Introduction: Meningiomas are the most common primary central nervous system (CNS) tumor in adults, comprising one-third of all primary adult CNS tumors. Although several recent publications have identified molecular alterations in meningioma including characteristic mutations, copy number alterations, and gene expression signatures, our understanding of the drivers of meningioma recurrence is limited.
Objective: To identify gene expression signatures of 1p22qNF2 meningioma recurrence, with concurrent biallelic inactivation of and loss of chr1p that are heterogenous but enriched for recurrent meningiomas.
This systematic review consolidates the literature on primary extradural meningiomas (PEMs), a rare subset of meningiomas. We describe the clinical features, management strategies used, and treatment outcomes for published cases. A systematic review was conducted using PRISMA guidelines across multiple databases to 29 July 2024.
View Article and Find Full Text PDFWe describe our winning submission to the first Critical Assessment of Computational Hit-Finding Experiments (CACHE) challenge. In this challenge, 23 participants employed a diverse array of structure-based methods to identify hits to a target with no known ligands. We utilized two methods, pharmacophore search and molecular docking, to identify our initial hit list and compounds for the hit expansion phase.
View Article and Find Full Text PDFDeep generative models that produce novel molecular structures have the potential to facilitate chemical discovery. Flow matching is a recently proposed generative modeling framework that has achieved impressive performance on a variety of tasks including those on biomolecular structures. The seminal flow matching framework was developed only for continuous data.
View Article and Find Full Text PDFHere, we describe a spontaneous mouse mutant with a deletion in a predicted gene 2310061I04Rik (Rik) of unknown function located on chromosome 17. A 59 base pair long deletion occurred in the first intron of the Rik gene and disrupted its expression. Riknull mice were born healthy and appeared anatomically normal up to two weeks of age.
View Article and Find Full Text PDFInternalizing disorders are common in lesbian, gay, bisexual, transgender, queer, questioning, and otherwise non-heterosexual or non-cisgender (LGBTQ+) people. Few studies have evaluated the efficacy of cognitive behavior therapy (CBT), a well-established treatment for internalizing disorders, in LGBTQ+ people. The current study quantitatively synthesized outcomes from existing trials of CBT for internalizing disorders in LGBTQ+ people.
View Article and Find Full Text PDFBackground: Primary non-Hodgkin's lymphoma arising from the skull base is a rare entity most commonly subclassified as diffuse large B-cell lymphoma (DLBCL). This lesion often arises from the clivus and demonstrates a cranial nerve (CN) VI palsy. In this case report and literature review, we document the clinical presentation and management of a case of clival DLBCL, along with a review of current literature pertaining to DLBCL of the skull base.
View Article and Find Full Text PDFThe CACHE challenges are a series of prospective benchmarking exercises to evaluate progress in the field of computational hit-finding. Here we report the results of the inaugural CACHE challenge in which 23 computational teams each selected up to 100 commercially available compounds that they predicted would bind to the WDR domain of the Parkinson's disease target LRRK2, a domain with no known ligand and only an apo structure in the PDB. The lack of known binding data and presumably low druggability of the target is a challenge to computational hit finding methods.
View Article and Find Full Text PDFObjectives: To consider teamworking in dentistry, focusing especially on the role of dental hygienists (DHs) and dental therapists (DTs) as part of the dental team.
Methods: A narrative review of studies that have investigated teamworking in periodontology and dentistry in general together with consideration of examples of relevant regulatory and governmental policy documents.
Results: The inclusion of DHs and DTs as key members of the dental team yields significant patient benefits in terms of access to care (particularly among under-served populations), efficient and effective treatment and improved healthcare outcomes for patients.
Objective: Mixed gangliocytoma-pituitary adenomas (MGPAs) are very rare sellar neoplasms. Contemporary understanding of their natural history, clinical characteristics, optimal management strategies, and prototypical outcomes remains poorly understood.
Methods: Following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines, PubMed, Embase, Web of Science, and Cochrane were searched to include studies of patients with histologically confirmed mixed gangliocytomas.
The lateral supraorbital (LSO) approach is a less-invasive alternative to the pterional craniotomy that provides rapid transsylvian access. Establishing familiarity with the LSO technique and its features as compared with other anterolateral approaches is an important component of advanced skull base training. We present a step-by-step demonstration of the LSO approach using cadaveric dissection in a manner that is digestible for trainees at various levels.
View Article and Find Full Text PDF1. The aim of this work was to identify a heritable keel bone phenotype with a correlation to keel bone damage and/or skeletal bone strength that could be easily measured in the living hen to aid selection to prevent welfare issues.2.
View Article and Find Full Text PDFInt J Transgend Health
November 2023
Egg-laying performance is of great economic importance in poultry, but the underlying genetic mechanisms are still elusive. In this work, we conduct a multi-omics and multi-tissue integrative study in hens with distinct egg production, to detect the hub candidate genes and construct hub molecular networks contributing to egg-laying phenotypic differences. We identifiy three hub candidate genes as egg-laying facilitators: TFPI2, which promotes the GnRH secretion in hypothalamic neuron cells; CAMK2D, which promotes the FSHβ and LHβ secretion in pituitary cells; and OSTN, which promotes granulosa cell proliferation and the synthesis of sex steroid hormones.
View Article and Find Full Text PDFChordomas, arising from notochord remnants, are rare neoplasms with aggressive growth patterns despite their histologically low-grade nature. This review explores their embryological origins, molecular markers like brachyury, and genetic alterations driving pathogenesis. Diagnosis relies on advanced imaging and biopsy confirmation due to overlapping features with chondrosarcoma.
View Article and Find Full Text PDFThe ability to participate in clinical scholarship is a foundational component of modern evidence-based medical practice, empowering improvement across essentially every aspect of clinical care. In tandem, the need for comprehensive exposure to clinical research has been identified as a critical component of medical student training and preparation for residency that is underserved by traditional undergraduate medical education models. The goal of the current work was to provide guidelines and recommendations to assist novice medical students in taking ownership of their research education.
View Article and Find Full Text PDFDiffusion generative models have emerged as a powerful framework for addressing problems in structural biology and structure-based drug design. These models operate directly on 3D molecular structures. Due to the unfavorable scaling of graph neural networks (GNNs) with graph size as well as the relatively slow inference speeds inherent to diffusion models, many existing molecular diffusion models rely on coarse-grained representations of protein structure to make training and inference feasible.
View Article and Find Full Text PDFDeep generative models that produce novel molecular structures have the potential to facilitate chemical discovery. Diffusion models currently achieve state of the art performance for 3D molecule generation. In this work, we explore the use of flow matching, a recently proposed generative modeling framework that generalizes diffusion models, for the task of de novo molecule generation.
View Article and Find Full Text PDFBackground: Caregiving for the adult benign brain tumor (aBBT) population is unique, as patients' extended period of survivorship poses significant challenges related to the long-term sequelae of the disease and the foreboding possibility of recurrence. In this integrative review, we examined the caregiving experience across the spectrum of the aBBT population.
Methods: We searched OVID, CINAHL, and PubMed databases from 2000 to 2022.
Objective: This study describes an innovative optic nerve MRI protocol for better delineating optic nerve anatomy from neighboring pathology.
Methods: Twenty-two patients undergoing MRI examination of the optic nerve with the dedicated protocol were identified and included for analysis of imaging, surgical strategy, and outcomes. T2-weighted and fat-suppressed T1-weighted gadolinium-enhanced images were acquired perpendicular and parallel to the long axis of the optic nerve to achieve en face and in-line views along the course of the nerve.
Determining the death burden for prioritising public health interventions necessitates detailed data on the causal pathways to death. Postmortem minimally invasive tissue sampling (MITS), incorporating histology, molecular and microbial culture diagnostics, enhances cause-of-death attribution, particularly for infectious deaths. MITS proves a valid alternative to full diagnostic autopsies, especially in low- and middle-income countries.
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