Results 31 to 40 of about 12,722 (201)

Proteomic profiling of Elp1‐deficient trigeminal ganglia reveals disruption of neurotrophic and metabolic pathways in a familial dysautonomia mouse model

Developmental Dynamics, EarlyView.
Abstract Background Elp1, a subunit of the Elongator complex, is essential for tRNA modification and neuronal development. Mutations in ELP1 underlie familial dysautonomia (FD), a disorder marked by sensory and autonomic neuropathy. While loss of Elp1 disrupts trigeminal ganglion formation and survival, the downstream molecular consequences remain ...
Carrie E. Leonard, Lauren Clarissa Tang, Beatrix Ueberheide, Lisa A. Taneyhill   +3 more
wiley   +1 more source

NMDAR‐antibody encephalitis: Seizure semiology and EEG findings

Epileptic Disorders, EarlyView.
Abstract Background N‐methyl‐D‐aspartate receptor antibody encephalitis (NMDAR‐Ab‐E) is an autoantibody‐mediated disorder, characterized by acute development of neuropsychiatric symptoms, seizures, movement disorders, and autonomic instability. Objectives To describe acute seizure semiology and electroencephalogram (EEG) findings in patients with a ...
Maria Emilia C. Andraus, Bernard Liem, Sidra Aurangzeb, Mkael Symmonds, Adam E. Handel, Sarosh R. Irani, Arjune Sen   +6 more
wiley   +1 more source

Paroxysmal hyperthermia, dysautonomia and rhabdomyolysis in a patient with Lesch–Nyhan syndrome

JIMD Reports, 2021
Lesch–Nyhan syndrome is an x‐linked genetic disorder of purine metabolism that results in the overproduction of uric acid and neurologic deficits manifesting as intellectual disability, dystonia, other movement disorders and self‐mutilation.
Mandeep Rana, Karen Cuttin, Gerard T. Berry, Alcy Torres   +3 more
doaj   +1 more source

Myalgic Encephalomyelitis/Chronic Fatigue Syndrome: A Neurological Entity?

Medicina, 2021
Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) is a disorder of unknown physiopathology with multisystemic repercussions, framed in ICD-11 under the heading of neurology (8E49).
Iñigo Murga Gandasegui, Larraitz Aranburu Laka, Pascual-Ángel Gargiulo, Juan-Carlos Gómez-Esteban, José-Vicente Lafuente Sánchez   +4 more
doaj   +1 more source

Successful treatment of vertically acquired Hepatitis C in a child using direct‐acting antiviral therapy administered via gastrojejunal tube: A case report

JPGN Reports, EarlyView.
Abstract Hepatitis C virus (HCV) remains a significant global health burden, with vertical transmission being the primary route of infection in children. Direct‐acting antivirals (DAAs) have transformed HCV treatment in pediatrics, but limited data exist on their administration in medically complex children who are dependent on enteral tubes. We report
Connie Chen, Leah Gibson, James Squires
wiley   +1 more source

Post-COVID-19 Syndrome and Related Dysautonomia: Reduced Quality of Life, Increased Anxiety and Manifestation of Depressive Symptoms: Evidence from Greece

Acta Medica Lituanica, 2023
Background: Post-COVID-19 syndrome affects a significant number of SARS-CoV-2 infected individuals, even in asymptomatic cases causing several neurological and neuropsychiatric symptoms and signs.
Petros Galanis, Aglaia Katsiroumpa, Irene Vraka, Katerina Kosiara, Olga Siskou, Olympia Konstantakopoulou, Theodoros Katsoulas, Parisis Gallos, Daphne Kaitelidou   +8 more
doaj   +1 more source

Hypotensive Episodes Precede Cognitive Fluctuations in Parkinson's Disease Dementia

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Cognitive fluctuations (CFs) are a disabling feature in Parkinson's disease dementia (PDD) and contribute to caregiver burden. The relationship between CFs and neurogenic orthostatic hypotension (nOH), a common autonomic complication in PDD, has not been adequately examined.
Jorge Patino, Kevin Duque, Jesus Abanto, Aaron Bloemer, Heba Deraz, Alberto J. Espay, Abhimanyu Mahajan   +6 more
wiley   +1 more source

Sensorimotor control in the congenital absence of functional muscle spindles

Experimental Physiology
Hereditary sensory and autonomic neuropathy type III (HSAN III), also known as familial dysautonomia or Riley–Day syndrome, results from an autosomal recessive genetic mutation that causes a selective loss of specific sensory neurones, leading to greatly
Vaughan G. Macefield, Lyndon J. Smith, Lucy Norcliffe‐Kaufmann, Jose‐Alberto Palma, Horacio Kaufmann   +4 more
doaj   +1 more source

Immune Checkpoint Inhibitor‐Related Dysautonomia in Merkel Cell Carcinoma: A Case Report

Cancer Reports
Background Immune checkpoint inhibitors (ICIs) are monoclonal antibodies that block inhibitory pathways that cancer cells exploit to suppress T‐cell activation.
Nidhi Kuchimanchi, Sai Gajula, Elizabeth M. Gaughan, Russell G. Witt   +3 more
doaj   +1 more source

Clinical Heterogeneity in ME/CFS. A Way to Understand Long-COVID19 Fatigue

Frontiers in Psychiatry, 2021
The aim of present paper is to identify clinical phenotypes in a cohort of patients affected of Myalgic Encephalomyelitis/Chronic Fatigue Syndrome. Ninety-one patients and 22 healthy controls were studied with the following questionnaires, in addition to
Iñigo Murga, Larraitz Aranburu, Pascual A. Gargiulo, Juan Carlos Gómez Esteban, Juan Carlos Gómez Esteban, José-Vicente Lafuente, José-Vicente Lafuente   +6 more
doaj   +1 more source