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Pathogenic variants in KIAA0586/TALPID3 are associated with the ciliopathy Joubert syndrome (JS). We report individuals with KIAA0586/TALPID3 variants affected by primary and motile cilia defects leading to JS and chronic destructive airway disease. DNA variants were detected in three families by sequencing. In two unrelated families, a deep-intronic variant (KIAA0586/TALPID3:c.3990 + 3186G>A) act
Aim: To analyse the challenges faced by parents of extremely preterm infants born before 24 weeks of gestation and the potential buffering effect of perceived resources on the family's health continuum. Methods: The qualitative data were obtained from 70 parents of 70 infants born before 24 weeks of gestation, through open-ended questions in a survey. An inductive content analysis was conducted to
Raw sediment samples which are without prior lengthy laboratory preparation can be used to obtain a rough but rapid estimate of the luminescence equivalent dose, and thus of the relative age of the sediment. In this study, we tested this range-finder method on clastic sediments in NE Poland for the first time, with special focus on Pleistocene meltwater sediments generated by highly energetic glac
Nonlinear effects play a central role in photonics as they form the foundation for most of the device functionalities such as amplification and quantum state preparation and detection. Typically the nonlinear effects are weak and emerge only at high photon numbers with strong drive. Here we present an experimental study of a Josephson junction -based high-impedance resonator. We show that by takin
Introduction: Little is known of the long-term prognosis of patients with acute ischaemic stroke in the absence of standard modifiable stroke risk factors (SMoRFs). In acute coronary syndromes, patients without modifiable risk factors have a higher mortality rate. We analysed data from the Swedish Stroke Register to determine survival of patients without SMoRFs following an ischaemic stroke. Patie
InAs nanowires have been used as selectors and electrodes in a one-transistor one-resistor resistive random-access memory (RRAM) configuration for increased memory scalability. Such oxide-based memories not only show promise both in conventional memory technology but also as analog memories for neural networks. The small areas of the oxide elements, however, result in challenges for electrical cha
Background: Desmoplastic melanoma (DM) is a rare subtype, accounting for less than 5% of primary cutaneous invasive melanomas. DM often arises in chronically sun-exposed skin, in older individuals. While the incidence of cutaneous melanoma has increased globally, trends specific to DM are less documented and studies on survival outcomes for DM are inconsistent. Objectives: To study patient and tum
Metal fuels can be promising candidates as alternative energy sources and renewable energy carriers within the metal-fuel cycle. They feature high energy density, low environmental impact, and broad production and application. One challenge in metal particle combustion lies in its multi-physics complexity compared to traditional hydrocarbon fuels. This thesis intends to investigate the combustion
Denna rapport jämför två fall där Helsingborgs stad verkar för att bli mer cirkulär. Det ena är hur avfallsbolaget NSR (där staden är majoritetsägare) har utvecklat en produktionsanläggning och kompetenscentrum om biokol. Det andra är hur Stadsbyggnadskontoret, med Fastighetsförvaltningen, arbetar med att främja återbruk. Rapporten beskriver hur man i dessa två fall har skapat agendasättande relatDenna rapport jämför två fall där Helsingborgs stad verkar för att bli mer cirkulär. Det ena är hur avfallsbolaget NSR (där staden är majoritetsägare) har utvecklat en produktionsanläggning och kompetenscentrum om biokol. Det andra är hur Stadsbyggnadskontoret, med Fastighetsförvaltningen, arbetar med att främja återbruk. Rapporten beskriver hur man i dessa två fall har skapat agendasättande relat
Tool-based code review has been an established software engineering practice for at least a decade. However, while software development environments have improved significantly during this time with advanced features for code comprehension, refactoring, and AI support, code review tools have remained more static and are still centered around a two-way textual diff view with features similar to whe
A debated feature of civil society leadership is the (lack of) diversity among leaders. Another concern is the recruitment of leaders from the public and private sector. In this study we link these debates, analysing how civil society elite boundary crossing – that is, leaders from public and private sectors moving into elite positions in civil society – contributes to making the group of civil so
Accurate prediction of crack growth and strength in glued timber joints and components can be achieved by using cohesive laws in constitutive models. These laws represent the traction-separation relationship that measures the stress transmitted between crack faces in a cohesive zone, and can be obtained directly from experiments. However, studies on measuring the cohesive laws of wood adhesive bon
The paper provides an overview and preliminary results from ongoing research with the aim to evolve cross-laminated timber (CLT) into the next generation of Tailored Laminated Timber (TLT). This is done by exploring innovative concepts that optimize the mechanical performance, while simultaneously ensuring adherence to circular economy principles. The current study aims at investigating the potent
In previous years, substantial research has focused on walkability, primarily examining how the built environment affects walking behavior. However, these studies have predominantly defined walkability through physical and social factors, with limited exploration of its spatial dimension. This article seeks to address this gap by examining the spatiality of walkability through Lefebvre’s spatial tIn previous years, substantial research has focused on walkability, primarily examining how the built environment affects walking behavior. However, these studies have predominantly defined walkability through physical and social factors, with limited exploration of its spatial dimension. This article seeks to address this gap by examining the spatiality of walkability through Lefebvre’s spatial t
Groundwater hydraulics and aquifer processes are largely investigated using techniques that involve some kind of borehole test pumping. Such techniques are well established in the engineering and scientific community but are resource demanding. Time series analysis offer a collection of alternative methods that can be used to evaluate groundwater processes like recharge by using natural groundwate
Recording and analysing groundwater level data can reveal the nature and extension of groundwater processes like flow direction and recharge magnitude. The analyses can even indicate the influence of precipitation, evapotranspiration and runoff on the subsurface processes. However, such analyses are only possible when the recorded data cover relatively large periods of time at a suitable frequency
