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https://www.readbyqxmd.com/read/28339885/alcohol-related-hospitalization-is-associated-with-increased-risk-of-ischaemic-stroke-among-low-risk-patients-with-atrial-fibrillation
#1
Faris Al-Khalili, Lina Benson, Leif Friberg
Aims: Patients with atrial fibrillation (AF) under the age of 65 and CHA2DS2-VASc risk score of 0 in men or 1 in women are considered to be at low risk for ischaemic stroke, and therefore without benefit of oral anticoagulation therapy. The objective of this study is to assess the incidence and predictors of ischaemic stroke among low-risk patients with AF identified from a National Patient Register. Methods and results: A retrospective study of 25 252 low-risk AF patients (age 18-64) out of total 345 123 AF patients identified from the Swedish Nationwide Patient Register for the period 1 January 2006 to 31 December 2012...
February 23, 2017: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/28339729/how-to-monitor-safety-and-efficacy-of-biologic-treatment-in-rare-therapy-refractory-immune-mediated-inflammatory-diseases-making-the-right-clinical-decisions-for-rare-diseases-with-the-right-tools
#2
https://www.readbyqxmd.com/read/28339631/evidence-for-the-involvement-of-the-proximal-copy-of-the-magea9-gene-in-xq28-linked-cnv67-specific-to-spermatogenic-failure%C3%A2
#3
Ying Shen, Jinyan Xu, Xiling Yang, Yunqiang Liu, Yongyi Ma, Dong Yang, Qiang Dong, Yuan Yang
Spermatogenic failure characterized by impaired sperm production is a common multifactorial disease with molecular and cytogenetic causes for its extreme phenotype that include azoospermia and severe oliogzoospermia. Recently, a high-resolution array-comparative genomic hybridization analysis of the X chromosome and a subsequent cohort study revealed three X-linked microdeletions (CNV64, CNV67, and CNV69) that were associated with decreased sperm production in a mixed group that included Spanish and Italian males...
February 7, 2017: Biology of Reproduction
https://www.readbyqxmd.com/read/28339535/fungemia-due-to-rare-opportunistic-yeasts-data-from-a-population-based-surveillance-in-spain
#4
Mario Fernández-Ruiz, Jesús Guinea, Mireia Puig-Asensio, Óscar Zaragoza, Benito Almirante, Manuel Cuenca-Estrella, José María Aguado
Fungemia due to rare yeasts constitutes an emerging but poorly investigated condition. Data on risk factors, clinical features, therapy, and outcome of episodes of fungemia due to rare (non-Candida, non-Cryptococcus) yeasts were analyzed in a population-based surveillance program conducted in 29 Spanish hospitals between May 2010 and April 2011. Species identification (DNA sequencing) and antifungal susceptibility testing (EUCAST and CLSI methods) were centrally performed. Fourteen out of 767 episodes of fungemia (1...
August 5, 2016: Medical Mycology: Official Publication of the International Society for Human and Animal Mycology
https://www.readbyqxmd.com/read/28339516/improving-a-full-text-search-engine-the-importance-of-negation-detection-and-family-history-context-to-identify-cases-in-a-biomedical-data-warehouse
#5
Nicolas Garcelon, Antoine Neuraz, Vincent Benoit, Rémi Salomon, Anita Burgun
Objective: The repurposing of electronic health records (EHRs) can improve clinical and genetic research for rare diseases. However, significant information in rare disease EHRs is embedded in the narrative reports, which contain many negated clinical signs and family medical history. This paper presents a method to detect family history and negation in narrative reports and evaluates its impact on selecting populations from a clinical data warehouse (CDW). Materials and Methods: We developed a pipeline to process 1...
October 20, 2016: Journal of the American Medical Informatics Association: JAMIA
https://www.readbyqxmd.com/read/28339472/vector-status-of-aedes-species-determines-geographical-risk-of-autochthonous-zika-virus-establishment
#6
Lauren Gardner, Nan Chen, Sahotra Sarkar
BACKGROUND: The 2015-16 Zika virus pandemic originating in Latin America led to predictions of a catastrophic global spread of the disease. Since the current outbreak began in Brazil in May 2015 local transmission of Zika has been reported in over 60 countries and territories, with over 750 thousand confirmed and suspected cases. As a result of its range expansion attention has focused on possible modes of transmission, of which the arthropod vector-based disease spread cycle involving Aedes species is believed to be the most important...
March 24, 2017: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/28335519/translating-developmental-origins-improving-the-health-of-women-and-their-children-using-a-sustainable-approach-to-behaviour-change
#7
Mary Barker, Janis Baird, Tannaze Tinati, Christina Vogel, Sofia Strömmer, Taylor Rose, Rufia Begum, Megan Jarman, Jenny Davies, Sue Thompson, Liz Taylor, Hazel Inskip, Cyrus Cooper, Don Nutbeam, Wendy Lawrence
Theories of the developmental origins of health and disease imply that optimising the growth and development of babies is an essential route to improving the health of populations. A key factor in the growth of babies is the nutritional status of their mothers. Since women from more disadvantaged backgrounds have poorer quality diets and the worst pregnancy outcomes, they need to be a particular focus. The behavioural sciences have made a substantial contribution to the development of interventions to support dietary changes in disadvantaged women...
March 20, 2017: Healthcare (Basel, Switzerland)
https://www.readbyqxmd.com/read/28335042/acute-sensory-neuronopathy-following-enterovirus-infection-in-a-3-year-old-girl
#8
Chih-Chin Chiu, Chen-Ya Yang, Tsui-Fen Yang, Kon-Ping Lin, Shou-Hsien Huang, Jia-Chi Wang
Acute sensory neuronopathy (SNN) is a rapidly developing peripheral nervous system disease that primarily affects sensory neurons in the dorsal root ganglion or trigeminal ganglion, leading to the impairment of sensory axons. SNN is notably uncommon in childhood; only three cases of childhood or adolescent SNN have been reported to date. Moreover, SSN has never been reported in association with enterovirus infection. Here, we report the case of a 3-year-old girl who was initially diagnosed with enterovirus infection based on the presentation of fevers, rashes on all extremities, and ulceration over the posterior pharynx...
March 23, 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28335037/lrsam1-mediated-ubiquitylation-is-disrupted-in-axonal-charcot-marie-tooth-disease-2p
#9
Johanna E Hakonen, Vincenzo Sorrentino, Rossella Avagliano Trezza, Marit B de Wissel, Marlene van den Berg, Boris Bleijlevens, Fred van Ruissen, Ben Distel, Frank Baas, Noam Zelcer, Marian A J Weterman
Charcot-Marie-Tooth (CMT) disease type 2 is a genetically heterogeneous group of inherited neuropathies characterized by motor and sensory deficits as a result of peripheral axonal degeneration. We recently reported a frameshift mutation in the RING domain of LRSAM1 (c.2121_2122dup, p.Leu708Argfs) that encodes an E3 ubiquitin ligase, as the cause of axonal type CMT (CMT2P). However, the frequency of LRSAM1 mutations in CMT2 and the functional basis for their association with disease remains unknown. In this study we evaluated LRSAM1 mutations in two large Dutch cohorts...
March 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28334964/mutations-in-the-leukemia-inhibitory-factor-receptor-lifr-gene-and-lifr-deficiency-cause-urinary-tract-malformations
#10
Anne Kosfeld, Frank Brand, Anna-Carina Weiss, Martin Kreuzer, Michaela Goerk, Helge Martens, Stephanie Schubert, Anne-Kathrin Schäfer, Vera Riehmer, Imke Hennies, Jan Hinrich Bräsen, Lars Pape, Kerstin Amann, Lars Krogvold, Anna Bjerre, Christoph Daniel, Andreas Kispert, Dieter Haffner, Ruthild G Weber
Congenital anomalies of the kidneys and urinary tract (CAKUT) are the most common cause of chronic kidney disease in children. As CAKUT is a genetically heterogeneous disorder and most cases are genetically unexplained, we aimed to identify new CAKUT causing genes. Using whole-exome sequencing and trio-based de novo analysis, we identified a novel heterozygous de novo frameshift variant in the leukemia inhibitory factor receptor (LIFR) gene causing instability of the mRNA in a patient presenting with bilateral CAKUT and requiring kidney transplantation at one year of age...
March 8, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28334938/clinical-and-genetic-characterization-of-leukoencephalopathies-in-adults
#11
David S Lynch, Anderson Rodrigues Brandão de Paiva, Wei Jia Zhang, Enrico Bugiardini, Fernando Freua, Leandro Tavares Lucato, Lucia Inês Macedo-Souza, Rahul Lakshmanan, Justin A Kinsella, Aine Merwick, Alexander M Rossor, Nin Bajaj, Brian Herron, Paul McMonagle, Patrick J Morrison, Deborah Hughes, Alan Pittman, Matilde Laurà, Mary M Reilly, Jason D Warren, Catherine J Mummery, Jonathan M Schott, Matthew Adams, Nick C Fox, Elaine Murphy, Indran Davagnanam, Fernando Kok, Jeremy Chataway, Henry Houlden
Leukodystrophies and genetic leukoencephalopathies are a rare group of disorders leading to progressive degeneration of cerebral white matter. They are associated with a spectrum of clinical phenotypes dominated by dementia, psychiatric changes, movement disorders and upper motor neuron signs. Mutations in at least 60 genes can lead to leukoencephalopathy with often overlapping clinical and radiological presentations. For these reasons, patients with genetic leukoencephalopathies often endure a long diagnostic odyssey before receiving a definitive diagnosis or may receive no diagnosis at all...
March 2, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28334849/icf-specific-dnmt3b-dysfunction-interferes-with-intragenic-regulation-of-mrna-transcription-and-alternative-splicing
#12
Sole Gatto, Miriam Gagliardi, Monica Franzese, Sylwia Leppert, Mariarosaria Papa, Marco Cammisa, Giacomo Grillo, Guillame Velasco, Claire Francastel, Shir Toubiana, Maurizio D'Esposito, Claudia Angelini, Maria R Matarazzo
Hypomorphic mutations in DNA-methyltransferase DNMT3B cause majority of the rare disorder Immunodeficiency, Centromere instability and Facial anomalies syndrome cases (ICF1). By unspecified mechanisms, mutant-DNMT3B interferes with lymphoid-specific pathways resulting in immune response defects. Interestingly, recent findings report that DNMT3B shapes intragenic CpG-methylation of highly-transcribed genes. However, how the DNMT3B-dependent epigenetic network modulates transcription and whether ICF1-specific mutations impair this process remains unknown...
March 9, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28334845/infantile-tremor-syndrome-and-subdural-hemorrhage-in-an-infant-with-cystic-fibrosis
#13
Anirban Mandal, Mayank Priyadarshi, Kanaram Jat, Sushil Kumar Kabra
Cystic fibrosis (CF), an autosomal recessive disease with multi-system involvement, may present with bleeding in infancy owing to vitamin K malabsorption. Infantile tremor syndrome (ITS) is an obscure condition associated with vitamin B12 and other micronutrient deficiencies, described predominantly in Indian subcontinent. We describe an infant presenting with ITS and chronic subdural hemorrhage. He was subsequently diagnosed to have CF. The ITS and subdural hemorrhage is rarely reported in children with CF...
February 23, 2017: Journal of Tropical Pediatrics
https://www.readbyqxmd.com/read/28334843/a152t-tau-allele-causes-neurodegeneration-that-can-be-ameliorated-in-a-zebrafish-model-by-autophagy-induction
#14
Ana Lopez, Suzee E Lee, Kevin Wojta, Eliana Marisa Ramos, Eric Klein, Jason Chen, Adam L Boxer, Maria Luisa Gorno-Tempini, Daniel H Geschwind, Lars Schlotawa, Nikolay V Ogryzko, Eileen H Bigio, Emily Rogalski, Sandra Weintraub, Marsel M Mesulam, Angeleen Fleming, Giovanni Coppola, Bruce L Miller, David C Rubinsztein
Mutations in the gene encoding tau (MAPT) cause frontotemporal dementia spectrum disorders. A rare tau variant p.A152T was reported as a risk factor for frontotemporal dementia spectrum and Alzheimer's disease in an initial case-control study. Such findings need replication in an independent cohort. We analysed an independent multinational cohort comprising 3100 patients with neurodegenerative disease and 4351 healthy control subjects and found p.A152T associated with significantly higher risk for clinically defined frontotemporal dementia and progressive supranuclear palsy syndrome...
February 9, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28334718/sex-differences-do-not-exist-in-outcomes-among-stroke-patients-with-intracranial-atherosclerosis-in-china-subgroup-analysis-from-the-chinese-intracranial-atherosclerosis-study
#15
Yuehua Pu, Na Wei, Dandan Yu, Yilong Wang, Xinying Zou, Yannie O Y Soo, Yuesong Pan, Thomas W H Leung, Lawrence K S Wong, Yongjun Wang, Liping Liu
BACKGROUND: To date, sex difference in outcomes among patients with intracranial atherosclerosis (ICAS) has rarely been discussed in China as well as in the world. This study aimed to estimate the sex difference in outcomes among patients with ICAS in Chinese cerebral ischemia patients. METHODS: We analyzed 1,335 men and women with ICAS who were enrolled in the Chinese Intracranial Atherosclerosis study. They were followed-up for ischemic stroke recurrence, any cause of death, cerebral vascular events (including transient ischemic attack, ischemic and hemorrhagic stroke), combined end points (including cerebral vascular events, angina or myocardial infarction, pulmonary embolism, peripheral vascular events), and unfavorable outcome (modified Rankin scale score of 3-6) at 1 year...
March 24, 2017: Neuroepidemiology
https://www.readbyqxmd.com/read/28334546/-parathyroid-cancer
#16
Ivana Ságová, Matej Stančík, Peter Kentoš, Dušan Pavai, Daniela Kantárová, Anton Vaňuga, Peter Vaňuga
Parathyroid cancer is a rare endocrine malignancy, representing less than 1 % of all cases of primary hyperparathyroidism. The exact etiology of the disease remains unknown. Known risk factors include neck irradiation, end stage renal failure, genetic factors, particularly the the HPRT2/CDCT73 gene mutation. The clinical picture is often indolent, yet progressive with a trend of local invasion and metastasis formation in advanced disease. The clinical picture includes symptoms of severe and resistant hypercalcemia, requiring intensive therapy often with the need of dialysis...
2017: Vnitr̆ní Lékar̆ství
https://www.readbyqxmd.com/read/28334425/risk-reducing-salpingectomy-let-us-be-opportunistic
#17
REVIEW
Kara C Long Roche, Nadeem R Abu-Rustum, Mlica Nourmoussavi, Oliver Zivanovic
Because there is no screening test for ovarian cancer, effective prevention strategies may be the best way to reduce the mortality of this most lethal gynecologic malignancy. Increasing evidence supports the hypothesis that the fallopian tube is the site of origin for the vast majority of high-grade serous carcinomas. Our growing understanding of the pathogenesis of this disease offers a rare opportunity to explore new preventive measures, such as bilateral salpingectomy, which may provide great benefit without compromising ovarian function...
March 23, 2017: Cancer
https://www.readbyqxmd.com/read/28334342/tagging-snp-set-selection-with-maximum-information-based-on-linkage-disequilibrium-structure-in-genome-wide-association-studies
#18
Shudong Wang, Sicheng He, Fayou Yuan, Xinjie Zhu
Motivation: Effective tagging single-nucleotide polymorphism (SNP)-set selection is crucial to SNP-set analysis in genome-wide association studies (GWAS). Most of the existing tagging SNP-set selection methods cannot make full use of the information hidden in common or rare variants associated diseases. It is noticed that some SNPs have overlapping genetic information owing to linkage disequilibrium (LD) structure between SNPs. Therefore, when testing the association between SNPs and disease susceptibility, it is sufficient to elect the representative SNPs (called tag SNP-set or tagSNP-set) with maximum information...
March 16, 2017: Bioinformatics
https://www.readbyqxmd.com/read/28334324/understanding-the-genetic-landscape-of-small-cell-carcinoma-of-the-urinary-bladder-and-implications-for-diagnosis-prognosis-and-treatment-a-review
#19
Erik J Kouba, Liang Cheng
Importance: Small cell carcinoma of the urinary bladder is a rare and aggressive neuroendocrine tumor of the urinary bladder. Although research has been performed since the first case was reported in 1981, most of our understanding of the disease treatments has been extrapolated from small cell carcinoma of the lung. However, current data on patient survival have been stagnant. Observations: With the advent of advanced molecular diagnostic methods, a new potential for understanding the origin and treatment of small cell carcinoma of the urinary bladder has become evident...
March 23, 2017: JAMA Oncology
https://www.readbyqxmd.com/read/28334266/phenopolis-an-open-platform-for-harmonization-and-analysis-of-genetic-and-phenotypic-data
#20
Nikolas Pontikos, Jing Yu, Ismail Moghul, Lucy Withington, Fiona Blanco-Kelly, Tom Vulliamy, Tsz Lun Wong, Cian Murphy, Valentina Cipriani, Alessia Fiorentino, Gavin Arno, Daniel Greene, Julius Ob Jacobsen, Tristan Clark, David S Gregory, Andrea Nemeth, Stephanie Halford, Chris F Inglehearn, Susan Downes, Graeme C Black, Andrew R Webster, Alison J Hardcastle, Vincent Plagnol
Summary: Phenopolis is an open-source web server providing an intuitive interface to genetic and phenotypic databases. It integrates analysis tools such as variant filtering and gene prioritisation based on phenotype. The Phenopolis platform will accelerate clinical diagnosis, gene discovery and encourage wider adoption of the Human Phenotype Ontology in the study of rare genetic diseases. Availability and Implementation: A demo of the website is available at https://phenopolis...
March 15, 2017: Bioinformatics
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