Results 41 to 50 of about 317,299 (224)

Synchronous functional magnetic resonance eye imaging, video ophthalmoscopy, and eye surface imaging reveal the human brain and eye pulsation mechanisms [PDF]

arXiv, 2023
Recent research shows the eye has a paravascular solute transport pathway driven by physiological pulsations resembling the brain. we developed synchronous multimodal imaging tools aimed at measuring the driving pulsations of the human eye. We used an eye-tracking functional eye camera (FEC) compatible with magnetic resonance imaging (MRI) for ...
arxiv  

The clinical spectrum of SMA‐PME and in vitro normalization of its cellular ceramide profile

Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1941-1952, December 2022., 2022
Abstract Objective The objectives of this study were to define the clinical and biochemical spectrum of spinal muscular atrophy with progressive myoclonic epilepsy (SMA‐PME) and to determine if aberrant cellular ceramide accumulation could be normalized by enzyme replacement.
Michelle M. Lee, Graeme S. V. McDowell, Darryl C. De Vivo, Daniel Friedman, Samuel F. Berkovic, Maria Spanou, Argirios Dinopoulos, Katheryn Grand, Pedro A. Sanchez‐Lara, Michelle Allen‐Sharpley, Jodi Warman‐Chardon, Alexander Solyom, Thierry Levade, Edward H. Schuchman, Steffany A. L. Bennett, David A. Dyment, Toni S. Pearson   +16 more
wiley   +1 more source

Seeing the World through Your Eyes [PDF]

arXiv, 2023
The reflective nature of the human eye is an underappreciated source of information about what the world around us looks like. By imaging the eyes of a moving person, we can collect multiple views of a scene outside the camera's direct line of sight through the reflections in the eyes.
arxiv  

Recognizing early MRI signs (or their absence) is crucial in diagnosing metachromatic leukodystrophy

Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1999-2009, December 2022., 2022
Abstract Objectives Metachromatic leukodystrophy (MLD) has characteristic white matter (WM) changes on brain MRI, which often trigger biochemical and genetic confirmation of the diagnosis. In early or pre‐symptomatic disease stages, these typical MRI changes might be absent, hampering early diagnosis.
Daphne H. Schoenmakers, Shanice Beerepoot, Ingeborg Krägeloh‐Mann, Saskia Elgün, Benjamin Bender, Marjo S. van der Knaap, Nicole I. Wolf, Samuel Groeschel   +7 more
wiley   +1 more source

Addressing persistent challenges in digital image analysis of cancer tissue: resources developed from a hackathon

Molecular Oncology, EarlyView.
Large multidimensional digital images of cancer tissue are becoming prolific, but many challenges exist to automatically extract relevant information from them using computational tools. We describe publicly available resources that have been developed jointly by expert and non‐expert computational biologists working together during a virtual hackathon
Sandhya Prabhakaran, Clarence Yapp, Gregory J. Baker, Johanna Beyer, Young Hwan Chang, Allison L. Creason, Robert Krueger, Jeremy Muhlich, Nathan Heath Patterson, Kevin Sidak, Damir Sudar, Adam J. Taylor, Luke Ternes, Jakob Troidl, Xie Yubin, Artem Sokolov, Darren R. Tyson   +16 more
wiley   +1 more source

Genetics for the ophthalmologist

Oman Journal of Ophthalmology, 2012
The eye has played a major role in human genomics including gene therapy. It is the fourth most common organ system after integument (skin, hair and nails), nervous system, and musculoskeletal system to be involved in genetic disorders.
Karthikeyan A Sadagopan, Jenina Capasso, Alex V Levin   +2 more
doaj   +1 more source

Germline variants in CDKN2A wild‐type melanoma prone families

Molecular Oncology, EarlyView.
Among melanoma‐prone families, wild‐type for CDKN2A and CDK4, some have pathogenic variants in genes not usually linked to melanoma. Furthermore, rare XP‐related variants and variants in MC1R are enriched in such families. Germline pathogenic variants in CDKN2A are well established as an underlying cause of familial malignant melanoma. While pathogenic
Gjertrud T. Iversen, Marie Loeng, Amalie Lund Holth, Per E. Lønning, Jürgen Geisler, Stian Knappskog   +5 more
wiley   +1 more source

Chemoresistome mapping in individual breast cancer patients unravels diversity in dynamic transcriptional adaptation

Molecular Oncology, EarlyView.
This study used longitudinal transcriptomics and gene‐pattern classification to uncover patient‐specific mechanisms of chemotherapy resistance in breast cancer. Findings reveal preexisting drug‐tolerant states in primary tumors and diverse gene rewiring patterns across patients, converging on a few dysregulated functional modules. Despite receiving the
Maya Dadiani, Gilgi Friedlander, Gili Perry, Nora Balint‐Lahat, Shlomit Gilad, Dana Morzaev‐Sulzbach, Anjana Shenoy, Noa Bossel Ben‐Moshe, Anya Pavlovsky, Rinat Bernstein‐Molho, Eytan Domany, Iris Barshack, Tamar Geiger, Bella Kaufman, Einav Nili Gal‐Yam   +14 more
wiley   +1 more source

Characterisation of the role played by ELMO1, GPR141 and the intergenic polymorphism rs918980 in Fuchs' dystrophy in the Indian population

FEBS Open Bio, EarlyView.
This study reports the upregulation of ELMO1 and GPR141 in human Fuchs' endothelial corneal dystrophy (FECD) corneal endothelium and ultraviolet A‐induced FECD mice model. A genetic association of an intergenic single nucleotide polymorphism rs918980 present between both genes is observed with FECD in the Indian population.
Susmita Sharma, Samar Kumar Basak, Sujata Das, Debasmita Pankaj Alone   +3 more
wiley   +1 more source

Langerhans cell histiocytosis of the orbit: A study of eight cases

Oman Journal of Ophthalmology, 2018
BACKGROUND: Langerhans cell histiocytosis (LCH) of the orbit is a rare clinical entity with a diagnostic and therapeutic dilemma. MATERIALS AND METHODS: This was a retrospective study of eight patients with orbital LCH. RESULTS: All eight patients in our
Swati Singh, Swathi Kaliki, Vijay Anandz Reddy Palkonda, Reddy Palkonda, Milind N Naik   +4 more
doaj   +1 more source