Results 61 to 70 of about 5,873,224 (308)

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni, Cecile Pagan, Antony Citterio‐Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐Levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse‐Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar   +19 more
wiley   +1 more source

White Matter Microstructural Abnormalities in Neonatal Onset Genetic Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Recent evidence indicates that epilepsy is associated with abnormal white matter. If seizures alter white matter, then the impact upon network function, epileptogenesis, and cognition could be pronounced in neonates undergoing rapid developmental myelination. Neonates with epilepsy due to nonstructural genetic causes provide a unique
Amanda G. Sandoval Karamian, Tianjia Zhu, Hao Huang, Shavonne L. Massey, Mark P. Fitzgerald, Darshana Parikh, Arastoo Vossough, Ingo Helbig, Nicholas S. Abend   +8 more
wiley   +1 more source

Feasibility and effectiveness of telemedicine for adult patients with congenital heart disease: A one-year single-center experience-based studySummary table

International Journal of Cardiology Congenital Heart Disease
Introduction: The number of adults with congenital heart disease has significantly increased in recent years. While telemedicine has emerged as a promising approach to improve care delivery and patient outcomes, its use for adults with congenital ...
Nunzia Borrelli, Nicola Grimaldi, Flavia Fusco, Antonio Orlando, Michela Palma, Maria Cristina Boccia, Sabrina Bassolino, Anna Iervolino, Berardo Sarubbi   +8 more
doaj   +1 more source

Measuring myocardial extracellular volume of the right ventricle in patients with congenital heart disease

Scientific Reports, 2021
The right ventricle´s (RV) characteristics—thin walls and trabeculation—make it challenging to evaluate extracellular volume (ECV). We aimed to assess the feasibility of RV ECV measurements in congenital heart disease (CHD), and to introduce a novel ECV ...
Nadya Al-Wakeel-Marquard, Tiago Ferreira da Silva, Sarah Jeuthe, Sanaz Rastin, Frédéric Muench, Darach O h-Ici, Sevim Yilmaz, Felix Berger, Titus Kuehne, Daniel R. Messroghli   +9 more
doaj   +1 more source

Cognitive and Neuroimaging Divergence Between Juvenile and Adult FUS Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by progressive motor neuron degeneration. Fused in sarcoma (FUS)‐associated juvenile ALS (jALS) represents a distinct and aggressive subgroup with rapid deterioration and poor prognosis.
Alexandra V. Jürs, Marcel Naumann, Annaliis Lehto, Hanna Schön, Jens Kurth, Johannes Prudlo, Andreas Hermann, Elisabeth Kasper   +7 more
wiley   +1 more source

Off-label use of implantable devices and stents in congenital heart disease patient’s interventional procedures. a single center experience

BMC Cardiovascular Disorders
Background There have been great advances in the field of congenital heart disease (CHD) catheter intervention. Diseases that were previously considered only with surgical treatment options are now treated percutaneously with high success rates. However,
Amira Nour, Maiy El sayed, Azza Elfiky, Hebattallah Attia, Alaa Roshdy, Yasmeen Abdelrazik, Amr Mansour   +6 more
doaj   +1 more source

Fontan Failure: Current State of the Art in Mechanical Circulatory Support and Transplantation

Children
The Fontan procedure has rewritten the natural history of many children with congenital heart disease and univentricular physiology. However, long-term survival is limited by the development of haemodynamic and multisystem failure, leading to high ...
Rosaria Barracano, Gabriele De Palma, Claudia Montanaro, Vito Casale, Nunzia Borrelli, Antonella Bruna Cutrì, Micol Rebonato, Ippolita Altobelli, Gianfranco Butera, Giancarlo Scognamiglio, Berardo Sarubbi   +10 more
doaj   +1 more source

Rehabilitation program in adult congenital heart disease patients with pulmonary hypertension

, 2010
Introduction. It is commonly believed that physical activity may have a negative impact on pulmonary hypertension patients. The object of this study is to determine the tolerability of a directed exercise program in congenital heart disease patients with
Miranda Calderín, Guillermo, Ugarte-Lopetegui, Arantza, Rodríguez-González, Fayna, Martínez Quintana, Efrén, Efrén Martínez-Quintana, Arantza Ugarte-Lopetegui, Guillermo Miranda-Calderín, Fayna Rodríguez-González   +7 more
core   +1 more source

Re‐Purposing Sapropterin (Kuvan) for ACTA2‐Related Multisystemic Smooth Muscle Dysfunction Syndrome: A Translational Mechanistic and First‐In‐Human Therapeutic Report

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an ultra‐rare, ACTA2‐related disorder characterized by severe cerebrovascular disease, aortic aneurysms, and smooth muscle dysfunction. Using molecular dynamics simulations and in silico drug screening, we identified that sapropterin dihydrochloride (Kuvan) is a candidate capable of ...
Moran Hausman‐Kedem, Noa Bielopolski, Vijai Krishnan, Shane Wald‐Altman, Shelly I Shrian, Omer Bar‐Yosef, Livia Kapusta, Claire Shamber, Patricia L. Musolino, Miguel Weil   +9 more
wiley   +1 more source

Analysis of Genotypes and Phenotypes in Chinese Patients With Tuberous Sclerosis Complex Harboring Novel Variants of TSC1 and TSC2 Genes

International Journal of Genomics
Conclusions: This study broadens the spectrum of variants of TSC1 and TSC2 genes, reaffirming the clinical diagnosis of patients through genetic testing.
Jian Chen, Hairui Sun, Ling Han, Xiaoyan Gu, Xiaoyan Hao, Yuwei Fu, Zongjie Weng, Yi Xiong, Baomin Liu, Hongjia Zhang, Yihua He, Hong Li   +11 more
doaj   +1 more source