Incidence and Health Related Quality of Life of Opioid-Induced Constipation in Chronic Noncancer Pain Patients: A Prospective Multicentre Cohort Study

High rates of opioid use for chronic noncancer pain (CNCP) have been reported worldwide, despite its association with adverse events, inappropriate use, and limited analgesic effect. Opioid-induced constipation (OIC) is the most prevalent and disabling adverse effect associated with opioid therapy. Our aim was to assess the incidence, health related quality of life (HRQOL), and disability in OIC patients.This work was supported by intramural funds from the Chair on Pain Medicine of the Faculty of Medicine, University of Porto, and by projects “Porto Neurosciences and Neurologic Disease Research Initiative at i3S” (NORTE-01-0145-FEDER-000008) and “NanoSTIMA” (NORTE-01-0145-FEDER-000016), which are financed by the North Portugal Regional Operational Programme (NORTE 2020), under the Portugal 2020 Partnership Agreement, and through the European Regional Development Fund (ERDF).info:eu-repo/semantics/publishedVersio

Genetic variability of the functional domains of chromodomains helicase DNA-binding (CHD) proteins

In the past few years, there has been an increasing neuroscientific interest in understanding the function of mammalian chromodomains helicase DNA-binding (CHD) proteins due to their association with severe developmental syndromes. Mammalian CHDs include nine members (CHD1 to CHD9), grouped into subfamilies according to the presence of specific functional domains, generally highly conserved in evolutionary terms. Mutations affecting these domains hold great potential to disrupt protein function, leading to meaningful pathogenic scenarios, such as embryonic defects incompatible with life. Here, we analysed the evolution of CHD proteins by performing a comparative study of the functional domains of CHD proteins between orthologous and paralogous protein sequences. Our findings show that the highest degree of inter-species conservation was observed at Group II (CHD3, CHD4, and CHD5) and that most of the pathological variations documented in humans involve amino acid residues that are conserved not only between species but also between paralogs. The parallel analysis of both orthologous and paralogous proteins, in cases where gene duplications have occurred, provided extra information showing patterns of flexibility as well as interchangeability between amino acid positions. This added complexity needs to be considered when the impact of novel mutations is assessed in terms of evolutionary conservation.This research was funded by FEDER—Fundo Europeu de Desenvolvimento Regional funds through the COMPETE 2020—Operacional Programme for Competitiveness and Internationalization (POCI), Portugal 2020, and by Portuguese funding through FCT—Fundação para a Ciência e a Tec-nologia, within the framework of the Project POCI-01–0145-FEDER-007274 to i3S and by FCT research project POCI-01–0145-FEDER-29723. ARC holds a FCT PhD Fellowship (SFRH/BD/141702/2018)

Sport practice and plantar pressure in children aged 10–18 years: evaluation using Namrol® Podoprint®

Abstract in proceedings of the Fourth International Congress of CiiEM: Health, Well-Being and Ageing in the 21st Century, held at Egas Moniz’ University Campus in Monte de Caparica, Almada, from 3–5 June 2019.This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.info:eu-repo/semantics/publishedVersio

Essential genetic findings in neurodevelopmental disorders

Neurodevelopmental disorders (NDDs) represent a growing medical challenge in modern societies. Ever-increasing sophisticated diagnostic tools have been continuously revealing a remarkably complex architecture that embraces genetic mutations of distinct types (chromosomal rearrangements, copy number variants, small indels, and nucleotide substitutions) with distinct frequencies in the population (common, rare, de novo). Such a network of interacting players creates difficulties in establishing rigorous genotype-phenotype correlations. Furthermore, individual lifestyles may also contribute to the severity of the symptoms fueling a large spectrum of gene-environment interactions that have a key role on the relationships between genotypes and phenotypes.Herein, a review of the genetic discoveries related to NDDs is presented with the aim to provide useful general information for the medical community.This work was financed by FEDER - Fundo Europeu de Desenvolvimento Regional funds through the COMPETE 2020 - Operacional Programme for Competitiveness and Internationalization (POCI), Portugal 2020, and by Portuguese funds through FCT - Fundação para a Ciência e a Tecnologia, in the framework of the project POCI-01-0145-FEDER-007274 to i3S and UID/ BIM/04501/2013 and UID/BIM/04501/2019 to iBiMED, as well as by national funds (OE), through FCT, in the scope of the framework contract foreseen in the numbers 4, 5, and 6 of the article 23, of the Decree-Law 57/2016, of August 29, changed by Law 57/2017, of July 19 to RMS, and by FCT research project POCI-01-0145-FEDER-29723. ARC and CS hold FCT PhD fellowships (SFRH/BD/141702/2018-ARC and SFRH/BD/137925/2018-CS). Funders had no role in the design, collection, analysis, interpretation of the data, and writing of the manuscript

Energy-lowering and constant-energy spin flips : emergence of the percolating cluster in the kinetic Ising model

After a sudden quench from the disordered high-temperature T0 → ∞ phase to a final temperature well below the critical point TF Tc, the nonconserved order parameter dynamics of the two-dimensional ferromagnetic Ising model on a square lattice initially approaches the critical percolation state before entering the coarsening regime. This approach involves two timescales associated with the first appearance (at time tp1 > 0) and stabilization (at time tp > tp1 ) of a giant percolation cluster, as previously reported. However, the microscopic mechanisms that control such timescales are not yet fully understood. In this paper, to study their role on each time regime after the quench (TF = 0), we distinguish between spin flips that decrease the total energy of the system from those that keep it constant, the latter being parametrized by the probability p. We show that observables such as the cluster size heterogeneity H(t, p) and the typical domain size (t, p) have no dependence on p in the first time regime up to tp1 . Furthermore, when energy-decreasing flips are forbidden while allowing constant-energy flips, the kinetics is essentially frozen after the quench and there is no percolation event whatsoever. Taken together, these results indicate that the emergence of the first percolating cluster at tp1 is completely driven by energy decreasing flips. However, the time for stabilizing a percolating cluster is controlled by the acceptance probability of constant-energy flips: tp(p) ∼ p−1 for p 1 (at p = 0, the dynamics gets stuck in a metastable state). These flips are also the relevant ones in the later coarsening regime where dynamical scaling takes place. Because the phenomenology on the approach to the percolation point seems to be shared by many 2D systems with a nonconserved order parameter dynamics (and certain cases of conserved ones as well), our results may suggest a simple and eff Because the phenomenology on the approach to the percolation point seems to be shared by many 2D systems with a nonconserved order parameter dynamics (and certain cases of conserved ones as well), our results may suggest a simple and effective way to set, through the dynamics itself, tp1 and tp in such systems

SLC35A2-CDG: Novel variant and review

SLC35A2 encodes the X-linked transporter that carries uridine diphosphate (UDP)-galactose from the cytosol to the lumen of the Golgi apparatus and the endoplasmic reticulum. Pathogenic variants have been associated to a congenital disorder of glycosylation (CDG) with epileptic encephalopathy as a predominant feature. Among the sixty five patients described so far, a strong gender bias is observed as only seven patients are males. This work is a review and reports a SLC35A2-CDG in a male without epilepsy and with growth deficiency associated with decreased serum IGF1, minor neurological involvement, minor facial dysmorphism, and camptodactyly of fingers and toes. Sequence analysis revealed a hemizygosity for a novel de novo variant: c.233A > G (p.Lys78Arg) in SLC35A2. Further analysis of SLC35A2 sequence by comparing both orthologous and paralogous positions, revealed that not only the variant found in this study, but also most of the reported mutated positions are conserved in SLC35A2 orthologous, and many even in the paralogous SLC35A1 and SLC35A3. This is strong evidence that replacements at these positions will have a critical pathological effect and may also explain the gender bias observed among SLC35A2-CDG patients.This work is supported by National Funds through the Fundação para a Ciência e a Tecnologia (Portuguese national funding agency for science, research and technology) in the frameworks of the UID/Multi/00215/2013 project–Unit for Multidisciplinary Research in Biomedicine–UMIB/ICB AS/UP

Оценка степени ухудшения отношения сигнал/шум монокристаллическими экранами

A new approach to gas leakage detection in high pressure distribution networks is proposed, where the pipeline is modelled as a Linear Parameter Varying (LPV) System driven by the source node mass flow with the pressure as the scheduling parameter, and the system output as the mass flow at the offtake. Using a recently proposed successive approximations LPV system subspace identification algorithm, the pipeline is thus identified from operational data. The leak is detected using a Kalman filter where the fault is treated as an augmented state. The effectiveness of this method is illustrated with an example with a mixture of real and simulated data