Results 121 to 130 of about 8,662 (264)

Infant hip screening using multi-class ultrasound scan segmentation [PDF]

open access: yesarXiv, 2022
Developmental dysplasia of the hip (DDH) is a condition in infants where the femoral head is incorrectly located in the hip joint. We propose a deep learning algorithm for segmenting key structures within ultrasound images, employing this to calculate Femoral Head Coverage (FHC) and provide a screening diagnosis for DDH.
arxiv  

Hereditary Ectodermal Dysplasia in Two Identical Siblings

open access: yesActa Medica Bulgarica
Primary defects in two or more ectodermally-derived tissues during embryonic development characterize ectodermal dysplasia, a vast, varied group of inherited illnesses. Skin, hair, nails, eccrine glands, and teeth are the primary tissues affected.
Sarkar A. S., Rao K., Ajila V.
doaj   +1 more source

A case report of hypohidrotic ectodermal dysplasia: A mini-review with latest updates

open access: yesJournal of Family Medicine and Primary Care, 2018
Ectodermal dysplasia (ED) is a rare hereditary disorder involving two or more of the ectodermal structures, which include the skin, hair, nails, teeth, and sweat glands. The two most common forms of the disease are hypohidrotic/anhidrotic ED and hidrotic
Girish Gulab Meshram   +2 more
doaj   +1 more source

Genetic basis of dental agenesis - molecular genetics patterning clinical dentistry [PDF]

open access: yes, 2013
Tooth agenesis is one of the most common congenital malformations in humans. Hypodontia can either occur as an isolated condition (non-syndromic hypodontia) or can be associated with a syndrome (syndromic hypodontia), highlighting the heterogeneity of ...
Chhabra, Anuj   +2 more
core   +1 more source

Biologics for inherited disorders of keratinisation: A systematic review

open access: yesAustralasian Journal of Dermatology, Volume 65, Issue 2, Page 185-214, March 2024.
Abstract Background/Objectives Recent literature highlights the potential of biologics in the management of inherited disorders of keratinisation. In this study, we conducted a systematic review of existing literature on treatment outcomes of inherited keratinisation disorders treated with biologics.
Michelle K. Y. Chen   +3 more
wiley   +1 more source

Semi-Supervised Cervical Dysplasia Classification With Learnable Graph Convolutional Network [PDF]

open access: yesarXiv, 2020
Cervical cancer is the second most prevalent cancer affecting women today. As the early detection of cervical carcinoma relies heavily upon screening and pre-clinical testing, digital cervicography has great potential as a primary or auxiliary screening tool, especially in low-resource regions due to its low cost and easy access.
arxiv  

Simultaneous Nuclear Instance and Layer Segmentation in Oral Epithelial Dysplasia [PDF]

open access: yesarXiv, 2021
Oral epithelial dysplasia (OED) is a pre-malignant histopathological diagnosis given to lesions of the oral cavity. Predicting OED grade or whether a case will transition to malignancy is critical for early detection and appropriate treatment. OED typically begins in the lower third of the epithelium before progressing upwards with grade severity, thus
arxiv  

Edar Signaling in the Control of Hair Follicle Development [PDF]

open access: yes, 2005
Ectodysplasin receptor Edar and its ligand Eda A1, as well as their related receptor Xedar and ligand Eda A2, are recently discovered members of the tumor necrosis factor superfamily that signal predominantly through the nuclear factor-κB and c-jun N ...
Botchkarev, Vladimir A.   +1 more
core   +1 more source

Fetal gene therapy

open access: yesJournal of Inherited Metabolic Disease, Volume 47, Issue 1, Page 192-210, January 2024.
Abstract Fetal gene therapy was first proposed toward the end of the 1990s when the field of gene therapy was, to quote the Gartner hype cycle, at its “peak of inflated expectations.” Gene therapy was still an immature field but over the ensuing decade, it matured and is now a clinical and market reality. The trajectory of treatment for several genetic
Simon N. Waddington   +7 more
wiley   +1 more source

Deep Learning-Based Automatic Diagnosis System for Developmental Dysplasia of the Hip [PDF]

open access: yesarXiv, 2022
Objective: The clinical diagnosis of developmental dysplasia of the hip (DDH) typically involves manually measuring key radiological angles -- Center-Edge (CE), Tonnis, and Sharp angles -- from pelvic radiographs, a process that is time-consuming and susceptible to variability.
arxiv  

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