A neuropathology case report of a woman with Down syndrome who remained cognitively stable: Implications for resilience to neuropathology.

Introduction: Aging adults with Down syndrome (DS) accumulate Alzheimer's disease (AD) neuropathology, including amyloid beta plaques and neurofibrillary tangles, by age 40.

Methods: We present findings from an individual with DS who remained cognitively stable despite AD neuropathology. Clinical assessments, fluid biomarkers, neuroimaging, and neuropathological examinations were conducted to characterize her condition.

Effect of Intrathecal Baclofen on Bladder Function in Patients With Severe Supraspinal Spasticity.

Introduction: Neurogenic bladder dysfunction is a prevalent condition characterized by impaired bladder control resulting from neurological conditions, for example, spinal cord injury or traumatic brain injury (TBI). Detrusor overactivity is a typical symptom of central nervous system damage. A lesion affecting the pontine neural network typically results in loss of tonic inhibition exerted by the pontine micturition center and causes involuntary detrusor contractions.

Double trouble: two retrotransposons triggered a cascade of invasions in Drosophila species within the last 50 years.

Horizontal transfer of genetic material in eukaryotes has rarely been documented over short evolutionary timescales. Here, we show that two retrotransposons, Shellder and Spoink, invaded the genomes of multiple species of the melanogaster subgroup within the last 50 years. Through horizontal transfer, Spoink spread in D.

Low Parental Empathy Predicts Callous-Unemotional Traits in Children With Enhanced Autonomic Sensitivity to the Environment.

Introduction: Recent evidence suggests that autonomic nervous system functioning can reflect individual differences in sensitivity to the environment, which in turn moderates the effects of family context on psychopathic and antisocial behaviour. Although some preliminary research suggests that the coordination of the sympathetic (SNS) and parasympathetic (PNS) branches of the autonomic nervous system may reflect sensitivity to environmental influences, the majority of research to date has been limited in its focus on just one branch, and little is known about the effects of parental empathy on a child's psychopathic-like traits. This study aimed to address this gap by examining if the SNS and PNS jointly moderate the prospective contribution of parental empathy to youth psychopathic-like traits.

A virtual patient authoring tool for transcatheter aortic valve replacement.

Purpose: Computer-based medical training scenarios, derived from patient's records, often lack variability, modifiability, and availability. Furthermore, generating image datasets and creating scenarios is resource-intensive. Therefore, patient authoring tools for rapid dataset-independent creation of virtual patients (VPs) is a pressing need.

GenomeDelta: detecting recent transposable element invasions without repeat library.

We present GenomeDelta, a novel tool for identifying sample-specific sequences, such as recent transposable element (TE) invasions, without requiring a repeat library. GenomeDelta compares high-quality assemblies with short-read data to detect sequences absent from the short reads. It is applicable to both model and non-model organisms and can identify recent TE invasions, spatially heterogeneous sequences, viral insertions, and hotizontal gene transfers.

Representative Organ Doses from Computed Tomography (CT) Exams from a Large International Registry.

Estimation of absorbed organ doses used in computed tomography (CT) using time-intensive Monte Carlo simulations with virtual patient anatomic models is not widely reported in the literature. Using the library of computational phantoms developed by the University of Florida and the National Cancer Institute, we performed Monte Carlo simulations to calculate organ dose values for 9 CT categories representing the most common body regions and indications for imaging (reflecting low, routine, and high radiation dose examinations), stratified by patient age (in children) and effective diameter (in adults, using "diameter" as a measure of patient size). Our sample of 559,202 adult and 103,423 pediatric CT examinations was prospectively assembled between 2015-2020 from 156 imaging facilities from 27 healthcare organizations in 20 U.

Enhanced recovery after minimally invasive cardiac surgery following a zero ICU concept-a propensity score-matched analysis.

Objectives: This study investigates our enhanced recovery after minimally invasive cardiac surgery program "enhanced recovery after minimally invasive cardiac surgery" (ERMICS) following a 'Zero ICU' concept compared to standard-of-care treatment in terms of safety and clinical efficacy.

Methods: All patients who underwent minimally invasive mitral valve surgery for primary severe mitral valve regurgitation between 2021 and 2023 were included. Propensity score matching (2:1) was performed between patients who received standard-of-care treatment and those who underwent ERMICS.

Comorbidities in early-onset sporadic versus presenilin-1 mutation-associated Alzheimer disease dementia: Evidence for dependency on Alzheimer disease neuropathological changes.

Studying comorbidities in early onset Alzheimer disease (AD) may provide an advantageous perspective on their pathogenesis because aging factors may be largely inoperative for these subjects. We compared AD comorbidities between early-onset sporadic cases and American and Colombian cases with PSEN1 mutations. AD neuropathological changes (ADNC) were very severe in all groups but more severe in the PSEN1 groups.

The sensory input, not the motor output, defines blink reflex conditioning.

Objective: Blink reflexes following supraorbital nerve (SON) stimulation are typically modulated by conditioning stimuli (CS) to the index finger (D2) (low-intensity, prepulse inhibition paradigm) or SON (same intensity, paired-pulse paradigm). We aimed to disentangle whether CS-intensity or CS-induced motor responses define blink reflex modulation.

Methods: In 35 subjects, test SON stimuli (8 times sensory threshold, 8 × ST) were applied either alone or following CS.

Marmosets as model systems for the study of Alzheimer's disease and related dementias: Substantiation of physiological tau 3R and 4R isoform expression and phosphorylation.

Introduction: Marmosets spontaneously develop pathological hallmarks of Alzheimer's disease (AD) including amyloid beta plaques. However, tau expression in the marmoset brain has been understudied.

Methods: Isoforms of tau were examined by western blot, mass spectrometry, immunofluorescence, and immunohistochemical staining.

Overcoming immunosuppression in cancer: how ketogenic diets boost immune checkpoint blockade.

Immune checkpoint blockade (ICB) is now part of the standard of care in the treatment of many forms of cancer, yet it lacks efficacy in some patients, necessitating adjunct therapies to support the anti-tumor immune response. Ketogenic diets (KDs), i.e.

Scalable bottom-up synthesis of Co-Ni-doped graphene.

Introducing heteroatoms into graphene is a powerful strategy to modulate its catalytic, electronic, and magnetic properties. At variance with the cases of nitrogen (N)- and boron (B)-doped graphene, a scalable method for incorporating transition metal atoms in the carbon (C) mesh is currently lacking, limiting the applicative interest of model system studies. This work presents a during-growth synthesis enabling the incorporation of cobalt (Co) alongside nickel (Ni) atoms in graphene on a Ni(111) substrate.

A Learnable Prior Improves Inverse Tumor Growth Modeling.

Biophysical modeling, particularly involving partial differential equations (PDEs), offers significant potential for tailoring disease treatment protocols to individual patients. However, the inverse problem-solving aspect of these models presents a substantial challenge, either due to the high computational requirements of model-based approaches or the limited robustness of deep learning (DL) methods. We propose a novel framework that leverages the unique strengths of both approaches in a synergistic manner.

Automated image acquisition and analysis of graphene and hexagonal boron nitride from pristine to highly defective and amorphous structures.

Defect-engineered and even amorphous two-dimensional (2D) materials have recently gained interest due to properties that differ from their pristine counterparts. Since these properties are highly sensitive to the exact atomic structure, it is crucial to be able to characterize them at atomic resolution over large areas. This is only possible when the imaging process is automated to reduce the time spent on manual imaging, which at the same time reduces the observer bias in selecting the imaged areas.

Is hyperactivity in children with attention deficit/hyperactivity disorder (ADHD) a functional response to demands on specific executive functions or cognitive demands in general?

Objective: Hyperactivity is a core and impairing deficit in the clinical model of attention-deficit/hyperactivity disorder (ADHD). However, the extent to which hyperactivity in ADHD is evoked by cognitively challenging tasks in general or by demands on specific executive functions remains unclear.

Method: A clinically evaluated and carefully phenotyped community-referred sample of 184 children ages 8-13 (M = 10.

SPINEPS-automatic whole spine segmentation of T2-weighted MR images using a two-phase approach to multi-class semantic and instance segmentation.

Objectives: Introducing SPINEPS, a deep learning method for semantic and instance segmentation of 14 spinal structures (ten vertebra substructures, intervertebral discs, spinal cord, spinal canal, and sacrum) in whole-body sagittal T2-weighted turbo spin echo images.

Material And Methods: This local ethics committee-approved study utilized a public dataset (train/test 179/39 subjects, 137 female), a German National Cohort (NAKO) subset (train/test 1412/65 subjects, mean age 53, 694 female), and an in-house dataset (test 10 subjects, mean age 70, 5 female). SPINEPS is a semantic segmentation model, followed by a sliding window approach utilizing a second model to create instance masks from the semantic ones.

The impact of insertion bias into piRNA clusters on the invasion of transposable elements.

In our current understanding of transposable element (TE) invasions TEs move freely until they accidentally insert into a piRNA cluster. They are then silenced by the production of piRNA cognate to the TE. Under this model, one would expect that TEs might evolve to avoid piRNA clusters.

AI-Powered Identification of Osteoporosis in Dental Panoramic Radiographs: Addressing Methodological Flaws in Current Research.

Osteoporosis, a systemic skeletal disorder, is expected to affect 60% of women over 50. While dual-energy X-ray absorptiometry (DXA) scans are the current gold standard for diagnosis, they are typically used only after fractures occur, highlighting the need for early detection tools. Initial studies have shown panoramic radiographs (PRs) to be a potential medium, but these have methodological flaws.

Robust Myocardial Perfusion MRI Quantification with DeepFermi.

Stress perfusion cardiac magnetic resonance is an important technique for examining and assessing the blood supply of the myocardium. Currently, the majority of clinical perfusion scans are evaluated based on visual assessment by experienced clinicians. This makes the process subjective, and to this end, quantitative methods have been proposed to offer a more user-independent assessment of perfusion.

Executive function deficits in attention-deficit/hyperactivity disorder and autism spectrum disorder.

Executive function deficits have been reported in both autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD). However, little is known regarding which, if any, of these impairments are unique vs. shared in children with ADHD versus ASD.

The Predictive Value of the Fibrinogen-Albumin-Ratio Index on Surgical Outcomes in Patients with Advanced High-Grade Serous Ovarian Cancer.

Background/objectives: The present study evaluates predictive implications of the pretherapeutic Fibrinogen-Albumin-Ratio Index (FARI) in high-grade serous ovarian cancer (HGSOC) patients undergoing primary cytoreductive surgery.

Methods: This retrospective study included 161 patients with HGSOC International Federation of Gynecology and Obstetrics (FIGO) stage ≥ IIb, who underwent primary cytoreductive surgery followed by platinum-based chemotherapy. Associations between the FARI and complete tumor resection status were described by receiver operating characteristics, and binary logistic regression models were fitted.