Autonomic nervous system functions in children with breath-holding spells and effects of iron deficiency

Aim: To analyse the activity of the autonomic nervous system during breath-holding spells, we assessed the ECG changes, including ventricular repolarization parameters before and during the spell. We also analysed the effects of iron deficiency on these ECG parameters. Methods: The study group consisted of 37 children with breath-holding spells (30 cyanotic, 7 pallid) (mean age±SD: 12.9±10.8 mo). Twenty-six healthy children (mean age±SD: 14.4±8.6 mo) served as a control group. All patients and controls had standard 12-lead simultaneous surface ECG. All patients had ECG recordings during at least one severe breath-holding spell obtained by “event recorder”. Traces obtained by “event recorder” were analysed in terms of mean heart rate and the frequency and duration of asystole during the spell. Results: Respiratory sinus arrhythmia on standard ECGs and asystole frequency during spells were higher in patients with pallid breath-holding spells. Patients with iron deficiency had a lower frequency of respiratory sinus arrhythmia and prolonged asystole time during the spell. There was no difference in terms of ventricular repolarization parameters (QT/QTc intervals and QT/QTc dispersions) between patients and controls and between patient subgroups (cyanotic versus pallid).

Conclusion: These results confirmed the presence of autonomic dysregulation in children with breath-holding spells. Iron deficiency may have an impact on this autonomic dysregulation. Ventricular repolarization was unaffected in patients with breath-holding spells.     

Antioxidant properties of propofol and erythropoietin after closed head injury in rats

Reactive oxygen species play a role during brain injury due to closed head trauma. Enzymatic or nonenzymatic antioxidants may protect brain tissue against oxidative damage. The present study was performed to assess the changes of endogenous indices of oxidative stress in serum from rats subjected to head trauma and whether treatment with propofol and/or erythropoietin (EPO) modifies the levels of endogenous indices of oxidative stress. For these purposes, female Wistar Albino rats were divided into five groups: non-traumatic sham group, trauma performed control, trauma with propofol (i.p.), trauma with EPO (i.p.) and trauma with propofol and EPO performed study groups. At the end of the experimental procedure, blood was taken by cardiac puncture to determine superoxide dismutase (SOD) and xanthine oxidase (XO) activities as well as malondialdehyde (MDA) and nitric oxide (NO) levels in serum. Serum MDA level of control traumatic brain injury (TBI) group was significantly higher than sham operation group (p<0.012). Serum MDA levels in propofol, EPO and propofol+EPO groups were found to be decreased in comparison with control group (p<0.039, p<0.030 and p<0.018, respectively). Serum NO level was found to be increased in TBI group, but difference was not statistically significant when compared to sham-operated group (p=0.092). Propofol, EPO and propofol+EPO administration efficiently reduced serum NO levels to reach sham-operated group (p<0.002, p<0.001 and p<0.015, respectively). These results suggested that acute administration of both propofol and EPO altered the indices of oxidative stress similarly against brain injury due to trauma.     

Deletion analysis and clinical correlations in patients with Xp21 linked muscular dystrophy

We carried out molecular deletion analysis on 142 patients with Duchenne/Becker muscular dystrophy which covered 25 exons of the dystrophin gene. We also evaluated the results by comparing with the clinical findings and examples in the literature. A deletion ratio of 63.7% was achieved. Exon 46 was the most frequently affected region. Interestingly we also observed four cases with muscle promoter (Mp) region deletions which have been rarely reported in the literature.     

Fludarabine-induced hemolytic anemia: successful treatment by rituximab

Autoimmune disorders are frequent in chronic lymphocytic leukemia (CLL). Some drugs such as fludarabine may increase the risk of these phenomena and may even be fatal. The management of autoimmune disorders is not standard and corticosteroid is the most frequently used drug in these situations. Here, a case with CLL and severe autoimmune hemolytic anemia associated with fludarabine and successful treatment by rituximab has been reported.     

Glutaric aciduria type 1: proton magnetic resonance spectroscopy findings

Glutaric aciduria type 1 is an inborn error of lysine, hydroxylysine, and tryptophan metabolism caused by deficiency of glutaryl-coenzyme A dehydrogenase. The disease often appears in infancy with an encephalopathic episode that results in acute basal ganglia and white matter degeneration. The neuroimaging findings in glutaric aciduria type 1 have been well defined. However, the changes in magnetic resonance spectroscopy, a noninvasive tool for identifying the biochemical state of the brain, are scarce in glutaric aciduria type 1. This report presents the magnetic resonance spectroscopy findings in a 19-month-old male with glutaric aciduria type 1. Magnetic resonance spectroscopy of right frontal white matter and right lentiform nuclei revealed decreased N-acetylaspartate/creatine ratio, slightly increased choline/creatine ratio, and increased myoinositol/creatine ratio, compared with the age-matched control patients. We thought that these changes were in accordance with neuroaxonal damage, demyelination, and astrocytosis in these areas. In conclusion, proton magnetic resonance spectroscopy provides a tool for assessing metabolic disturbances and the extent of brain damage noninvasively in glutaric aciduria type 1.     

Comparative effects of high glucose on different adult sympathetic neurons in culture

In vivo, diabetes causes neuropathy in the sympathetic celiac/superior mesenteric ganglion (CG/SMG) but not the superior cervical ganglion (SCG). Therefore, our aim was to compare the effects of high glucose in vitro on adult rat SCG and CG/SMG neurons. High glucose decreased viability and neurite outgrowth and increased TUNEL staining in freshly dissociated neurons from both ganglia. In cultures established for 24 h before exposure to high glucose, a significant (p < 0.01) decrease in neurite-bearing neurons from CG/SMG but not SCG occurred. CG/SMG neurons took longer (p < 0.05) to initiate neurite outgrowth and had lower (p < 0.002) anti-oxidant defence enzyme activity. These properties may contribute to the selective development of neuropathy in CG/SMG in diabetes in vivo.     

Lipoma arborescens; successfully treated by yttrium-90 radiosynovectomy

Although radiosynovectomy (RS) applications have been carried out for many years, clinical indications of this non-invasive procedure is thought to be limited probably due to the lack of information of clinicians. Clinicians' preferential indication for RS is the treatment-resistant synovitis of individual joints, i.e. despite systemic pharmacotherapy and intra-articular steroid injections. We present here a case of "lipoma arborescens" treated by yttrium-90, which is a rare intra-articular lesion characterized by villous proliferation of the synovial membrane and hyperplasia of subsynovial fat. The results of clinical, biochemical and hematological examinations, magnetic resonance (MR) imaging, arthroscopy and histological analysis have shown that the etiology was lipoma arborescens in a female patient, aged 36 having swelling and sometimes associating pain at her right knee for 4 years. We have applied to our patient's right knee RS with 185 MBq yttrium-90 colloid together with 40 mg of methylprednisolone acetate, although in our literature survey we have not met any similar case being treated with such indication. Even a year after the application, the patient has absolutely benefited from the treatment clinically, and this was also confirmed by comparative MR images (pre- and post-treatment). Consequently, we consider that Y-90 treatment might be applicable in suitable cases with lipoma arborescens.     

Serum carnitine levels during oxcarbazepine and carbamazepine monotherapies in children with epilepsy

Prolonged antiepilepsy drug treatment can result in secondary carnitine deficiency. The effect of oxcarbazepine on carnitine metabolism has not been reported previously. In this study, serum concentrations of total and free carnitine were measured in 20 children with epilepsy treated with oxcarbazepine monotherapy and were compared with 20 children with epilepsy who were taking carbamazepine as monotherapy. The assays were performed between 3 and 6 months of anticonvulsant treatment. The mean values of serum total and free carnitine levels in patients receiving carbamazepine monotherapy were 63.0 +/- 20.7 micromol/L and 49.1 +/- 16.7 micromol/L, respectively. The mean values of serum total and free carnitine levels in patients receiving oxcarbazepine monotherapy were 64.2 +/- 17.4 micromol/L and 50.3 +/- 13.7 micromol/L, respectively. The values were all between normal ranges. No significant difference was observed in the level of total and free carnitine levels between the two groups. Our results suggest that neither oxcarbazepine nor carbamazepine as monotherapy causes carnitine deficiency in otherwise healthy children with primary idiopathic epilepsy.