Results 61 to 70 of about 915 (192)

Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023)

American Journal of Medical Genetics Part A, Volume 194, Issue 10, October 2024.
Abstract Myhre syndrome is an increasingly diagnosed ultrarare condition caused by recurrent germline autosomal dominant de novo variants in SMAD4. Detailed multispecialty evaluations performed at the Massachusetts General Hospital (MGH) Myhre Syndrome Clinic (2016–2023) and by collaborating specialists have facilitated deep phenotyping, genotyping and
Angela E. Lin, Eleanor R. Scimone, Robyn P. Thom, Duraisamy Balaguru, T. Bernard Kinane, Peter P. Moschovis, Michael S. Cohen, Weizhen Tan, Cole D. Hague, Katelyn Dannheim, Lynne L. Levitsky, Evelyn Lilly, Daniel V. DiGiacomo, Kara M. Masse, Sarah M. Kadzielski, Claire A. Zar‐Kessler, Leo C. Ginns, Ann M. Neumeyer, Mary K. Colvin, Jack S. Elder, Christopher P. Learn, Hongmei Mou, Kathryn M. Weagle, Karen A. Buch, William E. Butler, Kenda Alhadid, Patricia L. Musolino, Sadia Sultana, Dhrubajyoti Bandyopadhyay, Otto Rapalino, Zachary S. Peacock, Elizabeth L. Chou, Gena Heidary, Aaron T. Dorfman, Shaine A. Morris, James D. Bergin, Jonathan H. Rayment, Lisa A. Schimmenti, Mark E. Lindsay, MGH Myhre Syndrome Study Group, Luisa Paredes Acosta, Jennifer A. Bassetti, Sarah Bowdin, Joy A. Bress, Joseph A. Camarda, Joanne S. Chiu, C. Eduardo Corrales, Gregory Costain, Mary Beth P. Dinulos, Rajiv Devanagondi, Emily S. Doherty, John Dykes, Ann‐Christine Duhaime, Robert F. English, Elizabeth Fieg, Nora D. B. Friedman, Carl P. Garabedian, Samantha Glowacki, Barbara R. Gottlieb, Mary Hope Griffin, Frances J. Hayes, Stephanie R. Hicks, Alicia M. Hinze, Brigette A. Jason, Joel Krier, Kristen Lindgren, Michael Lyons, Adnan Majid, Hannah C. Mannem, Marie McDonald, Vinod Misra, Amy Morgan, Barbara J. Nath, Michele Ploutz, Eloise J. Prijoles, Margaret B. Pulsifer, Alicia M. Quesnel, Farrah Rajabi, Mersedeh Rohanizadegan, Ana Maria Rosales, Holly Rothermel, Edith Schussler, Elizabeth A. Sellars, Joseph Shieh, Stephanie Sherrill, Heidi Taska‐Tench, Matthew Thompson, George E. Tiller, Stephanie E. Vallee, David Viskochil, Stephanie Ware, Rachel C. Whooten, Samuel Yang, Elaine H. Zackai, Dala Zakaria   +94 more
wiley   +1 more source

Role of ultrasonographic optic nerve sheath diameter in the diagnosis and follow-up of papilledema and its correlation with Frisén's severity grading

Indian Journal of Ophthalmology, 2019
Purpose: The aim of this study was to compare the ultrasonographic optic nerve sheath diameter (ONSD) in different grades of papilledema and in controls and to evaluate ONSD in atrophic papilledema/optic atrophy when raised ICP was suspected.
Nithya Raghunandan, Mary Joseph, Suneetha Nithyanandam, Shubhashree Karat   +3 more
doaj   +1 more source

Ophthaproblem. Pseudopapilledema.

Canadian family physician Medecin de famille canadien, 2002
Stephanie, Baxter, Sanjay, Sharma
openaire   +3 more sources

Squeeze-excitation half U-Net and synthetic minority oversampling technique oversampling for papilledema image classification [PDF]

The emergence of various convolutional neural networks (CNN) architectures indicates progress in the computer vision field. However, most of the architectures have large parameters, which tends to increase the computational cost of the training process ...
Syaifuddin, Angga Exca Pradipta, Wiharto, Wiharto   +1 more
core   +2 more sources

Further delineation of phenotype and genotype of Kenny–Caffey syndrome type 2 (phenotype and genotype of KCS type 2)

Molecular Genetics &Genomic Medicine, Volume 12, Issue 4, April 2024.
We provided detailed characteristics of eight individuals with genetically confirmed KCS2, which has been the largest cohort of KCS2 so far in China. We present the first genetically confirmed instance of father‐to‐daughter transmission of KCS2, which demonstrates an equal sex ratio of affected individuals.
Xuefei Chen, Chaochun Zou
wiley   +1 more source

Prevalence of optic disc drusen: A systematic review, meta‐analysis and forecasting study

Acta Ophthalmologica, Volume 102, Issue 1, Page 15-24, February 2024.
Abstract Optic disc drusen (ODD) are calcium‐containing deposits in the optic nerve head, capable of causing visual field defects and sudden visual loss. The underlying pathophysiology remains inadequately understood and treatment options are missing.
Hiwa Mukriyani, Lasse Malmqvist, Yousif Subhi, Steffen Hamann   +3 more
wiley   +1 more source

Transorbital sonography in idiopathic intracranial hypertension: Single‐center study, systematic review and meta‐analysis

Journal of Neuroimaging, Volume 34, Issue 1, Page 108-119, January/February 2024.
Abstract Background and Purpose Transorbital sonography (TOS) provides a noninvasive tool to detect intracranial pressure by assessing optic nerve sheath diameter (ONSD) and optic disc elevation (ODE). The utility of TOS in the diagnosis of idiopathic intracranial hypertension (IIH) has been increasingly recognized. Methods A single‐center case‐control
Eleni Bakola, Lina Palaiodimou, Andreas Eleftheriou, Katerina Foska, Anastasia Pikouli, Maria Stefanatou, Maria Chondrogianni, Georgios Velonakis, Elissavet Andreadou, Marianna Papadopoulou, Theodoros Karapanayiotides, Christos Krogias, Chrysa Arvaniti, Georgios Tsivgoulis   +13 more
wiley   +1 more source

Ocular manifestations of diabetes mellitus: a general overview [PDF]

, 2020
Introduction: Diabetes is on the rise – according to the World Health Organization (WHO) over 400 million people worldwide are affected. Elevated blood sugar levels pose a risk for the lives of these patients as well as a serious deterioration in their ...
Kostova, S., Levi, A., Oscar, A., Persenska, E., Zdravkov, Y.   +4 more
core   +2 more sources

Intracranial hypertension in syndromic craniosynostosis:Prevalence, detection, pathophysiology and treatment [PDF]

, 2023
This thesis highlights several aspects regarding the clinical course and treatment of syndromic craniosynostosis. First, we evaluate the prevalence of (syndromic) craniosynostosis: how many children are born with this rare condition in the Netherlands ...
den Ottelander, Bianca
core  

Trends and Clinical Characteristics of Pediatric Patients Presenting to an Ophthalmology Emergency Department with an Initial Diagnosis of Optic Nerve Head Elevation

Clinical Ophthalmology, 2022
Kara M Cavuoto, Zahra Markatia, Annika Patel, Carla J Osigian Department of Ophthalmology, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, FL, USACorrespondence: Kara M Cavuoto, Department of Ophthalmology, Bascom ...
Cavuoto KM, Markatia Z, Patel A, Osigian CJ   +3 more
doaj