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Endoscopic endonasal dacryocystectomy.
Am J Ophthalmol Case Rep
March 2025
Govindram Seksaria Institute of Dacryology, L.V. Prasad Eye Institute, Hyderabad, India.
Purpose: To report an exceptionally rare instance of Endoscopic endonasal dacryocystectomy.
Observations: Dacryocystectomy (DCT), a procedure of surgical extirpation of the lacrimal sac is normally approached by an external route. However, an endoscopic endonasal approach DCT is rare and usually reserved in cases where intellectual disabilities of a patient become a restrictive factor in maintenance of a healthy external wound.
Friedreich ataxia: what can we learn from non-GAA repeat mutations?
Neurodegener Dis Manag
January 2025
Perelman School of Medicine of the University of Pennsylvania, Philadelphia, PA, USA.
Friedreich ataxia (FRDA) is a slowly progressive neurological disease resulting from decreased levels of the protein frataxin, a small mitochondrial protein that facilitates the synthesis of iron-sulfur clusters in the mitochondrion. It is caused by GAA (guanine-adenine-adenine) repeat expansions in the gene in 96% of patients, with 4% of patients carrying other mutations (missense, nonsense, deletion) in the gene. Compound heterozygote patients with one expanded GAA allele and a non-GAA repeat mutation can have subtle differences in phenotype from typical FRDA, including, in patients with selected missense mutations, both more severe features and less severe features in the same patient.
View Article and Find Full Text PDFNeuronal intranuclear inclusion disease with subclinical peripheral neuropathy: A case report.
Medicine (Baltimore)
November 2024
Department of Neurology, The People's Hospital of Suzhou New District, Suzhou, Jiangsu, China.
Rationale: Neuronal intranuclear inclusion disease (NIID) is a slowly progressing neurodegenerative disease with various manifestations and high heterogeneity. Clinical characteristics, imaging, skin biopsy, and genetic testing are necessary for its diagnosis. Electromyography may also be a useful tool for diagnosing NIID.
View Article and Find Full Text PDFClinical criteria for limbic-predominant age-related TDP-43 encephalopathy.
Alzheimers Dement
January 2025
Rush University Medical Center, Chicago, Illinois, USA.
Limbic predominant age-related TDP-43 encephalopathy neuropathologic change (LATE-NC) is highly prevalent in late life and a common co-pathology with Alzheimer's disease neuropathologic change (ADNC). LATE-NC is a slowly progressive, amnestic clinical syndrome. Alternatively, when present with ADNC, LATE-NC is associated with a more rapid course.
View Article and Find Full Text PDF-Related Muscular Dystrophies, LGMD, and TMD, in an Estonian Family Caused by the Finnish Founder Variant.
Neurol Genet
December 2024
From the The Institute of Clinical Medicine (K.Õ., T.R., E.Õ.-S., L.M., S. Pajusalu), Faculty of Medicine, University of Tartu; Genetics and Personalized Medicine Clinic (K.Õ., T.R., L.M., Sander Pajusalu); Children's Clinic (E.O.-S.); Pathology Department (S. Puusepp), Tartu University Hospital, Estonia; Folkhalsan Research Center (M.S., B.U.), Helsinki; and Tampere Neuromuscular Center (B.U.), Tampere, Finland.
Background And Objectives: Tibial muscular dystrophy (TMD) is an autosomal dominant, slowly progressive late-onset distal myopathy. TMD was first described in 1991 by Udd et al. in Finnish patients, who were later found to harbor a heterozygous unique 11-bp insertion/deletion in the last exon of the gene-the Finnish founder variant (FINmaj).
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