Diagnosis and management of glutaric aciduria type I – revised recommendations

Glutaric aciduria type I (synonym, glutaric acidemia type I) is a rare organic aciduria. Untreated patients characteristically develop dystonia during infancy resulting in a high morbidity and mortality. The neuropathological correlate is striatal injury which results from encephalopathic crises precipitated by infectious diseases, immunizations and surgery during a finite period of brain development, or develops insidiously without clinically apparent crises. Glutaric aciduria type I is caused by inherited deficiency of glutaryl-CoA dehydrogenase which is involved in the catabolic pathways of L-lysine, L-hydroxylysine and L-tryptophan. This defect gives rise to elevated glutaric acid, 3-hydroxyglutaric acid, glutaconic acid, and glutarylcarnitine which can be detected by gas chromatography/mass spectrometry (organic acids) or tandem mass spectrometry (acylcarnitines). Glutaric aciduria type I is included in the panel of diseases that are identified by expanded newborn screening in some countries. It has been shown that in the majority of neonatally diagnosed patients striatal injury can be prevented by combined metabolic treatment. Metabolic treatment that includes a low lysine diet, carnitine supplementation and intensified emergency treatment during acute episodes of intercurrent illness should be introduced and monitored by an experienced interdisciplinary team. However, initiation of treatment after the onset of symptoms is generally not effective in preventing permanent damage. Secondary dystonia is often difficult to treat, and the efficacy of available drugs cannot be predicted precisely in individual patients. The major aim of this revision is to re-evaluate the previous diagnostic and therapeutic recommendations for patients with this disease and incorporate new research findings into the guideline

European sourcebook of crime and criminal justice statistics – 2021

This is the sixth edition of a data collection initiative that started in 1993 under the umbrella of the Council of Europe and has been continued since 2000 by an international group of experts that created the European Sourcebook of Criminal Justice e.V.1 and is also a Working Group of the European Society of Criminology. These experts act as regional coordinators of a network of national correspondents whose contribution has been decisive in collecting and validating data on a variety of subjects from 42 countries.2 This edition of the Sourcebook is composed of six chapters. The first five cover the current main types of national crime and criminal justice statistics – police, prosecution, conviction, prison, and probation statistics – for the years 2011 to 2016, providing detailed analysis for 2015. The sixth chapter covers national victimization surveys, providing rates for the main indicators every five years from 1990 to 2015. As with every new edition of the Sourcebook, the group has tried to improve data quality as well as comparability and, where appropriate, increase the scope of data collection. For example, offence definitions were updated to reflect the lessons learned from previous editions.peer-reviewe

Invasive inflammatory pseudotumor of the pelvis: A case report with review of the literature

Inflammatory pseudotumor (IPT) is a rare benign lesion of unknown etiology, which mimics malignant neoplasm and may arise from various organs. A 53-year-old woman was submitted to diagnostic evaluation because of bilateral, hydroureteronephrosis and oedema of the left leg after a 3-month history of fever of unknown origin. On bimanual vaginal and rectal examination, a mass was involving the uterus, parametria and mostly left adnexa, while the cervix appeared normal. Computed tomographic (CT) scan revealed a 13x10.5 cm mass in the pelvis, mostly at the place of the left adnexa, uterus and both parametria, also involving the surrounding tissues and producing bilateral hydroureteronephrosis. At laparotomy, a grey solid mass was seen, mainly involving the reproductive system. As no radical operation could be performed, the mass was only biopsied and histology showed an inflammatory pseudotumor. Antibiotic therapy was given for one month. Follow-up CT4 and 8 months after laparotomy showed local regression of IPT The last follow-up CT, 20 months after laparotomy, revealed no evidence of tumor. © 2009 Zerbinis Medical Publications

The role of surface defects in HOPG on the electrochemical and physical deposition of Ag

The role of defects on a substrate surface during the initial stages of nucleation and growth of Ag deposited electrochemically and physically on highly oriented pyrolytic graphite (HOPG) has been observed ex situ by scanning tunneling microscopy (STM). The silver was electrodeposited under current controlled electrochemical conditions at 26 µA/cm2, which corresponded to a deposition rate of 0.1 monolayers (ML) per second. For comparison, physical deposition of Ag on HOPG was performed by DC Ar+ ion sputtering, at the same deposition rate and for the same deposition times. In both cases, Ag grows in an island growth mode, but the distribution of the islands appears to be quite different. In physical deposition, the Ag islands are almost homogeneously distributed over the substrate surface and a slight accumulation of islands on steps does not contribute significantly to the overall morphology. This indicates the crucial role of point defects on the substrate in the initial stages of nucleation. In electrochemical deposition, more lined defects are observed after a flow of current, and their role in the beginning of the nucleation is more pronounced. Lined defects are responsible for the string-like shaped domains of deposited atoms. Also, the existence of string-like shaped nucleation exclusion zones is indicated. The problem of the formation of nucleation exclusion zones, which appear only in electrochemical deposition, has been reconsidered and a new explanaton of their formation is given. A mathematical model for the calculation of the radius of the nucleation exclusion zone has been developed

Origin of photocatalytic activity enhancement in Pd/Pt-deposited anatase N-TiO2- experimental insights and DFT study of the (001) surface

ABSTRACT: In pursuit of the ideal photocatalyst, cheap and stable semiconductor TiO(2)is considered to be a good choice if one is able to reduce its band gap and decrease the recombination rate of charge carriers. The approach that offers such improvements for energy conversion applications is the modification of TiO(2)with nitrogen and noble metals. However, the origin of these improvements and possibilities for further design of single-atom catalysts are not always straightforward. To shed light on the atomic-scale picture, we modeled the nitrogen-doped (001) anatase TiO(2)surface as a support for palladium and platinum single-atom deposition. The thermodynamics of various synthesis routes for Pd/Pt deposition and nitrogen doping is considered based on density functional theory (DFT)-calculated energies, highlighting the effect of nitrogen doping on metal dimer formation and metal-support interaction. XPS analysis of the valence band of the modified TiO(2)nanocrystals, and the calculated charge transfer and electronic structure of single-atom catalysts supported on the (001) anatase TiO(2)surface provide an insight into modifications occurring in the valence zone of TiO(2)due to nitrogen doping and Pd/Pt deposition at the surface. DFT results also show that substitutional nitrogen doping significantly increases metal-support interaction, while interstitial nitrogen doping promotes only Pt-support interaction.info:eu-repo/semantics/publishedVersio