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Redefining Aging: A Tale of Hutchinson-Gilford Progeria Syndrome.
J Assoc Physicians India
October 2024
Professor and Unit Head, Department of Internal Medicine, Lokmanya Tilak Municipal General Hospital and Lokmanya Tilak Municipal Medical College, Mumbai, Maharashtra, India.
Article Synopsis
- Hutchinson-Gilford syndrome, commonly known as progeria, is a rare genetic disorder that leads to dwarfism and premature aging, particularly affecting the heart and blood vessels.
- Diagnosis involves recognizing specific clinical signs and imaging results, with confirmation through the identification of mutations in the Lamin A gene.
- The case presented describes a patient who experienced heart failure and brain infarcts, highlighting the uniqueness of the syndrome and the vascular complications associated with it.
A Tale of Two Afflictions: Transverse Myelitis and COVID-19 in a Young Female Patient.
Cureus
May 2024
Internal Medicine, Hackensack Meridian Mountainside Medical Center, Montclair, USA.
Acute transverse myelitis (ATM) is a syndrome of multiple etiologies, with acute or subacute onset in which inflammation of the spinal cord results in neurological deficits, including weakness, sensory loss, and autonomic dysfunction. It is often associated with infectious or autoimmune etiologies but can be considered idiopathic when extensive workup is negative. We present a case of a young African American female who presented with acute onset of bilateral lower extremity weakness, loss of sensation, and autonomic dysfunction.
View Article and Find Full Text PDFA tale of two n-backs: Diverging associations of dorsolateral prefrontal cortex activation with n-back task performance.
bioRxiv
May 2024
Department of Biomedical Engineering, Stony Brook University.
Background: In studying the neural correlates of working memory (WM) ability via functional magnetic resonance imaging (fMRI) in health and disease, it is relatively uncommon for investigators to report associations between brain activation and measures of task performance. Additionally, how the choice of WM task impacts observed activation-performance relationships is poorly understood. We sought to illustrate the impact of WM task on brain-behavior correlations using two large, publicly available datasets.
View Article and Find Full Text PDFPearls & Oy-sters: INO Plus From Downward Herniation-A Cautionary Tale Regarding Neuro-Ophthalmologic Signatures of Brainstem Compression.
Neurology
May 2024
From the Department of Neurology (J.H., C.V., J.V., M.U.F., C.W.I.); Department of Neurosurgery (V.N., E.K.); Department of Neuroradiology (S.W., M.P.), University Hospital Wuerzburg, Germany; and Center for Brain Circuit Therapeutics (M.U.F.), Brigham and Women's Hospital, Harvard Medical School, Boston, MA.
Pupillary assessment is a quintessential part of the clinical examination in neuro-intensive care patients because it provides insight into the integrity of midbrain reflex arcs. Abnormal pupils, particularly anisocoria and later bilateral fixed mydriasis, are classically used to assess expansive intracranial processes because they are frequently considered early indicators of transtentorial midbrain compression due to elevated intracranial pressure. Complex ocular motor deficits mapping to the midbrain are rarely described in the setting of high transtentorial pressure.
View Article and Find Full Text PDFThe importance of the fourth Greek key motif of human γD-crystallin in maintaining lens transparency-the tale told by the tail.
Mol Vis
April 2024
Department of Biotechnology, K.S.Rangasamy College of Technology, Tamil Nadu, India.
Purpose: Congenital cataract affects 1-15 per 10,000 newborns worldwide, and 20,000-40,000 children are born every year with developmental bilateral cataracts. Mutations in the crystallin genes are known to cause congenital cataracts. Crystallins, proteins present in the eye lens, are made up of four Greek key motifs separated into two domains.
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