Results 91 to 100 of about 1,057,814 (256)

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

Incomplete Optic Atrophy

, 1971
Presenting Symptom: Optic atrophy. Pathology: Optic disk pallor. Pallor of the temporal side of the disc - the hallmark of partial optic atrophy - is not always easy to differentiate from the normal appearance of the disc.
David G. Cogan, MD (1908-1993)
core  

A rhesus macaque model of α‐dystroglycanopathy caused by a POMT1 splice altering variant

Animal Models and Experimental Medicine, EarlyView.
Rhesus macaques homozygous for a naturally occurring spice altering variant in the POMT1 gene develop lissencephaly, microphthalmia, and muscular contracture. The presentation models severe presentation of the human Walker‐Warburg syndrome. Abstract Background Biallelic mutations in genes associated with α‐dystroglycan glycosylation manifest in a ...
Anya Nordlund, Brian LaMendola, Nathan P. Crilly, Seth Kittle, Betsy M. Ferguson, Anne D. Lewis, Jeff Wall, Samuel M. Peterson   +7 more
wiley   +1 more source

Walsh & Hoyt: Optic Atrophy

, 2005
Optic atrophy is not a disease. It is a nonspecific morphologic end point of disease (any disease) that causes damage to ganglion cells and axons of the optic nerve.
Alfredo A. Sadun, MD, PhD; Madhu R. Agarwal, MD
core  

Dynamics Simulation of Remotely Operated Vehicle-Fiber Optic Micro Cable System [PDF]

, 2008
Li Q, Xu H, Zhang Q, Wang X, Li ZG. Dynamics Simulation of Remotely Operated Vehicle-Fiber Optic Micro Cable System.
Li, ZhiGang, Li ZG(李智刚), Xu, Hongli, Zhang QF(张奇峰), Qiang Li, Li, Qiang ; https://orcid.org/, Wang, Xiaohui, Xiaohui Wang, Zhigang Li, Wang XH(王晓辉), Hongli Xu, Qifeng Zhang, Zhang, Qifeng, Li Q(李强), Xu HL(徐红丽)   +14 more
core   +1 more source

Adenosine monophosphate–activated protein kinase activation is associated with suppression of NLRP3 inflammasome–mediated neuroinflammation in a weight‐drop model of traumatic brain injury in Sprague–Dawley rats

Animal Models and Experimental Medicine, EarlyView.
This graphical abstract illustrates the study's schematic model. Adenosine monophosphate–activated protein kinase (AMPK) activators exhibited neuroprotection in the weight‐drop model of traumatic brain injury by improving cognition and regulating oxidative stress, microglial activation, and nucleotide‐binding oligomerization domain, leucine‐rich repeat,
Triveni Kodi, Paka Sravan Kumar, Krishnadas Nandakumar, Anoop Kishore   +3 more
wiley   +1 more source

From Interferon Signature to the Clinical Landscape: Type I Interferonopathies

Arthritis &Rheumatology, EarlyView.
Objective TypeI interferonopathies are heterogeneous diseases driven by dysregulated type I interferon (IFN‐I) signaling. Diagnosis is challenging due to clinical/molecular variability and the need for IFN‐I quantification. The aim of this study was to characterize the clinical, immunologic, genetic, molecular profiles of patients with suspected ...
Ismail Yaz, Seza Ozen, Hacer Neslihan Bildik, Canberk Ipsir, Dilara Unal, Saliha Esenboga, Begum Cicek, Mehmet Emin Seker, Fatima Aerts‐Kaya, Seher Sener, Mehmet Orhan Erkan, Hanife Avci, Deniz Cagdas, Ilhan Tezcan   +13 more
wiley   +1 more source

Optic Atrophy and Disc Morphology

, 2022
Dr.
Andrew G. Lee, MD
core  

Cancer in Systemic Sclerosis: Clinical Associations and Prognostic Impact From the EUSTAR Registry

Arthritis &Rheumatology, EarlyView.
Objective Cancer represents a major cause of death in systemic sclerosis (SSc). Established risk factors are limited to specific subsets, particularly early diffuse anti‐RNA polymerase III (POLR3)–positive disease, needing further exploration. Methods We performed a nested case‐control study within the European Scleroderma Trials and Research group ...
Antonio Tonutti, Francesca Motta, Liala Moschetti, Cosimo Bruni, Carina Mihai, Claudia Iannone, Maria Rosa Pellico, Stefano Stano, Stefano Erba, Claudia Barison, Eleonora Pazzi, Andrea Benini, Beatrice Moccaldi, Kurszán Jász Dávid, Ágnes Ágoston‐Szabó, Beatrice Gabrielli, Francesca Nava, Dóra Tari, Francesca Romana Di Ciommo, Yuri Sasaki, Gonçalo Boleto, Radim Bečvář, Alejandro Brigante, Britta Maurer, Massimiliano Limonta, Rahma A. Elziaty, Fabiola Atzeni, Lilian Maria López Núñez, Roberta Foti, Francesco Benvenuti, Brigitte Granel, Elena Rezus, Leila Caillault, Sophie Blaise, Cristiana Sieiro Santos, Fabio Cacciapaglia, Roberto Giacomelli, Rossella De Angelis, Serena Guiducci, Duygu Temiz Karadag, Gabriella Szűcs, Luca Idolazzi, Gábor Kumánovics, Florenzo Iannone, Maurizio Cutolo, Gianluca Moroncini, Valeria Riccieri, Nicoletta Del Papa, Elisabetta Zanatta, Oliver Distler, Masataka Kuwana, Carlo Selmi, Maria De Santis   +52 more
wiley   +1 more source

Shining the light on childhood trauma in Ohio

, 2006
Title from PDF cover (viewed on June 21, 2007).; "Sponsored by the Ohio Department of Mental Health and the Childhood Trauma Task Force in partnership with the Ohio Family and Children First Cabinet Council"--P. 2 of cover.; "November 2006"--P.
Ohio. Childhood Trauma Task Force.
core