Results 151 to 160 of about 2,033,302 (264)

Validation of a Cellular Imaging‐Based Method as a Potential Biomarker for SPG4 Hereditary Spastic Paraplegia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Hereditary Spastic Paraplegia (HSP) comprises a group of rare genetic diseases characterized by length‐dependent axonal degeneration of the corticospinal tracts and dorsal columns, whose main clinical feature is spastic gait. Pathogenic variants in the SPG4 gene cause Spastic Paraplegia Type 4 (SPG4‐HSP), the most common form of HSP.
Gaia Fattorini, Valerio Licursi, Gianmarco Dalla Zanna, Flavio Dal Canto, Melissa Barghigiani, Nunzio Setola, Salvatore Rossi, Antonio Funcis, Filippo M. Santorelli, Gabriella Silvestri, Carlo Casali, Francesca Sardina, Cinzia Rinaldo   +12 more
wiley   +1 more source

The role of tryptophan hydroxylase-1 in metabolic dysfunction-associated steatotic liver disease. [PDF]

Pediatr Investig
Jia S, Ye X, Wang Z, Wu J.
europepmc   +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

From Childhood Obesity to Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD) and Hyperlipidemia Through Oxidative Stress During Childhood

Background/Objectives: Metabolic dysfunction-associated steatotic liver disease (MASLD), previously known as non-alcoholic fatty liver disease (NAFLD), is rapidly becoming the most prevalent form of chronic liver disease in both pediatric and adult ...
Julia Barillas-Cerritos, Wendy Drewes, Frances Ross, Joshua De Leon, Shelly Gulkarov, Siham Accacha, Ankita Srivastava, Allison B. Reiss   +7 more
core   +1 more source

Association Between Hemoglobin A1c and Pediatric Asthma Control

Journal of Asthma and Allergy
Hewlett Pham,1 Rachelle Koehl,1 Han Woo,1 Tianshi David Wu,2 Anna Yue Qiu,1 Emily P Brigham,3 Nadia N Hansel,1 Meredith C McCormack1 1Division of Pulmonary and Critical Care Medicine, Department of Medicine, Johns Hopkins School of Medicine, Baltimore ...
Pham H, Koehl R, Woo H, Wu TD, Qiu AY, Brigham EP, Hansel NN, McCormack MC   +7 more
doaj  

Metabolic Dysfunction After Initiation of Androgen Receptor Pathway Inhibitors in Prostate Cancer. [PDF]

JAMA Oncol
Shaver AL, Zarrabi KK, Nikita N, Sharma S, Wen KY, Lu-Yao G.   +5 more
europepmc   +1 more source

Arterial Spin‐Labeling MRI at the Cortical‐CSF Interface: A Novel Biomarker in Alzheimer Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background/Objective Arterial spin‐labeling (ASL) MRI can measure perfusion signal adjacent to CSF spaces and may provide information regarding CSF‐adjacent water transport physiology. We developed an automated pipeline to extract cortical‐CSF interface (IF) perfusion for comparison between Alzheimer disease (AD) and cognitively normal ...
Mona Asghariahmadabad, Pouya Metanat, Michael Thomas, Luke W. Bonham, Tyson Lam, Mehmet Kurt, Hong Nguyen, Tara Ellingson, Mauro Zucchelli, Stefano Casagranda, Quin Lu, Andreas M. Rauschecker, Leo Sugrue, Luis E. Savastano, Christopher P. Hess, Kamalini Ranasinghe, S. Andrew Josephson, Bruce L. Miller, Jennifer S. Yokoyama, Gil D. Rabinovici, Peter A. Ljubenkov, Lawren VandeVrede, Kambiz Nael   +22 more
wiley   +1 more source

Economic Impact of Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD) in Italy. Analysis and Perspectives [PDF]

Enrico Torre,1 Sergio Di Matteo,2 Chiara Martinotti,2 Giacomo Matteo Bruno,3 Umberto Goglia,4 Gianni Testino,5 Alberto Rebora,1 Luigi Carlo Bottaro,6 Giorgio Lorenzo Colombo3 1Diabetology and Metabolic Diseases Unit - ASL3, Genoa, Italy; 2Center of ...
Martinotti C, Rebora A, Bottaro LC, Di Matteo S, Colombo GL, Goglia U, Testino G, Bruno GM, Torre E   +8 more
core  

Beyond Obesity: Sex-Specific Associations of Vaspin with Metabolic Dysfunction. [PDF]

J Clin Med
Sperling M, Czyżewska K, Pelczyńska M, Bogdański P, Formanowicz D, Mądry E, Grzelak T.   +6 more
europepmc   +1 more source

Safety and Efficacy of GLP‐1 Receptor Agonists in Adults With Epilepsy, Obesity, and Type 2 Diabetes

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Managing obesity in patients with epilepsy is complicated by the weight‐gaining properties of essential antiseizure medications (ASMs) such as valproate and pregabalin. We evaluated the safety and efficacy of initiating glucagon‐like peptide‐1 receptor agonists (GLP‐1 RAs) in this population.
Hyoshin Son, Inyoung Hwang, Sang Won Lee, Yun Kim   +3 more
wiley   +1 more source