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Forty Years of Heel Prick Screening in the Netherlands

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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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Abstract

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.

Newborn Screening for Sickle Cell Disease and other Haemoglobinopathies

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ISBN: 9783039216147 / 9783039216154 Year: Pages: 162 DOI: 10.3390/books978-3-03921-615-4 Language: eng
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

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: eng
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.

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