Indigenous Australian genomes show deep structure and rich novel variation.

The Indigenous peoples of Australia have a rich linguistic and cultural history. How this relates to genetic diversity remains largely unknown because of their limited engagement with genomic studies. Here we analyse the genomes of 159 individuals from four remote Indigenous communities, including people who speak a language (Tiwi) not from the most widespread family (Pama-Nyungan).

The landscape of genomic structural variation in Indigenous Australians.

Indigenous Australians harbour rich and unique genomic diversity. However, Aboriginal and Torres Strait Islander ancestries are historically under-represented in genomics research and almost completely missing from reference datasets. Addressing this representation gap is critical, both to advance our understanding of global human genomic diversity and as a prerequisite for ensuring equitable outcomes in genomic medicine.

More than dirt: Sedimentary ancient DNA and Indigenous Australia.

The rise of sedimentary ancient DNA (sedaDNA) studies has opened new possibilities for studying past environments. This groundbreaking area of genomics uses sediments to identify organisms, even in cases where macroscopic remains no longer exist. Managing this substrate in Indigenous Australian contexts, however, requires special considerations.

Agricultural Sulfur Applications Alter the Quantity and Composition of Dissolved Organic Matter from Field-to-Watershed Scales.

Over the past several decades, agricultural sulfur (S) use has dramatically increased. Excess S in the environment can cause several biogeochemical and ecologic consequences, including methylmercury production. This study investigated agriculturally associated changes to organic S─the most dominant form of S within soils─from field-to-watershed scales.

Persisting chemosensory dysfunction in COVID-19 - a cross-sectional population-based survey.

Background: Chemosensory dysfunction (CD) has been reported as a common symptom of SARS-CoV-2 infection, but it is not well understood whether and for how long changes of smell, taste and chemesthesis persist in infected individuals.

Methodology: Unselected adult residents of the German federal state of Schleswig-Holstein with Polymerase Chain Reaction (PCR)-test-confirmed SARS-CoV-2 infection were invited to participate in this large cross-sectional study. Data on the medical history and subjective chemosensory function of participants were obtained through questionnaires and visual analogue scales (VAS).

Severity, predictors and clinical correlates of Post-COVID syndrome (PCS) in Germany: A prospective, multi-centre, population-based cohort study.

Background: Post-COVID syndrome (PCS) is an important sequela of COVID-19, characterised by symptom persistence for >3 months, post-acute symptom development, and worsening of pre-existing comorbidities. The causes and public health impact of PCS are still unclear, not least for the lack of efficient means to assess the presence and severity of PCS.

Methods: COVIDOM is a population-based cohort study of polymerase chain reaction (PCR) confirmed cases of SARS-CoV-2 infection, recruited through public health authorities in three German regions (Kiel, Berlin, Würzburg) between November 15, 2020 and September 29, 2021.

Exploring Online and In-Store Purchase Willingness: Associations With the Big Five Personality Traits, Trust, and Need for Touch.

Nowadays, customers can utilize both online and in-store retail channels. Consequently, it is crucial for retailers to understand the possible drivers of retail channel selection, including customers' personalities, degrees of trust, and product touch preferences. Unfortunately, current omnichannel research only scarcely addresses the effects of personality, trust, and desire to touch a product before purchasing it on willingness to purchase and how those effects vary between online and in-store shopping.

Long-term health sequelae and quality of life at least 6 months after infection with SARS-CoV-2: design and rationale of the COVIDOM-study as part of the NAPKON population-based cohort platform (POP).

Purpose: Over the course of COVID-19 pandemic, evidence has accumulated that SARS-CoV-2 infections may affect multiple organs and have serious clinical sequelae, but on-site clinical examinations with non-hospitalized samples are rare. We, therefore, aimed to systematically assess the long-term health status of samples of hospitalized and non-hospitalized SARS-CoV-2 infected individuals from three regions in Germany.

Methods: The present paper describes the COVIDOM-study within the population-based cohort platform (POP) which has been established under the auspices of the NAPKON infrastructure (German National Pandemic Cohort Network) of the national Network University Medicine (NUM).

Creation of a functional knock-in by CRISPR.

is the only ortholog of mammalian PICALM/AP180, paralogs that play an important role in Clathrin-Mediated Endocytosis (CME) and the recycling of a subset of SNAREs, the vesicle-associated membrane proteins (VAMPs). In this publication we report the creation of a new allele that is endogenously-tagged with GFP just upstream of the stop codon. Moreover, we demonstrate that the UNC-11::GFP fusion protein functions like wild type with an expression pattern similar to UNC-11 antibody staining described previously.

Beyond platitudes: a qualitative study of Australian Aboriginal people's perspectives on biobanking.

Background: Biobanks are vital resources for genetics and genomics, and it is broadly recognised that for maximal benefit it is essential that they include samples and data from diverse ancestral groups. The inclusion of First Nations people, in particular, is important to prevent biobanking research from exacerbating existing health inequities, and to ensure that these communities share in the benefits arising from research.

Aims: To explore the perspectives of Australian Aboriginal people whose tissue - or that of their family members - has been stored in the biobank of the National Centre for Indigenous Genomics (NCIG).

Real-world characteristics of women with endometriosis-related pain entering a multidisciplinary endometriosis program.

Background: Women with endometriosis are commonly treated by their sole provider. In this single-provider model of care, women frequently report long diagnostic delays, unresolved pelvic pain, multiple laparoscopic surgeries, sequential consultations with numerous providers, and an overall dissatisfaction with care. The emergence of multidisciplinary endometriosis centers aims to reduce diagnostic delays, improve pain management, and promote patient satisfaction; however, baseline data at the time of presentation to a multidisciplinary center are lacking.

Barriers and Considerations for Diagnosing Rare Diseases in Indigenous Populations.

Advances in omics and specifically genomic technologies are increasingly transforming rare disease diagnosis. However, the benefits of these advances are disproportionately experienced within and between populations, with Indigenous populations frequently experiencing diagnostic and therapeutic inequities. The International Rare Disease Research Consortium (IRDiRC) multi-stakeholder partnership has been advancing toward the vision of all people living with a rare disease receiving an accurate diagnosis, care, and available therapy within 1 year of coming to medical attention.

Fates and fingerprints of sulfur and carbon following wildfire in economically important croplands of California, U.S.

Sulfur (S) is widely used in agriculture, yet little is known about its fates within upland watersheds, particularly in combination with disturbances like wildfire. Our study examined the effects of land use and wildfire on the biogeochemical "fingerprints," or the quantity and chemical composition, of S and carbon (C). We conducted our research within the Napa River Watershed, California, U.

Equitable Expanded Carrier Screening Needs Indigenous Clinical and Population Genomic Data.

Expanded carrier screening (ECS) for recessive monogenic diseases requires prior knowledge of genomic variation, including DNA variants that cause disease. The composition of pathogenic variants differs greatly among human populations, but historically, research about monogenic diseases has focused mainly on people with European ancestry. By comparison, less is known about pathogenic DNA variants in people from other parts of the world.

[The "Lübeck Worlds of Movement Model"-results of the effects evaluation].

Background: There are few standardized and evaluated intervention programs for elderly people in need of care that consider motor, cognitive and social aspects. Therefore, the "Lübeck Worlds of Movement Model" was developed by the Lübeck Geriatrics Research Group as a multidimensional standardized intervention program for continuous use in the nursing home.

Objectives: The model was evaluated for its effects over the course of one year in the areas of self-care competence (primary endpoint), mobility, coordination, flexibility, strength, endurance, and cognition.

The effects of Thalamic Deep Brain Stimulation on speech dynamics in patients with Essential Tremor: An articulographic study.

Acoustic studies have revealed that patients with Essential Tremor treated with thalamic Deep Brain Stimulation (DBS) may suffer from speech deterioration in terms of imprecise oral articulation and reduced voicing control. Based on the acoustic signal one cannot infer, however, whether this deterioration is due to a general slowing down of the speech motor system (e.g.

The Effect of Uni- and Bilateral Thalamic Deep Brain Stimulation on Speech in Patients With Essential Tremor: Acoustics and Intelligibility.

Background: Deep brain stimulation (DBS) of the ventral intermediate nucleus (VIM) is performed to suppress medically-resistant essential tremor (ET). However, stimulation induced dysarthria (SID) is a common side effect, limiting the extent to which tremor can be suppressed. To date, the exact pathogenesis of SID in VIM-DBS treated ET patients is unknown.

Biological and psychological predictors of posttraumatic stress disorder onset and chronicity. A one-year prospective study.

Background: Few studies have prospectively examined risk factors for posttraumatic stress disorder (PTSD) in the aftermath of a traumatic exposure. The aim of this study is to identify the concurrent influence of psychological and biological diatheses on PTSD onset and maintenance, taking into account socio-demographic factors and psychiatric antecedents.

Methods: A total of 123 civilians (61.

Imaging the photodissociation dynamics of neutral metal clusters: copper dimer, Cu2, and copper oxide, CuO.

The spectroscopy and UV photodissociation dynamics of Cu2 and CuO have been studied using a combination of one- and two-colour excitation and velocity map imaging. Resonant excitation of Cu2 via the J ← X (1)Σg(+) transition leads to significant fragmentation which is interpreted in terms of a combination of direct dissociation of Cu2(+ 2)Π produced in the resonant two-photon ionization process and dissociation of excited Cu2 states above the ionization threshold. By fitting of the kinetic energy release spectra obtained from the velocity map images, we determine a value for the dissociation energy of the cation of D0 (Cu2(+), X (2)Σg(+)) of 1.

Infrared driven CO oxidation reactions on isolated platinum cluster oxides, Pt(n)O(m)+.

This collaboration has recently shown that infrared excitation can drive decomposition reactions of molecules on the surface of gas-phase transition metal clusters. We describe here a significant extension of this work to the study of bimolecular reactions initiated in a similar manner. Specifically, we have observed the infrared activated CO oxidation reaction (CO(ads) + O(ads) --> CO2(g)) on isolated platinum oxide cations, Pt(n)O(m)+.