Progressive Clinical and Neuroradiological Findings in a Child with BCL11B Missense Mutation: Expanding the Phenotypic Spectrum of Related Disorder

2021 ◽  
Author(s):  
Enrico Alfei ◽  
Elisa Cattaneo ◽  
Luigina Spaccini ◽  
Maria Iascone ◽  
Pierangelo Veggiotti ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Missense Mutation ◽  
Clinical Aspects ◽  
Related Disorder ◽  
Central Nervous System Damage ◽  
Phenotypic Spectrum ◽  
Progressive Course ◽  
The Way

AbstractWe report a patient affected by BCL11B-related disorder, providing the first extensive demonstration of clinical and neuroradiological progressive course of the disease, with possible implications on the way it is studied and followed-up. Never described clinical aspects such as toes abnormalities and hypospadias widen the range of dysmorphisms associated with this condition. Our data suggest that BCL11B mutations may be implicated not only in impaired morphogenesis and hematopoiesis but also in progressive central nervous system damage, which remains to be further investigated and clarified.

Brain organoids: a promising model to assess oxidative stress‐induced Central Nervous System damage

2021 ◽  
Author(s):  
Foluwasomi A. Oyefeso ◽  
Alysson R. Muotri ◽  
Christopher G. Wilson ◽  
Michael J. Pecaut
Keyword(s):  
Oxidative Stress ◽  
Central Nervous System ◽  
Nervous System ◽  
Central Nervous System Damage

scholarly journals Troublesome Heterotopic Ossification after Central Nervous System Damage: A Survey of 570 Surgeries

PLoS ONE ◽  
2011 ◽  
Vol 6 (1) ◽  
pp. e16632 ◽  
Author(s):  
François Genêt ◽  
Claire Jourdan ◽  
Alexis Schnitzler ◽  
Christine Lautridou ◽  
Didier Guillemot ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Heterotopic Ossification ◽  
Central Nervous System Damage

scholarly journals Further Investigations on the Function of the Electrical Organ of the Skate

1889 ◽  
Vol 1 (1) ◽  
pp. 74-74 ◽  
Author(s):  
Burdon Sanderson ◽  
F. Gotch
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Electromotive Force ◽  
Electric Organ ◽  
Physiological Laboratory ◽  
The Central Nervous System ◽  
Work Done ◽  
The Way

During the month of September, 1888, we availed ourselves of the facilities afforded by the Laboratory for the purpose of continuing the investigations began by us the year before, of the function of the electrical organ of the skate. In the record of the work done by us in 1887 at St. Andrews, published in the Journal of Physiology, vol. ix, p. 137, we indicated several new lines of investigation which we hoped to pursue if the opportunity offered. Two of these indications we have now been able to fulfil satisfactorily, namely, those relating to the electromotive force of the shock, and to the way in which the function of the electric organ is controlled and influenced by the central nervous system. In the first of these inquiries, we used apparatus which was brought from the Oxford Physiological Laboratory, and temporarily fitted up in the room at Plymouth, which is set apart for physiological researches, and which we found well adapted for this purpose. For the second, a large number of experiments and consequently a considerable number of fish were requisite. Forty skates of various species (Raia Batis, R. clavata, R. microcellata, and R. maculata) were supplied to us and used in our researches, of which the result will shortly be ready for publication.We desire to express in the strongest terms our appreciation of the advantages afforded by the Laboratory for physiological researches. We would also record our personal obligation to the Director for his uniform courtesy and untiring zeal in obtaining for us, in spite of considerable difficulties, the material required for our work.

scholarly journals Design and Implementation ofReal-time Electrical Stimulation Artifact Suppression based on STM32

2021 ◽  
Vol 12 (5) ◽  
pp. 424-427
Author(s):  
Sangsoo Park, Hojun Yeom
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Electrical Stimulation ◽  
Embedded System ◽  
Muscle Contraction ◽  
Real Time ◽  
High Performance ◽  
Floating Point ◽  
Time Signal ◽  
Central Nervous System Damage

A biosignal is used as a control signal for electrical stimulation to restore weakened muscle function due to damage to the central nervous system. In patients with central nervous system damage, sufficient muscle contraction does not occur spontaneously. In this case, applying electrical stimulation can cause normal muscle contraction. However, it is necessary to remove the electrical stimulation artifact caused by the electrical stimulation. This paper describes a system design that removes electrical stimulation artifact in real time using a Cortex-M4-based STM32F processor. The STM32F is a very advantageous MCU for such DSPs, especially because it has a built-in floating point operator. Using STM32F's various high-performance peripherals (12-bit parallel ADC and 12-bit DAC, UART, Timer), an optimized embedded system was implemented.In this paper, the simulated and real-time results were compared and evaluated with the designed fir filter. In addition, the performance of the filter was evaluated through frequency analysis. As a result, it was verified that a high-performance 32-bit STM32F with floating point calculator and various peripherals is suitable for real-time signal processing

scholarly journals Mycobacterium of tuberculosis with defective cell wall, determined in the brain of the biological model with spongional changes

2019 ◽  
Vol 23 (1) ◽  
pp. 12-19
Author(s):  
O.P. Lysenko ◽  
V.V. Vlasenko ◽  
H.K. Palii ◽  
I.H. Vlasenko ◽  
O.A. Nazarchuk
Keyword(s):  
Central Nervous System ◽  
Cell Wall ◽  
Nervous System ◽  
Mycobacterium Tuberculosis ◽  
Brain Damage ◽  
Molecular Genetic Study ◽  
Central Nervous System Damage ◽  
Infectious Dose ◽  
Microbiological Methods ◽  
The Brain

Mycobacterium tuberculosis is endowed with resistance to adverse factors and rapidly forms drug resistance. The aim is to study of the connection of tuberculosis infection and the development of brain damage with signs of spongymorphic changes. There were investigated canned 10% formalin fragments of the brain of 2 goats with signs of central nervous system damage by histological, microbiological methods. For microbiological examination, 3–5 years brain samples after were sowed on the MycСel DW nutrient medium with a growth stimulator. The molecular genetic study was performed using a polymerase chain reaction on a Molecular Imager GelDoc TM XR + (BioRad) device. The polypeptide profile was studied electrophoretically. In the goats, who died with symptoms of central nervous system damage, spongiform changes were detected in the brain. In the brain samples, DNA and mycobacterium tuberculosis with a defective cell wall have been detected, accumulation of mycobacterial antigens has been observed in the cells of the brain and in the intercellular space. Despite the fact that brain samples were in 10% formalin for 1 month, 3 years and 5 years, in all cases mycobacterium tuberculosis with a defective cell wall was isolated. Their viability was comparable to the infectiousness of prions. The isolation of mycobacterium tuberculosis with a defective cell wall from the brain did not differ in morphology and polypeptide composition from isolates from tuberculin, FLK-BLV, lymph nodes of cows, patients with tuberculosis. This indicates a high probability that mycobacterial infection, depending on the infectious dose, the characteristics of the strain and host genome, as well as the state of the immune system, can cause oncogenic action, cause active tuberculosis, brain damage, and the cardiovascular system.

scholarly journals The central nervous system is a target of acute graft versus host disease in mice

Blood ◽  
2013 ◽  
Vol 121 (10) ◽  
pp. 1906-1910 ◽  
Author(s):  
Steffen Hartrampf ◽  
Jarrod A. Dudakov ◽  
Linda K. Johnson ◽  
Odette M. Smith ◽  
Jennifer Tsai ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Central Nervous System Damage ◽  
Graft Versus Host ◽  
Alloreactive T Cells ◽  
Key Points ◽  
The Central Nervous System ◽  
Anxiety Behavior ◽  
Direct Target ◽  
Acute Graft

Key Points The central nervous system can be a direct target of alloreactive T cells during GVHD. Central nervous system damage in mouse models of GVHD lead to deficits in learning and increased anxiety behavior.

LONGITUDINAL STUDY OF THE INCIDENCE OF CENTRAL NERVOUS SYSTEM DAMAGE FOLLOWING ERYTHROBLASTOSIS FETALIS

PEDIATRICS ◽  
1954 ◽  
Vol 14 (4) ◽  
pp. 346-350
Author(s):  
MARGARET H. JONES ◽  
RUSSELL SANDS ◽  
CAROL B. HYMAN ◽  
PHILLIP STURGEON ◽  
FREMONT P. KOCH
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Longitudinal Study ◽  
Central Nervous System Involvement ◽  
Newborn Period ◽  
Central Nervous System Damage ◽  
System Involvement ◽  
Childrens Hospital ◽  
Infancy And Childhood

One hundred unselected cases of erythroblastosis fetalis treated at Childrens Hospital in the newborn period have been followed from six months to five years in an effort to evaluate the relation of central nervous system signs in the newborn period to neuromuscular handicap and overall development later. Of those showing no central nervous system signs in the newborn period 4% showed definite abnormality later. Of those showing equivocal signs in the newborn period 33% showed definite abnormality later. Of those having definite signs early, 100% continued to show abnormality in infancy and childhood. There was no relation of the severity of the signs in the newborn period to the severity of the later handicap. It is suggested, therefore, that one cannot be certain of the later normality of an infant showing no definite or equivocal central nervous system involvement in the newborn period. Careful following of all erythroblastotic infants until six to eight years of age or longer is advisable.

Design, fabrication, and testing of a bioprinted nerve graft

2016 ◽  
Author(s):  
◽  
Christopher M. Owens
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Nerve Graft ◽  
Loss Of Function ◽  
Vitro Assay ◽  
Central Nervous System Damage ◽  
In Vivo Animal Model ◽  
The Central Nervous System

Injuries to nerves vary in their consequences, from weakened sensation and motor function to partial or complete paralysis. In the latter case, affecting about twenty thousand Americans yearly, the injury is debilitating and results in a significant decrease in quality of life. Currently there is no effective treatment for damage to the central nervous system, in particular the spinal cord. Compared to the injuries to the central nervous system, damage in the peripheral nerves, is more common, with about sixty thousand occurrences annually. The cost of associated surgical procedures and due to loss of function is in the billions. In this thesis we present work towards the construction and testing of a fully cellular, patented nerve graft, one amongst the first of its kind. For the fabrication of the graft we are the first to employ bioprinting (either implemented through a special purpose 3D bioprinter or manually), a novel tissue engineering method rapidly gaining acceptance and utility. We first review the status of bioprinting. We then detail the fabrication process. Next we report on the testing of the graft in an in vivo animal model through electrophysiology and histology. This is followed by the introduction of a novel in vitro model, aimed at providing a fast, inexpensive and reliable method to test engineered nerve grafts. We describe our work on the optimization of the in vitro assay and then the testing of the graft using the optimized assay. We conclude with a summary of our accomplishments and make suggestions for some exciting future applications of our approach.

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