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https://www.readbyqxmd.com/read/29777908/breast-cancer-in-the-gcc-countries-a-focus-on-brca1-2-and-non-brca1-2-genes
#1
REVIEW
Sumaya Rahman, Hatem Zayed
The GCC is an economic alliance of six Arab countries, including Bahrain, Kuwait, Oman, Qatar, Saudi Arabia, and United Arab Emirates (UAE). The rate of endogamous marriage among the GCC countries is approaching 100%, with very high consanguineous marriage rates. Although breast cancer is on the rise in the GCC countries, there are dearth of studies reporting on the genetic epidemiology of breast cancer. In this study, we investigated the frequency of BRCA1/2 and non-BRCA1/2 mutations in breast cancer patients in the GCC countries...
May 16, 2018: Gene
https://www.readbyqxmd.com/read/29775803/assisted-reproductive-technologies-and-imprinting-disorders-results-of-a-study-from-a-french-congenital-malformations-registry
#2
Audrey Uk, Sophie Collardeau-Frachon, Quentin Scanvion, Lucas Michon, Emmanuelle Amar
INTRODUCTION: Assisted Reproductive Technologies (ART) is increasingly used to help infertile couples to have children around the world. A number of studies have been published reporting an increased risk of major malformations in children born following ART, especially an increased incidence of epigenetic diseases (ED). This study aimed to assess the incidence of epigenetic diseases with affected imprinting genes in infants or children from pregnancies obtained through IVF/ICSI compared to infants or children from pregnancies obtained spontaneously...
May 15, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29774989/first-report-of-wild-boar-susceptibility-to-porcine-circovirus-type-3-high-prevalence-in-the-colli-euganei-regional-park-italy-in-the-absence-of-clinical-signs
#3
Giovanni Franzo, Claudia Maria Tucciarone, Michele Drigo, Mattia Cecchinato, Marco Martini, Alessandra Mondin, Maria Luisa Menandro
The genus Circovirus includes one of the most relevant infectious agents affecting domestic pigs, Porcine circovirus type 2 (PCV-2). The wild boar susceptibility to this pathogen has also been demonstrated although the actual epidemiological role of wild populations is still debated. In recent times, a new circovirus, Porcine circovirus type 3 (PCV-3), has been discovered and reported in the presence of several clinical conditions. However, no information is currently available about PCV-3 circulation and prevalence in wild boar...
May 18, 2018: Transboundary and Emerging Diseases
https://www.readbyqxmd.com/read/29774869/genetic-epidemiology-and-risk-factors-for-brain-tumors
#4
Xuejun Li, Hang Cao, Yanhong Liu
This report summarized current knowledge and findings relevant to environmental and genetic risk factors in brain tumors, with a particular focus on glioma. To date, the established risk factors for brain tumors are family history and ionizing radiation exposure; whereas there is an inverse association between tumors and other factors such as history of allergies, atopic conditions, chickenpox, and varicella zoster virus infection. To identify inherited genetic variants impacting susceptibility of brain tumors, large scale familial linkage-scan pedigree analysis, population-based candidate genes, and genome-wide association study were performed...
April 28, 2018: Zhong Nan da Xue Xue Bao. Yi Xue Ban, Journal of Central South University. Medical Sciences
https://www.readbyqxmd.com/read/29774858/genomic-epidemiology-of-global-carbapenemase-producing-enterobacter-spp-2008-2014
#5
Gisele Peirano, Yasufumi Matsumura, Mark D Adams, Patricia Bradford, Mary Motyl, Liang Chen, Barry N Kreiswirth, Johann D D Pitout
We performed whole-genome sequencing on 170 clinical carbapenemase-producing Enterobacter spp. isolates collected globally during 2008-2014. The most common carbapenemase was VIM, followed by New Delhi metallo-β-lactamase (NDM), Klebsiella pneumoniae carbapenemase, oxacillin 48, and IMP. The isolates were of predominantly 2 species (E. xiangfangensis and E. hormaechei subsp. steigerwaltii) and 4 global clones (sequence type [ST] 114, ST93, ST90, and ST78) with different clades within ST114 and ST90. Particular genetic structures surrounding carbapenemase genes were circulating locally in various institutions within the same or between different STs in Greece, Guatemala, Italy, Spain, Serbia, and Vietnam...
June 2018: Emerging Infectious Diseases
https://www.readbyqxmd.com/read/29774288/molecular-analysis-of-giardia-duodenalis-isolates-from-symptomatic-and-asymptomatic-children-from-la-habana-cuba
#6
Luis Enrique Jerez Puebla, Fidel A Núñez, Lissette Pérez Santos, Lázara Rojas Rivero, Isabel Martínez Silva, Lucía Ayllón Valdés, Iraís Atencio Millán, Norbert Müller
Giardiasis is considered the most common intestinal parasitic disease in humans worldwide. In Cuba, this infection has particularly a strong clinical impact on the child population. Giardia duodenalis is a highly diverse protozoan, which comprises a complex of eight morphologically identical genetic assemblages, further divided into sub-assemblages. The present study used triose phosphate isomerase ( tpi ) and small-subunit ribosomal RNA (SSU rRNA) genes as genetic markers for the identification of G. duodenalis assemblages and sub-assemblages in correlation with clinical and epidemiological data in children attended at the Paediatric Hospital "William Soler" and at Pedro Kouri Institute, between 2015 and 2016...
August 2017: Parasite Epidemiology and Control
https://www.readbyqxmd.com/read/29774212/alkaline-peptone-water-based-enrichment-method-for-mcr-3-from-acute-diarrheic-outpatient-gut-samples
#7
Qiaoling Sun, Yanyan Hu, Hongwei Zhou, Lingbin Shu, Hanyu Wang, Zixian Huang, Rong Zhang
A third plasmid-mediated colistin resistance gene, mcr-3 , is increasingly being reported in Enterobacteriaceae and Aeromonas spp. from animals and humans. To investigate the molecular epidemiology of mcr in the gut flora of Chinese outpatients, 152 stool specimens were randomly collected from outpatients in our hospital from May to June, 2017. Stool specimens enriched in alkaline peptone water or Luria-Bertani (LB) broth were screened for mcr-1, mcr-2 , and mcr-3 using polymerase chain reaction (PCR)-based assays...
2018: Frontiers in Medicine
https://www.readbyqxmd.com/read/29774138/clinical-evaluation-of-morgellons-disease-in-a-cohort-of-north-american-patients
#8
Melissa C Fesler, Marianne J Middelveen, Raphael B Stricker
Morgellons disease (MD) is a dermatological condition characterized by aberrant production of keratin and collagen fibers in skin. Although infection with Borrelia burgdorferi , the causative agent of Lyme disease (LD), has been associated with MD, relatively few studies have hitherto provided epidemiological evidence regarding this association. A cohort of 1000 seropositive North American LD patients was evaluated for the presence of MD. Patients were diagnosed with MD based on detection of microscopic fibers in skin lesions or under unbroken skin...
April 23, 2018: Dermatology Reports
https://www.readbyqxmd.com/read/29773774/us-and-cuban-scientists-forge-collaboration-on-arbovirus-research
#9
Jorge Pérez-Ávila, Maria G Guzmán-Tirado, Jorge Fraga-Nodarse, Gray Handley, James Meegan, Jose L Pelegrino-Martínez de la Cotera, Anthony S Fauci
After December 17, 2014, when the US and Cuban governments announced their intent to restore relations, the two countries participated in various exchange activities in an effort to encourage cooperation in public health, health research and biomedical sciences. The conference entitled Exploring Opportunities for Arbovirus Research Collaboration, hosted at Havana's Hotel Nacional, was part of these efforts and was the first major US-Cuban scientific conference in over 50 years. Its purpose was to share information about current arbovirus research and recent findings, and to explore opportunities for future joint research...
April 2018: MEDICC Review
https://www.readbyqxmd.com/read/29772561/thyroid-cancer-phenotypes-in-relation-to-inflammation-and-autoimmunity
#10
Loredana Pagano, Chiara Mele, Maria Teresa Sama, Marco Zavattaro, Marina Caputo, Lucrezia De Marchi, Samuele Paggi, Flavia Prodam, Gianluca Aimaretti, Paolo Marzullo
Thyroid cancer represents the most frequent endocrine neoplasm and is epidemiologically linked to a growing incidence worldwide, which is only in part explained by the increased detection of small cancers in a preclinical stage. Understanding the molecular pathogenesis of well-differentiated thyroid cancers and poorly-differentiated thyroid cancers has prompted interest into the identification of crucial signaling pathways and molecular derangements related to genetic and epigenetic alterations. Increasing attention has been recently focused on inflammation and immunity as major culprit mechanisms involved in thyroid tumourigenesis, through the detection of activated immune cells, pro-inflammatory cytokines, as well as signal integrations between inflammatory and proliferative pathways within the thyroid tumour micro-environment...
June 1, 2018: Frontiers in Bioscience (Landmark Edition)
https://www.readbyqxmd.com/read/29772546/gpcr-autoantibodies-in-chronic-heart-failure
#11
Valerie Boivin-Jahns, Roland Jahns
Chronic heart failure (CHF) is a syndrome characterized by shortness of breath, fluid retention, and a progressive reduction in cardiac function. More than 60% of the cases are ischemic in origin (i.e., due to myo-cardial infarction) and about 30% are caused by non-ischemic myocardial damage (i.e., due to genetic or non-genetic causes like myocardial inflammation). Because of alterations in both cellular and humoral immunity patients with non-ischemic CHF often develop abnormal or misled immune responses, including cross-reacting antibodies and/or autoantibodies to various cardiac anti-gens...
June 1, 2018: Frontiers in Bioscience (Landmark Edition)
https://www.readbyqxmd.com/read/29772398/molecular-epidemiology-and-characterization-of-picobirnaviruses-in-small-ruminant-populations-in-india
#12
Yashpal Singh Malik, Shubhankar Sircar, Kuldeep Dhama, Rashmi Singh, Souvik Ghosh, Krisztián Bányai, Anastasia N Vlasova, Touil Nadia, Raj Kumar Singh
Picobirnavirus (PBV) is recognized as a putative cause of diarrhea and respiratory illnesses. Although PBV has been reported in several mammalian (including humans) and avian host species, data pertaining to its presence in small ruminants are limited. We report, here, PBV infection in small ruminants (ovine and caprine), in India. From January 2015 to December 2017, 400 samples were tested for the presence of PBV, using an RT-PCR assay specific for the genome segment-2. The overall rate of PBV infection was 35...
May 14, 2018: Infection, Genetics and Evolution
https://www.readbyqxmd.com/read/29771992/first-description-of-echinococcus-ortleppi-and-cystic-echinococcosis-infection-status-in-chile
#13
Felipe Corrêa, Caroll Stoore, Pamina Horlacher, Mauricio Jiménez, Christian Hidalgo, Cristian A Alvarez Rojas, Guilherme Figueiredo Barros, Henrique Bunselmeyer Ferreira, Marcela Hernández, Gonzalo Cabrera, Rodolfo Paredes
Cystic echinococcosis (CE), a parasitic disease caused by the cestode Echinococcus granulosus sensu lato (s.l.), is a worldwide zoonotic infection. Although endemic in Chile, information on the molecular characteristics of CE in livestock remains scarce. Therefore we aimed to describe the status of infection with E. granulosus s.l. in cattle from central Chile and also to contribute to the study of the molecular epidemiology of this parasite. According to our results, the prevalence of CE is 18.84% in cattle, similar to previous reports from Chile, suggesting that the prevalence in Santiago Metropolitan area has not changed in the last 30 years...
2018: PloS One
https://www.readbyqxmd.com/read/29770205/beginning-at-the-ends-telomeres-and-human-disease
#14
REVIEW
Sharon A Savage
Studies of rare and common illnesses have led to remarkable progress in the understanding of the role of telomeres (nucleoprotein complexes at chromosome ends essential for chromosomal integrity) in human disease. Telomere biology disorders encompass a growing spectrum of conditions caused by rare pathogenic germline variants in genes encoding essential aspects of telomere function. Dyskeratosis congenita, a disorder at the severe end of this spectrum, typically presents in childhood with the classic triad of abnormal skin pigmentation, nail dystrophy, and oral leukoplakia, accompanied by a very high risk of bone marrow failure, cancer, pulmonary fibrosis, and other medical problems...
2018: F1000Research
https://www.readbyqxmd.com/read/29769239/hypertriglyceridemia-and-cardiovascular-risk-a-cautionary-note-about-metabolic-confounding
#15
Allan D Sniderman, Patrick Couture, Seth B Martin, Jacqueline DeGraaf, Patrick R Lawler, William C Cromwell, John T Wilkins, George Thanassoulis
Triglycerides are the conventional tool to measure very low-density lipoproteins (VLDL) whereas low-density lipoprotein cholesterol (LDL-C) is the conventional tool to measure low-density lipoproteins (LDL). Multiple epidemiological studies, including a series of genetically based analyses, have demonstrated cardiovascular risk is related to triglycerides independently of LDL-C and this has led to a series of new therapeutic agents designed specifically to reduce plasma triglycerides. The triglyceride hypothesis posits that increased levels of triglycerides increase cardiovascular risk and decreasing plasma triglycerides decreases cardiovascular risk...
May 16, 2018: Journal of Lipid Research
https://www.readbyqxmd.com/read/29768563/occurrence-of-blastocystis-spp-in-domestic-animals-in-tri%C3%A3-ngulo-mineiro-area-of-brazil
#16
Renata Gregório Franco Moura, Márcia Benedita de Oliveira-Silva, André Luiz Pedrosa, Gabriel Antônio Nogueira Nascentes, Marlene Cabrine-Santos
INTRODUCTION: Currently, there are few studies regarding Blastocystis epidemiology. This study aimed to evaluate the occurrence of Blastocystis in animals in Uberaba, Brazil. METHODS: Fecal samples were examined by parasitological methods and screened for Blastocystis by polymerase chain reaction. RESULTS: Blastocystis spp. were observed in pigs, sheep, cattle, and dogs. Blastocystis polymerase chain reaction was positive in 14/22 samples positive by parasitological methods...
March 2018: Revista da Sociedade Brasileira de Medicina Tropical
https://www.readbyqxmd.com/read/29765245/the-epidemiology-of-outpatient-pain-treatment-in-pediatrics
#17
Stacy Baldridge, Laura Wallace, Aditi Kadakia
Background: There is limited real-world, population-level data on the prevalence and treatment of pain in children. An understanding of pediatric pain conditions and its management can help inform provider education, treatment guidelines, and design of pediatric pain studies. Therefore, in this study, we aimed to describe the prevalence of conditions associated with acute and chronic pain in pediatric patients and to characterize pediatric pain treatment with nonsteroidal anti-inflammatory drugs, cyclooxygenase-2 (COX-2) inhibitors, opioids (immediate release or extended release), antidepressants, topical analgesics, anticonvulsants, and other therapies based on a large, real-world sample...
2018: Journal of Pain Research
https://www.readbyqxmd.com/read/29764422/hmmibd-software-to-infer-pairwise-identity-by-descent-between-haploid-genotypes
#18
Stephen F Schaffner, Aimee R Taylor, Wesley Wong, Dyann F Wirth, Daniel E Neafsey
BACKGROUND: A number of recent malaria studies have used identity by descent (IBD) to study epidemiological processes relevant to malaria control. In this paper, a software package, hmmIBD, is introduced for estimating pairwise IBD between haploid genomes, such as those of the malaria parasite, sampled from one or two populations. Source code is freely available. METHODS: The performance of hmmIBD was verified using simulated data and benchmarked against an existing method for detecting IBD within populations...
May 15, 2018: Malaria Journal
https://www.readbyqxmd.com/read/29762380/clinical-characteristics-of-disaccharidase-deficiencies-among-children-undergoing-upper-endoscopy
#19
Stanley A Cohen, Hannah Oloyede, Benjamin D Gold, Aminu Mohammed, Heather E Elser
OBJECTIVES: The epidemiology and clinical significance of disaccharidase deficiencies have not been thoroughly characterized. Recent work suggests at least genetic sucrase-isomaltase deficiency is more prevalent than previously believed. Because lactase deficiency (LD) is well described, the present study focuses on the clinical characteristics of children with disaccharidase deficiencies determined by esophagogastroduodenoscopy. METHODS: Endoscopic records were reviewed from patients undergoing esophagogastroduodenoscopies with biopsies assayed for disaccharidase activity performed by 13 pediatric gastroenterologists during 5 years (2010-2014)...
June 2018: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/29762095/ct-based-visual-classification-of-emphysema-association-with-mortality-in-the-copdgene-study
#20
David A Lynch, Camille M Moore, Carla Wilson, Dipti Nevrekar, Theodore Jennermann, Stephen M Humphries, John H M Austin, Philippe A Grenier, Hans-Ulrich Kauczor, MeiLan K Han, Elizabeth A Regan, Barry J Make, Russell P Bowler, Terri H Beaty, Douglas Curran-Everett, John E Hokanson, Jeffrey L Curtis, Edwin K Silverman, James D Crapo
Purpose To determine whether visually assessed patterns of emphysema at CT might provide a simple assessment of mortality risk among cigarette smokers. Materials and Methods Of the first 4000 cigarette smokers consecutively enrolled between 2007 and 2011 in this COPDGene study, 3171 had data available for both visual emphysema CT scores and survival. Each CT scan was retrospectively visually scored by two analysts using the Fleischner Society classification system. Severity of emphysema was also evaluated quantitatively by using percentage lung volume occupied by low-attenuation areas (voxels with attenuation of -950 HU or less) (LAA-950)...
May 15, 2018: Radiology
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