Talk:Neural System - Abnormalities

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On this website the Discussion Tab or "talk pages" for a topic has been used for several purposes: References - recent and historic that relates to the topic Additional topic information - currently prepared in draft format Links - to related webpages Topic page - an edit history as used on other Wiki sites Lecture/Practical - student feedback Student Projects - online project discussions. Links: Pubmed Most Recent | Reference Tutorial | Journal Searches Glossary Links Glossary: A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z | Numbers | Symbols | Term Link Cite this page: Hill, M.A. (2026, September 14) Embryology Neural System - Abnormalities. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Talk:Neural_System_-_Abnormalities

2011

Congenital hydrocephalus associated with myeloschisis

Childs Nerv Syst. 2011 Oct;27(10):1585-8. Epub 2011 Sep 17.

Jeelani Y, McComb JG. Source Division of Neurosurgery, Children's Hospital Los Angeles, Department of Neurological Surgery, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA. Abstract BACKGROUND: Neural tube defects (NTDs) can be divided into two main groups, one being open NTDs wherein visible neural tissue and cerebrospinal fluid leakage are present and the other, closed NTDs without exposed neural tissue and no drainage of CSF. METHODS: This communication is devoted to open NTDs that can be further subdivided into myelomeningoceles, myeloschisis, and hemimyelomeningoceles. RESULTS: Common to all these is the loss of CSF during fetal development that leads to an extensive malformation of the central nervous system with hydrocephalus being a frequent feature. CONCLUSION: The only known difference between a newborn with myelomeningocele versus a newborn with myeloschisis is the initial presence (myelomeningocele) or absence (myeloschisis) of a cystic component with the overall clinical picture the same for these two forms of open neural tube defects. PMID 21928024

Myelomeningocele (open spina bifida) - surgical management

Adv Tech Stand Neurosurg. 2011;37:113-41. Akalan N. Source Department of Neurosurgery, Hacettepe University School of Medicine, Ankara, Turkey.

Abstract

Myelomeningocele has been recognized since ancient times although written descriptions began not before the 17th century. Among all serious congenital malformations, myelomeningocele is unique that is has a steady and considerable prevalence while being compatible with life. It has a dismal prognosis when left untreated where virtually all die within the first year while aggressive treatment have a profound effect on survival and quality of life. Effective surgical treatment became possible parallel to the treatment of hydrocephalus in the late 1950s. Advent of the shunt systems undoubtedly changed the morbidity and mortality rates due to associated hydrocephalus. Aggressive and effective treatment improved survival rates but also those suffering physical and mental disabilities have increased as well. Ethical and socioeconomic concerns have led to proposal for selective treatment criteria which have raised arguments on medical and ethico-legal rounds. After the swing of the pendulum between early treatment in all affected children and selective treatment of those who fulfilled the criteria for good prognosis, early myelomeningocele repair is practiced widely unless the infant is critically ill.Incidence of myelomeningocele has been decreasing especially in the Western world, partly due to prenatal diagnosis and elective terminations, dietary folate supplementation. Still, it is the most common central nervous system malformation and one of the leading causes of paraplegia, worldwide. Unfortunately, gains in the management of myelomeningocele have been mainly on antenatal diagnosis and prevention while efforts on understanding its cause, mechanisms involved are still tentative. Concerning the surgical management, no revolutionary modification improving outcome has been introduced unlike other fields of neurosurgery.Medical management of a child with myelomeningocele requires a lifelong effort of several disciplines including urology, orthopedics physical and social therapy besides neurosurgery. The initial and probably the most crucial step begin with proper repair of the lesion. The aim of surgery, with its simplest definition should be towards maintaining the medical condition of the newborn. In other words, consequences of an open spinal cord segment with associated malformations have to be avoided with appropriate measures. Comparable to the surgical treatment of any congenital malformation, myelomeningocele repair consist of reversing the failed steps of normal neural tube closure. This requires a thorough understanding of the normal and abnormal embryological sequence of events in formation of the spinal cord. Although the purpose of this chapter is to describe the basic concepts and technique of myelomeningocele repair, contemporary information and progress on epidemiology, and etiology and embryology is presented with discussion of controversial issues regarding the selection process, optimal time for surgery and technical modifications.

PMID 21997743

A randomized trial of prenatal versus postnatal repair of myelomeningocele

N Engl J Med. 2011 Mar 17;364(11):993-1004. Epub 2011 Feb 9.

Adzick NS, Thom EA, Spong CY, Brock JW 3rd, Burrows PK, Johnson MP, Howell LJ, Farrell JA, Dabrowiak ME, Sutton LN, Gupta N, Tulipan NB, D'Alton ME, Farmer DL; MOMS Investigators. Collaborators (91)

Source Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA. adzick@email.chop.edu

Abstract

BACKGROUND: Prenatal repair of myelomeningocele, the most common form of spina bifida, may result in better neurologic function than repair deferred until after delivery. We compared outcomes of in utero repair with standard postnatal repair.

METHODS: We randomly assigned eligible women to undergo either prenatal surgery before 26 weeks of gestation or standard postnatal repair. One primary outcome was a composite of fetal or neonatal death or the need for placement of a cerebrospinal fluid shunt by the age of 12 months. Another primary outcome at 30 months was a composite of mental development and motor function.

RESULTS: The trial was stopped for efficacy of prenatal surgery after the recruitment of 183 of a planned 200 patients. This report is based on results in 158 patients whose children were evaluated at 12 months. The first primary outcome occurred in 68% of the infants in the prenatal-surgery group and in 98% of those in the postnatal-surgery group (relative risk, 0.70; 97.7% confidence interval [CI], 0.58 to 0.84; P<0.001). Actual rates of shunt placement were 40% in the prenatal-surgery group and 82% in the postnatal-surgery group (relative risk, 0.48; 97.7% CI, 0.36 to 0.64; P<0.001). Prenatal surgery also resulted in improvement in the composite score for mental development and motor function at 30 months (P=0.007) and in improvement in several secondary outcomes, including hindbrain herniation by 12 months and ambulation by 30 months. However, prenatal surgery was associated with an increased risk of preterm delivery and uterine dehiscence at delivery.

CONCLUSIONS: Prenatal surgery for myelomeningocele reduced the need for shunting and improved motor outcomes at 30 months but was associated with maternal and fetal risks. (Funded by the National Institutes of Health; ClinicalTrials.gov number, NCT00060606.).

Comment in N Engl J Med. 2011 Jun 30;364(26):2555; author reply 2556. N Engl J Med. 2011 Jun 30;364(26):2554-5; author reply 2556. N Engl J Med. 2011 Jun 30;364(26):2555; author reply 2556. N Engl J Med. 2011 Mar 17;364(11):1076-7.

PMID 21306277

http://www.nejm.org/doi/full/10.1056/NEJMoa1014379

2010

Regulators of the proteasome pathway, Uch37 and Rpn13, play distinct roles in mouse development

PLoS One. 2010 Oct 27;5(10):e13654.

Al-Shami A, Jhaver KG, Vogel P, Wilkins C, Humphries J, Davis JJ, Xu N, Potter DG, Gerhardt B, Mullinax R, Shirley CR, Anderson SJ, Oravecz T.

Lexicon Pharmaceuticals, Inc, The Woodlands, Texas, United States of America. aalshami@lexpharma.com

Abstract Rpn13 is a novel mammalian proteasomal receptor that has recently been identified as an amplification target in ovarian cancer. It can interact with ubiquitin and activate the deubiquitinating enzyme Uch37 at the 26S proteasome. Since neither Rpn13 nor Uch37 is an integral proteasomal subunit, we explored whether either protein is essential for mammalian development and survival. Deletion of Uch37 resulted in prenatal lethality in mice associated with severe defect in embryonic brain development. In contrast, the majority of Rpn13-deficient mice survived to adulthood, although they were smaller at birth and fewer in number than wild-type littermates. Absence of Rpn13 produced tissue-specific effects on proteasomal function: increased proteasome activity in adrenal gland and lymphoid organs, and decreased activity in testes and brain. Adult Rpn13(-/-) mice reached normal body weight but had increased body fat content and were infertile due to defective gametogenesis. Additionally, Rpn13(-/-) mice showed increased T-cell numbers, resembling growth hormone-mediated effects. Indeed, serum growth hormone and follicular stimulating hormone levels were significantly increased in Rpn13(-/-) mice, while growth hormone receptor expression was reduced in the testes. In conclusion, this is the first report characterizing the physiological roles of Uch37 and Rpn13 in murine development and implicating a non-ATPase proteasomal protein, Rpn13, in the process of gametogenesis.

PMID: 21048919

2007

Scanning electron microscopy of fetal murine myelomeningocele reveals growth and development of the spinal cord in early gestation and neural tissue destruction around birth

J Pediatr Surg. 2007 Sep;42(9):1561-5.

Stiefel D, Meuli M.

Neural Development Unit, Institute of Child Health, University College London, London, WC1N 1EH United Kingdom. Abstract BACKGROUND: Previous studies demonstrated that the spinal cord within a fetal myelomeningocele (MMC) lesion suffers progressive destruction during gestation. This study aims at elucidating this pathophysiologic feature on a cellular and ultrastructural level in a model of genetically determined MMC.

METHODS: Curly tail/loop tail mouse fetuses at various gestational stages and neonates were analyzed electron-microscopically to document time-point and nature of neural tissue development and pathologic alterations within the MMC.

RESULTS: At embryonic day (E) 8.5 and E9.5, round cells displaying multiple microvilli covered the entire region of interest, and some specimens showed initial stages of neurulation. At E10.5, neurulation was terminated in normal animals, whereas the neural placode remained unfolded in MMC fetuses and became distinguishable from adjacent epidermal layers. At E15.5, an apparently normal differentiation was found. Until this time-point, there was no tissue damage or inflammation. Thereafter, increasingly severe tissue alterations were identified with ongoing gestation leading to almost complete loss of neural tissue at birth.

CONCLUSION: We show here in fetal mice with MMC that, apart from absent neurulation, growth and development of the otherwise perfectly intact exposed spinal cord appear normal in early gestation, whereas later, the unprotected neural tissue is progressively destroyed.

PMID: 17848249

Neonatal Brain US by Erik Beek and Floris Groenendaal

ultrasound scans of head region http://www.radiologyassistant.nl/en/440c93be7456f

Preconceptional Folate Supplementation and the Risk of Spontaneous Preterm Birth: A Cohort Study

http://www.plosmedicine.org/article/info:doi/10.1371/journal.pmed.1000061

"Preconceptional folate supplementation is associated with a 50%–70% reduction in the incidence of early spontaneous preterm birth. The risk of early spontaneous preterm birth is inversely proportional to the duration of preconceptional folate supplementation. Preconceptional folate supplementation was specifically related to early spontaneous preterm birth and not associated with other complications of pregnancy."

http://en.wikipedia.org/wiki/File:Encephalocele_of_a_newborn.JPG

<pubmed>19788802</pubmed>

An unusual case of duplication of the spinal canal

Rev Med Brux. 2007 Mar-Apr;28(2):119-22.

(Article in French)

Ranguelov N, Sourtzis S, Delpierre I, Christophe C, Louryan S.

Service de Pédiatrie, C.H.U. de Charleroi. Abstract We describe here a very rare congenital malformation, in which the vertebra Th 9 to 11 were divided into independent bodies and neural arches. The vertebral canal contained the spinal cord, whereas the space between bodies and arches was filled by nerve roots and a central remnant cord, not clearly connected to the main spinal cord. This malformation was considered as related to a fetal alcohol syndrome, with craniofacial and genitourinary abnormalities. The authors analyze, moreover the possible role of abnormal Sonic Hedgehog gene patterning in the pathogeny of this complex malformative sequence.

PMID: 17561726

Maternal serum alpha-fetoprotein levels in fetal hydrocephalus: a retrospective population based study

http://www.biomedcentral.com/1471-2393/6/23