scholarly journals Prenatally diagnosed developmental abnormalities of the central nervous system and genetic syndromes: A practical review

2019 ◽  
Vol 39 (9) ◽  
pp. 666-678 ◽  
Author(s):  
Ignatia B. Van den Veyver
2020 ◽  
pp. 6350-6367
Author(s):  
Christopher M. Verity ◽  
Jane A. Hurst ◽  
Helen V. Firth

This chapter deals with abnormalities that may result from failures at particular stages of central nervous system development. The brain and spinal cord arise from a sheet of cells that undergo transformations into the final complex structure. Failure of closure of the neural tube may result in anencephaly or spina bifida and failure of regionalization may cause holoprosencephaly. Disorders of neural proliferation or migration cause abnormalities of the cerebral cortex. There are distinct malformations of the posterior fossa structures and there are complex malformations that cannot be ascribed to just one abnormal step in development. The clinical problems associated with developmental abnormalities of the central nervous system are discussed and the approach to obtaining a clinical molecular diagnosis and providing genetic advice to the family is outlined.


Author(s):  
Christy Vijay ◽  
Preetha Tilak

Background: The central nervous system is an intricate networking of electric signals that intertwines the functioning of all senses of speech, thoughts etc. A genetic mutation in this complex structure is known to cause many neurological diseases.Methods: Records of the genetic analysis reports of patients were studied. Patients with CNS genetic syndromes or tubulinopathies in fetus of the present pregnancy or previous pregnancy who presented themselves only for genetic counseling with the genetic analysis report done at an outside diagnostic center were selected.Results: Ten patients presented with history congenital abnormalities of the structure of the central nervous system in pregnancy. Non-invasive investigations in the first child led to the need for genetic analysis of the present foetus. EEG showing independent S2 foci and left central parietal and right temporal region with bilateral synchronous discharge was noticed. MRI findings such as chronic infarct with encephalomalacia were seen.Conclusions: Our study identified genes responsible for CNS abnormalities in structure and function and the Exom sequence in which they occurred. We were able to observe various types of clinical presentations of the syndromes on MRI/USG.


Author(s):  
Gladys Harrison

With the advent of the space age and the need to determine the requirements for a space cabin atmosphere, oxygen effects came into increased importance, even though these effects have been the subject of continuous research for many years. In fact, Priestly initiated oxygen research when in 1775 he published his results of isolating oxygen and described the effects of breathing it on himself and two mice, the only creatures to have had the “privilege” of breathing this “pure air”.Early studies had demonstrated the central nervous system effects at pressures above one atmosphere. Light microscopy revealed extensive damage to the lungs at one atmosphere. These changes which included perivascular and peribronchial edema, focal hemorrhage, rupture of the alveolar septa, and widespread edema, resulted in death of the animal in less than one week. The severity of the symptoms differed between species and was age dependent, with young animals being more resistant.


Author(s):  
John L.Beggs ◽  
John D. Waggener ◽  
Wanda Miller ◽  
Jane Watkins

Studies using mesenteric and ear chamber preparations have shown that interendothelial junctions provide the route for neutrophil emigration during inflammation. The term emigration refers to the passage of white blood cells across the endothelium from the vascular lumen. Although the precise pathway of transendo- thelial emigration in the central nervous system (CNS) has not been resolved, the presence of different physiological and morphological (tight junctions) properties of CNS endothelium may dictate alternate emigration pathways.To study neutrophil emigration in the CNS, we induced meningitis in guinea pigs by intracisternal injection of E. coli bacteria.In this model, leptomeningeal inflammation is well developed by 3 hr. After 3 1/2 hr, animals were sacrificed by arterial perfusion with 3% phosphate buffered glutaraldehyde. Tissues from brain and spinal cord were post-fixed in 1% osmium tetroxide, dehydrated in alcohols and propylene oxide, and embedded in Epon. Thin serial sections were cut with diamond knives and examined in a Philips 300 electron microscope.


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