Glutaric aciduria type 1 and neonatal screening: time to proceed—with caution

The new technology of tandem mass spectrometry is having a significant impact on the diagnostics of inborn metabolic errors. One of the most important aspects of this new technology is the possibility of recognising a whole class of disorders within a single analytical step. Shall this powerful technology be applied to the screening of newborn babies? Careful evaluation of every single disorder that could potentially be identified is needed. In the following, I will present some considerations that concern glutaric aciduria type 1 (MIM 231670; glutaryl-CoA dehydrogenase deficiency

Pagamentos por serviços ambientais na Amazônia : o desvio de um conceito - casos do Amapá e Acre

Este artigo teve como objetivo apresentar as diversas formas assumidas pelos projetos de Pagamentos por Serviços Ambientais (PSA) no Brasil e analisar dois casos de PSA específicos na Amazônia: o Projeto Carbono Cajari, no sul do Amapá, e o Sistema de Incentivos por Serviços Ambientais (SISA), no Acre. A hipótese de trabalho foi que a apropriação e a reinterpretação da retórica do mercado presentes nas políticas públicas ambientais e nos dois casos em análise são indicadores das tensões presentes nos palcos regional, nacional e internacional, entre o desenvolvimento - com foco no combate à miséria - e a conservação ambiental. A metodologia utilizada foi o estudo de caso, pesquisa bibliográfica e entrevistas. O estudo nos permitiu concluir que os projetos de PSA no Brasil são utilizados mais como dispositivos de transferência de renda do que qualquer mercantilização do meio ambiente ou utilização real das ferramentas de mercado

Current themes in molecular pediatrics: molecular medicine and its applications

We focus on themes that are derived from clinical practice and research in the field of genetic diseases of bone and inborn errors of metabolism but may be of more general interest as they indicate some trends in molecular medicine as related to pediatrics. Identifying the disease-causing mechanism brings about efficient therapeutic strategies and discovering the mutant genotype in the near future may become helpful for devising custom-built molecular responses. At the same time, the transition of therapy from the experimental phase to industrial application is difficult as there may be novel roles (and potentially conflicting interests) between physicians, patient organisations, governmental agencies and the pharmaceutical industry. Awareness of these potential conflicts may help in recognizing and dealing with these issues

A Voltage Unbalance Mitigation Technique for Low-voltage Applications with Large Single-phase Loads

In this paper a voltage unbalance mitigation technique for low-voltage microgrids or feeders in presence of large single-phase loads is introduced. In order to take maximum advantage of the existing hardware, the proposed solution consists of a sequence-based decentralized voltage control to be embedded in three-phase VSC connecting distributed generation to the considered system. Furthermore, a centralized controller is proposed to define optimal negative and zero sequence voltage reference. Control effectiveness is numerically verified considering a low-voltage feeder case study

Autoinhibition of c-Abl

AbstractDespite years of investigation, the molecular mechanism responsible for regulation of the c-Abl tyrosine kinase has remained elusive. We now report inhibition of the catalytic activity of purified c-Abl in vitro, demonstrating that regulation is an intrinsic property of the molecule. We show that the interaction of the N-terminal 80 residues with the rest of the protein mediates autoregulation. This N-terminal “cap” is required to achieve and maintain inhibition, and its loss turns c-Abl into an oncogenic protein and contributes to deregulation of BCR-Abl

Infantile systemic hyalinosis presenting as multiple joint pain in a Pakistani infant girl

Poster Presentation (Doctor’s Session)This journal issue contain Proceedings of the CongressBACKGROUND: Infantile systemic hyalinosis (ISH) is a rare autosomal recessive disorder characterized by abnormal hyaline deposits in the papillary dermis and other tissues. It presents in early infancy with severe pain with movement, progressive joint contractures, thickened skin and hyperpigmented macules over bony prominence. Gingival hypertrophy, skin nodules, perianal masses are common but late findings. We report a female infant with ISH and subsequently confirmed to have known pathogenic mutations in the ANTXR2 ...postprin

Consistent circuit technique for zero-sequence currents evaluation in interconnected single/three-phase power networks

This paper deals with a rigorous and mathematically consistent technique for circuit analysis of modern electrical power systems consisting in the interconnection of three-phase components and single-phase active loads. Indeed, it is well known that the standard technique based on the symmetrical components transformation is commonly used in the analysis of symmetrical threephase systems. Nowadays, however, the evolution of power systems towards the custom power conditioning (e.g., active filtering) and the smart grid model requires the inclusion into the analytical tool of single-phase active loads. Starting from the symmetrical components transformation in its rational form instead of its classical form, a rigorous circuit representation of the interconnection of a three-phase system with single-phase active loads is derived in the paper. The proposed circuit representation allows the analysis of complex power systems by means of basic circuit techniques. In particular, the paper focuses on the evaluation of the zero-sequence component of the currents in any branch of the power system. The application of the proposed circuit technique is demonstrated through an example consisting in the analysis of an active filter designed to force to zero the current in the fourth wire of the mains

The Shigella flexneri OmpA amino acid residues 188EVQ190 are essential for the interaction with the virulence factor PhoN2

Shigella flexneri is an intracellular pathogen that deploys an arsenal of virulence factors promoting host cell invasion, intracellular multiplication and intra- and inter-cellular dissemination. We have previously reported that the interaction between apyrase (PhoN2), a periplasmic ATP-diphosphohydrolase, and the C-terminal domain of the outer membrane (OM) protein OmpA is likely required for proper IcsA exposition at the old bacterial pole and thus for full virulence expression of Shigella flexneri (Scribano et al., 2014). OmpA, that is the major OM protein of Gram-negative bacteria, is a multifaceted protein that plays many different roles both in the OM structural integrity and in the virulence of several pathogens. Here, by using yeast two-hybrid technology and by constructing an in silico 3D model of OmpA from S. flexneri 5a strain M90T, we observed that the OmpA residues 188EVQ190 are likely essential for PhoN2-OmpA interaction. The 188EVQ190 amino acids are located within a flexible region of the OmpA protein that could represent a scaffold for protein-protein interaction