Evaluation of cardiac arrhythmias by electrocardiographic markers in pediatric patients who have tuberous sclerosis without cardiac rhabdomyoma.

BACKGROUND: Tuberous sclerosis (TS) is an autosomal dominant and hereditary disorder. Cardiac rhabdomyoma and arrhythmias are the most deleterious risk factors linked to TS. Although arrhythmias in pediatric patients with TS who have cardiac rhabdomyoma have been frequently reported, arrhythmia in patients who have TS without rhabdomyoma is rarely reported in the literature. The study aimed to assess the susceptibility of pediatric patients who have TS without cardiac rhabdomyoma to cardiac arrhythmia using electrocardiographic (ECG) markers. METHODS: This prospective study included 10 patients who had TS without cardiac rhabdomyoma. The control group was made up of 30 healthy children of the same age and sex as the patient group. P wave, P wave dispersion, QT dispersion, QTc dispersion, TP-e interval, and TP-e interval dispersion were calculated on 12-lead surface ECGs for each patient in both groups and compared. RESULTS: P wave, P wave dispersion, QT dispersion, and QTc dispersion were found to be significantly higher in the patient group (P<0.001). Furthermore, patients had a greater Tp-e interval and Tp-e interval dispersion than healthy children (P<0.001). CONCLUSION: Pediatric patients with TS without cardiac rhabdomyoma might be prone to atrial and ventricular arrhythmias according to their prolonged ECG markers. Our findings suggest that patients with TS without cardiac rhabdomyoma need close monitoring for atrial and ventricular arrhythmias.

A case of L-2 hydroxyglutaric aciduria presenting as febrile seizure.

L-2 hydroxyglutaric aciduria (L2HGA) is a rare, infantile-onset, autosomal recessive organic aciduria affecting exclusively the central nervous system. A case is reported here of L2HGA presenting with macrocephaly and febrile seizure. Although there have been reports of epilepsy associated with L2HGA, to the best of our knowledge this is the second case in literature of febrile seizure in a patient with L2HGA. This report suggests that detailed neurological evaluation of macrocephalic children with febrile convulsion is important. Moreover, metabolic and genetic investigations may be necessary for these kinds of patients.

The apoptotic effects of escin in the H-Ras transformed 5RP7 cell line.

Extracts of Aesculus hippocastanum L. (horse chestnut) seed have been used in the treatment of chronic venous insufficiency, edema and hemorrhoids. Most of the beneficial effects of horse chestnut are attributed to its principal component ß-escin or escin. We have evaluated the cytotoxic and apoptotic effects of escin in the H-Ras 5RP7 cell line by analyzing cell growth inhibition, apoptosis and caspase-3 dependent activity. We have also shown structural and ultrastructural changes in these cell using confocal and transmission electron microscopy. The results indicated that escin has significant inhibitory effects on cell growth and the percentage of apoptotic cells increased after treatment with escin, and the micrographs confirmed that escin damaged these cells and induced apoptosis.

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.

Epidemiological findings and clinical and magnetic resonance presentations in subacute sclerosing panencephalitis.

Subacute sclerosing panencephalitis (SSPE) is a rare, progressive, inflammatory neurodegenerative disease. This study investigated the relationships of clinical stage with epidemiological and magnetic resonance imaging (MRI) findings in SSPE by retrospective review of 76 cases (57 male) diagnosed by typical periodic electroencephalographic features, clinical symptoms and elevated measles antibody titre in cerebrospinal fluid. Clinical stage at diagnosis was I or II in 48 patients, III in 25 and IV in three. Prominent findings at presentation were atonic/myoclonic seizures (57.9%) and mental deterioration with behaviour alteration (30.3%). Frequent MRI findings (13 - 32 patients) were subcortical, periventricular and cortical involvement and brain atrophy; the corpus callosum, basal ganglia, cerebellum and brainstem were less frequently involved. Five patients had pseudotumour cerebri. Cranial MRI at initial diagnosis was normal in 21 patients (19 stage I/II, two stage III/IV). Abnormal MRI findings were significantly more frequent in the later stages, thus a normal initial cranial MRI does not exclude SSPE, which should, therefore, be kept in mind in childhood demyelinating diseases even when the presentation is unusual.

Structural changes of Artemia parthenogenetica (Bowen and Sterling, 1978) (Branchiopoda-Anostraca) exposed to lead acetate.

The cosmopolitan genus Artemia occurs both in saline or hypersaline waters and Artemia species are sensitive indicator organisms for environmental contamination. Scientists propose that the brine shrimp (Artemia) is a very suitable candidate for the development of identifying chemicals with adverse effects in aquatic ecosystems. In the present study, we investigated 24h the short-term toxicity of lead acetate on Artemia parthenogenetica by using electron microscopy techniques. The ultrastructural changes were studied control group and experimental group. Analysing cellular structure, structure of organelles and vacuolization were observed. The number of cells based on the toxic effects of lead acetate was increased compared with the control group.

Serum lipid and lipoprotein profile in children with iron deficiency anemia.

BACKGROUND: A close association has been found between serum lipoprotein abnormalities and the risk of atherosclerosis. In adults, high stored body iron, high serum iron concentrations and low iron binding capacity were found to be risk factors for coronary heart disease. Iron-deficient diets have caused contradictory lipid changes in rats. This report investigates the relationships between iron deficiency, macronutrient intake and the serum lipid and lipoprotein profiles in children with iron deficiency anemia (IDA). METHODS AND RESULTS: Fifty-six children with IDA, aged 3.0 +/- 1.3 years and 60 healthy age- and sex-matched controls were evaluated. The mean total cholesterol (TC) and low density lipoprotein cholesterol (LDL-C), lipoprotein (a) levels and LDL-C/high density lipoprotein cholesterol (HDL-C) and TC/HDL-C ratios of the IDA group were significantly lower than those of controls. While there were no differences in triglycerides and apolipoprotein B (apoB) values between patients and controls, apolipoprotein A-1 (apoA-1) and HDL-C levels were higher in the IDA group. Dietary energy, carbohydrates, total fat and protein intakes of the IDA group were lower than those of controls. After oral iron supplementation, the lipoprotein profile of patients with IDA became similar to controls. In the multivariate analysis, while energy was taken as a covariate, there was no difference in the lipid profile of patients and controls. CONCLUSIONS: Patients with IDA are also deficient in macronutrients. The low atherogenic serum lipid profile of IDA is not a direct result of iron deficiency itself, but related to decreased energy and protein intakes.

Prevalence of nocturnal enuresis and accompanying factors in children aged 7-11 years in Turkey.

There has been limited epidemiological research about nocturnal enuresis in Turkey. The objectives of this study were to ascertain the prevalence of nocturnal enuresis and the epidemiological factors associated with this in Turkish children aged 7-11 y, living in Manisa. Included in the study were 2000 children from various primary schools in Manisa. Parents were asked to fill out our specially designed questionnaire. In all, questionnaires for 1703 children were completed and returned to the department (871F, 51.1%; 832M, 48.9%). The prevalence of nocturnal enuresis for females was 10.6%, for males it was 16.9% and the overall prevalence was 13.7%. The prevalence of nocturnal enuresis decreased with age. Enuresis nocturna was found to be more common in children with a family history of bedwetting (76.5%). Deep sleeping, poor toilet habits and low educational level of the family were associated with enuresis. Consanguineous marriage did not influence the incidence of enuresis nocturna. There was no difference between enuretics and nonenuretics with reference to breastfeeding, being firstborn or being right- or left-handed. In our opinion, enuresis is an important problem for both families and children in Turkey for which specific guidelines should be developed. Various methods have been tried in the treatment of enuresis because of its multi-factorial aetiology. Child, family and physician co-operating together achieve the best help to both child and family.

Low levels of high density lipoprotein cholesterol in Turkish children: an important risk factor.

In Turkish adults, the incidence of coronary artery disease (CAD) has been found to be high. However, no detailed lipid, or lipoprotein data of children are available from Turkey. The present study was designed to define the borderline lipid and lipoprotein levels of sera in 397 healthy children (aged 5-14 years; 206 boys and 191 girls). Mean levels of total cholesterol (TC), triglyceride (TG), high- and low-density lipoprotein cholesterol (HDL-C and LDL-C, respectively) were found to be 150, 79, 46.7, and 87.6 mg/dL, respectively, for boys, and 152, 77.5, 46.3 and 90.5 mg/dL, respectively, for girls. Lipids and lipoproteins did not show any significant correlation with age and body mass index (BMI), except for TG in boys in whom TG levels were positively correlated with age and BMI. There were no significant differences in lipid and lipoprotein levels between boys and girls. As in the Turkish adult population, serum HDL-C levels of Turkish children were profoundly low on international comparison. Twenty-three (53%) of 43 children with low HDL-C level (< or = 35 mg/dL) had abnormal ratios of TC/HDL-C (> or = 5) and/or LDL-C/HDL-C (> or = 4.5), whereas only 13 (3.7%) of the remaining 354 children with a HDL-C level less than 35 mg/dL had abnormal ratios of TC/HDL-C (> or = 5) and/or LDL-C/HDL-C (> or = 4.5). The low levels of HDL-C in Turkish children may be associated with the high incidence of CAD in the Turkish adult population.

Should children with infection be tested for lipid, lipoprotein and apolipoprotein?

The lipid profile is known to alter in patients with infection, but there has not been a study of the apolipoprotein levels in serum of otherwise healthy children during infection. Lipids, lipoproteins, apolipoproteins A-1 and B and lipoprotein (a) were evaluated prospectively in 31 consecutive children, aged 4-15 years, who were admitted to the hospital with bacterial pharyngitis. The degree of dyslipidemia associated with bacterial pharyngitis was assessed using each child as his/her own control and by comparison with 79 healthy children who had not had an infection during the past 3 months. Serum total cholesterol, high-density lipoprotein cholesterol, low-density lipoprotein cholesterol, apolipoprotein A-1 and apolipoprotein B levels were significantly decreased during the symptomatic phase of the disease, whereas the serum triglyceride level was slightly elevated. Serum lipoprotein (a) concentration did not change significantly. In conclusion, it is suggested that serum lipids, lipoproteins and apolipoproteins should not be assessed during infection because of the possible transient changes of these parameters during infection or inflammation.

The effect of cigarette smoking during pregnancy on cord blood lipid, lipoprotein and apolipoprotein levels.

We examined the relationship between maternal smoking during pregnancy and serum lipid, lipoprotein and apolipoprotein levels in newborns. Serum concentrations of total cholesterol, triglyceride, high density lipoprotein cholesterol, low density lipoprotein cholesterol, apolipoprotein A-1, apolipoprotein B and lipoprotein (a) were assessed in blood samples from 38 mothers who were smokers and their newborns obtained at delivery and compared to blood sample from 42 nonsmokers and their newborns. As compared with newborns of nonsmoker mothers, newborns of smoker mothers showed a lower mean level of high density lipoprotein cholesterol (21 versus 26 mg/dl, p < 0.01), a higher total cholesterol to high density lipoprotein cholesterol (4.7 versus 3.7, p < 0.01), a higher low density lipoprotein cholesterol to high density lipoprotein cholesterol ratios (3.2 versus 2.3, p < 0.05), a lower mean level of apolipoprotein A-1 (105 versus 129 mg/dl, p < 0.01) and a higher apolipoprotein B to apolipoprotein A-1 ratio (0.44 versus 0.3, p < 0.01). These parameters were also different between smoker and nonsmoker mothers. There were no significant differences in TC, TG, LDL-C, Apo B and Lp (a) values between the two newborn groups. These data suggest that maternal smoking during pregnancy markedly affects lipid metabolism in the fetus.

Increased serum copper and decreased serum zinc levels in children with iron deficiency anemia.

In order to evaluate serum copper and zinc status in children with iron deficiency anemia (IDA), 60 children with IDA aged 1-14 yr and 64 healthy children as controls aged 1-14 yr were included the study. Serum copper levels were higher in children with IDA (189 +/- 49 micrograms/dL) than those of controls (163 +/- 37 micrograms/dL) (p = 0.001). Serum zinc levels were lower in the patient group (109 +/- 59 micrograms/dL) than those of control subjects (135 +/- 56 micrograms/dL) (p = 0.017). In addition, there were statistically significant negative correlations between hematological parameters and serum copper levels in the patient group, but not in controls. No correlation between hematological parameters and serum zinc levels were found in both patient and control groups, except positive correlation between mean corpuscular volume (MCV) and serum zinc level in patients. It was concluded that at the time of managing children with IDA, zinc deficiency must be borne in mind and if necessary treatment should be initiated with zinc.

Effects of passive exposure to tobacco, socioeconomic status and a family history of essential hypertension on lipid profiles in children.

There is abundant evidence that the atherosclerotic process begins in childhood. Dyslipidemia is a major risk factor for atherosclerosis in adults and children. In the present study, we measured serum lipoprotein concentrations in 194 healthy children aged between 4 to 14 years. Children were grouped according to the socioeconomic status of the families, family history of essential hypertension and passive tobacco exposure. The values of total cholesterol, low density lipoprotein cholesterol and the ratio of total cholesterol/high density lipoprotein cholesterol in the low socioeconomic group were found to be significantly higher than the values obtained for the middle-high socioeconomic group. The values of total cholesterol, low density lipoprotein cholesterol, the ratio of total cholesterol/high density lipoprotein cholesterol and low density lipoprotein cholesterol/high density lipoprotein cholesterol in the passive smoker group were found to be significantly higher than those of the nonsmoker group. But, the socioeconomic level in the passive smoker group was found to be significantly lower than that of the nonsmoker group, and therefore, the impact of passive smoking on the serum lipids in children was related to socioeconomic status. A significant difference in terms of blood lipid fractions between the groups with and that without a family history of essential hypertension was not found. These results suggest that passive smoking and lower socioeconomic status are important risk factors for cardiovascular heart disease, while a positive family history of essential hypertension is not an important risk factor.

Evaluation of micronuclei in exfoliated urothelial cells and urinary thioether excretion of smokers.

Mutagens are present in large quantities in the urine of cigarette smokers, thus, their urothelial cells may represent a possible target for absorbed and excreted mutagens. Our aim is to validate the micronucleus (MN) test in exfoliated urothelial cells obtained from urine samples of cigarette smokers. The urinary thioether (UT) test is also carried out on the same individuals in order to find out whether there is any correlation between these two end-points. The mean (+/- SE) MN frequency and UT determination is 1.93 (+/- 0.11)% and 9.71 (+/- 1.61) mmol SH/mol creatinine for 23 smokers, and 0.66 (+/- 0.05)% and 4.20 (+/- 0.56) mmol SH/mol creatinine for 20 nonsmokers. Our results show a higher frequency of micronucleated cells (p < 0.001) and higher excretion of UTs (p < 0.05) in smokers as compared to nonsmokers. Concentrations of UTs and MN frequencies increased with tobacco consumption. The MN frequencies showed only a marginal increase, not significant (p > 0.05), after passive smoking compared to nonsmoking values. There was no significant correlation between MN frequencies and UTs, either in smokers (r = 0.164, p > 0.05) or in nonsmokers (r = -0.018, p > 0.05). Our data demonstrate tobacco-induced chromosome damage in bladder tissue consistent with increased risk of cancer at this site among smokers.