Talk:Neural Crest System - Abnormalities
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Cite this page: Hill, M.A. (2019, September 17) Embryology Neural Crest System - Abnormalities. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Talk:Neural_Crest_System_-_Abnormalities
Progress in the study of syndromic hearing loss resulted from neural crest abnormalities
Yi Chuan. 2014 Nov;36(11):1131-44. doi: 10.3724/SP.J.1005.2014.1131.
Article in Chinese
Yalan L1, Hua Z2, Yong F3.
More than 400 types of syndromic hearing loss (SHL) have been reported so far, in which Waardenburg syndrome (WS), congenital microtia syndrome (CMS), and large vestibular aqueduct syndrome (LVAS) are the most common ones in clinic. However, it is difficult to study the genetic basis and pathogenesis of SHL in a systematical way because of the strong clinical and genetic heterogeneity of SHL. Dysfunction of neural crest cells (NCC), which are caused by the gene interaction network extended from SOX10 and PAX3, are relevant to the phenotype of WS, CMS and LVAS. Our previous study also confirmed that the gene network was involved in the pathogenesis of WS. In this review, we summarize research progress in the pathogenic mechanisms of SHL resulted from defects in neural crest decelopment, and provide the gene interaction network of neural crest abnormalities resulting in SHL, and hope to provide research ideas and theoretical basis for the systematical study on pathogenesis of common SHL.
Congenital aganglionic megacolon in Nigerian adults: two case reports and review of the literature
Niger J Clin Pract. 2011 Apr-Jun;14(2):249-52.
Bakari AA, Gali BM, Ibrahim AG, Nggada HA, Ali N, Dogo D, Abubakar AM. Source Department of Surgery, College of Medical Sciences, University of Maiduguri, Nigeria. email@example.com Abstract Congenital aganglionic mega colon (Hirschsprung's disease) is a motor disorder in the gut, due to a defect in the craniocaudal migration of the neuroblast originating from the neural crest that occurs during the first twelve weeks of gestation, causing a functional intestinal obstruction, with its attendant complications, in infants. Despite modern pediatric practice, with emphasis on early diagnosis, Hirschsprung's disease is seen in adults in regions where perinatal care is limited. We report two cases of Nigerian adults with longstanding, recurrent constipation, getting relieved by laxatives and herbal enemata, and then presented to our Emergency Department with a history of progressive abdominal distention, colicky pain, occasional vomiting, and weight loss. Per rectal examination revealed a gripping sensation in the rectum, 10 cm from the anal verge, with rectal fecal load. Barium enema showed a grossly distended proximal large colon, with high fecal retention, with the transition zone at the middle one-third of the rectum. Due to difficulty in bowel preparation of these patients, emergency laparotomy was done. The first case had a diverting sigmoid colostomy and later had a low anterior resection. The second case had a one-stage procedure. Histology of both the cases showed aganglionosis of the stenotic segment and a normal distal rectum. Both patients had complete resolution of the symptoms, without complications, in a three-year follow-up. The related literatures were reviewed. Hirschsprung's disease should be considered in adults patient presenting with chronic constipation. Low anterior resection of the rectum would be a surgical option for the treatment of short and zonal segment of adult Hirschsprung's disease. PMID 21860150
Hedgehog/Notch-induced premature gliogenesis represents a new disease mechanism for Hirschsprung disease in mice and humans
J Clin Invest. 2011 Aug 15. pii: 43737. doi: 10.1172/JCI43737. [Epub ahead of print]
Ngan ES, Garcia-Barceló MM, Yip BH, Poon HC, Lau ST, Kwok CK, Sat E, Sham MH, Wong KK, Wainwright BJ, Cherny SS, Hui CC, Sham PC, Lui VC, Tam PK.
Hirschsprung (HSCR) disease is a complex genetic disorder attributed to a failure of the enteric neural crest cells (ENCCs) to form ganglia in the hindgut. Hedgehog and Notch are implicated in mediating proliferation and differentiation of ENCCs. Nevertheless, how these signaling molecules may interact to mediate gut colonization by ENCCs and contribute to a primary etiology for HSCR are not known. Here, we report our pathway-based epistasis analysis of data generated by a genome-wide association study on HSCR disease, which indicates that specific genotype constellations of Patched (PTCH1) (which encodes a receptor for Hedgehog) and delta-like 3 (DLL3) (which encodes a receptor for Notch) SNPs confer higher risk to HSCR. Importantly, deletion of Ptch1 in mouse ENCCs induced robust Dll1 expression and activation of the Notch pathway, leading to premature gliogenesis and reduction of ENCC progenitors in mutant bowels. Dll1 integrated Hedgehog and Notch pathways to coordinate neuronal and glial cell differentiation during enteric nervous system development. In addition, Hedgehog-mediated gliogenesis was found to be highly conserved, such that Hedgehog was consistently able to promote gliogenesis of human neural crest-related precursors. Collectively, we defined PTCH1 and DLL3 as HSCR susceptibility genes and suggest that Hedgehog/Notch-induced premature gliogenesis may represent a new disease mechanism for HSCR.
From the archives of the AFIP: a comprehensive review of fetal tumors with pathologic correlation
Radiographics. 2005 Jan-Feb;25(1):215-42.
Woodward PJ, Sohaey R, Kennedy A, Koeller KK.
Department of Radiologic Pathology, Armed Forces Institute of Pathology, Bldg 54, Rm M-121, 14th and Alaska Ave NW, Washington, DC 20306-6000, USA. firstname.lastname@example.org Abstract Fetal tumors are a diverse group of neoplasms, which are unique in their histologic characteristics, anatomic distribution, and pathophysiology. The biologic behavior of tumors in the fetus may differ dramatically compared with that of the same tumor detected later in life. Teratomas are the dominant histologic type and constitute the majority of both extracranial and intracranial neoplasms. Although often histologically mature, they may prove lethal because of their location and metabolic demands on the fetus. Large solid tumors may lead to cardiovascular compromise and hydrops fetalis. Extracranial teratomas are most commonly located in the sacrococcygeal area, followed by the head and neck, chest, and retroperitoneum. Fetuses with intracranial tumors have a poor prognosis regardless of histologic type. There are, however, two notable exceptions: lipomas and choroid plexus papillomas, both of which have a more favorable outcome. Neuroblastoma is the most common fetal malignancy. It may be either solid or cystic and is more often located on the right side. It typically has favorable biologic markers and stage at presentation. The prognosis for prenatally diagnosed cases is excellent. Other fetal neoplasms include soft-tissue tumors (both benign and malignant), leukemia, mesenchymal hamartoma of the kidney, and liver tumors (hemangioendothelioma, mesenchymal hamartoma, and hepatoblastoma).
PMID: 15653597 http://www.ncbi.nlm.nih.gov/pubmed/15653597