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Mariana Boia

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Articole semnate de acelasi autor in Revista Romana de Pediatrie:

PARTICULARITATI CLINICO-EVOLUTIVE INTR-UN CAZ DE SINDROM CROUZON

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Revista Romana de PEDIATRIE | Volumul LXIV, Nr. 4, An 2015
ISSN 1454-0398  |  e-ISSN 2069-6175
ISSN-L 1454-0398
DOI: 10.37897/RJP

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National Awards “Science and Research”

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PARTICULARITATI CLINICO-EVOLUTIVE INTR-UN CAZ DE SINDROM CROUZON

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REZUMAT

Sindromul Crouzon este o boală genetică rară, cu o incidenţă între 1/25.000-1/100.000 de nou-născuţi, transmisă autozomal dominant, caracterizată prin craniosinostoză şi dismorfism facial caracteristic, putând fi diagnosticat precoce. Prezentăm cazul unui nou-născut prematur de sex feminin internat în Secţia de Neonatologie Spitalul „Louis Ţurcanu“, cu dismorfism facial marcat. Ancheta anamnestică evidenţiază faptul că mama şi sora pacientei prezintă acelaşi tip de afecţiune. Durata de viaţă în sindromul Crouzon este normală, 97% dintre ei au o inteligenţă normală. Calitatea vieţii este afectată de considerente de ordin estetic şi de severitatea anomaliilor pe care le prezintă.

Cuvinte cheie: sindrom Crouzon, gena FGFR2, craniosinostoză.

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CROUZON SYNDROME – CLINICAL-EVOLUTIVE PARTICULARITIES. CASE REPORT

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Revista Romana de PEDIATRIE | Volumul LXIV, Nr. 4, An 2015
ISSN 1454-0398  |  e-ISSN 2069-6175
ISSN-L 1454-0398
DOI: 10.37897/RJP

Indexed

DOI - Crossref
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DOAJ
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HIGHLIGHTS

National Awards “Science and Research”

NEW! RJP has announced the annually National Award for "Science and Research" for the best scientific articles published throughout the year in the official journal.

ICMJE- Recommendations

Read the Recommendations for the Conduct, Reporting, Editing, and Publication of Scholarly work in Medical Journals.

Promoting Global Health

The published medical research literature is a global public good. Medical journal editors have a social responsibility to promote global health by publishing, whenever possible, research that furthers health worldwide.

CROUZON SYNDROME – CLINICAL-EVOLUTIVE PARTICULARITIES. CASE REPORT

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ABSTRACT

The Crouzon’s Syndrome is a rare genetic disorder, with an incidence between 1/25,000 to 1/100,000 newborn babies, transmitted autosomal dominant, characterized by facial dysmorphism and craniosynostosis, based on those characteristic can be diagnosed early. We present the case of a premature newborn female admitted to the Hospital Division of Neonatology “Louis Ţurcanu” with facial dysmorphism. The anamnestic investigation revealed that the patient’s mother and sister suffer from the same type of affection. The patients affected by Crouzon Syndrome have a normal lifespan, and 97% of them have a normal intelligence. The quality of their life is affected by aesthetic considerations and the severity of abnormalities they present.

Keywords: Crouzon’s Syndrome, FGFR2 gene, craniosinostosys

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SPECTE DE DIAGNOSTIC SI EVOLUTIE ALE HEMORAGIEI INTRAVENTRICULARE LA PREMATURI

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Revista Romana de PEDIATRIE | Volumul LXII, Nr. 4, An 2013
ISSN 1454-0398  |  e-ISSN 2069-6175
ISSN-L 1454-0398
DOI: 10.37897/RJP

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National Awards “Science and Research”

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ICMJE- Recommendations

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Promoting Global Health

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SPECTE DE DIAGNOSTIC SI EVOLUTIE ALE HEMORAGIEI INTRAVENTRICULARE LA PREMATURI

, and

REZUMAT

Obiective. Lucrarea de faţă are ca scop analiza factorilor de risc, a gradelor de severitate şi a complicaţiilor asociate hemoragiei intraventriculare. Material şi metodă. Studiul retrospectiv, pe o perioadă de 5 ani, analizează 514 cazuri de prematuri cu semne ecografice specifice de hemoragie intraventriculară trataţi în Clinica de Puericultură şi Neonatologie Timişoara. Rezultate. Incidenţa bolii a variat indirect proporţional cu vârsta de gestaţie, fiind mai crescută în rândul prematurilor VLBW şi ELBW. Principalii factori de risc incriminaţi au fost acidoza, sindromul de detresă respiratorie, hipoxia şi hipercarbia. Repartiţia cazurilor pe grade de severitate a fost următoarea: gradul I – 204 cazuri (39,68%), gradul II – 142 cazuri (27,62%), gradul III – 91 cazuri (17,70%) şi gradul IV – 77 de cazuri (15%). Majoritatea cazurilor au fost asimptomatice, fiind diagnosticate în urma efectuării de rutină a ecografiei TF. 36% au avut evoluţie saltatorie, cu deteriorarea progresivă a statutului neurologic, alterarea tonusului muscular şi tulburări ale frecvenţei respiratorii. 21% au prezentat evoluţie catastrofală, cu bombarea fontanelei anterioare, dehiscienţa suturilor craniene, vărsături în jet, convulsii, postură de decerebrare şi perioade de apnee. Evoluţia la 6 luni a formaţiunilor hiperreflectogene a variat în funcţie de stadiul evolutiv al bolii, 28,9% dintre cazuri prezentând resorbtie completă, 35% chist în matricea germinală şi 25,87% ventriculomegalie. Concluzii. Ecografia transfontanelară a fost metoda de elecţie în stabilirea diagnosticului pozitiv. Ponderea mai mare a hemoragiei IV a fost întâlnită în rândul prematurilor VLBW şi ELBW, în rândul cărora au predominat formele severe de boală. Formele uşoare şi medii de boală au avut evoluţie bună, soldată în majoritatea cazurilor cu remisiunea parţială/completă a semnelor ecografice. Hidrocefalia obstructivă posthemoragică a fost cea mai frecventă complicaţie.

Cuvinte cheie: hemoragie intraventriculară, prematur, ecografie

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DIAGNOSTIC AND EVOLUTIONARY ASPECTS OF INTRAVENTRICULAR HEMORRHAGE IN PRETERM INFANTS

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Revista Romana de PEDIATRIE | Volumul LXII, Nr. 4, An 2013
ISSN 1454-0398  |  e-ISSN 2069-6175
ISSN-L 1454-0398
DOI: 10.37897/RJP

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National Awards “Science and Research”

NEW! RJP has announced the annually National Award for "Science and Research" for the best scientific articles published throughout the year in the official journal.

ICMJE- Recommendations

Read the Recommendations for the Conduct, Reporting, Editing, and Publication of Scholarly work in Medical Journals.

Promoting Global Health

The published medical research literature is a global public good. Medical journal editors have a social responsibility to promote global health by publishing, whenever possible, research that furthers health worldwide.

DIAGNOSTIC AND EVOLUTIONARY ASPECTS OF INTRAVENTRICULAR HEMORRHAGE IN PRETERM INFANTS

, and

ABSTRACT

Objectives. The aim of this study was to asses the risk factors, the grades of severity, and the complications associated with intraventricular hemorrhage.

Methods. The retrospective study, conducted over a period of five years in the Neonatology Clinic Timisoara, included 514 preterm infants with specific sonographic signs of intraventricular hemorrhage (IV).

Results. The incidence varied indirectly proportional to gestational age, being higher among preterm VLBW and ELBW. The main incriminated risk factors were: acidosis, respiratory distress syndrome, hypoxia and hypercarbia. The distribution of cases based on the degree of severity was as follows: grade I, 204 patients (39.68%), grade II, 142 patients (27.62%), grade III, 91 cases (17.70%) and grade IV, 77 cases (15%). Most cases were asymptomatic, being diagnosed based on routine ultrasound. 36% had saltatory evolution, with progressive deterioration of neurologic status, altered muscle tone and respiratory distress. 21% had catastrophic evolution with bulging fontanelle, projectile vomiting, seizures, decerebrate posturing, and apneic spells. Upon follow-up at 6 months, the outcome of the sonographic signs depended on the severity of the bleed, 28.9% cases presented complete resorption, 35% germinal matrix cyst and 25.87% ventriculomegaly.

Conclusions. Transfontanellar ultrasound was the diagnostic method of choice. Most intraventricular bleedings were diagnosed among VLBW and ELBW infants, and were severe forms of disease. Mild and medium forms of disease had good outcome, with partial/ complete resolution of the ultrasonographic signs. Posthemorrhagic obstructive hydrocephalus was the most common complication.

Key words: partial pressure of oxygen, Astrup parameters, hemoglobin oxygen saturation, pulse oximetry

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RISKS AND BENEFITS OF METHYLXANTHINES THERAPY – CASE STUDY

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Revista Romana de PEDIATRIE | Volumul LXIII, Nr. 3, An 2014
ISSN 1454-0398  |  e-ISSN 2069-6175
ISSN-L 1454-0398
DOI: 10.37897/RJP

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HIGHLIGHTS

National Awards “Science and Research”

NEW! RJP has announced the annually National Award for "Science and Research" for the best scientific articles published throughout the year in the official journal.

ICMJE- Recommendations

Read the Recommendations for the Conduct, Reporting, Editing, and Publication of Scholarly work in Medical Journals.

Promoting Global Health

The published medical research literature is a global public good. Medical journal editors have a social responsibility to promote global health by publishing, whenever possible, research that furthers health worldwide.

RISKS AND BENEFITS OF METHYLXANTHINES THERAPY – CASE STUDY

, and

ABSTRACT

Introduction. Apnea of prematurity (AOP), a developmental disorder of respiratory control present in approximately 80% of extremely low birth weight (ELBW) infants, that, if prolonged, may cause hypoxemia and low cardiac output, with subsequent neurodevelopmental compromise.

Material and method. Retrospective study in a regional referral level III neonatal intensive care unit, sought to evaluate our experience with methylxanthines treatment for recurrent apneic spells in 84 preterm infants with gestational age of < 32 weeks and birth weight of < 1,500 g.

Results. The median maintenance dose was 5 mg/kg/d for caffeine citrate, and 3 mg/kg/d for theophylline. There was no difference in mean apnea rate between caffeine and theophylline groups after one to week of treatment, with similar need for continuous positive airway pressure and supplementary oxygen requirements in both groups. Adverse effects, such as tachycardia, feeding intolerance and failure to gain weight leading to change in dosage, were lower in the caffeine group.

Conclusions. Lower postmenstrual age (less than 28,2 weeks) were associated with increased need for methylxanthines weight adjustments and mini-loads, as these infants required longer courses of therapy. While both methylxanthines are as effective in treating apneic preterms, caffeine citrate was the preferred drug given its wider therapeutic margin, and fewer adverse effects.

Keywords: apnea of prematurity, methylxanthines, adverse effects

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RISCURI SI BENEFICII ALE TERAPIEI CU METILXANTINE – STUDIU DE CAZ

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Revista Romana de PEDIATRIE | Volumul LXIII, Nr. 3, An 2014
ISSN 1454-0398  |  e-ISSN 2069-6175
ISSN-L 1454-0398
DOI: 10.37897/RJP

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HIGHLIGHTS

National Awards “Science and Research”

NEW! RJP has announced the annually National Award for "Science and Research" for the best scientific articles published throughout the year in the official journal.

ICMJE- Recommendations

Read the Recommendations for the Conduct, Reporting, Editing, and Publication of Scholarly work in Medical Journals.

Promoting Global Health

The published medical research literature is a global public good. Medical journal editors have a social responsibility to promote global health by publishing, whenever possible, research that furthers health worldwide.

RISCURI SI BENEFICII ALE TERAPIEI CU METILXANTINE – STUDIU DE CAZ

, and

REZUMAT

Introducere. Apnea de prematuritate (AOP), tulburare de dezvoltare a controlului respirator, este prezentă la aproximativ 80% dintre sugarii cu greutate extrem de mică la naştere (ELBW). În cazul în care se prelungeşte, poate cauza hipoxemie şi scăderea debitului cardiac, însoţite de compromiterea dezvoltării neurologice ulterioare.

Material şi metodă. Studiul retrospectiv realizat într-o unitate de terapie intensivă neonatală regională de gradul III, a încercat să evalueze experienţa noastră în administrarea de metilxantine pentru episoade recurente de apnee, fiind vorba despre 84 de nou-născuţi prematuri cu vârstă gestaţională < 32 de săptămâni şi greutate la naştere < 1.500 g.

Rezultate. Doza medie de întreţinere a fost de 5 mg/kg/zi pentru citratul de cafeină, şi 3 mg /kg/zi pentru teofilină. Nu a fost sesizată nici o diferenţă în rata medie de apnee între grupul tratat cu cafeină şi cel cu teofilină după o săptămână de tratament, ambele având nevoi similare de presiune pozitivă continuă la nivelul căilor respiratorii şi cerinţe suplimentare similare de oxigen. Efectele adverse, precum tahicardia, intoleranţa alimentară şi stagnarea în greutate, care să determine modificări ale dozei, au fost mai rare în rândul grupului tratat cu cofeină.

Concluzii. Vârstele postmenstruale mai mici (< 28,2 săptămâni) au fost asociate cu o nevoie crescută de metilxantine, ajustări ale dozelor în funcţie de greutate şi administrarea de bolusuri, datorită faptului că aceşti copii au necesitat perioade mai lungi lungi de terapie. Deşi ambele metilxantine sunt la fel de eficiente în tratarea apneei de prematuritate, citratul de cafeină a fost medicamentul preferat, având în vedere marja terapeutică largă, şi incidenţa mai scăzută a efectelor adverse.

Cuvinte cheie: apnee de prematuritate, metilxantine, efecte adverse

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