Importance: Homozygous variants in the neuronal ceroid lipofuscinosis type 5 (CLN5) gene are associated with neuronal ceroid lipofuscinosis, a progressive neurologic disorder that leads to ataxia, seizures, and early death. The association between a homozygous variant in this gene and a macular dystrophy is described here. Objective: To describe an autosomal recessive macular dystrophy associated

Aim/hypothesis: Environmental factors are believed to contribute to the risk of developing type 1 diabetes. The aim of this study was to investigate how size for gestational age affects the risk of developing childhood type 1 diabetes. Methods: Using the Swedish paediatric diabetes quality register and the Swedish medical birth register, children with type 1 diabetes diagnosed between 2000 and 201

Purpose: Becoming widowed is a stressful health-threatening event causing major life changes. We explored how widowed people experience becoming widowed and examined if these experiences are quantitatively associated with widowhood. Methods: A multi-methods study using an exploratory sequential mixed-methods approach including a qualitative descriptive study with widowed people from Denmark and a

Electrostatic forces are important for protein folding and are favored targets of protein engineering. However, interactions between charged residues are difficult to study because of the complex network of interactions found in most proteins. We have designed a purposely simple system to investigate this problem by systematically introducing individual and pairs of charged and titratable residues

The existing information supports the use of this material as described in this safety assessment. p-Tolualdehyde was evaluated for genotoxicity, repeated dose toxicity, developmental and reproductive toxicity, local respiratory toxicity, phototoxicity, skin sensitization potential, and environmental safety. Data from read-across analog benzaldehyde (CAS # 100-52-7) show that p-tolualdehyde is not

3D recording and visualization is standard practice at the Department of Archaeology and Ancient History at LU. This approach is currently used within several field projects to support documentation, data management and data analysis. The 3D data collected in the field are archived in the faculty server and are made available to researchers and students through the Lund University Digital Archaeol

The increasing fragmentation and the rising number of organizations in society create major challenges when implementing policy. In this article, we propose that the concept of metagovernance is useful when addressing these challenges in the governance of knowledge structures. The enhancement of knowledge structures in the Swedish social services is our study object. Networks at national, regional

Time-varying edge weights represent dynamical interactions between any two nodes in multi-agent systems (MASs). In this paper, we consider a synchronization problem for heterogeneous MASs over directed graphs with time-varying edge weights from a control-theoretic perspective. We seek for an adaptive control protocol that drives the synchronization error in the presence of time-varying edge weight

Thermal machines perform useful tasks, such as producing work, cooling, or heating by exchanging energy, and possibly additional conserved quantities such as particles, with reservoirs. Here we consider thermal machines that perform more than one useful task simultaneously, terming these hybrid thermal machines. We outline their restrictions imposed by the laws of thermodynamics and we quantify th

The existing information supports the use of this material as described in this safety assessment. 7,9-Dimethylspiro[5.5]undecan-3-one was evaluated for genotoxicity, repeated dose toxicity, reproductive toxicity, local respiratory toxicity, phototoxicity/photoallergenicity, skin sensitization, and environmental safety. Data show that 7,9-dimethylspiro[5.5]undecan-3-one is not genotoxic. The repea

Background: The Progressive Supranuclear Palsy Rating Scale is a prospectively validated physician-rated measure of disease severity for progressive supranuclear palsy. We hypothesized that, according to experts' opinion, individual scores of items would differ in relevance for patients' quality of life, functionality in daily living, and mortality. Thus, changes in the score may not equate to cli

Head-up tilt test (TT) has been used for >50 years to study heart rate/blood pressure adaptation to positional changes, to model responses to haemorrhage, to assess orthostatic hypotension, and to evaluate haemodynamic and neuroendocrine responses in congestive heart failure, autonomic dysfunction, and hypertension. During these studies, some subjects experienced syncope due to vasovagal reflex. A

BACKGROUND: Heart rate control in atrial fibrillation (AF) is typically assessed by 24-hour electrocardiography (ECG). There are scarce data on the use of 24-hour ECG parameters to predict mortality in AF.AIMS: We aimed to identify 24-hour ECG parameters that predict mortality in AF.METHODS: We enrolled 280 ambulatory patients (mean [SD] age, 72.0 [8.7] years; 57.9% men) with permanent or persiste

Identification of risk factors for fractures is important for improving public health. We aimed to identify which factors related to physical activity and psychosocial situation were associated with incident fractures among 30,446 middle-aged women and men, followed from 1991-1996 to 2016, in a prospective population-based cohort study. The association between the baseline variables and first inci

Post-acute coronary syndrome (ACS) patients are at very high cardiovascular risk. Despite current guidelines strongly recommend to reduce LDL-C levels and initiation of high-intensity statins as early as possible in patients admitted with an ACS, less than half of ACS patients receive a high intensity statin, and a high percentage of has LDL-C well above the goal despite therapy. There are multipl