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Cristina Jitareanu

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Articole semnate de acelasi autor in Revista Romana de Pediatrie:

DEBUT SI EVOLUTIE INTR-UN CAZ DE BOALA GAUCHER TIP 2

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Revista Romana de PEDIATRIE | Volumul LXIV, Nr. 3, An 2015
ISSN 1454-0398  |  e-ISSN 2069-6175
ISSN-L 1454-0398
DOI: 10.37897/RJP

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DEBUT SI EVOLUTIE INTR-UN CAZ DE BOALA GAUCHER TIP 2

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REZUMAT

Boala Gaucher este cea mai frecventă maladie lizozomală, cu transmitere autosomal recesivă. Boala se datorează deficitului enzimei glucocerebrozidază, rezultând în acumularea de glucocerebrozide în toate organele. Diagnosticul se stabileşte prin măsurarea activităţii enzimei. Dintre formele clinice, tipul 2 este cel mai rar şi are prognosticul cel mai sumbru. Prezentăm cazul unui sugar depistat la vârsta de 5 luni cu simptome neurologice şi evoluţia lui ulterioară cu hepatosplenomegalie masivă, fiind diagnosticat cu tipul 2 de boală Gaucher.

Cuvinte cheie: boală lizozomală, boală Gaucher tip 2, manifestări neurologice, hepatosplenomegalie, activitatea glucocerebrozidazei

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TYPE 2 GAUCHER DISEASE: ONSET AND EVOLUTION – CASE REPORT

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Revista Romana de PEDIATRIE | Volumul LXIV, Nr. 3, An 2015
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.

TYPE 2 GAUCHER DISEASE: ONSET AND EVOLUTION – CASE REPORT

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ABSTRACT

Gaucher disease is the most common lysosomal storage disorder, with autosomal recessive transmission. The disease is due to glucocerebrosidase enzyme deficiency, resulting in accumulation of glucocerebroside in all organs. The diagnosis is established by measuring enzyme activity. Among the clinical forms, type 2 is the rarest and has the most dismal prognosis. We present the case of an infant found at 5 months of age with neurological symptoms and his subsequent evolution with massive hepatosplenomegaly, being diagnosed with type 2 Gaucher disease.

Keywords: lysosomal storage disorder, type 2 Gaucher disease, neurological manifestations, hepatosplenomegaly, glucocerebrosidase activity

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INGESTIA CONCOMITENTA DE ETILENGLICOL SI ETANOL: O CAPCANA DE DIAGNOSTIC?

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Revista Romana de PEDIATRIE | Volumul LXIV, Nr. 3, 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”

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

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Promoting Global Health

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INGESTIA CONCOMITENTA DE ETILENGLICOL SI ETANOL: O CAPCANA DE DIAGNOSTIC?

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REZUMAT

Etilenglicolul este unul dintre cei mai toxici alcooli, fiind consumat accidental sau voluntar, ca substituent al etanolului sau în scop suicid. Ingestia de etilenglicol determină, prin metaboliţii săi toxici, acidoză metabolică severă, cu creşterea hiatusului anionic şi osmotic, conducând la un tablou clinic ce asociază deprimarea sistemului nervos central, afectare cardiovasculară şi insuficienţă renală. Prezentăm cazul unui pacient în vârstă de 16 ani internat pentru semne clinice şi biologice de intoxicaţie cu etilenglicol apărute după ingestia simultană de antigel şi alcool. Pacientul a prezentat acidoză metabolică doar la debut, rapid corectată de o doză de bicarbonat de sodiu; investigaţiile ulterioare nu au relevat acidoză, chiar dacă în evoluţie a apărut insuficienţa renală acută ce a necesitat hemodializă. Datorită absenţei anamnezei pozitive şi a acidozei metabolice persistente, diagnosticul de intoxicaţie cu etilenglicol a fost întârziat până la confirmarea prin testul toxicologic seric. Concluzii: ingestia concomitentă de etanol poate masca simptomele intoxicaţiei cu etilenglicol; absenţa acidozei metabolice persistente nu exclude diagnosticul.

Cuvinte cheie: etilenglicol, acidoză metabolică, insuficienţă renală acută, hemodializă, intoxicaţie

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CONCOMITANT INGESTION OF ETHYLENE GLYCOL AND ETHANOL: A DIAGNOSIS TRAP?

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Revista Romana de PEDIATRIE | Volumul LXIV, Nr. 3, 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”

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

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Promoting Global Health

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CONCOMITANT INGESTION OF ETHYLENE GLYCOL AND ETHANOL: A DIAGNOSIS TRAP?

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ABSTRACT

Ethylene glycol is one of the most toxic alcohols; it may be accidentally or intentionally consumed as a substitute for ethanol or related to suicidal attempts. Ingestion of ethylene glycol causes a severe metabolic acidosis with increased anion and osmotic gap due to its toxic metabolites, leading to a clinical picture of central nervous system depression, cardiovascular and renal impairment. A 16-year-old boy was admitted with clinical and biological signs of ethylene glycol poisoning after simultaneous ingestion of antifreeze and ethanol. The patient had mild anion gap metabolic acidosis only at the debut, rapidly corrected with one dose of sodium bicarbonate; further evaluation did not reveal acidosis, even if the subsequent evolution included acute renal failure requiring hemodialysis. Due to the absence of a positive history and of a persistent metabolic acidosis, the diagnosis of ethylene glycol poisoning was delayed until it was confirmed by serum toxicological test. Conclusions: concomitant ingestion of ethanol may mask the symptoms of ethylene glycol poisoning; the absence of persistent metabolic acidosis does not rule out the diagnosis.

Keywords: ethylene glycol, metabolic acidosis, acute renal failure, hemodialysis, poisoning

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Bland-White-Garland syndrome with early fatal evolution

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Revista Romana de PEDIATRIE | Volumul LXI, Nr. 3, An 2012
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

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Bland-White-Garland syndrome with early fatal evolution

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ABSTRACT

The authors present the case of an 2 months old infant, who is hospitalized for clinical signs of congestive heart failure, with dilated cardiomyopathy on Doppler echocardiography and myocardial infarction on ECG. Despite the medical treatment the evolution was unfavorable, and pathological examination confirms the anomalous origin of the left coronary artery (LCA) from the pulmonary artery (PA), dilated left ventricular cardiomyopathy, secondary subendocardic fibroelastosis and necrosis.

Key words: anomalous origin of the left coronary artery, heart failure, dilated cardiomyopathy, myiocardial ischemia

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SINDROM BLAND-WHITE-GARLAND CU EVOLUTIE FATALA PRECOCE

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Revista Romana de PEDIATRIE | Volumul LXI, Nr. 3, An 2012
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.

SINDROM BLAND-WHITE-GARLAND CU EVOLUTIE FATALA PRECOCE

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REZUMAT

Autorii prezintă cazul unui sugar în vârstă se 2 luni, care se internează pentru semne clinice de insuficienţă cardiacă congestivă ce asociază hipotensiune arterială şi timp de recolorare prelungit, cu cardiomiopatie dilatativă la ecocardiografia Doppler şi modificări ischemice pe EKG. În ciuda tratamentului medicamentos, evoluţia a fost nefavorabilă, iar examenul anatomopatologic confirmă originea anormală a arterei coronare stângi (ACS) din artera pulmonară (AP), cardiomiopatia dilatativă a ventriculului stâng şi evidenţiază fibroelastoză şi necroză subendocardică secundare.

Cuvinte cheie: origine anormală a arterei coronare stângi, insuficienţă cardiacă, cardiomiopatie dilatativă, ischemie miocardică

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Dentocalmin poisoning

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Revista Romana de PEDIATRIE | Volumul LXI, Nr. 4, An 2012
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.

Dentocalmin poisoning

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ABSTRACT

Dentocalmin is a contact anesthetic, analgesic and local antiseptic treatment used in dentistry. Poisoning with this substance causes severe clinical manifestations due to lidocaine and phenol, the main active constituents. We present the case of an 11 months old infant, accidentally poisoned with dentocalmin, admitted with seizures followed by cardiopulmonary arrest. He was resuscitated and mechanically ventilated for 24 hours. The evolution was favourable, despite high toxic dose and complications arising from endotracheal intubation – pneumothorax, pneumomediastinum and cervical and thoracic subcutaneous emphysema. The child was discharged 10 days later, in good general condition, without neuropsychiatric sequelae.

Key words: dentocalmin, poisoning, seizures, cardiopulmonary arrest, child

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MANIFESTARI CLINICE IN INTOXICATIA CU DENTOCALMIN

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Revista Romana de PEDIATRIE | Volumul LXI, Nr. 4, An 2012
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.

MANIFESTARI CLINICE IN INTOXICATIA CU DENTOCALMIN

, , , and

REZUMAT

Dentocalminul este un anestezic de contact, analgezic şi antiseptic utilizat pentru tratament local în stomatologie. Intoxicaţia cu această substanţă determină manifestări clinice grave datorate lidocainei şi fenolului, principalii constituenţi activi. Prezentăm cazul unui sugar de 11 luni intoxicat accidental cu dentocalmin, internat cu stare de rău convulsiv urmat de stop cardiorespirator. A fost resuscitat şi ventilat mecanic timp de 24 ore. Evoluţia a fost favorabilă, în pofida dozei toxice mari şi a complicaţiilor survenite ca urmare a intubării orotraheale – pneumotorax, pneumomediastin şi emfizem subcutanat cervical şi toracic, copilul fiind externat după 10 zile, cu stare generală bună, fără sechele neuropsihice.

Cuvinte cheie: dentocalmin, intoxicaţie, convulsii, stop cardiorespirator, copil

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Child with oncological diseases in intensive care unit

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Revista Romana de PEDIATRIE | Volumul LXI, Nr. 4, An 2012
ISSN 1454-0398  |  e-ISSN 2069-6175
ISSN-L 1454-0398
DOI: 10.37897/RJP

Indexed

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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.

Child with oncological diseases in intensive care unit

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ABSTRACT

Recently made advances in oncology have significantly improved the prognosis of children with neoplastic disease. Improvement of survival is accompanied by an increased risk of severe complications which may require intensive care. The aim of this study is the retrospective evaluation of the frequency of comorbidities that led to the transfer of patients from hematology- oncology department to intensive care unit in a period of 3 years. The study group consisted of 54 children (aged 9 month-17 years), representing 1,2 % from all admissions in hemato-oncology department during this period. LAL was the most frequent of hematologic malignancies admitted to intensive care unit (31% of cases). Respiratory failure was the main reason for transfer (23 cases-42,5%), followed by sepsis and shock (17 cases-31,4%). Oxygen (21 cases), electrolyte balancing (9 cases) and administration of inotropic agents like dopamine and / or dobutamine (6 cases) were the main specific treatments performed in intensive care. The mortality rate recorded in this group, in the intensive care unit was 27.7%, being smaller for solid tumors. Early recognition of signs of deterioration and admission to intensive care unit in a timely manner may improve prognosis, but the decision to transfer is delicate, involving the intensivist, the oncologist, the family and the patient, when he is able to.

Key words: neoplasia, intensive care, child

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COPILUL CU AFECTIUNI ONCOLOGICE IN TERAPIA INTENSIVA

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Revista Romana de PEDIATRIE | Volumul LXI, Nr. 4, An 2012
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.

COPILUL CU AFECTIUNI ONCOLOGICE IN TERAPIA INTENSIVA

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REZUMAT

Progresele făcute în oncologie în decursul ultimilor ani au ameliorat considerabil prognosticul copiilor cu afecţiuni neoplazice. Ameliorarea supravieţuirii se însoţeşte însă de o creştere a riscului de complicaţii severe pentru care pacientul poate necesita îngrijiri în terapie intensivă. Scopul acestui studiu constă în evaluarea retrospectivă, într-o perioadă de 3 ani, a frecvenţei unor comorbidităţi care au determinat transferul bolnavilor din secţia de hemato-oncologie în cea de terapie intensivă. Lotul de studiu a cuprins 54 de copii (vârsta 9 luni-17 ani) reprezentând 1,2% din totalul inernărilor în hemato-oncologie în intervalul menţionat. Dintre hemopatiile maligne admise în terapie intensivă a predominat LAL (31% din cazuri). Insuficienţa respiratorie a constituit principalul motiv de transfer (23 de cazuri – 42,5%), urmat de sepsis şi şoc (17 cazuri – 31,4%). Principalele tratamente specifice efectuate în terapie intensivă au fost oxigenoterapia (21 de cazuri), reechilibrarea hidroelectrolitică (9 cazuri) şi administrarea de agenţi inotropi tip Dopamină şi / sau Dobutamină (6 cazuri). Mortalitatea înregistrată la acest lot, în secţia de terapie intensivă a fost de 27,7%, fiind mai mică pentru tumorile solide. Recunoaşterea precoce a semnelor de agravare şi internarea în terapie intensivă în timp util pot duce la îmbunătăţirea prognosticului, însă această decizie de transfer este delicată, la ea trebuind să participe medicul de terapie intensivă, hemato-oncologul, familia şi pacientul, când acesta este capabil.

Cuvinte cheie: neoplazie, terapie intensivă, copil

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