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Chapter 3 ‘Ordering the infant’ (Book chapter)

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Book Series: Social Histories of Medicine ISBN: 9781526113498 Year: Pages: 24 Language: English
Publisher: Manchester University Press Grant: Wellcome Trust
Subject: Medicine (General) --- History --- Languages and Literatures
Added to DOAB on : 2017-08-10 11:02:10
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This chapter focuses on the specific forms of health care given to newborn babies in early modern England, a hitherto almost entirely neglected category in histories of health. Drawing on printed health advice and correspondence the chapter charts the various stages of the care offered to newborns, which was based on very specific management of the six non-naturals appropriate to their uniquely hot, damp constitutions, and fragile, malleable bodies. This care was determined particularly by attentive observation and physical ‘searching’ of the body. It was crucial to ensure first that all forms of ‘excretion’ were possible: whether via the mouth or the anal passage; whether excreting excessive moisture from the throat, stomach and brain through crying or removing excrements from the skin through wiping and bathing. Gentle forms of exercise were necessary and procured through crying, bathing or gentle rubbing of the skin. Excessive crying however endangered its health and carers were given advice on calming and soothing babies whilst sleep was of utmost importance, not only in terms of duration but also the baby’s position whilst sleeping.

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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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.

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.

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: 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

Diagnosis and Management of Pediatric Diseases

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ISBN: 9783039219667 / 9783039219674 Year: Pages: 146 DOI: 10.3390/books978-3-03921-967-4 Language: eng
Publisher: MDPI - Multidisciplinary Digital Publishing Institute
Subject: Medicine (General)
Added to DOAB on : 2020-01-07 09:08:26
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A screenshot of some the most rapidly evolving fields in Neonatology and Pediatrics with articles reviewing some metabolic dysregulations as well as non-oncologic diseases that may occur in infancy, childhood, youth. The illustrative material with original photographs and drawings highlighting some pathogenetic concepts are keystones of this book.

Probiotics and Prebiotics in Pediatrics

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ISBN: 9783038979500 / 9783038979517 Year: Pages: 258 DOI: 10.3390/books978-3-03897-951-7 Language: eng
Publisher: MDPI - Multidisciplinary Digital Publishing Institute
Subject: Medicine (General) --- Pediatrics
Added to DOAB on : 2019-06-26 08:44:06
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The goal of this Special Issue, “Probiotics and Prebiotics in Pediatrics”, is to focus on the importance of pediatric nutrition with probiotics and prebiotics to improve gastrointestinal health in newborn, infants, and children.Specifically, the aim is to clarify if probiotics and prebiotics can influence gut microbiota composition and host-interaction favoring human health and preventing diseases.This new information will provide health care professionals with a widespread, clear and update evidence on probiotics and prebiotics and intestinal gut microbiota in pediatric care.

Keywords

acute diarrhea --- children --- Bacillus clausii --- efficacy --- randomized controlled trials --- breast feeding --- formula feeding --- human milk oligosaccharide --- 2?-fucosyllactose --- Lacto-N-neotetraose --- microbiota --- bifidobacteria --- acute gastroenteritis --- children --- Lactobacillus reuteri --- oral rehydration solution --- probiotics --- zinc --- probiotics --- allergy --- infants --- pediatrics --- human milk oligosaccharides --- human milk --- infant formula --- necrotizing enterocolitis --- preterm infant --- preterm infant --- probiotic --- human milk --- probiotic strain --- safety --- fecal microbiota --- protein hydrolyzed formulas --- cow’s milk protein --- tolerance acquisition --- non-IgE mediated allergy --- microbiome --- intestinal microbiota --- microbial programming --- nutritional programming --- allergy --- prevention --- neonatal --- preterm --- breast milk --- oligosaccharides --- diversity --- necrotizing enterocolitis --- sepsis --- growth --- constipation --- prebiotic --- intestinal transit time --- infant --- Bifidobacterium --- Lactobacillus --- probiotics --- asthma --- Childhood Asthma Control Test --- peak expiratory flow rate --- immunoglobulin E --- “Probiotics”[Mesh] --- “Pregnancy”[Mesh] --- “Infant, Newborn”[Mesh] --- Bifidobacterium breve --- probiotics --- paediatrics --- therapeutic microbiology --- celiac disease --- iron deficiency anemia --- gluten-free diet --- inulin --- prebiotics --- iron absorption --- hepcidin --- probiotics --- microbiota --- celiac disease --- gluten free diet --- probiotics --- functional gastrointestinal disorders --- functional abdominal pain disorders --- functional constipation --- infantile colic --- infant --- colic --- lactobacilli --- n/a --- fecal microbiota --- protein hydrolyzed formulas --- cow’s milk protein --- tolerance acquisition --- non-IgE mediated allergy --- n/a

Towards Mechanism-based Treatments for Fragile X Syndrome

Authors: ---
ISBN: 9783039215058 / 9783039215065 Year: Pages: 250 DOI: 10.3390/books978-3-03921-506-5 Language: eng
Publisher: MDPI - Multidisciplinary Digital Publishing Institute
Subject: Science (General) --- Biology
Added to DOAB on : 2019-12-09 11:49:15
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It has been more than 25 years since the identification of the FMR1 gene and the demonstration of the causative role of CGG-repeat expansion in the disease pathology of fragile X syndrome (FXS), but the underlying mechanisms involved in the expansion mutation and the resulting gene silencing still remain elusive. Our understanding of the pathways impacted by the loss of FMRP function has grown tremendously, and has opened new avenues for targeted treatments for FXS. However, the failure of recent clinical trials that were based on successful preclinical studies using the Fmr1 knockout mouse model has forced the scientific community to revisit clinical trial design and identify objective outcome measures. There has also been a renewed interest in restoring FMR1 gene expression as a possible treatment approach for FXS. This special issue of Brain Sciences highlights the progress that has been made towards understanding the disease mechanisms and how this has informed the development of treatment strategies that are being explored for FXS.

Keywords

fragile X syndrome --- clinical trials --- targeted treatments --- drug development --- fragile X syndrome --- clinical trials --- treatment development --- best practices --- fragile X syndrome --- newborn screening --- early identification --- fragile X syndrome --- X chromosome --- females --- FMR1 --- anxiety --- avoidance --- cognition --- behavior --- brain --- Fragile X --- FMRP --- Fxr2 --- Fmr1 --- fragile X syndrome --- executive function --- working memory --- set-shifting --- cognitive flexibility --- inhibitory control --- attention --- planning --- processing speed --- Fragile X syndrome 1 --- Fragile X-associated Tremor/Ataxia Syndrome 2 --- CRISPR 3 --- Trinucleotide Repeat 4 --- Gene editing --- fragile X syndrome --- FMR1 gene --- voice of the person --- voice of the patient --- characteristics that have the greatest impact --- developmental disorders --- fragile X syndrome --- language development --- automated vocal analysis --- adeno-associated virus --- autism spectrum disorders --- cerebral spinal fluid --- fragile X mental retardation protein --- neurodevelopmental disorders --- viral vector --- fragile X syndrome --- gene reactivation --- RNA:DNA hybrid --- FMRP --- histone methylation --- DNA methylation --- FMR1 --- PRC2 --- fragile X syndrome --- unstable repeat diseases --- epigenetic gene silencing --- DNA methylation --- repeat instability --- pluripotent stem cells --- CGG Repeat Expansion Disease --- DNA instability --- expansion --- contraction --- mismatch repair (MMR) --- base excision repair (BER) --- transcription coupled repair (TCR) --- double-strand break repair (DSBR) --- Non-homologous end-joining (NHEJ) --- mosaicism --- protein synthesis --- Fragile X Syndrome --- biomarker --- iPSC --- fibroblast --- lymphoblast --- fragile X syndrome --- molecular biomarkers --- FMR1 --- FMRP --- intellectual disability --- Fmr1 KO mouse --- ASD --- n/a

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