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Biomedical subjects

E Cardo

Publications and source records attributed to E Cardo.

16 recordsLinked to original sources
PubMed2005

[The prevalence of attention deficit hyperactivity disorder].

INTRODUCTION: Hyperactivity is a common, genetically-based disorder in childhood in which a number of neurological and psychological factors that give rise to attentional disorders, impulsiveness and motor overactivity are involved. DEVELOPMENT: The prevalence rate of attention deficit hyperactivity disorder (ADHD) is a controversial matter. Although the DSM-IV gives an interval of between 3 and 5%, which is probably the value that is most widely accepted by the scientific community, there is in fact a very high degree of variability. According to different authors, an interval of 2-30% is obtained in the general population. In Anglo-Saxon countries the most commonly accepted prevalence of this entity is 5%, but few studies have been conducted in our country. In an epidemiological study with a community-based sample extracted by multistage, stratified sampling in school-age children on the island of Majorca, the estimated prevalence of ADHD was 4.7%. The authors consider aspects concerning the prevalence of ADHD and subtypes by ages, sex, in both the clinical and community environments. CONCLUSIONS: The analysis of these data will enable us to compare the different evaluation methods used and to draw conclusions about screening and early detection methods.

Attention Deficit Disorder with Hyperactivity↗
PubMed2003

Organochlorine compounds and concentrations of thyroid stimulating hormone in newborns.

AIMS: To assess the association between prenatal exposure to organochlorine compounds and thyroid status in newborns from an area with high levels of hexachlorobenzene (HCB). METHODS: A total of 98 mother-infant pairs (83.1% of all children born during the period 1997-99 in a specific area polluted with HCB) were recruited. Levels of organochlorine compounds were measured in 70 cord serum samples. Concentrations of thyroid stimulating hormone (TSH) were measured in plasma of all newborns three days after birth. RESULTS: All newborns had concentrations of TSH within the range of normal reference values (<25 mU/l). Dichlorodiphenyl dichloroethylene (p,p'DDE), beta-hexachlorocyclohexane (beta-HCH), polychlorinated biphenyl (PCB) 138 and 118 were related to higher concentrations of TSH, although only significant for beta-HCH. Levels of HCB were not associated with TSH. CONCLUSIONS: Although this community is highly exposed to HCB, no association was found between this organochlorine and TSH concentrations at birth.

Air Pollutants↗
PubMed2002

Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families.

A biochemical variant of argininosuccinate lyase deficiency, found in five individuals, is introduced. In comparison to classical patients, the variant cases of argininosuccinate lyase deficiency were characterized by residual enzyme activity as measured by the incorporation of [14C]citrulline into proteins. The five patients of different ethnic backgrounds presented with relatively mild clinical symptoms, variable age of onset, marked argininosuccinic aciduria and severe, but not complete, deficiency of argininosuccinate lyase. [14C]Citrulline incorporation into proteins, which is completely blocked in classical argininosuccinic aciduria, was only partially reduced in fibroblasts of these patients. Further investigation showed that previous standard conditions of the assay were not optimal. Higher concentrations of citrulline in the incubation medium strongly stimulated 14C incorporation in normal cells, but not in the patients; as a result, the relative incorporation level in the patients dropped to 6-28% compared to 18-75% of normal in the original procedure. Prenatal diagnosis was successfully performed in three of the families. Affected pregnancies were indicated by (partial) deficiency of [14C]citrulline incorporation in chorionic villi and/or increased levels of argininosuccinate in amniotic fluid. Analysis of the ASL gene in the five patients revealed a considerable allelic heterogeneity. Three novel mutations--R385C (2 patients), V178M and R379C--were detected in homozygous states, whereas one patient was compound heterozygous for the known mutations R193Q and Q286R. In conclusion, there are patients of different ethnic backgrounds who are characterized by residual activity of argininosuccinate lyase and who present with less severe clinical courses. In addition, we present an improved biochemical assay for accurate prenatal and postnatal diagnosis.

Adult↗
PubMed2000

Anti-epileptic drug treatment in children: hyperhomocysteinaemia, B-vitamins and the 677C-->T mutation of the methylenetetrahydrofolate reductase gene.

The aim of the study was to observe the influence of carbamazepine and valproic acid on plasma total homocysteine and B-vitamin status and the gene-drug interaction with the 677C-->T mutation of the methylenetetrahydrofolate reductase (MTHFR) gene. Plasma total homocysteine concentrations were determined in 136 epileptic children taking anti-epileptic drugs as monotherapy. Nutritional (folate, B12 and B6 vitamins) and genetic (MTHFR 677 C-->T) determinants of plasma homocysteine were studied in a random sample of 59 of the 136 epileptic children. Total homocysteine concentrations were significantly increased (p < 0.05) and folate and vitamin B6 levels were significantly decreased (p < 0.01) in the children taking anti-epileptic drugs compared with our reference ranges. In the carbamazepine-treated group, significantly positive correlation was found between duration of treatment and homocysteine concentration (p < 0.01). Homocysteine concentrations showed a significantly negative correlation with vitamin levels (folate: p = 0.002, and vitamin B12: p = 0.017) only in the carbamazepine treated group. In children treated with carbamazepine up to 3 years, total homocysteine concentration correlated negatively only with folate (p = 0.003), while in patients treated for more than 3 years, total homocysteine correlated negatively only with vitamin B12 values (p = 0.007). The lowering action of carbamazepine treatment on folate levels seems to be associated with hyperhomocysteinaemia, which seems to be related to the homozygous condition for the MTHFR 677C-->T mutation. Valproic acid treatment, although also associated with hyperhomocysteinaemia, only shows a lowering effect on vitamin B6 levels, which seems to be independent of the MTHFR genotype.

Adolescent↗
PubMed2000

Children with stroke: polymorphism of the MTHFR gene, mild hyperhomocysteinemia, and vitamin status.

The aim of this study was to investigate a possible association among the thermolabile polymorphism, nucleotide 677 cytosine to thymidine point mutation (677 C-->T) of the methylenetetrahydrofolate reductase (MTHFR) gene, hyperhomocysteinemia, serum folate, vitamins B12 and B6, and stroke in children. Allele and genotype frequencies for the 677 C-->T polymorphism in 21 children with stroke and 28 healthy children of the same age were studied. No differences in allelic frequency were detected between the two populations. However, the prevalence of homozygous 677 C-->T was doubled in the stroke population (28.6%) compared to the healthy group (14.3%). Total plasma homocysteine (tHcy) levels were significantly increased in children aged 2 months to 15 years with stroke compared to reference values. No association was observed between the homozygous genotype (T/T) and hyperhomocysteinemia, nor between the T/T genotype and low folate levels (below the 95th percentile) in this group of patients. Vitamin concentrations in patients were not significantly different from reference values. Significant negative correlations were found between tHcy and folate and between tHcy and cobalamin, but not between tHcy and B6 concentrations. In summary, a higher prevalence of hyperhomocysteinemia and the 677 C-->T polymorphism were observed in children with stroke, but were not always associated. The systematic study of both abnormalities in children with stroke is recommended, so that hyperhomocysteinemia of any genetic origin can be corrected with vitamin supplementation. Moreover, the 677 C-->T genotype is a strong factor for predisposition to hyperhomocysteinemia and recurrent risk of stroke that might also be prevented with folate supplementation.

Adolescent↗
PubMed1999

Macrocephaly and dilated Virchow-Robin spaces in childhood.

We report two children who presented with progressive macrocephaly and dilated Virchow-Robin spaces on magnetic resonance imaging. Follow-ups of 1-4 years and 5-9 years, respectively, showed normal neuro-developmental progress. We suggest that dilated Virchow-Robin spaces in patients with macrocephaly is a benign association.

Abnormalities, Multiple↗
PubMed1999

Evaluation of hyperhomocysteinaemia in children with stroke.

Hyperhomocysteinaemia is associated with an increased risk of arterial vascular disease and thrombosis in adults. Our aim was to study the association of hyperhomocysteinaemia and stroke in children. Since some patients who had suffered a stroke developed seizures and received treatment with anti-epileptic (antifolate) drugs, we also examined the possible interaction between anti-epileptic drugs and hyperhomocysteinaemia. Plasma total homocysteine was measured in 68 children with stroke (23 of the 68 were taking anti-epileptic drugs) and 100 children undergoing anti-epileptic treatment but without history of stroke, and we compared the values with our reference values for similar ages (n = 195). Total homocysteine was determined by high profile liquid chromatography with fluorescence detection. Hyperhomocysteinaemia was defined as a homocysteine concentration above the 95th percentile for the reference values. Significant differences were found in total homocysteine values of children with stroke and those taking anti-epileptic drugs compared with our reference values for similar ages, except for the adolescent group. Total homocysteine values above the 95th percentile for the reference values were found in 36% of patients with stroke and 28% of children on anti-epileptic treatment. Total homocysteine concentrations in the 23 patients with both stroke and anti-epileptic drug treatment were similar to those of untreated patients with stroke in all age groups. In summary, systematic screening for hyperhomocysteinaemia should be included in the protocol to investigate the aetiology of stroke, even in paediatrics. Anti-epileptic treatment in children with stroke may be responsible for the mild hyperhomocysteinaemia observed in some of them. A dietary supplement of folate may be of benefit in children with stroke and in patients taking anti-epileptic drugs.

Adolescent↗
PubMed1999

Fatal haemorrhagic infarct in an infant with homocystinuria.

Thrombotic and thromboembolic complications are the main causes of morbidity and mortality in patients with homocystinuria. However, it is unusual for thrombosis and infarction to be the presenting feature leading to investigation for homocystinuria and cerebrovascular lesions in the first year of life. We describe a previously healthy 6-month-old infant who presented with a large middle-cerebral-artery territory infarction and died of massive brain swelling. Homocystinuria due to cystathionine beta-synthase (CBS) deficiency was diagnosed by metabolite analysis and confirmed by enzymatic activity measurement in a postmortem liver biopsy. Homocystinuria should be considered in the differential diagnosis of venous or arterial thrombosis, regardless of age, even in the absence of other common features of the disease. We recommend systematic metabolic screening for hyperhomocysteinemia in any child presenting with vascular lesions or premature thromboembolism.

Brain Edema↗
PubMed1997

[The role of resistance to C active protein (R-APC) in a pediatric stroke].

INTRODUCTION: Activated protein C resistance is a recently identified thrombophylic state which results from a mutation in the factor V gene and has been shown to be an important risk factor for peripheral venous thrombosis. We report a case of paediatric stroke in whom we have identified APC resistance. CLINICAL CASE: A boy presented acutely at the age of 6 years with a severe right sided headache, vomiting, unsteadiness and drowsiness which worsened over a period of 40 hours. Prior to this episode, he was neurologically and developmentally normal except for occasional headaches. CT showed low attenuation in the left cerebellar hemisphere, and occipital lobe associated with acute hydrocephalus. Excision biopsy of the left cerebellar cortex revealed inflammation and possible infarction. Although he remained in a 'locked-in' state with a flaccid quadriparesis for six months, he improved and was left with a left side hemiplegia, multiple cranial nerve palsies and a visual field defect. He represented at the age of thirteen years with transient ischaemic attacks and was found be heterozygous for the factor V Leiden mutation. Since he has been warfarinised, his symptoms have improved. CONCLUSIONS: Although cerebellar stroke in childhood is rare, it has been underdiagnosed in the past. As recurrence is common, patients should be fully investigated and followed up long term. Screening for new factor such as APC-resistance is recommended.

Adolescent↗
PubMedDate not supplied

Levels of hexachlorobenzene and other organochlorine compounds in cord blood: exposure across placenta.

Hexachlorobenzene (HCB) is an organochlorine compound widespread in the environment, highly lipophilic, that accumulates in biological systems. It has been suggested that it should be classified as a dioxin-like compound. Newborns are exposed to organochlorine compounds across the placenta and through breastfeeding. Although HCB is one of the most common organochlorine compounds, the transplacental transference of HCB from mother to fetus during pregnancy has been scarcely documented. This study reports the levels of HCB, dichlorodiphenyl trichloroethane (DDT) and its metabolite p,p'DDE, polychlorinated biphenyls (PCBs), and beta-hexachlorocyclohexane (beta-HCH) in 72 maternal blood samples at delivery and in 69 cord blood samples, from which 62 corresponded to mother infant pairs born between May 1997 and September 1999 in a rural area highly exposed to HCB. Results show that all newborns presented detectable levels of HCB, PCBs, and p,p'DDE, and, to a lesser extent, of beta-HCH, the HCB levels being the highest. The geometric mean of HCB was 1.1 ng/ml, ranging from 0.3 to 5.7 ng/ml. Concentrations of HCB levels in cord blood (log ng/ml) were positively associated with concentrations in maternal blood (log ng/ml) (coefficient = 0.45, P < 0.01). Gestational age was not associated with the transplacental transfer of HCB. Maternal p,p'DDE and beta-HCH levels were also associated with newborn levels, but levels of PCBs were not. We conclude that HCB, similar to other organochlorinated compounds, has a transplacental transfer.

Adult↗
PubMedDate not supplied

[Risk factors in cerebrovascular disease in childhood].

INTRODUCTION: The etiopathogenesis of cerebrovascular diseases in paediatrics is little known and very varied. Review of the literature gives little practical information about how to investigate a paediatric patient who presents with an acute cerebrovascular illness. OBJECTIVES: To identify the risk factors for cerebrovascular accidents in the paediatric age group in our setting and establish guidelines as to how best to act. PATIENTS AND METHODS: A retrospective study was made of the patients admitted to the Hospital San Joan de Deú in Barcelona between January 1984 and December 1995 with the diagnosis of ischemic or hemorrhagic cerebral infarct. RESULTS: A total of 141 cases were identified. Sixty specific causes (43.7%) were detected, of which cardiopathies made up the biggest etiological group. Risk factors for cerebrovascular disease were found in 66% of the cases. The risk factors most often identified were association with non-specific (22) and specific (varicella: 7 cases) viral infections; moderate dehydration (10); mild head injuries (10) and situations of stress (9). There were prethrombotic factors in 32.8% of the patients and anaemia in 29%. The high percentage of the anti Cytomegalovirus (67.1%) was of doubtful significance, and the percentage rose to 82.8% in the patients who died (29/35). In this study the role of hyperhomo-cysteinemia and resistance to C activated protein could not be assessed. CONCLUSIONS: In this study we identified the risk factors for cerebrovascular disease in the paediatric age group of our population. Stroke in the paediatric age group is probably due to a combination of several risk factors which will need structured protocols for identification. It is important to recognize these causes so as to plan strategies for action during the acute phase and to prevent recurrence, as are currently available to the adult population.

Acute Disease↗
PubMedDate not supplied

[Estimation of the prevalence of attention deficit hyperactivity disorder among the standard population on the island of Majorca].

AIM: To determine the rate of prevalence of attention-deficit/ hyperactivity disorder (ADHD) in children of school age (6-11 years) in the Island of Mallorca. SUBJECTS AND METHODS: The epidemiological study was conducted using a community sample extracted by means of multi-stage stratified sampling according to areas (rural, city and touristy) and schooling (public, private and concerted) and consisted in 1,509 children of both sexes. The ADHD Rating Scales-IV (ADHD RS-IV) for home and school setting were used to collect data. The optimal approach to do a diagnostic evaluation, according with the literature, was using a cut-off point of 90 centil. RESULTS: The estimated prevalence of ADHD was 4.57% (CI at 99%: 3.0-5.8%) and we also obtained 1.26% for the hyperactive subtype, 1.06% for the disattentional subtype, and 2.25% for the combined subtype. Contrary to what was expected, prevalence was higher for females but no statistically significant. There were no statistically significant differences between levels, schools or areas. CONCLUSIONS: The estimates for prevalence found in this study are consistent with those reported in the literature (between 3-5%). Using the ADHD rating scale which has different cut-off point regarding age, sex and setting and the fact that it was a poblational based study could explain the higher prevalence in the females. We propose a normalization of the scales in our area in other to confirm our findings.

Attention Deficit Disorder with Hyperactivity↗