Bankematthiesen3471

Our knowledge of the diversity and frequency of genomic structural variation segregating in populations of large double-stranded (ds) DNA viruses is limited. Here, we sequenced the genome of a baculovirus (Autographa californica multiple nucleopolyhedrovirus [AcMNPV]) purified from beet armyworm (Spodoptera exigua) larvae at depths >195,000× using both short- (Illumina) and long-read (PacBio) technologies. Using a pipeline relying on hierarchical clustering of structural variants (SVs) detected in individual short- and long-reads by six variant callers, we identified a total of 1,141 SVs in AcMNPV, including 464 deletions, 443 inversions, 160 duplications, and 74 insertions. These variants are considered robust and unlikely to result from technical artifacts because they were independently detected in at least three long reads as well as at least three short reads. SVs are distributed along the entire AcMNPV genome and may involve large genomic regions (30,496 bp on average). We show that no less than 39.9 per cent of genomes carry at least one SV in AcMNPV populations, that the vast majority of SVs (75%) segregate at very low frequency ( less then 0.01%) and that very few SVs persist after ten replication cycles, consistent with a negative impact of most SVs on AcMNPV fitness. Using short-read sequencing datasets, we then show that populations of two iridoviruses and one herpesvirus are also full of SVs, as they contain between 426 and 1,102 SVs carried by 52.4-80.1 per cent of genomes. Finally, AcMNPV long reads allowed us to identify 1,757 transposable elements (TEs) insertions, 895 of which are truncated and occur at one extremity of the reads. This further supports the role of baculoviruses as possible vectors of horizontal transfer of TEs. Altogether, we found that SVs, which evolve mostly under rapid dynamics of gain and loss in viral populations, represent an important feature in the biology of large dsDNA viruses. © The Author(s) 2020. Published by Oxford University Press.Background Around a third of people with multiple sclerosis (MS) experience dysphagia. There is a need for disease-specific information on survival following placement of gastrostomy tube in people with MS. Objective We aimed to study survival following gastrostomy in patients with MS. Methods We reviewed medical records, home enteral feeding database and death certificates of people with MS who had gastrostomy from 2005 to 2017. Cox regression analysis was performed to identify independent predictors associated with mortality after gastrostomy. Results Median survival of 53 patients with MS after gastrostomy was 21.73 months. Median duration of hospital stay after gastrostomy was 14 days (IQR 5.25, 51.5). Survival at 30 days, 3 months, 1, 2, 5 and 10 years were 100% (53/53), 98.1% (52/53), 81.1% (43/53), 54.7% (29/53), 22.4% (11/49) and 6.8% (3/44), respectively. Of 53 patients, 24 died due to respiratory tract infection. Patients who had gastrostomy tube before 50 years of age survived longer (median 28.48 months) compared with those who had the gastrostomy after age 50 years (median 17.51 months) (p = 0.040). Conclusion Around 54% of patients with MS survived two or more years following gastrostomy. Younger patients had better survival. The most frequent cause of death was respiratory infection. © The Author(s) 2020.in English, French Contexte Les complications infectieuses nécessitant un traitement néphrotoxique sont fréquentes chez les patients atteints de fibrose kystique (FK), ce qui exige une surveillance de leur fonction rénale. Quoique des études chez l’adulte suggèrent qu’en raison de la réduction de la masse musculaire, la mesure du DFGe basée sur la cystatine C (Cys-C) serait la méthode à privilégier, les patients pédiatriques demeurent sous-étudiés. Objectif Déterminer la meilleure formule de calcul pour estimer le DFG chez les enfants atteints de FK. Méthodologie Au total, 17 patients atteints de FK et traités avec des antibiotiques néphrotoxiques ont été recrutés à l’hôpital pour enfants du London Health Sciences Centre de London (Ontario, Canada). Le DFG mesuré par 99Tc DTPA (mDFG) a été mesuré en quatre points à partir de 120 minutes avec un modèle à deux compartiments, en appliquant la correction de Brøchner-Mortenson. Les taux de créatinine, d’urée et de CysC ont été mesurés simultanément. Le DFGe a été stées n’a bien fonctionné dans notre cohorte d’enfants atteints de FK avec une constitution physique préservée, possiblement en raison d’une inflammation provoquant une élévation du taux de Cys-C. Compte tenu de ces résultats, nous ne pouvons déterminer laquelle parmi ces formules de DFGe est la meilleure.Introduction Idiopathic hypereosinophilic syndrome is defined as persistently elevated peripheral blood absolute eosinophil count of more than 1.5 × 109/L for at least six months with no obvious secondary cause. Case Presentation We report the case of a 26-year-old gentleman of Malay ethnicity who presented to the medical department with a three-week history of abdominal distension associated with dyspepsia and epigastric pain. Physical examination revealed ascites. The complete blood count portrayed peripheral leucocytosis with eosinophilia of 8.84 × 109/L. Parasitic serology was negative. Paracentesis analysis showed exudative ascites with an absolute eosinophil count of 8 × 109/L. He was referred to the haematology department. He was noticed to have bilateral tonsillitis and pruritic skin rash at the legs. There were no palpable lymph nodes or organomegaly. A peripheral blood film showed 44% eosinophils with no excess blasts. Clonal eosinophilic fusion studies did not detect FIP1L1-PDGFRA mutation. JAK2 V617F and BCR-ABL1 mutations were undetected. Serum B12 and tryptase levels were normal. A whole-body computed tomography imaging showed bowel wall thickening at the duodenum, jejunum, ileum, rectosigmoid and splenic flexure. Sections of fragments taken from the endoscopy showed features of eosinophilic gastritis and colitis on histology. Bone marrow biopsy depicted marked eosinophilia. KU-55933 He was started on oral imatinib mesylate 200 mg daily and oral prednisolone 0.5 mg/kg daily which was tapered based on response. He achieved complete remission and is now asymptomatic. Conclusion The diagnosis of hypereosinophilic syndrome should be considered in a patient with unexplained ascites. Secondary sinister causes such as malignancy should always be excluded. © The Author(s) 2020.