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Full-Endoscopic Resection of a Lumbar Intradural Tumor (Schwannoma): Video Case Report and Description of the Surgical Technique.
Neurospine
December 2024
Hospital Privado de Rosario, Rosario, Argentina.
Endoscopic spinal surgery has gained increasing popularity over the past 10 years. Its muscle-preserving nature, reduction in postoperative pain, and lower complication rates have contributed to the growing number of surgeons adopting this technique year after year. This same progression has led to the application of the technique in oncological pathology, primarily for separation surgeries and biopsies of extradural lesions.
View Article and Find Full Text PDFPhosphoribosyl pyrophosphate synthetase 1 () associated retinal degeneration: an international study.
Ophthalmic Genet
January 2025
Department of Ophthalmology, Casey Eye Institute, Oregon Health & Science University, Portland, Oregon, USA.
Introduction: Phosphoribosyl pyrophosphate synthetase 1 () is an X-linked gene critical for nucleotide metabolism. Pathogenic variants cause three overlapping phenotypes: Arts syndrome (severe neurological disease), Charcot-Marie-Tooth type 5 [CMTX5] (peripheral neuropathy), and non-syndromic sensorineural hearing loss (SNHL). Each may be associated with retinal dystrophy.
View Article and Find Full Text PDFCase Report: The unrelenting journey-successful resolution of catecholaminergic polymorphic ventricular tachycardia (CPVT) through right cardiac sympathetic denervation in a teenager after left cardiac sympathetic denervation.
Front Cardiovasc Med
December 2024
Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Pok Fu Lam, Hong Kong SAR, China.
Background: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare inherited arrhythmia disorder characterized by ventricular arrhythmia triggered by adrenergic stimulation.
Case Presentation: A 9-year-old boy presented with convulsions following physical exertion. Bidirectional ventricular tachycardia (VT) during a treadmill test led to the diagnosis of catecholaminergic polymorphic ventricular tachycardia (CPVT).
From spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic SPAST variants.
Eur J Neurol
January 2025
Service de Génétique Médicale, CHU Bordeaux, Bordeaux, France.
Purpose: Heterozygous pathogenic variants in SPAST are known to cause Hereditary Spastic Paraplegia 4 (SPG4), the most common form of HSP, characterized by progressive bilateral lower limbs spasticity with frequent sphincter disorders. However, there are very few descriptions in the literature of patients carrying biallelic variants in SPAST.
Methods: Targeted Sanger sequencing, panel sequencing and exome sequencing were used to identify the genetic causes in 9 patients from 6 unrelated families with symptoms of HSP or infantile neurodegenerative disorder.
Dacryoscintillography in Patients With Symptomatic, but Patent, Lacrimal Drainage Systems.
Ophthalmic Plast Reconstr Surg
December 2024
Adnexal Service, Moorfields Eye Hospital, London, United Kingdom.
Purpose: To relate dacryoscintillographic features to presenting symptoms and signs for watery-eyed patients with patent drainage systems.
Methods: Retrospective case note and imaging review for patients with watering eye(s) and clinical evidence of impaired tear drainage who underwent dacryoscintillography (DSG). Three DSG features were graded, along with 4 symptoms, 7 signs, and the degree of fluid reflux and nasal fluid passage on gentle syringing.
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