Ichthyoses are a clinically and genetically heterogeneous group of genodermatoses associated with abnormal scaling of the skin over the whole body. Mutations in nine genes are known to cause non-syndromic forms of autosomal-recessive congenital ichthyosis (ARCI). However, not all genetic causes for ARCI have been discovered to date. Using whole-exome sequencing (WES) and multigene panel screening,

Background: Medication errors occur frequently at transitions in care and can result in morbidity and mortality. Medication reconciliation is a recognized hospital accreditation requirement and designed to limit errors in transitions in care. Objectives: To identify beliefs, perceived roles and responsibilities of physicians, pharmacists and nurses prior to the implementation of a standardized med

The aim of this study was to evaluate the use of optical coherence tomography (OCT) to identify and assess visual field defects caused by primary damage to the optic radiation in individuals with spastic cerebral palsy (CP). Ten individuals with spastic CP (six females, four males, with a median age of 21 years [range 17–38y]) had their brain lesions documented with conventional magnetic resonance

Cold intolerance and pain can be a substantial problem in patients with peripheral nerve injury. We aimed at investigating the relationships among sensory recovery, cold intolerance, and neuropathic pain in patients affected by upper limb peripheral nerve injury (Sunderland type V) treated with microsurgical repair, followed by early sensory re-education. In a cross-sectional clinical study, 100 p

Aim: To compare incidence of urolithiasis in second-generation immigrant children aged 0-17 years to children of Swedish-born parents. Methods: A nationwide study of individuals residing in Sweden. Urolithiasis was defined as having at least one registered diagnosis of urolithiasis in the Swedish National Patient Register between January 1, 1998 and December 31, 2015. Cox regression analysis was u

‘Flight shame’ describes an unease about the climate implications of air travel, and bears evidence of a change in social norms that have so far associated flying with social status. This paper discusses whether Fridays for Future demonstrations and ensuing flight shame have influenced social norms regarding the desirability of air travel, and whether this is measurable in a decline in air travel,

Massive multiple-input multiple-output (MIMO) promises significantly higher performance relative to conventional multiuser systems. However, the promised gains of massive MIMO systems rely heavily on the accuracy of the absolute front-end calibration, as well as quality of channel estimates at the base station (BS). In this paper, we analyze user equipment-aided calibration mechanism to estimate t

Three-phosphoglycerate dehydrogenase (3- PGDH) deficiency is a rare recessive inborn error in the biosynthesis of the amino acid L-serine characterized clinically by congenital microcephaly, psychomotor retardation, and intractable seizures. The biochemical abnormalities associated with this disorder are low concentrations of L-serine, D-serine, and glycine in cerebrospinal fluid (CSF). Only two m

Purpose: In vivo Alzheimer’s disease (AD) biomarkers for tau pathology are cerebrospinal fluid (CSF) phosphorylated tau (p-tau) and [18F]flortaucipir positron emission tomography (PET). Our aim was to assess associations between CSF p-tau with [18F]flortaucipir PET and the associations of both tau biomarkers with cognition and atrophy. Methods: We included 78 amyloid positive cognitively impaired

A significant fraction of stars between 7 and 11 solar masses are thought to become supernovae, but the explosion mechanism is unclear. The answer depends critically on the rate of electron capture on Ne20 in the degenerate oxygen-neon stellar core. However, because of the unknown strength of the transition between the ground states of Ne20 and F20, it has not previously been possible to fully con

BACKGROUND: TKA generally has excellent long-term survivorship. When a new knee system supersedes a previous model, increased survivorship, improved functional performance, or both may be expected, because key areas of design modification are often targeted to address wear, stability, and the patellofemoral articulation. However, not all design changes are beneficial, and to our knowledge, knee ar

The study describes development of a glycan biosensor for detection of a tumor-associated antibody. The glycan biosensor is built on an electrochemically activated/oxidized graphene screen-printed electrode (GSPE). Oxygen functionalities were subsequently applied for covalent immobilization of human serum albumin (HSA) as a natural nanoscaffold for covalent immobilization of Thomsen-nouvelle (Tn)

Background: Assessing and communicating software engineering research can be challenging. Design science is recognized as an appropriate research paradigm for applied research, but is rarely explicitly used as a way to present planned or achieved research contributions in software engineering. Applying the design science lens to software engineering research may improve the assessment and communic

Are people more likely to become more politically active through social media when they observe that their friends are active? Previous research has shown that an individual's likelihood of engaging politically is influenced by observations of how friends act through social media, but relatively little is known about how such social influence through social media interacts with personality feature

Vertical nanowires with cointegrated metal-oxide-semiconductor field-effect-transistor (MOSFET) selectors and nonvolatile resistive random access memory (RRAM) cells represent a promising candidate for fast, energy-efficient, cross-point memory cells. This paper explores indium-tin-oxide-hafnium-dioxide RRAM cells integrated onto arrays of indium-arsenide (InAs) vertical nanowires with a resulting

Venoarterial (VA) extracorporeal membrane oxygenation (ECMO) support for postcardiotomy cardiogenic shock (PCS) in patients undergoing surgery for acute type A aortic dissection (TAAD) is controversial and the available evidence is confined to limited case series. We aimed to evaluate the impact of this salvage therapy in this patient population. Between January 2010 and March 2018, all TAAD patie

We envision the use of large intelligent surface (LIS) technology, which is a promising concept that goes beyond massive multiple-input multiple-output (MIMO), for positioning applications due to its ability to focus energy in the 3D space. The Cramér-Rao lower bounds (CBLBs) for positioning using a LIS which can resolve amplitude and phase with full resolution have already been determined in the