Filtyp
Background: Four reports, published in the form of pre-prints or peer-reviewed articles, have recently described that spinocerebellar ataxia type 4 (SCA4) is caused by expansion of GGC repeats in exon 10 of ZFHX3 . None of the independent reports have definitely established if longer repeats are associated with earlier disease onset.Methods: We compiled clinical and genetic data from all four publ
Background: Combined movement disorders often represent a diagnostic challenge. Dystonia is a movement disorder characterized by genetic and clinical heterogeneity. A recurring p.(Glu303del)-deletion in TOR1A is a well-established cause for DYT-TOR1A (DYT1) dystonia. TOR1A encodes TorsinA, an AAA+ ATPase located in the nuclear envelope. Hemichorea-hemiballismus syndrome can occur after basal gangl
Objective To elucidate experiences and coping strategies among adults in the surveillance of indeterminate pulmonary nodules detected with CT in the population-based Swedish CardioPulmonary bioImage Study (SCAPIS).Design A qualitative study of conventional content analysis.Settings The study was conducted at a university hospital in a southern region of Sweden. The SCAPIS setting is similar to the
These days, talk of quantum technologies and the coming “quantum revolution” or “quantum leap” is hard to miss. There is a broad agreement that quantum technologies have a high probability of becoming the next disruptive technological development, and the way they should be regulated and the timing of such intervention are issues that are attracting increasing attention. An analysis of how these q
Background: The incidence of lower urinary tract infection (LUTI) in men visiting primary health care (PHC) is low. Hence, GPs do not diagnose and treat men with LUTI very often. Previous studies have shown that adherence to treatment guidelines regarding LUTI in men is low. There is limited knowledge concerning why guidelines are not adhered to.Aim: To gain knowledge on GPs’ experiences and conceBackground: The incidence of lower urinary tract infection (LUTI) in men visiting primary healthcare (PHC) is low. Hence, GPs do not diagnose and treat men with LUTI very often. Previous studieshave shown that adherence to treatment guidelines regarding LUTI in men is low. There is limitedknowledge concerning why guidelines are not adhered to.Aim: To gain knowledge on GPs’ experiences and concerns
Coking is a common catalyst deactivation route in industrial processes involving carbonaceous species. While coking is easy to diagnose, this is often performed by bulk analysis. Understanding specific symptoms such as pore blockage and obstruction of active sites is especially challenging for technical catalysts and requires a spatially-resolved approach. Here a combination of ptychographic X-ray
The widespread availability of large language models (LLMs) has presented the opportunity for novice programmers to make use of them for the purpose of understanding and synthesising code. In this paper, we discuss a small pilot study intended to explore the user experience of doing so in a limited way, and the attitudes of a group of novice programmers towards this style of programming. We also d
This study explores the implementation of a complementary currency – an alternative approach to addressing the problem of poverty caused by the scarcity of conventional money. Complementary currencies can be defined as agreement within communities to use something different to a national currency as a standardized medium of exchange. Previous research has examined the various classifications and o
The terms ‘informal sector’ and ‘shadow economy’ are in vogue but remain conceptually fuzzy in what they measure or mean. They are used in tax research and policy but with many assumptions, leading to poorly designed policies that lead to further immiseration of those who derive their livelihoods informally. Focusing on Sub-Saharan Africa, I critically interrogate the current conceptualisation of
Organizations are viewed as ordered places that legitimizes the hand that holds back, and that formalizes structured, institutionalized ways of saying and doing. Against this backdrop, we want to see the more recent attention to the entrepreneurial as a reason to conceptualize the new organization that emerges from within the existing organization as the “other organization,” accomplished through
In this work, numerical simulation was carried out to study the injection and mixing of ammonia solution spray in the exhaust pipe of diesel engines. The ammonia solution was injected into the hot gas of 623 K. The spray was vaporized into gas and mixed with the hot exhaust gas and together the mixture was transported in the exhaust gas pipe downstream where a selective catalytic reduction (SCR) s
PURPOSE: Cisplatin-based combination chemotherapy (CHT) is standard of care in metastatic urothelial cancer (mUC); however, no predictive molecular biomarkers are available for clinical use. The aim of this study was to investigate the impact of molecular subtypes in relation to treatment response and survival in patients with mUC treated with first-line CHT.PATIENTS AND METHODS: Molecular subtype
