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Collaborative Evaluation Study on 18 Candidate Diseases for Newborn Screening in 1.77 Million Samples
Abstract: Analytical and therapeutic innovations led to a continuous but variable extension of newborn screening (NBS) programmes worldwide. Every extension requires a careful evaluation of feasibility, diagnostic (process) quality and possible health benefits to balance benefits and limitations. The aim of this study was to evaluate the suitability of 18 candidate diseases for inclusion in NBS programmes. Utilising tandem mass spectrometry as well as establishing specific diagnostic pathways with second-tier analyses, three German NBS centres designed and conducted an evaluation study for 18 candidate diseases, all of them inherited metabolic diseases. In total, 1 777 264 NBS samples were a...
Molecular Based Newborn Screening in Germany: Follow-up for Cystinosis
Abstract: Background Newborn screening (NBS) programs for treatable metabolic disorders have been enormously successful, but molecular-based screening has not been broadly implemented so far. Methods This prospective pilot study was performed within the German NBS framework. DNA, extracted from dried blood cards was collected as part of the regular NBS program. As cystinosis has a prevalence of only 1:100,000-1:200,000, a molecular genetic assay for detection of the SMN1 gene mutation with a higher prevalence was also included in the screening process, a genetic defect that leads to spinal muscular atrophy (SMA). First tier multiplex PCR was employed for both diseases. The cystinosis screeni...
Hereditary Tyrosinemia
Hereditary tyrosinemia type 1 (HT1), the most severe inborn error of the tyrosine degradation pathway, is due to a deficiency in fumarylacetoacetate hydrolase (FAH). The worldwide frequency of HT1 is one per 100,000 births, but some regions have a significantly higher incidence (1:1,800). The FAH defect results in the accumulation of toxic metabolites, mainly in the liver. If left untreated, HT1 is usually fatal before the age of two. HT1 patients develop several chronic complications including cirrhosis with a high risk of hepatocellular carcinoma (HCC) and neuropsychological impairment. Treatment comprises an inhibitor of the pathway, Nitisinone, a strict dietary treatment or liver transplantation. Early treatment is important to avoid HCC. The book includes the latest developments on the molecular basis of HT1, its pathology, screening and diagnosis and management of the disease written by leading scientists, geneticists, hepatologists and clinicians in the field.
JIMD Reports - Case and Research Reports, Volume 13
JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.
Aufgeben ist keine Option!
Aufgeben ist keine Option! Wer ändern will, findet Wege, wer das nicht will, findet Ausreden. Die Frauen in diesen sieben Geschichten gehören nicht zur zweiten Kategorie. Sie wollen ihre Probleme lösen, auch wenn sie zunächst unlösbar erscheinen und auch die ersten Versuche nicht immer erfolgreich sind. Egal, ob es um neue Jobs, ein neues Geschäft, den Mann fürs Leben oder ein prickelndes Abenteuer geht, die Frauen geben nicht auf. Und wenn zu den eigenen Anstrengungen noch etwas zauberhafte Hilfe kommt, dann gelingt vieles, sogar ein neues Leben.
