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Carmen Niculescu

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Articole semnate de acelasi autor in Revista Romana de Pediatrie:

EVALUAREA COPILULUI ALERGIC – UTILITATEA INVESTIGATIILOR PANEL

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Revista Romana de PEDIATRIE | Volumul LXV, Nr. 4, An 2016
ISSN 1454-0398  |  e-ISSN 2069-6175
ISSN-L 1454-0398
DOI: 10.37897/RJP

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EVALUAREA COPILULUI ALERGIC – UTILITATEA INVESTIGATIILOR PANEL

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REZUMAT

Diagnosticul alergiilor pediatrice este în continuare o provocare complexă ţinând cot de incidenţa tot mai mare a acestei patologii. Obiectivele cercetării noastre au fost evaluarea utilităţii investigaţiilor panel în practica pediatrică. Am folosit copiii internaţi în Clinica de Pediatrie a Spitalului Municipal „Filantropia“ din Craiova. Evaluarea a fost făcută prin comparaţie cu un lot martor fără istoric de boli atopice. Sensibilizarea la alergeni respiratori (mai ales praf de casă) a fost cel mai frecvent întâlnită şi s-a coroborat în special cu patologia astmatică. Alergenii alimentari au fost mai rar identificaţi şi fără o corelaţie semnificativă cu modificările clinice.

Cuvinte cheie: copil, atopie, panel alergologic

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THE ASSESSMENT OF THE ATOPIC CHILDREN – PANEL TESTS

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Revista Romana de PEDIATRIE | Volumul LXV, Nr. 4, An 2016
ISSN 1454-0398  |  e-ISSN 2069-6175
ISSN-L 1454-0398
DOI: 10.37897/RJP

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THE ASSESSMENT OF THE ATOPIC CHILDREN – PANEL TESTS

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ABSTRACT

The diagnosis in pediatric allergies is still a challenge, due to the age particularities and the increasing incidence.
Objectives. The evaluation of the panel investigations as a diagnostic tool in children allergies. We enrolled children admitted in the Department of Pediatrics of the “Filantropia” Clinical Municipal Hospital, Craiova. We used also a control group without known history of atopy.
Results. The results showed sensitizations to pneumallergens (mostly Dermatophagoides group) associated to asthma. The food allergies were identified in a few cases without correlation to the clinical findings.

Keywords: children, allergy, atopic panel

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Solitary median maxillary central incisor syndrome – case report

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Revista Romana de PEDIATRIE | Volumul LX, Nr. 3, An 2011
ISSN 1454-0398  |  e-ISSN 2069-6175
ISSN-L 1454-0398
DOI: 10.37897/RJP

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Solitary median maxillary central incisor syndrome – case report

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ABSTRACT

Solitary median maxillary central incisor syndrome is a complex disorder consisting of multiple defects of development, mainly midline defects, secondary to the action of unknown factors operating in utero about the 35th-38th days from conception. The authors present a case of the child V.C. of 13 years and 9 months old, with repeated admissions for the assessment of short stature and mental retardation. At the age of 5 years the child was diagnosed with asthma, and at 10 years old with panhypopituitarism, and took inconstantly a thyroid replacement and growth hormone therapy. Clinical examination: severe short stature, facial dysmorphism, chronic nasal obstruction, the presence of a solitary median central incisor, moderate mental retardation with attention deficit. Laboratory examinations: cranial CT – pituitary hypoplasia; the hormonal tests confirmed the diagnosis of panhypopituitarism.

Key words: solitary median maxillary incisor syndrome, child

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SINDROMUL INCISIVULUI MAXILAR MEDIAN UNIC

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Revista Romana de PEDIATRIE | Volumul LX, Nr. 3, An 2011
ISSN 1454-0398  |  e-ISSN 2069-6175
ISSN-L 1454-0398
DOI: 10.37897/RJP

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SINDROMUL INCISIVULUI MAXILAR MEDIAN UNIC

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REZUMAT

Sindromul incisivului maxilar median unic este o afecţiune complexă, datorată unor defecte multiple de dezvoltare, în special pe linia mediană, secundar acţiunii unor factori necunoscuţi, care acţionează în zilele 35-38 de viaţă intrauterină. Autorii prezintă cazul copilului V.C. în vârstă de 13 ani 9 luni, cu repetate internări în vederea evaluării pentru hipostatură şi retard mental. La vârsta de 5 ani a fost diagnosticat cu astm bronşic, iar la vârsta de 10 ani cu panhipopituitarism; a urmat tratament de substituţie tiroidiană şi cu hormon de creştere, dar inconstant. Examenul clinic: retard statural marcat, facies dismorf, obstrucţie nazală cronică, prezenţa incisivului maxilar median unic, retard mental moderat, cu deficit de atenţie. Examinări paraclinice: CT cranian – hipoplazie hipofizară, determinările hormonale au confirmat diagnosticul de panhipopituitarism.

Cuvinte cheie: sindromul incisivului maxilar median unic, copil

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Prader-Willi syndrome – case report

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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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Prader-Willi syndrome – case report

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ABSTRACT

Study objective. The objective of the present study is to introduce the diagnosis steps of a rare disease, Prader-Willi Syndrome. Materials and methods. The patient, aged 15 years, was admitted to the Clinical Emergency Hospital for Children “Sf. Ioan” with productive cough and dyspnea. Considering the morbid obesity, mental retardation and other phenotypic aspects noticed when she was admitted, further specialized tests and examinations were recommended (neurological, ENT, endocrinology, orthopedics, gynecology). After the correlation of this disease history with clinical examination and laboratory results, the suspected diagnosis was that of Prader-Willi Syndrome. The genetic analysis was recommended for diagnostic evaluation. Results. Laboratory tests revealed glucose metabolism disorder and hypothyroidism, endocrinological examination suggesting hypothalamic-pituitary etiology of morbid obesity. Gynecological exam found normal anatomically conformation, absent pituitary function, no changes on adrenarche, sex hormones almost absent, no indication of substitutive treatment. ACTH deficiency was correlated with cortisol deficiency. Genetic analysis (FISH, molecular probe D15S10) showed microdeletion on the long arm of chromosome 15 between bands q11-q13, confirming the diagnosis of Prader-Willi syndrome. Conclusion. The results of expert examination and laboratory investigations played an important role in setting the diagnosis but its confirmation is due to genetic testing. Our case highlights once again the need and importance of molecular diagnostic techniques in clinical practice.

Key words: rare diseases, Prader-Willi Syndrome, FISH

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SINDROMUL PRADER-WILLI – PREZENTARE DE CAZ

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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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SINDROMUL PRADER-WILLI – PREZENTARE DE CAZ

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REZUMAT

Obiectivul studiului. Obiectivul studiului este prezentarea etapelor de diagnosticare a unei boli rare, sindromul Prader-Willi. Materiale şi metodă. Pacienta, în vârstă de 15 ani, s-a adresat Spitalului Clinic de Urgenţă pentru Copii „Sf. Ioan“ din Galaţi pentru tuse productivă şi dispnee. Având în vedere obezitatea morbidă, retardul mental şi alte aspecte fenotipice constatate la internare, au fost recomandate o serie de teste şi examene de specialitate (neurologice, ORL, endocrinologice, ortopedice, ginecologice). Corelarea istoricului bolii cu rezultatele examenului clinic şi paraclinic a suspicionat diagnosticul de sindrom Prader-Willi. Pentru evaluarea diagnosticului s-a indicat analiza genetică. Rezultate. Testele de laborator au evidenţiat tulburări de glicoreglare şi hipotiroidism, examenul endocrinologic sugerând o etiologie hipotalamo-hipofizară a obezităţii morbide. Examenul ginecologic a constatat o conformaţie anatomică normală în condiţiile absenţei funcţiei hipofizare şi în lipsa modificărilor de adrenarhă, cu hormoni sexuali aproape absenţi. Deficitul de ACTH s-a corelat cu deficitul de cortisol. Analiza genetică (FISH, sonda moleculară D15S10) a evidenţiat microdeleţia braţului lung al cromozomului 15 între benzile q11-q13, confirmând diagnosticul de sindrom Prader-Willi. Concluzie. Rezultatele examenelor de specialitate şi investigaţiile paraclinice uzuale au avut un rol important în orientarea diagnosticului, dar confirmarea acestuia se datorează testării genetice. Cazul prezentat subliniază, o dată în plus, necesitatea şi valoare tehnicilor moleculare de diagnostic în practica medicală.

Cuvinte cheie: boli rare, sindromul Prader-Willi, FISH

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