Category: 6. Health

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  • GRIN2B-related neurodevelopmental disorders: genotype-phenotype correlations and therapeutic implications | Orphanet Journal of Rare Diseases

    GRIN2B-related neurodevelopmental disorders: genotype-phenotype correlations and therapeutic implications | Orphanet Journal of Rare Diseases

    We identified 98 individuals with pathogenic or likely pathogenic GRIN2B variants from 23 publications [11, 16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37]. Additionally, we reported the clinical data for seven novel cases…

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  • New mechanism behind potentially fatal type of epilepsy identified

    New mechanism behind potentially fatal type of epilepsy identified

    A team led by the UAB Institut de Neurociències (INc-UAB) has for the first time identified the mechanism behind a potentially fatal type of epilepsy, a symptom of mitochondrial diseases. The discovery, based on mouse models,…

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  • Full-Field Electroretinographic Evaluation of a Case With Benign Lobular Inner Nuclear Layer Proliferations of the Retina

    Full-Field Electroretinographic Evaluation of a Case With Benign Lobular Inner Nuclear Layer Proliferations of the Retina

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  • Inserting a venoarterial extracorporeal membrane oxygenation drainage cannula into the inferior vena cava through the internal jugular vein in a patient with an inferior vena cava filter | International Journal of Emergency Medicine

    Inserting a venoarterial extracorporeal membrane oxygenation drainage cannula into the inferior vena cava through the internal jugular vein in a patient with an inferior vena cava filter | International Journal of Emergency Medicine

    An 18-year-old male patient, a Moroccan international student in China, presented to the emergency department of Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, with a chief complaint of persistent upper…

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  • When Neurology Overlaps: Herpes Simplex Virus Encephalitis in a Patient with Progressive Multiple Sclerosis

    When Neurology Overlaps: Herpes Simplex Virus Encephalitis in a Patient with Progressive Multiple Sclerosis

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  • How AI Solved a 25-Year Crohn’s Disease Mystery

    How AI Solved a 25-Year Crohn’s Disease Mystery

    The researchers then confirmed the importance of the interaction between NOD2 and girdin by comparing mouse models of Crohn’s disease lacking the girdin protein to those with girdin intact. They found that mice without girdin…

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  • Fosphenytoin may be effective in shortening the half-life of lamotrigine in case of overdose: a case report | Journal of Medical Case Reports

    Fosphenytoin may be effective in shortening the half-life of lamotrigine in case of overdose: a case report | Journal of Medical Case Reports

    The usual therapeutic dose of fosphenytoin, a prodrug of phenytoin, was administered to a patient with lamotrigine overdose who experienced seizures that did not respond to treatment with sodium bicarbonate and activated carbon. The…

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