Biallelic variants in the Golgi SNAP receptor complex member 2 gene ( GOSR2) have been reported in progressive myoclonus epilepsy with neurodegeneration. Typical clinical features include ataxia and areflexia during early childhood, followed by seizures, scoliosis, dysarthria, and myoclonus. Here, we report two novel patients from unrelated families with a GOSR2-related disorder and novel genetic

BACKGROUND: Scintigraphy using technetium-99m labelled dimercaptosuccinic acid ([99mTc]Tc-DMSA), taken up in the proximal tubules, is the standard in functional imaging of the renal cortex. Recent guidelines recommend performing [99mTc]Tc-DMSA scintigraphy with single photon emission computed tomography (SPECT). Prostate-specific membrane antigen (PSMA) targeted positron emission tomography (PET)

The upper layer of our skin, the stratum corneum (SC), is a versatile material that combines mechanical strength with efficient barrier function. In this paper, we discuss these macroscopic properties of SC in relation to recent findings on molecular responses and structural diversity in SC protein and lipids. We put particular focus on the intermediate (colloidal) length scale and how the differe

The ECG diagnosis of LVH is predominantly based on the QRS voltage criteria, i.e. the increased QRS complex amplitude in defined leads. The classical ECG diagnostic paradigm postulates that the increased left ventricular mass generates a stronger electrical field, increasing the leftward and posterior QRS forces. These increased forces are reflected in the augmented QRS amplitude in the correspond

Residual problems may occur from neuroma despite surgery. In a 12-month follow-up study using national register data, symptoms, and disabilities related to surgical methods and sex were evaluated in patients surgically treated for a neuroma. Among 196 identified patients (55% men; lower age; preoperative response rate 20%), neurolysis for nerve tethering/scar formation was the most used surgical m

Recent advances have shown that sound fields can be accurately interpolated between microphone measurements when the spatial covariance matrix is known. This matrix may be estimated in various ways; one promising approach is to use a plane wave formulation with sparse priors, although this may require the use of a many microphones to suppress the noise. To overcome this, we introduce a time domain

Background: The immunogenicity, safety, and efficacy of recombinant factor VIII (rFVIII) have gained increasing interest after the introduction of extended half-life products with various modifications of the rFVIII molecule, such as covalent attachment of polyethylene glycol (PEG). Anti-PEG antibodies may be associated with a temporary reduction of FVIII recovery, but according to previous studie

A method that could assess the whole vehicle non-exhaust particle (NEP) emission from the whole vehicle level was proposed by combining sealed housing with the chassis dynamometer. The intake and exhaust systems were connected to the out of the chamber to avoid possible effects on NEP emissions. The most distinguishing feature of the proposed method is the whole vehicle assessment of the NEP. Base

Segregated bimetallic nanoparticles like core-shell nanoparticles are of interest in various fields including biomedicine, catalysis, and optoelectronics. Aerosol technology is an optimal platform to control nanoparticle size, structure, and composition, which are some of the most important parameters tuning the material performance for the intended applications. Here, we develop a novel evaporato

Background: It has been reported that caseload midwifery, which implies continuity of midwifery care during pregnancy, childbirth, and the postnatal period, improves the outcomes for the mother and child. The aim of this study was to review benefits and risks of caseload midwifery, compared with standard care comparable to the Swedish setting where the same midwife usually provides antenatal care

Fibril-reinforced poroviscoelastic material models are considered state-of-the-art in modeling articular cartilage biomechanics. Yet, cartilage material parameters are often based on bovine tissue properties in computational knee joint models, although bovine properties are distinctly different from those of humans. Thus, we aimed to investigate how cartilage mechanical responses are affected in t

Background: Obstructive sleep apnea (OSA) is associated with atrial fibrillation (AF) in cardiac cohorts. Less is known regarding the magnitude of this association in a sleep clinic cohort with vs. without excessive daytime sleepiness (EDS). Objectives: To explore the association of OSA severity with AF in a sleep clinic cohort stratified by EDS. Patients and methods: All consecutive adults (n = 3

The reformation and characterisation of the passive film formed on ultra-thin 316 L after hydrogen charging is investigated by combining EBSD, TMDS, XRD, Synchrotron-based XPS, and electrochemical experiments. The results show that ultra-thin foil reforms a passive film after 12 h of hydrogen release in NaCl solution. The reformed passive film is half the thickness of the as-received passive film

Background and Objectives: Cancer biomarkers provide information on the characteristics and extent of cancer progression and help inform clinical decision-making. However, they can also play functional roles in oncogenesis, from enabling metastases and inducing angiogenesis to promoting resistance to chemotherapy. The resulting evolution could bias estimates of cancer progression and lead to subop

Gas-phase transmission electron microscopy is an essential tool for elucidating the mechanisms involved in the synthesis of functional materials. Here, we review the latest developments in understanding the growth of novel nanostructural materials afforded by following the process in situ in electron microscopes. Particular focus is on investigations of catalyzed growth of one-dimensional carbon-b

In order to provide clinical utility for research of how art therapists perceive clients’ inner change, the authors created a structured observational framework. This note-taking and assessment consist of five themes and sub-themes: Therapeutic Alliance, Creating, Affect-Awareness, Self-Awareness, and Ego-Strength. The framework was designed to be clinically-friendly, adaptable to various settings

Knowledge about risks for overuse of psychoactive analgesics in patients having primary surgery for carpal tunnel syndrome (CTS) or ulnar nerve entrapment (UNE), or both, is limited. We investigated if patients with those nerve entrapment disorders have a higher risk of overuse of psychoactive analgesics (i.e., opioids and gabapentinoid drugs) before, after, and both before and after surgery than

Fire incidents involving Li-ion batteries is an increasing concern as the use of battery electric vehicles is increasing. Abuse conditions such as heating can result in ejection of flammable and toxic gases, presenting a health risk and risk of explosion or fire. The purpose of the present work is to increase the understanding of combustion of gas mixtures vented from Li-ion batteries. The investi

Atmospheric oxygen (O2) concentrations likely remained below modern levels until the Silurian–Devonian, as indicated by several recent studies. Yet, the background redox state of early Paleozoic oceans remains poorly constrained, hampering our understanding of the relationship between early animal evolution and O2. Here, we present a multi-proxy analysis of redox conditions in the Caledonian forel

Optimal inverse design, including topology optimization and evaluation of fundamental bounds on performance, which was introduced in Part 1, is applied to various antenna design problems. A memetic scheme for topology optimization combines local and global techniques to accelerate convergence and maintain robustness. Method-of-moments (MoMs) matrices are used to evaluate objective functions and al