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| http://dx.doi.org/10.1016/j.htct.2019.01.003 | DOI Listing |
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Undiagnosed Schizencephaly Presenting as Breakthrough Seizures.
Clin Pract Cases Emerg Med
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Stony Brook Medicine, Department of Emergency Medicine, Stony Brook, New York.
Case Presentation: A 19-year-old male presented for evaluation of breakthrough seizures after inability to refill his medication following recent immigration from Haiti. Previously, the patient had never received neuroimaging due to financial constraints and resource scarcity. Computed tomography and magnetic resonance imaging obtained in the emergency department was significant for large right frontoparietal open-lip schizencephaly with mass effect, a rare congenital neurologic disorder previously undiagnosed in this patient with intractable epilepsy.
View Article and Find Full Text PDFNeuronal ceroid lipofuscinoses type 7 (CLN7): a case series reporting cross sectional and retrospective clinical data to evaluate validity of standardized tools to assess disease progression, quality of life, and adaptive skills.
Orphanet J Rare Dis
December 2024
Department of Pediatrics, University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd, Dallas, TX, 75390, USA.
Background: This study evaluated the clinical characteristics of neuronal ceroid lipofuscinosis type 7 or CLN7 disease spectrum to characterize the clinical, electrophysiologic and neuroimaging phenotypes.
Methods: We performed a single-center cross sectional data collection along with retrospective medical chart review in patients with a genetic diagnosis of CLN7. This study received ethical approval by the University of Texas Southwestern Medical Center Institutional Review Board.
Differential late-stage face processing in autism: a magnetoencephalographic study of fusiform gyrus activation.
BMC Psychiatry
December 2024
Gillberg Neuropsychiatry Centre, Department of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.
Background: Autism is associated with alterations of social communication, such as during face-to-face interactions. This study aimed to probe face processing in autistics with normal IQ utilizing magnetoencephalography to examine event-related fields within the fusiform gyrus during face perception.
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The effects of adrenal insufficiency and its treatment on cognition in an athlete with post-concussion syndrome.
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Clinical Neuropsychology Department, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK.
Post-concussion Syndrome (PCS) describes persistent nonspecific neurological, cognitive and emotional symptoms following concussion. A young male presented to a sports concussion clinic with persistent symptoms post-injury. Neurocognitive testing found unexpected severe memory impairment.
View Article and Find Full Text PDFReduced brain network segregation in alcohol use disorder: Associations with neurocognition.
Addict Biol
December 2024
Center for Studies of Addiction, Department of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
The human brain consists of functionally segregated networks, characterized by strong connections among regions belonging to the same network and weak connections between those of different networks. Alcohol use disorder (AUD) is associated with premature brain aging and neurocognitive impairments. Given the link between decreased brain network segregation and age-related cognitive decline, we hypothesized lower brain segregation in patients with AUD than healthy controls (HCs).
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