Results 101 to 110 of about 8,662 (264)

Ectodermal dysplasias: Classification and organization by phenotype, genotype and molecular pathway [PDF]

, 2019
An international advisory group met at the National Institutes of Health in Bethesda, Maryland in 2017, to discuss a new classification system for the ectodermal dysplasias (EDs) that would integrate both clinical and molecular information.
Abbott, Becky, Bergendal, Birgitta, Butcher, Clayton, Clarke, Angus J., D'Souza, Rena N., Fete, Mary, Fete, Timothy, Hadj-Rabia, Smail, Koster, Maranke I., Morasso, Maria I., Pagnan, Nina, Schneider, Holm, Stanford, Clark, Sybert, Virginia P., Tadini, Gianluca, Visinoni, Atila F., Wright, John Timothy, Zinser, Madelaine   +17 more
core   +2 more sources

Genetic Testing Utilization in the U.S. Registry for Childhood Interstitial and Diffuse Lung Diseases

Pediatric Pulmonology, Volume 60, Issue 4, April 2025.
ABSTRACT Introduction Childhood interstitial and diffuse lung diseases (chILD) comprise a diverse group of rare disorders. Identifying the underlying cause is crucial for treatment, prognosis, and estimating recurrence risk. The objective of this study was to assess the utilization of genetic testing for subjects enrolled in the United States National ...
Laura A. Voss, Rebekah J. Nevel, Jennifer A. Wambach, Lawrence M. Nogee, Robin R. Deterding, Alicia M. Casey, Michael G. O'Connor, Daniel I. Craven, Jane B. Taylor, Gail H. Deutsch, Jade B. Tam‐Williams, Lea C. Steffes, Steven K. Brennan, Maria T. Santiago, Sara C. Sadreameli, Andrea F. Heras, Michael R. Powers, Antonia P. Popova, Manvi Bansal, Aaron Hamvas, William A. Gower, Fernando Urrego, Lisa R. Young, for The ChILD Registry Collaborative   +23 more
wiley   +1 more source

A Pathology-Based Machine Learning Method to Assist in Epithelial Dysplasia Diagnosis [PDF]

arXiv, 2022
The Epithelial Dysplasia (ED) is a tissue alteration commonly present in lesions preceding oral cancer, being its presence one of the most important factors in the progression toward carcinoma. This study proposes a method to design a low computational cost classification system to support the detection of dysplastic epithelia, contributing to reduce ...
arxiv  

Undulation Instability of Epithelial Tissues [PDF]

Phys. Rev. Lett. 106, 158101 (2011), 2011
Treating the epithelium as an incompressible fluid adjacent to a viscoelastic stroma, we find a novel hydrodynamic instability that leads to the formation of protrusions of the epithelium into the stroma. This instability is a candidate for epithelial fingering observed in vivo.
arxiv   +1 more source

Treatment with removable prosthesis in hypohidrotic ectodermal dysplasia : a clinical case [PDF]

, 2008
Ectodermal dysplasias form part of a wide range of syndromes presenting abnormal development of two or more tissues derived from the ectoderm. Hypohidrotic ectodermal dysplasia is a congenital syndrome, characterized by hypotrichosis (hair is sparse ...
Blanco-Moreno Alvarez-Buylla, Fernando, González García, Manuel, López-Arranz Monje, E., Martínez Fernández, Miguel, Pipa Vallejo, Adolfo   +4 more
core  

Hypohidrotic hereditary ectodermal dysplasia: A case report

IP International Journal of Medical Paediatrics and Oncology, 2023
Hypohidrotic Ectodermal Dysplasia (HED) is characterized by a triad of hypotrichosis (sparse hair), hypodontia (multiple missing teeth), and hypohidrosis (inability to sweat adequately). Consequently, patients’ quality of life is severely affected due to
S. Sachdev, Dimple Padawe, Ankita Khade, Vilas Takate, Kishor Dighe   +4 more
semanticscholar   +1 more source

Large Language Models for Granularized Barrett's Esophagus Diagnosis Classification [PDF]

arXiv, 2023
Diagnostic codes for Barrett's esophagus (BE), a precursor to esophageal cancer, lack granularity and precision for many research or clinical use cases. Laborious manual chart review is required to extract key diagnostic phenotypes from BE pathology reports. We developed a generalizable transformer-based method to automate data extraction.
arxiv  

HED (Hypohidrotic Ectodermal Dysplasia):A Review [PDF]

, 2021
The ectodermal dysplasias (EDs) are a heterogeneous group of inherited, developmental disorders characterized by alterations in two or more ectodermal structures including the hair, teeth, nails and sweat glands.
Bashyam, Murali Dharan, Callea, Michele, Dogan, Mehmet Sinan, Scalisi, Francisco Cammarata, Willoughby, Colin Eric, Yavuz, Izzet   +5 more
core  

Associations and outcomes of prenatally detected rhombencephalosynapsis

Prenatal Diagnosis, Volume 44, Issue 10, Page 1159-1169, September 2024.
Abstract Objective To describe the association between prenatal imaging and neurodevelopmental outcomes of fetuses with rhombencephalosynapsis (RES). Study design Thirty‐four pregnancies complicated by RES were identified from our institutional databases based on US and/or MRI findings. Genetic testing results were gathered.
Yada Kunpalin, Elka Miller, Kamini Raghuram, Patrick Shannon, Yael Fisher, Vann Chau, Ants Toi, David Chitayat, Susan Blaser, Shiri Shinar   +9 more
wiley   +1 more source

Molecular aspects of hypohidrotic ectodermal dysplasia [PDF]

American Journal of Medical Genetics Part A, 2009
AbstractHypohidrotic (anhidrotic) ectodermal dysplasia (HED) is a congenital syndrome characterized by sparse hair, oligodontia, and reduced sweating. It is caused by mutations in any of the three Eda pathway genes: ectodysplasin (Eda), Edar, and Edaradd which encode a ligand, a receptor, and an intracellular signal mediator of a single linear pathway,
openaire   +3 more sources