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https://www.readbyqxmd.com/read/29909594/the-influence-of-adolescence-on-parents-perspectives-of-testing-and-discussing-inherited-cancer-predisposition
#1
Corinna L Schultz, Melissa A Alderfer, Robert B Lindell, Zachary McClain, Kristin Zelley, Kim E Nichols, Carol A Ford
Li-Fraumeni syndrome (LFS) is a highly penetrant cancer predisposition syndrome that may present with a first cancer before or during adolescence/young adulthood. Families offered LFS genetic testing for their children can inform our understanding of how the unique developmental context of adolescence influences parental perspectives about genetic testing and discussions of cancer risk. In this study, semi-structured interviews were conducted with 46 parents of children at risk for LFS to capture those perspectives...
June 16, 2018: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29909553/increasing-quality-of-life-in-pulmonary-arterial-hypertension-is-there-a-role-for-nutrition
#2
REVIEW
Paulien Vinke, Suzanne M Jansen, Renger F Witkamp, Klaske van Norren
Pulmonary arterial hypertension (PAH) is a progressive disease primarily affecting the pulmonary vasculature and heart. PAH patients suffer from exercise intolerance and fatigue, negatively affecting their quality of life. This review summarizes current insights in the pathophysiological mechanisms underlying PAH. It zooms in on the potential involvement of nutritional status and micronutrient deficiencies on PAH exercise intolerance and fatigue, also summarizing the potential benefits of exercise and nutritional interventions...
June 16, 2018: Heart Failure Reviews
https://www.readbyqxmd.com/read/29909283/synergistic-environmental-exposures-and-the-airways-capturing-complexity-in-humans
#3
REVIEW
Chris Carlsten
Paradoxically, the vast majority of research models intended to understand the relationship between exogenous exposures and lung disease are reduced to a single inhalant. This is understandable given the practical challenges of investigation, but is problematic in terms of translation to the real-world human condition. Furthermore, use of data from such models can lead to under-estimation of effect, which may adversely impact regulatory imperatives to protect public health based on the most robust information...
June 14, 2018: Chest
https://www.readbyqxmd.com/read/29909200/epigenetic-control-of-variation-and-stochasticity-in-metabolic-disease
#4
REVIEW
Ilaria Panzeri, John Andrew Pospisilik
BACKGROUND: The alarming rise of obesity and its associated comorbidities represents a medical burden and a major global health and economic issue. Understanding etiological mechanisms underpinning susceptibility and therapeutic response is of primary importance. Obesity, diabetes, and metabolic diseases are complex trait disorders with only partial genetic heritability, indicating important roles for environmental programing and epigenetic effects. SCOPE OF THE REVIEW: We will highlight some of the reasons for the scarce predictability of metabolic diseases...
May 18, 2018: Molecular Metabolism
https://www.readbyqxmd.com/read/29909060/quantification-of-bone-microstructure-in-the-wrist-using-cone-beam-computed-tomography
#5
Karen Mys, Filip Stockmans, Evie Vereecke, G Harry van Lenthe
Due to the rising life expectancy, bone diseases (e.g. osteoporosis, osteoarthritis) and trauma (e.g. fracture) have become an important socio-economic burden. Accurate visualization and quantification of the bone microstructure in vivo is seen as an important step to enhance diagnosis and treatment. Micro-computed tomography (microCT) has become the gold standard in three-dimensional (3D) imaging of trabecular bone structure. Yet, usage is limited to ex vivo analyses, hence, it cannot be used to evaluate bone and bone adaptive responses in a patient...
June 14, 2018: Bone
https://www.readbyqxmd.com/read/29909057/study-design-and-protocol-for-a-culturally-adapted-cognitive-behavioral-stress-and-self-management-intervention-for-localized-prostate-cancer-the-encuentros-de-salud-study
#6
Frank J Penedo, Michael H Antoni, Patricia I Moreno, Lara Traeger, Dolores Perdomo, Jason Dahn, Gregory E Miller, Steve Cole, Julian Orjuela, Edgar Pizarro, Betina Yanez
Almost 2.8 million men in the U.S. are living with prostate cancer (PC), accounting for 40% of all male cancer survivors. Men diagnosed with prostate cancer may experience chronic and debilitating treatment side effects, including sexual and urinary dysfunction, pain and fatigue. Side effects can be stressful and can also lead to poor psychosocial functioning. Prior trials reveal that group-based cognitive behavioral stress and self-management (CBSM) is effective in reducing stress and mitigating some of these symptoms, yet little is known about the effects of culturally-translated CBSM among Spanish-speaking men with PC...
June 14, 2018: Contemporary Clinical Trials
https://www.readbyqxmd.com/read/29908151/vaccination-with-a-cd4-and-cd8-t-cell-epitopes-based-recombinant-chimeric-protein-derived-from-leishmania-infantum-proteins-confers-protective-immunity-against-visceral-leishmaniasis
#7
Daniel S Dias, Patrícia A F Ribeiro, Vívian T Martins, Daniela P Lage, Lourena E Costa, Miguel A Chávez-Fumagalli, Fernanda F Ramos, Thaís T O Santos, Fernanda Ludolf, Jamil S Oliveira, Tiago A O Mendes, Eduardo S Silva, Alexsandro S Galdino, Mariana C Duarte, Bruno M Roatt, Daniel Menezes-Souza, Antonio L Teixeira, Eduardo A F Coelho
Vaccination seems to be the best approach to control visceral leishmaniasis (VL). Resistance against infection is based on the development of a Th1 immune response characterized by the production of interferons-γ (IFN-γ), interleukin-12 (IL-12), granulocyte-macrophage-colony-stimulating factor (GM-CSF), and tumor necrosis factor-α (TNF-α), among others. A number of antigens have been tested as potential targets against the disease; few of them are able to stimulate human immune cells. In the present study, 1 prediction of MHC class I and II molecules-specific epitopes in the amino acid sequences of 3 Leishmania proteins: 1 hypothetical, prohibitin, and small glutamine-rich tetratricopeptide repeat-containing proteins, was performed using bioinformatics tools, and a T-cell epitopes-based recombinant chimeric protein was constructed, synthetized and purified to be evaluated in invitro and in vivo experiments...
May 22, 2018: Translational Research: the Journal of Laboratory and Clinical Medicine
https://www.readbyqxmd.com/read/29908079/targeted-brain-proteomics-uncover-multiple-pathways-to-alzheimer-s-dementia
#8
Lei Yu, Vladislav A Petyuk, Chris Gaiteri, Sara Mostafavi, Tracy Young-Pearse, Raj C Shah, Aron S Buchman, Julie A Schneider, Paul D Piehowski, Ryan L Sontag, Thomas L Fillmore, Tujin Shi, Richard D Smith, Philip L De Jager, David A Bennett
OBJECTIVE: Previous gene expression analysis identified a network of co-expressed genes that is associated with β-amyloid neuropathology and cognitive decline in older adults. The current work targeted influential genes in this network with quantitative proteomics to identify potential novel therapeutic targets. METHODS: Data came from 834 community-based older persons who were followed annually, died and underwent brain autopsy. Uniform structured postmortem evaluations assessed the burden of β-amyloid and other common age-related neuropathologies...
June 16, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29908077/genome-sequencing-uncovers-phenocopies-in-primary-progressive-multiple-sclerosis
#9
Xiaoming Jia, Lohith Madireddy, Stacy Caillier, Adam Santaniello, Federica Esposito, Giancarlo Comi, Olaf Stuve, Yuan Zhou, Bruce Taylor, Trevor Kilpatrick, Filippo Martinelli-Boneschi, Bruce A C Cree, Jorge R Oksenberg, Stephen L Hauser, Sergio E Baranzini
OBJECTIVE: Primary progressive multiple sclerosis (PPMS) causes accumulation of neurologic disability from disease onset without clinical attacks typical of relapsing multiple sclerosis (RMS). However, whether genetic variation influences the disease course remains unclear. We aimed to determine whether mutations causative of neurologic disorders that share features with MS contribute to risk for developing PPMS. METHODS: We examined whole-genome sequencing (WGS) data from 38 PPMS and 81 healthy subjects of European ancestry...
June 16, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29908025/seroprevalence-and-social-determinants-of-varicella-in-turkey
#10
Can Hüseyin Hekimoğlu, Özgen Alpay Özbek, Mestan Emek, Mehmet Ali Öktem, Galip Köroğlu, Mustafa Sertel, Sevin Özdeniz, Ali Ceylan, Ayla Açikgöz, Belgin Ünal
Background: In Turkey, varicella vaccine was introduced into routine childhood immunization in 2013, with a single dose administered to children aged 12 months. However, there is limited information on the morbidity (incidence and seroprevalence), mortality and burden of disease of varicella in the overall Turkish population. Aim: To determine varicella seroprevalence and its social determinants in Manisa Province, Turkey in children aged > 2 years before single-dose varicella vaccination was introduced in 2013...
June 10, 2018: Eastern Mediterranean Health Journal, la Revue de Santé de la Méditerranée Orientale
https://www.readbyqxmd.com/read/29908018/adherence-to-antiretroviral-therapy-in-hiv-positive-male-intravenous-drug-users-in-pakistan
#11
Bakht Ali, Nighat Nisar, Faryal Nawab
Background: Human immunodeficiency virus (HIV) is fifth leading cause of mortality and disability among infectious diseases worldwide. HIV burden is increasing annually and compliance with antiretroviral therapy (ART) is low among intravenous drug users, especially in developing countries. Aim: To determine the adherence level to ART among HIV-positive intravenous drug users in Karachi Pakistan. Methods: A cross-sectional study was conducted in 2015...
June 10, 2018: Eastern Mediterranean Health Journal, la Revue de Santé de la Méditerranée Orientale
https://www.readbyqxmd.com/read/29907977/melatonin-induces-mechanisms-of-brain-resilience-against-neurodegeneration
#12
Rubén Corpas, Christian Griñán-Ferré, Verónica Palomera-Ávalos, David Porquet, Pablo García de Frutos, Silvia M Franciscato Cozzolino, Eduard Rodríguez-Farré, Mercè Pallàs, Coral Sanfeliu, Bárbara R Cardoso
Melatonin is an endogenous pleiotropic molecule which orchestrates regulatory functions and protective capacity against age-related ailments. The increase in circulating levels of melatonin through dietary supplements intensifies its health benefits. Investigations in animal models have shown that melatonin protects against Alzheimer's disease (AD)-like pathology, although clinical studies have not been conclusive. We hypothesized that melatonin induces changes in the brain that prevent or attenuate AD by increasing resilience...
June 15, 2018: Journal of Pineal Research
https://www.readbyqxmd.com/read/29907884/availability-and-affordability-of-essential-medicines-implications-for-global-diabetes-treatment
#13
REVIEW
David Beran, Margaret Ewen, Kasia Lipska, Irl B Hirsch, John S Yudkin
PURPOSE OF REVIEW: The purpose of this review is to highlight the key issues with regard to the value, affordability, and availability of diabetes treatments. RECENT FINDINGS: Many of the medicines needed to manage diabetes are available as generics and, if purchased appropriately, can be made affordable to many individuals and systems. With new treatments for diabetes, additional costs to individuals and systems need to be assessed in terms of added clinical benefit and financial impact...
June 16, 2018: Current Diabetes Reports
https://www.readbyqxmd.com/read/29907707/-leishmania-donovani-exploits-tollip-a-multitasking-protein-to-impair-tlr-il-1r-signaling-for-its-survival-in-the-host
#14
Naveen Parmar, Pragya Chandrakar, Preeti Vishwakarma, Kavita Singh, Kalyan Mitra, Susanta Kar
IL-1R/TLR signaling plays a significant role in sensing harmful foreign pathogens and mounting effective innate and adaptive immune responses. However, the precise mechanism by which Leishmania donovani, an obligate intramacrophagic pathogen, breaches IL-1R/TLR signaling and host-protective immunity remains obscure. In this study, we report the novel biphasic role of Toll-interacting protein (Tollip), a negative regulator of the IL-1R/TLR pathway, in the disease progression of experimental visceral leishmaniasis...
June 15, 2018: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/29907667/symptoms-of-autonomic-dysfunction-in-systemic-sclerosis-assessed-by-the-compass-31-questionnaire
#15
Brittany L Adler, James W Russell, Laura K Hummers, Zsuzsanna H McMahan
OBJECTIVE: Autonomic dysfunction is a known complication of systemic sclerosis (SSc) that can affect vascular tone, gastrointestinal (GI) motility, heart rate, and blood pressure control. We sought to quantify autonomic symptom burden in SSc, and to define the characteristics of patients with SSc and autonomic dysfunction. METHODS: Patients with SSc were consecutively recruited during routine clinical visits at the Johns Hopkins Scleroderma Center and asked to complete the Composite Autonomic Symptom Score (COMPASS)-31 questionnaire, a validated tool to assess symptoms of autonomic dysfunction...
June 15, 2018: Journal of Rheumatology
https://www.readbyqxmd.com/read/29907582/social-network-characteristics-are-associated-with-type-2-diabetes-complications-the-maastricht-study
#16
Stephanie Brinkhues, Nicole H T M Dukers-Muijrers, Christian J P A Hoebe, Carla J H van der Kallen, Annemarie Koster, Ronald M A Henry, Coen D A Stehouwer, Paul H M Savelkoul, Nicolaas C Schaper, Miranda T Schram
OBJECTIVE: The relation between clinical complications and social network characteristics in type 2 diabetes mellitus (T2DM) has hardly been studied. Therefore, we examined the associations of social network characteristics with macro- and microvascular complications in T2DM and investigated whether these associations were independent of glycemic control, quality of life, and well-known cardiovascular risk factors. RESEARCH DESIGN AND METHODS: Participants with T2DM originated from the Maastricht Study, a population-based cohort study ( n = 797, mean age 62...
June 15, 2018: Diabetes Care
https://www.readbyqxmd.com/read/29907554/a-surveillance-infrastructure-for-malaria-analytics-provisioning-data-access-and-preservation-of-interoperability
#17
Mohammad Sadnan Al Manir, Jon Haël Brenas, Christopher Jo Baker, Arash Shaban-Nejad
BACKGROUND: According to the World Health Organization, malaria surveillance is weakest in countries and regions with the highest malaria burden. A core obstacle is that the data required to perform malaria surveillance are fragmented in multiple data silos distributed across geographic regions. Furthermore, consistent integrated malaria data sources are few, and a low degree of interoperability exists between them. As a result, it is difficult to identify disease trends and to plan for effective interventions...
June 15, 2018: JMIR Public Health and Surveillance
https://www.readbyqxmd.com/read/29907481/diversity-of-rotavirus-strains-circulating-in-children-under-five-years-of-age-who-presented-with-acute-gastroenteritis-before-and-after-rotavirus-vaccine-introduction-university-teaching-hospital-lusaka-zambia-2008-2015
#18
J C Simwaka, Evans M Mpabalwani, Mapaseka Seheri, Ina Peenze, Mwaka Monze, Belem Matapo, Umesh D Parashar, Jacob Mufunda, Jeffrey M Mphahlele, Jacqueline E Tate, Jason M Mwenda
BACKGROUND: Following the introduction of rotavirus vaccine into the routine immunization schedule, the burden of rotavirus disease has significantly reduced in Zambia. Although rotavirus vaccines appear to confer good cross-protection against both vaccine and non-vaccine strains, concerns about strain replacement following vaccine implementation remain. We describe the diversity of the circulating rotavirus strains before and after the Rotarix® vaccine was introduced in Lusaka from January 2012...
June 12, 2018: Vaccine
https://www.readbyqxmd.com/read/29907466/sudden-death-risk-markers-for-patients-with-left-ventricular-ejection-fractions-greater-than-40
#19
REVIEW
Brian P Halliday, Amrit S Lota, Sanjay K Prasad
The major burden of sudden cardiac death (SCD) in patients with heart disease occurs in those with a left ventricular ejection fraction > 40%. Although the annual risk of SCD may be lower in these patients compared to those with lower LVEF, their lifetime cumulative risk of SCD may be greater due to a better overall prognosis. It is plausible that those with LVEF > 40% who are at highest risk of life-threatening arrhythmia will benefit from implantable cardioverter defibrillators. Features that identify patients with a LVEF > 40% at high risk of SCD are urgently needed...
June 12, 2018: Trends in Cardiovascular Medicine
https://www.readbyqxmd.com/read/29907334/risk-and-benefits-of-bubble-continuous-positive-airway-pressure-for-neonatal-and-childhood-respiratory-diseases-in-low-and-middle-income-countries
#20
REVIEW
Osayame A Ekhaguere, Amsa B Mairami, Haresh Kirpalani
Over 80% of the global burden of childhood deaths occur in Low- and Middle-Income Countries (LMIC). Of the leading causes of death, respiratory failure is common to the top three. Bubble Continuous Positive Airway Pressure (bCPAP) is a standard therapy considered safe and cost effective in high resource settings. Although high-quality trials from LMIC are few, pooled available trial data considered alongside studies from high-income countries suggest that bCPAP: (i) reduces mortality; (ii) reduces the need for mechanical ventilation; and (iii) prevents extubation failure...
May 4, 2018: Paediatric Respiratory Reviews
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