Results 71 to 80 of about 49,995 (262)

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Mitral Valve Surgery with and Without Mitral Annular Disjunction: A Meta-Analysis

Journal of Cardiovascular Development and Disease
Background/Objectives: Despite growing awareness of mitral annular disjunction’s (MAD) clinical significance, robust data regarding the outcomes of surgical interventions on MAD remain sparse.
Massimo Baudo, Francesco Cabrucci, Francesca Maria Di Muro, Dimitrios E. Magouliotis, Beatrice Bacchi, Arian Arjomandi Rad, Andrew Xanthopoulos, Tulio Caldonazo, Michele D’Alonzo   +8 more
doaj   +1 more source

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

Development of immunocompetent models for primary and metastatic ER+ breast cancer

Animal Models and Experimental Medicine, EarlyView.
This study explores syngeneic, immunocompetent models of ER+ breast cancer in 129S6/SvEv mice, using trackable tumor cells to model both primary tumors and metastasis. The models show promise, while also revealing limitations for studying advanced disease and immune interactions.
Devon M. Bull, Jody Hazlett, Emily Schulpen, Sophie Tunnicliffe, Alexander D. McLellan, Anita K. Dunbier   +5 more
wiley   +1 more source

Mad Studies: The Basics

International Mad Studies Journal
Earlier this year I published a book entitled, Mad Studies: The Basics. This book introduces Mad Studies as a critical orientation akin to, and often intersecting with, crip theory, queer theory, critical race studies, feminism, decolonialism, and other critical studies. As this suggests, Mad Studies is not simply the study of mental health and illness.
openaire   +2 more sources

Multimorbidity and Associations with Cognition and Alzheimer's Disease Biomarkers

Annals of Neurology, EarlyView.
Objective Multimorbidity, the coexistence of 2 or more chronic conditions, has been linked to cognitive aging and Alzheimer's disease (AD) and AD‐related dementias, yet the mechanisms remain unclear. We aimed to examine the associations of multimorbidity with cognition and biomarkers across multiple mechanistic pathways.
Xiaqing Jiang, Sid E. O'Bryant, Robert A. Rissman, Leigh A. Johnson, Meredith N. Braskie, Kristine Yaffe, the HABS‐HD Study Team, Sid E. O'Bryant, Kristine Yaffe, Arthur Toga, Robert Rissman, Leigh Johnson, Meredith Braskie, Kevin King, James R. Hall, Melissa Petersen, Raymond Palmer, Robert Barber, Yonggang Shi, Fan Zhang, Rajesh Nandy, Roderick McColl, David Mason, Bradley Christian, Nicole Phillips, Stephanie Large, Joe Lee, Badri Vardarajan, Monica Rivera Mindt, Amrita Cheema, Lisa Barnes, Mark Mapstone, Annie Cohen, Amy Kind, Ozioma Okonkwo, Raul Vintimilla, Zhengyang Zhou, Michael Donohue, Rema Raman, Matthew Borzage, Michelle Mielke, Beau Ances, Ganesh Babulal, Jorge Llibre‐Guerra, Carl Hill, Rocky Vig   +45 more
wiley   +1 more source

Mitral annulus disjunction in consecutive patients undergoing cardiovascular magnetic resonance: Where is the boundary between normality and disease?

Journal of Cardiovascular Magnetic Resonance
: Background: The presence of mitral annulus disjunction (MAD) has been considered a high-risk feature for sudden cardiac death based on selected study populations.
Stefano Figliozzi, Kamil Stankowski, Lara Tondi, Federica Catapano, Mauro Gitto, Costanza Lisi, Sara Bombace, Marzia Olivieri, Francesco Cannata, Fabio Fazzari, Renato Maria Bragato, Georgios Georgiopoulos, Pier-Giorgio Masci, Lorenzo Monti, Gianluigi Condorelli, Marco Francone   +15 more
doaj   +1 more source

Why Mad Studies Needs Survivor Research and Survivor Research Needs Mad Studies [PDF]

, 2016
Mad Studies and survivor research are emerging fields of enquiry whose goals and boundaries are continually being shaped. This paper aims to explore intersections between the two fields and argues that fostering a stronger relationship could bring strengths to each.
openaire   +1 more source

Speech Biomarkers for Quantifying Effects of Subthalamic Deep Brain Stimulation in Parkinson's Disease

Annals of Neurology, EarlyView.
Objective Dysarthria is one of the most common and disabling side effects of subthalamic nucleus deep brain stimulation (STN‐DBS) in Parkinson's disease (PD). Stimulation often exacerbates speech dysfunction beyond the effects of PD progression, likely because of current spread to structures surrounding the STN.
Petr Krýže, Mário Sousa, Vojtěch Illner, Adriana Jorge, Matilde Castelli, Ines Debove, Andreia D. Magalhães, Julia Waskönig, Lenard Lachenmayer, Joan Philipp Michelis, Gerd Tinkhauser, Deborah Amstutz, Marie Elise Maradan‐Gachet, Katrin Petermann, Claudio Pollo, Tobias Nef, Paul Krack, Jan Rusz   +17 more
wiley   +1 more source

Reflections from “Revisioning Feminist Engagements with Madness”: Borderline, Futurity, and Debility

Atlantis
This commentary builds on my presentation in the panel “Revisioning Feminist Engagements with Madness” at the 2023 Women’s, Gender, and Social Justice annual conference.
Erin Tichenor
doaj