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A mutation of aspartoacylase gene in a Turkish patient with Canavan disease: Canavan disease (CD) is an autosomal recessive inherited disorder characterized by spongy degeneration of the brain. The deficiency of aspartoacylase (ASPA), resulting in the accumulation of N-acetyl aspartic acid (NAA) in the brain, plays an important role in the pathogenesis of the disease. The cardinal features of this neurodegenerative disease are macrocephaly, mental retardation, and hypotonia. Magnetic resonance imaging (MRI) of the brain generally shows diffuse white matter degeneration and also elevated excretion of urinary NAA is usually seen. A large number of mutations were identified to date. We report here a 9 months old girl with Canavan Disease and a homozygous c.79G>A mutation in the ASPA gene, detected for the first time in Turkish population.

Ischemia is defined as cell death caused by insufficient perfusion of the tissue due to reduction in arterial or venous blood flow, depletion of cellular energy storages, and accumulation of toxic metabolites. The positive effects of controlled reperfusion are known and are used clinically. But the positive effects of controlled reperfusion on ovarian tissue have not been seen in the literature yet. The biochemical and histopathological comparative investigation of rat ovaries that were experimentally exposed to ischemia (IG), ischemia-reperfusion (I/R), and ischemia-controlled reperfusion (ICR) was aimed. Forty rats were divided into four groups (10 rats per group). First group: 3 h ischemia by vascular clips on ovarian tissue. Second group: 3 h ischemia + 1 h reperfusion. Third group: 3 h ischemia + 1 h controlled reperfusion (on-off method: controlled reperfusion by opening and closing the clips (on/off) in 10-second intervals, for 5 times for a total of 100 seconds). Fourth group: healthy rats. Biochemical (tGSH, MDA, and DNA damage level and SOD activity) and histopathological analysis were performed. The highest glutathione and superoxide dismutase measurements were found in ischemia/controlled reperfusion group among the ischemia or ischemia/reperfusion groups. Similarly the damage indicators (malondialdehyde, DNA damage level and histopathological damage grade) were the lowest in ischemia/controlled reperfusion group. These results indicate that controlled reperfusion can be helpful in minimizing ischemia-reperfusion injury in ovarian tissue exposed to ischemia for various reasons (ovarian torsion, tumor, etc.).

PubMed ID: 23146618, Purpose: An elevated level of S-100B in serum is generally considered to be a biochemical marker of nervous tissue damage. According to our knowledge, no studies have evaluated the serum S-100B protein concentration in children with temporal lobe epilepsy. The objective of this study was to measure the serum levels of S-100B protein in pediatric cases with temporal epilepsy. Methods: This case-controlled cross-sectional study was performed at the Department of Pediatric Neurology, Harran University School of Medicine, Sanliurfa, in Turkey. Serum S-100B protein levels were studied in 19 (12 females, 7 males) children with temporal lobe epilepsy and in 25 (15 females, 10 males) healthy control subjects. Serum samples were collected within 30 min after a complex partial seizure, and serum S-100B protein levels were measured with an electrochemiluminescence immunoassay for the quantification of protein (ECLIA kit, Roche® Diagnostics, Germany). Results: The mean serum concentration of S-100B protein was 0.12 ± 0.02 µg/L in the temporal lobe epilepsy group and 0.07 ± 0.01 µg/L in the control group. The patients showed significantly elevated S-100B protein levels compared with healthy controls (P < 0.001). Conclusion: Our data suggest that increased S-100B protein levels in the serum might reflect neuronal damage in the brains of children with temporal lobe epilepsy. These results do confirm the previous findings of elevated S-100B protein levels in adult patients with temporal lobe epilepsy. © 2012 British Epilepsy Association.