Results 31 to 40 of about 9,936 (230)
Pathogenesis of ectodermal dysplasia [PDF]
Head & Face Medicine, 2012 Ectodermal dysplasias (ED) are characterized by impaired development of organs forming from the embryonic surface ectoderm. Thus, in ED organs like teeth, hair, nails and exocrine glands are hypoplastic or totally missing. The pathogenesis of the defects is starting to be understood thanks to the identification of the responsible gene mutations, and to
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Ocular manifestations of ectodermal dysplasia [PDF]
Orphanet Journal of Rare Diseases, 2021 Abstract Purpose The ectodermal dysplasias (EDs) constitute a group of disorders characterized by abnormalities in two or more ectodermal derivatives, including skin, hair, teeth, and sweat glands. The purpose of the current study was to evaluate ocular manifestations in pediatric patients with ED.
James A. Katowitz +4 more
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Hypohidrotic ectodermal dysplasia
Dermatology Online Journal, 2008 We report three children with hypohidrotic ectodermal dysplasia (HED), which includes two sisters with unaffected parents (and therefore likely autosomal recessive inheritance of HED) and an unrelated boy. Each patient presented with hypohidrosis, sparse hair, oligodontia with conical teeth, periorbital hyperpigmentation, eczematous dermatitis, and ...
Lu, Phoebe D, Schaffer, Julie V
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Ectodermal Dysplasias Revisited [PDF]
Acta geneticae medicae et gemellologiae, 1977 This paper presents a historical view of the development of the concept of ectodermal dysplasia, analyses five current “definitions” of the group, and classifies 52-57 ectodermal dysplasias into subgroups on the basis of criteria developed by the Author.
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Digit patterning during limb development as a result of the BMP-receptor interaction [PDF]
SCIENTIFIC REPORTS 2012 2 : 991, 2013 Turing models have been proposed to explain the emergence of digits during limb development. However, so far the molecular components that would give rise to Turing patterns are elusive. We have recently shown that a particular type of receptor-ligand interaction can give rise to Schnakenberg-type Turing patterns, which reproduce patterning during lung
arxiv +1 more source
Tethered capsule en face optical coherence tomography for imaging Barrett's esophagus in unsedated patients [PDF]
BMJ Open Gastroenterology (2020), 2020 Detection of Barrett's esophagus (BE) at points of care outside the endoscopy suite may improve screening access and reduce esophageal adenocarcinoma mortality. Tethered capsule optical coherence tomography (OCT) can volumetrically image esophageal mucosa and detect BE in unsedated patients.
arxiv +1 more source
Focal cortical dysplasia as a cause of epilepsy: the current evidence of associated genes and future therapeutic treatments [PDF]
arXiv, 2022 Focal cortical dysplasias (FCDs) are the most common cause of treatment resistant epilepsy affecting the pediatric population. Most individuals with FCD have seizure onset during the first five years of life and the majority will have seizures by the age of sixteen.
arxiv
Ophtalmologie p\'ediatrique : Rapport SFO 2017, Elsevier-Masson,
pp.739-756, 2017, 978-2-294-75022-9, 2017 In order to better understand the mechanisms underlying the physiology of vision, it is a necessary prerequisite to know the embryological bases of eye development and associated tissues. Eye formation starts during the fourth week of human embryonic life, when the ocular primordium can be distinguished from the lateral diverticula of the anterior ...
arxiv +1 more source
REHABILITASI PASIEN GIGI TIRUAN PENUH DENGAN EKTODERMAL DYSPLASIA (LAPORAN KASUS)
Journal of Dentistry Indonesia, 2015 Ectodermal dysplasia is a rare congenital disease that affects several ectodermal structures. This disease is usually transmitted as an x-linked recessive trait in which the gene is carried by female and manifested in male.
Susi R. Puspita Dewi
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Implant restoration of hypodontia resulting from ectodermal dysplasia: a case report
Journal of International Medical Research, 2021 Background Ectodermal dysplasia is a congenital genetic disorder with a prevalence of 1:10,000 to 1:100,000. The clinical features of ectodermal dysplasia include sparse hair, missing teeth, and abnormal development of the skin, sweat glands, and other ...
Qintian Zhu +3 more
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