Results 41 to 50 of about 65,918 (263)

Ptosis: Evaluation and management

Kerala Journal of Ophthalmology, 2019
Blepharoptosis, or ptosis of the eyelid, refers to drooping of the upper eyelid that usually results from a congenital or acquired abnormality of the muscles that elevate the eyelid.
Marian Pauly, R Sruthi
doaj   +1 more source

Development and Assessment of an Artificial Intelligence-Based Tool for Ptosis Measurement in Adult Myasthenia Gravis Patients Using Selfie Video Clips Recorded on Smartphones

Digital Biomarkers, 2023
Introduction: Myasthenia gravis (MG) is a rare autoimmune disease characterized by muscle weakness and fatigue. Ptosis (eyelid drooping) occurs due to fatigue of the muscles for eyelid elevation and is one symptom widely used by patients and healthcare ...
Meelis Lootus, Lulu Beatson, Lucas Atwood, Theo Bourdais, Sandra Steyaert, Chethan Sarabu, Zeenia Framroze, Harriet Dickinson, Jean-Christophe Steels, Emily Lewis, Nirav R. Shah, Francesca Rinaldo   +11 more
doaj   +1 more source

Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome [PDF]

, 2010
Background The introduction of molecular karyotyping technologies facilitated the identification of specific genetic disorders associated with imbalances of certain genomic regions.
Bena, F, Bottani, A, Breckpot, J, Cheung, SW, Devriendt, K, Fong, CT, Friedman, JM, Fryns, JP, Gimelli, S, Gorski, JL, Grange, DK, Kussmann, JL, Menten, Björn, Morris, MM, Mortier, Geert, Philip, N, Salamone, JM, Scalais, E, Thienpont, B, Van Esch, H, Vermeesch, JR, Villard, L, Yong, SL, Zahir, F   +23 more
core   +2 more sources

Tratamiento quirúrgico de ptosis palpebral miogénica adquirida [PDF]

, 2005
Objective: To report the surgical outcome of aponeurosis surgery in patients with acquired myogenic eyelid ptosis and describe surgical guidelines for their correction.
Becerra, E.M. (E. M.), Bianciotto, C. (C.), Blanco, G. (G.), Muiños, Y. (Y.)   +3 more
core   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Galectin-1 sensitizes resting human T lymphocytes to Fas (CD95)-mediated cell death via mitochondrial hyperpolarization, budding, and fission. [PDF]

, 2005
Galectins have emerged as a novel family of immunoregulatory proteins implicated in T cell homeostasis. Recent studies showed that galectin-1 (Gal-1) plays a key role in tumor-immune escape by killing antitumor effector T cells.
Ascione, Barbara, Bianco, German Ariel, Malorni, Walter, Matarrese, Paola, Mormone, Elisabetta, Rabinovich, Gabriel Adrián, Tinari, Antonella, Toscano, Marta Alicia   +7 more
core   +1 more source

Immune Checkpoint Inhibitor–Related Myositis and Associated Triad Overlap Syndrome

Arthritis Care &Research, EarlyView.
Objective Immune checkpoint inhibitor (ICI) myositis is a rare but a highly morbid condition, particularly with the ICI myositis triad syndrome of myositis, myocarditis, and myasthenia gravis. We report the clinical characteristics of ICI myositis and all‐cause mortality in these patients.
Selene Rubino, Grant W. Cannon, Brian C. Sauer, Jorge Rojas, Gregory J. Stoddard, Gary A. Kunkel, Jessica A. Walsh, Bryant R. England, Joshua F. Baker, Tawnie J. Braaten   +9 more
wiley   +1 more source

Cysticercosis of midbrain presenting with fluctuating ptosis

Annals of Indian Academy of Neurology, 2011
Fluctuating ptosis is usually caused by Myasthenia gravis. There are a few case reports of central causes of fluctuating ptosis. A 58-year-old man presented with fluctuating ptosis of one year duration.
M Netravathi, A S Banuprakash, Renu Khamesra, N Hemantakumar Singh   +3 more
doaj   +1 more source

Progression of myopathology in Kearns-Sayre syndrome [PDF]

, 1992
We report on the progression of myopathology by comparing two biopsies from a patient with a Kearns-Sayre-Syndrome. The first biopsy was taken in 1979 and showed 10% ragged-red fibers.
B. Meurers, CT Moraes, H Reichmann, Heinz Reichmann, I Nonaka, JA Morgan-Hughes, M. Naumann, P. Seibel, R. Gold, T. Klopstock, U. Walter, V Dubowitz   +11 more
core   +1 more source

Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are a group of genetic disorders caused by pathogenic variants in the RAS‐mitogen‐activated protein kinase (RAS–MAPK) signaling pathway, often presenting with congenital heart defects, craniofacial dysmorphisms, and developmental delays. To assess the diagnostic yield of genetic testing in patients with suspected RASopathies and to
Emanuele Bobbio, Martina Caiazza, Emanuele Monda, Giustina Aruta, Alberto Budillon, Augusto Esposito, Adelaide Fusco, Annapaola Cirillo, Marta Rubino, Immacolata Viscovo, Gioacchino Scarano, Matteo Della Monica, Vincenzo Nigro, Giulio Piluso, Leandro Pecchia, Maria Giovanna Russo, Giuseppe Limongelli   +16 more
wiley   +1 more source