Infantile encephalopathy associated with the melas a3243g mutation – diffuse anoxic brain injury

Sue, C.M.; bruno, C.; andreu, A.L.; cargan, A.; mendell, J.R.; tsao, C.Y.Ng; luquette, M.; paolicchi, J.; shanske, S.; dimauro, S.; D.V.Vo, D.C., 1999: infantile encephalopathy associated with the MELAS A3243G mutation. Journal of pediatrics 134(6): 696-700, june MELAS syndrome is typically characterized by normal early development and childhood-onset recurrent neurologic deficits (stroke-like episodes), seizures, short stature, lactic acidosis, and ragged red fibers on muscle biopsy specimens. It is usually, but not invariably, associated with the A3243G point mutation in the mitochondrial DNA trnaleu(UUR) gene.

We report 3 unrelated children with the A3243G mutation who presented with severe psychomotor delay in early infancy.Diffuse anoxic brain injury one patient’s clinical picture was more consistent with leigh syndrome, with apneic episodes, ataxia, and bilateral striatal lesions on brain magnetic resonance imaging (MRI). The second patient had generalized seizures refractory to treatment and bilateral occipital lesions on brain MRI. The third child had atypical retinal pigmentary changes, seizures, areflexia, and cerebral atrophy on brain MRI. All patients had several atypical features in addition to early onset: absence of an acute or focal neurologic deficit, variable serum and cerebrospinal fluid lactate levels, lack of ragged red fibers in muscle biopsy specimens. The proportion of mutant mtdna in available tissues was relatively low (range, 5% to 51% in muscle; 4% to 39% in blood).Diffuse anoxic brain injury these observations further extend the phenotypic expression of the A3243G MELAS mutation. Our findings confirm previous observations that there is poor correlation between abundance of mutant mtdna in peripheral tissues and neurologic phenotype. This suggests that other factors contribute to the phenotypic expression of this mutation.

Other references

Naveen kumar; girish chand srivastava; kiran dixit, 2008: hormonal regulation of flower senescence in roses (rosa hybrida L.). To elucidate the role of the plant hormones-abscisic acid (ABA) and ethylene during flower senescence in roses, experiments were conducted on two cultivars of cut-roses (rosa hybrida L.), ‘grandgala’ and ‘first red,’ obtained…Diffuse anoxic brain injury

Kriechman, A.M., 1987: desipramine and imipramine overdose in a psychotic adolescent. Journal of the american academy of child and adolescent psychiatry 26(1): 108-109

Aschermann, G., 1970: mono- and dizygotic twins of cattle. Deutsche tierarztliche wochenschrift 77(24): 633-637

Tollmann A., 1967: little known types of imbricate tectonic structures, illustrated with examples from the eastern limestone alps, austria. Nappe tectonics, wedge structures.

SongXiaoZhen; lulin; liufenghua; zhanglin; wangtian, 2008: effect of high temperature stress on lipid peroxidation of small intestinal epithelium in piglets. The aim of the present work was to study the effect of high temperature stress on lipid peroxidation indexes of small intestinal epithelium in piglets.Diffuse anoxic brain injury thirty-two weaned piglets with an initial weight of (6.50+or-1.05) kg, 35 day-old were randomly…

Jirikowski G.F.; caldwell J.D.; pedersen C.A., 1987: immunocytochemical analysis of central oxytocin distribution during pregnancy and postpartum. Society for neuroscience abstracts 13(3): 1576

Janssen K.A.; streicher S.L.; foor F.; magasanik B., 1975: mutations in 3 sites unlinked to the glutamine synthetase structural gene each simultaneously affect the adenylylation state and repression of glutamine synthetase. Abstracts of the annual meeting of the american society for microbiology 75: 101

Kozaric, Z., 1984: comparative description of the histoenzyme feature of the superficial breast muscle of some birds.Diffuse anoxic brain injury veterinarski arhiv, 541: 27-33

Anon., 1947: clean sprayers thoroughly when using new materials. Warning: it is almost impossible to remove 2, 4-D from wooden tanks. It may be removed from metal tanks by an alkaline wash, followed by plenty of water.

Perry, K.D.; sharpe, M.E.Isabeth., 1959: heat resistance of lactobacilli from english cheddar cheese. Strains of lactobacilli isolated from milk or cheese showed varied heat resistance to laboratory pasteurization at 140 degrees F for 10 sec. But an average of 99.55% destruction occurred in all strains at 150 degrees F for 10 sec. Heating at 155 d…