Transthyretin Familial Amyloid Polyneuropathy (TTR-FAP) is a rare neurological disease caused by a genetic mutation with a variable presentation and consequent challenging diagnosis, complex follow-up and treatment. At this moment, this condition has no cure and treatment options are under development. One of the disease's implications is a definite and progressive motor impairment that from the early stages compromises walking ability and daily life activities. The detection of this impairment is key for the disease onset diagnosis. With the goal of improving diagnosis of the symptoms and patients' quality of life, the authors have assessed the gait characteristics of subjects suffering from this condition. This contribution shows the results of a preliminary study, using a non-intrusive, markerless vision-based gait analysis tool. To the best of our knowledge, the reported results constitute the first gait analysis data of TTR-FAP mutation carriers.
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http://dx.doi.org/10.1109/EMBC.2017.8037087 | DOI Listing |
Nat Commun
December 2024
Department of Chemical and Biomolecular Engineering, Rice University, Houston, TX, USA.
Programmable and modular systems capable of orthogonal genomic and transcriptomic perturbations are crucial for biological research and treating human genetic diseases. Here, we present the minimal versatile genetic perturbation technology (mvGPT), a flexible toolkit designed for simultaneous and orthogonal gene editing, activation, and repression in human cells. The mvGPT combines an engineered compact prime editor (PE), a fusion activator MS2-p65-HSF1 (MPH), and a drive-and-process multiplex array that produces RNAs tailored to different types of genetic perturbation.
View Article and Find Full Text PDFFront Cardiovasc Med
December 2024
Division of Hematology-Oncology, Department of Medicine, Tufts Medical Center, Boston, MA, United States.
Background: A 63-year-old Black woman presented with progressive exertional dyspnea and chronic lower back pain. The course and findings in her case are instructive.
Case Report: Family history was notable for cardiac deaths.
Orphanet J Rare Dis
December 2024
Department of Physical Medicine and Rehabilitation, Facultad de Medicina, Universidad Nacional de Colombia, Carrera 30 No.45-03. Edificio 471, Piso 5to, Of. 513-A, Bogotá, Colombia.
Background: Hereditary transthyretin amyloidosis (hATTR) is a rare autosomal dominant disease with high clinical variability, influenced by both genotype and the geographic origins of carriers. There is a limited understanding of the Val142Ile and Ser43Asn recognised mutations in Ecuador and Colombia. Therefore, the objective of this study is to describe the neurological and functional characteristics of patients with hATTR associated with the Val142Ile and Ser43Asn mutations, as well as to identify possible differentiating factors between the two mutations.
View Article and Find Full Text PDFRev Med Liege
December 2024
Service de Médicine Interne, HUS, Strasbourg, France.
Introduction: Transthyretin cardiac amyloidosis is a pathology increasingly encountered in all hospital departments, including internal medicine. The aim of our study is to describe the characteristics and care pathway of patients with transthyretin cardiac amyloidosis in internal medicine and to show that the number of patients diagnosed is increasing.
Methods: Descriptive, retrospective, non-interventional, single-center study at Strasbourg University Hospitals (HUS).
Zhonghua Xin Xue Guan Bing Za Zhi
December 2024
Department of Cardiology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing100730, China.
To explore the clinical characteristics and prognostic value in hereditary transthyretin amyloidosis cardiomyopathy (hATTR-CM) patients based on cluster analysis, and to explore the risk factors for cardiovascular composite events. This retrospective cohort study included hATTR-CM patients who were admitted to Peking Union Medical College Hospital from January 2000 to January 2024. These patients were divided into two clusters using cluster analysis, based on genetic information, demographic information and clinical information.
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