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Clinical Manifestations.
Alzheimers Dement
December 2024
Dementia Research Centre, UCL Queen Square Institute of Neurology, London, United Kingdom.
Background: Accelerated long-term forgetting (ALF) is a form of episodic memory impairment where information is retained normally over 30-60 minutes but lost at an accelerated rate over subsequent days to weeks, and is a very early - perhaps the earliest - cognitive change in both autosomal dominant and sporadic Alzheimer's disease (AD). However, the neuroanatomical changes underlying ALF in AD have remained elusive. We explored associations between ALF and focal cortical thickness in presymptomatic autosomal dominant AD (ADAD).
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.
Foundational Image Analyses for Ultrasonographic Screening of Abdominal Aortic Aneurysm.
Ann Vasc Dis
December 2024
Department of Anesthesiology, Kochi Medical School, Nankoku, Kochi, Japan.
With improved surgical outcomes for non-ruptured abdominal aortic aneurysm (AAA), the primary objective has shifted toward the detection of asymptomatic AAA. Since ultrasonographic visualization from the anterior abdominal wall is often obstructed by intestinal gas, utilizing additional bilateral posterior approaches via the retroperitoneal tissue may be beneficial. This study investigates the feasibility of assessment using three approaches through computed tomography (CT) data analyses.
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