Distinct regulation of Tau Monomer and aggregate uptake and intracellular accumulation in human neurons.

Background: The prion-like spreading of Tau pathology is the leading cause of disease progression in various tauopathies. A critical step in propagating pathologic Tau in the brain is the transport from the extracellular environment and accumulation inside naïve neurons. Current research indicates that human neurons internalize both the physiological extracellular Tau (eTau) monomers and the pathological eTau aggregates.

Using machine learning to improve the hard modeling of NMR time series.

Modeling time series of NMR spectra is a useful method to accurately extract information such as temporal concentration profiles from complex processes, e.g. reactions.

Mean platelet volume in preterm infants as a predictor of late-onset neonatal sepsis: a retrospective comparative study.

Background: Neonatal sepsis remains a primary cause of morbidity and mortality among newborns. Rapid and accurate diagnosis poses a significant challenge-the non-specific clinical presentation of neonatal sepsis relies heavily on various laboratory indices for early detection and subsequent management. One such indicator under investigation is the mean platelet volume (MPV), which may serve as a predictive marker.

First Simultaneous Measurement of Differential Muon-Neutrino Charged-Current Cross Sections on Argon for Final States with and without Protons Using MicroBooNE Data.

We report the first double-differential neutrino-argon cross section measurement made simultaneously for final states with and without protons for the inclusive muon neutrino charged-current interaction channel. The proton kinematics of this channel are further explored with a differential cross section measurement as a function of the leading proton's kinetic energy that extends across the detection threshold. These measurements use data collected with the MicroBooNE detector from 6.

F-NMR Probing of Ion-Induced Conformational Changes in Detergent-Solubilized and Nanodisc-Reconstituted NCX_Mj.

Consecutive interactions of 3Na or 1Ca with the Na/Ca exchanger (NCX) result in an alternative exposure (access) of the cytosolic and extracellular vestibules to opposite sides of the membrane, where ion-induced transitions between the outward-facing (OF) and inward-facing (IF) conformational states drive a transport cycle. Here, we investigate sub-state populations of apo and ion-bound species in the OF and IF states by analyzing detergent-solubilized and nanodisc-reconstituted preparations of NCX_Mj with F-NMR. The F probe was covalently attached to the cysteine residues at entry locations of the cytosolic and extracellular vestibules.

First Search for Dark-Trident Processes Using the MicroBooNE Detector.

We present a first search for dark-trident scattering in a neutrino beam using a dataset corresponding to 7.2×10^{20} protons on target taken with the MicroBooNE detector at Fermilab. Proton interactions in the neutrino target at the main injector produce π^{0} and η mesons, which could decay into dark-matter (DM) particles mediated via a dark photon A^{'}.

Association of BNT162b2 SARS-CoV-2 vaccination during pregnancy with postnatal outcomes in premature infants.

Aim: The effect of COVID-19 vaccine given during pregnancy on premature infants is unknown. This study aims to determine the association between maternal COVID-19 vaccine with postnatal outcome in premature infants.

Methods: This is a single-centre retrospective case-control study of infants born before 35 weeks gestation to mothers who received SARS-CoV-2 vaccine during pregnancy compared with infant born to non-vaccinated mothers.

A corpus of GA4GH Phenopackets: case-level phenotyping for genomic diagnostics and discovery.

The Global Alliance for Genomics and Health (GA4GH) Phenopacket Schema was released in 2022 and approved by ISO as a standard for sharing clinical and genomic information about an individual, including phenotypic descriptions, numerical measurements, genetic information, diagnoses, and treatments. A phenopacket can be used as an input file for software that supports phenotype-driven genomic diagnostics and for algorithms that facilitate patient classification and stratification for identifying new diseases and treatments. There has been a great need for a collection of phenopackets to test software pipelines and algorithms.

IKAROS-how many feathers have you lost: mild and severe phenotypes in deficiency.

Heterozygous germline variants in human encoding for IKAROS define an inborn error of immunity with immunodeficiency, immune dysregulation and risk of malignancy with a broad phenotypic spectrum. Growing evidence of underlying pathophysiological genotype-phenotype correlations helps to improve our understanding of IKAROS-associated diseases. We describe 6 patients from 4 kindreds with two novel variants leading to haploinsufficiency from 3 centers in Germany.

One gene to rule them all - clinical perspectives of a potent suppressor of cytokine signaling - SOCS1.

The discovery of Suppressor of Cytokine Signaling 1 (SOCS1) in 1997 marked a significant milestone in understanding the regulation of Janus kinase/Signal transducer and activator of transcription (JAK/STAT) signaling pathways. Subsequent research deciphered its cellular functions, and recent insights into SOCS1 deficiencies in humans underscored its critical role in immune regulation. In humans, SOCS-haploinsufficiency (SOCS1-HI) presents a diverse clinical spectrum, encompassing autoimmune diseases, infection susceptibility, and cancer.

First Measurement of η Meson Production in Neutrino Interactions on Argon with MicroBooNE.

We present a measurement of η production from neutrino interactions on argon with the MicroBooNE detector. The modeling of resonant neutrino interactions on argon is a critical aspect of the neutrino oscillation physics program being carried out by the DUNE and Short Baseline Neutrino programs. η production in neutrino interactions provides a powerful new probe of resonant interactions, complementary to pion channels, and is particularly suited to the study of higher-order resonances beyond the Δ(1232).

Modeling temperature-dependent life-cycle toxicity of thiamethoxam in Chironomus riparius using a DEB-TKTD model.

The neonicotinoid insecticide thiamethoxam (TMX) is widely used to protect crops against insect pests. Despite some desirable properties such as its low toxicity to birds and mammals, concerns have been raised about its toxicity to non-target arthropods, including freshwater insects like chironomids. Whereas multiple studies have investigated chronic effects of neonicotinoids in chironomid larvae at standardized laboratory conditions, a better understanding of their chronic toxicity under variable temperatures and exposure is needed for coherent extrapolation from the laboratory to the field.

Structural dynamics of Na and Ca interactions with full-size mammalian NCX.

Cytosolic Ca and Na allosterically regulate Na/Ca exchanger (NCX) proteins to vary the NCX-mediated Ca entry/exit rates in diverse cell types. To resolve the structure-based dynamic mechanisms underlying the ion-dependent allosteric regulation in mammalian NCXs, we analyze the apo, Ca, and Na-bound species of the brain NCX1.4 variant using hydrogen-deuterium exchange mass spectrometry (HDX-MS) and molecular dynamics (MD) simulations.

Hepatic extravasation of total parenteral nutrition following umbilical venous catheter insertion: A rare complication.

Umbilical venous catheters are commonly inserted in critically ill newborns and can lead to severe complications when misplaced. We report a preterm female with a prenatal diagnosis of duodenal atresia who presented 2 days after the surgical repair with abdominal distension, hemodynamic instability, elevated liver enzymes with severe cholestatic jaundice, and a hepatic collection on abdominal sonography. An urgent explorative laparotomy demonstrated a large amount of white, milky-appearing fluid in the abdominal cavity.

Establishing healthy longevity clinics in publicly funded hospitals.

Healthy longevity medicine integrates geroscience and other disciplines into clinical settings, aiming to optimize health throughout one's lifespan. Multiple factors have led to increased consumer engagement, with private clinics currently meeting the demand for guidance to improve healthy longevity. The establishment of healthy longevity clinics in publicly funded hospitals is a significant development, making longevity-focused healthcare more accessible.

Search for Heavy Neutral Leptons in Electron-Positron and Neutral-Pion Final States with the MicroBooNE Detector.

We present the first search for heavy neutral leptons (HNLs) decaying into νe^{+}e^{-} or νπ^{0} final states in a liquid-argon time projection chamber using data collected with the MicroBooNE detector. The data were recorded synchronously with the NuMI neutrino beam from Fermilab's main injector corresponding to a total exposure of 7.01×10^{20} protons on target.

Neonatal Birth Weight With Daily Compared With Every-Other-Day Glucose Monitoring in Gestational Diabetes Mellitus: A Randomized Controlled Trial.

Objective: To assess whether universal use of every-other-day glucose monitoring in patients with gestational diabetes mellitus (GDM) resulted in similar birth weights and medication use and was preferred by the patient compared with traditional daily glucose monitoring.

Methods: This was a noninferiority randomized controlled trial conducted at a single New York City hospital between April 2021 and May 2022. Patients with singleton pregnancies who were diagnosed with GDM after 20 weeks of gestation and had a minimum of 7 days of previous daily blood glucose testing were randomly assigned to test blood glucose values daily or every other day.

[Juvenile localized scleroderma].

Juvenile scleroderma, often referred to as juvenile localized scleroderma or "morphea", is a rare inflammatory disease of the skin and skin-related structures, accompanied by local sclerosis and tissue fibrosis. Depending on the clinical manifestation, four different subtypes can be defined: limited, generalized, linear, and mixed. To prevent possible sequelae of the disease, the diagnosis should be made as early as possible and therapy should be initiated at specialized centers in multiprofessional pediatric and dermatologic collaboration.

The Medical Action Ontology: A tool for annotating and analyzing treatments and clinical management of human disease.

Background: Navigating the clinical literature to determine the optimal clinical management for rare diseases presents significant challenges. We introduce the Medical Action Ontology (MAxO), an ontology specifically designed to organize medical procedures, therapies, and interventions.

Methods: MAxO incorporates logical structures that link MAxO terms to numerous other ontologies within the OBO Foundry.

Perinatal and neonatal risk factors for retinopathy of prematurity in very low birthweight, very preterm twins: a population-based study.

Objective: To determine the effect of perinatal and neonatal risk factors on retinopathy of prematurity (ROP) and to examine the association of fertility treatments on the risk for ROP in very low birth weight (VLBW) preterm twins.

Methods: The population-based observational study consisted of VLBW twins born at 24-29 weeks gestational age (GA). Data from the Israel national database (1995-2020) were applied.

First Double-Differential Measurement of Kinematic Imbalance in Neutrino Interactions with the MicroBooNE Detector.

We report the first measurement of flux-integrated double-differential quasielasticlike neutrino-argon cross sections, which have been made using the Booster Neutrino Beam and the MicroBooNE detector at Fermi National Accelerator Laboratory. The data are presented as a function of kinematic imbalance variables which are sensitive to nuclear ground-state distributions and hadronic reinteraction processes. We find that the measured cross sections in different phase-space regions are sensitive to different nuclear effects.

Rapid and sustained response to JAK inhibition in a child with severe MDA5 + juvenile dermatomyositis.

Background: Juvenile dermatomyositis (jDM) is the most common idiopathic inflammatory myopathy of childhood. Amyopathic or hypomyopathic courses have been described.

Case Presentation: We present the case of a 4-year-old patient with MDA5 antibody positive jDM and interstitial lung disease.