Györgyi Csábi

Presence of metabolic cardiovascular syndrome in obese children.

Abstract The aim of the present study was to investigate the aggregation of cardiovascular risk factors (hyperinsulinaemia, impaired glucose tolerance, dyslipidaemia, and hypertension) in 180 (77 female, 103 male) obese and 239 control children. Blood glucose, serum insulin and lipid levels were determined from blood samples taken after an overnight fast. Oral glucose tolerance tests were performed and blood glucose concentrations were monitored. The body mass index, body fat (on the basis of skinfold measurements), lean body mass and waist/hip ratio were calculated and blood pressure was measured five times in all subjects. It was shown that only 14.4% of obese children were free from any risk factors, in contrast to 79.1% of the control children. Four risk factors (metabolic cardiovascular syndrome) were found in 8.9% of the obese children (8.7% in males and 9.l % in females) while none could be detected in controls. Considerable differences were also detected in the prevalence of one, two or three risk factors between control and obese children. Patients with the metabolic cardiovascular syndrome could not be characterized by any of the investigated anthropometric characteristics, but the duration of obesity was significantly longer in these children. Conclusion Potential risk factors for cardiovascular diseases already tend to cluster in childhood and they are strongly associated with obesity. Our observations suggest that the development of the metabolic cardiovascular syndrome has its origin in childhood.

Effects of prenatal fish-oil and 5-methyltetrahydrofolate supplementation on cognitive development of children at 6.5 y of age

BACKGROUND The influence of prenatal long-chain polyunsaturated fatty acids (LC-PUFAs) and folate on neurologic development remains controversial. OBJECTIVE The objective was to assess the long-term effects of n-3 (omega-3) LC-PUFA supplementation, 5-methyltetrahydrofolate (5-MTHF) supplementation, or both in pregnant women on cognitive development of offspring at 6.5 y of age. DESIGN This was a follow-up study of the NUHEAL (Nutraceuticals for a Healthier Life) cohort. Healthy pregnant women in 3 European centers were randomly assigned to 4 intervention groups. From the 20th week of pregnancy until delivery, they received a daily supplement of 500 mg docosahexaenoic acid (DHA) + 150 mg eicosapentaenoic acid [fish oil (FO)], 400 μg 5-MTHF, or both or a placebo. Infants received formula containing 0.5% DHA and 0.4% arachidonic acid (AA) if they were born to mothers receiving FO supplements or were virtually free of DHA and AA until the age of 6 mo if they belonged to the groups that were not supplemented with FO. Fatty acids and folate concentrations were determined in maternal blood at weeks 20 and 30 of pregnancy, at delivery, and in cord blood. Cognitive function was assessed at 6.5 y of age with the Kaufman Assessment Battery for Children (K-ABC). RESULTS We observed no significant differences in K-ABC scores between intervention groups. Higher DHA in maternal erythrocytes at delivery was associated with a Mental Processing Composite Score higher than the 50th percentile in the offspring. CONCLUSION We observed no significant effect of supplementation on the cognitive function of children, but maternal DHA status may be related to later cognitive function in children. This trial was registered at clinicaltrials.gov as NCT01180933.

Polyunsaturated fatty acids in plasma lipids of obese children with and without metabolic cardiovascular syndrome.

Previously we reported significantly higher values of γ-linolenic acid (GLA, 18∶3n−6), dihomo-γ-linolenic acid (DHGLA, 20∶3n−6), and arachidonic acid (20∶4n−6) in plasma lipid classes in obese children than in nonobese controls. In the present study, fatty acid composition of plasma phospholipids (PL) and sterol esters (STE) was determined by high-resolution capillary gas-liquid chromatography in obese children with an without metabolic cardiovascular syndrome [MCS: defined as simultaneous presence of (i) dyslipidemia, (ii) hyperinsulinemia, (iii) hypertension, and (iv) impaired glucose tolerance] and in nonobese controls. Fatty acid composition of PL and STE lipids did not differ between obese children without MCS and controls. Obese children with MCS exhibited significantly lower linoleic acid (LA, 18∶2n−6) values in PL (17.43 [2.36], %wt/wt, median [range from the first to the third quartile]) than obese children without MCS (19.14 [3.49]) and controls (20.28 [3.80]). In contrast, PL GLA values were significantly higher in obese children with (0.13 [0.08]) than in those without MCS (0.08 [0.04]), whereas STE GLA values were higher in obese children with MCS (1.04 [0.72]) than in controls (0.62 [0.48]). DHGLA values in PL were significantly higher in obese children with MCS (4.06 [0.74]) than in controls (2.69 [1.60]). The GLA/LA ratio was significantly higher, whereas the AA/DHGLA ratio was significantly lower in obese children with MCS than in obese children without MCS and in controls. In this study, LA metabolism was affected only in obese children with but not in those without MCS. In obese children with MCS, δ6-desaturase activity appeared to be stimulated, whereas δ5-desaturase activity appeared to be inhibited. Disturbances in LA metabolism may represent an additional health hazard within the multifaceted clinical picture of MCS.

Minor physical anomalies in affective disorders. A review of the literature

BACKGROUND The increased frequency of MPAs may be external markers of abnormal brain development in affective disorders. METHODS A MEDLINE, psychInfo and Web of Science search was evaluated to collect all publications on the prevalence of minor physical anomalies in bipolar affective disorder and unipolar major depression. AIMS As reports on the prevalence of MPAs in affective disorders were controversial, were based on highly different number of patients and were evaluated by the use of scales with different sensitivities, we considered as important to review the current state of knowledge and to recommend directions to further research. RESULTS 14 publications on 12 studies were found after a careful literature search. 5 studies have dealt with the prevalence of MPAs in bipolar affective disorder, 3 have reported on examinations among patients with unipolar major depression, while 5 publications on 3 studies combined patients with bipolar affective disorder, schizoaffective disorder and unipolar major depression. 1 study was published on the prevalence of MPAs among mood disorders, without the differentiation of the data of patients with bipolar affective disorder and unipolar major depression. LIMITATIONS Few studies with relatively small size were published, there is no data on the distinction between bipolar I and bipolar II disorders. CONCLUSION The reviewed data suggest a higher probability of the role of an aberrant neurodevelopment in bipolar affective disorder and a smaller in unipolar major depression.

Transverse Myelitis as a Rare, Serious Complication of Mycoplasma pneumoniae Infection

We report on the first published case of a Mycoplasma pneumoniae-associated transverse myelitis appearing in childhood and leading to persistent paraplegia and bowel and bladder dysfunctions. Magnetic resonance imaging of the spinal cord indicated extensive transverse myelitis extending from T(5)-T(12). A repeated scan established spinal cord atrophy in the affected area. Various therapies (methylprednisolone pulse therapy, plasmapheresis, and roxythromycine) produced no clinical effect.

Mutational Spectrum of Smith-Lemli-Opitz Syndrome Patients in Hungary

Smith-Lemli-Opitz (SLO) syndrome is an autosomal recessive disorder characterized by multiple congenital abnormalities and mental retardation. The condition is caused by the deficiency of 7-dehydrocholesterol reductase (DHCR7) which catalyzes the final step in cholesterol biosynthesis. Biochemical diagnosis is based on increased concentration of 7-dehydrocholesterol (7-DHC) in the patient serum. Both life expectancy and quality of life are severely affected by the disease. The estimated prevalence of SLO syndrome ranges between 1:20,000 and 1:40,000 among Caucasians. Although the mutational spectrum of the disease is wide, approximately 10 mutations are responsible for more than 80% of the cases. These mutations show a large interethnic variability. There are no mutation distribution data from Hungary to date. Thirteen patients were diagnosed with SLO syndrome in our laboratory. As first-line tests, serum 7-DHC and total cholesterol were measured and, in positive cases, molecular genetic analysis of the DHCR7 gene was performed. Complete genetic background of the disease could be identified in 12 cases. In 1 case only 1 mutation was detected in a heterozygote form. One patient was homozygous for the common splice site mutation c.964–1G>C, while all other patients were compound heterozygotes. One novel missense mutation, c.374A>G (p.Tyr125Cys) was identified.

Minor physical anomalies in Tourette syndrome

- Background and Objectives: The prevalence of minor physical anomalies (prenatal errors of morphogenesis) was evaluated in patients with Tourette syndrome to get indirect data on the possible role of aberrant neurodevelopment in the aetiology of Tourette syndrome. No published study is known on the minor physical anomaly prevalence in this recently intensively investigated disorder, and connecting to current opinions on a possible role of aberrant neurodevelopment in Tourette syndrome it seems important to introduce trait marker research focusing on brain maldevelopment. Methods: A scale developed by Mehes 1,2 was used to detect the presence or absence of 57 minor physical anomalies in 24 patients with Tourette syndrome and in 24 matched controls 21 boys and 3 girls were evaluated, the age of onset of illness among the Tourette patients was between the age of 5 and 13. Results: The mean value of all minor physical anomalies was significantly higher among the group of patients compared with controls. (Mann - Whitney U - value: 49, 50, -Z = - 4,92, p = 0,001) In the case of 7 minor physical anomalies we could demonstrate statistically significant differences between the Tourette and the control sample. In the case of 4 minor malformations (supernumary nipples, prominent forehead, tongue with smooth and rough spots, double posterior hair whorl) and of 3 phenogenetic variants (anti-mongoloid slant, inner epicanthic folds, high arched palate) a significantly higher frequency was observed compared with control individuals. However after Bonferroni correction for the Fishers Exact test, only double posterior hair whorl and high arched palate showed a significantly higher frequency compared to control children (p = 0.001). Conclusions: The overrepresentation of minor physical anomalies in Tourette syndrome can strongly support the view that this disorder is related to pathological factors operating early in development.

Antipsychotics and Breast-Feeding

Many women with mental illnesses would like to breast feed their infants. In light of the limited but rapidly growing data, it seems that in some cases the possible physiological and psychological benefits may outweigh putative risks.All antipsychotics are secreted into breast milk but the concentrations and effects vary. There is a subgroup of mothers with mental illnesses who want to breast feed their infants and who are receiving a single established antipsychotic drug (principally, haloperidol or chlorpromazine) at the lowest possible clinically effective dose. As a tentative conclusion, this group could experience benefits from being able to nurse which would outweigh the risk of exposing their babies to very small amounts of antipsychotic drugs. However, larger study groups with longer follow-up periods would be required to confirm this tentative conclusion.Those mothers who require 2 or more antipsychotic drugs simultaneously and those taking one drug, but at the upper end of the recommended dose range, should not be advised to breast feed. Safety considerations suggest that women taking atypical antipsychotics would be advised not to breast feed because of the limited experience with these agents.When mothers taking antipsychotic drugs do nurse, it is desirable to monitor drug concentrations in breast milk and in the infants themselves. Close monitoring of the infant is essential.

Antipsychotics and breast-feeding: a review of the literature.

Many women with mental illnesses would like to breast feed their infants. In light of the limited but rapidly growing data, it seems that in some cases the possible physiological and psychological benefits may outweigh putative risks. All antipsychotics are secreted into breast milk but the concentrations and effects vary. There is a subgroup of mothers with mental illnesses who want to breast feed their infants and who are receiving a single established antipsychotic drug (principally, haloperidol or chlorpromazine) at the lowest possible clinically effective dose. As a tentative conclusion, this group could experience benefits from being able to nurse which would outweigh the risk of exposing their babies to very small amounts of antipsychotic drugs. However, larger study groups with longer follow-up periods would be required to confirm this tentative conclusion. Those mothers who require 2 or more antipsychotic drugs simultaneously and those taking one drug, but at the upper end of the recommended dose range, should not be advised to breast feed. Safety considerations suggest that women taking atypical antipsychotics would be advised not to breast feed because of the limited experience with these agents. When mothers taking antipsychotic drugs do nurse, it is desirable to monitor drug concentrations in breast milk and in the infants themselves. Close monitoring of the infant is essential.

Minor physical anomalies are more common among the first-degree unaffected relatives of schizophrenia patients – Results with the Méhes Scale

Minor physical anomalies are external markers of abnormal brain development,so the more common appearance of these signs among the relatives of schizophrenia patients can confirm minor physical anomalies as intermediate phenotypes. The aim of the present study was to investigate the rate and topological profile of minor physical anomalies in the first-degree unaffected relatives of patients with schizophrenia compared to matched normal control subjects. Using a list of 57 minor physical anomalies (the Méhes Scale), 20 relatives of patients with the diagnosis of schizophrenia and as a comparison 20 matched normal control subjects were examined. Minor physical anomalies were more common in the head and mouth regions among the relatives of schizophrenia patients compared to normal controls. By the differentiation of minor malformations and phenogenetic variants, we have found that only phenogenetic variants were more common in the relatives of schizophrenia patients compared to the control group, however individual analyses showed, that one minor malformation (flat forehead) was more prevalent in the relative group. The results can promote the concept, that minor physical anomalies can be endophenotypic markers of the illness.