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Neonatal Screening for Critical Congenital Heart Defects

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ISBN: 9783039210480 9783039210497 Year: Pages: 98 DOI: 10.3390/books978-3-03921-049-7 Language: English
Publisher: MDPI - Multidisciplinary Digital Publishing Institute
Subject: Social Sciences --- Sociology
Added to DOAB on : 2019-06-26 08:44:06
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Critical congenital heart defects (CCHDs) are potentially life-threatening malformations that remain a significant cause of neonatal mortality and morbidity. Failure to diagnose these conditions shortly after birth may result in acute cardiovascular collapse and death. The identification of CCHDs by routine newborn clinical examination is routine in many countries, but consistently misses over a third of cases, and, although antenatal ultrasound screening can be very effective in early diagnosis, the provision and accuracy of ultrasound screening is highly variable. As most CCHDs present with mild cyanosis (hypoxaemia), which is frequently clinically undetectable, pulse oximetry is a rapid, simple, painless method of accurately identifying hypoxaemia, which has gained popularity as a screen for CCHD. This Special Issue of the International Journal of Neonatal Screening, devoted to ""Neonatal Screening for Critical Congenital Heart Defects (CCHDs)"", will consider the evidence for CCHD screening with pulse oximetry, the acceptability and cost-effectiveness of this intervention, the additional non-cardiac conditions which it may also identify, and international experiences of introducing CCHD screening across the globe.

Versorgungs-Report Früherkennung

Authors: --- --- --- --- et al.
ISBN: 9783954664023 9783954664542 Year: Language: German
Publisher: MWV Medizinisch Wissenschaftliche Verlagsgesellschaft Grant: Knowledge Unlatched - 104785
Subject: Public Health
Added to DOAB on : 2019-08-08 11:21:10
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Die aktuelle Ausgabe des Versorgungs-Reports greift die versorgungswissenschaftliche Diskussion um Chancen und Risiken der Früherkennung auf. Namhafte Expertinnen und Experten beleuchten aktuelle Entwicklungen und Herausforderungen bei der Früherkennung von Krankheiten. Im Fokus stehen: - gesundheitswissenschaftliche Konzepte und Methoden der Früherkennung - wissenschaftliche Erkenntnisse über Nutzen und Risiken ausgewählter Screenings - Entwicklung und Anforderungen an ausgewogene, evidenzbasierte Informationsangebote - empirische Analysen zur Akzeptanz und Inanspruchnahme von Früherkennungsuntersuchungen in der GKV Der Teil „Daten und Analysen“ informiert auf der Grundlage von AOK-Abrechnungsdaten über die Häufigkeit von Erkrankungen und Behandlungen in Deutschland: - Behandlungsprävalenzen und Hospitalisierungsraten für die häufigsten Erkrankungen, differenziert nach Alter und Geschlecht - Krankenhausbehandlungen, Arznei- und Heilmittelverordnungen sowie ärztliche Inanspruchnahme

Forty Years of Heel Prick Screening in the Netherlands

Authors: ---
ISBN: 9783038421894 9783038421900 Year: Pages: 114 Language: English
Publisher: MDPI - Multidisciplinary Digital Publishing Institute
Added to DOAB on : 2016-06-01 16:35:30
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This book aims to provide an overview of developments in the heel prick screening programme in the Netherlands in which similarities with the situation elsewhere in the world, where relevant, will be mentioned. In the Netherlands, the preparations for the national screening programme started in 1964. The formal launch of the programme was on September 1, 1974. In 2014, therefore this programme had existed 40 years. The book is structured as follows. Chapter 1 describes how the programme began with one disease and over the years has continued to expand to currently covering 19 disorders. Chapter 2 focuses on the organisation of the screening programme and the agencies that have been involved over the years. Chapter 3 is intended to provide a global view of the programme in its current form. Chapter 4 describes how neonatal screening programmes elsewhere in the world developed and outline their main differences with the Dutch programme. Finally, Chapter 5 contains the summary and conclusions. This chosen structure leads to some aspects being mentioned more than once. The book is intended for a broad audience that is interested in policy making on heel prick screening; hence, scientific depth is limited. Where possible and useful, references to the scientific literature have been included but completeness has not been pursued. The main sources were the archives of the National Steering Committees for Phenylketonuria and Congenital Hypothyroidism (LBCs), supplemented with interviews with the persons listed in Annex 1 and, if available, their personal archives. This is a translation of the book “Veertig Jaar Hielprikscreening in Nederland”, that was published by Prelum Publishers, Houten, the Netherlands with ISBN 978-90-8562-133-1 © 2014 Prelum, Houten; RIVM, Bilthoven; Vumc, Amsterdam.

Novel Approaches to the Analysis of Family Data in Genetic Epidemiology

Authors: --- --- ---
Book Series: Frontiers Research Topics ISSN: 16648714 ISBN: 9782889199327 Year: Pages: 84 DOI: 10.3389/978-2-88919-932-7 Language: English
Publisher: Frontiers Media SA
Subject: Science (General) --- Genetics
Added to DOAB on : 2016-01-19 14:05:46
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Genome-wide association studies (GWAS) for complex disorders with large case-control populations have been performed on hundreds of traits in more than 1200 published studies (http://www.genome.gov/gwastudies/) but the variants detected by GWAS account for little of the heritability of these traits, leading to an increasing interest in using family based designs. While GWAS studies are designed to find common variants with low to moderate attributable risks, family based studies are expected to find rare variants with high attributable risk. Because family-based designs can better control both genetic and environmental background, this study design is robust to heterogeneity and population stratification. Moreover, in family-based analysis, the background genetic variation can be modeled to control the residual variance which could increase the power to identify disease associated rare variants. Analysis of families can also help us gain knowledge about disease transmission and inheritance patterns. Although a family-based design has the advantage of being robust to false positives, novel and powerful methods to analyze families in genetic epidemiology continue to be needed, especially for the interaction between genetic and environmental factors associated with disease. Moreover, with the rapid development of sequencing technology, advances in approaches to the design and analysis of sequencing data in families are also greatly needed. The 11 articles in this book all introduce new methodology and, using family data, substantial new findings are presented in the areas of infectious diseases, diabetes, eye traits, autism spectrum disorder and prostate cancer.

Sensors for Food Safety and Quality

ISBN: 9783038421993 9783038422006 Year: Pages: 334 Language: English
Publisher: MDPI - Multidisciplinary Digital Publishing Institute
Added to DOAB on : 2016-06-07 11:19:06
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Ovarian Cancer Screening

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ISBN: 978038427162 9783038427155 Year: Pages: VI, 124 DOI: 10.3390/books978-3-03842-715-5 Language: English
Publisher: MDPI - Multidisciplinary Digital Publishing Institute
Subject: Medicine (General)
Added to DOAB on : 2018-04-06 13:25:21
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Presented here are scientific reports which add considerable information to the area of early stage ovarian cancer detection and the application of this detection to ovarian cancer screening. In this volume, the following presentations are made:1) The performance of different ultrasound-based International Ovarian Tumor Analysis (IOTA) strategies is analyzed to discriminate between early stage ovarian malignancy and benign abnormalities of the ovary.2) Since oophorectomy confers protection against ovarian cancer, when adjustment for oophorectomy was made, rates of ovarian cancer were substantially higher.3) The frequency of symptoms relevant to ovarian cancer was found to be more than two-hundred times higher than the occurrence of ovarian cancer and it was found that 80.1% of women expressed confidence in the symptoms they reported.4) Complications resulting from surgery performed in the Kentucky Ovarian Cancer Screening Program were infrequent and significantly fewer than reported in the Prostate, Lung, Colorectal and Ovarian Cancer Screening trial. Complications observed were mostly minor (93%) and were more common in cancer versus non-cancer surgery.5) Arguments in favor of serial ultrasonography as an alternative to immediate surgery are presented and illustrate the benefits of surveillance.6) Ten critical considerations for ovarian cancer screening are presented in depth, highlighting their important bearing on ovarian screening outcomes and their interpretations.7) Considerations that have psychological and behavioral impacts on individuals participating in ovarian screening suggest that a “normal” screening test result can have psychological benefits, including an increased positive effect and beliefs in the efficacy of screening.8) The efficacy of ovarian cancer screening may be higher in Asia than in Europe and the USA. Additionally, the re-analysis of PLCO screening data, when cancers presenting more than one year after screening are excluded, shows a significant survival benefit in the PLCO screening trial.9) The effect that ovarian cancer has on patients and their families is examined from the perspective of a first-year resident in Obstetrics and Gynecology.10) The 50-year history of biomarkers and ultrasound in the context of ovarian cancer indicates the importance of serial application of both biomarkers and ultrasound. Taken together, this volume provides both original data and overviews of ovarian cancer screening studies that enhance the present interpretation of this type of screening.

Newborn Screening for Sickle Cell Disease and other Haemoglobinopathies

Authors: --- --- ---
ISBN: 9783039216147 9783039216154 Year: Pages: 162 DOI: 10.3390/books978-3-03921-615-4 Language: English
Publisher: MDPI - Multidisciplinary Digital Publishing Institute
Subject: Science (General) --- Chemistry (General)
Added to DOAB on : 2019-12-09 11:49:15
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Newborn Screening for Sickle Cell Disease and other Haemoglobinopathies is a Special Issue of the International Journal of Neonatal Screening. Sickle cell disease is one of the most common inherited blood disorders, with a huge impact on health care systems due to high morbidity and high mortality associated with the undiagnosed disease. Newborn screening helps to make the diagnosis early and to prevent fatal complications and diagnostic odysseys. This book gives an overview of diagnostic standards in newborn screening for sickle cell disease and examples of existing newborn screening programs.

Keywords

newborn screening --- sickle cell disease --- India --- tribal --- non-tribal --- Guthrie spots --- cord blood --- automated HPLC --- (recommended) screening panel --- policy making --- harmonisation --- patient advocacy --- Sickle Cell Disease --- ‘Getting to Outcomes’ --- newborn screening) --- sub-Saharan Africa --- Nigeria --- Kaduna State --- implementation science --- public health engagement --- glucose-6-phosphate dehydrogenase --- G6PD deficiency --- point-of-care --- diagnostics --- malaria --- Plasmodium vivax --- screening --- sickle cell disease --- newborn --- mass spectrometry --- hemoglobinopathies --- newborn screening --- methods --- review --- sickle cell disease --- neonatal screening program --- registry --- birth prevalence --- newborn screening --- sickle cell disease --- hemoglobinopathy --- laboratory methods --- neonatal screening --- hemoglobin pattern --- HPLC --- IEF --- capillary electrophoresis --- sickle cell disease --- high performance liquid chromatography (HPLC) --- ?-globin gene --- sickle cell disease --- newborn screening --- Caribbean --- newborn screening --- sickle cell disease --- MALDI-TOF --- mass spectrometry --- thalassemia --- prevention --- neonatal screening --- sickle cell disease --- hemoglobinopathies --- sickle cell disorder --- patient organisations --- patient representatives --- service users --- sickle cell and thalassaemia screening programme --- health policy --- screening --- sickle cell disease --- newborn --- thalassemia --- burden of disease --- newborn screening --- hemoglobinopathies --- sickle cell disease (SCD) --- pathophysiology --- hydroxyurea/hydroxycarbamide --- haemolysis --- vaso-occlusive crisis --- acute chest syndrome --- end-organ damage --- bone marrow transplant --- anaemia --- foetal haemoglobin --- gene therapy for haemoglobinopathies --- n/a

Computational and Experimental Approaches in Multi-Target Pharmacology

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Book Series: Frontiers Research Topics ISSN: 16648714 ISBN: 9782889452521 Year: Pages: 122 DOI: 10.3389/978-2-88945-252-1 Language: English
Publisher: Frontiers Media SA
Subject: Science (General) --- Therapeutics
Added to DOAB on : 2018-02-27 16:16:44
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The next frontier in pharmacology is the development of multi-target strategies in which pathological processes are controlled by pharmacologically manipulating them at many different points at once. Designing multi-target strategies will require deep understanding of the complex physiology that underlies pathological processes. It will also require the development of single drugs with multiple targets, or combinations of drugs with compatible pharmacokinetics that work synergistically to maximize desirable effects while minimizing unwanted side effects. This e-Book contains ten original articles, each addressing a different aspect of this challenge. Together they open new perspectives and show the way forward in the development of multi-target therapeutics.

Hydrogels in Tissue Engineering

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ISBN: 9783038971214 9783038971221 Year: Pages: XII, 146 Language: Englisch
Publisher: MDPI - Multidisciplinary Digital Publishing Institute
Subject: Science (General) --- Medicine (General)
Added to DOAB on : 2018-08-24 16:21:01
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Hydrogels are the foundation of regenerative medicine as a supportive matrix for cell immobilization and growth factor delivery. The fate of implanted cells is mediated by cell-matrix interaction at multiple scales and timed-release of growth factors to guide the differentiation and maturation of cells. Recently, there has been great interest in hydrogels with a hierarchical structure that mimics the complex interaction of cells with a microenvironment that can locally release growth factors to specific cells. Related topics in this Special Issue include hydrogels with a hierarchical structure; hybrid, degradable, and load-bearing hydrogels; hydrogels for cell encapsulation, micro-patterning, microfluidic devices, biofabrication, and high-throughput screening; and hydrogels that modulate the body’s immune response.

Microbial Exopolysaccharides: From Genes to Applications

Authors: --- --- ---
Book Series: Frontiers Research Topics ISSN: 16648714 ISBN: 9782889198436 Year: Pages: 161 DOI: 10.3389/978-2-88919-843-6 Language: English
Publisher: Frontiers Media SA
Subject: Microbiology --- Science (General)
Added to DOAB on : 2016-01-19 14:05:46
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Microbial polysaccharides represent an attractive alternative to those from plants or macro algae. They can be produced from renewable sources including lignocellulosic waste streams. Their production does not depend on geographical constraints and/or seasonal limitations. Additionally the manipulation of biosynthetic pathways to enhance productivity or to influence the chemi-cal polysaccharide composition is comparatively easy in bacteria. Microbial exopolysaccharides represents a valuable resource of biogenic and biodegradable polymers, suitable to replace petro based polymers in various technical applications. Furthermore, biocompatible exopolysaccha-rides are very attractive in medical applications, such as drug delivery systems, use as vaccines or nanoparticles. This research topic will depict the status quo, as well as the future needs in the field of EPS and biofilm research. Starting from the unexplored diversity of microbial polysaccharide producers to production processes and possibilities for modifications, to enhance the already high number of functionalities based on the chemical structures. An overview of the recent and future applications will be given, and the necessity in unravelling the biosynthesis of microbial exopolysaccharide producers is depicted, highlighting the future trend of tailor made polymers. Constraints in structure analysis of these highly complex biogenic polymers are described and different approaches to solve the restrictions in imaging and NMR analysis will be given. Therefore; this research topic comprises the whole process from genes to applications.

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