Multigene panel testing has allowed for the detection of a growing number of inherited pathogenic/likely pathogenic variants in people at high risk of cancer, including endometrial cancer (EC). Hereditary syndromes associated with EC include Lynch syndrome, PTEN hamartoma tumor syndrome, and Peutz-Jeghers syndrome. This manuscript provides the latest recommendations from the NCCN Guidelines for Genetic/Familial High-Risk Assessment: Colorectal, Endometrial, and Gastric on the screening and management of EC in patients at high risk for these syndromes, as well as the advantages and limitations of multigene panel testing.
View Article and Find Full Text PDFThe choroid plexus (CP), a highly vascularized structure within the ventricles of the brain, has come under increased scrutiny over the last several years as potentially having a role in the pathophysiology of multiple sclerosis (MS). Originally consider as being only responsible for the production of cerebrospinal fluid, it is now widely recognized that the CP is also involved in immunosurveillance and immune cell trafficking. Histopathology studies have found several immunological changes in donor tissue, including the accumulation of inflammatory cells.
View Article and Find Full Text PDFBackground: The deep gray matter (DGM), especially the pulvinar, and the white matter surrounding chronic active lesions have demonstrated depleted iron levels, indicating a possible mechanistic link. However, no studies have investigated the potential relationship between these phenomena.
Objectives: The study aimed to determine whether PRLs were associated with pulvinar iron depletion and, if so, whether this relationship was spatially mediated.
Objective: Baseline paramagnetic rim lesion (PRL) load predicts disease progression in people with multiple sclerosis (pwMS). Understanding how PRLs relate to other known MS-related factors, and the practical utility of PRLs in clinical trials, is crucial for informing clinical decision-making and guiding development of novel disease-modifying treatments (DMTs).
Methods: This study included 152 pwMS enrolled in a larger prospective, longitudinal cohort study who had 3T MRI scans and clinical assessments at baseline and 5- or 10-year follow-ups.
Although medical advancements have improved the mortality of CHD, morbidity still exists, impacting patient quality of life. Returning to baseline in the early surgical recovery phase is an area of potential improvement. This preliminary project aims to qualitatively understand CHD family perspectives concerning the immediate postoperative recovery phase.
View Article and Find Full Text PDFBackground And Objectives: Recent technological advances have enabled visualizing in vivo a subset of chronic active brain lesions in persons with multiple sclerosis (pwMS), referred to as "paramagnetic rim lesions" (PRLs), with iron-sensitive MRI. PRLs predict future clinical disease progression, making them a promising clinical and translational imaging marker. However, it is unknown how disease progression is modified by PRL evolution (PRL disappearance, new PRL appearance).
View Article and Find Full Text PDFChoroid plexus (CP) inflammation can be quantified in vivo with MRI in people with multiple sclerosis (pwMS). It remains unknown whether Epstein Barr Virus (EBV) is related to CP changes. Total of 170 pwMS (116 relapsing-remitting; RRMS and 54 progressive MS; PMS) underwent MRI examination and measurement of humoral anti-EBV response.
View Article and Find Full Text PDFIntroduction: Brain atrophy is a well-established MRI outcome for predicting clinical progression and monitoring treatment response in persons with multiple sclerosis (pwMS) at the group level. Despite the important progress made, the translation of brain atrophy assessment into clinical practice faces several challenges.
Areas Covered: In this review, the authors discuss technical- and subject-related barriers for implementing brain atrophy assessment as part of the clinical routine at the individual level.
Background: Substantial physical-disability worsening in relapsing-remitting multiple sclerosis (RRMS) occurs outside of clinically recorded relapse. This phenomenon, termed progression independent of relapse activity (PIRA), is yet to be established for cognitive decline.
Methods: Retrospective analysis of RRMS patients.
G protein-coupled receptors (GPCRs) couple to heterotrimeric G proteins, comprised of and γ subunits, to convert extracellular signals into activation of intracellular signaling pathways. Canonically, GPCR-mediated activation results in the exchange of GDP for GTP on G protein subunits (G) and the dissociation of G-GTP and G protein subunits (G), both of which can regulate a variety of signaling pathways. Hydrolysis of bound GTP by G returns the protein to G-GDP and allows reassociation with G to reform the inactive heterotrimer.
View Article and Find Full Text PDFClin Biomech (Bristol)
August 2024
Background: Females with acetabular dysplasia and/or labral tears (hip pain) exhibit altered walking kinematics, with studies reporting mixed results in sagittal and frontal planes compared to pain-free controls, often conducting only discrete analyses and warranting further investigation. The objective of this study was to investigate discrete and continuous hip and pelvic kinematics between females with and without hip pain in two walking conditions.
Methods: We collected kinematic walking data from 69 females (35 with hip pain, 34 controls) using motion capture and an instrumented treadmill in two conditions: preferred and fast (125% preferred).
Background: People with multiple sclerosis (pwMS) have greater prevalence of comorbid cardiovascular diseases (CVD) when compared to the general population despite similar frequency of CV risk factors.
Objective: Determine the impact of comorbid-onset of CVD diagnosis on long-term confirmed disability progression (CDP).
Methods: 276 pwMS (29 clinically isolated syndrome, 130 relapsing-remitting and 117 progressive) were clinically followed an average of 14.
Increased choroid plexus (CP) volume has been recently implicated as a potential predictor of worse multiple sclerosis (MS) outcomes. The biomarker signature of CP changes in MS are currently unknown. To determine the blood-based biomarker characteristics of the cross-sectional and longitudinal MRI-based CP changes in a heterogeneous group of people with MS (pwMS), a total of 202 pwMS (148 pwRRMS and 54 pwPMS) underwent MRI examination at baseline and at a 5-year follow-up.
View Article and Find Full Text PDFBackground: The oncology care environment includes a wide range of traumatic physical and emotional experiences that can be challenging for patients and healthcare providers.
Objectives: This article aims to establish a knowledge base about the trauma-informed care (TIC) approach in oncology care.
Methods: This article provides a literature-based overview of TIC as a model of care for patients with cancer, informed by definitions of trauma, post-traumatic stress disorder, and adverse childhood experiences.
Background: Because secondary progressive multiple sclerosis (SPMS) is associated with worse prognosis, early predictive tools are needed. We aimed to use systematic literature review and advanced methods to create and validate a clinical tool for estimating individual patient risk of transition to SPMS over five years.
Methods: Data from the Jacobs Multiple Sclerosis Center (JMSC) and the Multiple Sclerosis Center Amsterdam (MSCA) was collected between 1994 and 2022.
Cognitive impairment is common in multiple sclerosis and negatively impacts quality of life. Cognitive status has yet to be described in people with severe progressive multiple sclerosis, in whom conventional neuropsychological testing is exceptionally difficult. The objective for the study was to characterize cognitive performance in severe progressive multiple sclerosis and compare them with age-, sex- and disease duration-matched less disabled people with multiple sclerosis using a specifically developed auditory, non-motor test of attention/cognitive processing speed-Auditory Test of Processing Speed.
View Article and Find Full Text PDFNeuroimaging Clin N Am
August 2024
Multiple sclerosis (MS) is increasingly understood not only as a white matter disease but also involving both the deep and cortical gray matter (GM). GM pathology in people with MS (pwMS) includes the presence of lesions, leptomeningeal inflammation, atrophy, altered iron concentration, and microstructural changes. Studies using 7T and 3T MR imaging with optimized protocols established that GM damage is a principal driver of disease progression in pwMS.
View Article and Find Full Text PDFBackground: Brain hypoperfusion is linked with worse physical, cognitive and MRI outcomes in multiple sclerosis (MS). Understanding the proteomic signatures related to hypoperfusion could provide insights into the pathophysiological mechanism.
Methods: 140 people with MS (pwMS; 86 clinically isolated syndrome (CIS)/relapsing-remitting (RRMS) and 54 progressive (PMS)) were included.
Magnetic resonance imaging of the brain is a useful tool in both the clinic and research settings, aiding in the diagnosis and treatments of neurological disease and expanding our knowledge of the brain. However, there are many challenges inherent in managing and analyzing MRI data, due in large part to the heterogeneity of data acquisition. To address this, we have developed MRIO, the Magnetic Resonance Imaging Acquisition and Analysis Ontology.
View Article and Find Full Text PDFBackground: Atrophied lesion volume (aLV), a proposed biomarker of disability progression in multiple sclerosis (MS) and transition into progressive MS (PMS), depicts chronic periventricular white matter (WM) pathology. Meningeal infiltrates, imaged as leptomeningeal contrast enhancement (LMCE), are linked with greater cortical pathology.
Objectives: To determine the relationship between serum-derived proteomic data with the development of aLV and LMCE in a heterogeneous group of people with MS (pwMS).