scholarly journals The orthopedic characterization of cfap298tm304 mutants validate zebrafish to faithfully model human AIS

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Marie-Hardy Laura ◽  
Cantaut-Belarif Yasmine ◽  
Pietton Raphaël ◽  
Slimani Lotfi ◽  
Pascal-Moussellard Hugues

AbstractCerebrospinal fluid (CSF) circulation relies on the beating of motile cilia projecting in the lumen of the brain and spinal cord cavities Mutations in genes involved in cilia motility disturb cerebrospinal fluid circulation and result in scoliosis-like deformities of the spine in juvenile zebrafish. However, these defects in spine alignment have not been validated with clinical criteria used to diagnose adolescent idiopathic scoliosis (AIS). The aim of this study was to describe, using orthopaedic criteria the spinal deformities of a zebrafish mutant model of AIS targeting a gene involved in cilia polarity and motility, cfap298tm304. The zebrafish mutant line cfap298tm304, exhibiting alteration of CSF flow due to defective cilia motility, was raised to the juvenile stage. The analysis of mutant animals was based on micro-computed tomography (micro-CT), which was conducted in a QUANTUM FX CALIPER, with a 59 µm-30 mm protocol. 63% of the cfap298tm304 zebrafish analyzed presented a three-dimensional deformity of the spine, that was evolutive during the juvenile phase, more frequent in females, with a right convexity, a rotational component and involving at least one dislocation. We confirm here that cfap298tm304 scoliotic individuals display a typical AIS phenotype, with orthopedic criteria mirroring patient’s diagnosis.

Neurosurgery ◽  
1983 ◽  
Vol 12 (4) ◽  
pp. 435-438 ◽  
Author(s):  
Thomas Dóczi ◽  
Zoltán Nemessányi ◽  
Zsuzsa Szegváry ◽  
Endre Huszka

Abstract Radioisotope cisternography was performed and the erythrocyte and hemoglobin contents of the cerebrospinal fluid (CSF) were determined within the first 4 days after subarachnoid hemorrhage in 42 patients. The clinical condition of the patients was related to the severity of the CSF circulation disturbances. Thirty-five patients had some degree of disturbance of CSF flow, and only 2 of the 42 patients had normal flow. In 5 cases the cisternograms were inconclusive. The severity of CSF circulation disturbances correlated well with clinical condition. No relationship was found between the number of erythrocytes in the CSF and the development of CSF circulation disturbances. The CSF erythrocyte content did not correlate with the clinical condition. It is suggested that flow disturbances of the CSF during the acute stage of subarachnoid hemorrhage might play an important role in the pathomechanism of the disease.


2018 ◽  
Vol 39 (7) ◽  
pp. 1258-1265 ◽  
Author(s):  
Antoine P Fournier ◽  
Maxime Gauberti ◽  
Aurélien Quenault ◽  
Denis Vivien ◽  
Richard Macrez ◽  
...  

An alteration of parenchymal cerebrospinal fluid circulation (CSF) has been proposed to take part in the pathophysiology of multiple sclerosis. By using an intragate T1-weighted high-resolution MRI of the spinal cord of freely breathing mice injected with a gadolinium chelate in the cisterna magna, we show that a parenchymal CSF circulation exists in the spinal cord, in addition to that originally described in the brain. In experimental autoimmune encephalomyelitis, a model of multiple sclerosis, we show a reduction of parenchymal CSF circulation specifically in the spinal cord but not in the brain.


Author(s):  
A. Everette James ◽  
Gary R. Novak ◽  
Ernst-Peter Strecker ◽  
Barry B. Burns ◽  
Francisco Correa-Paz ◽  
...  

2021 ◽  
Vol 2 (2) ◽  
pp. 100-106
Author(s):  
Aleksandra I. Pavlyuchkova ◽  
Aleksey S. Kotov

In childhood, various infectious, autoimmune, genetic diseases can manifest. We present a case of fatal encephalomyelopolyradiculoneuritis of unknown etiology in a 9-year-old child. Patient N.K. in February 2019, noted an increase in temperature to subfebrile values, received symptomatic and antibiotic therapy without effect. An increase in protein and lymphocytes was found in the cerebrospinal fluid. According to MRI data, the emergence of more and more foci of the pathological signal in the brain and spinal cord, cranial nerves and nerve roots of the lumbar plexus was noted. Known infectious and autoimmune diseases were excluded. Despite active therapy with glucocorticoids, antibiotics, antiviral drugs, immunoglobulin, the disease continued to progress, and the patient died in April 2020.


Sign in / Sign up

Export Citation Format

Share Document