A Case of Atraumatic Splenic Rupture Due to T-Cell/Histiocyte-Rich Large B-Cell Lymphoma and a Potential Role for Massive Transfusion Protocol.

Splenic rupture leads to massive hemorrhage and requires immediate surgical intervention. Splenic rupture results from trauma or from underlying disease processes. Lymphoma is a rare cause of atraumatic splenic rupture (ASR) with high mortality rates.

MAP4 kinase-regulated reduced CLSTN1 expression in medulloblastoma is associated with increased invasiveness.

De-regulated protein expression contributes to tumor growth and progression in medulloblastoma (MB), the most common malignant brain tumor in children. MB is associated with impaired differentiation of specific neural progenitors, suggesting that the deregulation of proteins involved in neural physiology could contribute to the transformed phenotype in MB. Calsynthenin 1 (CLSTN1) is a neuronal protein involved in cell-cell interaction, vesicle trafficking, and synaptic signaling.

Paediatric Personalized Research Network Switzerland (SwissPedHealth): a joint paediatric national data stream.

Introduction: Children represent a large and vulnerable patient group. However, the evidence base for most paediatric diagnostic and therapeutic procedures remains limited or is often inferred from adults. There is an urgency to improve paediatric healthcare provision based on real-world evidence generation.

No evidence for an association of testosterone and cortisol hair concentrations with social decision-making in a large cohort of young adults.

Prior research has established that testosterone is an important modulator of social decision-making. However, evidence on the relationship between basal testosterone levels, commonly measured in saliva or blood, and social behavior has been inconsistent due to methodological shortcomings. Additionally, it has been suggested that cortisol might moderate the association between basal testosterone and social behavior.

Risk Factors, Treatments, and Outcomes of Adults Aged <55 Years With Acute Ischemic Stroke With Undetermined Versus Determined Pathogenesis: A Nationwide Swiss Cohort Study.

Background: The rising prevalence of acute ischemic stroke (AIS) in young adults, particularly with undetermined pathogenesis, is a growing concern. This study assessed risk factors, treatments, and outcomes between young AIS patients with undetermined and determined pathogeneses.

Methods And Results: This was a retrospective cohort study including AIS patients aged 18 to 55 years in Switzerland, treated between 2014 and 2022.

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.

Aurora kinase B is required for growth and expansion of medulloblastoma cells in the tissue context.

The impact of the tissue context on tumor growth and drug response in medulloblastoma (MB) is poorly understood. To gain insights into the growth and dissemination behavior of the MB tumor cells under treatment, we combined three-dimensional cell culture screening with ex vivo organotypic cerebellum slice co-culture (OCSC), which allowed the assessment of tumor cell behavior in the tissue context. To identify druggable kinase pathways involved in invasion, we screened a panel of 274 kinase inhibitors and identified aurora kinase B (AURKB) as a potential anti-invasion drug target in MB.

Associations Between Self-Reported Cocaine Use Patterns and Cocaine and Its Metabolites in Hair: Implications for Clinical and Forensic Practices.

In forensic toxicology, it has been debated if hair testing allows an estimation of the intensity of cocaine use-an assumption that may have risen because self-reports in a forensic setting are of uncertain validity per se. We therefore investigated the relationship between self-reported cocaine use and cocaine hair concentrations (including its main metabolites benzoylecgonine and norcocaine) in chronic cocaine users voluntary participating in psychiatric study settings. Additionally, we tested whether hair testing can distinguish between individuals with and without a diagnosis of cocaine dependency.

Transorbital intraoperative electrocorticography-guided surgical resection for medically refractory developmental epileptic encephalopathy with spike-wave activation in sleep.

Developmental epileptic encephalopathy with spike-wave activation in sleep (DEE-SWAS) is an epilepsy syndrome of childhood characterized by developmental delay or regression with significant abnormal epileptiform activity during sleep. In some cases, DEE-SWAS with an identified focal lesion is treated with surgical resection. The authors report an unusual case of focal DEE-SWAS that was successfully treated via transorbital resection with intraoperative electrocorticography (iECoG).

A Novel Deep Ensemble Method for Selective Classification of Electrocardiograms.

Objective: Telehealth paradigms are essential for remotely managing patients with chronic conditions. To assist clinicians in handling the large volumes of data collected through these systems, clinical decision support systems (CDSSs) have been developed. However, the effectiveness of CDSSs depends on the quality of remotely recorded physiological data and the reliability of the algorithms used for processing this data.

Optical Interferometric Device for Rapid and Specific Detection of Biological Cells.

Here, we report a rapid and accurate optical method for detecting cells from liquid samples in a label-free manner. The working principle of the method is based on the interference of parts of a conical laser beam, coming from a single-mode optical fiber directly, and reflected from a flat glass surface. The glass is functionalized by antibodies against the cells to be detected from the liquid sample.

Latent profiles and predictors of barriers to care in Swiss children and adolescents with rare diseases.

Objective: Children and adolescents with rare diseases face significant barriers when accessing healthcare. We aimed to assess and predict these barriers and investigate associations with health-related quality of life (HRQoL).

Method: We conducted a cross-sectional survey of Swiss parents (N = 189) of children with rare diseases including the Barriers to Care Questionnaire (BCQ), containing six barriers and the Pediatric Quality of Life Inventory (PedsQL).

Targeting the cancer cells and cancer-associated fibroblasts with next-generation FGFR inhibitors in prostate cancer co-culture models.

Background: Inhibition of androgen receptor (AR) signaling is the main treatment strategy in advanced prostate cancer (PCa). A subset of castration resistant prostate cancer (CRPC) bypasses the AR blockade by increased fibroblast growth factor receptor (FGFR) signaling. The first- and second-generation, non-covalent FGFR inhibitors (FGFRis) have largely failed in the clinical trials against PCa.

Evolutionary Innovations in Conserved Regulatory Elements Associate With Developmental Genes in Mammals.

Transcriptional enhancers orchestrate cell type- and time point-specific gene expression programs. Genetic variation within enhancer sequences is an important contributor to phenotypic variation including evolutionary adaptations and human disease. Certain genes and pathways may be more prone to regulatory evolution than others, with different patterns across diverse organisms, but whether such patterns exist has not been investigated at a sufficient scale.

Reconstructing human-specific regulatory functions in model systems.

Uniquely human physical traits, such as an expanded cerebral cortex and changes in limb morphology that allow us to use tools and walk upright, are in part due to human-specific genetic changes that altered when, where, and how genes are expressed during development. Over 20 000 putative regulatory elements with potential human-specific functions have been discovered. Understanding how these elements contributed to human evolution requires identifying candidates most likely to have shaped human traits, then studying them in genetically modified animal models.

Cell type-specific dysregulation of gene expression due to haploinsufficiency during mouse cortical development.

Disruptive variants in the chromodomain helicase , which acts as a transcriptional regulator during neurodevelopment, are strongly associated with risk for autism spectrum disorder (ASD). Loss of CHD8 function is hypothesized to perturb gene regulatory networks in the developing brain, thereby contributing to ASD etiology. However, insight into the cell type-specific transcriptional effects of CHD8 loss of function remains limited.

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).

Use Cases Requiring Privacy-Preserving Record Linkage in Paediatric Oncology.

Large datasets in paediatric oncology are inherently rare. Therefore, it is paramount to fully exploit all available data, which are distributed over several resources, including biomaterials, images, clinical trials, and registries. With privacy-preserving record linkage (PPRL), personalised or pseudonymised datasets can be merged, without disclosing the patients' identities.

Resolving the three-dimensional interactome of Human Accelerated Regions during human and chimpanzee neurodevelopment.

Human Accelerated Regions (HARs) are highly conserved across species but exhibit a significant excess of human-specific sequence changes, suggesting they may have gained novel functions in human evolution. HARs include transcriptional enhancers with human-specific activity and have been implicated in the evolution of the human brain. However, our understanding of how HARs contributed to uniquely human features of the brain is hindered by a lack of insight into the genes and pathways that HARs regulate.

Diving into the Digital Landscape: Assessing the Quality of Online Information on Neonatal Jaundice for Parents.

Background: Hyperbilirubinemia is a common condition in newborns. While mild cases of jaundice are common and typically resolve spontaneously, severe hyperbilirubinemia can lead to serious neurologic complications if left untreated. With the constant adaptation of guidelines, clinical management has significantly improved, and treatment has become routine for pediatricians.