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E. Cîrdeiu

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Articole semnate de acelasi autor in Revista Romana de Pediatrie:

Epileptic seizures in children with Down syndrome

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Revista Romana de PEDIATRIE | Volumul LXII, Nr. 1, An 2013
ISSN 1454-0398  |  e-ISSN 2069-6175
ISSN-L 1454-0398
DOI: 10.37897/RJP

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Epileptic seizures in children with Down syndrome

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ABSTRACT

Epileptic seizures are one of the most common neurological disturbance in children with Down syndrome. The aim of this study was to evaluate the nature and evolution of epileptic seizures in pediatric patients with Down syndrome. The study group contained 23 children with Down syndrome who were diagnosed with different types of seizures (11 cases with epileptic spasms, 5 cases with generalized tonic-clonic seizures, 7 cases with complex focal seizures). Age of onset of critical episodes ranged from 1 month to 8 years. The study protocol included general and neurological clinical examination, psychological evaluation, electroencephalogram, neuroimaging and blood biochemical explorations. Neuro-radiology examinations revealed agenesis of the corpus callosum (3 cases), cerebral atrophy (6 cases), arachnoid cyst and choroid plexus cyst (1 case), polymicrogyria (2 cases) and were normal in 11 cases. Response to antiepileptic medication was different compared to seizures semiology. The prognosis of epileptic seizures in patients with Down syndrome depend of age of onset and type of seizures and of neuropathological changes in the brain, prognosis being reserved at children with the onset of the seizures in the first year of life.

Key words: child, Down syndrome, epileptic seizures

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CRIZELE EPILEPTICE LA COPIII CU SINDROM DOWN

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Revista Romana de PEDIATRIE | Volumul LXII, Nr. 1, An 2013
ISSN 1454-0398  |  e-ISSN 2069-6175
ISSN-L 1454-0398
DOI: 10.37897/RJP

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CRIZELE EPILEPTICE LA COPIII CU SINDROM DOWN

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REZUMAT

Crizele epileptice reprezintă una dintre cele mai frecvente manifestări neurologice care fac parte din tabloul clinic al copiilor cu sindrom Down. Scopul acestui studiu a fost de a evalua aspectul şi evoluţia crizelor epileptice la bolnavii de vârstă pediatrică cu sindrom Down. Lotul de studiu a cuprins 23 de copii cu sindrom Down care au fost diagnosticaţi cu diferite tipuri de crize epileptice (11 cazuri cu spasme epileptice, 5 cazuri cu crize generalizate tonico-clonice, 7 cazuri cu crize focale complexe). Vârsta de debut a crizelor epileptice a fost cuprinsă între 1 lună de viaţă şi 8 ani. Protocolul de studiu a cuprins examen clinic general şi neurologic, evaluare psihologică, electroencefalogramă, explorări neuroimagistice şi hemato-biochimice. Examenele neuroradiologice au evidenţiat agenezie de corp calos (3 cazuri), atrofie cerebrală (6 cazuri), chist arahnoidian şi chist de plex coroid (1 caz), polimicrogirie (2 cazuri) şi a fost normal în 11 cazuri. Răspunsul la medicaţia antiepileptică a fost diferit, corelându-se cu semiologia crizelor. Prognosticul crizelor epileptice în sindrom Down este dependent de vârsta de debut şi semiologia crizelor şi de substratul morfopatologic, prognostic rezervat având cei la care crizele au debutat în primul an de viaţă.

Cuvinte cheie: copil, sindrom Down, crize epileptice

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Factors influencing calcium deficit in children and adolescents

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Revista Romana de PEDIATRIE | Volumul LXII, Nr. 1, An 2013
ISSN 1454-0398  |  e-ISSN 2069-6175
ISSN-L 1454-0398
DOI: 10.37897/RJP

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Factors influencing calcium deficit in children and adolescents

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ABSTRACT

Calciu, the most abundant mineral in the body, is a real nutriment. Its homeostasis involvesthe parathyroid hormone, serum vitamin D level, calcium sensing receptos and vitamin D receptors. The authors present data on calcium and vitamin D intake in infants, children and adolescents, as well as nutritional factors leading to fecal and urinary calcium loss: excess fat, salt, oxalate, phytate, meat, cocoa, coffee. The genetic factor, represented by vitamin D receptors in bone, influences the number of polymorphisms and phenotypic polymorphism 70-80% of the individual bone density, even if dietary intake of calcium is adequate.

Key words: calcium deficiency, involoved factors, child

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FACTORI CARE INFLUENTEAZA DEFICITUL DE CALCIU LA COPIL SI ADOLESCENT

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Revista Romana de PEDIATRIE | Volumul LXII, Nr. 1, An 2013
ISSN 1454-0398  |  e-ISSN 2069-6175
ISSN-L 1454-0398
DOI: 10.37897/RJP

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FACTORI CARE INFLUENTEAZA DEFICITUL DE CALCIU LA COPIL SI ADOLESCENT

and

REZUMAT

Calciul, cel mai important mineral al organismului, este un adevărat nutriment. Homeostazia acestuia este asigurată în principal de parathormon, nivelul seric al vitaminei D, de receptorii de calciu membranari şi de receptorii osoşi pentru vitamina D. Autorii prezintă date legate de aportul de calciu şi vitamina D la sugar, copil şi adolescent, precum şi factorii nutriţionali care conduc la pierderi fecale şi urinare de calciu: excesul de grăsimi, sare, oxalaţi, fitaţi, carne, cacao, cafea. Factorul genetic reprezentat prin receptorii de vitamina D de la nivel osos influenţează prin polimorfismul numeric şi fenotipic în procent de 70-80% densitatea osoasă a individului, chiar sub un aport dietetic de calciu normal.

Cuvinte cheie: deficit de calciu, factori implicaţi, copil

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Influence of Phenylalanine-free diet on neuro-psychological development in phenylketonuria

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Revista Romana de PEDIATRIE | Volumul LXII, Nr. 1, An 2013
ISSN 1454-0398  |  e-ISSN 2069-6175
ISSN-L 1454-0398
DOI: 10.37897/RJP

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Influence of Phenylalanine-free diet on neuro-psychological development in phenylketonuria

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ABSTRACT

Phenylketonuria has long been an incurable disease. In the last decades, early detection by newborn screening and the introduction of phenylalanine-free diet have positively influenced the neuro-psychological development of these patients. The pathogenesis of cognitive dysfunction is still unknown although there has been significant progress in understanding the disease. In literature, the emphasis is on increased concentrations of phenylalanine in the brain, as pathological substrate of mental retardation. However, in addition to phenylalanine neurotoxicity, a deficit in neutral amino acids in the brain may be an important factor that affects cognitive function in phenylketonuria. Mental development depends on when the treatment is initiated and its continuation. In children with phenylketonuria treated early and continuously, intelligence quotient is normal, but below the average for the general population. In conclusion, the pathogenetic cascade of brain dysfunction in phenylketonuria starts with the effect of the high blood Phe concentration on metabolite transport through blood-brain barrier associated with a deficit of neutral amine acids in the brain. Dietary phenylalanine restriction remains the treatment of choice, especially during childhood.

Key words: phenylketonuria, mental retardation, diet

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INFLUENTA DIETEI FARA FENILALANINA ASUPRA DEZVOLTARII NEUROPSIHICE IN FENILCETONURIE

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Revista Romana de PEDIATRIE | Volumul LXII, Nr. 1, An 2013
ISSN 1454-0398  |  e-ISSN 2069-6175
ISSN-L 1454-0398
DOI: 10.37897/RJP

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INFLUENTA DIETEI FARA FENILALANINA ASUPRA DEZVOLTARII NEUROPSIHICE IN FENILCETONURIE

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REZUMAT

Fenilcetonuria (PKU) a fost mult timp o boală incurabilă. În ultimele decade, diagnosticul precoce prin screening neonatal şi introducerea dietei fără fenilalanină au influenţat pozitiv dezvoltarea neurologică a acestor pacienţi. Patogenia disfuncţiei cognitive este încă necunoscută, deşi s-au realizat progrese importante în cunoaşterea acestei boli. În literatură, accentul se pune pe influenţa concentraţiilor crescute ale fenilalaninei din creier ca substrat patologic al retardului mintal. În afara neurotoxicităţii fenilalaninei, un factor important poate fi şi deficitul aminoacizilor neutri în creier, care afectează funcţia cognitivă în fenilcetonurie. Dezvoltarea mintală depinde de momentul începerii tratamentului şi de respectarea acestuia. Copiii cu PKU trataţi precoce şi continuu vor avea coeficientul de inteligenţă normal, dar sub media pentru populaţia generală. În concluzie, cascada patogenezei disfuncţiei cerebrale în fenilcetonurie începe cu efectul concentraţiilor sanguine crescute ale Phe asupra transportului metaboliţilor prin bariera hemato-encefalică, la care se adaugă deficitul cerebral de aminoacizi neutri. Dieta fără fenilalanină rămâne tratamentul de primă intenţie în prevenirea retardului neuropsihic.

Cuvinte cheie: fenilcetonurie, retard mintal, dietă

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Early adult osteoporosis can be prevented by an adequate dietary calcium intake during childhood

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Revista Romana de PEDIATRIE | Volumul LXII, Nr. 2, An 2013
ISSN 1454-0398  |  e-ISSN 2069-6175
ISSN-L 1454-0398
DOI: 10.37897/RJP

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Early adult osteoporosis can be prevented by an adequate dietary calcium intake during childhood

and

 ABSTRACT

Calcium represents an esential nutrient in the homeostasis of human body, especially for obtaining a normal bone mass. It is found in 99% in the bones and teeth. Amount of the bone calcium is approximately of 450 g at the age of 9-10 years and reach to 600-700 g between 18-20 years. Currently, it is a clear relationship between bone density obtained in adolescence and the appearance of osteoporosis at young age (non-physiological), arguing that it becomes a pediatric disease.

Key words: osteoporosis, cacium, childhood

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APARITIA OSTEOPOROZEI PRECOCE LA ADULT POATE FI PREVENITA DIN COPILARIE PRINTR-UN APORT ADECVAT DE CALCIU IN DIETA

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Revista Romana de PEDIATRIE | Volumul LXII, Nr. 2, An 2013
ISSN 1454-0398  |  e-ISSN 2069-6175
ISSN-L 1454-0398
DOI: 10.37897/RJP

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APARITIA OSTEOPOROZEI PRECOCE LA ADULT POATE FI PREVENITA DIN COPILARIE PRINTR-UN APORT ADECVAT DE CALCIU IN DIETA

and

REZUMAT

Calciul reprezintă un nutriment esenţial în homeostazia organismului uman, îndeosebi pentru obţinerea unei mase osoase normale. El se găseşte în proporţie de 99% în oase şi dinţi. Cantitatea osoasă de calciu este de aproximativ 450 g la vârsta de 9-10 ani şi ajunge la 600-700 g între 18-20 ani. În prezent, este o relaţie clară între densitatea osoasă obţinută în adolescenţă şi apariţia la vârste tinere (nefiziologice) a osteoporozei, susţinându-se că aceasta devine o afecţiune pediatrică.

Cuvinte cheie: osteoporoză, calciu, copil

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