Magnetic Resonance Elastography for Breast Cancer Diagnosis Through the Assessment of Tissue Biomechanical Properties.

Background And Aim: Breast cancer and normal breast tissue exhibit different degrees of stiffness, indicating distinct biomechanical properties. Study results reveal that breast cancer tissue is several times stiffer than normal breast tissue. These variations can serve as indicative factors for imaging purposes.

Optimizing Multiparametric MRI Protocols for Prostate Cancer Detection: A Comprehensive Assessment Aligned with PI-RADS Guidelines.

Background And Aim: Multiparametric magnetic resonance imaging (mpMRI) is recognized as the most indicative method for diagnosing prostate cancer. The purpose of this narrative review is to provide a comprehensive evaluation aligned with the Prostate Imaging and Reporting Data System (PI-RADS) guidelines, offering an in-depth insight into the various MRI sequences used in a standard mpMRI protocol. Additionally, it outlines the critical technical requirements necessary to perform a standard mpMRI examination of the prostate, as defined by the PI-RADS specifications.

Practical Approach to Longitudinal Neurologic Care of Adults With X-Linked Adrenoleukodystrophy and Adrenomyeloneuropathy.

Although X-linked adrenoleukodystrophy (ALD) has historically been considered a childhood disease managed by pediatric neurologists, it is one of the most common leukodystrophies diagnosed in adulthood. An increase in both male and female adults reaching diagnosis due to familial cases identified by state newborn screening panels and more widespread use of genetic testing results in a large cohort of presymptomatic or early symptomatic adults. This population is in urgent need of standardized assessments and follow-up care.

Characterizing the antioxidant and antifungal properties of nano-encapsulated pistachio hull extract in fenugreek seed gum to maintain the quality and safety of fresh pistachio.

The quality of pistachio, one of the export products of Iran, will be decreased during storage as a result of mold spoilage, toxins production, and oil oxidation. This study aimed to investigate the capability of pistachio hull extract (PHE) loaded in fenugreek seed gum (FSG):whey protein isolate (WPI) nanoemulsion to control oil oxidation, and fungi growth in fresh pistachio nut during storage at 4°C. The total anthocyanin and total phenolic content of the PHE were 125.

Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophy.

Objective: Metachromatic leukodystrophy (MLD) is a rare neurodegenerative disorder. Emerging therapies are most effective in the presymptomatic phase, and thus defining this window is critical. We hypothesize that early development delay may precede developmental plateau.

Leriglitazone halts disease progression in adult patients with early cerebral adrenoleukodystrophy.

Cerebral adrenoleukodystrophy (CALD) is an X-linked rapidly progressive demyelinating disease leading to death usually within a few years. The standard of care is haematopoietic stem cell transplantation (HSCT), but many men are not eligible due to age, absence of a matched donor or lesions of the corticospinal tracts (CST). Based on the ADVANCE study showing that leriglitazone decreases the occurrence of CALD, we treated 13 adult CALD patients (19-67 years of age) either not eligible for HSCT (n = 8) or awaiting HSCT (n = 5).

International validation of meaningfulness of postural sway and gait to assess myeloneuropathy in adults with adrenoleukodystrophy.

Background: The most common manifestation of X-linked adrenoleukodystrophy (ALD) is a slowly progressive myeloneuropathy, which leads to imbalance and gait disturbances. The variable progression of the disease complicates evaluation of its progression rate. Wearable sensors allow for easy and frequent balance and gait collection.

Unsupervised MRI motion artifact disentanglement: introducing MAUDGAN.

This study developed an unsupervised motion artifact reduction method for magnetic resonance imaging (MRI) images of patients with brain tumors. The proposed novel design uses multi-parametric multicenter contrast-enhanced T1W (ceT1W) and T2-FLAIR MRI images.The proposed framework included two generators, two discriminators, and two feature extractor networks.

Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States.

Metachromatic leukodystrophy (MLD) is a fatal, progressive neurodegenerative disorder caused by biallelic pathogenic mutations in the ARSA (Arylsulfatase A) gene. With the advent of presymptomatic diagnosis and the availability of therapies with a narrow window for intervention, it is critical to define a standardized approach to diagnosis, presymptomatic monitoring, and clinical care. To meet the needs of the MLD community, a panel of MLD experts was established to develop disease-specific guidelines based on healthcare resources in the United States.

Longitudinal natural history studies based on real-world data in rare diseases: Opportunity and a novel approach.

Growing interest in therapeutic development for rare diseases necessitate a systematic approach to the collection and curation of natural history data that can be applied consistently across this group of heterogenous rare diseases. In this study, we discuss the challenges facing natural history studies for leukodystrophies and detail a novel standardized approach to creating a longitudinal natural history study using existing medical records. Prospective studies are uniquely challenging for rare diseases.

De novo variants in DENND5B cause a neurodevelopmental disorder.

The Rab family of guanosine triphosphatases (GTPases) includes key regulators of intracellular transport and membrane trafficking targeting specific steps in exocytic, endocytic, and recycling pathways. DENND5B (Rab6-interacting Protein 1B-like protein, R6IP1B) is the longest isoform of DENND5, an evolutionarily conserved DENN domain-containing guanine nucleotide exchange factor (GEF) that is highly expressed in the brain. Through exome sequencing and international matchmaking platforms, we identified five de novo variants in DENND5B in a cohort of five unrelated individuals with neurodevelopmental phenotypes featuring cognitive impairment, dysmorphism, abnormal behavior, variable epilepsy, white matter abnormalities, and cortical gyration defects.

MedFusionGAN: multimodal medical image fusion using an unsupervised deep generative adversarial network.

Purpose: This study proposed an end-to-end unsupervised medical fusion generative adversarial network, MedFusionGAN, to fuse computed tomography (CT) and high-resolution isotropic 3D T1-Gd Magnetic resonance imaging (MRI) image sequences to generate an image with CT bone structure and MRI soft tissue contrast to improve target delineation and to reduce the radiotherapy planning time.

Methods: We used a publicly available multicenter medical dataset (GLIS-RT, 230 patients) from the Cancer Imaging Archive. To improve the models generalization, we consider different imaging protocols and patients with various brain tumor types, including metastases.

MRI motion artifact reduction using a conditional diffusion probabilistic model (MAR-CDPM).

Background: High-resolution magnetic resonance imaging (MRI) with excellent soft-tissue contrast is a valuable tool utilized for diagnosis and prognosis. However, MRI sequences with long acquisition time are susceptible to motion artifacts, which can adversely affect the accuracy of post-processing algorithms.

Purpose: This study proposes a novel retrospective motion correction method named "motion artifact reduction using conditional diffusion probabilistic model" (MAR-CDPM).

Clinical and functional consequences of GRIA variants in patients with neurological diseases.

AMPA receptors are members of the glutamate receptor family and mediate a fast component of excitatory synaptic transmission at virtually all central synapses. Thus, their functional characteristics are a critical determinant of brain function. We evaluate intolerance of each GRIA gene to genetic variation using 3DMTR and report here the functional consequences of 52 missense variants in GRIA1-4 identified in patients with various neurological disorders.

Core protocol development for phase 2/3 clinical trials in the leukodystrophy vanishing white matter: a consensus statement by the VWM consortium and patient advocates.

Background: The leukodystrophy "Vanishing White Matter" (VWM) is an orphan disease with neurological decline and high mortality. Currently, VWM has no approved treatments, but advances in understanding pathophysiology have led to identification of promising therapies. Several investigational medicinal products are either in or about to enter clinical trial phase.

Patient-specific geometrical distortion corrections of MRI images improve dosimetric planning accuracy of vestibular schwannoma treated with gamma knife stereotactic radiosurgery.

Purpose: To investigate the impact of MRI patient-specific geometrical distortion (PSD) on the quality of Gamma Knife stereotactic radiosurgery (GK-SRS) plans of the vestibular schwannoma (VS) tumors.

Methods And Materials: Three open access datasets including the MPI-Leipzig Mind-Brain-Body (318 patients), the slow event-related fMRI designs dataset (62 patients), and the VS dataset (242 patients) were used. We used first two datasets to train a 3D convolution network to predict the distortion map of third dataset that were then used to calculate and correct the PSD.

A Phase 1 Study of Oral Vitamin D in Boys and Young Men With X-Linked Adrenoleukodystrophy.

Background And Objectives: There are no therapies for preventing cerebral demyelination in X-linked adrenoleukodystrophy (ALD). Higher plasma vitamin D levels have been linked to lower risk of inflammatory brain lesions. We assessed the safety and pharmacokinetics of oral vitamin D dosing regimens in boys and young men with ALD.

Cation leak through the ATP1A3 pump causes spasticity and intellectual disability.

ATP1A3 encodes the α3 subunit of the sodium-potassium ATPase, one of two isoforms responsible for powering electrochemical gradients in neurons. Heterozygous pathogenic ATP1A3 variants produce several distinct neurological syndromes, yet the molecular basis for phenotypic variability is unclear. We report a novel recurrent variant, ATP1A3(NM_152296.

Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrity.

Sphingolipids function as membrane constituents and signaling molecules, with crucial roles in human diseases, from neurodevelopmental disorders to cancer, best exemplified in the inborn errors of sphingolipid metabolism in lysosomes. The dihydroceramide desaturase Δ4-dihydroceramide desaturase 1 (DEGS1) acts in the last step of a sector of the sphingolipid pathway, de novo ceramide biosynthesis. Defects in DEGS1 cause the recently described hypomyelinating leukodystrophy-18 (HLD18) (OMIM #618404).

Mutations in DARS2 result in global dysregulation of mRNA metabolism and splicing.

Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL) is a rare neurological disorder caused by the mutations in the gene, which encodes the mitochondrial aspartyl-tRNA synthetase. The objective of this study was to understand the impact of mutations on cell processes through evaluation of LBSL patient stem cell derived cerebral organoids and neurons. We generated human cerebral organoids (hCOs) from induced pluripotent stem cells (iPSCs) of seven LBSL patients and three healthy controls using an unguided protocol.

Safety and efficacy of leriglitazone for preventing disease progression in men with adrenomyeloneuropathy (ADVANCE): a randomised, double-blind, multi-centre, placebo-controlled phase 2-3 trial.

Background: Adult patients with adrenoleukodystrophy have a poor prognosis owing to development of adrenomyeloneuropathy. Additionally, a large proportion of patients with adrenomyeloneuropathy develop life-threatening progressive cerebral adrenoleukodystrophy. Leriglitazone is a novel selective peroxisome proliferator-activated receptor gamma agonist that regulates expression of key genes that contribute to neuroinflammatory and neurodegenerative processes implicated in adrenoleukodystrophy disease progression.