Validation and TaqMan Conversion of a Molecular Chronotype Assessment Approach.

The present study aimed to develop a TaqMan genotyping card for molecular chronotype assessment based on a predictive panel of 35 previously identified genetic variants. A reliable TaqMan assay was successfully developed for 33 out of the 35 chronotype-predictive variants. The resulting TaqMan genotyping card was utilized to genetically characterize 196 new individuals (in addition to the previously studied 96) and the Morningness-Eveningness Questionnaire was utilized for their phenotypical chronotype assessment.

Multisystem Inflammatory Syndrome of Adults (MIS-A) as Delayed Severe Presentation of SARS-CoV-2 Infection: A Description of Two Cases.

SARS-CoV-2 infection can lead to a potentially life-threatening condition known as SARS-CoV-2-associated multisystem inflammatory syndrome in children (MIS-C), which differs from the severe lung disease and thrombotic complications commonly seen in adults. Recently, similar cases have been identified in adults, characterized by a clinical multisystem inflammatory syndrome referred to as MIS-A, which can emerge as a late and severe complication of SARS-CoV-2 infection. We report two cases of MIS-A that were recently admitted to our hospital.

Chest pain and AI interpretation: The essential role of clinical judgment and quality data.

Chest pain is a common and complex condition in emergency departments, often complicating the diagnostic process due to its wide range of potential causes. This case report presents a 72-year-old man with chest pain and ST-segment elevation on ECG, initially suggestive of acute coronary syndrom. AI-assisted ECG analysis reinforced this suspicion; however, angiography revealed patent coronary arteries.

Recurrent somatic mutations of FAT family cadherins induce an aggressive phenotype and poor prognosis in anaplastic large cell lymphoma.

Background: Anaplastic Large Cell Lymphoma (ALCL) is a rare and aggressive T-cell lymphoma, classified into ALK-positive and ALK-negative subtypes, based on the presence of chromosomal translocations involving the ALK gene. The current standard of treatment for ALCL is polychemotherapy, with a high overall survival rate. However, a subset of patients does not respond to or develops resistance to these therapies, posing a serious challenge for clinicians.

Early Socio-Emotional Difficulty as a Childhood Barrier to the Expected Benefits of Active Play: Associated Risks for School Engagement in Adolescence.

Active play allows children to develop social and cognitive skills, which could lead to higher school engagement. Little is known about the role of child socioemotional difficulty in these associations. This study aims to examine the interaction between active play and socioemotional difficulty in childhood and their prospective association with academic engagement in adolescence.

Active Child, Accomplished Youth: Middle Childhood Active Leisure Fuels Academic Success by Emerging Adulthood.

: Physical activity is an important protective factor throughout life. However, little research has observed the associations between the practice of physical activity and academic success longitudinally, and none have done so with a pan-Canadian sample. This article aims to examine the prospective associations between active leisure in middle childhood and academic achievement in emerging adulthood, for both boys and girls, beyond several family factors.

Auditory Risk Factors at Birth and Language Development at 2 Years of Age: A Longitudinal Analysis.

. To analyze the relationship between auditory risk factors at birth and subsequent language development in toddlerhood. .

Mutant fate in spatially structured populations on graphs: Connecting models to experiments.

In nature, most microbial populations have complex spatial structures that can affect their evolution. Evolutionary graph theory predicts that some spatial structures modelled by placing individuals on the nodes of a graph affect the probability that a mutant will fix. Evolution experiments are beginning to explicitly address the impact of graph structures on mutant fixation.

Ancestral genetic components are consistently associated with the complex trait landscape in European biobanks.

The genetic structure in Europe was mostly shaped by admixture between the Western Hunter-Gatherers, Early European Farmers and Steppe Bronze Age ancestral components. Such structure is regarded as a confounder in GWAS and follow-up studies, and gold-standard methods exist to correct for it. However, it is still poorly understood to which extent these ancestral components contribute to complex trait variation in present-day Europe.

Machine learning-driven diagnosis of multiple sclerosis from whole blood transcriptomics.

Multiple sclerosis (MS) is a neurological disorder characterized by immune dysregulation. It begins with a first clinical manifestation, a clinically isolated syndrome (CIS), which evolves to definite MS in case of further clinical and/or neuroradiological episodes. Here we evaluated the diagnostic value of transcriptional alterations in MS and CIS blood by machine learning (ML).

Middle Childhood Sport Participation Predicts Timely Long-Term Chances of Academic Success in Boys and Girls by Late Adolescence.

Introduction: School-aged children experience successive academic demands that increase over time. Extracurricular sport develops skills that involve physical movement, social rules, formal practice, and rational competition. This may facilitate success.

Automated radiosynthesis and preclinical evaluation of two new PSMA-617 derivatives radiolabelled via [F]AlF method.

Background: In the last decade the development of new PSMA-ligand based radiopharmaceuticals for the imaging and therapy of prostate cancer has been a highly active and important area of research. The most promising derivative in terms of interaction with the antigen and clinical properties has been found to be "PSMA-617", and its lutetium-177 radiolabelled version has recently been approved by EU and USA regulatory agencies for therapeutic purposes. For the above reasons, the development of new derivatives of PSMA-617 radiolabelled with fluorine-18 may still be of great interest.

Feasibility of MALDI-MSI-Based Proteomics Using Bouin-Fixed Pathology Samples: Untapping the Goldmine of Nephropathology Archives.

The application of innovative spatial proteomics techniques, such as those based upon matrix-assisted laser desorption/ionization mass spectrometry imaging (MALDI-MSI) technology, has the potential to impact research in the field of nephropathology. Notwithstanding, the possibility to apply this technology in more routine diagnostic contexts remains limited by the alternative fixatives employed by this ultraspecialized diagnostic field, where most nephropathology laboratories worldwide use bouin-fixed paraffin-embedded (BFPE) samples. Here, the feasibility of performing MALDI-MSI on BFPE renal tissue is explored, evaluating variability within the trypsin-digested proteome as a result of different preanalytical conditions and comparing them with the more standardized formalin-fixed paraffin-embedded (FFPE) counterparts.

Membraneless channels sieve cations in ammonia-oxidizing marine archaea.

Nitrosopumilus maritimus is an ammonia-oxidizing archaeon that is crucial to the global nitrogen cycle. A critical step for nitrogen oxidation is the entrapment of ammonium ions from a dilute marine environment at the cell surface and their subsequent channelling to the cell membrane of N. maritimus.

Maternal Depressive Symptoms in the First Year after Childbirth Predict Long-Term Developmental Risks in Sons and Daughters.

Under-diagnosed and thus under-treated, maternal depression remains the most common complication of childbearing. Varying symptoms suggest persistence up to more than a decade following childbirth. This implies distinct vulnerabilities for the physical and emotional care of children.

The Persian plateau served as hub for Homo sapiens after the main out of Africa dispersal.

A combination of evidence, based on genetic, fossil and archaeological findings, indicates that Homo sapiens spread out of Africa between ~70-60 thousand years ago (kya). However, it appears that once outside of Africa, human populations did not expand across all of Eurasia until ~45 kya. The geographic whereabouts of these early settlers in the timeframe between ~70-60 to 45 kya has been difficult to reconcile.

Family Meal Environment Differentially Conditions the Prospective Association between Early Childhood Screen Time and Key Social Relationships in Adolescent Girls.

Despite screen time recommendations, children are increasingly spending time on electronic devices, rendering it an important risk factor for subsequent social and developmental outcomes. Sharing meals could offer a way to promote psychosocial development. This study examines the interaction between family meal environment and early childhood screen time on key adolescent social relationships.

Private screen access in early adolescence predicts subsequent academic and social impairment at the end of high school for boys and girls.

Introduction: Youth media guidelines in Canada and the United States recommend that bedrooms should remain screen-free zones. This study aims to verify whether bedroom screens at age 12 years prospectively predict academic and social impairment by age 17 years.

Methods: Participants were from the Quebec Longitudinal Study of Child Development birth cohort (661 girls and 686 boys).

Female biased adult sex ratio in the Bronze Age cemetery of Shahr-i Sokhta (Iran) as an indicator of long distance trade and matrilocality.

Objectives: This paper starts from the unusual observation of the overrepresentation of females among adults in the cemetery of Bronze Age Shahr-i Sokhta (Seistan, Iran) and explores the post marital residence pattern. By integrating taphonomical (skeletal preservation), anthropological (sex ratio [SR], sexual dimorphism, stress indicators, age at death), archeological (long distance trade indicators, habitation floor area, social role of women), and ancient DNA (heterozygosity levels in X chromosomes) data we test the hypothesis of post marital matrilocality in the site.

Methods: We computed the SR (pelvis-based sex determination) in a random unpublished adult sample from the cemetery of Shahr-i Sokhta and in two samples previously published by other authors.

Revolutionizing Blood Collection: Innovations, Applications, and the Potential of Microsampling Technologies for Monitoring Metabolites and Lipids.

Blood serves as the primary global biological matrix for health surveillance, disease diagnosis, and response to drug treatment, holding significant promise for personalized medicine. The diverse array of lipids and metabolites in the blood provides a snapshot of both physiological and pathological processes, with many routinely monitored during conventional wellness checks. The conventional method involves intravenous blood collection, extracting a few milliliters via venipuncture, a technique limited to clinical settings due to its dependence on trained personnel.

A fresh perspective on infrared spectroscopy as a prescreening method for molecular and stable isotopes analyses on ancient human bones.

Following the development of modern genome sequencing technologies, the investigation of museum osteological finds is increasingly informative and popular. Viable protocols to help preserve these collections from exceedingly invasive analyses, would allow greater access to the specimens for scientific research. The main aim of this work is to survey skeletal tissues, specifically petrous bones and roots of teeth, using infrared spectroscopy as a prescreening method to assess the bone quality for molecular analyses.

Prospective Associations between Maternal Depressive Symptoms during Early Infancy and Growth Deficiency from Childhood to Adolescence.

Maternal health represents an important predictor of child development; yet it often goes unnoticed during pediatric visits. Previous work suggests that mental state affects parenting. The relationship between infant exposure to maternal depressive symptoms suggests conflicting findings on physical growth.

Towards the Definition of the Molecular Hallmarks of Idiopathic Membranous Nephropathy in Serum Proteome: A DIA-PASEF Approach.

Idiopathic membranous nephropathy (IMN) is a pathologically defined disorder of the glomerulus, primarily responsible for nephrotic syndromes (NS) in nondiabetic adults. The underlying molecular mechanisms are still not completely clarified. To explore possible molecular and functional signatures, an optimised mass spectrometry (MS) method based on next-generation data-independent acquisition combined with ion-mobility was applied to serum of patients affected by IMN (n = 15) or by other glomerulopathies (PN) (n = 15).

Anthropogenic hybridization and its influence on the adaptive potential of the Sardinian wild boar (Sus scrofa meridionalis).

The wild boar (Sus scrofa meridionalis) arrived in Sardinia with the first human settlers in the early Neolithic with the potential to hybridize with the domestic pig (S. s. domesticus) throughout its evolution on the island.