Uncovering genetic signatures of the Walser migration in the Alps: Patterns of diversity and differentiation.

Since leaving Africa, human populations have gone through a series of range expansions. While the genomic signatures of these expansions are well detectable on a continental scale, the genomic consequences of small-scale expansions over shorter time spans are more challenging to disentangle. The medieval migration of the Walser people from their homeland in ssouthern Switzerland (Upper Valais) into other regions of the Alps is a good example of such a comparatively recent geographic and demographic expansion in humans.

Methylation-based forensic age estimation in blood, buccal cells, saliva and semen: A comparison of two technologies.

Forensic age estimation of stain donors through DNA methylation has been intensively studied in recent years. To date, there are many published age estimation tools which are based on technologies including pyrosequencing, minisequencing, or MPS. With the implementation of such tools into routine forensic casework in many laboratories worldwide, there is a need for thorough evaluation and performance comparison.

Exploratory DNA methylation analysis in post-mortem heart tissue of sudden unexplained death.

Background: Sudden unexplained death (SUD) is a devastating event in the young. Despite efforts to identify causal genetic variants, many cases remain unexplained after genetic screening. This study aimed to investigate an alternative potential contributor to SUD by studying the human methylome using the MethylationEPIC v2.

Words versus Strands: Reliability and Stability of Concordance Rates of Self-Reported and Hair-Analyzed Substance Use of Young Adults over Time.

Introduction: Population-level substance use research primarily relies on self-reports, which often underestimate actual use. Hair analyses offer a more objective estimate; however, longitudinal studies examining concordance are lacking. Previous studies showed that specific psychological and behavioral characteristics are associated with a higher likelihood of underreporting substance use, but the longitudinal stability of these associations remains unclear.

Anthropometric weight estimation is less accurate than visual weight estimation in forensic postmortem cases in a Swiss population.

When the time since death must be calculated forensic pathologists often consider a calculation based on the Henssge nomogram. This calculation requires an estimated body weight. Previous research has indicated that healthcare workers generally inaccurately guessed patients' body weights.

Interpretation of molecular autopsy findings in 45 sudden unexplained death cases: from coding region to untranslated region.

Sudden unexplained death (SUD) can affect apparently healthy adolescents and young adults with no prior clinical symptoms and no clear diagnostic findings at autopsy. Although primary cardiac arrhythmias have been shown to be the direct cause of death in the majority of SUD cases, the genetic predisposition contributing to SUD remains incompletely understood. Currently, molecular autopsy is considered to be an effective diagnostic tool in the multidisciplinary management of SUD, but the analysis focuses mainly on the coding region and the significance of many identified variants remains unclear.

TASER 7 and TASER 10 Probe Penetration Into Human Skull Simulants.

The older generation TASER probes X26 and X2 have been shown to be capable of piercing the skull with their tips. With the introduction of the new TASER 7 and the far more powerful TASER 10, concerns have arisen as to whether these weapons might penetrate the skull more deeply and thus prove to be potentially lethal. For this reason, we tested the penetration capacity of these weapons on polyurethane-gelatine-buckskin head simulants at different firing distances.

Comprehensive evaluation of cocaine and its hydroxy metabolites in seized cocaine and a large cohort of hair samples.

As cocaine (COC) is not only incorporated into hair via blood following ingestion but also by external contamination, hair samples are commonly tested for COC metabolites to prove ingestion. However, COC metabolites can also be present as degradation products in typical street COC samples. The present study investigates minor hydroxycocaine (OH-COC) metabolites p- and m-OH-COC together with p- and m-hydroxybenzoylecgonine (OH-BE) in seized COC (n = 200) and hair samples from routine case work (n = 2389).

Assessing the influence of sleep and sampling time on metabolites in oral fluid: implications for metabolomics studies.

Introduction: The human salivary metabolome is a rich source of information for metabolomics studies. Among other influences, individual differences in sleep-wake history and time of day may affect the metabolome.

Objectives: We aimed to characterize the influence of a single night of sleep deprivation compared to sufficient sleep on the metabolites present in oral fluid and to assess the implications of sampling time points for the design of metabolomics studies.

Impact of three different peak picking software tools on the quality of untargeted metabolomics data.

Data quality and control parameters are becoming more important in metabolomics. For peak picking, open-source or commercial solutions are used. Other publications consider different software solutions or data acquisition types for peak picking, a combination, including proposed and new quality parameters for the process of peak picking, does not exist.

Coenzyme Q deficiency may predispose to sudden unexplained death via an increased risk of cardiac arrhythmia.

Cardiac arrhythmia is currently considered to be the direct cause of death in a majority of sudden unexplained death (SUD) cases, yet the genetic predisposition and corresponding endophenotypes contributing to SUD remain incompletely understood. In this study, we aimed to investigate the involvement of Coenzyme Q (CoQ) deficiency in SUD. First, we re-analyzed the exome sequencing data of 45 SUD and 151 sudden infant death syndrome (SIDS) cases from our previous studies, focusing on previously overlooked genetic variants in 44 human CoQ deficiency-related genes.

Prevalence of yaws and syphilis in the Ashanti region of Ghana and occurrence of H. ducreyi, herpes simplex virus 1 and herpes simplex virus 2 in skin lesions associated with treponematoses.

Yaws affects children in tropical regions, while syphilis primarily affects sexually active adults worldwide. Despite various campaigns towards the eradication of yaws and elimination of syphilis, these two diseases are still present in Ghana. The aetiological agents of both diseases, two Treponema pallidum subspecies, are genetically similar.

Postmortem metabolomics: influence of time since death on the level of endogenous compounds in human femoral blood. Necessary to be considered in metabolome study planning?

Introduction: The (un)targeted analysis of endogenous compounds has gained interest in the field of forensic postmortem investigations. The blood metabolome is influenced by many factors, and postmortem specimens are considered particularly challenging due to unpredictable decomposition processes.

Objectives: This study aimed to systematically investigate the influence of the time since death on endogenous compounds and its relevance in designing postmortem metabolome studies.

Development of A Micro-CT Scanner with Dual-Energy Option and Endovascular Contrast Agent Administration Protocol for Fetal and Neonatal Virtual Autopsy.

The rate of parental consent for fetal and perinatal autopsy is decreasing, whereas parents are more likely to agree to virtual autopsy by non-invasive imaging methods. Fetal and perinatal virtual autopsy needs high-resolution and good soft-tissue contrast for investigation of the cause of death and underlying trauma or pathology in fetuses and stillborn infants. This is offered by micro-computed tomography (CT), as opposed to the limited resolution provided by clinical CT scanners, and this is one of the most promising tools for non-invasive perinatal postmortem imaging.

Conflict monitoring and emotional processing in 3,4-methylenedioxymethamphetamine (MDMA) and methamphetamine users - A comparative neurophysiological study.

In stimulant use and addiction, conflict control processes are crucial for regulating substance use and sustaining abstinence, which can be particularly challenging in social-affective situations. Users of methamphetamine (METH, "Ice") and 3,4-methylenedioxymethamphetamine (MDMA, "Ecstasy") both experience impulse control deficits, but display different social-affective and addictive profiles. We thus aimed to compare the effects of chronic use of the substituted amphetamines METH and MDMA on conflict control processes in different social-affective contexts (i.

Associations between hair-derived cannabinoid levels, self-reported use, and cannabis-related problems.

Rationale: As cannabis potency and cannabis use are increasing in newly legalized markets, it is increasingly important to measure and examine the effects of cannabinoid exposure.

Objectives: The current study aims to assess how hair-derived cannabinoid concentrations - offering insight into three-month cumulative exposure - are associated with common self-report measures of cannabis use and cannabis use-related problems.

Methods: 74 near-daily dependent cannabis users self-reported their quantity of cannabis use, cannabis use-related problems, and estimated cannabis potency.

Development and validation of a liquid chromatography-tandem mass spectrometry (LC-MS/MS) method including 25 novel synthetic opioids in hair and subsequent analysis of a Swiss opioid consumer cohort.

Major public health concern is raised by the evidence that common drugs like heroin are now frequently laced or replaced with highly potent novel synthetic opioids (NSOs). The objective of this study was to explore the prevalence and patterns of NSOs in a cohort of Swiss opioid users by hair analysis. Hair analysis is considered an ideal tool for retrospective consumption monitoring.

Stress Markers, Executive Functioning, and Resilience Among Early Adolescents With Complex Congenital Heart Disease.

Importance: Infants with complex congenital heart disease (cCHD) may experience prolonged and severe stress when undergoing open heart surgery. However, little is known about long-term stress and its role in neurodevelopmental impairments in this population.

Objective: To investigate potential differences between early adolescents aged 10 to 15 years with cCHD and healthy controls in physiological stress markers by hair analysis, executive function (EF) performance, and resilience.

Overcoming the clinical challenges of traditional ayahuasca: a first-in-human trial exploring novel routes of administration of N,N-Dimethyltryptamine and harmine.

Recently, the Amazonian plant medicine "ayahuasca"-containing the psychedelic compound N,N-dimethyltryptamine (DMT) and numerous β-carboline alkaloids, such as harmine-has been suggested to exhibit beneficial effects in patients with affective and other mental health disorders. Although ayahuasca ingestion is considered safe, its pharmacokinetics/pharmacodynamics and tolerability profile pose some challenges and may limit the clinical applicability in vulnerable patient populations. While overdosing and the admixture of intolerable plant constituents may explain some of the common adverse reactions, the peroral route of administration may represent another relevant source of gastro-intestinal intolerabilities and unpredictable pharmacokinetics across users.

Selecting mRNA markers in blood for age estimation of the donor of a biological stain.

RNA has gained a substantial amount of attention within the forensic field over the last decade. There is evidence that RNAs are differentially expressed with biological age. Since RNA can be co-extracted with DNA from the same piece of evidence, RNA-based analysis appears as a promising molecular alternative for predicting the biological age and hence inferring the chronological age of a person.

Exome analysis focusing on epilepsy-related genes in children and adults with sudden unexplained death.

Purpose: Genetic studies in sudden infant death syndrome (SIDS) and sudden unexplained death (SUD) cohorts have indicated that cardiovascular diseases might have contributed to sudden unexpected death in 20-35 % of autopsy-negative cases. Sudden unexpected death can also occur in people with epilepsy, termed as sudden unexpected death in epilepsy (SUDEP). The pathophysiological mechanisms of SUDEP are not well understood, but are likely multifactorial, including seizure-induced hypoventilation and arrhythmias as well as genetic risk factors.