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A Case of Freeman-Sheldon Syndrome With Glaucoma Successfully Treated by Trabeculotomy Using the Kahook Dual Blade.
Cureus
December 2024
Department of Ophthalmology and Visual Science, Nagoya City University Graduate School of Medical Sciences, Nagoya, JPN.
This case study details a 41-year-old male patient with Freeman-Sheldon syndrome (FSS) who presented with ocular hypertension. The intraocular pressure (IOP) in his right eye progressively increased over time, leading to visual field loss, culminating in a diagnosis of juvenile-onset open-angle glaucoma (JOAG). Despite conventional medical therapies, adequate IOP control was not achieved, necessitating his referral to Nagoya City University Hospital.
View Article and Find Full Text PDFHirayama's Disease: About a Clinical Observation.
Cureus
December 2024
Neurology, Hassan II University Hospital, Fez, MAR.
Hirayama disease, also known as non-progressive juvenile spinal muscular atrophy of the upper limbs, brachial monomelic amyotrophy, or benign focal atrophy, affects the C7 D1 myotomes; an electromyogram (EMG) shows neurogenic damage in the C7-C8-T1 territories. It causes weakness and amyotrophy of the distal upper limb. Although it usually occurs on one side only, bilateral symmetric cases of Hirayama disease have occasionally been described.
View Article and Find Full Text PDFCase report: Duplication of the gene is a novel cause of nesidioblastosis: evidence from a case with Silver-Russell syndrome-like phenotype related to chromosome 7.
Front Endocrinol (Lausanne)
December 2024
Medical Research Institute KITANO HOSPITAL, PIIF Tazuke-kofukai, Osaka, Japan.
Silver-Russell syndrome (SRS) is a syndrome characterized by prenatal and postnatal growth retardation, facial features, and body asymmetry. SRS is often complicated with hypoglycemia, whose etiology is unclear. We describe the clinical course of 25-year-old man with hypoglycemia.
View Article and Find Full Text PDFTrabecular Bone Ontogeny of the Human Distal Tibia.
Am J Biol Anthropol
December 2024
Centre for Anatomy and Human Identification, School of Science and Engineering, University of Dundee, Dundee, Scotland.
Article Synopsis
- - The study investigates how trabecular bone in the distal tibia adapts to biomechanical changes during development, emphasizing its significance in weight-bearing activities.
- - Analysis of tibiae from 28 intrauterine weeks to 8 years old shows that fetal and early postnatal bones have immature structure and high bone volume, which reorganizes during the first year of life.
- - Findings suggest that the changes in trabecular bone are influenced by the shift in biomechanical forces as infants start walking, leading to increased structural heterogeneity after the first year.
Ontogenetic instars of Basilobelba werneri Mahunka, 1982 (Acari, Oribatida, Basilobelbidae).
Zootaxa
July 2024
40 Barnes Crescent; Ottawa; Ontario; K2H7C2; Canada.
Basilobelba werneri (Oribatida, Basilobelbidae) was collected from an alpine cloud forest in Guatemala. This is the first representative of the family Basilobelbidae in the Guatemalan fauna. A supplementary description of adult B.
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