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| http://dx.doi.org/10.1016/j.jdcr.2017.12.009 | DOI Listing |
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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
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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.
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The role of lysosomal acid lipase deficiency in dyslipidemia and liver disorders.
Rev Esp Enferm Dig
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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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Department of Emergency, Peking University People's Hospital, Beijing, China.
Secondary hemophagocytic lymphohistiocytosis (sHLH) is a rare, rapidly progressive and highly lethal disease. This retrospective cohort study aims to analyze the factors influencing the mortality risk in adult patients with sHLH, which are instrumental to improving our understanding of the high mortality risks associated with sHLH. This study included 85 patients diagnosed with sHLH who were admitted and treated in the Department of Emergency, Peking University People's Hospital between April 2015 and July 2023.
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J Thorac Dis
December 2024
Department of Thoracic Surgery, Affiliated Hospital of Nantong University, Nantong, China.
Background: Non-tuberculous mycobacterial lung disease may coexist or precede lung cancer, yet a causal link remains unproven. This study aimed to elucidate the causal association between non-tuberculous mycobacteria (NTM) and lung cancer.
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