scholarly journals Hypoglossal Nerve Abnormalities as Biomarkers for Central Nervous System Defects in Mouse Lines Producing Embryonically Lethal Offspring

2021 ◽  
Vol 15 ◽  
Author(s):  
Lukas F. Reissig ◽  
Atieh Seyedian Moghaddam ◽  
Fabrice Prin ◽  
Robert Wilson ◽  
Antonella Galli ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Developmental Disorders ◽  
Hypoglossal Nerve ◽  
Three Dimensional ◽  
Null Mutant ◽  
Full Spectrum ◽  
Mouse Mutants ◽  
Central Nervous System Defects ◽  
Mouse Lines

An essential step in researching human central nervous system (CNS) disorders is the search for appropriate mouse models that can be used to investigate both genetic and environmental factors underlying the etiology of such conditions. Identification of murine models relies upon detailed pre- and post-natal phenotyping since profound defects are not only the result of gross malformations but can be the result of small or subtle morphological abnormalities. The difficulties in identifying such defects are compounded by the finding that many mouse lines show quite a variable penetrance of phenotypes. As a result, without analysis of large numbers, such phenotypes are easily missed. Indeed for null mutations, around one-third have proved to be pre- or perinatally lethal, their analysis resting entirely upon phenotyping of accessible embryonic stages.To simplify the identification of potentially useful mouse mutants, we have conducted three-dimensional phenotype analysis of approximately 500 homozygous null mutant embryos, produced from targeting a variety of mouse genes and harvested at embryonic day 14.5 as part of the “Deciphering the Mechanisms of Developmental Disorders” www.dmdd.org.uk program. We have searched for anatomical features that have the potential to serve as biomarkers for CNS defects in such genetically modified lines. Our analysis identified two promising biomarker candidates. Hypoglossal nerve (HGN) abnormalities (absent, thin, and abnormal topology) and abnormal morphology or topology of head arteries are both frequently associated with the full spectrum of morphological CNS defects, ranging from exencephaly to more subtle defects such as abnormal nerve cell migration. Statistical analysis confirmed that HGN abnormalities (especially those scored absent or thin) indeed showed a significant correlation with CNS defect phenotypes. These results demonstrate that null mutant lines showing HGN abnormalities are also highly likely to produce CNS defects whose identification may be difficult as a result of morphological subtlety or low genetic penetrance.

Confocal laser microscopy of impregnated central nervous system tissue

1988 ◽  
Vol 46 ◽  
pp. 94-95
Author(s):  
J.N. Turner ◽  
M. Siemens ◽  
D. Szarowski ◽  
D.N. Collins
Keyword(s):  
Electron Microscopy ◽  
Central Nervous System ◽  
Nervous System ◽  
Three Dimensional ◽  
Dimensional Structure ◽  
Confocal Laser ◽  
High Contrast ◽  
Central Nervous System Tissue ◽  
Tissue Samples ◽  
Reflected Light

A classic preparation of central nervous system tissue (CNS) is the Golgi procedure popularized by Cajal. The method is partially specific as only a few cells are impregnated with silver chromate usualy after osmium post fixation. Samples are observable by light (LM) or electron microscopy (EM). However, the impregnation is often so dense that structures are masked in EM, and the osmium background may be undesirable in LM. Gold toning is used for a subtle but high contrast EM preparation, and osmium can be omitted for LM. We are investigating these preparations as part of a study to develop correlative LM and EM (particularly HVEM) methodologies in neurobiology. Confocal light microscopy is particularly useful as the impregnated cells have extensive three-dimensional structure in tissue samples from one to several hundred micrometers thick. Boyde has observed similar preparations in the tandem scanning reflected light microscope (TSRLM).

Virtual ultrasound embryo autopsy – myth or reality? Part 1

2017 ◽  
Author(s):  
A.Yu. Blinov
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Prenatal Diagnosis ◽  
Medical Imaging ◽  
Embryonic Development ◽  
Human Embryos ◽  
Review Of Literature ◽  
Embryonic Period ◽  
New Methods ◽  
Central Nervous System Defects

A review of literature data on the study of human embryos using new methods of medical imaging is given. The possibility of prenatal diagnosis of severe central nervous system defects has been demonstrated already in the embryonic period at 8–10 weeks of gestation or at the age of 16 to 23 stages of the embryonic development period

Three-dimensional sonographic features of fetal central nervous system anomaly

2000 ◽  
Vol 79 (8) ◽  
pp. 635-639 ◽  
Author(s):  
TOSHIYUKI HATA ◽  
TOSHIHIRO YANAGIHARA ◽  
MINAKO MATSUMOTO ◽  
UIKO HANAOKA ◽  
MARI UETA ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Three Dimensional ◽  
Central Nervous System Anomaly

Inflammatory Bowel Disease and Risk of Birth Defects in Offspring

2020 ◽  
Vol 14 (5) ◽  
pp. 588-594
Author(s):  
Nathalie Auger ◽  
Justin Côté-Daigneault ◽  
Marianne Bilodeau-Bertrand ◽  
Laura Arbour
Keyword(s):  
Ulcerative Colitis ◽  
Inflammatory Bowel Disease ◽  
Central Nervous System ◽  
Nervous System ◽  
Crohn’S Disease ◽  
Crohn's Disease ◽  
Birth Defects ◽  
Bowel Disease ◽  
Inflammatory Bowel ◽  
Central Nervous System Defects

Abstract Background and Aims The relationship between inflammatory bowel disease in pregnancy and birth defects is not understood. We evaluated whether Crohn’s disease and ulcerative colitis in pregnant women were associated with the risk of birth defects in the offspring. Methods We undertook a retrospective cohort study of 2 184 888 pregnancies in Quebec, Canada, between 1989 and 2016. We calculated risk ratios [RR] and 95% confidence intervals [CI] for the association between inflammatory bowel disease and the risk of birth defects, using generalised estimating equations adjusted for maternal characteristics. We assessed associations in the period before 2000, when immunosuppressive biologic therapy and folic acid food fortification were not yet available, compared with the period after 2000 when these interventions were more widespread. Results This study included 13 099 women with Crohn’s disease and 7798 with ulcerative colitis. Crohn’s disease was associated with 1.90 times [95% CI 1.10–3.28] the risk of abdominal wall defects [gastroschisis, omphalocoele, and diaphragmatic hernia] and ulcerative colitis was associated with 1.53 times [95% CI 1.02–2.30] the risk of central nervous system defects. The association of Crohn’s disease with abdominal wall defects was stronger before 2000 [RR 3.62, 95% CI 1.71–7.67] than after 2000 [RR 1.23, 95% CI 0.55–2.75]. Ulcerative colitis was associated with central nervous system defects regardless of time period. Conclusions These findings suggest that inflammatory bowel disease is associated with the risk of abdominal wall and central nervous system defects, and that introduction of immunobiologic medications is unlikely to be associated with added risk. Podcast This article has an associated podcast which can be accessed at https://academic.oup.com/ecco-jcc/pages/podcast

Collaborative Study on 3-Dimensional Sonography for the Prenatal Diagnosis of Central Nervous System Defects

2011 ◽  
Vol 30 (7) ◽  
pp. 1003-1008 ◽  
Author(s):  
Giuseppe Rizzo ◽  
Alfred Z. Abuhamad ◽  
Beryl R. Benacerraf ◽  
Rabih Chaoui ◽  
Edgardo Corral ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Prenatal Diagnosis ◽  
Collaborative Study ◽  
3 Dimensional ◽  
Central Nervous System Defects

scholarly journals Neuro-Osteology

1998 ◽  
Vol 9 (2) ◽  
pp. 224-244 ◽  
Author(s):  
I. Kjær
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Pituitary Gland ◽  
Developmental Disorders ◽  
Sella Turcica ◽  
Axial Skeleton ◽  
Abnormal Development ◽  
Craniofacial Skeleton ◽  
The Central Nervous System

Neuro-osteology stresses the biological connection during development between nerve and hard tissues. It is a perspective that has developed since associations were first described between pre-natal peripheral nerve tissue and initial osseous bone formation in the craniofacial skeleton (Kjær, 1990a). In this review, the normal connection between the central nervous system and the axial skeleton and between the peripheral nervous system and jaw formation are first discussed. The early central nervous system (the neural tube) and the axial skeleton from the lumbosacral region to the sella turcica forms a unit, since both types of tissue are developmentally dependent upon the notochord. In different neurological disorders, the axial skeleton, including the pituitary gland, is malformed in different ways along the original course of the notochord. Anterior to the pituitary gland/sella turcica region, the craniofacial skeleton develops from prechordal cartilage, invading mesoderm and neural crest cells. Also, abnormal development in the craniofacial region, such as tooth agenesis, is analyzed neuro-osteologically. Results from pre-natal investigations provide information on the post-natal diagnosis of children with congenital developmental disorders in the central nervous system. Examples of these are myelomeningocele and holoprosencephaly. Three steps are important in clinical neuro-osteology: (1) clinical definition of the region of an osseous or dental malformation, (2) embryological determination of the origin of that region and recollection of which neurological structure has developed from the same region, and (3) clinical diagnosis of this neurological structure. If neurological malformation is the first symptom, step 2 results in the determination of the osseous region involved, which in step 3 is analyzed clinically. The relevance of future neuro-osteological diagnostics is emphasized.

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