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Summary: A 68‐year‐old man underwent elective surgical repair of an abdominal wall hernia under general anaesthesia. The operation required muscle relaxation, for which we used rocuronium. Following completion of surgery, 180 mg sugammadex was administered intravenously. Shortly afterwards, the patient became severely bradycardic with hypotension, refractory to treatment with ephedrine. This progressed to a pulseless electrical activity cardiac arrest. After 4 min of cardiopulmonary resuscitation, there was return of spontaneous circulation and, following a period of haemodynamic stability in which general anaesthesia was maintained, the patient emerged from anaesthesia without incident. He remained haemodynamically stable until discharge. Post‐resuscitation investigations including the serum tryptase level were unremarkable except for a mild respiratory acidosis and slightly elevated D‐dimers. Sugammadex‐induced bradycardia has previously been described, but its mechanism remains unknown. We believe that sugammadex was the cause of cardiac arrest in this case because of the timing and sequence of events, the evolution to pulseless electric activity and the relatively uneventful post‐arrest clinical course. We hope that our report will help to promote awareness about this potential complication of a now commonly‐used drug. [ABSTRACT FROM AUTHOR]

The iron(III)‐promoted synthesis of densely‐substituted 4H‐chalcogenchromene from organochalcogen propargylamines in the presence of diaryl dichalcogenides is reported. Subsequent C2‐functionalization with electrophiles and potassium trifluoroborate salts via Suzuki‐Miyaura coupling reaction are also presented. A plausible mechanism based on HRMS experiments is proposed and discussed. [ABSTRACT FROM AUTHOR]

Abstract: The discovery that pericytes are in vivo counterparts of Mesenchymal Stem/Stromal Cells (MSCs) has placed these perivascular cells in the research spotlight, bringing up hope for a well‐characterized cell source for clinical applications, alternative to poorly defined, heterogeneous MSCs preparations currently in use. Native pericytes express typical MSC markers and, after isolation by fluorescence‐activated cell sorting, display an MSC phenotype in culture. These features have been demonstrated in different species, including humans and horses, the main targets of regenerative treatments. Significant clinical potential of pericytes has been shown by transplantation of human cells into rodent models of tissue injury, and it is hoped that future studies will demonstrate clinical potential in veterinary species. Here, we provide an overview of the current knowledge on pericytes across different species including humans, companion and large animal models, in relation to their identification in different body tissues, methodology for prospective isolation, characterization, and potential for tissue regeneration. © 2017 International Society for Advancement of Cytometry [ABSTRACT FROM AUTHOR]

Urreizti R, Moya-García AA, Pino- Ángeles A, Cozar M, Langkilde A, Fanhoe U, Esteves C, Arribas J, Vilaseca MA, Pérez-Dueñas B, Pineda M, González V, Artuch R, Baldellou, A, Vilarinho L, Fowler B, Ribes A, Sánchez-Jiménez F, Grinberg D, Balcells S. Molecular characterization of five patients with homocystinuria due to severe MTHFR deficiency. Methylenetetrahydrofolate reductase (MTHFR) plays a major role in folate metabolism. Disturbed function of the enzyme results in hyperhomocysteinemia and causes severe vascular and neurological disorders and developmental delay. Five patients suspected of having non-classical homocystinuria due to MTHFR deficiency were examined with respect to their symptoms, MTHFR enzyme activity and genotypes of the MTHFR gene. All patients presented symptoms of severe central nervous system disease. Two patients died, at the ages of 15 months and 14 years. One patient is currently 32 years old, and is being treated with betaine and folinic acid. The other two patients, with an early diagnosis and a severe course of the disease, are currently improving under treatment. MTHFR enzyme activity in the fibroblasts of four of the patients was practically undetectable. We found four novel mutations, three of which were missense changes c.664G> T (p.V218L), c.1316T> C (p.F435S) and c.1733T> G (p.V574G), and the fourth was the 1-bp deletion c.1780delC (p.L590CfsX72). We also found the previously reported nonsense mutation c.1420G> T (p.E470X). All the patients were homozygous. Molecular modelling of the double mutant allele (p.V218L; p.A222V) revealed that affinity for FAD was not affected in this mutant. For the p.E470X mutation, the evidence pointed to nonsense-mediated mRNA decay. In general, genotype-phenotype analysis predicts milder outcomes for patients with missense changes than for those in which mutations led to severe alterations of the MTHFR protein. [ABSTRACT FROM AUTHOR]

In spite of the worldwide occurrence of domestic cats and dogs, and their close relationship with humans, the number of published papers on free-ranging cats Felis catus and dogs Canis familiaris, is small. The diet of both species was estimated in a suburban and rural environment in July 2002 and January 2003. Visual observations and scat collection of both species were accomplished along a 10 km transect line in the Campus ‘Luiz de Queiroz’, University of São Paulo, Piracicaba, south-eastern Brazil. The diet of both species was determined by analysis of sterilized, washed, dried and sorted scats. Estimated abundances of free-ranging cats and dogs in the sampled area were 81 (±4.32) and 42 (±2.96), respectively. Cats and dogs were more abundant in the suburban than in the rural environment ( t=3.78, P<0.001, N=55; t=8.38, P<0.001, N=55, respectively) and cats were more abundant than dogs in the suburban environment ( t=6.76, P<0.001, N=55), even though there was no significant difference between the abundance of both species in the rural environment ( t=0.82, P=0.46, N=55). Invertebrates were the most commonly consumed item by both species, followed by mammals (cats: 63.24 and 20.51%; dogs: 57.05 and 25.15%, respectively). Niche breadth was 0.4892 for cats and 0.4463 for dogs. Niche overlap was almost complete (0.97108). The consumption of mammals was estimated to be between 16.76 and 25.42 kg individual−1year−1 for dogs and between 2.01 and 2.9 kg individual−1year−1 for cats. These data might be useful to establish a management program to minimize the predation pressure of free-ranging cats and dogs on wildlife. [ABSTRACT FROM AUTHOR]

What's already known about this topic?Chromothripsis is a recently described phenomenon whereby a single catastrophic event leads to multiple chromosome breaks and subsequent repair through nonhomologous end joining. The result can present karyotypically as a complex rearrangement and occurs both congenitally and in cancer cells. What does this study add?We report, to our knowledge, the first case of congenital chromothripsis uncovered prenatally through a combination of G ‐ banded karyotype analysis and whole ‐ genome sequencing by jumping libraries. The G ‐ banded karyotype initially suggested the involvement of five chromosomes and six breakpoints. Whole ‐ genome sequencing further resolved this event to include nine total breakpoints that disrupt seven independent genes, all in the presence of a normal microarray result. This emphasizes the complementarity that whole ‐ genome sequencing can provide to the initial karyotype analysis as a reflex test when a rearrangement is detected. We also discuss the dilemma of prognosis with this finding. [ABSTRACT FROM AUTHOR]

In this work, crater formation by single 20 MeV Au ions on ultra-thin poly(methyl methacrylate) (PMMA) films was systematically investigated as a function of the thickness t of the layers (2 nm< t <100 nm). The samples were bombarded at grazing angles of incidence (79°and 84° to the surface normal) and morphological changes analyzed employing scanning force microscopy in the tapping mode. For thicknesses from 100 nm down to approximately 20 nm no major changes were observed in the size and morphology of the impact features. For t<20 nm rims (hillocks) start to diminish, but crater hole size showed very little changes even for very thin samples of ∼ 8 nm. Similar results were observed for both impact angles. The results indicate a different depth of origin for crater and ridge formation due to a fast ion impact. (© 2013 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim) [ABSTRACT FROM AUTHOR]

The contribution of mosaicism to diagnosed genetic disease and presumed de novo variants (DNV) is under investigated. We determined the contribution of mosaic genetic disease (MGD) and diagnosed parental mosaicism (PM) in parents of offspring with reported DNV (in the same variant) in the (1) Undiagnosed Diseases Network (UDN) (N = 1946) and (2) in 12,472 individuals electronic health records (EHR) who underwent genetic testing at an academic medical center. In the UDN, we found 4.51% of diagnosed probands had MGD, and 2.86% of parents of those with DNV exhibited PM. In the EHR, we found 6.03% and 2.99% and (of diagnosed probands) had MGD detected on chromosomal microarray and exome/genome sequencing, respectively. We found 2.34% (of those with a presumed pathogenic DNV) had a parent with PM for the variant. We detected mosaicism (regardless of pathogenicity) in 4.49% of genetic tests performed. We found a broad phenotypic spectrum of MGD with previously unknown phenotypic phenomena. MGD is highly heterogeneous and provides a significant contribution to genetic diseases. Further work is required to improve the diagnosis of MGD and investigate how PM contributes to DNV risk., (© 2023 Wiley Periodicals LLC.)