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Progressive supranuclear palsy: an updated approach on diagnosis, treatment, risk factors and outlook in Mexico.
Gac Med Mex
January 2025
Laboratorio de Reprogramación Celular y Enfermedades Crónico-Degenerativas, Department of Physiology, Universidad Nacional Autónoma de México, Mexico City, Mexico.
Progressive supranuclear palsy (PSP) is a rare, atypical parkinsonism, characterized by the presence of intracerebral tau protein aggregates and determined by a wide spectrum of clinical features. The definitive diagnosis is postmortem and is identified through the presence of neuronal death, gliosis, and aggregates of the tau protein presented in the form of neurofibrillary tangles (MNF) with a globose appearance in regions such as the subthalamic nucleus, the substantia nigra, and the globus pallidus The findings in ancillary imaging studies, as well as fluids biomarkers, are not sufficient to support diagnosis of PSP but are used to rule out similar pathologies because there are still no specific or validated biomarkers for this disease. The current treatment of PSP is focused on reducing symptoms, although emerging therapies seek to counteract its pathophysiological mechanisms.
View Article and Find Full Text PDFHemorrhagic astroblastoma: atypical presentation of a rare tumor. Illustrative case.
J Neurosurg Case Lessons
January 2025
Neurosurgery Department, Palmetto General Hospital, Hialeah, Florida.
Background: Astroblastoma is an extremely rare tumor of the central nervous system, and its origin and validity as a different entity are still being debated. Because of its rarity and similarities to other glial neoplasms, it is often misdiagnosed, impacting treatment and outcomes.
Observations: Astroblastoma is very rare and mainly affects children and young adults.
Communicating hydrocephalus following stereotactic radiosurgery for periventricular meningiomas: illustrative cases.
J Neurosurg Case Lessons
January 2025
Victor Horsley Department of Neurosurgery, National Hospital for Neurology and Neurosurgery, University College London Hospitals, London, United Kingdom.
Background: Stereotactic radiosurgery (SRS) is a well-established option for the management of intracranial tumors, including meningiomas. Although valued for its low invasiveness and precision, it still carries a risk of complications. Communicating hydrocephalus is a serious, albeit rarely reported, complication of SRS.
View Article and Find Full Text PDFDescriptive epidemiology and prognostic factors of atypical teratoid/rhabdoid tumors in the United States, 2001-2021.
Neurosurg Rev
January 2025
Department of Neurosurgery, The First Hospital of Jilin University, Changchun, China.
Atypical teratoid rhabdoid tumor (AT/RT) is a rare embryonal central nervous system tumor with a dismal prognosis that occurs mostly in early childhood. Since recent epidemiological and prognostic information is limited, we aimed to describe and analyze AT/RT-related incidences, temporal trends and prognostic factors. Incidence and survival data between 2001 and 2021 were extracted from the Surveillance, Epidemiology, and End Results (SEER) database.
View Article and Find Full Text PDFThe role of lysosomal acid lipase deficiency in dyslipidemia and liver disorders.
Rev Esp Enferm Dig
January 2025
Digestive Diseases, Hospital Universitario Virgen de las Nieves, España.
Cholesterol ester storage disease (CESD) is a rare autosomal recessive lysosomal storage disorder caused by mutations in the LIPA gene, leading to reduced lysosomal acid lipase activity, cholesterol ester accumulation, and systemic manifestations including liver dysfunction and dyslipidemia. We report the case of a 25-year-old male presenting with subacute jaundice, hyperbilirubinemia (total bilirubin 51 mg/dL, predominantly direct), and dyslipidemia characterized by elevated total cholesterol and low HDL cholesterol levels. Initial diagnostic workup for acute hepatitis and liver dysfunction, including serological and imaging studies, was unremarkable.
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