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GM2 gangliosidosis is lysosomal storage disorder caused by deficiency of the heterodimeric enzyme β-hexosaminidase A. Tay-Sachs disease is caused by variants in encoding the α-subunit and Sandhoff disease is caused by variants in encoding the β-subunit. Due to shared clinical and biochemical findings, the two have been considered indistinguishable.
View Article and Find Full Text PDFAssociation between GRIN2B polymorphism and Parkinson's disease risk, age at onset, and progression in Southern China.
Front Neurol
December 2024
Department of Neurology, Shanghai East Hospital, School of Medicine, Tongji University, Shanghai, China.
Background And Objectives: The role of N-methyl-D-aspartate receptor 2B (GRIN2B) single nucleotide polymorphisms (SNPs) in influencing the risk and progression of Parkinson's disease (PD) is still unclear. This study aimed to assess the impact of GRIN2B genotype status on PD susceptibility and symptom progression.
Methods: We enrolled 165 individuals with sporadic PD and 154 healthy controls, all of whom had comprehensive clinical data available at the start and during follow-up.
Late-onset axial spondyloarthritis: data from Reuma-check cohort.
Clin Rheumatol
December 2024
Leiden University Medical Center, Leiden and Zuyderland Medical Center, Heerlen, The Netherlands.
Article Synopsis
- The study aimed to estimate the prevalence of late-onset axial spondyloarthritis (lo-axSpA) and identify its associated clinical features.
- A total of 126 patients were analyzed, revealing that 28% were classified as lo-axSpA, with notable differences like a higher prevalence in females and more cases with skin psoriasis.
- The findings suggest that lo-axSpA occurs more frequently than previously thought and is linked to specific characteristics, such as being more common in women and associated with shorter diagnosis delays.
Carotid-cavernous fistula due to contralateral orbital trauma.
Oman J Ophthalmol
October 2024
Department of Imaging Sciences and Interventional Radiology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Thiruvananthapuram, Kerala, India.
Direct carotid cavernous fistula is an abnormal arterio-venous connection from the carotid artery to the cavernous sinus (CS), resulting in high-pressure arterial blood entering the low-pressure venous CS. Most often, it occurs posttrauma and presents with ipsilateral orbital signs. In this report, we describe the case of a 54-year-old man, who presented with a late-onset right-sided red eye and diplopia following contralateral (left sided) orbital trauma (road traffic accident 7 months ago).
View Article and Find Full Text PDF[Heavy eye syndrome: clinical manifestations, diagnosis and treatment].
Vestn Oftalmol
November 2024
Krasnov Research Institute of Eye Diseases, Moscow, Russia.
Article Synopsis
- Heavy eye syndrome (HES) is a unique type of strabismus caused by a significant elongation of the eye's axial length, leading to misalignment and reduced eye movement, often seen in patients with high myopia.
- Identification of HES relies on multislice computed tomography (MSCT), which reveals a key sign of the condition: the dislocation of the posterior pole from the muscle cone.
- The preferred surgical option for HES involves techniques that reposition the superior and lateral rectus muscles, as traditional surgeries are less effective and may complicate future treatment.
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