progress report on new antiepileptic drugs: A summary of the Fourteenth Eilat Conference on New Antiepileptic Drugs and Devices (EILAT XIV). II. Drugs in more advanced clinical development.

Epilepsia 2018 10;59(10):1842-1866

Department of Pharmacy, School of Pharmacy, University of Washington, Seattle, Washington.

The Fourteenth Eilat Conference on New Antiepileptic Drugs and Devices (EILAT XIV) took place in Madrid, Spain, on May 13-16, 2018 and was attended by 168 delegates from 28 countries. The conference provided a forum for professionals involved in basic science, clinical research, regulatory affairs, and clinical care to meet and discuss the latest advances related to discovery and development of drugs and devices aimed at improving the management of people with epilepsy. This progress report provides a summary of findings on investigational compounds for which data from both preclinical studies and studies in patients were presented. Read More

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http://dx.doi.org/10.1111/epi.14555DOI Listing
October 2018
18 Reads

Grape polyphenols reduce gut-localized reactive oxygen species associated with the development of metabolic syndrome in mice.

PLoS One 2018 11;13(10):e0198716. Epub 2018 Oct 11.

Rutgers, The State University of New Jersey, Department of Plant Biology, Foran Hall, New Brunswick, NJ, United States of America.

High-fat diet (HFD)-induced leaky gut syndrome combined with low-grade inflammation increase reactive oxygen species (ROS) in the intestine and may contribute to dysbiosis and metabolic syndrome (MetS). Poorly bioavailable and only partially metabolizable dietary polyphenols, such as proanthocyanidins (PACs), may exert their beneficial effects on metabolic health by scavenging intestinal ROS. To test this hypothesis, we developed and validated a novel, noninvasive, in situ method for visualizing intestinal ROS using orally administered ROS-sensitive indocyanine green (ICG) dye. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0198716PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6181265PMC
March 2019
2 Reads

Advances in site-specific gene editing for primary immune deficiencies.

Authors:
Caroline Y Kuo

Curr Opin Allergy Clin Immunol 2018 12;18(6):453-458

Division of Allergy, Immunology, and Rheumatology, Department of Pediatrics, David Geffen School of Medicine at the University of California Los Angeles, Los Angeles, California, USA.

Purpose Of Review: Conventional gene therapy has been a successful, curative treatment modality for many primary immune deficiencies with significant improvements in the last decade. However, the risk of leukemic transformation with viral-mediated gene addition still remains, and unregulated gene addition is not an option for certain diseases in which the target gene is closely controlled. The recent bloom in genome modification platforms has created the opportunity to site-specifically correct mutated DNA base pairs or insert a corrective cDNA minigene while maintaining gene expression under control of endogenous regulatory elements. Read More

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http://dx.doi.org/10.1097/ACI.0000000000000483DOI Listing
December 2018
41 Reads

Platelet heterogeneity in activation-induced glycoprotein shedding: functional effects.

Blood Adv 2018 Sep;2(18):2320-2331

Department of Biochemistry, Cardiovascular Research Institute Maastricht, Maastricht University Medical Centre, Maastricht, The Netherlands.

The platelet receptors glycoprotein Ibα (GPIbα) and GPVI are known to be cleaved by members of a disintegrin and metalloprotease (ADAM) family (ADAM10 and ADAM17), but the mechanisms and consequences of this shedding are not well understood. Our results revealed that (1) glycoprotein shedding is confined to distinct platelet populations showing near-complete shedding, (2) the heterogeneity between (non)shed platelets is independent of agonist type but coincides with exposure of phosphatidylserine (PS), and (3) distinct pathways of shedding are induced by elevated Ca, low Ca protein kinase C (PKC), or apoptotic activation. Furthermore, we found that receptor shedding reduces binding of von Willebrand factor, enhances binding of coagulation factors, and augments fibrin formation. Read More

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http://dx.doi.org/10.1182/bloodadvances.2017011544DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6156892PMC
September 2018
3 Reads

BLM can regulate cataract progression by influencing cell vitality and apoptosis.

Exp Eye Res 2019 01 15;178:99-107. Epub 2018 Sep 15.

The Department of Ophthalmology, Affiliated Hospital of Nantong University, Natong, Jiangsu Province, China. Electronic address:

Age-related cataract (ARC) is the most common cause of severe visual impairment and blindness. The precise mechanisms of ARC are not completely understood, but it is well accepted that oxidative damage plays an important role in the disease pathogenesis. BLM, the key enzyme of the double-strand break repair (DSBR) pathway, is part of a family of DNA unwinding enzymes and has a crucial role in multiple steps of the DNA recombination, replication and repair processes. Read More

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http://dx.doi.org/10.1016/j.exer.2018.08.022DOI Listing
January 2019

Klebsiella oxytoca expands in cancer cachexia and acts as a gut pathobiont contributing to intestinal dysfunction.

Sci Rep 2018 Aug 17;8(1):12321. Epub 2018 Aug 17.

Metabolism and Nutrition Research Group, Louvain Drug Research Institute, Université catholique de Louvain, Brussels, Belgium.

Cancer cachexia is a complex multi-organ syndrome characterized by body weight loss, weakness, muscle atrophy and fat depletion. With a prevalence of 1 million people in Europe and only limited therapeutic options, there is a high medical need for new approaches to treat cachexia. Our latest results highlighted microbial dysbiosis, characterized by a bloom in Enterobacteriaceae and altered gut barrier function in preclinical models of cancer cachexia. Read More

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http://dx.doi.org/10.1038/s41598-018-30569-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6098145PMC
August 2018
20 Reads

[Irritable bowel syndrome subtypes and characteristics in children from Panama, Ecuador,El Salvador, Nicaragua and Mexico].

Rev Gastroenterol Peru 2018 Apr-Jun;38(2):131-137

Servicios de Gastroenterología, Hospital del Niño y del Adolescente Morelense en Cuernavaca. Morelos, México.

Introduction: Few pediatric studies classify the irritable bowel syndrome (IBS) subtypes.

Objective: To describe the characteristics and subtypes of IBS in children from Panama, Ecuador, El Salvador, Nicaragua and Mexico.

Material And Methods: Prevalence study performed in children between 8 and 18 years of age with a diagnosis of IBS. Read More

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December 2018

Treatment with camu camu () prevents obesity by altering the gut microbiota and increasing energy expenditure in diet-induced obese mice.

Gut 2018 Jul 31. Epub 2018 Jul 31.

Department of Medicine, Faculty of Medicine, Cardiology Axis of the Québec Heart and Lung Institute, Laval University, Québec, Canada.

Objective: The consumption of fruits is strongly associated with better health and higher bacterial diversity in the gut microbiota (GM). Camu camu () is an Amazonian fruit with a unique phytochemical profile, strong antioxidant potential and purported anti-inflammatory potential.

Design: By using metabolic tests coupled with 16S rRNA gene-based taxonomic profiling and faecal microbial transplantation (FMT), we have assessed the effect of a crude extract of camu camu (CC) on obesity and associated immunometabolic disorders in high fat/high sucrose (HFHS)-fed mice. Read More

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http://dx.doi.org/10.1136/gutjnl-2017-315565DOI Listing
July 2018
10 Reads

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.

Am J Hum Genet 2018 Aug 26;103(2):221-231. Epub 2018 Jul 26.

MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK. Electronic address:

Bloom syndrome, caused by biallelic mutations in BLM, is characterized by prenatal-onset growth deficiency, short stature, an erythematous photosensitive malar rash, and increased cancer predisposition. Diagnostically, a hallmark feature is the presence of increased sister chromatid exchanges (SCEs) on cytogenetic testing. Here, we describe biallelic mutations in TOP3A in ten individuals with prenatal-onset growth restriction and microcephaly. Read More

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http://dx.doi.org/10.1016/j.ajhg.2018.07.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6080766PMC
August 2018
10 Reads

Health supervision for people with Bloom syndrome.

Am J Med Genet A 2018 Sep 28;176(9):1872-1881. Epub 2018 Jul 28.

Department of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, New York, New York.

Bloom Syndrome (BSyn) is an autosomal recessive disorder that causes growth deficiency, endocrine abnormalities, photosensitive skin rash, immune abnormalities, and predisposition to early-onset cancer. The available treatments for BSyn are symptomatic, and early identification of complications has the potential to improve outcomes. To accomplish this, standardized recommendations for health supervision are needed for early diagnosis and treatment. Read More

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http://dx.doi.org/10.1002/ajmg.a.40374DOI Listing
September 2018
2 Reads
2.160 Impact Factor

BLM Potentiates c-Jun Degradation and Alters Its Function as an Oncogenic Transcription Factor.

Cell Rep 2018 Jul;24(4):947-961.e7

National Institute of Immunology, Aruna Asaf Ali Marg, New Delhi 110067, India. Electronic address:

Mutations in BLM helicase predispose Bloom syndrome (BS) patients to a wide spectrum of cancers. We demonstrate that MIB1-ubiquitylated BLM in G1 phase functions as an adaptor protein by enhancing the binding of transcription factor c-Jun and its E3 ligase, Fbw7α. BLM enhances the K48/K63-linked ubiquitylation on c-Jun, thereby enhancing the rate of its subsequent degradation. Read More

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http://dx.doi.org/10.1016/j.celrep.2018.06.101DOI Listing
July 2018
4 Reads

Clinicopathologic characterization of breast carcinomas in patients with non-BRCA germline mutations: results from a single institution's high-risk population.

Hum Pathol 2018 Dec 26;82:20-31. Epub 2018 Jun 26.

University of Virginia, Department of Pathology, Charlottesville, Virginia, USA. Electronic address:

As multigene panel testing for hereditary cancer syndromes becomes commonplace, germline mutations in genes other than BRCA1/2 are increasingly identified in breast cancer patients. While histopathologic features of BRCA-mutated breast cancers have been well-characterized, less is known about non-BRCA-related hereditary cancers. We herein investigate the clinicopathologic characteristics of breast cancers in women with non-BRCA germline mutations. Read More

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http://dx.doi.org/10.1016/j.humpath.2018.06.024DOI Listing
December 2018
1 Read

Comprehensive care of ICU survivors: Development and implementation of an ICU recovery center.

J Crit Care 2018 08;46:141-148

Department of Pharmaceutical Services, Vanderbilt University Medical Center, Nashville, TN, United States.

Purpose: To describe the design and initial implementation of an Intensive Care Unit Recovery Center (ICU-RC) in the United States.

Materials And Methods: A prospective, observational feasibility study was undertaken at an academic hospital between July 2012 and December 2015. Clinical criteria were used to develop the ICU-RC, identify patients at high risk for post intensive care syndrome (PICS), and offer them post-ICU care. Read More

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http://dx.doi.org/10.1016/j.jcrc.2018.02.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6020044PMC
August 2018
1 Read

Pollinator specialization in the enigmatic Rafflesia cantleyi: A true carrion flower with species-specific and sex-biased blow fly pollinators.

Phytochemistry 2018 Sep 12;153:120-128. Epub 2018 Jun 12.

School of Life Sciences, University of KwaZulu-Natal, Pietermaritzburg, South Africa.

The plants of the enigmatic genus Rafflesia are well known for their gigantic flowers and their floral features such as pungent floral scent and vivid dark color, which mimics the food/brood sites of carrion. However, information on the pollination biology of this plant group remains limited and mostly anecdotal. In the present paper, we studied the floral volatiles of R. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00319422183019
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http://dx.doi.org/10.1016/j.phytochem.2018.06.005DOI Listing
September 2018
12 Reads

Absence of Axoglial Paranodal Junctions in a Child With CNTNAP1 Mutations, Hypomyelination, and Arthrogryposis.

J Child Neurol 2018 09 8;33(10):642-650. Epub 2018 Jun 8.

1 Department of Neurology, Children's National Health System, Washington, DC, USA.

Leukodystrophies and genetic leukoencephalopathies are a heterogeneous group of heritable disorders that affect the glial-axonal unit. As more patients with unsolved leukodystrophies and genetic leukoencephalopathies undergo next generation sequencing, causative mutations in genes leading to central hypomyelination are being identified. Two such individuals presented with arthrogryposis multiplex congenita, congenital hypomyelinating neuropathy, and central hypomyelination with early respiratory failure. Read More

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http://dx.doi.org/10.1177/0883073818776157DOI Listing
September 2018
39 Reads

The Outcomes of Posterior Arthrodesis for Atlantoaxial Subluxation in Down Syndrome Patients: A Meta-Analysis.

Clin Spine Surg 2018 Aug;31(7):300-305

Department of Orthopaedic Surgery and Rehabilitation Medicine, Downstate Medical Center, State University of New York, Brooklyn, NY.

Study Design: This is a meta-analysis.

Objective: To establish rates of (1) neurological complications, (2) bony-related complications, (3) complications delaying recovery, (4) reoperation, and (5) fatalities following posterior cervical arthrodesis in Down syndrome (DS) patients with atlantoaxial subluxation. To determine if presenting symptoms had any relationship to postoperative complications. Read More

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http://dx.doi.org/10.1097/BSD.0000000000000658DOI Listing
August 2018
4 Reads

Bloom syndrome sans characteristic facial features in a Mestizo patient- a diagnostic challenge.

Indian J Dermatol Venereol Leprol 2019 Jan-Feb;85(1):130

Department of Genetics, Hospital Universitario "Dr. José Eleuterio González" UANL, Monterrey, Nuevo León, Mexico.

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http://dx.doi.org/10.4103/ijdvl.IJDVL_787_16DOI Listing
April 2019
13 Reads

[Clinical and molecular analysis of two Chinese siblings with Bloom syndrome].

Zhonghua Er Ke Za Zhi 2018 May;56(5):373-376

Department of Endocrinology and Metabolism, Shanghai Children's Medical Center, Shanghai 200127, China.

To expand the knowledge of the clinical and molecular characteristics of the children with Bloom syndrome. Clinical data of two siblings with classic Bloom syndrome of Shanghai Children's Medical Center from January 2009 to June 2017 were obtained and analyzed. The DNA of peripheral blood was collected from two Bloom syndrome siblings and their parents during 2015. Read More

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http://dx.doi.org/10.3760/cma.j.issn.0578-1310.2018.05.013DOI Listing
May 2018
4 Reads

RECQ helicase disease and related progeroid syndromes: RECQ2018 meeting.

Mech Ageing Dev 2018 07 9;173:80-83. Epub 2018 May 9.

Department of Clinical Cell Biology and Medicine, Chiba University, Graduate School of Medicine, Chiba, Japan.

Progeroid syndrome is a group of disorders characterized by the early onset of diseases that are associated with aging. Best known examples are Werner syndrome, which is adult onset and results from disease-causing DNA sequence variants in the RecQ helicase gene WRN, and Hutchison-Gilford progeria syndrome, which is childhood-onset and results from unique, recurrent disease-causing DNA sequence variants of the gene LMNA that encodes nuclear intermediate filaments. Related single gene RecQ disorders are Bloom syndrome and Rothmund-Thomson syndrome. Read More

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http://dx.doi.org/10.1016/j.mad.2018.05.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6217841PMC
July 2018
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Placental DNA Methylation Adaptation to Maternal Glycemic Response in Pregnancy.

Diabetes 2018 08 11;67(8):1673-1683. Epub 2018 May 11.

Division of Chronic Disease Research Across the Lifecourse, Department of Population Medicine, Harvard Medical School and Harvard Pilgrim Health Care Institute, Boston, MA

Maternal hyperglycemia during pregnancy is associated with excess fetal growth and adverse perinatal and developmental outcomes. Placental epigenetic maladaptation may underlie these associations. We performed an epigenome-wide association study (>850,000 CpG sites) of term placentas and prenatal maternal glycemic response 2-h post oral glucose challenge at 24-30 weeks of gestation among 448 mother-infant pairs. Read More

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http://dx.doi.org/10.2337/db18-0123DOI Listing
August 2018
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