scholarly journals Magnetic Resonance Imaging (MRI) and Spectroscopy in Succinic Semialdehyde Dehydrogenase Deficiency

2021 ◽  
pp. 088307382199129
Author(s):  
Onur Afacan ◽  
Edward Yang ◽  
Alexander P. Lin ◽  
Eduardo Coello ◽  
Melissa L. DiBacco ◽  
...  

Succinic semialdehyde dehydrogenase (SSADH) deficiency is an autosomal recessive disorder of γ-aminobutyric acid (GABA) degradation, resulting in elevations of brain GABA and γ-hydroxybutyric acid (GHB). Previous magnetic resonance (MR) spectroscopy studies have shown increased levels of Glx in SSADH deficiency patients. Here in this work, we measure brain GABA in a large cohort of SSADH deficiency patients using advanced MR spectroscopy techniques that allow separation of GABA from overlapping metabolite peaks. We observed significant increases in GABA concentrations in SSADH deficiency patients for all 3 brain regions that were evaluated. Although GABA levels were higher in all 3 regions, each region had different patterns in terms of GABA changes with respect to age. We also report results from structural magnetic resonance imaging (MRI) of the same cohort compared with age-matched controls. We consistently observed signal hyperintensities in globus pallidus and cerebellar dentate nucleus.

2021 ◽  
pp. 088307382110012
Author(s):  
Zohreh Ziatabar Ahmadi ◽  
Melissa L. DiBacco ◽  
Phillip L. Pearl

This study reviews the fundamental roles of pre–supplementary motor area (SMA) and SMA-proper responsible for speech-motor functions and auditory perception in succinic semialdehyde dehydrogenase (SSADH) deficiency. We comprehensively searched the databases of PubMed, Google Scholar, and the electronic journals Springer, PreQuest, and Science Direct associated with keywords SSADHD, SMA, auditory perception, speech, and motor with AND operator. Transcranial magnetic stimulation emerged for assessing excitability/inhibitory M1 functions, but its role in pre-SMA and SMA proper dysfunction remains unknown. There was a lack of data on resting-state and task-based functional magnetic resonance imaging (MRI), with a focus on passive and active tasks for both speech and music, in terms of analysis of SMA-related cortex and its connections. Children with SSADH deficiency likely experience a dysfunction in connectivity between SMA portions with cortical and subcortical areas contributing to disabilities in speech-motor functions and auditory perception. Early diagnosis of auditory-motor disabilities in children with SSADH deficiency by neuroimaging techniques invites opportunities for utilizing sensory-motor integration as future interventional strategies.


Author(s):  
George Samandouras

Chapter 2.4 covers the basic concepts of magnetic resonance imaging (MRI), MR angiography (MRA), MR spectroscopy (MRS), MR perfusion (PWI), and MRI safety.


2019 ◽  
Vol 23 (04) ◽  
pp. 405-418 ◽  
Author(s):  
James F. Griffith ◽  
Radhesh Krishna Lalam

AbstractWhen it comes to examining the brachial plexus, ultrasound (US) and magnetic resonance imaging (MRI) are complementary investigations. US is well placed for screening most extraforaminal pathologies, whereas MRI is more sensitive and accurate for specific clinical indications. For example, MRI is probably the preferred technique for assessment of trauma because it enables a thorough evaluation of both the intraspinal and extraspinal elements, although US can depict extraforaminal neural injury with a high level of accuracy. Conversely, US is probably the preferred technique for examination of neurologic amyotrophy because a more extensive involvement beyond the brachial plexus is the norm, although MRI is more sensitive than US for evaluating muscle denervation associated with this entity. With this synergy in mind, this review highlights the tips for examining the brachial plexus with US and MRI.


Endoscopy ◽  
2004 ◽  
Vol 36 (10) ◽  
Author(s):  
BP McMahon ◽  
JB Frøkjær ◽  
A Bergmann ◽  
DH Liao ◽  
E Steffensen ◽  
...  

2019 ◽  
pp. 10-23
Author(s):  
T. A. Akhadov ◽  
S. Yu. Guryakov ◽  
M. V. Ublinsky

For a long time, there was a need to apply magnetic resonance imaging (MRI) technique for lung visualization in clinical practice. The development of this method is stimulated by necessity of the emergence of an alternative to computed tomography, especially when radiation and injection of iodine-containing contrast agents are contraindicated or undesirable, for example, in pregnant women and children, people with intolerance to iodinated contrast. One of the reasons why lung MRI is still rarely used is lack of elaborated standardized protocols that would be adapted to clinical needs of medical society. This publication is a current literature review on the use of MRI in lung studies.


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