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Biomedical subjects

J Eirís-Puñal

Publications and source records attributed to J Eirís-Puñal.

At least 19 recordsLinked to original sources
PubMed2006

[Aspects concerning behavioural development and socialisation and how they are linked to attention deficit hyperactivity disorder].

INTRODUCTION: Despite their importance, little attention has been given to the recognition of early markers of hyperactivity in the scientific literature and in everyday practice it can be difficult to separate some of the physiological behaviours displayed by older babies or preschool infants from pathological processes such as attention deficit hyperactivity disorder (ADHD), specific language impairment, autistic spectrum disorders, conduct disorders or bad habits with regard to discipline within the family context. DEVELOPMENT: Knowledge of some of the key points in behavioural development and sociability in children can help reach a correct interpretation of the manifestations observed in this age group. The development of linguistic competencies, a feeling of what is right and what is wrong, the development of an awareness of oneself and the capacity to infer that is established as progress is made in language are some of the keys to proper behavioural development and socialisation. The gene DRD4 is expressed in the prefrontal cortex and has been implicated in some subtypes of ADHD, as well as being linked to a novelty-seeking personality. Recent genetic evidence supports the notion of an association between certain polymorphisms in the DRD4 gene with resistant or disorganised bonds at early ages. CONCLUSIONS: The detection of several dysfunctional signs related to inadequate self-control that appear during behavioural development and socialisation may provide early keys to the future development of ADHD.

Attention Deficit Disorder with Hyperactivity↗
PubMed2005

[Benign seizures associated with mild gastroenteritis: apropos of two cases].

INTRODUCTION: The occurrence of benign seizures in association with viral gastroenteritis without dehydration or fever is well recognized in Asia, but it is virtually unknown in other parts of the world. This is a benign process that does not lead to a greater risk of epilepsy or developmental deterioration. CASE REPORTS: We describe two infants who were admitted to our department over a 1-year period with acute convulsions and mild gastroenteritis. The seizures were brief and did not recur after the first day. In both cases the outcome was excellent. CONCLUSIONS: This entity does not appear exclusively in Asia and its frequency may have been underestimated in Spain. This diagnosis should be borne in mind in patients with gastroenteritis and seizures to avoid intensive and/or prolonged antiepileptic treatment.

Child, Preschool↗
PubMed2003

Nutritional status of mentally retarded children in north-west Spain. I. Anthropometric indicators.

AIM: To evaluate the nutritional status of mentally retarded children in the region of Galicia in north-west Spain, on the basis of anthropometric variables. METHODS: The following variables were determined in a sample of 128 mentally retarded children (81 M, 47 F): birthweight, bodyweight, height/length, head circumference, mid-arm circumference, mid-arm muscle circumference, triceps skinfold thickness, subscapular skinfold thickness, arm area, arm muscle area, arm fat area, arm lean-to-fat ratio, Shukla's nutrition index and Quetelet's body mass index (BMI). A preliminary statistical analysis indicated that most information content could be maintained considering only eight of these variables. A factor analysis of the resulting 8 x 128 (variables by subjects) data matrix was performed, identifying two factors (FA1 and FA2) that together explained 82% of total variance. Taking these factors as indicators of nutritional status, the data were analysed for possible effects of age, gender, socioeconomic and family environment, intelligence quotient (IQ), presence/absence of cerebral palsy, quality of diet, appetite and antiepileptic use. RESULTS: The analysis suggested that most subjects were in the normal nutrition range, but about 33% showed either borderline or definite malnutrition. Mean score on FA2 showed a significant negative correlation with age. Children with cerebral palsy had lower mean scores on both factors, and scores on both factors varied with IQ. Children with definite malnutrition had a significantly lower IQ than those in the normal nutrition range. Mean score on both factors varied with appetite and quality of diet. The mean FAI score of children from inland-rural areas was significantly lower than that of children from coastal or urban areas. Mean FA1 score increased with increasing age of the parents. The prevalence of obesity was 13% when obesity was defined on the basis of Shukla's nutrition index, and 19% when defined on the basis of FA1 score. CONCLUSION: Malnutrition as revealed by anthropometric variables occurs with a high prevalence among mentally retarded children. The prevalence increases with age, increasing IQ deficit and cerebral palsy.

Adolescent↗
PubMed2003

Nutritional status of mentally retarded children in northwest spain: II. Biochemical indicators.

AIM: To evaluate the nutritional status of mentally retarded children in the region of Galicia, northwest Spain, on the basis of serum biochemistry variables. METHODS: The following serum biochemistry variables were determined in a sample of 128 mentally retarded children (81 boys and 47 girls): albumin, prealbumin, retinol-binding protein, transferrin, ferritin, ceruloplasmin, iron, calcium, phosphorus, copper, total cholesterol, HDL cholesterol, LDL cholesterol, triglycerides, alkaline phosphatase, transaminases and carnitine. A preliminary statistical analysis indicated that most information content could be maintained taking into consideration only five of these variables. A factor analysis of the resulting 5 x 128 variables-by-subjects data matrix was then performed, identifying three factors (FB1, FB2 and FB3) that together explained 74% of total variance. Taking these factors as indicators of nutritional status, the data were then analysed for possible effects of age, gender, socioeconomic and family environment, IQ, presence/absence of cerebral palsy, quality of diet, appetite and use of antiepileptics. RESULTS: The analysis suggests that most subjects were in the normal nutritional range, but that about 37% showed either borderline or definite malnutrition. The FB1 score showed a significant, positive correlation with age, while FB2 score was negatively correlated with age. The FB1 score showed a significant positive correlation with socioeconomic class, and was significantly higher among children from inland-rural areas than among children from coastal or urban areas. The FB1 score was also positively correlated with parents' mean age. Finally, the results suggest that antiepileptic treatment with phenobarbital or diphenylhydantoin led to reductions in serum levels of calcium and phosphorus. CONCLUSION: Malnutrition as revealed by biochemical variables is highly prevalent among mentally retarded children, and the prevalence is affected by socioeconomic and family environment variables.

Child↗
PubMed2001

Usefulness of the head-upright tilt test for distinguishing syncope and epilepsy in children.

PURPOSE: Episodic loss of consciousness in children, whether or not associated with hypertonia or short-duration clonic movements, presents a diagnostic challenge to the pediatrician and child neurologist. We provide some evidence of the usefulness of the head-upright tilt test for investigating the causes of transient loss of consciousness in children, and for distinguishing between syncope, convulsive syncope, and epilepsy. METHODS: We studied nine children previously diagnosed as epileptic on the basis of compatible clinical events and epileptiform findings in routine EEGs who were treated over the long term with antiepileptic drugs, but whose clinical records suggested syncope or convulsive syncope rather than epilepsy on reevaluation. All subjects underwent head-upright tilt testing. RESULTS: The tilt-test result was positive in all nine cases, with the patients reporting the same symptoms as in the previously considered epileptic attacks. CONCLUSIONS: Inadequate histories and misuse/overinterpretation of EEG results often lead to misdiagnosis of epilepsy in children. The head-upright tilt test is a useful and reliable diagnostic technique, allowing syncopal events to be induced and evaluated under controlled conditions. In a subset of patients, it may help to distinguish epilepsy from simple or convulsive syncope.

Adolescent↗
PubMed2001

The relation between hyperventilation and pediatric syncope.

OBJECTIVE: The objective was to evaluate prospectively the role of hyperventilation in the development of neurocardiogenic syncope in children during head-upright tilt testing (HUTT). STUDY DESIGN: Tilt testing was performed in 34 children (mean age 10.6 years) with clinical suspicion of syncope. Respiratory rate and end-tidal carbon dioxide pressure were continuously monitored during HUTT. RESULTS: Tilt test was negative in 12 cases; 3 (25%) patients of this group exhibited hyperventilation any time during the test. In the remaining 22 cases the HUTT was positive, and 15 (68.2%) patients of this group exhibited hyperventilation at the onset of clinical symptoms and during syncope. In the positive HUTT group, the mean time elapsed from the tilt to the onset of syncope and the mean time elapsed from the onset of clinical symptoms to syncope (latency time) were significantly longer for patients who hyperventilated than for those who did not hyperventilate, (21.8 vs 11.5 minutes) (P =.002) and (78 vs 51 seconds) (P =.04), respectively. CONCLUSIONS: Spontaneous hyperventilation could play a relevant role in the pathophysiology of pediatric neurocardiogenic syncope, and it could point out a specific subtype of response to orthostatic stress in susceptible patients. We suggest the inclusion of capnography in tilt-test protocols could improve the assessment of syncope in children.

Adolescent↗
PubMed2001

Congenital hydranencephalic-hydrocephalic syndrome with proliferative vasculopathy: a possible relation with mitochondrial dysfunction.

We report the case of a fetus aborted at gestation week 20 because of hydranencephalic-hydrocephalic syndrome. The fetus was the third pregnancy of a nonconsanguineous couple whose first child exhibited congenital hydranencephalic-hydrocephalic syndrome associated with muscle histology findings consistent with mitochondrial cytopathy and deficiency of complexes III and IV of the respiratory chain and whose second pregnancy had terminated in an elective abortion on detection of progressive hydrocephalus at gestation week 19. The third pregnancy had a normal course according to obstetric and ultrasonography examinations performed at gestation weeks 5, 10, and 15, and negative results were obtained in standard serologic and polymerase chain reaction (PCR) tests for prenatal infections of the mother. However, the ultrasonography examination at gestation week 18 revealed hydrocephalus, in response to which the parents requested an abortion, which was performed at gestation week 20; the fetus was male and with no evident external malformations. Histopathologic studies of the brain and medulla oblongata revealed proliferative vasculopathy (glomeruloid vessels, intracytoplasmic inclusions, and microcalcifications) and intracytoplasmic inclusions in the voluntary muscle. Microbiologic and PCR tests of hepatic and spleen tissue were negative for prenatal infections. In view of the precedent of a sister with mitochondrial dysfunction, these findings raise the pos sibility that at least some cases of familial syndrome of congenital hydranencephalic-hydrocephalic syndrome with proliferative vasculopathy can be attributed to alterations in the mitochondrial respiratory chain.

Abortion, Induced↗
PubMed2000

Cerebral syncope in children.

We report a child with recurrent syncopal episodes who underwent head-up tilt testing according to a protocol that includes continuous and noninvasive measurement of brain oxygen saturation. We demonstrated significant cerebral hypoxemia during syncope without concomitant systemic hemodynamic disturbances. This response to head-up tilt test suggested the diagnosis of cerebral syncope.

Blood Pressure Determination↗
PubMed1999

Long-term treatment of children with epilepsy with valproate or carbamazepine may cause subclinical hypothyroidism.

PURPOSE: The aim of the study was to evaluate serum thyroid hormone balance in children receiving long-term therapy with carbamazepine (CBZ), valproate (VPA), and phenobarbital (PB). METHODS: We determined serum levels of triiodothyronine (T3), thyroxine (T4), free thyroxine (FT4), thyroxine-binding globulin (TBG), and thyroid-stimulating hormone (TSH) in 148 healthy children and 141 children with epilepsy who had been receiving CBZ (61 patients), VPA (51 patients), or PB (29 patients) for 12-161 months. In view of TSH values, three categories of subclinical hypothyroidism were considered: I, TSH greater than the control-group mean + 2 SD (4.37 mIU/L in our study) and <6 mIU/L; II, TSH between 6 and 12 mIU/L; and III, TSH >12 mIU/L. RESULTS: In all treated groups, mean T4 and FT4 levels were lower than in the control group, whereas the CBZ- and VPA-treated children additionally showed reduced mean T3 and TBG levels and increased mean TSH levels. In the group receiving CBZ, 8.2% had TSH values higher than the normal-range maximum, by comparison with only 3.6% of healthy children. The increase in TSH levels was particularly marked in VPA-treated children, accounting for 26% of patients with subclinical hypothyroidism. CONCLUSIONS: Our results, in contrast to previous reports, suggest that CBZ and particularly VPA may induce subclinical hypothyroidism. This suggests a need for careful monitoring of TSH levels in children receiving CBZ or VPA.

Adolescent↗
PubMed1999

Congenital hydranencephalic-hydrocephalic syndrome associated with mitochondrial dysfunction.

We report the case of a 3-year-old girl, the only child of a nonconsanguineous couple without relevant antecedents, who was born with hydranencephalic-hydrocephalic syndrome diagnosed by ultrasonography at gestation week 28, and who was treated during the neonatal period by implantation of a ventriculoperitoneal shunt. She showed severe mental retardation, and died at age 4 years following an acute respiratory infection. Due to persistently high lactic acid levels in blood, muscle and skin biopsies were taken. Analysis of muscle biopsies revealed microscopic and ultrastructural alterations typical of mitochondrial disorders, and low levels of complexes III and IV of the mitochondrial respiratory chain. The enzymes of the pyruvate dehydrogenase complex showed normal activities in cultured skin fibroblasts. These findings raise the possibility that at least some cases of congenital hydranencephalic-hydrocephalic syndrome may be due to alterations in the mitochondrial respiratory chain.

Biopsy↗
PubMed1998

Serum carnitine levels in epileptic children before and during treatment with valproic acid, carbamazepine, and phenobarbital.

Serum levels of free, acyl, and total carnitine were determined in 32 patients with seizures, before and after 3, 6, and 12 months of treatment with valproic acid (17 patients), carbamazepine (10 patients), or phenobarbital (5 patients). In all three treated groups, both free and total carnitine levels showed a significant decline with respect to pretreatment levels. This decline was most marked and most consistent in patients treated with valproic acid. In 35% of the patients in this group, carnitine deficiency (ie, total carnitine < 30 micromol/L) was observed by month 12. In none of the three groups were serum carnitine levels significantly correlated with the serum concentration of the drug. These findings suggest a need to monitor serum carnitine levels in children treated with any of these drugs.

Adolescent↗
PubMed1998

[Western type cerebro-muscular dystrophy and congenital merosin deficiency muscular dystrophy: two terms for the same disorder].

INTRODUCTION: Congenital muscular dystrophies (CMD) are a clinically heterogeneous group of muscular disorders characterized by hypotonia, muscle weakness and early or congenital joint contractures. Electromyography reveals a myopathic pattern, creatine-kinase (CK) may be moderately elevated and muscle biopsy shows pathological changes consistent with a dystrophic process. OBJECTIVE: Report the cases of two brothers with 'Occidental type cerebro-muscular dystrophy' versus 'merosin-deficient CMD'. PATIENTS AND METHODS: Two children, a boy and a girl, of a first consanguineous parents. In the first case, the diagnosis of Occidental type cerebro-muscular dystrophy was made in 1983, at the age of 4 years, according to clinical, biochemical, electromyographic, pathological and neuroradiological data. In the second case, the diagnosis of merosindeficient form of CMD was made with the same criteria and with immunohistochemistry and Western blot techniques in 1997, when she was 6 months old. CONCLUSION: Occidental type cerebro-muscular dystrophy, described 13 years ago by one member of our group, corresponds with merosin-deficient form of CMD.

Brain↗
PubMed1998

[Mitochondrial encephalomyopathies starting in childhood and adolescence].

INTRODUCTION: In this chapter we carry out a review of the current basic clinical and diagnostic aspects of mitochondrial cytopathies due to deficiencies in the mitochondrial respiratory chain complexes, which appear clinically during childhood and/or adolescence. DEVELOPMENT: The description has been divided into two groups: mitochondrial cytopathies secondary to alterations of the mitochondrial DNA (mtDNA) and mitochondrial cytopathies secondary to alterations of the nuclear DNA (nDNA). CONCLUSIONS: We conclude by considering the importance of such conditions at this age.

Adolescent↗
PubMed1998

[Treatment of mitochondrial diseases in childhood and adolescence].

The advances made in recent years in understanding this large group of disorders has led to the development of ways of approaching their treatment, although in most cases it is neither definitive nor curative. In this article we review current aspects of the treatment of defects: of substrate transport, substrate use, the Krebs cycle, the mitochondrial respiratory chain and oxidation-phosphorylation coupling. We conclude with comments on possible future treatment.

Adolescent↗
PubMed1997

[Striated osteopathy with cranial sclerosis and macrocephaly in childhood. Report of 2 cases].

INTRODUCTION: Osteopathia striata with cranial sclerosis (OS-CS) is a specific and rare bone dysplasia, with autosomal dominant inheritance. Radiographic features are typical: linear striations, particularly of long bones, and increased density mostly of the cranial basis. Facial impression is also typical, with frontal bossing, hypertelorism, epicanthic folds and both broad and depressed nasal bridge. Macrocephaly, usually present at birth, is likely to be the initial manifestation and has an uneventful course. CLINICAL CASES: Two girls, aged 3 years-5 months and 5 years-4 months with OS-CS and macrocephaly are reported here. They were evaluated from neonatal period for macrocephaly not complicated associated with peculiar facial appearance. At age of 3 years, radiologic examination showed linear striations of the long bones and sclerosis of the skull base. Their development were normal and no related deficiency was detected. Parents roentgenographs were normal. CONCLUSION: We conclude that OS-CS should be considered in the differential diagnosis in infants with macrocephaly without complications, specially if the facial appearance is striking.

Bone Diseases↗
PubMed1996

Autosomal recessive hydrocephalus with aqueductal stenosis.

We report the case histories of three sisters with congenital hydrocephalus associated with stenosis of the cerebral aqueduct. The parents were a young consanguineous couple. In two cases hydrocephalus was detected before birth by ultrasonography. We consider these three cases to be of the rare autosomal form of hereditary hydrocephalus.

Cerebral Aqueduct↗