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http://dx.doi.org/10.1007/s10461-023-04033-z | DOI Listing |
Orphanet J Rare Dis
December 2024
Department of Internal Medicine D, and Interdisciplinary Fabry Center (IFAZ), University Hospital Muenster, Muenster, Germany.
Background: The aim of our multicenter study was to investigate the implementation of the European Fabry guidelines on therapeutic recommendations in female patients with Fabry disease (FD) and to analyze the impact of enzyme replacement therapy (ERT) in treated and untreated females.
Results: Data from 3 consecutive visits of 159 female FD patients from 6 Fabry centers were retrospectively analyzed. According to their treatment, patients were separated in 3 groups (untreated, n = 71; newly ERT-treated, n = 47; long-term ERT-treated, n = 41).
Sci Rep
December 2024
School of Human Sciences, University of Western Australia, Crawley, WA, 6009, Australia.
Hearing loss (HL) in mid-life has been suggested as a risk factor for cognitive decline. It is unclear whether this relationship is due to deprivation of auditory input alone, degenerative processes, or a combination. Animal models are useful to investigate underlying neural mechanisms as human studies can be confounded by various factors.
View Article and Find Full Text PDFSci Rep
December 2024
Department of Ophthalmology, Jinshan Hospital of Fudan University, 1508 Longhang Road, Jinshan District, Shanghai, China.
To observe the structural changes of retina and choroid in patients with different degrees of myopia. We recruited 219 subjects with different degrees of myopia for best corrected visual acuity, computer refraction, intraocular pressure, axial length (AL), optical coherence tomography (OCT) imaging, and other examinations. Central macular retinal thickness (CRT), subfoveal choroidal thickness (SFCT), nasal retinal thickness (NRT), temporal retinal thickness (TRT), nasal choroidal thickness (NCT) and temporal choroidal thickness (TCT) were measured by optical coherence tomography.
View Article and Find Full Text PDFJ Craniofac Surg
October 2024
Department of Maxillofacial Surgery, Hospital del Salvador, Santiago, Chile.
Condylar hyperplasia (CH) is a complex, usually unilateral pathology affecting the jaw, leading to facial asymmetry and malocclusion. Its etiology is unclear, with potential links to endocrine disorders, trauma, and genetic factors. Unilateral condylar hyperplasia (UCH) typically presents in young patients but can occur at any age.
View Article and Find Full Text PDFOphthalmic Plast Reconstr Surg
December 2024
Department of Ophthalmology, School of Medicine of Ribeirão Preto, University of São Paulo.
Cherubism is a rare fibro-osseous disease characterized by the progressive expansion of the mandible and maxilla during childhood. Orbital involvement occurs in a subset of patients and is clinically manifested as upward displacement of the affected eye. The bony changes tend to spontaneously diminish or even regress after puberty.
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