China
Africa
Explore chapters and articles related to this topic
Familial Neuroblastoma
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
During embryonal development, the neural crest containing multipotent neural crest cells is formed in the dorsal part of the neural tube that will later become the brain and the spinal cord. With the ability to undergo epithelial-to-mesenchymal transition and migrate to various body locations, neural crest cells are committed to progressively restricted cell lineages, and eventually differentiate into a diversity of cell types, including the peripheral nervous system (neurons, glial cells, and Schwann cells), endocrine and paraendocrine cells, melanocytes in the epidermis, craniofacial cartilage, bone, and connective tissue [2].
New Aspects of Isotretinoin Teratogenicity
Published in Ayse Serap Karadag, Berna Aksoy, Lawrence Charles Parish, Retinoids in Dermatology, 2019
Initiation of craniofacial morphogenesis is marked by the appearance of the paired pharyngeal arches. The first pair is divided into mandibular and maxillary prominences, which together with the frontonasal prominence constitute the five facial primordia. The neural crest arises from the embryonic ectoderm and develops from the neural tube after its closure (11). The neural crest is a stem/progenitor cell population that contributes to a wide variety of derivatives, including sensory and autonomic ganglia, cartilage and bone of the face, and pigment cells of the skin (12). Cranial NCCs are stem cell-line cells, which delaminate from the dorsal edge of the developing brain and drive the budding of the five primordia (13–15). In NCCs, NCC-derived neuroblastoma cells as well as sebocytes, isotretinoin is intracellularly isomerized to all-trans-retinoic acid (ATRA) (4,8,16,17).
Embryology of the Spinal Cord, Peripheral Nerves, and Vertebrae
Published in Bernard J. Dalens, Jean-Pierre Monnet, Yves Harmand, Pediatric Regional Anesthesia, 2019
Bernard J. Dalens, Jean-Pierre Monnet, Yves Harmand
Further differentiation of the neural crests is represented by the rostral to caudal appearance of transversal clefts, resulting in the creation of one spinal ganglion per myotome (see Figure 1.9D). In addition to the above mentioned structures, the neural crests give rise to Sympathetic and parasympathetic gangliaSympathetic paraganglia, including the medulla of the adrenal glandsSome glial cells, such as Schwann cellsLeptomeningeal cellsPossibly, melanoblasts and skin melanocytes
Brugada syndrome
Published in Acta Cardiologica, 2021
Haarika Korlipara, Giridhar Korlipara, Srinivas Pentyala
Elizari et al. [28] proposed another mechanism behind the pathophysiology of BrS known as the neural crest hypothesis. Neural crest cells are found in extra-cardiac locations and play a fundamental role in the myocardial development of the RVOT as well as surrounding structures. Abnormal myocardialization caused by abnormal cardiac neural crest cell expression can lead to the repolarization heterogeneities underlying the phenotype of BrS. Furthermore, faster or slower migration of the cardiac neural crest cells has been demonstrated to be directly correlated with overexpression or under-expression of connexin43 (Cx43), a gap junction protein. The authors suggest that the abnormal migration of the neural crest cells would produce inhomogeneous transmural and regional Cx43 expression in the right ventricle, leading to the conduction slowing and delayed activation of the RVOT found in BrS.
An unusual ophthalmic presentation of Wolf-Hirschhorn syndrome
Published in Ophthalmic Genetics, 2021
Gökhan Çelik, Bilge Batu Oto, Osman Kızılay, Oğuzhan Kılıçarslan, Handan Hakyemez Toptan
Wolf-Hirschhorn Syndrome is developmental disorder characterized by craniofacial abnormalities, heart defects, skeletal and urogenital defects. The incidence of WHS is about 1/50.000–100.000 in live births and is twice more often in females (1). WHS is caused by deletion of the short arm of 4th chromosome. A recent study suggested neural crest motility and migration defects during development as a pathophysiology for WHS (2). Each patient presents with a unique combination of WHS characteristics, the severity of the phenotype in WHS depends on the extent of deletion area (3). Ophthalmic manifestations occur in approximately 40% of the patients (1). Refractive errors, epicanthus, hypertelorism, strabismus, ptosis, proptosis, colobomas of the eyelid and microphthalmia can be seen. Glaucoma, microcornea and iris coloboma can be observed. Foveal hypoplasia, colobomas of retina, choroid and optic nerve are the manifestations of posterior segment (4).
The Notch pathway: a novel therapeutic target for cardiovascular diseases?
Published in Expert Opinion on Therapeutic Targets, 2019
Giorgio Aquila, Aleksandra Kostina, Francesco Vieceli Dalla Sega, Eugeniy Shlyakhto, Anna Kostareva, Luisa Marracino, Roberto Ferrari, Paola Rizzo, Anna Malaschicheva
A recent study of a cohort of 428 patients with a spectrum of diseases affecting aortic development such as aortic valve stenosis, a bicuspid aortic valve, aortic valve insufficiency coarctation of the aorta, and hypoplastic left heart syndrome, subvalvular or supravalvular aortic stenosis, hypoplastic aortic arch, interruption of the aorta, and mitral valve anomalies clearly demonstrates that the phenotypic spectrum of NOTCH1 mutations includes a wide variety of pathologies affecting the whole conotruncus of the heart [45]. This is in agreement with the described role of the Notch pathway in determining the fate of neural crest–derived cells. Alagille syndrome (ALGS), a congenital disease that mainly affects liver ducts and heart development, in the vast majority (up to 96%) of patients, is caused by mutations in JAGGED1 and NOTCH2 (in 1–2% of the cases) [46].