168,328 results match your criteria Variant Creutzfeldt-Jakob Disease and Bovine Spongiform Encephalopathy


Uromodulin in a pathway between decreased renal urate excretion and albuminuria.

Am J Hypertens 2018 Dec 14. Epub 2018 Dec 14.

Centre de recherche du CHUM, Montréal, Quebec, Canada.

Background: The mechanism explaining the inverse association between renal urate and albumin excretion remains unclear. First, we evaluated the impact of candidate variants in the main urate transporter genes (i.e. Read More

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December 2018

Common genetic variants contribute to incomplete penetrance: evidence from cancer-free BRCA1 mutation carriers.

Eur J Cancer 2018 Dec 11;107:68-78. Epub 2018 Dec 11.

Department of Genetics, Cell Biology and Anatomy, College of Medicine, USA; Cancer Centre and Institute of Translational Medicine, Faculty of Health Sciences, University of Macau, Taipa, Macau, SAR, China. Electronic address:

Purpose: The presence of pathogenic germline mutation in BRCA1 gene is considered as the most penetrant genetic predisposition for breast cancer. However, a portion of BRCA1 mutation carriers never develops breast cancer throughout their lifetime. This phenomenon is called incomplete penetrance. Read More

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December 2018

The helix-to-sheet transition of an HIV-1 fusion peptide derivative changes the mechanical properties of lipid bilayer membranes.

Biochim Biophys Acta Biomembr 2018 Dec 11. Epub 2018 Dec 11.

Forschungszentrum Jülich GmbH, Jülich Centre for Neutron Science at SNS, Oak Ridge National Laboratory, Oak Ridge, TN 37831, United States of America.

A short sequence on the gp41 envelope protein of HIV-1 is integral to infection by the virus. Without this sequence, termed the fusion peptide (FP), the virus is far less effective at fusing with the cellular membrane. One of the interesting features of the isolated FP is that it transitions between an α-helical conformation and a β-sheet conformation in lipid bilayer membranes as a function of lipid composition and concentration, and the transition correlates with fusion. Read More

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December 2018

A high throughput neutralization test based on GFP expression by recombinant rabies virus.

PLoS Negl Trop Dis 2018 Dec 14;12(12):e0007011. Epub 2018 Dec 14.

Poxvirus and Rabies Branch, Centers for Disease Control and Prevention, Atlanta, Georgia, United States of America.

The effectiveness of rabies vaccination in both humans and animals is determined by the presence of virus neutralizing antibodies (VNAs). The Rapid Fluorescent Focus Inhibition Test (RFFIT) is the method traditionally used for detection and quantification of VNAs. It is a functional in vitro test for assessing the ability of antibodies in serum to bind and prevent infection of cultured cells with rabies virus (RABV). Read More

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December 2018

Toll-like receptor chaperone HSP90B1 and the immune response to Mycobacteria.

PLoS One 2018 14;13(12):e0208940. Epub 2018 Dec 14.

University of Washington, Seattle, WA, United States of America.

Rationale: HSP90B1, also known as gp96, is a chaperone for multiple Toll-like receptors (TLRs) and is necessary for TLR-mediated inflammatory responses in murine myeloid cells. The molecule is also expressed in T-cells though its specific role is unknown. We hypothesized that human HSP90B1 regulates monocyte and T-cell responses to Mycobacterium tuberculosis (Mtb) and bacilli Calmette-Guerin (BCG) and that its variants are associated with susceptibility to TB disease. Read More

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December 2018

Novel mass spectrometry based detection and identification of variants of rabies virus nucleoprotein in infected brain tissues.

PLoS Negl Trop Dis 2018 Dec 14;12(12):e0006984. Epub 2018 Dec 14.

Poxvirus and Rabies Branch, Centers for Disease Control and Prevention, Atlanta, GA, United States of America.

Human rabies is an encephalitic disease transmitted by animals infected with lyssaviruses. The most common lyssavirus that causes human infection is rabies virus (RABV), the prototypic member of the genus. The incubation period of RABV in humans varies from few weeks to several months in some instances. Read More

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December 2018

High-grade Endometrial Carcinomas: Morphologic and Immunohistochemical Features, Diagnostic Challenges and Recommendations.

Int J Gynecol Pathol 2019 Jan;38 Suppl 1:S40-S63

Department of Pathology, Memorial Sloan Kettering Cancer Center (R.M., R.A.S.) New York University Medical Center and School of Medicine, Tisch Hospital (K.M.), New York Department of Pathology, University Hospital, Stony Brook School of Medicine, Stony Brook (C.T.), New York Department of Pathology, Oslo University Hospital, Norwegian Radium Hospital; Faculty of Medicine, Institute of Clinical Medicine, University of Oslo, Oslo, Norway (B.D.) Department of Pathology, University of California San Diego, San Diego (O.F.) Department of Pathology, Cedars-Sinai Medical Center, Los Angeles (J.K.L.R.), California Department of Pathology, Karolinska Institutet, Stockholm, Sweden (J.A.C.) Department of Pathology, Brigham and Women's Hospital, Harvard Medical School (C.P.C.) Department of Pathology, Massachussetts General Hospital, Harvard Medical School (E.O.), Boston, Massachussetts Department of Pathology, University of British Columbia, Vancouver (C.B.G., J.A.I.) Department of Laboratory Medicine, Pathology and Medical Genetics, Royal Jubilee Hospital, Victoria (J.A.I.), BC, Canada Department of Pathology, The University of Texas M. D. Anderson Cancer Center, Houston, Texas (A.M.) Department of Pathology, Hospital University Arnau de Vilanova; and Department of Pathology, Hospital University de Bellvitge, IRBLLEIDA, IDIBELL, University of Lleida, CIBERONC, Barcelona, Spain (X.M.-G.) Department of Pathology, Belfast Health and Social Care Trust, Belfast, UK (W.G.M.) Department of Pathology and Obstetrics and Gynecology, Yale School of Medicine and Yale School of Publich Health, New Haven, Connecticut (V.P.) Department of Pathology, University of Maryland School of Medicine, Baltimore, Maryland (P.N.S.) Department of Pathology, KEMH and School for Women's and Infants' Health, University of Western Australia, Perth, WA, Australia (C.J.R.S.).

This review of challenging diagnostic issues concerning high-grade endometrial carcinomas is derived from the authors' review of the literature followed by discussions at the Endometrial Cancer Workshop sponsored by the International Society of Gynecological Pathologists in 2016. Recommendations presented are evidence-based, insofar as this is possible, given that the levels of evidence are weak or moderate due to small sample sizes and nonuniform diagnostic criteria used in many studies. High-grade endometrioid carcinomas include FIGO grade 3 endometrioid carcinomas, serous carcinomas, clear cell carcinomas, undifferentiated carcinomas, and carcinosarcomas. Read More

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January 2019

Lipoprotein metabolism in liver diseases.

Curr Opin Lipidol 2018 Dec 12. Epub 2018 Dec 12.

Division of Gastroenterology and Hepatology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts, USA.

Purpose Of Review: The liver is the central hub of lipoprotein metabolism. A complex relationship exists between dyslipidemia and chronic liver diseases (CLDs). Recent advances in the genetics of nonalcoholic fatty liver disease (NAFLD) and alcoholic liver disease (ALD) exemplify the pivotal role of lipoprotein metabolism in the pathogenesis of CLD. Read More

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December 2018

Effects of apolipoprotein E on nutritional metabolism in dementia.

Curr Opin Lipidol 2018 Dec 12. Epub 2018 Dec 12.

Geriatric Research, Education, and Clinical Center, Veterans Affairs Puget Sound Healthcare System.

Purpose Of Review: Various groups have explored the effect of apolipoprotein E (APOE) on neurodegeneration through nutritional and metabolic alterations. In this review, we hope to summarize recent findings in humans as well as preclinical APOE models.

Recent Findings: Metabolic pathways including lipid metabolism appear to play a large role in the pathophysiology of Alzheimer's disease. Read More

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December 2018

Structural deciphering of the NG2/CSPG4 proteoglycan multifunctionality.

FASEB J 2018 Dec 14:fj201801670R. Epub 2018 Dec 14.

Centre for Molecular and Translational Oncology (COMT), University of Parma, Parma, Italy.

The chondroitin sulfate proteoglycan 4 ( CSPG4) gene encodes a transmembrane proteoglycan (PG) constituting the largest and most structurally complex macromolecule of the human surfaceome. Its transcript shows an extensive evolutionary conservation and, due to the elaborated intracellular processing of the translated protein, it generates an array of glycoforms with the potential to exert variant-specific functions. CSPG4-mediated molecular events are articulated through the interaction with more than 40 putative ligands and the concurrent involvement of the ectodomain and cytoplasmic tail. Read More

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December 2018

[FSGS collapsing variant during anabolic steroid abuse: Case Report].

G Ital Nefrol 2018 Dec;35(6)

UO Nefrologia e Dialisi AUSL Romagna Ospedale Infermi Rimini.

Anabolic Androgenic Steroids (AAS) is an hormone family whose use has considerably increased among body-builders during the last decades. The AAS abuse, especially associated with other drugs or nutritional supplements and protein loads, may cause a variety of pathologies to several organs with a mechanism related to dosage, timing and substance. The kidney is the main metabolizer of these drugs and it can be acutely or chronically damaged with ESKD. Read More

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December 2018

A case of YY1-associated syndromic learning disability or Gabriele-de Vries syndrome with myasthenia gravis.

Am J Med Genet A 2018 Dec 14. Epub 2018 Dec 14.

Department of Neurology, Mayo Clinic, Mayo Clinic, Scottsdale, Arizona.

Exome sequencing is being used increasingly to evaluate patients with intellectual disability. YY1 is a ubiquitously distributed transcription factor belonging to the GLIKruppel class of zinc finger proteins recently recognized as the causative gene in 23 patients for the Gabriele-de Vries syndrome. We report a new case with similar features and a novel variant in YY1, in a region of the gene, which has not previously been reported. Read More

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December 2018

Gene mutations in a Han Chinese Alzheimer's disease cohort.

Brain Behav 2018 Dec 14:e01180. Epub 2018 Dec 14.

Department of Neurology, Xinxiang Medical University, Xinxiang, China.

Objective: Alzheimer's disease (AD) is the most common form of dementia characterized by memory loss at disease onset. The gene mutations in the amyloid precursor protein (APP), presenilin 1 (PSEN1), and presenilin 2 (PSEN2) are the frequent causes of AD. However, the clinical and genetic features of AD overlap with other neurodegenerative diseases. Read More

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December 2018

DNA damage signatures in peripheral blood cells (PBMC) as biomarkers in prodromal Huntington's disease.

Ann Neurol 2018 Dec 14. Epub 2018 Dec 14.

Department of Biology, University of Naples "Federico II", Naples, Italy.

Easily accessible biomarkers in Huntington disease (HD) are actively searched. We investigated telomere length (TL) and DNA double-strand breaks (histone variant pγ-H2AX) as predictive disease biomarkers in peripheral blood mononuclear cells (PBMC) from 25 pre-manifest, 58 HD patients, with similar CAG expansion in the huntingtin gene (HTT) gene and 44 healthy controls (HC). PBMC from PRE-HD and HD groups showed shorter telomeres (p<0. Read More

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December 2018

Genotype, extrapyramidal features and severity of variant Ataxia-Telangiectasia.

Ann Neurol 2018 Dec 14. Epub 2018 Dec 14.

Ataxia Telangiectasia Service, Respiratory Support and Sleep Centre, Papworth Hospital. Papworth Everard, Cambridge, CB23 3RE, UK.

Objective: Variant Ataxia-Telangiectasia is caused by mutations that allow some retained ATM kinase activity. Here, we describe the clinical features of the largest established cohort of individuals with variant Ataxia-Telangiectasia and explore genotype-phenotype correlations.

Methods: Cross-sectional data were collected retrospectively. Read More

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December 2018
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Impact of genetic variation on pravastatin systemic exposure in pediatric hypercholesterolemia.

Clin Pharmacol Ther 2018 Dec 14. Epub 2018 Dec 14.

Division of Clinical Pharmacology, Medical Toxicology and Therapeutic Innovation, Children's Mercy, Kansas City, MO.

This study investigated the impact of SLCO1B1 genotype on pravastatin systemic exposure in hypercholesterolemic children and adolescents. Participants (8-20 years) with at least one allelic variant of SLCO1B1 c.521T>C (521TC, n=15; 521CC, n=2) and wild type controls (521TT, n=15) completed a single oral dose pharmacokinetic study. Read More

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December 2018

Detection of an HLA-C*03 variant, HLA-C*03:258, in a Taiwanese individual.

Authors:
K L Yang P Y Lin

HLA 2018 Dec 13. Epub 2018 Dec 13.

Laboratory of Immunogenetics, Tzu Chi Cord Blood Bank, and Buddhist Tzu Chi Bone Marrow Donor Registry, Buddhist Tzu Chi Stem Cells Centre, Hualien Tzu Chi Hospital, Hualien, Taiwan.

One nucleotide substitution at residue 506 of HLA-C*03:02:01 results in a novel allele, HLA-C*03:258. This article is protected by copyright. All rights reserved. Read More

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December 2018

Surface Attachment Enhances the Thermodynamic Stability of Protein L.

Angew Chem Int Ed Engl 2018 Dec 13. Epub 2018 Dec 13.

University of California Santa Barbara, Department of Chemistry and Biochemistry, Dept. Chem & Biochem, UCSB, 93106, Santa Barbara, UNITED STATES.

Despite the importance of protein-surface interactions in both biology and biotechnology, our understanding of their origins is limited due to a paucity of experimental studies of the thermodynamics behind such interactions. In response we have characterized the extent to which interaction with a chemically well-defined macroscopic surface alters the stability of protein L. To do so, we site-specifically attached a redox-reporter-modified protein variant to a hydroxyl-terminated monolayer on a gold surface and then used electrochemistry to monitor its guanidine denaturation and determine its folding free energy. Read More

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December 2018

Integrating molecular networks with genetic variant interpretation for precision medicine.

Wiley Interdiscip Rev Syst Biol Med 2018 Dec 12:e1443. Epub 2018 Dec 12.

Department of Medicine and Institute for Genomic Medicine, University of California, San Diego, La Jolla, California.

More reliable and cheaper sequencing technologies have revealed the vast mutational landscapes characteristic of many phenotypes. The analysis of such genetic variants has led to successful identification of altered proteins underlying many Mendelian disorders. Nevertheless the simple one-variant one-phenotype model valid for many monogenic diseases does not capture the complexity of polygenic traits and disorders. Read More

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December 2018

Association of Group-specific Component Exon 11 Polymorphisms with Bronchial Asthma in Children and Adolescents.

Scand J Immunol 2018 Dec 12:e12740. Epub 2018 Dec 12.

Genetics Unit, Department of Histology and Cell Biology, Faculty of Medicine, Suez Canal University, Ismailia, Egypt.

Several studies have investigated the association of Group-specific Component (GC) gene, also known as vitamin D binding protein (VDBP), and various respiratory disorder susceptibility with conflicting results. In this sense, we aimed to investigate whether rs7041 and rs4588 variants confer susceptibility to bronchial asthma in a sample of an Egyptian population and to elucidate by in silico analysis the structural and functional impact of these variants. GC polymorphisms rs7041 and rs4588 were genotyped in 192 Egyptian children and adolescents (96 with asthma and 96 healthy controls) by TaqMan single nucleotide polymorphism genotyping assay. Read More

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December 2018

Identification of ANLN as a new likely pathogenic gene of branchio-otic syndrome in a three-generation Chinese family.

Mol Genet Genomic Med 2018 Dec 11. Epub 2018 Dec 11.

Department of Otorhinolaryngology, Shanghai East Hospital, Tongji University, Shanghai, China.

Background: Branchio-oto-renal (BOR) syndrome is one of the most common autosomal dominant hearing loss syndromes and features clinical and genetic heterogeneity. When there is no renal deformity, this disease can also be called branchio-otic (BO) syndrome. Though many genes have been reported, there are still many BO syndrome-related genes to be identified. Read More

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December 2018

Identification of a de novo splicing variant in the Coffin-Siris gene, SMARCE1, in a patient with Angelman-like syndrome.

Mol Genet Genomic Med 2018 Dec 11. Epub 2018 Dec 11.

Genetics Laboratory, UDIAT-Centre Diagnòstic, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí I3PT, Universitat Autònoma de Barcelona, Sabadell, Spain.

Background: Patients affected by Angelman syndrome (AS) present severe intellectual disability, lack of speech, ataxia, seizures, abnormal electroencephalography (EEG), and a characteristic behavioral phenotype. Around 10% of patients with a clinical diagnosis of AS (AS-like) do not have an identifiable molecular defect. Some of these patients harbor alternative genetic defects that present overlapping features with AS. Read More

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December 2018

A biallelic truncating AEBP1 variant causes connective tissue disorder in two siblings.

Am J Med Genet A 2018 Dec 11. Epub 2018 Dec 11.

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.

Biallelic variants in the AEBP1 gene cause a novel autosomal-recessive connective tissue disorder (CTD) reminiscent of Ehlers-Danlos Syndrome (EDS). The four previously reported individuals show considerable clinical variability. Unbiased high-throughput sequencing enables the rapid identification of additional cases for such rare entities. Read More

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December 2018

Novel variants in SPTAN1 without epilepsy: An expansion of the phenotype.

Am J Med Genet A 2018 Dec 11. Epub 2018 Dec 11.

Office of the Clinical Director, NHGRI, and NIH Undiagnosed Diseases Program, Office of the Director, National Institutes of Health, Bethesda, Maryland.

We describe two unrelated children with de novo variants in the non-erythrocytic alpha-II-spectrin (SPTAN1) gene who have hypoplastic brain structures, intellectual disability, and both fine and gross motor impairments. Using agnostic exome sequencing, we identified a nonsense variant creating a premature stop codon in exon 21 of SPTAN1, and in a second patient we identified an intronic substitution in SPTAN1 prior to exon 50 creating a new donor acceptor site. Neither of these variants has been described previously. Read More

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December 2018

A new RHD variant allele in Exon 2 identified in a Chinese individual.

Transfusion 2018 Dec 11. Epub 2018 Dec 11.

Qingdao Blood Center, Institute of Transfusion Medicine, Qingdao, China.

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December 2018

A study in a Polish ataxia cohort indicates genetic heterogeneity and points to MTCL1 as a novel candidate gene.

Clin Genet 2018 Dec 11. Epub 2018 Dec 11.

Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.

Inherited ataxias are a group of highly heterogeneous, complex neurological disorders representing a significant diagnostic challenge in clinical practice. We performed next generation sequencing analysis in 10 index cases with unexplained progressive cerebellar ataxia of suspected autosomal recessive inheritance. A definite molecular diagnosis was obtained in 5/10 families and included the following diseases: autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), POLR3B-related hypomyelinating leukodystrophy, primary coenzyme Q10 deficiency type 4, Niemann-Pick disease type C1 and SYNE1-related ataxia. Read More

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December 2018

Covalent Vs Non-Covalent inhibition: Tackling Drug Resistance in EGFR - A Thorough Dynamic Perspective.

Chem Biodivers 2018 Dec 11. Epub 2018 Dec 11.

University of KwaZulu-Natal, Westville, School of Health Sciences, School of Health Sciences, University of, Not Available, 4001, Durban, SOUTH AFRICA.

A persistent challenge in the treatment of non-small cell lung cancer (NSCLC) with EGFR is the emergence of drug-resistant caused by somatic mutations. The EGFR L858R/T790M double mutant (EGFRDM) was found to be the most alarming variant. Despite the development of a wide range of inhibitors, none of them could inhibit EGFRDM effectively. Read More

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December 2018

Association of Klotho gene polymorphism with hypertension and coronary artery disease in an Iranian population.

BMC Cardiovasc Disord 2018 Dec 14;18(1):237. Epub 2018 Dec 14.

Cardiovascular Research Center, Institute of Basic and Clinical Physiology Sciences, Kerman University of Medical Sciences, Kerman, Iran.

Background: Klotho, possibly an age-regulating protein, is considered an important factor contributing to the lifespan and pathophysiology of hypertension and coronary artery disease (CAD). The present study was carried out aiming to investigate the association of Klotho-rs564481 (C1818T) gene polymorphism with hypertension and CAD.

Methods: A total of 286 CAD-suspicious subjects were entered into this case-control study. Read More

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December 2018

Phase Stability of Dynamically Disordered Solids from First Principles.

Phys Rev Lett 2018 Nov;121(22):225702

Theoretical Physics Division, Department of Physics, Chemistry and Biology (IFM), Linköping University, SE-581 83, Linköping, Sweden.

Theoretical studies of phase stability in solid materials with dynamic disorder are challenging due to the failure of the standard picture of atoms vibrating around fixed equilibrium positions. Dynamically disordered solid materials show immense potential in applications. In particular, superionic conductors, where the disorder results in exceptionally high ionic conductivity, are very promising as solid state electrolytes in batteries and fuel cells. Read More

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November 2018

Fractional Angular Momentum at Topological Insulator Interfaces.

Phys Rev Lett 2018 Nov;121(22):227001

Institute for Theoretical Solid State Physics, IFW Dresden, Helmholtzstrasse 20, 01069 Dresden, Germany.

Recently, two fundamental topological properties of a magnetic vortex at the interface of a superconductor (SC) and a strong topological insulator (TI) have been established: The vortex carries both a Majorana zero mode relevant for topological quantum computation and, for a time-reversal invariant TI, a charge of e/4. This fractional charge is caused by the axion term in the electromagnetic Lagrangian of the TI. Here we determine the angular momentum J of the vortices, which in turn determines their mutual statistics. Read More

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November 2018

Space-variant Gabor decomposition for filtering 3D medical images.

Comput Anal Images Patterns 2017 28;10425:455-461. Epub 2017 Jul 28.

University of Seville, Spain.

This is an experimental paper in which we introduce the possibility to analyze and to synthesize 3D medical images by using multi-variate Gabor frames with Gaussian windows. Our purpose is to apply a space-variant filter-like operation in the space-frequency domain to correct medical images corrupted by different types of acquisitions errors. The Gabor frames are constructed with Gaussian windows sampled on non-separable lattices for a better packing of the space-frequency plane. Read More

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A familial case of multiple recurrent cardiac myxomas.

J Cardiol Cases 2013 Oct 13;8(4):142-144. Epub 2013 Sep 13.

Institute of Cardiovascular Surgery and Cardiology, Cardiovascular Center, Sagamihara Kyo-do Hospital, 2-8-18 Hashimoto, Midori-ku, Sagamihara, Kanagawa 252-5188, Japan.

The familial variant of cardiac myxomas is an autosomally dominant disease. Here, we report a case of recurrent multiple cardiac myxomas wherein the patient, a 36-year-old woman who was referred for palpitations and nocturnal dyspnea, had a relevant familial history. Her mother had undergone extirpation of cardiac myxoma when she was about 50 years old. Read More

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October 2013

Sequential transition of mid-basilar variant to apical form of Takotsubo syndrome.

J Cardiol Cases 2013 Sep 11;8(3):99-104. Epub 2013 Jul 11.

Department of Cardiology, Mayo Clinic, Mayo College of Medicine, Rochester, MN 55905, USA.

Takotsubo syndrome, also called apical ballooning syndrome, is a clinical entity characterized by transient hypokinesis, akinesis, or dyskinesis of the left ventricular mid and apical segments without flow limiting obstructive coronary lesions. There have been many reported morphologic variants of apical ballooning syndrome based upon distribution of segment involvement including traditional apical, midventricular, and basilar. We present a patient who demonstrated sequential transition of mid-basilar type to classical apical ballooning type. Read More

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September 2013

Atypical type of dual left anterior descending coronary artery.

J Cardiol Cases 2013 Jul 15;8(1):e39-e41. Epub 2013 Apr 15.

Department of Cardiology, School of Medicine, Bulent Ecevit University, Kozlu 67600, Zonguldak, Turkey.

Dual left anterior descending coronary artery (LAD) is a rare coronary anomaly and is divided into six subgroups in the literature according to the origin and course of the short and long branches of the anomalous artery. We present two distinct cases of dual LAD which are distinguished by two branches of equal length from their counterparts in the literature. < In our cases a novel dual LAD variant is presented with two main branches of equal length and reaches the cardiac apex. Read More

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Transient semi-circumferential mid-ventricular ballooning: An atypical variant of takotsubo cardiomyopathy.

J Cardiol Cases 2016 Jul 1;14(1):21-23. Epub 2016 Apr 1.

Department of Cardiovascular Medicine, Chiba University Graduate School of Medicine, Chiba, Japan.

Although apical ballooning is the most common morphological type of takotsubo cardiomyopathy, variants have been reported. Several case reports have demonstrated focal takotsubo cardiomyopathy. Most cases had left ventricular wall motion abnormality in the anterolateral segment. Read More

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Anomalous left internal mammary artery arising from an aberrant artery of the aorta in a patient with "pseudo bovine" aortic arch anatomy.

J Cardiol Cases 2016 Jul 29;14(1):11-12. Epub 2016 Mar 29.

Division of Cardiology, Atlanta Veterans Affairs Medical Center, Decatur, GA, USA.

Many different aortic arch variants have been documented before. Pseudo bovine arch is the most common variant of the aortic arch. Pseudo bovine arch with other factors such as stenosis and calcification impose great difficulties even for experienced cardiologists. Read More

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Imaging essentials before transcatheter closure of an atrial septal defect: Detection of an unusual contraindication.

J Cardiol Cases 2016 Apr 6;13(4):109-111. Epub 2016 Feb 6.

Department of Cardiology, Sri Jayadeva Institute of Cardiovascular Sciences and Research, Bengaluru, Karnataka, India.

Currently there are few contraindications to transcatheter closure of secundum atrial septal defects (ASDs). Known device-related complications of percutaneous ASD closure are worsening of aortic regurgitation and cardiac erosion. Interference of a septal occluder with anatomic variant coronaries is a rare but important complication that can result in post-interventional fatalities. Read More

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Cardiogenic shock induced by bisoprolol in a patient with CYP2D6 variant. A case report.

J Cardiol Cases 2015 Apr 19;11(4):109-112. Epub 2015 Jan 19.

Cardiovascular Center, Tachikawa General Hospital, Nagaoka, Japan.

A 66-year-old man was admitted for congestive heart failure with tachycardiac atrial fibrillation (AF). Heart failure was improved by diuretics, but control of heart rate by verapamil was insufficient, and bisoprolol was prescribed. After taking 2. Read More

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Texture Evolution during Isothermal, Isostrain and Isobaric Loading of Polycrystalline Shape Memory NiTi.

Appl Phys Lett 2017 Jun 23;110(25). Epub 2017 Jun 23.

Advanced Materials Processing and Analysis Center (AMPAC); Materials Science and Engineering Department; Mechanical and Aerospace Engineering Department; University of Central Florida, 12760 Pegasus Drive, Orlando, FL 32816, USA.

neutron diffraction was used to provide insight into martensite variant microstructures during isothermal, isobaric, and isostrain loading in shape memory NiTi. Results show variant microstructures were equivalent for the corresponding strain and more importantly, the reversibility and equivalency was immediately evident in variant microstructures that were first formed isobarically but then reoriented to a near random self-accommodated microstructure following isothermal deformation. Variant microstructures formed isothermally were not significantly affected by a subsequent thermal cycle under constant strain. Read More

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Recurrent takotsubo cardiomyopathy with variant forms of left ventricular dysfunction.

J Cardiol Cases 2010 Aug 20;2(1):e37-e40. Epub 2010 Feb 20.

Ohtaki Hearts Clinic, Bunkyo-ku, Tokyo, Japan.

A 78-year-old man presented to our emergency department with dyspnea. The patient was diagnosed as having pneumonia from the chest X-ray which depicted mass-like opacity in the left lower lobe. On the 5th hospital day, electrocardiography showed giant negative T waves in pericardial leads and echocardiography demonstrated left ventricular apical akinesis and basal hyperkinesis. Read More

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Functional significance of channelopathy gene variants in unexplained death.

Forensic Sci Med Pathol 2018 Dec 13. Epub 2018 Dec 13.

Pediatrics, NYU School of Medicine, 450 E 29th Street, ACLS 824, New York, NY, 10016, USA.

Determining the cause of unexplained death in all age groups, including infants, is a priority in forensic medicine. The triple risk model proposed for sudden infant death syndrome involves the intersection of three risks: (1) a critical developmental period in homeostatic control (2), exogenous stressors, and (3) a vulnerable infant. Even though sex and age factor into some forms of inherited arrhythmogenic deaths in young individuals and adults, more appropriate a dual-risk disease model for adults involves exogenous stressors and a vulnerable individual. Read More

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December 2018
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A novel rare CUBN variant and three additional genes identified in Europeans with and without diabetes: results from an exome-wide association study of albuminuria.

Diabetologia 2018 Dec 13. Epub 2018 Dec 13.

Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.

Aims/hypothesis: Identifying rare coding variants associated with albuminuria may open new avenues for preventing chronic kidney disease and end-stage renal disease, which are highly prevalent in individuals with diabetes. Efforts to identify genetic susceptibility variants for albuminuria have so far been limited, with the majority of studies focusing on common variants.

Methods: We performed an exome-wide association study to identify coding variants in a two-stage (discovery and replication) approach. Read More

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December 2018

Characterisation of barley resistance to rhynchosporium on chromosome 6HS.

Theor Appl Genet 2018 Dec 13. Epub 2018 Dec 13.

The James Hutton Institute, Invergowrie, Dundee, DD2 5DA, Scotland, UK.

Key Message: Major resistance gene to rhynchosporium, Rrs18, maps close to the telomere on the short arm of chromosome 6H in barley. Rhynchosporium or barley scald caused by a fungal pathogen Rhynchosporium commune is one of the most destructive and economically important diseases of barley in the world. Testing of Steptoe × Morex and CIho 3515 × Alexis doubled haploid populations has revealed a large effect QTL for resistance to R. Read More

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December 2018
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Enrichment and Genomic Characterization of a NO-Reducing Chemolithoautotroph From a Deep-Sea Hydrothermal Vent.

Front Bioeng Biotechnol 2018 28;6:184. Epub 2018 Nov 28.

Laboratory of Microbiology, Faculty of Fisheries Sciences, Hokkaido University, Hakodate, Japan.

Nitrous oxide (NO) is a greenhouse gas and also leads to stratospheric ozone depletion. In natural environments, only a single NO sink process is the microbial reduction of NO to N, which is mediated by nitrous oxide reductase (NosZ) encoded by gene. The phylogeny has two distinct clades, clade I and formerly overlooked clade II. Read More

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November 2018

Genetic associations of T cell cancer immune response with tumor aggressiveness in localized prostate cancer patients and disease reclassification in an active surveillance cohort.

Oncoimmunology 2019 29;8(1):e1483303. Epub 2018 Oct 29.

Departments of Epidemiology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.

Determining prostate cancer (PCa) aggressiveness and reclassification are critical events during the treatment of localized disease and for patients undergoing active surveillance (AS). Since T cells play major roles in cancer surveillance and elimination, we aimed to identify genetic biomarkers related to T cell cancer immune response which are predictive of aggressiveness and reclassification risks in localized PCa. The genotypes of 3,586 single nucleotide polymorphisms (SNPs) from T cell cancer immune response pathways were analyzed in 1762 patients with localized disease and 393 who elected AS. Read More

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October 2018

Frequent activating STAT3 mutations and novel recurrent genomic abnormalities detected in breast implant-associated anaplastic large cell lymphoma.

Oncotarget 2018 Nov 16;9(90):36126-36136. Epub 2018 Nov 16.

Department of Pathology, Peter MacCallum Cancer Centre, Melbourne, VIC, Australia.

Breast implant-associated anaplastic large cell lymphoma (BIA-ALCL) is a rare form of T-cell lymphoma that occurs after implantation of breast prostheses. We performed comprehensive next generation sequencing based genomic characterization of 11 cases of BIA-ALCL including sequence variant detection on 180 genes frequently mutated in haematological malignancy, genome-wide copy number assessment, structural variant detection involving the T-cell receptor loci and TRB deep-sequencing. We observed sequence variants leading to JAK/STAT activation in 10 out of 11 patients. Read More

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November 2018

Targeted next-generation sequencing of cancer-related genes in thyroid carcinoma: A single institution's experience.

Oncol Lett 2018 Dec 2;16(6):7278-7286. Epub 2018 Oct 2.

Department of Biology and Genetics, Laboratory of Cancer Medical Science, Hokuto Hospital, Obihiro, Hokkaido 080-0833, Japan.

Thyroid carcinoma (TC) has characteristic genetic alterations, including point mutations in proto-oncogenes and chromosomal rearrangements that vary by histologic subtype. Recent developments in next-generation sequencing (NGS) technology enable simultaneous analysis of cancer-associated genes of interest, thus improving diagnostic accuracy and allowing precise personalized treatment for human cancer. A total of 50 patients who underwent thyroidectomy between 2014 and 2016 at Hokuto Hospital were enrolled. Read More

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December 2018

Differential expression of PMCA2 mRNA isoforms in a cohort of Spanish patients with breast tumor types.

Oncol Lett 2018 Dec 2;16(6):6950-6959. Epub 2018 Oct 2.

Department of Basic Biomedical Sciences, Faculty of Biomedical and Health Sciences, Universidad Europea de Madrid, Villaviciosa de Odón, Madrid 28670, Spain.

The present study examined the mRNA expression levels of different isoforms of the plasma membrane calcium ATPase 2 (PMCA2) gene generated by alternative splicing at the first intracellular loop (site A) and C-terminal region (site C) in 85 human breast cancer tumor and 69 adjacent non-tumor tissues. Associations were identified between the expression of PMCA2 splice isoforms and the following clinical variables: Estrogen receptor (ER), progesterone receptor (PR) and human epidermal growth factor receptor 2 (HER2) status, tumor size, staging and histological classification, and lymph node status. Transcripts including splice site A or splice site C were amplified by reverse transcription-quantitative polymerase chain reaction using PMCA2 isoform-specific primers. Read More

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December 2018
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Functional changes of airway epithelial cells and mitochondria in rat models of asthenic lung and phlegm blocking combined with cough variant asthma.

Exp Ther Med 2018 Dec 15;16(6):5021-5024. Epub 2018 Oct 15.

Pneumology Department, The Affiliated Traditional Medical Hospital of Xinjiang Medical University, Urumqi, Xinjiang 830000, P.R. China.

The aim of this study was to investigated the functional changes of airway epithelial cells and mitochondria in rat models of asthenic lung and phlegm blocking combined with cough variant asthma (CVA). Sixteen Sprague-Dawley rats were randomly divided into two groups: Control and model group, with 8 rats in each group. On the basis of the CVA rat model induced and sensitized by ovalbumin and aluminum hydroxide, the rat models with asthenic lung and phlegm blocking combined with CVA were established via smoking stimulation. Read More

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December 2018
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Dysregulated microRNA expression profiles in gastric cancer cells with high peritoneal metastatic potential.

Exp Ther Med 2018 Dec 19;16(6):4602-4608. Epub 2018 Sep 19.

Department of Gastroenterology, Xijing Hospital of Digestive Diseases, State Key Laboratory of Cancer Biology and Institute of Digestive Diseases, Xi'an, Shaanxi 710000, P.R. China.

Despite significant developments in its clinical treatment, the reported incidence and mortality of gastric cancer have exhibited marked increases. The molecular mechanisms of gastric cancer initiation and progression remain to be fully elucidated. The aim of the present study was to identify novel microRNAs (miRNAs/miRs) with a role in the peritoneal metastasis of gastric cancer by comparing the miRNA expression in the gastric cancer cell line GC9811 with that in its variant GC9811-P, a sub-cell line with a high potential for peritoneal metastasis. Read More

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December 2018