A COMPREHENSIVE MULTIPLEX PCR BASED EXOME-SEQUENCING ASSAY FOR RAPID BLOODSPOT CONFIRMATION OF INBORN ERRORS OF METABOLISM

A comprehensive multiplex PCR based exome-sequencing assay for rapid bloodspot confirmation of inborn errors of metabolism

Abstract Background Tandem mass spectrometry (MS MS) and simple fluorometric assays are currently used in newborn screening programs to detect inborn errors of metabolism (IEM).The aim of the study was to evaluate the clinical utility of exome sequencing as a second tier screening method to assist clinical diagnosis of the newborn.Methods A novel P

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Present and future European heat wave magnitudes: climatologies, trends, and their associated uncertainties in GCM-RCM model chains

This study investigates present and future European heat wave magnitudes, represented by the Heat Wave Magnitude Index-daily (HWMId), for regional climate models (RCMs) and the driving global climate models (GCMs) over Europe.A subset of the large EURO-CORDEX ensemble is employed to study sources of uncertainties related to the choice of GCMs, RCMs

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Sidero-Siliko Tuberkulosis pada Penderita Efusi Pleura Masif Dekstra yang Awalnya Dicurigai Keganasan [Malignant Suspicion of Massive Pleural Effusion in Sidero-Silico Tuberculosis Patient]

Background: Pneumoconiosis defined as the accumulation of dust in the lungs and causes tissue reactions to mineral materials from various industries that affect the respiratory system.Among the causes of pneumoconiosis are silica dust (silicosis) and iron dust (ciderosis).Pneumoconiosis provides a pathological reaction in lung tissue due to inhaled

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