Results 81 to 90 of about 103,354 (261)

The Clinical Spectrum and Neurodevelopmental Pathogenesis of KPTN‐Related Disorder in a Mouse Model

Annals of Neurology, EarlyView.
Objective Pathogenic variants in Kaptin (KPTN) cause KPTN‐related disorder (KRD). KPTN modulates mTOR signaling activation within the KICSTOR complex in response to cellular amino acid levels. We define the clinical spectrum and investigate the developmental pathogenesis of KRD.
Lettie E. Rawlins, Philip H. Iffland II, John Page, Rebecca Z. Flessner, Soad M. Elziny, Irina Sbornova, Janice K. Babus, Sophie R. Bruckmeier, Ria Parikh, Merel Verhoeven, James Fasham, Joseph S. Leslie, Richard Caswell, Nishanka Ubeyratna, Olivia Wenger, Ethan M. Scott, John Schreiber, Steffen Syrbe, Annick Klabunde‐Cherwon, Martina Owens, Andrew H. Crosby, Emma L. Baple, Peter B. Crino, the KPTN Consortium, Andrea Seeley, Heather Rocha, Sabine Rudnick, Ulrich Schaatz, Tobias Haack, Eva Schwaibold, Caleb Bupp, Klaas Wierenga, John Schreiber, Thorkild Terkelsen, Sarina Kant, J. C. Herkert, Michael Wright, Boris Keren, Solveig Heide, Pamela Jackson, Pradeep Vasudevan, Helen Stewart, Perrine Charles, Andreas Hahn, Saskia Biskup, Inger‐Lise Mero, Martin Heier, Conny van Ravenswaaij‐Arts, Esther Nibbeling, Stephanie Efthymiou, Erum Afzal, Ian Ellis, Raza Maroofian, Almundher Al‐Maawali, David Coman, Anthony Morosini, Sajjad Biglari, Pooneh Nikuei, Saadet Mercimek‐Andrews, Prab Prabhakar, Raymond Louie, Kameryn Butler, Olivia Wenger, Ethan M. Scott, Andrea Seeley, Heather Rocha, Amber Begtrup, Sabine Rudnik, Ulrich Schatz, Tobias Haack, Eva Schwaibold, Caleb Bupp, Klaas Wierenga, John Schreiber, Thorkild Terkelsen, Sarina Kant, J. C. Herkert, Michael Wright, Boris Keren, Solveig Heide, Pamela Jackson, Pradeep Vasudevan, Helen Stewart, Perrine Charles, Andreas Hahn, Saskia Biskup, Inger‐Lise Mero, Martin Heier, Marijn Stokman, Conny van Ravenswaaij‐Arts, Esther Nibbeling, Stephanie Efthymiou, Erum Afzal, Kristina Zhelcheska, Henry Houlden, Ian Ellis, Reza Maroofian, Gholamreza Shariati, Hamid Galehdari, Almundher Al‐Maawali, Adila Al‐Kindi, Andrew Y. Shuen, Victoria Siu, Annick Klabunde‐Cherwon, Steffen Syrbe   +104 more
wiley   +1 more source

Beethoven’s terminal illness and death

Journal of the Royal College of Physicians of Edinburgh, 2006
There is dispute about the cause of Beethoven’s death; alcoholic cirrhosis, syphilis, infectious hepatitis, lead poisoning, sarcoidosis and Whipple’s disease have all been proposed. In this article all primary source documents related to Beethoven’s terminal illness and death are reviewed. The documents include his letters, the report of his physician
openaire   +2 more sources

Decoding the Pathophysiology of Autoimmune Diseases—Mechanism, Triggers, and Nanotherapeutics: A Review

Advanced NanoBiomed Research, EarlyView.
This review highlights how autoimmune diseases arise from intertwined immunological, genetic, and environmental factors, emphasizing gut microbiota dysbiosis as a pivotal driver. It outlines emerging nanotechnology‐based strategies—such as liposomes, hydrogels, and polymeric nanoparticles—that enhance targeted drug delivery, minimize systemic toxicity,
Md. Meraj Ansari, Yunhui Min, Eun‐Ju Ko, Doyoung Kwon, Rehan Khan, Young‐Ok Son   +5 more
wiley   +1 more source

Exploring the Dynamics of Caring for a Child With a Terminal Illness of Duchenne Muscular Dystrophy (DMD) and Its Copious Components on the Caregivers. [PDF]

Cureus, 2023
Balidemaj A, Parsamanesh P, Vysochyn M.
europepmc   +1 more source

Biathanatos revisited: Anabaptist perspectives on voluntarily stopping eating and drinking in the face of terminal illness. [PDF]

Palliat Care Soc Pract, 2022
Incorvaia AD.
europepmc   +1 more source

'There's something about admitting that you are lonely' - prevalence, impact and solutions to loneliness in terminal illness: An explanatory sequential multi-methods study. [PDF]

Palliat Med, 2022
Hanna JR, McConnell T, Harrison C, Patynowska KA, Finucane AM, Hudson B, Paradine S, McCullagh A, Reid J.   +8 more
europepmc   +1 more source

The decision for hospice care in patients with terminal illness in Shanghai: A mixed-method study. [PDF]

Int J Nurs Sci, 2022
Chen C, Lai X, Xu A, Yang S, Jin J, Yang H.   +5 more
europepmc   +1 more source

Integrating whole‐bone and regional analyses to understand human scapular growth

The Anatomical Record, EarlyView.
Abstract This study investigates ontogenetic changes in human scapular morphology using three‐dimensional geometric morphometrics with whole‐bone and region‐specific analyses. The aim is to evaluate whether the scapula follows a regular developmental pattern and whether its functionally distinct components, the scapular spine (SS) and glenoid fossa ...
Azahara Salazar‐Fernández, José Miguel Carretero, Laura Rodríguez, Rebeca García‐González   +3 more
wiley   +1 more source

A Pilot Study of the Impact of Virtually Embodying a Patient with a Terminal Illness. [PDF]

Med Sci Educ, 2021
Elzie CA, Shaia J.
europepmc   +1 more source

From concept to community of practice in anatomical ethics and professionalism: 5 years of the “Bioethics Unicorns” education initiative

Anatomical Sciences Education, EarlyView.
Abstract The topics of ethics and professionalism in anatomy have only recently gained prominence within the discipline, reflecting trends in medical and health professions education and an increasing awareness of societal expectations around the use of the dead.
Jon Cornwall, Sabine Hildebrandt, Thomas Champney   +2 more
wiley   +1 more source