A generative model of the connectome with dynamic axon growth.

Connectome generative models, otherwise known as generative network models, provide insight into the wiring principles underpinning brain network organization. While these models can approximate numerous statistical properties of empirical networks, they typically fail to explicitly characterize an important contributor to brain organization-axonal growth. Emulating the chemoaffinity-guided axonal growth, we provide a novel generative model in which axons dynamically steer the direction of propagation based on distance-dependent chemoattractive forces acting on their growth cones.

Implications of the choroid plexus in Niemann-Pick disease Type C neuropathogenesis.

Background: Niemann-Pick Disease Type C (NPC) is an ultra-rare disorder characterized by progressive psychiatric and neurologic manifestations, with late infantile, juvenile, and adolescent/adult presentations. We examined morphological properties of the choroid plexus, a protective blood-cerebrospinal fluid barrier, in NPC, and their relationship with neurodegeneration, clinical status, and circulatory markers. This study also determined whether choroid plexus morphology differentiates between NPC and more prevalent illnesses, schizophrenia (SZ) and bipolar disorder (BD), which have overlapping psychiatric symptoms with adolescent and adult-onset NPC and are associated with misdiagnosis.

Comparison of two cases of Familial Adenomatous Polyposis with the same APC genotype and different phenotypes.

Familial adenomatous polyposis (FAP) is a colorectal cancer (CRC) predisposition syndrome characterized by the presence of numerous colorectal adenomatous polyps, resulting from a single germline, heterozygous, likely pathogenic/pathogenic (LP/P) variant in the APC gene, an important tumor suppressor encoding gene. Classic FAP is considered in individuals with a germline LP/P variant in APC and have ≥100 colorectal adenomatous polyps beginning on average in adolescence, while attenuated FAP typically presents with fewer colorectal adenomatous polyps (10-<100 polyps) in adulthood. Both forms can feature extracolonic manifestations, such as desmoid tumors, thyroid cancer, and osteomas.

Okra ( L.) Flour Integration in Wheat-Based Sourdough: Effect on Nutritional and Technological Quality of Bread.

The aim of this study was to develop an innovative sourdough using dehydrated okra ( L.) pod flour and to use it in the production of bread. Three different flours (sun-dried S, freeze-dried F, oven-dried O) were individually mixed at 9% with wheat flour (Dough Yield 300) and fermented (N: 8.

Multifactorial assessment of braking time predictors in a driving simulator among older adults according to gender.

Context: Vehicle driving depends on the integration of motor, visual, and cognitive skills to respond appropriately to different situations that occur in traffic.

Objectives: To analyze a model of performance predictor for braking time in the driving simulator, using a battery of tests divided by gender.

Methods: Selected were 100 male drivers with a mean age of 72.

Spontaneous single-nucleotide substitutions and microsatellite mutations have distinct distributions of fitness effects.

The fitness effects of new mutations determine key properties of evolutionary processes. Beneficial mutations drive evolution, yet selection is also shaped by the frequency of small-effect deleterious mutations, whose combined effect can burden otherwise adaptive lineages and alter evolutionary trajectories and outcomes in clonally evolving organisms such as viruses, microbes, and tumors. The small effect sizes of these important mutations have made accurate measurements of their rates difficult.

Potential Prebiotic Effect of Inulin-Enriched Pasta after In Vitro Gastrointestinal Digestion and Simulated Gut Fermentation.

In the current study, the prebiotic potential of an innovative functional pasta enriched with 12% (/) inulin was investigated. To this aim, pasta was subjected to in vitro gastrointestinal digestion followed by simulated gut fermentation compared to the control pasta (CTRL) not containing inulin. The incorporation of inulin positively ( < 0.

Evaluating parental personal utility of pediatric genetic and genomic testing in a diverse, multilingual population.

There is increasing evidence of the clinical utility of genetic and genomic testing (GT); however, factors influencing personal utility of GT, especially in diverse, multilingual populations, remain unclear. We explored these factors in a diverse cohort of parents/guardians (participants) whose children received clinical GT through the NYCKidSeq program. A total of 847 participants completed surveys at baseline, post-results disclosure, and 6 months (6m) post-results.

From pixels to connections: exploring in vitro neuron reconstruction software for network graph generation.

Digital reconstruction has been instrumental in deciphering how in vitro neuron architecture shapes information flow. Emerging approaches reconstruct neural systems as networks with the aim of understanding their organization through graph theory. Computational tools dedicated to this objective build models of nodes and edges based on key cellular features such as somata, axons, and dendrites.

Smoking-associated gene expression alterations in nasal epithelium reveal immune impairment linked to lung cancer risk.

Background: Lung cancer is the leading cause of cancer-related death in the world. In contrast to many other cancers, a direct connection to modifiable lifestyle risk in the form of tobacco smoke has long been established. More than 50% of all smoking-related lung cancers occur in former smokers, 40% of which occur more than 15 years after smoking cessation.

Impact of Atomic Defects on Ceria Surfaces on Chemical Mechanical Polishing of Silica Glass Surfaces.

This study investigates the impact of atomic defects, such as oxygen vacancies and Ce ions, on cerium oxide (ceria) surfaces during chemical mechanical polishing (CMP) for silica glass finishing. Using density functional theory (DFT) and reactive molecular dynamics simulations, the interaction of orthosilicic molecules and silica glass with dry and wet ceria surfaces is explored. Defects alter the surface reactivity, leading to the dissociation of orthosilicic acid on oxygen vacancies, forming a strong Si-O-Ce bond.

A generative model of the connectome with dynamic axon growth.

Connectome generative models, otherwise known as generative network models, provide insight into the wiring principles underpinning brain network organization. While these models can approximate numerous statistical properties of empirical networks, they typically fail to explicitly characterize an important contributor to brain organization - axonal growth. Emulating the chemoaffinity guided axonal growth, we provide a novel generative model in which axons dynamically steer the direction of propagation based on distance-dependent chemoattractive forces acting on their growth cones.

Genetic influences on circulating retinol and its relationship to human health.

Retinol is a fat-soluble vitamin that plays an essential role in many biological processes throughout the human lifespan. Here, we perform the largest genome-wide association study (GWAS) of retinol to date in up to 22,274 participants. We identify eight common variant loci associated with retinol, as well as a rare-variant signal.

Network analysis of neuropsychiatric, cognitive, and functional complications of stroke: implications for novel treatment targets.

Aim: Recovery from stroke is adversely affected by neuropsychiatric complications, cognitive impairment, and functional disability. Better knowledge of their mutual relationships is required to inform effective interventions. Network theory enables the conceptualization of symptoms and impairments as dynamic and mutually interacting systems.

The NYCKidSeq randomized controlled trial: Impact of GUÍA digitally enhanced genetic results disclosure in diverse families.

Digital solutions are needed to support rapid increases in the application of genetic/genomic tests (GTs) in diverse clinical settings and patient populations. We developed GUÍA, a bilingual digital application that facilitates disclosure of GT results. The NYCKidSeq randomized controlled trial enrolled diverse children with neurologic, cardiac, and immunologic conditions who underwent GTs.

Improvement in Left and Right Ventricular Function after Introduction of SGLT2 Inhibitors in Heart Failure Outpatients with Reduced Ejection Fraction.

Background: Type 2 sodium-glucose cotransporter inhibitors (SGLT2i) are among the main therapeutic options for patients with chronic heart failure with reduced ejection fraction (HFrEF). The aim of this study was to evaluate the effects of SGLT2i on the echocardiographic parameters of left (LV) and right (RV) ventricular function among outpatients with a long history of HFrEF, in optimized therapy.

Methods: We evaluated consecutive patients affected by HFrEF in whom the SGLT2i therapy was prescribed.

Physician services and costs after disclosure of diagnostic sequencing results in the NYCKidSeq program.

Purpose: To better understand the effects of returning diagnostic sequencing results on clinical actions and economic outcomes for pediatric patients with suspected genetic disorders.

Methods: Longitudinal physician claims data after diagnostic sequencing were obtained for patients aged 0 to 21 years with neurologic, cardiac, and immunologic disorders with suspected genetic etiology. We assessed specialist consultation rates prompted by primary diagnostic results, as well as marginal effects on overall 18-month physician services and costs.

Laparoscopic and Open Nephron-Sparing Surgery for Radius Exophytic/Endophytic Nearness Anterior/ Posterior Location Nephrometry Score 7 and Higher Kidney Tumors: A Comparison of Oncological and Functional Outcomes Using the Pentafecta Score.

Objective: This study aimed to evaluate oncological and functional outcomes of nephron- sparing surgery by comparing open and laparoscopic approaches in a consecutive series of patients with intermediate and high complexity renal masses.

Materials And Methods: We retrospectively reviewed all nephron-sparing surgery cases in 2 referral centers from January 2013 to January 2020. Tumor complexity was graded according to radius exophytic/endophytic nearness anterior/posterior location nephrometry score.

Connectomes for 40,000 UK Biobank participants: A multi-modal, multi-scale brain network resource.

We mapped functional and structural brain networks for more than 40,000 UK Biobank participants. Structural connectivity was estimated with tractography and diffusion MRI. Resting-state functional MRI was used to infer regional functional connectivity.

Introduction of SGLT2 Inhibitors and Variations in Other Disease-Modifying Drugs in Heart Failure Patients: A Single-Centre Real-World Experience.

Background: The sodium-glucose cotransporter-2 inhibitors (SGLT2i) have emerged as a crucial therapeutic option for patients with chronic heart failure with reduced ejection fraction (HFrEF). The aim of this study was to evaluate, in a real-world population from a single centre, the feasibility of introducing SGLT2i and their interaction with other recommended drug classes.

Methods: Consecutive patients affected by chronic heart failure (CHF) were evaluated beginning in January 2022.