Results 51 to 60 of about 7,407 (176)

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Measuring Child Disadvantage: Comparing Multidimensional and Socioeconomic Approaches for Predicting Developmental Outcomes

Australian Journal of Social Issues, EarlyView.
ABSTRACT Robust measurement of disadvantage is essential to identifying and addressing inequities in children's development. We tested how a multidimensional framework of child disadvantage performed relative to a traditional socioeconomic position (SEP) approach to predict developmental outcomes.
Wei Hong, Fiona Mensah, Elodie O'Connor, Shuaijun Guo, Sharon Goldfeld, Meredith O'Connor, Cindy Pham, Sarah Gray   +7 more
wiley   +1 more source

Judicial Perspectives on Neurodiversity in Queensland Courts, Tribunals and Commissions: Experiences With Disclosure and Witness Credibility

Australian Journal of Social Issues, EarlyView.
ABSTRACT Little is known about the impacts of the disclosure, or the non‐disclosure, of medical conditions associated with neurodiversity in the context of court proceedings and hearings before tribunals and commissions. This paper examines the experiences of twenty‐three Queensland Judges, Magistrates, and Tribunal and Commission Members with ...
Danielle Bozin, Karen A. Sullivan, Vincent Denault, Catherine Kennon, Lucy Cradduck, Rachel Hews   +5 more
wiley   +1 more source

A preclinical mouse model mimicking the ovarian cancer‐induced estrogen deficiency‐depression axis

Animal Models and Experimental Medicine, EarlyView.
A preclinical mouse model of ovarian cancer–related depression was developed by combining intraperitoneal tumor cell injection, ovariectomy, and chronic restraint stress. The model replicates key clinical features including estrogen deficiency, depressive‐like behaviors, and tumor progression, and provides a reliable tool for studying the endocrine ...
Jiamin Liu, Yafei Yang, Chunxi Liu, Danting Wen, Tingyu Zhao, Ping Xie, Jing Xiao   +6 more
wiley   +1 more source

Animal models in molecular biology research: Challenges, ethical imperatives, and the path to human‐relevant translation

Animal Models and Experimental Medicine, EarlyView.
The graphical abstract shows how molecular biology research has shifted from using traditional animal models toward using methods that are more relevant to humans. It points out the main problems, differences between species, difficulty in reproducing results, moral issues, and lack of infrastructure that make translational accuracy harder to achieve ...
Md. Shajid Hossain Rafi, Md. Taslim Sarker, Ferdous‐Ul‐Haque Joy, Shahriar Mohd Shams, Tahmina Foyez, Md. Abdul Mazid, Syed Masudur Rahman Dewan   +6 more
wiley   +1 more source

Multimodal Image Guidance in Subthalamic Deep Brain Stimulation for Parkinson's Disease

Annals of Neurology, EarlyView.
Objective Accurate electrode placement and individual stimulation parameters influence the outcomes of subthalamic deep brain stimulation in Parkinson's disease. Neuroimaging‐based models can help evaluate how electrode placement impacts improvement, aiming to reduce the burden of programming.
Patricia Zvarova, Christina van der Linden, Ningfei Li, Konstantin Butenko, Thea Berger, Garance M. Meyer, Ilkem Aysu Sahin, Lukas L. Goede, Bahne H. Bahners, Barbara Hollunder, Till A. Dembek, Andrew R. Pines, Martin Reich, Jens Volkmann, Vincent J. J. Odekerken, Rob M. A. de Bie, Xin Xu, Zhipei Ling, Chen Yao, Andrea A. Kühn, Surjo R. Soekadar, Kerstin Ritter, Michael T. Barbe, Veerle Visser‐Vandewalle, Michael D. Fox, Jan Niklas Petry‐Schmelzer, Nanditha Rajamani, Andreas Horn   +27 more
wiley   +1 more source

Alzheimer's Disease Co‐Pathology and Cognitive Impairment in Amyotrophic Lateral Sclerosis

Annals of Neurology, EarlyView.
Objectives Amyotrophic lateral sclerosis (ALS) and Alzheimer's disease (AD) share neuropathological features, including tau, amyloid, and TDP‐43 pathology. This study investigated whether AD‐related pathological changes are associated with cognitive impairment ALS. Methods Cerebrospinal fluid (CSF total‐tau, phosphorylated‐tau, beta‐amyloid) and plasma
Elisabeth Kasper, Annaliis Lehto, Alexandra Jürs, Nina Nordmann, Oliver Peters, Julian Hellmann, Josef Priller, Eike Jakob Spruth, Gabor C. Petzold, Ina Voigt, Patrick Weydt, Sarah Bernsen, Elisabeth Dinter, Björn Falkenburger, René Günther, Emrah Düzel, Wenzel Glanz, Matthis Synofzik, Lukas Beichert, Annika Spottke, Michael Wagner, Frederic Brosseron, Matthias C. Schmid, Annett Halle, Jochen Herms, Anja Schneider, Stefan Teipel, Johannes Prudlo, Manuela Neumann, Andreas Hermann   +29 more
wiley   +1 more source

Frequency‐ and Network‐Specific Changes in Functional Connectivity Reflect Pathophysiological Mechanisms across Parkinson's Disease Stages

Annals of Neurology, EarlyView.
Objective Parkinson's disease (PD) is increasingly conceptualized as a disorder of large‐scale brain networks, yet whether and how frequency‐specific functional connectivity reorganizes across stages remains poorly understood. In this study, we used high‐density electroencephalography (EEG) to characterize cortico‐cortical functional connectivity ...
Matteo Conti, Valentina D'Onofrio, Luca Lorenzon, Laura Ludovica Grassi, Davide Mascioli, Valerio Ferrari, Clara Simonetta, Sofia Pavan, Francesca Di Giuliano, Mariangela Pierantozzi, Tommaso Schirinzi, Diego Centonze, Maurizio Corbetta, Angelo Antonini, Alessandro Stefani, Andrea Guerra   +15 more
wiley   +1 more source

Ursolic Acid Alleviates Orchitis via Modulating Ferroptosis in Peritubular Myoid Cells of Testis

Animal Research and One Health, EarlyView.
Ursolic acid modulates key ferroptosis‐related pathways in the peritubular myoid cells of the testis in forest musk deer. ABSTRACT Chronic stress adversely affects reproductive health, increasing susceptibility to pathologies such as orchitis. Additionally, the maintenance of iron homeostasis is essential for preserving the function of the testicles ...
Yang Wang, Tianqi Jin, Zexin Chen, Ye Gong, Qimin Liu, Zifang Wu, Heran Cao, Yan Li, Yuyan Liu, Tianhao Yang, Zhihong Jiang, Wuzi Dong   +11 more
wiley   +1 more source