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Hemorrhagic Schwannoma of the Cauda Equina: Case Report and Review of the Literature.
NMC Case Rep J
July 2021
IRCCS/Institute of Neurological Science of Bologna, Department of Neurologic Surgery, Bellaria Hospital, Bologna, Italy.
Spinal intradural hemorrhage is a rare event; the most common causes of spinal bleeding are traumas, medical therapy with anticoagulants and thrombolytics, vascular malformations, and congenital defects of coagulation. Rarely, spinal cord tumors may cause hemorrhage. Herein, we report the case of a patient with acute and quickly worsening lumbar pain: the neurological examination revealed a flaccid paraplegia caused by an intradural lesion extending on the right side of the spinal cord from T1 to L2 vertebral level.
View Article and Find Full Text PDFClinico-diagnostic features of neuralgic amyotrophy in childhood.
Neurol Sci
July 2020
Paediatric Neurology and Muscular Diseases Unit, "G. Gaslini" Institute, Genoa, Italy.
Neuralgic amyotrophy (NA), even known as Personage-Turner's syndrome (PTS), is a neurologic condition, affecting the lower motor neurons of brachial plexus and/or individual nerves or nerve branches, characterized by pain, muscle weakness/atrophy, and sensory symptoms. NA has an acute/subacute onset, after an infection or vaccination; it is more common in male and is rare in the pediatric population. The etiology remains uncertain, being considered heterogeneous and multifactorial.
View Article and Find Full Text PDFManifestations of Pediatric Extranodal Rosai Dorfman Disease in the head and neck.
Int J Pediatr Otorhinolaryngol
April 2020
Department of Otolaryngology-Head and Neck Surgery, United States; Indiana University School of Medicine, United States.
Objectives: To systematically evaluate the clinico-diagnostic profile and management outcomes of otorhinolaryngologic manifestations of Extranodal Rosai-Dorfman Disease (ENRDD) in the pediatric population.
Methods: The search terms Rosai Dorfman Disease and Sinus Histiocytosis were used to query PubMed, Ovid/Medline, and Scopus databases from inception through September 30, 2018. Studies were systematically reviewed in accordance to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) protocol.
The complex phenotype of spinocerebellar ataxia type 48 in eight unrelated Italian families.
Eur J Neurol
March 2020
Area of Neuroscience, Institute of Neurology, Fondazione Policlinico Universitario A.Gemelli IRCCS, Rome, Italy.
Background And Purpose: Heterozygous mutations in the STUB1 gene have recently been associated with an autosomal dominant form of spinocerebellar ataxia (SCA) associated with cerebellar cognitive-affective syndrome (CCAS), named SCA48.
Methods: Molecular screening was performed in a cohort of 235 unrelated patients with adult-onset, autosomal dominant (17) or sporadic (218) cerebellar ataxia, negative for pathological trinucleotide expansions in the common SCAs, FRDA and FXTAS loci, by using targeted multigene panels or whole-exome sequencing. Bioinformatics analyses, detailed neurological phenotyping and family segregation studies corroborated the pathogenicity of the novel STUB1 mutations.
Dietary Protein Deficit and Deregulated Autophagy: A New Clinico-diagnostic Perspective in Pathogenesis of Early Aging, Skin, and Hair Disorders.
Indian Dermatol Online J
January 2019
Department of Dermatology, Aesthetic Surgery and Intervention Dermatology, AURA Skin Institute, Chandigarh, India.
Background: Diet has an important role to play in the well-being of human body.
Aims: The study intends to establish the "hypothesis of conscious, selective, and self-destruction i.e.
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