Gene-environmental influence of space and microgravity on red blood cells with sickle cell disease.

A fundamental question in human biology and for hematological disease is how do complex gene-environment interactions lead to individual disease outcome? This is no less the case for sickle cell disease (SCD), a monogenic disorder of Mendelian inheritance, both clinical course, severity, and treatment response, is variable amongst affected individuals. New insight and discovery often lie between the intersection of seemingly disparate disciplines. Recently, opportunities for space medicine have flourished and have offered a new paradigm for study.

Investigating the relationship between thalamic iron concentration and disease severity in secondary progressive multiple sclerosis using quantitative susceptibility mapping: Cross-sectional analysis from the MS-STAT2 randomised controlled trial.

Background: Deep grey matter pathology is a key driver of disability worsening in people with multiple sclerosis. Quantitative susceptibility mapping (QSM) is an advanced magnetic resonance imaging (MRI) technique which quantifies local magnetic susceptibility from variations in phase produced by changes in the local magnetic field. In the deep grey matter, susceptibility has previously been validated against tissue iron concentration.

Preferences and perceived barriers for internet-based treatment among adolescents with anxiety or depressive disorders: A qualitative study.

Background: Over the past two decades, the development of internet-based treatments for adolescents with anxiety and depressive disorders has advanced rapidly. To date, adolescents' preferences and perceived barriers for internet-based treatment remain largely unknown, especially in clinical samples. Therefore, this study explored the preferences and perceived barriers of adolescents with anxiety or depression regarding internet-based treatment.

Prostate Cancer-related Events in Patients with Synchronous Metastatic Hormone-sensitive Prostate Cancer Treated with Androgen Deprivation Therapy with and Without Concurrent Radiation Therapy to the Prostate; Data from the HORRAD Trial.

Background And Objective: A survival benefit was demonstrated for patients with low-volume synchronous metastatic hormone-sensitive prostate cancer (mHSPCa) when local radiotherapy to the prostate was added to androgen deprivation therapy. This study aims to determine the incidence of prostate cancer-related events and treatments in those who received and those who did not receive external beam radiotherapy for mHSPCa.

Methods: The HORRAD trial is a multicentre randomised controlled trial recruiting originally 432 patients with mHSPCa diagnosed between 2004 and 2014.

Clinical outcomes of breast reconstruction using omental flaps: A systematic review.

Background: Breast cancer is the most common cancer in women, and breast reconstruction improves the patient's quality of life. Autologous breast reconstruction provides benefits of natural appearance, feel, and long-term results without implant-associated problems. However, thin patients are not always suitable for standard autologous reconstructions.

HealthyTrailsBR - The prevalence of running-related injuries and cramps, and the description of personal and running characteristics in Brazilian trail runners: a cross-sectional study.

Background: Physical activity in natural environments, such as trail running, is a way to nurture physical and mental health. However, running has an inherent risk of musculoskeletal injuries.

Objectives: To investigate the prevalence of running-related injuries (RRI) and cramps, and to describe the personal and training characteristics of Brazilian trail runners.

Prevalence and future estimates of frailty and pre-frailty in a population-based sample of people 70 years and older in Norway: the HUNT study.

Background: Frailty in older people is a rising global health concern; therefore, monitoring prevalence estimates and presenting projections of future frailty are important for healthcare planning.

Aim: To present current prevalence estimates of frailty and pre-frailty and future projections according to both dominant frailty models in a large population-based observational study including adults ≥ 70 years in Norway.

Methods: In this population-based observational study, we included 9956 participants from the HUNT4 70 + study, conducting assessments at field stations, homes, and nursing homes.

Large-scale CSF proteome profiling identifies biomarkers for accurate diagnosis of Frontotemporal Dementia.

Diagnosis of Frontotemporal dementia (FTD) and the specific underlying neuropathologies (frontotemporal lobar degeneration; FTLD- Tau and FTLD-TDP) is challenging, and thus fluid biomarkers are needed to improve diagnostic accuracy. We used proximity extension assays to analyze 665 proteins in cerebrospinal fluid (CSF) samples from a multicenter cohort including patients with FTD (n = 189), Alzheimer's Disease dementia (AD; n = 232), and cognitively unimpaired individuals (n = 196). In a subset, FTLD neuropathology was determined based on phenotype or genotype (FTLD-Tau = 87 and FTLD-TDP = 68).

Prenatal cell-free DNA testing of women with pregnancy-associated cancer: a retrospective cross-sectional study.

Background: Incidentally, the non-invasive prenatal test (NIPT) shows chromosomal aberrations suspicious of a maternal malignancy, especially after genome-wide testing. The aim of this study is to determine how many cases of cancer in pregnancy are diagnosed or missed with NIPT and whether in retrospect subtle changes in NIPT results could have detected cancer.

Methods: We identified Dutch patients diagnosed in 2017-2021 with pregnancy-associated cancer from the International Network on Cancer, Infertility and Pregnancy (INCIP) Registry, who underwent NIPT in the Dutch NIPT implementation study (TRIDENT-2).

Refining the scope of genetic influences on alcohol misuse through environmental stratification and gene-environment interaction.

Background: Gene-environment interaction (G × E) is likely an important influence shaping individual differences in alcohol misuse (AM), yet it has not been extensively studied in molecular genetic research. In this study, we use a series of genome-wide gene-environment interaction (GWEIS) and in silico annotation methods with the aim of improving gene identification and biological understanding of AM.

Methods: We carried out GWEIS for four AM phenotypes in the large UK Biobank sample (N = 360,314), with trauma exposure and socioeconomic status (SES) as moderators of the genetic effects.

Long-Term Survival in Patients With Advanced Melanoma.

Importance: Long-term survival data from clinical trials show that survival curves of patients with advanced melanoma treated with immune checkpoint inhibitors (ICIs) gradually reach a plateau, suggesting that patients have a chance of achieving long-term survival.

Objective: To investigate long-term survival in patients with advanced melanoma treated with ICIs outside clinical trials.

Design, Setting, And Participants: Cohort study using prospectively collected data from the nationwide Dutch Melanoma Treatment Registry, including patients in the Netherlands with advanced melanoma treated with first-line ICIs from 2012 to 2019.

Synthesis and Characterization of Folic Acid-Conjugated Terbium Complexes as Luminescent Probes for Targeting Folate Receptor-Expressing Cells.

Several conjugates between folic acid and a series of kinetically stable lanthanide complexes have been synthesized, using amide coupling and azide-alkyne cycloaddition methodologies to link the metal-binding domain to folate through a variety of spacer groups. While all these complexes exhibit affinity for the folate receptor, it is clear that the point of attachment to folate is essential, with linkage through the γ-carboxylic acid giving rise to significantly enhanced receptor affinity. All the conjugates studied show affinities consistent with displacing biological circulating folate derivatives, 5-methyltetrahydrofolate, from folate receptors.

The ethical dimension of personal health monitoring in the armed forces: a scoping review.

Background: Personal Health Monitoring (PHM) has the potential to enhance soldier health outcomes. To promote morally responsible development, implementation, and use of PHM in the armed forces, it is important to be aware of the inherent ethical dimension of PHM. In order to improve the understanding of the ethical dimension, a scoping review of the existing academic literature on the ethical dimension of PHM was conducted.

Adverse Events in Anti-PD-1-Treated Adjuvant and First-Line Advanced Melanoma Patients.

: The difference in incidence and severity of anti-PD-1 therapy-related adverse events (irAEs) between adjuvant and advanced treated melanoma patients remains unclear, as no head-to-head studies have compared these groups. : This multi-center cohort study analyzed melanoma patients treated with anti-PD-1 in adjuvant or advanced settings between 2015 and 2021. Comorbidities and ECOG performance status were assessed before treatment, and grade III-IV irAEs were monitored during treatment.

The aperiodic exponent of neural activity varies with vigilance state in mice and men.

Recently the 1/f signal of human electroencephalography has attracted attention, as it could potentially reveal a quantitative measure of neural excitation and inhibition in the brain, that may be relevant in a clinical setting. The purpose of this short article is to show that the 1/f signal depends on the vigilance state of the brain in both humans and mice. Therefore, proper labelling of the EEG signal is important as improper labelling may obscure disease-related changes in the 1/f signal.