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The clinical presentation and genetic diagnosis of Tangier disease in the pediatric age group.
J Pediatr Endocrinol Metab
January 2025
Division of Pediatric Neurology, Department of Pediatrics and Child Health, Erciyes University, Faculty of Medicine, Kayseri, Türkiye.
Objectives: Tangier disease (TD) is a rare autosomal recessive condition characterized by high-density lipoprotein (HDL) deficiency; involving symptoms of polyneuropathy, hyperplastic orange-yellow tonsils, vision disorder, and sudden cardiac death. The major clinical symptoms of TD may not all be co-present. This study evaluates patients diagnosed with TD in childhood to improve the possibility of early diagnosis of asymptomatic cases by reporting our patients' clinical characteristics in order to minimize delayed diagnosis and emphasize the importance of TD, easily detected by HDL measurement.
View Article and Find Full Text PDFAnkle-foot orthoses for improving walking in adults with calf muscle weakness due to neuromuscular disorders.
Cochrane Database Syst Rev
January 2025
Department of Rehabilitation Medicine, Amsterdam UMC, location University of Amsterdam, Meibergdreef 9, Amsterdam, Netherlands.
Background: Calf muscle weakness is a common symptom in slowly progressive neuromuscular disorders that lead to walking problems like instability and increased walking effort. The mainstay of treatment to improve walking in this population is the provision of ankle-foot-orthoses (AFOs). Since we are not aware of an up-to-date and complete overview of the effects of AFOs used for calf muscle weakness in slowly progressive neuromuscular disorders, we reviewed the evidence for the effectiveness of AFOs to improve walking in this patient group, in order to support clinical decision-making.
View Article and Find Full Text PDFPredictive validity of obstacle-crossing test variations in identifying fallers after inpatient rehabilitation for stroke.
Top Stroke Rehabil
January 2025
Department of Health Sciences, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Background: The ability to step over an obstacle is often evaluated as part of fall-risk and balance assessments. Although different obstacle-crossing tests exist, their comparative predictive validity in stroke is unknown.
Objectives: To examine the predictive validity of different obstacle depths and different obstacle-crossing tests, including a novel, custom-height test and an existing "one-size-fits-all" obstacle test, for predicting post-stroke fallers.
White Matter Fiber Bundle Alterations Correlate with Gait and Cognitive Impairments in Parkinson's Disease based on HARDI Data.
Curr Med Imaging
January 2025
Department of Radiology, Beijing Friendship Hospital, Capital Medical University, No. 95, Yong An Road, Xicheng District, Beijing 100050, China.
Background: The neuroanatomical basis of white matter fiber tracts in gait impairments in individuals suffering from Parkinson's Disease (PD) is unclear.
Methods: Twenty-four individuals living with PD and 29 Healthy Controls (HCs) were included. For each participant, two-shell High Angular Resolution Diffusion Imaging (HARDI) and high-resolution 3D structural images were acquired using the 3T MRI.
Non-dominant handgrip strength is associated with higher cardiorespiratory endurance and elevated NT-proBNP concentrations in ambulatory male adult outpatients with stable HFrEF.
Narra J
December 2024
Department of Cardiology and Vascular Medicine, Harapan Kita Hospital, Jakarta, Indonesia.
Understanding the significance of handgrip strength is essential for identifying frailty in heart failure patients. The aim of this study was to identify the association between handgrip strength and cardiorespiratory endurance while highlighting the importance of the musculoskeletal system in cardiac rehabilitation for patients with heart failure. An observational cross-sectional study was conducted at Harapan Kita Hospital, Jakarta, Indonesia, from April 2022 to April 2023, among patients with heart failure with reduced ejection fraction (HFrEF) attributed to cardiomyopathy or coronary artery disease.
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