Whole Genome Sequencing in Era of Newborn Screening
Abstract
1478 10614
Whole Genome Sequencing in Era of Newborn ScreeningAbstract
After the completion of the human genome project, there have been many advances in the field of genetics. With next generation sequencing, patients can undergo genomic analysis through whole exome or whole genome testing. These comprehensive tests can shorten the diagnostic odyssey and guide medical management and thereby potentially reduce mortality and morbidity. To date, parents and physicians have reported positive perceptions of using these genomic testing even when a diagnosis is not made. Remaining challenge [...] 1478 10614 |
Pediatric Mixed Left Ventricular Non-Compaction and Restrictive Cardiomyopathy Bridged to Heart Transplant with Ventricular Assistby
Abstract
Left ventricular noncompaction cardiomyopathy (LVNC) is a rare form of heritable cardiomyopathy with wide genotypic variability, numerous phenotypic variations, and a wide spectrum of clinical disease from asymptomatic to end stage heart failure. Here, we present a case of a 2-year-old boy who presented to their pediatrician with a cough as a first clinical sign of heart failure, rapidly progressing to severe heart failure. He was found to have mixed LVNC with a restrictive phenotype, a rare phenotype of this form [...] 1743 10609 |
Artificial Neural Networks and Gradient Boosted Machines Used for Regression to Evaluate Gasification Processes: A ReviewAbstract
Waste-to-Energy technologies have the potential to dramatically improve both the natural and human environment. One type of waste-to-energy technology that has been successful is gasification. There are numerous types of gasification processes and in order to drive understanding and the optimization of these systems, traditional approaches like computational fluid dynamics software have been utilized to model these systems. The modern advent of machine learning models has allowed for accurate and computationally ef [...] 1522 10606 |
Concentrations of Gaseous Elemental Mercury in the Atmosphere of a Mediterranean Coastal Site in GreeceAbstract
Gaseous elemental mercury (GEM) was monitored in the atmosphere of a coastal site situated in the Northern Aegean Sea of Greece from August 2014 to January 2015. The selected sampling site is seldom impacted by human activities. Thus, it was possible to study the processes involved in natural terrestrial, aquatic, and atmospheric environments. The diurnal and monthly variations in the concentration of GEM as well as the factors influencing these variations were determined. The GEM concentrations were found to be in [...] 1527 10603 |
Assessment of Agro Allied Chemical Pollution on Surface Water Quality of River Lamurde and Mayo-Gwoi, Jalingo, Taraba State, NigeriaAbstract
Water bodies have been severely degraded in recent years due to the indiscriminate use of agro-allied chemicals. The study assesses the agro-allied chemical pollution on the surface water quality in River Lamurde and Mayo Gwoi. Water samples were collected from twenty-one (21) sample locations along the River Lamurde and Mayo-Gwoi to determine the seasonal variation during the wet and dry seasons through field determination of water quality and laboratory-based analysis at Taraba State Rural Water Supply and Sanita [...] 1461 10596 |
Aging in A Changing World – the Impact of Social Contact and Physical Activity on Health-Related Quality among Older People from Austria – A Biological PerspectiveAbstract
Background: All over the world we are confronted with an absolute and relative increase in the proportion of older people. In order to develop strategies to keep older people healthy and independent as long as possible, analyses of factors influencing health related quality of life (HRQL) during old age are necessary. The aim of this review is to present the results of three projects carried out in Austria by the author focusing on the impact of social contact and physical activity on HRQL.
Methods: The standardize [...] 1736 10591 |
Biogeochemical Technologies for Managing CO2 Flows in AgroecosystemsAbstract
The review article discusses the application of biogeochemical technologies aimed at restoring biogeochemical cycles in agroecosystems, primarily in the microbial link regulating CO2 flows. The factors of management this microbial link when applying mineral and organic fertilizers are shown. The processes of mineralization of soil organic matter and methods of controlling soil's conjugate carbon- and nitrogen-mineralizing ability are considered. The changes in the productivity of agricultural ecosystems under c [...] 1324 10579 |
Effective Delivery of Cancer Vaccines with Oxidatively Photo-Inactivated Transgenic Leishmania for Tumor Immunotherapy in Mouse ModelsAbstract
The parasitic protozoa in the genus of Leishmania have exceptionally favorable attributes for exploitation as a vehicle for safe and effective delivery of transgenically incorporated vaccines against infectious and malignant diseases. A dual suicidal mechanism was installed in Leishmania via genetic and chemical engineering in vitro for accumulation of photosensitizers, rendering them sensitive to dim light for inactivation. Leishmania so inactivated are non-viable, but immunologically competent to deliver vaccines [...] 2049 10573 |
Does a Single Bout of Aerobic Exercise Improve Set Shifting in Healthy Young Adults? A Systematic Review and Meta-AnalysisAbstract
This systematic review and meta-analysis investigated whether acute aerobic exercise improves subsequent set shifting performance in healthy young individuals. Potential moderation of studies’ methodological quality and exercise intensity, as well as the presence of small-study effect was also examined. Studies were identified using electronic databases Medline, PsycINFO, and SPORTDiscus, as well as references of recent meta-analyses and references of included studies. In total, 12 studies were included into [...] 1783 10571 |
Effectiveness of Mindfulness-Based Stress Reduction (MBSR) Interventions on Mindfulness and Stress Symptoms for Cancer Patients: A Quantitative AssessmentAbstract
The aim of this article is to provide a quantitative assessment of the correlation between heightened mindfulness and stress reduction among cancer patients and survivors who engaged in Mindfulness-Based Stress Reduction (MBSR) interventions. Utilizing data from eight studies, we conducted quantitative analyses to provide the effectiveness scores of MBSR interventions on mindfulness, assessed using the Mindful Attention Awareness Scale (MAAS), and stress symptoms, evaluated through standardized self-reported questi [...] 1235 10568 |
Building Blocks for an Energy TransitionAbstract
The present need for an energy transition in the wake of a global climate catastrophe led to the “EU green deal” which requires a transition of the energy system in all countries. This study aimis survey aims to identify strategies within such an energy transition based on global trend analyses and reports on available technologies for implementation. Based on a literature analysis of over 300 pieces (of feasibility studies and technology implementation reports with a focus on Central Europe) and a statistical anal [...] 1391 10559 |
Impact of COVID-19 Lockdowns and Australian Bushfires on Aerosol Loading over the Downwind Oceanic Regionsby
Abstract
Nearly 40 years of aerosol optical thickness (AOT) climate data record (CDR) from AVHRR satellite observations over the global ocean is used to study the impact of COVID-19 lockdowns and Australian bushfires on aerosol loading over downwind oceanic regions. Recent similar impact studies, by contrast, were mainly focused on the urban and suburban areas near the emission sources. AOT is used as a proxy for aerosol loading in our study. We found that AOT variations due to anthropogenic emission reduction during the lo [...] 1767 10558 |
The Evolution of DNA Typing in Agri-Food ChainAbstract
Background: DNA typing has revolutionized not only diagnostics and forensics but also how we can analyze food. A number of techniques have been successfully applied for DNA analysis of plant-derived food. However, unlike forensics, a universally employed method has not yet emerged.
Methods: A keyword-based search was performed using the ISI-Web of Science database to look for research articles on DNA testing in agri-food chain. After screening and eligibility check, a Systematic Review was compiled focusing on the [...] 1847 10554 |
Chagas Disease, Leishmaniasis, and Malaria in Solid Organ Transplant Recipientsby
Abstract
Solid organ transplantation (SOT) is increasingly employed worldwide to treat several diseases causing both acute and chronic organ failure. Recipients of SOT are at an increased risk to develop infections as a consequence of immunosuppressive therapy. Sometimes such infections may be acquired by the transplanted organ or by reactivation of a previously acquired latent infection. The globalization and the increase of international travel poses a risk for exposure to infections such as Chagas disease (CD), leishmani [...] 2101 10550 |
Effects of a Mindfulness-Based Intervention on Circulating Cytokine Levels in Individuals with Amnestic Mild Cognitive Impairment: A Pilot Studyby
Abstract
Peripheral inflammation plays an important role in the pathophysiology of Alzheimer’s disease (AD) and dysregulations in circulating levels of different inflammatory mediators are detectable as early as the mild cognitive impairment (MCI) stage towards AD. Depressive symptoms, another risk factor of AD, are often found in individuals with MCI and associated with heightened levels of peripheral inflammatory mediators. Diminution in depressive symptoms and alterations of peripheral inflammation profiles have been obs [...] 2031 10546 |
Converting CO2 from a Harmful Gas to a Renewable Source of Matter and Energy: A ReviewAbstract
The emission of greenhouse gases, specifically CO2, has reached non-acceptable levels causing global warming with adverse effects. Owing to rigorous ongoing research, these harmful substances might be converted to beneficial sources. The main objective of this study was to review the most effective processes that might utilize carbon dioxide to produce various substances, chemicals, and energy. For this, different existing and projected short-term and long-term strategies have been presented and discussed. Specific [...] 1884 10539 |
The Relationship between Rem Sleep Behaviour Disorder and Parkinson’s Disease Revisited – Are They One and the Same?by
Abstract
This paper reviews the relationship between RBD and PD and the pathophysiology. Most RBD patients develop PD within 14 years. PD pathophysiology is α-synucleinopathy with dopamine degeneration in nigrostriatal pathways. RBD pathology is poorly understood. Anomalies suggest RBD and PD are different, evidenced by smoking. RBD and PD are associated with glucocerebrosidase gene mutations (GBA gene), suggesting RDB with GBA gene mutation predicts PD. PET imaging, assessing vesicular monoamine transporter 2 (VMAT2), inde [...] 1208 10529 |
EBF1 Exhibits Crosstalk Regulation with ERα and ERβ in Some Hormone-Based CancersAbstract
Estrogen-based cancers affect a substantial portion of the female population in the United States. While multiple studies have examined the effect of estrogen receptor alpha (ERα/ESR1) in cancer, the effects of ERβ/ESR2 are not as well understood in tumor tissues. Furthermore, there are few studies examining the role of specific binding partners of the estrogen receptors, such as early B-cell factor 1 (EBF1). EBF1 has been shown to have a role in B cell development and differentiation and is also know [...] 2059 10525 |
To Opt or Not to Opt for Preimplantation and/or Prenatal Genetic Testing?Abstract
Both preimplantation genetic testing (PGT) and prenatal diagnosis (PND) are powerful tools to tackle the transmission of inherited disorders carried by families from generation to generation. Here, we present an overview of the current landscape of both methods and identify the pros and cons of each of these reproductive options. In prenatal testing, non-invasive diagnostic methods have become available as an alternative for invasive diagnosis. Different genome sequencing strategies have now been introduced that en [...] 2143 10521 |
Breathing-Based Meditation for Improving COPD Burden: A Mixed Single-Case and Qualitative ApproachAbstract
Chronic obstructive pulmonary disease (COPD) impacts the physiological and psycho-emotional aspects of life. COPD-related secondary sequelae also synergistically interact with each other. For example, dyspnea affects the severity of breath, body functions, and the mind (e.g., anxiety, panic, fear). Such negative psycho-emotional states can further negatively impact the breath and the body (e.g., increased dyspnea). Given the breadth of the impact of COPD on multiple facets of health and well-being, it is essential [...] 1501 10516 |
Pancreatitis in Solid Organ Transplant Patients: A Review of the LiteratureAbstract
Acute pancreatitis is a highly morbid condition widely recognized and well-defined in the general population. In this article, we summarize the current literature on acute pancreatitis in the setting of solid organ transplant axiom, including patients who are listed for or have undergone transplantation. The literature is summarized by organ transplant type, including cardiac, lung, pancreas, kidney, intestine, and liver. Our review suggests that providers should have a high index of suspicion for acute pancreatiti [...] 1417 10515 |
How to Prioritize Voluntary Dietary Modificationby
Abstract
Environmentally motivated voluntary diet modifications are the focus of much research and public discourse. Yet the nuanced multi-faceted, multi-dimensional nature of agriculture-earth interactions, and limited public environmental knowledge likely combine to undermine the efficacy of environmentally motivated dietary shifts, squandering limited good will. To counter this, here I devise two related indices for crudely estimating importance of various environmental impacts of alternative dietary choices. Based on th [...] 1587 10512 |
Increased Diurnal Salivary Cortisol and Morning Serum Triglycerides and Decreased Apo A1 Concentrations in Children and Adolescents with Clinical Depressionby
Abstract
Data available on possible associations of lipids, steroid levels, and depression are conflicting. This study investigated their possible associations in a sample of youth with depression. Ninety-eight youth with depression and individually matched healthy volunteers on the basis of age and sex were enrolled for the study. The two groups had nearly similar body mass index. After fasting overnight, they underwent blood sampling for triglycerides (TG), total cholesterol, low-density lipoprotein, high-density lipoprot [...] 1575 10511 |
Alemtuzumab Treatment Leads to Delayed Recovery of T Follicular Regulatory Cells, and May Therefore Predispose Patients to de novo Donor-Specific Antibody FormationAbstract
Background: T follicular helper (Tfh) and regulatory (Tfr) cells are key players in the formation of long-lived antibody responses. Their circulating counterparts, cTfh and cTfr, are often used as biomarkers because longitudinal sampling of secondary lymphoid tissues is unfeasible in clinical studies. This is the first study to track cTfh and cTfr cells following therapeutic lymphocyte depletion with alemtuzumab, an anti-CD52 monoclonal antibody, to infer the influence of this treatment on the germinal centre respo [...] 1712 10504 |
Evolution in the Management of Invasive Fungal Infections in Liver Transplant RecipientsAbstract
Invasive fungal infections (IFI) remain an important cause of morbidity and mortality, especially in hospitalized and immunocompromised or critically ill patients. The incidence of IFIs has been declining in liver transplant recipients (LTR). This is likely due to the evolving immunosuppressive drug regimens, improved surgical techniques and targeted antifungal prophylaxis. However, IFI still contribute to high mortality and are associated with high economic burden due to consumption of costly newer antifungal agen [...] 1753 10500 |
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