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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.
Whole-body angular momentum during stair ascent and descent in individuals with and without knee osteoarthritis.
Sci Rep
December 2024
School of Health Sciences, Western Sydney University, Campbelltown, NSW, Australia.
Given the higher fall risk and the fatal sequelae of falls on stairs, it is worthwhile to investigate the mechanism of dynamic balance control in individuals with knee osteoarthritis during stair negotiation. Whole-body angular momentum ([Formula: see text]) is widely used as a surrogate to reflect dynamic balance and failure to constrain [Formula: see text] may increase the fall risk. This study aimed to compare the range of [Formula: see text] between people with and without knee osteoarthritis during stair ascent and descent.
View Article and Find Full Text PDFDevelopment of an accurate breast cancer detection classifier based on platelet RNA.
Sci Rep
December 2024
School of Medicine, The First Affiliated Hospital of Xiamen University, Xiamen University, Xiamen, Fujian, China.
Platelets possess cancer-induced reprogramming properties, thereby contributing to RNA profile alterations and further cancer progression, while the former is considered a promising biosource for cancer detection. Hence, tumor-educated platelets (TEP) are considered a prospective novel method for early breast cancer (BC) screening. Our study integrated the data from 276 patients with untreated BC, 95 with benign disease controls, 214 healthy controls, and 2 who underwent mastectomy in Chinese and European cohorts to develop a 10-biomarker diagnostic model.
View Article and Find Full Text PDFThe clinical manifestations of SARS-CoV-2 infection may range from asymptomatic or minor conditions to severe and life-threatening outcomes. The respiratory system is a principal target of the virus and in the majority of cases of severe disease, an acute form of pneumonia develops. Despite concerted global efforts to elucidate the pathogenic mechanisms of COVID-19, the progression of the infection leading to pulmonary damage remains poorly understood.
View Article and Find Full Text PDFP300 Latency with Memory Performance: A Promising Biomarker for Preclinical Stages of Alzheimer's Disease.
Biosensors (Basel)
December 2024
Biomedical Science and Engineering Department, Gwangju Institute of Science and Technology, Gwangju 61005, Republic of Korea.
Detecting and tracking the preclinical stages of Alzheimer's disease (AD) is now of particular interest due to the aging of the world's population. AD is the most common cause of dementia, affecting the daily lives of those afflicted. Approaches in development can accelerate the evaluation of the preclinical stages of AD and facilitate early treatment and the prevention of symptom progression.
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