Relevance of Next-Generation Sequencing in the Diagnosis of Thalassemia and Hemoglobinopathies: The Experience of Four Italian Diagnostic Hubs.

Unlabelled: Thalassemias and hemoglobinopathies are among the most common genetic diseases worldwide and have a significant impact on public health. The decreasing cost of next-generation sequencing (NGS) has quickly enabled the development of new assays that allow for the simultaneous analysis of small nucleotide variants (SNVs) and copy number variants (CNVs) as deletions/duplications of α- and β-globin genes.

Background/objectives: This study highlighted the efficacy and rapid identification of all types of mutations in the α- and β-globin genes, including silent variants, using the Devyser Thalassemia NGS kit.

Efficient Production of Recombinant Human Brain-Derived Neurotrophic Factor in Through the Engineering of Its Pro-Region.

Thus far, no manufacturing process able to support industrialization has been reported for the recombinant human brain-derived neurotrophic factor (rhBDNF). Here, we described the setup of a new protocol for its production in () and its purification to homogeneity. A synthetic gene, codifying for the neurotrophin precursor, was inserted into an expression vector and transformed into BL21 (DE3) strain.

Exploring the Accuracy of Interferometric Quantum Measurements under Conservation Laws.

A (target) quantum system is often measured through observations performed on a second (meter) system to which the target is coupled. In the presence of global conservation laws holding on the joint meter-target system, the Wigner-Araki-Yanase theorem and its generalizations predict a lower bound on the measurement's error (Ozawa's bound). While practically negligible for macroscopic meters, it becomes relevant for microscopic ones.