Filetype
Purpose:To describe the features of retinal detachments and high myopia in patients with novel pathogenic variants in LEPREL1 and report a possible association with nephropathy.Methods:Retrospective study of 10 children with biallelic LEPREL1 pathogenic variants. Data included ophthalmic features, surgical interventions, and genetic and laboratory findings.Results:10 patients (8 females) from thre
BACKGROUND: Predicting major post-operative complications is an important task for which simple and reliable methods are lacking. A simple scoring system based on intraoperative heart rate, blood pressure and blood loss was recently developed to fill this gap. This system, the Surgical Apgar Score, shows promising results both in terms of validity and in terms of usefulness. The goal of this study
Tumor antigens can emerge through multiple mechanisms, including translation of noncoding genomic regions. This noncanonical category of tumor antigens has recently gained attention; however, our understanding of how they recur within and between cancer types is still in its infancy. Therefore, we developed a proteogenomic pipeline based on deep learning de novo mass spectrometry (MS) to enable th
BackgroundComplement activation in atypical hemolytic uremic syndrome (aHUS), C3 glomerulonephropathy (C3G) and immune complex-mediated membranoproliferative glomerulonephritis (IC-MPGN) may be associated with rare genetic variants. Here we describe gene variants in the Swedish and Norwegian populations.MethodsPatients with these diagnoses (N=141) were referred for genetic screening. Sanger or nex
Nature contains an endless supply of natural products and has for long been a source of inspiration for the pharmaceutical industry. Many of the drugs currently in clinical use originate from natural products. Paclitaxel, the active substance in the anti cancer medicine Taxol, was first isolated from the Pacific yew tree (Taxus brevifolia) in the early 1960s during a screening program for novel an
New high spin states in Mg25 (up to 13.3 MeV in excitation) have been located using the N12,p)25Mg reaction at a laboratory beam energy of 23.5 MeV. Gamma decay from 28 neutron unbound levels has been observed (24 of which are reported here for the first time) up to 7 MeV above the neutron drip line. Tentative identification of the yrast line up to (17/2+ has been made, along with an extension of
To analyse longitudinal changes in passive range of motion (ROM) in the upper limb in adults with cerebral palsy (CP). Method: Passive ROM for shoulder abduction and flexion, supination, and elbow and wrist extension was analysed in a longitudinal cohort of adults aged 16 to 76 years from the Swedish CP registry. Individual ROM trajectories and mean ROM curves were calculated using the Manual Abil
A review of Eva Lilja's study on the phenomenon of rythm in modernist poetry and literature. The book also includes some intermedial aspects.
The timing of the spring season in the boreal region is shifting under global warming, with profound impacts on ecosystems and hydrological processes. However, the mechanisms driving this transition and its considerable interannual variability are not well described, especially regarding the influence of large-scale atmospheric teleconnection patterns. This study examines the temporal variability
We discuss two variations of Edwards’ duality theorem. More precisely, we prove one version of the theorem for cones not necessarily containing all constant functions. In particular, we allow the functions in the cone to have a non-empty common zero set. In the second variation, we replace suprema of point evaluations and infima over Jensen measures by suprema of other continuous functionals and i
Optimization of hexyl-beta-glycoside synthesis from lactose in hexanol at low water activity and high temperature was investigated using beta-glycosidases from hyperthermophilic organisms: Sulfolobus solfataricus (LacS) and Pyrococcus furiosus (CelB). The method for water activity adjustment by equilibration with saturated salt solutions was adapted for use at high temperature. The influence of en
OBJECTIVE. The aim of the study was to describe the association between clinical risk factors in diabetic patients with food ulcers in relation to outcome. DESIGN. A prospective study of 314 consecutively presenting diabetic patients with foot ulcers referred to the Department of Internal Medicine between July 1, 1983 and June 30, 1987. All patients were followed to final outcome. SETTING. All pat
The genetic changes underlying the development and progression of male breast cancer are poorly understood. Germline BRCA2 mutations account for a significant part of male breast cancer, but the majority of patients lack a known inherited predisposition. We recently demonstrated that the progression of breast cancer in female carriers of a germline BRCA1 or BRCA2 mutation follows specific genetic
