How to manage patients with germline variants: Recommendations from the Nordic working group on germline predisposition for myeloid neoplasms.

Increasing recognition of germline variants in patients with hematological malignancies prompted us to provide -specific recommendations for diagnosis, surveillance, and treatment. Causative germline variants in the predispose to the development of myeloid neoplasms (MNs), especially myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). Almost 3%-5% of all patients with MDS or AML carry a pathogenic or likely pathogenic germline variant, while half of them acquire a somatic second hit in the other allele.

Infections in patients with mantle cell lymphoma.

Advancements in treatments have significantly improved the prognosis for mantle cell lymphoma (MCL), and there is a growing population of survivors with an increased susceptibility to infections. We assessed the incidence of infections by clinical characteristics and treatment both before and after MCL diagnosis in Sweden. Patients with a diagnosis of MCL ≥ 18 years between 2007 and 2019 were included, along with up to 10 matched comparators.

Self-Report Tool for Identification of Individuals With Coronary Atherosclerosis: The Swedish CardioPulmonary BioImage Study.

Background: Coronary atherosclerosis detected by imaging is a marker of elevated cardiovascular risk. However, imaging involves large resources and exposure to radiation. The aim was, therefore, to test whether nonimaging data, specifically data that can be self-reported, could be used to identify individuals with moderate to severe coronary atherosclerosis.

Melanin-based color variation in response to changing climates in snakes.

Melanism, the process of heavier melanin deposition, can interact with climate variation at both micro and macro scales, ultimately influencing color evolution in organisms. While the ecological processes regulating melanin production in relation to climate have been extensively studied, intraspecific variations of melanism are seldom considered. Such scientific gap hampers our understanding of how species adapt to rapidly changing climates.

Constitutive immune function is not associated with fuel stores in spring migrating passerine birds.

Migratory birds may either upregulate their immune system during migration as they might encounter novel pathogens or downregulate their immune system as a consequence of trade-offs with the resource costs of migration. Support for the latter comes not least from a study that reports a positive correlation in autumn migrating birds between fuel stores and parameters of innate and acquired immune function, that is, energy-exhausted migrants appear to have lowered immune function. However, to our knowledge, no study has tested whether this pattern exists in spring migrating birds, which may face other trade-offs than autumn migrants.

Interventions to improve outdoor mobility among people living with disabilities: A systematic review.

Background: Around 15% of the global population live with some form of disabilities and experience worse health outcomes, less participation in the community and are part of fewer activities outside the home. Outdoor mobility interventions aim to improve the ability to move, travel and orient outside the home and could influence the number of activities outside the home, participation and quality of life. However, outdoor mobility interventions may also lead to harm like falls or injuries or have unforeseen effects which could lead to mortality or hospitalization.

Kinetic models reveal the interplay of protein production and aggregation.

Protein aggregation is a key process in the development of many neurodegenerative disorders, including dementias such as Alzheimer's disease. Significant progress has been made in understanding the molecular mechanisms of aggregate formation in pure buffer systems, much of which was enabled by the development of integrated rate laws that allowed for mechanistic analysis of aggregation kinetics. However, in order to translate these findings into disease-relevant conclusions and to make predictions about the effect of potential alterations to the aggregation reactions by the addition of putative inhibitors, the current models need to be extended to account for the altered situation encountered in living systems.

Primary central nervous system lymphomas: EHA-ESMO Clinical Practice Guideline for diagnosis, treatment and follow-up.

This EHA-ESMO Clinical Practice Guideline provides key recommendations for managing primary DLBCL of the CNS.The guideline covers clinical, imaging and pathological diagnosis, staging and risk assessment, treatment and follow-up.Algorithms for first-line and salvage treatments are provided.

Substance use-related problems in mild intellectual disability: A Swedish nationwide population-based cohort study with sibling comparison.

Background: Evidence for substance use-related problems in individuals with mild intellectual disability is sparse and mainly limited to selected psychiatric populations. We evaluated the risk of substance use-related problems in individuals with mild intellectual disability compared to the general population. Additionally, we have performed secondary sibling comparison analyses to account for familial confounding.

Diastolic Filling in Patients After Heart Transplantation Is Impaired Due to an Altered Geometrical Relationship Between the Left Atrium and Ventricle.

Background: The geometrical relationship between atrial and ventricular short-axis cross-sectional area determines the hydraulic forces acting on intracardiac blood. This is important for diastolic filling. In patients undergoing heart transplantation (HTx), the left atrium is often enlarged as a result of the standard surgical technique.

Reliability and responsiveness of the Swedish short Hip-RSI.

Purpose: The aim of this study was to examine test-retest reliability and responsiveness of the short version (6-item) Hip Return to Sport after Injury (Hip-RSI) scale in patients following hip arthroscopy.

Methods: The study included 100 hip arthroscopy patients responding to a digital survey including the short version (6-item) Hip-RSI, International Hip Outcome Tool (short version) (iHOT-12) and RTS status 3, 6 and 9 months following surgery. The Hip-RSI was administered twice at 3-month follow-up.

Molecular mechanism of α-synuclein aggregation on lipid membranes revealed.

The central hallmark of Parkinson's disease pathology is the aggregation of the α-synuclein protein, which, in its healthy form, is associated with lipid membranes. Purified monomeric α-synuclein is relatively stable , but its aggregation can be triggered by the presence of lipid vesicles. Despite this central importance of lipids in the context of α-synuclein aggregation, their detailed mechanistic role in this process has not been established to date.

Phenological evolution in annual plants under light competition, changes in the growth season and mass loss.

Flowering time is an important phenological trait in plants and a critical determinant of the success of pollination and fruit or seed development, with immense significance for agriculture as it directly affects crop yield and overall food production. Shifts in the growth season, changes in the growth season duration and changes in the production rate are environmental processes (potentially linked to climate change) that can lead to changes in flowering time in the long-term due to selection. In contrast, biomass loss (due to, for example, herbivory or diseases) can have profound consequences for plant mass production and food security.

Long-Term Survival After Single-Ventricle Palliation: A Swedish Nationwide Cohort Study.

Background: Long-term survival after single-ventricle palliation and the effect of dominant ventricle morphology in large, unselected series of patients are scarcely reported.

Methods And Results: This nationwide cohort study included all children undergoing operation with single-ventricle palliation during their first year of life in Sweden between January 1994 and December 2019. Data were obtained from institutional records and assessment of underlying cardiac anomaly and dominant ventricular morphology was based on complete review of medical records, surgical reports, and echocardiographic examinations.

Change in health-related quality of life at early follow-up in patients with pulmonary arterial hypertension and chronic thromboembolic pulmonary hypertension.

Symptoms associated with pulmonary arterial hypertension (PAH) or chronic thromboembolic pulmonary hypertension (CTEPH) impact patient's health-related quality of life (HRQoL). Studies on change and if a minimal clinically important difference (MCID) in HRQoL is reached within a year after diagnosis are lacking. The aim was to investigate the change in HRQoL as well as the proportion of patients that reached MCID at an early postdiagnosis visit.

Elevated FVIII levels in hereditary hemorrhagic telangiectasia: Implications for clinical management.

Objectives: The objective of this study was twofold: to determine the prevalence of arterial and venous thromboembolic events in the Norwegian Hereditary Hemorrhagic Telangiectasia (HHT) population, and to explore potential factors linked to such events, with particular emphasis on FVIII.

Methods: Patients with an HHT diagnosis attending the Otorhinolaryngology Department at Oslo University Hospital-Rikshospitalet were included consecutively between April 2021 and November 2022. We recorded the participants' medical history with an emphasis on thromboembolic events.

Ozone stress response of leaf BVOC emission and photosynthesis in mountain birch ( spp. ) depends on leaf age.

Oxidative stress from ozone (O) causes plants to alter their emission of biogenic volatile organic compounds (BVOC) and their photosynthetic rate. Stress reactions from O on birch trees can result in prohibited plant growth and lead to increased BVOC emission rates as well as changes in their compound blend to emit more monoterpenes (MT) and sesquiterpenes (SQT). BVOCs take part in atmospheric reactions such as enhancing the production of secondary organic aerosols (SOA).

Psychometric evaluation of the electronic faces thermometer scale for pain assessment in children 8-17 years old: A study protocol.

It is often a challenge for a child to communicate their pain, and their possibilities to do so should be strengthened in healthcare settings. Digital self-assessment provides a potential solution for person-centered care in pain management and promotes child participation when a child is ill. A child's perception of pain assessment differs when it is assessed using digital or analog formats.

Why and when should organisms elongate their telomeres? Elaborations on the 'excess resources elongation' and 'last resort elongation' hypotheses.

Telomere length and telomere shortening are thought to be critical cellular attributes and processes that are related to an individual's life span and fitness. The general pattern across most taxa is that after birth telomere length gradually decreases with age. Telomere protection and restoration mechanisms are usually assumed to reduce the rate of shortening or at most keep telomere length constant.