We report two cases in the same family of progressive neuronal degeneration of childhood--Alpers syndrome--with prenatal MRI findings in one case. The first infant presented at birth with severe microcephaly, then rapidly evolved to progressive encephalopathy with refractory epilepsy, leading to death at 10 months. Biochemical investigations including liver function tests were normal. CT and MRI showed severe diffuse brain atrophy. The diagnosis of progressive neuronal degeneration of childhood was made on the clinical and imaging data. The second pregnancy was marked by gradual decrease of fetal cerebral biometry and a prenatal MRI performed at 32 weeks showed diffuse cortical atrophy, as observed in the sibling. The infant died at 5 months. Neuropathological findings were consistent with Alpers syndrome.
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http://dx.doi.org/10.1002/pd.1128 | DOI Listing |
Nano Lett
January 2025
CAS Key Laboratory for Biomedical Effects of Nanomaterials and Nanosafety, CAS Center for Excellence in Nanoscience, National Center for Nanoscience and Technology, Beijing 100190, P. R. China.
Pancreatic ductal adenocarcinoma (PDAC) remains an aggressive malignancy. The occurrence of perineural invasion is associated with neuropathic pain and poor prognosis of PDAC, underscoring the active participation of nerves and their potential as therapeutic targets. Lidocaine is a local anesthetic with antitumor properties in some tumors in the clinic.
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Key Laboratory of Spine and Spinal Cord Injury Repair and Regeneration of Ministry of Education, Department of Orthopedics, Tongji Hospital affiliated to Tongji University, School of Life Science and Technology, Tongji University, Shanghai, China.
Stem cell-derived spinal cord organoids (SCOs) have revolutionised the study of spinal cord development and disease mechanisms, offering a three-dimensional model that recapitulates the complexity of native tissue. This review synthesises recent advancements in SCO technology, highlighting their role in modelling spinal cord morphogenesis and their application in neurodegenerative disease research. We discuss the methodological breakthroughs in inducing regional specification and cellular diversity within SCOs, which have enhanced their predictive ability for drug screening and their relevance in mimicking pathological conditions such as neurodegenerative diseases and neuromuscular disorders.
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January 2025
Department of Pediatric Surgery, Medical Faculty of Mannheim, University of Heidelberg, Mannheim, Germany.
Hirschsprung's disease (HSCR) is characterized by congenital absence of ganglion cells in the gastrointestinal tract, which leads to impaired defecation, constipation and intestinal obstruction. The current diagnosis of HSCR is based on Rectal Suction Biopsies (RSBs), which could be complex in newborns. Occasionally, there is a delay in diagnosis that can increase the risk of clinical complications.
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February 2024
Department of Neurology and National Research Center for Aging and Medicine & National Center for Neurological Disorders, State Key Laboratory of Medical Neurobiology, Huashan Hospital, Fudan University, Shanghai 200040, China.
Transmembrane protein 106B (TMEM106B), previously identified as a risk factor in frontotemporal lobar degeneration, has recently been detected to form fibrillar aggregates in the brains of patients with various neurodegenerative diseases (NDs) and normal elders. While the specifics of when and where TMEM106B fibrils accumulate in human brains, as well as their connection to aging and disease progression, remain poorly understood. Here, we identified an antibody (NBP1-91311) that directly binds to TMEM106B fibrils extracted from the brain and to Thioflavin S-positive TMEM106B fibrillar aggregates in brain sections.
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January 2025
Department of Neuroscience, Istituto di Ricerche Farmacologiche Mario Negri IRCCS, Via Mario Negri 2, 20156, Milan, Italy.
Deposition of abnormally phosphorylated tau aggregates is a central event leading to neuronal dysfunction and death in Alzheimer's disease (AD) and other tauopathies. Among tau aggregates, oligomers (TauOs) are considered the most toxic. AD brains show significant increase in TauOs compared to healthy controls, their concentration correlating with the severity of cognitive deficits and disease progression.
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