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From amaurotic idiocy to biochemically defined lipid storage diseases: the first identification of GM1-Gangliosidosis.
Free Neuropathol
January 2023
LIMES Institute, Membrane Biology & Biochemistry Unit, Bonn University, Bonn, Germany.
On February 23 1936, a boy-child ("Kn") died in an asylum near Munich after years of severe congenital disease, which had profoundly impaired his development leading to inability to walk, talk and see as well as to severe epilepsy. While a diagnosis of "Little's disease" was made during life, his postmortem brain investigation at Munich neuropathology ("Deutsche Forschungsanstalt für Psychiatrie") revealed the diagnosis of "amaurotic idiocy" (AI). AI, as exemplified by Tay-Sachs-Disease (TSD), back then was not yet understood as a specific inborn error of metabolism encompassing several disease entities.
View Article and Find Full Text PDFAnton de Haen (1704-1776) and his extraordinary "portentosum infundibulum" case: the futile skull cauterization of a blind patient with a craniopharyngioma.
J Neurosurg
November 2023
4Pathologisch-anatomische Sammlung im Narrenturm-NHM, Vienna, Austria.
Anton de Haen (1704-1776) became one of the most influential physicians in the Habsburg Empire as a reformer of clinical instruction at Vienna Citizen's Hospital (Bürgerspital), where he introduced the bedside teaching method he had learned from Herman Boerhaave in Leyden, Holland. He also promoted the meticulous recording of clinical observations and the use of postmortem studies to identify the cause of death in hospitalized patients. Among the numerous clinicopathological reports compiled in his monumental 18-volume work Rationis Medendi in Nosocomio Practico, published in 1761, was the first documented patient with amenorrhea caused by a pituitary tumor, appearing in the 6th volume.
View Article and Find Full Text PDFAim: To report the clinical results of chelation of band keratopathy in long-term follow-up.
Material And Methods: The long-term results of 5 patients (5 eyes) with symptomatic band keratopathy with a follow-up period of at least 6 months, in whom 2% EDTA was chelated on the affected eye in the study period from April 2018 to March 2021, were retrospectively evaluated. The follow-up period was 9-37 months.
Correlation between relative afferent pupillary defect and visual field defects on Humphrey automated perimetry: A cross-sectional clinical trial.
PLoS One
May 2022
Department of Ophthalmology, Faculty of Medicine, Prince of Songkla University, Hatyai, Songkhla, Thailand.
Purpose: To evaluate the correlations between relative afferent pupillary defect (RAPD) magnitude, assessed using the clinical plus scale and neutral density filters, and visual field parameters in patients with unilateral or asymmetrical bilateral optic neuropathy or retinopathy.
Methods: Fifty-two patients with RAPD, graded by the swinging flashlight test and neutral density filters, were analyzed in this cross-sectional trial. The RAPD clinical plus scale was divided into grade 1+, initial weak constriction; grade 2+, initial stall then dilatation; grade 3+, immediate dilatation; and grade 4+, fixed amaurotic pupil.
Leber's Congenital Amaurosis: Current Concepts of Genotype-Phenotype Correlations.
Genes (Basel)
August 2021
Department of Ophthalmology, National Taiwan University Hospital, Taipei 100, Taiwan.
Leber's congenital amaurosis (LCA), one of the most severe inherited retinal dystrophies, is typically associated with extremely early onset of visual loss, nystagmus, and amaurotic pupils, and is responsible for 20% of childhood blindness. With advances in molecular diagnostic technology, the knowledge about the genetic background of LCA has expanded widely, while disease-causing variants have been identified in 38 genes. Different pathogenetic mechanisms have been found among these varieties of genetic mutations, all of which result in the dysfunction or absence of their encoded proteins participating in the visual cycle.
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