Localized in vivo proton magnetic resonance spectroscopy and imaging were performed in five children with untreated congenital hypothyroidism to look for biochemical markers of abnormal myelin and neuronal development. The patients had high levels of choline-containing compounds, which returned to normal with euthyroidism. These metabolic alterations may reflect blocks in myelin maturation that are reversible by thyroid hormone replacement throughout childhood.
"Excellent recent reviews discuss these studies in detail (de Escobar et al., 2000). Taken together, these studies present strong evidence that maternal thyroid hormone plays a role in fetal brain development before the onset of fetal thyroid function, and that thyroid hormone deficits in pregnant women can produce irreversible neurological effects in their offspring (Gupta et al., 1995; Klett, 1997). "
"Therefore, NAA increase during ME disease course cannot be explained by treatment effects. Also, Gupta, et al.19 showed that adequate treatment for hypoparathyroidism induced gradual Cho/Cr reduction, similar to our study. As choline decreases according to myelination and maturation, Cho/Cr reduction is not affected solely by a ketogenic diet. "
[Show abstract][Hide abstract] ABSTRACT: Mitochondrial encephalopathy (ME) is a rare disorder of energy metabolism. The disease course can roughly be evaluated by clinical findings. The purpose of this study was to evaluate metabolic spectral changes using proton MR spectroscopy (MRS), and to establish a way to monitor ME by neuroimaging.
Proton MRS data were retrospectively reviewed in 12 patients with muscle biopsy-confirmed ME (M : F = 7 : 5, Mean age = 4.8 years). All received 1H-MRS initially and also after a ketogenic diet and mitochondrial disease treatment cocktail (follow up average was 10.2 months). Changes of N-acetylaspartate/ creatine (NAA/Cr) ratio, choline/creatine (Cho/Cr) ratio, and lactate peak in basal ganglia at 1.2 ppm were evaluated before and after treatment. Findings on conventional T2 weighted MR images were also evaluated.
On conventional MRI, increased basal ganglia T2 signal intensity was the most common finding with ME (n = 9, 75%), followed by diffuse cerebral atrophy (n = 8, 67%), T2 hyperintense lesions at pons and midbrain (n = 4, 33%), and brain atrophy (n = 2, 17%). Lactate peak was found in 4 patients; 2 had disappearance of the peak on follow up MRS. Quantitative analysis showed relative decrease of Cho/Cr ratio on follow up MRS (p = 0.0058, paired t-test, two-tailed). There was no significant change in NAA/Cr ratio.
MRS is a useful tool for monitoring disease progression or improvement in ME, and decrease or disappearance of lactate peak and reduction of Cho/Cr fraction were correlated well with improvement of clinical symptoms.
Yonsei medical journal 09/2010; 51(5):672-5. DOI:10.3349/ymj.2010.51.5.672 · 1.29 Impact Factor
"NMR analysis of sera from children has been used but such studies have largely been limited to known metabolic defects or in the assessment of drug therapy. For example, in vivo brain spectroscopy was able to identify metabolic changes in children with hypothyroidism  and mercaptopurine metabolites in children with inflammatory bowel disease . A recent study of muscle metabolites in the blood of children with juvenile idiopathic inflammatory myopathy  showed that NMR-based analysis of blood and urine creatinine and creatine might have potential in assessing disease damage in this and others diseases such as juvenile chronic arthritis. "
[Show abstract][Hide abstract] ABSTRACT: Metabolomics, the analysis of the metabolite profile in body fluids or tissues, is being applied to the analysis of a number of different diseases as well as being used in following responses to therapy. While genomics involves the study of gene expression and proteomics the expression of proteins, metabolomics investigates the consequences of the activity of these genes and proteins. There is good reason to think that metabolomics will find particular utility in the investigation of inflammation, given the multi-layered responses to infection and damage that are seen. This may be particularly relevant to eye disease, which may have tissue specific and systemic components. Metabolomic analysis can inform us about ocular or other body fluids and can therefore provide new information on pathways and processes involved in these responses. In this review, we explore the metabolic consequences of disease, in particular ocular conditions, and why the data may be usefully and uniquely assessed using the multiplexed analysis inherent in the metabolomic approach.
Journal of Ocular Biology Diseases and Informatics 12/2009; 2(4):235-242. DOI:10.1007/s12177-009-9038-2
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