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Background/objectives: Bone marrow (BM) adipocytes are critical in progressing solid tumor metastases and hematological malignancies across pediatric to aging populations. Single-point biopsies remain the gold standard for monitoring BM diseases, including hematologic malignancies, but are limited in capturing the full complexity of loco-regional and global BM microenvironments. Non-invasive imaging techniques like Magnetic Resonance Imaging (MRI), could offer valuable alternatives for real-time evaluation of BM diseases in both preclinical translational and clinical studies.
View Article and Find Full Text PDFClinical Problem Solving: Two Patients With Gait Instability and Difficulty With Hand Coordination.
Neurohospitalist
January 2025
Instructor in Neurology, Harvard Medical School and Attending Physician, Stroke Division, Brigham & Women's Hospital, Boston, MA, USA.
Subacute-to-chronic gait instability has a broad differential diagnosis. The neurological exam can help elucidate the localization and suggest an underlying etiology of the symptomatology, which can lead to a more focused diagnostic approach. Two patients are described - 1 with a month of worsening difficulty with ambulation that evolved to bilateral hand discoordination and another with 18 months of progressive difficulty with ambulation that also then progressed to involve her bilateral hands.
View Article and Find Full Text PDFArtificial enforcement of the unfolded protein response (UPR) reduces disease features in multiple preclinical models of ALS/FTD.
Mol Ther
January 2025
Program of Cellular and Molecular Biology, Biomedical Sciences Institute (ICBM), Universidad de Chile, Santiago, Chile; Biomedical Neuroscience, Faculty of Medicine, Universidad de Chile, Santiago, Chile; FONDAP Center for Geroscience, Brain Health and Metabolism, Santiago, Chile; Buck Institute for Research on Aging, Novato, CA, USA. Electronic address:
Amyotrophic lateral sclerosis (ALS) and fronto-temporal dementia (FTD) are part of a spectrum of diseases that share several causative genes, resulting in a combinatory of motor and cognitive symptoms and abnormal protein aggregation. Multiple unbiased studies have revealed that proteostasis impairment at the level of the endoplasmic reticulum (ER) is a transversal pathogenic feature of ALS/FTD. The transcription factor XBP1s is a master regulator of the unfolded protein response (UPR), the main adaptive pathway to cope with ER stress.
View Article and Find Full Text PDFAmyotrophic lateral sclerosis in a patient with chronic lymphocytic leukaemia and drug related sarcoid-like reaction.
BMC Neurol
January 2025
Department of Neurology, Wessex Neurological Centre, University Hospital Southampton, Southampton, UK.
Article Synopsis
- Sarcoid-like reaction (SLR) is an immune response affecting lymph nodes and organs, which doesn't fulfill the criteria for systemic sarcoidosis, and can be associated with certain diseases like Chronic lymphocytic leukaemia (CLL) and Amyotrophic lateral sclerosis (ALS).
- A 60-year-old male patient with treated CLL developed ALS symptoms following exposure to Venetoclax and Rituximab, presenting with rashes and weakness that progressed over a year.
- Diagnosis complications included atypical signs and symptoms, leading to misdiagnosis of neurosarcoidosis and challenges in treatment, despite initial interventions with prednisolone and infliximab.
Longitudinal analysis of anthropometric measures over 5 years in patients with Friedreich ataxia in the EFACTS natural history study.
Eur J Neurol
January 2025
Department of Neurology, RWTH Aachen University, Aachen, Germany.
Background: Friedreich ataxia is a rare neurodegenerative disorder caused by frataxin deficiency. Both underweight and overweight occur in mitochondrial disorders, each with adverse health outcomes. We investigated the longitudinal evolution of anthropometric abnormalities in Friedreich ataxia and the hypothesis that both weight loss and weight gain are associated with faster disease progression.
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