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COL4A2-Related Disorder Presenting in Adulthood With Rhabdomyolysis.
Am J Med Genet A
December 2024
Department of Clinical Genomics, Mayo Clinic, Scottsdale, Arizona, USA.
The alpha 1 and 2 chains of type IV collagen, encoded by the COL4A1 (MIM 120130) and COL4A2 (MIM 120090) respectively, play essential roles in the vascular basement membranes. Pathogenic variants in COL4A1/ COL4A2 are associated with autosomal dominant cerebral angiopathies. The clinical manifestations of COL4A1/COL4A2-related disorders include: aneurysms, intracerebral hemorrhage, polymicrogyria, porencephaly, heterotopia, periventricular leukomalacia, epilepsy, and neurodevelopmental disorders.
View Article and Find Full Text PDFProtective effects of the PPAR agonist bezafibrate against disruption of redox and energy homeostasis, neuronal death, astroglial reactivity, and neuroinflammation induced in vivo by D-2-hydroxyglutaric acid in rat brain.
Eur J Pharmacol
January 2025
Postgraduation Program in Biological Sciences: Biochemistry, Institute of Basic Health Sciences, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, 90035-007, Brazil. Electronic address:
The biochemical hallmark of D-2-hydroxyglutaric aciduria is brain accumulation of D-2-hydroxyglutaric acid (D2HG). Patients present predominantly neurological manifestations, whose pathogenesis is still unknown. Thus, we examined the impact of elevated brain levels of D2HG, induced by intracerebral injection of this metabolite in juvenile rats, on redox and mitochondrial homeostasis and histochemical landmarks in the cerebral cortex.
View Article and Find Full Text PDFIncrease of primary intracranial sarcoma in children: Clinical manifestations, diagnosis, and management.
Surg Neurol Int
November 2024
Department of Neurosurgery Oncology, Latinoamerica Valerio Foundation, Weston, Florida, United States.
Background: Primary intracranial sarcomas (PISs) are very rare malignant tumors, and there is paucity of data on it, exclusively in patients <18 years old. We report pediatric PIS at a tertiary hospital in Peru, where the incidence of PIS has increased in recent years.
Methods: We retrospectively analyzed data in children diagnosed with PIS based on clinical presentation, imaging studies, and histopathology between January 2020 and December 2023.
Genetic Mutations in Cell Junction Proteins Associated with Brain Calcification.
Mov Disord
December 2024
Department of Neurology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China.
Article Synopsis
- Intracerebral calcium deposition includes primary familial brain calcification (PFBC), which leads to motor decline, speech difficulties, and cognitive issues, with limited treatment options available.* -
- Recent findings link PFBC to blood-brain barrier dysfunction, influenced by genetic variants that affect the neurovascular unit (NVU), leading to brain calcification.* -
- The review examines literature on genetic mutations in cell junction proteins related to brain calcification, aiming to identify molecular pathways and support the need for molecular subtyping in understanding this condition.*
Dramatic Reanimation and Spontaneous Re-Canalization of a Fourth Ventricular Hemorrhage: "REVIVE" Phenomenon.
Neurohospitalist
October 2024
Departments of Neurological Surgery, Neurology and Critical care, Mayo Clinic, Jacksonville, Florida, USA.
Background: Intraventricular hemorrhage is a calamitous type of stroke where bleeding into the ventricular system can be defined as: primary, if confined within the ventricles; or secondary, due to intracerebral hemorrhage extending from adjacent parenchyma. Intraventricular blood clot can lead to secondary insult and inflammatory responses that culminates in hydrocephalus as the most common cause of death.
Purpose: THerein, we report a patient with a high modified Graeb scale and low Glasgow coma scale.
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