OBJECTIVE: Identification of the causal mutation in an African-American family with adult-onset primary dystonia. BACKGROUND: The vast majority of patients with dystonia are adults with primary focal or segmental anatomical distributions. Familial and sporadic dystonia appear to share the same genetic etiological background. Although approximately 10% of probands have at least one first- or second

Purpose: Packaging adds weight and volume to food products, thereby increasing the environmental impact of transport processes. This research examines the relative importance of transport efficient packaging in food supply chains that rely on road transport compared to other environmental requirements, such as packaging material minimization and food waste reduction.Design/methodology/approach: Sc

In this paper, we consider positioning with observed-time-difference-of-arrival (OTDOA) for a device deployed in long-term-evolution (LTE) based narrow-band Internet-of-things (NB-IoT) systems. We propose an iterative expectation- maximization based successive interference cancellation (EM-SIC) algorithm to jointly consider estimations of residual frequency- offset (FO), fading-channel taps and ti

Review of Simon Sebag Montefiore, Den sista tsardynastin. Romanov, 1613-1918

AbstractAim: To describe and understand patients’ experiences as a means to conceptualize and evaluate outpatient person-centered care (PCC) in nurse-led rheumatoid arthritis (RA) clinics.Methods: Persons with RA were interviewed about how they experienced their nurse-led outpatient care and about the meaning of living with persistent RA. Interviews were analyzed by qualitative content analysis an

Respiratory disorders are common among people with intellectual disabilities (ID). However, few studies have investigated these disorders among older people with ID. We identified 7936 people, aged 55+ years, with ID and a reference cohort from the general population. Data on diagnoses of chronic respiratory disorders, with a focus on asthma and chronic obstructive pulmonary disease (COPD), were c

The devices that constitute the Internet of Things are evolving to include more than just enabling sensing and actuation over a wireless interface. In a contemporary scenario, these devices perform tasks and contribute to an aggregate information flow, in a distributed manner. In the wake of this evolution, new distributed Internet of Things frameworks have emerged. These frameworks maintain a dis

STUDY QUESTION Is male factor infertility associated with an increased risk of developing diabetes? SUMMARY ANSWER The study provides evidence that male factor infertility may predict later occurrence of diabetes mellitus with the risk being related to the severity of the underlying fertility problem. WHAT IS KNOWN ALREADY Previous cross-sectional studies have shown an increased prevalence of como

Aims: Epidemiological evidence indicates a protective effect of light to moderate alcohol consumption compared to non-drinking and heavy drinking. Although several mechanisms have been suggested, the effect of alcohol on atherosclerotic changes in vessel walls is unclear. Therefore, we explored the relationship between alcohol consumption and common carotid intima media thickness, a marker of earl

Background: frailty is associated with an increased risk of fragility fractures. Less is known, however, about the association between frailty and bone health.Methods: men aged 40-79 years were recruited from population registers in eight European centres for participation in the European Male Aging Study. Subjects completed a comprehensive assessment which included quantitative ultrasound (QUS) s

Background: The Tau PET ligand 18F-AV1451 has been shown to reliably detect paired helical filaments of tau in Alzheimer's disease, but it is not yet known whether it binds to the tau aggregates present in patients with mutations in the gene (MAPT) coding for the tau protein. Further, no study has yet compared the cerebral retention of 18F -AV1451 with the tau aggregates revealed using neuropathol

Background: Gene-diet interactions have been reported to contribute to the development of type 2 diabetes (T2D). However, to our knowledge, few examples have been consistently replicated to date. Objective: We aimed to identify existing evidence for genemacronutrient interactions and T2D and to examine the reported interactions in a large-scale study. Design: We systematically reviewed studies rep

The automatic detection and classification of stance (e.g., certainty or agreement) in text data using natural language processing and machine learning methods create an opportunity to gain insight into the speakers' attitudes towards their own and other people's utterances. However, identifying stance in text presents many challenges related to training data collection and classifier training. In

Background: Apathy, a prevalent and clinically relevant symptom in neurodegenerative disease, is often evaluated by the instrument Apathy Evaluation Scale (AES). However, this instrument has not been translated into Swedish, halting clinical and research efforts. Furthermore, previous studies lack analyses of some basic properties, such as the legitimacy of a total score, or have analysed dimensio

Introduction: Friedreich's ataxia (FRDA) is a hereditary disorder with progressive postural ataxia, dysarthria, neuropathy, muscle weakness and cardiomyopathy. Lack or malfunction of the protein frataxin due to mutations in the frataxin gene (FXN) is the cause of the disease. Most patients are homozygous for GAA trinucleotide expansions in FXN but disease can also be caused by heterozygosity for t