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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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Abstract

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.

Towards Mechanism-based Treatments for Fragile X Syndrome

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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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eng (3)


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2019 (3)