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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), an autosomal dominant early-onset isolated dystonia. TOR1A encodes TorsinA, an AAA + ATPase located in the nuclear envelope. By whole exome analyses of a family with a novel dystonia-hemichorea-/hemiballism phenotype, we
This paper presents an in-depth analysis of the stability and performance of control systems experiencing sensor timing misalignments, a common challenge in practical applications such as autonomous vehicles and aerospace systems. We model multichannel sensor delays as independent random variables, capturing the variability of real-world systems where different sensors exhibit distinct and non-con
Life on Earth is a mosaic distributed across biogeographical regions. Their regional species pools have experienced distinct historical and eco-evolutionary pressures, leading to an expected context-dependent organization of biodiversity. Here we identify a general spatial organization within biogeographical regions of terrestrial and marine vertebrates, invertebrates and plants (more than 30,000
The transition to farming in the coastal environments of southern Scandinavia remains a key conundrum in European prehistory. This region was heavily exploited by Late Mesolithic communities of the Ertebølle culture, complex hunter-fisher-gatherers who flourished for some 1500 years prior to the arrival of farming at around 4000 BCE marking the start of the Neolithic period. Extensive genetic and The transition to farming in the coastal environments of southern Scandinavia remains a key conundrum in European prehistory. This region was heavily exploited by Late Mesolithic communities of the Ertebølle culture, complex hunter-fisher-gatherers who flourished for some 1500 years prior to the arrival of farming at around 4000 BCE marking the start of the Neolithic period. Extensive genetic and
Fish played a vital role in the development of the European Mesolithic; from their colonization of the continent during the Upper Palaeolithic to ongoing debates regarding their importance across the Neolithic transition, they are central to many discussions. Here, we focus on the European Mesolithic zooarchaeological fish dataset, in which we have collated >640,000 identified fish remains from 35
This article assesses what is analytically at stake when individuals claim that their rights under the European Convention on Human Rights have been interfered with and the respondent State invokes compliance with positive human rights obligations as the aim pursued with the interference. These situations could be framed as manifesting a tension between negative and positive obligations. This is a
ObjectiveTo identify factors associated with velopharyngeal competence at 10 years of age in children with cleft palate, and examine the longitudinal development of velopharyngeal competence.DesignRegistry-based cohort study.SettingRegional public care university hospitals in Sweden.ParticipantsA total of 507 children born with a cleft palate with or without cleft lip/alveolus.Main Outcome Measure
ObjectivesPatient perceived benefit of treatment for cleft lip and/or palate is of great importance since it is central to development of cleft care. CLEFT-Q is a cleft-specific questionnaire on health-related quality of life. Test-retest reliability, aspects of responsiveness and interpretability are yet to be established for CLEFT-Q. This study aims to investigate these psychometric characterist
This study investigated the birth prevalence of cleft lip and/or palate (CL/P) in Sweden between 2000 and 2020 using data from the Swedish National Medical Birth Register, which includes over 97% of children born in the country, and its subregister the National Register of Congenital Anomalies. The dataset included 2,230,771 anonymized children, with the variables year of birth, sex and diagnoses
Astrocytes are essential for maintaining neuronal health and regulating the brain's inflammatory environment. In this study, we developed an adeno-associated viral vector (AAV9) designed to selectively overexpress glial cell line-derived neurotrophic factor (GDNF) in astrocytes, using the astrocyte-specific GFAP promoter and TdTomato for transduction tracking. This approach yielded targeted GDNF e
Bakgrund: Det är ett välkänt faktum att den demografiska utvecklingen kommer att kräva nya arbetssätt för att äldre ska kunna få vård i liknande omfattning som tidigare. Förhoppningen har ställts till införandet av välfärdsteknik som en viktig del av kompetensförsörjningen, inte bara för att den kan bidra till att upprätthålla välfärden trots fler äldre, utan också genom att göra äldreomsorgsarbet
Tackling biodiversity loss requires not only scaling up financial resources but also improving the governance of how such resources are mobilized, allocated, and accounted for. This paper reviews recent peer-reviewed literature (2019–2023) on biodiversity finance governance, focusing on three interrelated themes: financial instruments and mechanisms, governance structures, and critical and normati
Natural gas/diesel dual-fuel combustion is a novel technique that offers high thermal efficiency and reduced emissions without requiring extensive hardware changes or complex aftertreatment systems. Previous study conducted on the same setup has shown that increasing the diesel mass split ratio (SR) between two injections and advancing the start of first injection (SOI1) improved NOx, HC emissions
