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Scooped by
HAS-veille
May 15, 2019 9:32 AM
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Background:Detection of cytomegalovirus (CMV) DNA by real-time polymerase chain reaction (rt-PCR) in dried blood spots (DBSs) collected for newborn screening has been assessed for retrospective diagnosis of congenital CMV (cCMV) infection, with variable results (sensitivities ranging from 34% to 100
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Scooped by
HAS-veille
May 7, 2019 11:16 AM
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médecine/sciences (M/S), revue internationale dans le domaine de la recherche biologique, médicale et en santé
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Scooped by
HAS-veille
May 7, 2019 11:12 AM
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As genomic sequencing become more efficient and cost‐effective, the number of conditions identified through newborn screening globally is set to dramatically increase. Haemophilia is a candidate condition; however, very little is known about th
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Scooped by
HAS-veille
April 29, 2019 8:33 AM
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In the era of newborn screening (NBS) for severe combined immunodeficiency (SCID) and the possibility of gene therapy (GT), it is important to link SCID phenotype to the underlying genetic disease. In western countries, X-linked interleukin 2 recepto
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Scooped by
HAS-veille
April 24, 2019 7:20 AM
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Severe combined immunodeficiency (SCID) is a condition that often results in severe infections and death at young age. Early detection shortly after birth, followed by treatment befor
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Scooped by
HAS-veille
April 24, 2019 4:27 AM
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(2019). A model-based economic evaluation of four newborn screening strategies for cystic fibrosis in Flanders, Belgium. Acta Clinica Belgica. Ahead of Print.
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Scooped by
HAS-veille
April 10, 2019 4:44 AM
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Newborn screening for cystic fibrosis (CF) has become a widely accepted and endorsed public health strategy in economically developed countries, altho…
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Scooped by
HAS-veille
April 10, 2019 4:39 AM
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Scooped by
HAS-veille
April 3, 2019 10:34 AM
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International Journal of Neonatal Screening, an international, peer-reviewed Open Access journal.
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Scooped by
HAS-veille
April 2, 2019 11:45 AM
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Objectives The objective of this study was to identify maternal and provider predictors of newborn screening (NBS) refusal in North Dakota between 2011 and 2014. MethodsRecords of 40,44
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Scooped by
HAS-veille
March 27, 2019 5:43 AM
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As of 2018, all 50 US states and the District of Columbia have implemented mandatory or voluntary screening for critical congenital heart disease (CCHD) in newb
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Scooped by
HAS-veille
March 22, 2019 3:57 AM
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Scooped by
HAS-veille
March 11, 2019 9:25 AM
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Expanded newborn screening of inborn errors of metabolism (IEM) based on tandem mass spectrometry (MS/MS) technology is one of the most successful preventative healthcare initiative
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Scooped by
HAS-veille
May 13, 2019 7:59 AM
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Scooped by
HAS-veille
May 7, 2019 11:13 AM
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Abstract Background The aetiology, course and most appropriate management of borderline congenital hypothyroidism (CH) are poorly defined, such that the optimal threshold for diagnosis wit
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Scooped by
HAS-veille
April 30, 2019 11:51 AM
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Approval was recently granted for a new treatment for spinal muscular atrophy (SMA). Given that the treatment is effective when administered early and…
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Scooped by
HAS-veille
April 29, 2019 7:39 AM
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Patients with glucose-6-phosphate dehydrogenase deficiency might develop acute hemolytic anemia, chronic hemolytic anemia, and neonatal hyperbilirubin…
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Scooped by
HAS-veille
April 24, 2019 7:18 AM
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Scooped by
HAS-veille
April 10, 2019 4:46 AM
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Scooped by
HAS-veille
April 10, 2019 4:42 AM
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All worldwide newborn screening (NBS) for lysosomal storage diseases (LSDs) is performed as a first-tier test by measurement of lysosomal enzymatic activities in dried blood spots (DBS). The currently two available methodologies used for measurement of enzymatic activities are tandem mass spectrometry (MS/MS) and digital microfluidics fluorimetry (DMF-F). In this chapter we summarize the workflows for the two platforms. Neither platform is fully automated, but the relative ease of workflow will be dependent upon the specific operation of each newborn screening laboratory on a case-by-case basis. We provide the screen positive rate (the number of below cutoff newborns per 100,000 newborns) from all NBS laboratories worldwide carrying out MS/MS-based NBS of one or more LSDs. The analytical precision of the MS/MS method is higher than that for DMF-F as shown by analysis of a common set of quality control DBS by the Centers for Disease Control and Prevention (CDC). Both the MS/MS and DMF-F platforms enable multiplexing of the LSD enzymes. An advantage of MS/MS over DMF-F is the ability to include assays of enzymatic activities and biomarkers for which no fluorimetric methods exist. Advantages of DMF-F over MS/MS are: (1) simple to use technology with same-day turn-around time for the lysosomal enzymes with the fastest rates compared to MS/MS requiring overnight analytical runs.; (2) the DMF-F instrumentation, because of its simplicity, requires less maintenance than the MS/MS platform.
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Scooped by
HAS-veille
April 8, 2019 7:40 AM
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Scooped by
HAS-veille
April 3, 2019 10:31 AM
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The history of newborn screening (NBS) for sickle cell disease (SCD) in Europe goes back almost 40 years. However, most European countries have not established it to date. The European screening map is surprisingly heterogenous. The first countries to introduce sickle cell screening on a national scale were France and England. The French West Indies started to screen their newborns for SCD as early as 1983/84. To this day, all countries of the United Kingdom of Great Britain and Northern Ireland have added SCD as a target disease to their NBS programs. The Netherlands, Spain and Malta also have national programs. Belgium screens regionally in the Brussels and Liège regions, Ireland has been running a pilot for many years that has become quasi-official. However, the Belgian and Irish programs are not publicly funded. Italy and Germany have completed several pilot studies but are still in the preparatory phase of national NBS programs for SCD, although both countries have well-established concepts for metabolic and endocrine disorders. This article will give a brief overview of the situation in Europe and put a focus on the programs of the two pioneers of the continent, England and France.
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Scooped by
HAS-veille
April 1, 2019 9:56 AM
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Background:Hunter syndrome, or mucopolysaccharidosis type II (MPS II), is a lysosomal storage disease that affects the breakdown of sugar in the body. Research has made it possible to reveal the cause of the disease, thus helping diagnose and treating this rare disorder. Enzyme replacement therapy w
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Scooped by
HAS-veille
March 27, 2019 5:34 AM
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Background Advances in treatment for Duchenne muscular dystrophy (DMD) and spinal muscular atrophy (SMA) hold promise for children with these disorders. Accurate genetic diagnosis, early i
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Scooped by
HAS-veille
March 13, 2019 10:51 AM
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Severe combined immunodeficiency (SCID) is a condition that often results in severe infections and death at young age. Early detection shortly after birth, followed by treatment befor
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