Results 131 to 140 of about 344,926 (288)

Compound Heterozygous MRPS14 Variants Associated With Leigh Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT MRPS14 (uS14m) is a nuclear‐encoded ribosomal protein important for mitochondria‐specific translation. To date, only a single individual with a recessive MRPS14‐related disorder (also known as COXPD38) has been reported. We report an additional subject possessing novel compound heterozygous MRPS14 variants (p.Asp37Asn, p.Asn60Asp). The subject
Maria Gabriela Otero, Christina Freeman, Ruchi Shah, Renkui Bai, Hong Cui, Marian Castro, Zachary Myers, Eric Choy, Derek Chan, Molly Easter, Sophia Y. Zhao, Madeline Babros, Ruchi Garg, Matthew Deardorff, Franklin Moser, Tyler Mark Pierson   +15 more
wiley   +1 more source

Histone Deacetylase 6 Brain PET in Amyotrophic Lateral Sclerosis‐Frontotemporal Spectrum Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective [18F]EKZ‐001 is a positron emission tomography (PET) tracer targeting histone deacetylase 6 (HDAC6), an enzyme responsible for intracellular transport and clearance of misfolded proteins. HDAC6 modulation is a promising treatment strategy in neurodegenerative disorders, including amyotrophic lateral sclerosis (ALS).
Greet Vanderlinden, Charles Carron, Donatienne Van Weehaeghe, Joke De Vocht, Fouke Ombelet, Pegah Masrori, Caro De Weerdt, Rebecca E. James, Lauren T. Evans, Frederick A. Schroeder, Jacob M. Hooker, Michel Koole, Janice E. Kranz, Tonya M. Gilbert, Philip Van Damme, Koen Van Laere   +15 more
wiley   +1 more source

Nuclei‐Specific Amygdala Enlargement Is Linked to Psychiatric Comorbidities in Drug‐Resistant Focal Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amygdala enlargement has been the subject of controversial studies regarding its significance in terms of pathogenicity both in epilepsy and in psychiatric comorbidities such as anxiety, depression, and post‐traumatic stress disorder.
Hélène Mourre, Julia Makhalova, Lisa Soncin, Elodie Garnier, Hugo Dary, Arnaud Le Troter, Roy A. M. Haast, Benoit Testud, Marie Arthuis, Samuel Medina Villalon, Stanislas Lagarde, Francesca Pizzo, Christian Bénar, Jean‐Philippe Ranjeva, Maxime Guye, Fabrice Bartolomei   +15 more
wiley   +1 more source

Applied Computer Vision on 2-Dimensional Lung X-Ray Images for Assisted Medical Diagnosis of Pneumonia

International Journal of Computing Sciences Research, 2023
Ralph Joseph Ligueran, Manuel Luis Delos Santos, Ronaldo Tinio, Emmanuel Valencia   +3 more
doaj   +1 more source

Applications of machine learning for immunophenotypic measurable residual disease assessment in acute myeloid leukemia. [PDF]

Hemasphere
Mocking TR, van de Loosdrecht AA, Cloos J, Bachas C.   +3 more
europepmc   +1 more source

Serotonergic and Dopaminergic Function in Neuropsychiatrically Asymptomatic People With HIV on Antiretroviral Therapy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective People with HIV (PWH) on antiretroviral therapy (ART) still experience neurocognitive dysfunction and accelerated brain volume loss. To assess whether the serotonergic and dopaminergic systems are affected, we used [11C]DASB positron emission tomography (PET) to assess presynaptic serotonergic function and [18F]FDOPA PET to measure ...
Chuen‐Yen Lau, Anna Lyndaker, Swati Shah, Paul Wakim, Amelia Mitchell, Cynthia Monroe, Alan Kim, Tracy L. Cropper, Govind Nair, Joseph Snow, Bryan R. Smith, Avindra Nath, Dima A. Hammoud   +12 more
wiley   +1 more source

Artificial intelligence-assisted multimodal imaging for the clinical applications of breast cancer: a bibliometric analysis. [PDF]

Discov Oncol
Hou C, Huang T, Hu K, Ye Z, Guo J, Zhou H.   +5 more
europepmc   +1 more source

Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Approximately half of patients with hereditary myopathies remain without a definitive genetic diagnosis after DNA next‐generation sequencing (NGS). Here, we implemented transcriptome analysis of muscle biopsies as a complementary diagnostic tool for patients with muscle disease but no definitive genetic diagnosis after exome ...
Alba Segarra‐Casas, Cristina Domínguez‐González, Daniel Natera‐de Benito, Solange Kapetanovic, Aurelio Hernández‐Laín, Berta Estévez‐Arias, Laura Llansó, Carlos Ortez, Cristina Jou, Itxaso Martí‐Carrera, Arístides López‐Márquez, Maria José Rodríguez, Laura González‐Mera, Velina Nedkova, Roberto Fernández‐Torrón, Benjamín Rodríguez‐Santiago, Cecília Jimenez‐Mallebrera, Raul Juntas‐Morales, Adolfo López‐de Munain, Jordi Surrallés, Andrés Nascimento, Eduard Gallardo, Montse Olivé, Pia Gallano, Lidia González‐Quereda   +24 more
wiley   +1 more source

Comment on the "Diagnostic value of a computer- -assisted diagnosis system for the ultrasound features in thyroid nodules". [PDF]

Arch Endocrinol Metab
Bozer A.
europepmc   +1 more source

Patient Perceptions of Medication Therapy for Prevention of Posttraumatic Osteoarthritis Following Anterior Cruciate Ligament Injury: A Qualitative Content Analysis

Arthritis Care &Research, EarlyView.
Objective Posttraumatic osteoarthritis (PTOA) accounts for nearly 12% of osteoarthritis incidences and often occurs after anterior cruciate ligament (ACL) tear. Ensuring the uptake of preventive treatments for PTOA requires that investigators and clinicians understand factors influencing patients to seek preventive therapies.
Lily M. Waddell, Donald P. Mitchener, Kelly C. Frier, Morgan H. Jones, Elena Losina, Nick Bansback, Liana Fraenkel, Jason S. Kim, Jeffrey N. Katz, Faith Selzer, Adam Easterbrook   +10 more
wiley   +1 more source