Review
Neurosciences
Saumya Maheshwari, Gabriela Vilema-Enriquez, Richard Wade-Martins
Summary: Friedreich ataxia is a rare genetic disorder caused by a repeated expansion of GAA trinucleotide sequences. The use of induced pluripotent stem cells (iPSCs) has provided a valuable platform for studying the disease. iPSC-derived models enable the study of disease mechanisms and the testing of novel therapies for Friedreich ataxia.
TRANSLATIONAL NEURODEGENERATION
(2023)
Article
Engineering, Biomedical
Benjamin G. Schultz, Zaher Joukhadar, Usha Nattala, Maria del Mar Quiroga, Gustavo Noffs, Sandra Rojas, Hannah Reece, Anneke van der Walt, Adam P. Vogel
Summary: This study examines the use of acoustic features to distinguish pathological speech caused by neurodegenerative diseases. The results demonstrate that acoustic features can accurately differentiate healthy speech from speech associated with diseases such as multiple sclerosis and Friedreich ataxia. The findings highlight the importance of considering speech outcomes when evaluating neurodegenerative diseases and suggest expanding the scope of research to other neurological disorders and affective disorders.
IEEE TRANSACTIONS ON NEURAL SYSTEMS AND REHABILITATION ENGINEERING
(2023)
Article
Medicine, General & Internal
Dmitry Antukh, Dmitry Shchekochikhin, Teona Rosina, Elena Mershina, Olga Larina, Sergey Pasha, Elena Zaklyazminskaya, Valentin Sinitsyn, Sergey Moiseev
Summary: The common diagnostic approach for suspected cardiac amyloidosis includes cardiac magnetic resonance imaging and scintigraphy. However, false-positive results may occur, as in the case of a patient with Danon disease.
CLINICAL CASE REPORTS
(2021)
Review
Neurosciences
Xiaonan Zhao, Daman Kumari, Carson J. Miller, Geum-Yi Kim, Bruce Hayward, Antonia G. Vitalo, Ricardo Mouro Pinto, Karen Usdin
Summary: Huntington's disease is caused by expanded DNA repeats, specifically a CAG trinucleotide located in the huntingtin gene, resulting in neuronal cell death. Somatic CAG expansion in the brain may contribute to earlier disease onset and increased severity in individuals. Additional genetic factors and pathways may modify somatic expansion, providing potential druggable targets for diseases like HD.
JOURNAL OF HUNTINGTONS DISEASE
(2021)
Article
Cardiac & Cardiovascular Systems
Kashvi Gupta, Ioannis Mastoris, Andrew J. Sauer
HEART FAILURE CLINICS
(2024)
Review
Cardiac & Cardiovascular Systems
Alexander L. Wallner, Salvatore Savona, Rami Kahwash
HEART FAILURE CLINICS
(2024)
Article
Cardiac & Cardiovascular Systems
Muhammad Shahzeb Khan, Anousheh Awais Paracha, Jan Biegus, Rafael de la Espriella, Julio Nunez, Carlos G. Santos-Gallego, Dmitry Yaranov, Marat Fudim
Summary: The increase of preload in heart failure can lead to excessive intracardiac pressures. The reduction of preload can be achieved through pharmacological and nonpharmacological interventions, with nonpharmacological interventions aiming to reduce blood inflow or increase splanchnic vascular blood pooling.
HEART FAILURE CLINICS
(2024)
Article
Cardiac & Cardiovascular Systems
Parin J. Patel, Asim S. Ahmed
HEART FAILURE CLINICS
(2024)
Article
Cardiac & Cardiovascular Systems
Husam M. Salah, Claudia Baratto, Dmitry M. Yaranov, Karl-Philipp Rommel, Satyanarayana Achanta, Sergio Caravita, Vinay Kumar Reddy Vasanthu, Marat Fudim
HEART FAILURE CLINICS
(2024)
Article
Cardiac & Cardiovascular Systems
Gregory R. Jackson, Abhinav Singh
HEART FAILURE CLINICS
(2024)
Review
Cardiac & Cardiovascular Systems
Ronald D. Bass, Joseph Phillips, Jorge Sanz Sanchez, Priti Shah, Stephen Sum, Ron Waksman, Hector M. Garcia-Garcia
Summary: NIRS-derived LCBI is an effective measurement for identifying vulnerable patients and plaques at risk of future adverse events. Patients with an elevated LCBI have higher odds of enduring a future adverse event.
HEART FAILURE CLINICS
(2024)
Article
Cardiac & Cardiovascular Systems
Adam Bland, Eunice Chuah, William Meere, Thomas J. Ford
Summary: CMD is a challenging condition to manage due to its heterogenous pathophysiology, presentation, and response to therapy. Although awareness of CMD is improving, there is a lack of randomized trials for therapy. Invasive assessment of the coronary microcirculation can improve patient-centered outcomes. Beta-blockers are the cornerstone of therapy for CMD angina, and non-pharmacological interventions play a central role in management. Further research is needed to assess the impact of traditional and novel pharmacological therapies on symptoms and clinical events in different CMD endotypes.
HEART FAILURE CLINICS
(2024)
