Cutibacterium acnes septic arthritis of the nonoperated knee: A case report.

Abstract Cutibacterium (Propionibacterium) acnes, a gram-positive bacillus with low pathogenicity, is an uncommon but known cause of prosthetic joint infections, particularly related to shoulder surgery. C. acnes, however, is an extremely rare pathogen in the nonoperated knee joint. This report details an uncommon case of C. acnes septic knee arthritis after multiple intra-articular steroid injections in a 56-year-old male patient. After an indolent presentation and late diagnosis, the patient underwent surgical debridement with IV antibiotic management. This case illustrates that intra-articular corticosteroid injections for the management of osteoarthritis are not without risk. Literature supporting their use remains limited and clinicians should use proficient clinical judgment for appropriate patient selection for these injections. Vigilance following injections or aspirations of the knee should be maintained to identify the indolent clinical presentation of C. acnes septic arthritis.</jats:p

New Strong Gravitational Lenses from the DESI Legacy Imaging Surveys Data Release 9

We have conducted a search for strong gravitational lensing systems in the Dark Energy Spectroscopic Instrument (DESI) Legacy Imaging Surveys Data Release 9. This is the third paper in a series (following Huang et al. 2020; Huang et al. 2021, Paper I & II, respectively). These surveys together cover $\sim$ 19,000 deg$^2$ visible from the northern hemisphere, reaching a z-band AB magnitude of $\sim$ 22.5. We use a deep residual neural network, trained on a compilation of known lensing systems and candidates as well as non-lenses in the same footprint. After applying our trained neural networks to the survey data, we visually inspect and rank images with probabilities above a threshold. We have found 1895 lens candidates. Out of these, 1512 are identified for the first time. Combining the discoveries from this work, Paper I (335) and II (1210), the total number of strong lens candidates from the Legacy Surveys that we have discovered is 3057.Comment: 19 pages, 10 figures, 4 tables. arXiv admin note: text overlap with arXiv:2005.0473

Array comparative genomic hybridisation-based identification of two imbalances of chromosome 1p in a 9-year-old girl with a monosomy 1p36 related phenotype and a family history of learning difficulties: a case report

<p>Abstract</p> <p>Introduction</p> <p>Monosomy 1p36 is one of the most common terminal deletion syndromes, with an approximate incidence of 1 in every 5000 live births. This syndrome is associated with several pronounced clinical features including characteristic facial features, cardiac abnormalities, seizures and mental retardation, all of which are believed to be due to haploinsufficiency of genes within the 1p36 region. The deletion size varies from approximately 1.5 Mb to 10 Mb with the most common breakpoints located at 1p36.13 to 1p36.33. Over 70% of 1p36 deletion patients have a true terminal deletion. A further 7% have interstitial deletions and a proportion have a derivative chromosome 1 where the 1p telomere is replaced by material from another chromosome, either as a result of a de-novo rearrangement or as a consequence of malsegregation of a balanced parental translocation at meiosis.</p> <p>Case presentation</p> <p>Array comparative genomic hybridisation analysis of a 9-year-old Caucasian girl presenting with dysmorphic facial features and learning difficulties, for whom previous routine karyotyping had been normal, identified two submicroscopic rearrangements within chromosome 1p. Detection of both an insertional duplication of a region of 1p32.3 into the subtelomeric region of the short arm of a chromosome 1 homologue and a deletion within 1p36.32 of the same chromosome instigated a search for candidate genes within these regions which could be responsible for the clinical phenotype of the patient. Several genes were identified by computer-based annotation, some of which have implications in neurological and physical development.</p> <p>Conclusion</p> <p>Array comparative genomic hybridisation is providing a robust method for pinpointing regions of candidate genes associated with clinical phenotypes that extend beyond the resolution of the light microscope. This case report provides an example of how this method of analysis and the subsequent reporting of findings have proven useful in collaborative efforts to elucidate multiple gene functions from a clinical perspective.</p

Study of 124^{124}Sn+136^{136}Xe fusion-evaporation: analysis of a rare-event experiment

7 pages, 4 figuresFusion-evaporation in the $^{124}$Sn+$^{136}$Xe system is studied using a high intensity xenon beam provided by the Ganil accelerator and the LISE3 wien filter for the selection of the products. Due to the mass symmetry of the entrance system, the rejection of the beam by the spectrometer was of the order of $5times10^8$. We have thus performed a detailed statistical analysis to estimate random events and to infer the fusion-evaporation cross sections. No signicant decay events were detected and upper limit cross sections of 172~pb, 87~pb and 235~pb were deduced for the synthesis of $^{257}$Rf, $^{258}$Rf and $^{259}$Rf, respectively

Neutrophil dysfunction triggers inflammatory bowel disease in G6PC3 deficiency

From Wiley via Jisc Publications RouterHistory: received 2019-12-09, rev-recd 2020-08-28, accepted 2020-08-29, pub-electronic 2020-09-15, pub-print 2021-06Article version: VoRPublication status: PublishedFunder: Medical Research Council Clinical Research Training Fellowship; Grant(s): MR/N001427/1Funder: European Society of Paediatric Infectious Diseases FellowshipFunder: Wellcome Trust; Id: http://dx.doi.org/10.13039/100010269; Grant(s): 202865/Z/16/ZAbstract: The glucose‐6‐phosphatase catalytic subunit 3 (G6PC3) encodes a ubiquitously expressed enzyme that regulates cytoplasmic glucose availability. Loss‐of‐function biallelic G6PC3 mutations cause severe congenital neutropenia and a diverse spectrum of extra‐hematological manifestations, among which inflammatory bowel disease (IBD) has been anecdotally reported. Neutrophil function and clinical response to granulocyte colony‐stimulating factor (G‐CSF) and hematopoietic stem cell transplantation (HSCT) were investigated in 4 children with G6PC3 deficiency‐associated IBD. G6PC3 deficiency was associated with early‐onset IBD refractory to treatment with steroids and infliximab. The symptoms of IBD progressed despite G‐CSF treatment. In vitro studies on the patients’ blood showed that neutrophils displayed higher levels of activation markers (CD11b, CD66b, and CD14), excessive IL‐8 and reactive oxygen species, and increased apoptosis and secondary necrosis. Secondary necrosis was exaggerated after stimulation with Escherichia coli and could be partially rescued with supplemental exogenous glucose. HSCT led to normalization of neutrophil function and remission of gastrointestinal symptoms. We conclude that neutrophils in G6PC3 deficiency release pro‐inflammatory mediators when exposed to gut bacteria, associated with intestinal inflammation, despite treatment with G‐CSF. HSCT is an effective therapeutic option in patients with G6PC3 deficiency‐associated IBD refractory to immune suppressants

A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome

Purpose: To investigate if specific exon 38 or 39 KMT2D missense variants (MVs) cause a condition distinct from Kabuki syndrome type 1 (KS1). Methods: Multiple individuals, with MVs in exons 38 or 39 of KMT2D that encode a highly conserved region of 54 amino acids flanked by Val3527 and Lys3583, were identified and phenotyped. Functional tests were performed to study their pathogenicity and understand the disease mechanism. Results: The consistent clinical features of the affected individuals, from seven unrelated families, included choanal atresia, athelia or hypoplastic nipples, branchial sinus abnormalities, neck pits, lacrimal duct anomalies, hearing loss, external ear malformations, and thyroid abnormalities. None of the individuals had intellectual disability. The frequency of clinical features, objective software-based facial analysis metrics, and genome-wide peripheral blood DNA methylation patterns in these patients were significantly different from that of KS1. Circular dichroism spectroscopy indicated that these MVs perturb KMT2D secondary structure through an increased disordered to ɑ-helical transition. Conclusion: KMT2D MVs located in a specific region spanning exons 38 and 39 and affecting highly conserved residues cause a novel multiple malformations syndrome distinct from KS1. Unlike KMT2D haploinsufficiency in KS1, these MVs likely result in disease through a dominant negative mechanism.This article is freely available via Open Access. Click on the Publisher URL to access it via the publisher's site.16-17/10/Newlife - The Charity for Disabled Children FS/13/32/30069/BHF_/British Heart Foundation/United Kingdom 72160007/Chile's National Commission for Scientific and Technological Research MR/K011154/1/MRC_/Medical Research Council/United Kingdom WT_/Wellcome Trust/United Kingdompre-prin

The genetic basis of DOORS syndrome: an exome-sequencing study.

Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures (DOORS) syndrome is a rare autosomal recessive disorder of unknown cause. We aimed to identify the genetic basis of this syndrome by sequencing most coding exons in affected individuals