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https://www.readbyqxmd.com/read/28302160/increased-genomic-burden-of-germline-copy-number-variants-is-associated-with-early-onset-breast-cancer-australian-breast-cancer-family-registry
#1
Logan C Walker, John F Pearson, George A R Wiggins, Graham G Giles, John L Hopper, Melissa C Southey
BACKGROUND: Women with breast cancer who have multiple affected relatives are more likely to have inherited genetic risk factors for the disease. All the currently known genetic risk factors for breast cancer account for less than half of the average familial risk. Furthermore, the genetic factor(s) underlying an increased cancer risk for many women from multiple-case families remain unknown. Rare genomic duplications and deletions, known as copy number variants (CNVs), cover more than 10% of a human genome, are often not assessed in studies of genetic predisposition, and could account for some of the so-called "missing heritability"...
March 16, 2017: Breast Cancer Research: BCR
https://www.readbyqxmd.com/read/28298901/unveiling-another-missing-piece-in-ebv-driven-lymphomagenesis-ebv-encoded-micrornas-expression-in-eber-negative-burkitt-lymphoma-cases
#2
Lucia Mundo, Maria R Ambrosio, Matteo Picciolini, Giuseppe Lo Bello, Sara Gazaneo, Leonardo Del Porro, Stefano Lazzi, Mohsen Navari, Noel Onyango, Massimo Granai, Cristiana Bellan, Giulia De Falco, Davide Gibellini, Pier P Piccaluga, Lorenzo Leoncini
Epstein-Barr virus (EBV) is a gammaherpesvirus linked to a number of lymphoid and epithelial malignancies, including Burkitt lymphoma (BL) in which its frequency ranges from 30% in sporadic cases to 100% in the endemic ones. The possible contribution of EBV to BL pathogenesis is largely unknown. It has been suggested that EBV may be associated with all of the cases, including those diagnosed as EBV negative by a mechanism of hit-and-run. Early during oncogenesis, viral genes are essential for initiating disease...
2017: Frontiers in Microbiology
https://www.readbyqxmd.com/read/28285241/neural-reactivity-to-reward-in-school-age-offspring-of-depressed-mothers
#3
Jillian Lee Wiggins, Karen T G Schwartz, Maria Kryza-Lacombe, Philip A Spechler, Sarah L Blankenship, Lea Dougherty
BACKGROUND: Identifying neural profiles predictive of future psychopathology in at-risk individuals is important to efficiently direct preventive care. Alterations in reward processing may be a risk factor for depression. The current study characterized neural substrates of reward processing in children at low- and high-risk for psychopathology due to maternal depression status. METHODS: Children with (n=27) and without (n=19) maternal depression (ages 5.9-9.6 years) performed a monetary incentive delay task in which they received rewards, if they successfully hit a target, or no reward regardless of performance, during fMRI acquisition...
March 7, 2017: Journal of Affective Disorders
https://www.readbyqxmd.com/read/28282543/sudden-cardiac-death-and-sarcoidosis-of-the-heart-in-a-young-patient
#4
Morgane Jotterand, Silke Grabherr, Johannes Alexandre Lobrinus, Katarzyna Michaud
Sarcoidosis is a granulomatous disease of unknown etiology affecting any organ, microscopically characterized by noncaseating granulomata. Cardiac involvement in sarcoidosis has been reported. It might be symptomatic or not and even revealed by sudden death. Heart conduction system is rarely investigated at autopsy, even in cases of sudden cardiac death. We present a case of a 32-year-old woman who died suddenly. The examination of the heart conduction system revealed a cardiac sarcoidosis that could explain the sudden death...
January 25, 2017: Cardiovascular Pathology: the Official Journal of the Society for Cardiovascular Pathology
https://www.readbyqxmd.com/read/28258270/oral-health-status-and-oral-health-related-quality-of-life-among-hospitalized-and-nonhospitalized-geriatric-patients
#5
Abdulaziz M AlBaker, Fahad F AlBaqami, Tariq M AlHarbi, Mohammad D AlAmri, Jagan K Baskaradoss
INTRODUCTION: The purpose of this study was to compare the oral health status and its effect on the oral health-related quality of life (OHRQoL) of hospitalized and nonhospitalized elderly patients in a single community. The null hypothesis for the study states that there is no difference in the oral health status and OHRQoL between hospitalized and nonhospitalized elderly patients. MATERIALS AND METHODS: This study was conducted at the King Khalid Hospital and College of Dentistry, King Saud University, Riyadh, Kingdom of Saudi Arabia...
March 1, 2017: Journal of Contemporary Dental Practice
https://www.readbyqxmd.com/read/28258138/quantifying-the-importance-of-the-rare-biosphere-for-microbial-community-response-to-organic-pollutants-in-a-freshwater-ecosystem
#6
Yuanqi Wang, Janet K Hatt, Despina Tsementzi, Luis M Rodriguez-R, Carlos A Ruiz-Pérez, Michael R Weigand, Heidi Kizer, Gina Maresca, Raj Krishnan, Rachel Poretsky, Jim C Spain, Konstantinos T Konstantinidis
A single liter of water contains hundreds, if not thousands, of bacterial and archaeal species, each of which typically makes up a very small fraction of the total microbial community (<0.1%), the so called "rare biosphere". How often, and via what mechanisms, e.g., clonal amplification vs. horizontal gene transfer, the rare taxa and genes contribute to microbial community response to environmental perturbations represent important, unanswered questions toward better understanding the value and modeling of microbial diversity...
March 3, 2017: Applied and Environmental Microbiology
https://www.readbyqxmd.com/read/28253206/invasive-therapies-for-primary-post-partum-haemorrhage-as-missed-opportunities-for-medical-prevention
#7
Gilles Kayem, Catherine Deneux-Tharaux
PURPOSE OF REVIEW: Examine the available results from population-based studies to test the hypothesis that differences between countries in medical practices for the management of labour, delivery and early bleeding may lead to a differential risk of post-partum haemorrhage (PPH)-related maternal morbidity and in the need for PPH-related invasive therapies. RECENT FINDINGS: International comparison of ratios of maternal mortality due to PPH shows significant differences between developed countries...
April 2017: Current Opinion in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28251458/lifetime-number-of-ovulatory-cycles-and-epithelial-ovarian-cancer-risk-in-african-american-women
#8
Lauren C Peres, Patricia G Moorman, Anthony J Alberg, Elisa V Bandera, Jill Barnholtz-Sloan, Melissa Bondy, Michele L Cote, Ellen Funkhouser, Edward S Peters, Ann G Schwartz, Paul D Terry, Sarah E Abbott, Fabian Camacho, Frances Wang, Joellen M Schildkraut
PURPOSE: Incessant ovulation has been consistently linked to epithelial ovarian cancer (EOC). Although reproductive characteristics differ substantially by race, the association between incessant ovulation and EOC has been evaluated only in populations of predominantly white women. In the present study, we examined the association between lifetime number of ovulatory cycles (LOCs) and EOC risk among African American (AA) women. METHODS: We used data from 534 cases and 722 controls enrolled in the African American Cancer Epidemiology Study...
March 2, 2017: Cancer Causes & Control: CCC
https://www.readbyqxmd.com/read/28250952/can-x-ray-constrained-hartree-fock-wavefunctions-retrieve-electron-correlation
#9
Alessandro Genoni, Leonardo H R Dos Santos, Benjamin Meyer, Piero Macchi
The X-ray constrained wavefunction (XC-WF) method proposed by Jayatilaka [Jayatilaka & Grimwood (2001) ▸, Acta Cryst. A57, 76-86] has attracted much attention because it represents a possible third way of theoretically studying the electronic structure of atoms and molecules, combining features of the more popular wavefunction- and DFT-based approaches. In its original formulation, the XC-WF technique extracts statistically plausible wavefunctions from experimental X-ray diffraction data of molecular crystals...
March 1, 2017: IUCrJ
https://www.readbyqxmd.com/read/28246146/psychometric-validation-of-the-coronary-revascularisation-outcome-questionnaire-croqv2-in-the-context-of-the-nhs-coronary-revascularisation-proms-pilot
#10
Sara Schroter, Rebecca Miles, Stephen Green, Mark Jackson
OBJECTIVES: The Coronary Revascularisation Outcome Questionnaire (CROQ) is a patient-reported outcome measure (PROM) for coronary artery bypass surgery (CABG) and percutaneous coronary intervention (PCI). We tested the psychometric properties of a modified version (CROQv2) when administered in a National Health Service (NHS)/Department of Health (DH) funded pilot of PROMs for coronary revascularisation. DESIGN: Psychometric validation study. SETTING: 11 English hospitals in the UK taking part in the NHS/DH funded pilot of PROMs for coronary revascularisation...
February 28, 2017: BMJ Open
https://www.readbyqxmd.com/read/28244549/relating-complexity-and-error-rates-of-ontology-concepts-more-complex-ncit-concepts-have-more-errors
#11
Hua Min, Ling Zheng, Yehoshua Perl, Michael Halper, Sherri De Coronado, Christopher Ochs
OBJECTIVES: Ontologies are knowledge structures that lend support to many health-information systems. A study is carried out to assess the quality of ontological concepts based on a measure of their complexity. The results show a relation between complexity of concepts and error rates of concepts. METHODS: A measure of lateral complexity defined as the number of exhibited role types is used to distinguish between more complex and simpler concepts. Using a framework called an area taxonomy, a kind of abstraction network that summarizes the structural organization of an ontology, concepts are divided into two groups along these lines...
February 28, 2017: Methods of Information in Medicine
https://www.readbyqxmd.com/read/28243536/eotaria-citrica-sp-nov-a-new-stem-otariid-from-the-topanga-formation-of-southern-california
#12
Jorge Velez-Juarbe
A new taxon of stem otariid, Eotaria citrica sp. nov., is described from the upper Burdigalian to lower Langhian "Topanga" formation of Orange County, California. The new species is described from mandibular and dental remains that show a unique combination of plesiomorphic and derived characters. Specifically, it is characterized by having trenchant and prominent paraconid cusps in p3-m1, lingual cingula of p2-4 with faint crenulations, premolars and molars with vestigial metaconid, bilobed root of m2 and a genial tuberosity located under p3...
2017: PeerJ
https://www.readbyqxmd.com/read/28240921/prevalence-and-alternative-explanations-influence-cancer-diagnosis-an-experimental-study-with-physicians
#13
Miroslav Sirota, Olga Kostopoulou, Thomas Round, Shyamalee Samaranayaka
OBJECTIVE: Cancer causes death to millions of people worldwide. Early detection of cancer in primary care may enhance patients' chances of survival. However, physicians often miss early cancers, which tend to present with undifferentiated symptoms. Within a theoretical framework of the hypothesis generation (HyGene) model, together with psychological literature, we studied how 2 factors-cancer prevalence and an alternative explanation for the patient's symptoms-impede early cancer detection, as well as prompt patient management...
February 27, 2017: Health Psychology: Official Journal of the Division of Health Psychology, American Psychological Association
https://www.readbyqxmd.com/read/28228521/clustered-brachiopod-hox-genes-are-not-expressed-collinearly-and-are-associated-with-lophotrochozoan-novelties
#14
Sabrina M Schiemann, José M Martín-Durán, Aina Børve, Bruno C Vellutini, Yale J Passamaneck, Andreas Hejnol
Temporal collinearity is often considered the main force preserving Hox gene clusters in animal genomes. Studies that combine genomic and gene expression data are scarce, however, particularly in invertebrates like the Lophotrochozoa. As a result, the temporal collinearity hypothesis is currently built on poorly supported foundations. Here we characterize the complement, cluster, and expression of Hox genes in two brachiopod species, Terebratalia transversa and Novocrania anomalaT. transversa has a split cluster with 10 genes (lab, pb, Hox3, Dfd, Scr, Lox5, Antp, Lox4, Post2, and Post1), whereas N...
March 7, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28224371/can-disproportionality-analysis-of-post-marketing-case-reports-be-used-for-comparison-of-drug-safety-profiles
#15
Christiane Michel, Emil Scosyrev, Michael Petrin, Robert Schmouder
Clinical trials usually do not have the power to detect rare adverse drug reactions. Spontaneous adverse reaction reports as for example available in post-marketing safety databases such as the FDA Adverse Event Reporting System (FAERS) are therefore a valuable source of information to detect new safety signals early. To screen such large data-volumes for safety signals, data-mining algorithms based on the concept of disproportionality have been developed. Because disproportionality analysis is based on spontaneous reports submitted for a large number of drugs and adverse event types, one might consider using these data to compare safety profiles across drugs...
February 21, 2017: Clinical Drug Investigation
https://www.readbyqxmd.com/read/28223422/a-potential-oligogenic-etiology-of-hypertrophic-cardiomyopathy-a-classic-single-gene-disorder
#16
Lili Li, Matthew N Bainbridge, Yanli Tan, James T Willerson, Ali J Marian
Rationale: Hypertrophic cardiomyopathy (HCM) is a prototypic single gene disease caused mainly by mutations in genes encoding sarcomere proteins. Despite the remarkable advances, the causal genes in about 40% of the HCM cases remain unknown, typically in small families and sporadic cases, wherein co-segregation could not be established. Objective: To test the hypothesis that the "missing causal genes" in HCM is, in part, because of an oligogenic etiology, wherein the pathogenic variants do not co-segregate with the phenotype...
February 21, 2017: Circulation Research
https://www.readbyqxmd.com/read/28222933/photogrammetric-3d-skull-photo-superimposition-a-pilot-study
#17
Valeria Santoro, Sergio Lubelli, Antonio De Donno, Alessio Inchingolo, Fulvio Lavecchia, Francesco Introna
The identification of bodies through the examination of skeletal remains holds a prominent place in the field of forensic investigations. Technological advancements in 3D facial acquisition techniques have led to the proposal of a new body identification technique that involves a combination of craniofacial superimposition and photogrammetry. The aim of this study was to test the method by superimposing various computerized 3D images of skulls onto various photographs of missing people taken while they were still alive in cases when there was a suspicion that the skulls in question belonged to them...
February 13, 2017: Forensic Science International
https://www.readbyqxmd.com/read/28222824/curiosity-killed-the-cat-no-evidence-of-an-association-between-cat-ownership-and-psychotic-symptoms-at-ages-13-and-18-years-in-a-uk-general-population-cohort
#18
F Solmi, J F Hayes, G Lewis, J B Kirkbride
BACKGROUND: Congenital or early life infection with Toxoplasma gondii has been implicated in schizophrenia aetiology. Childhood cat ownership has been hypothesized as an intermediary marker of T. gondii infection and, by proxy, as a risk factor for later psychosis. Evidence supporting this hypothesis is, however, limited. METHOD: We used birth cohort data from the Avon Longitudinal Study of Parents and Children (ALSPAC) to investigate whether cat ownership in pregnancy and childhood (ages 4 and 10 years) was associated with psychotic experiences (PEs) in early (age 13, N = 6705) and late (age 18, N = 4676) adolescence, rated from semi-structured interviews...
February 22, 2017: Psychological Medicine
https://www.readbyqxmd.com/read/28219457/maximum-time-to-rescue-after-the-1908-messina-reggio-calabria-earthquake-was-20-days-hints-for-disaster-planning
#19
Natale Gaspare De Santo, Carmela Bisaccia, Luca Salvatore De Santo
Introduction Maximum time-to-rescue has been studied accurately for many earthquakes in the years 1985-2004. No study is available for historical quakes. Hypothesis/Problem This study aimed to evaluate long-term survivors (from the fifth day after the quake) of the Messina-Reggio Calabria earthquake (1908; Italy), which is considered, historically, to be the worst seismic event in Europe. METHODS: Accurate readings of 11 national newspapers from the fifth day after the quake looking for rescued persons and transferring, to an ad hoc form, all data relating to each rescued person...
February 21, 2017: Prehospital and Disaster Medicine
https://www.readbyqxmd.com/read/28218617/chimeric-protein-repair-of-laminin-polymerization-ameliorates-muscular-dystrophy-phenotype
#20
Karen K McKee, Stephanie C Crosson, Sarina Meinen, Judith R Reinhard, Markus A Rüegg, Peter D Yurchenco
Mutations in laminin α2-subunit (Lmα2, encoded by LAMA2) are linked to approximately 30% of congenital muscular dystrophy cases. Mice with a homozygous mutation in Lama2 (dy2J mice) express a nonpolymerizing form of laminin-211 (Lm211) and are a model for ambulatory-type Lmα2-deficient muscular dystrophy. Here, we developed transgenic dy2J mice with muscle-specific expression of αLNNd, a laminin/nidogen chimeric protein that provides a missing polymerization domain. Muscle-specific expression of αLNNd in dy2J mice resulted in strong amelioration of the dystrophic phenotype, manifested by the prevention of fibrosis and restoration of forelimb grip strength...
March 1, 2017: Journal of Clinical Investigation
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