Claudia Bănescu

Latest posts by Claudia Bănescu (see all)

HEMIHIPERTROFIA IZOLATA LA SUGAR - 23/02/2017
ISOLATED HEMIHYPERTROPHY IN CHILD - 23/02/2017
A case of giant hydronephrosis associated with arterial hypertension - 29/07/2015

Articole semnate de acelasi autor in Revista Romana de Pediatrie:

HEMIHIPERTROFIA IZOLATA LA SUGAR

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

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.

Lorena Elena Melit, Cristina Oana Mărginean, Claudia Bănescu, Raluca Damian, Andreea Dinca and Claudiu Mărginean

REZUMAT

Hemihipertrofia sau hemihiperplazia este o boală congenitală rară, a cărei incidenţă este dificil de estimat din cauza faptului că asimetria este foarte uşoară în multe cazuri, rămânând astfel nediagnosticate. Hemihiperplazia poate fi izolată sau asociată unor sindroame genetice. Prezentăm cazul unui sugar, de sex feminin, în vârstă de 6 luni, la care în perioada perinatală s-a ridicat suspiciunea unei hemihipertrofii congenitale, internându-se în clinica noastră din cauza prezenţei unei asimetrii faciale. Examenul obiectiv a scos în evidenţă, de asemenea, pe lângă hemihiperplasia hemifeţei drept, mai evidentă la nivelul frunţii, o hipertrofie a membrului superior şi inferior drepte. Analizele de laborator au identificat o uşoară anemie, nivele crescute ale transaminazelor, precum şi al alfa-fetoproteinei. Ecografia abdominală a decelat uşoară hepatomegalie, iar cea transfontanelară discretă ventriculomegalie şi atrofie frontală. Testul genetic a fost negativ, astfel că diagnosticul final a fost de hemihipertrofie izolată. Reevaluările ulterioare au arătat un nivel al alfa-fetoproteinei în scăderea, fără alte elemente patologice adiţionale. Particularitatea cazului constă în diagnosticarea unei hemihipertrofii izolate la un sugar de 6 luni, cu test genetic negativ, la care s-a observat o uşoară asimetrie facială în momentul naşterii, cu evoluţie ulterioară favorabilă, cu scădere progresivă a nivelului alfa-proteinei şi ecografie abdominală normală.

Cuvinte cheie: hemihipertrofie izolată, hemihiperplazie izolată, sugar, alfa-fetoproteina

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Lorena Elena Melit

ISOLATED HEMIHYPERTROPHY IN CHILD

ISSN 1454-0398 | e-ISSN 2069-6175
ISSN-L 1454-0398
DOI: 10.37897/RJP

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

Lorena Elena Melit, Cristina Oana Mărginean, Claudia Bănescu, Raluca Damian, Andreea Dinca and Claudiu Mărginean

ABSTRACT

Hemihypertrophy or hemihyperplasia is a rare congenital condition, whose incidence is difficult to estimate, due to the fact that asymmetry is very mild, therefore remaining undiagnosed. Hemihyperplasia can be isolated or associated to certain genetic syndromes. We present the case of a 6-months-old female infant, in whom, during the neonatal period, was raised the suspicion of a congenital hemihypertrophy. She was admitted in our clinic due to the presence of a facial asymmetry. The clinical exam revealed also, besides the hemihyperplasia of the right hemiface more obvious at the level of the forehead, a hypertrophy of the right superior and inferior limbs. The laboratory tests identified a mild anemia, increased levels of transaminases and alfa-fetoprotein. The abdominal ultrasound revealed a mild hepatomegaly and the transfontanellar one discrete ventriculomegaly and frontal atrophy. The genetic test was negative, therefore the final diagnosis was of isolated hemihypertrophy. The further re-evaluations showed a decreasing level of alfa-fetoprotein, without other additional pathological elements. The particularity of the case consists in diagnosing an isolated hemohypertrophy in a 6-month-old female infant, with negative genetic test, in whom it was observed at the moment of birth a mild facial asymmetry, with afterwards favorable evolution, with progressive decrease of the alfa-fetoprotein level and normal abdominal ultrasound.

Keywords: isolated hemihypertrophy, isolated hemihyperplasia, infant, alfa-fetoprotein

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Lorena Elena Melit

A case of giant hydronephrosis associated with arterial hypertension

Revista Romana de PEDIATRIE | Volumul LXI, Nr. 2, An 2012

ISSN 1454-0398 | e-ISSN 2069-6175
ISSN-L 1454-0398
DOI: 10.37897/RJP

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

Carmen Duicu, Claudia Bănescu, Iolanda Muntean, Oana Marginean and Horea Gozar

ABSTRACT

Cases of giant hydronephroses are rare and usually contain no more than 1-2 liters of fluid in the collecting system. We report a case of giant hydronephrosis with secondary transitory arterial hypertension. An overweight 14-year-old boy was incidentally discovered with high blood pressure at a routine medical visit. Medical history was unremarkable. Abdominal ultrasound revealed a giant cystic tumor fi lling over then 50% of abdominal cavity. Although both clinical symptoms and physical exam were poor and arterial hypertension seemed obesityinduced, finally high blood pressure was secondary to the giant hydronephrosis. Therefore, any abdominal cystic mass even in the absence of other evident pathologies should include the differential diagnosis of a possible hydronephrosis.

Key words: giant hydronephrosis, hypertension, child

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Carmen Duicu

UN CAZ DE HIDRONEFROZA GIGANTA ASOCIATA CU HIPERTENSIUNE ARTERIALA

ISSN 1454-0398 | e-ISSN 2069-6175
ISSN-L 1454-0398
DOI: 10.37897/RJP

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

Carmen Duicu, Claudia Bănescu, Iolanda Muntean, Oana Marginean and Horea Gozar

REZUMAT

Cazurile de hidronefroză gigantă sunt rare şi, de obicei, nu conţin mai mult de 1-2 litri de lichid în sistemul colector. Prezentăm un caz de hidronefroză gigantă însoţită de hipertensiune arterială (HTA) tranzitorie secundară. Cu ocazia unui examen de rutină, unui pacient de 14 ani, supraponderal, i-au fost descoperite valori crescute ale teniunii arteriale. Istoricul medical a fost nesemnificativ. Ecografia abdominală a evidenţiat o tumoră chistică gigantă ce ocupa peste 50% din cavitatea abdominală. Deşi simptomele clinice cât şi examenul fizic au fost sărace, iar iniţial HTA părea indusă de obezitate, în cele din urmă HTA s-a dovedit a fi secundară hidronefrozei gigante. Prin urmare, diagnosticul diferenţiar al unei formaţiuni abdominale chistice, chiar şi în absenţa altor patologii evidente, ar trebui să includă o posibilă hidronefroză.

Cuvinte cheie: hidronefroză gigantă, hipertensiune, copil

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Carmen Duicu

Maple urine syrup disease – two cases presentations

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

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

Cristina Oana Mărginean, Carmen Duicu, Claudia Bănescu and Ana Maria Pitea

ABSTRACT

Maple urine syrup disease (MSUD) is part of a heterogenous group of inborn errors of metabolism.

The aim of the paper was to present 2 cases of MSUD diagnosed in our clinic, their evolution and response to treatment.

Patients and method. The diagnosis was documented by determining serum and urinary aminoacids. Each case was examined and evaluated in dynamics in terms of clinical, laboratory, treatment and evolution.

Results. The MSUD onset-age in the first case was in the 5th-6h days and 3rd week for the second case (both were breastfed). The onset of clinical manifestations: lethargy, apathy, adinamy(first case), drowsiness, capping the eyes, hypotonia(second case); capricious appetite/eating disorders in both cases, intercurrent symptoms (cough, rhynorrhea in the second case, probably urosepsis in the first case).

Evolution: the first case who had a severe type: associated drowsiness, generalized weakness, sometimes alternating with bouts of tonic contractions/rigidity, tendency to opistotonus, changes in reflexes, trismus, needing mechanical ventilation and ultimately death; the second case (a milder type) had a favorable evolution dependent on hygienic-dietary and drug-treatment.

Conclusions. Since postnatal infants are apparently clinically healthy, there are no genotype-phenotype correlation, in many countries it has been added in the neonatal screening of metabolic diseases. Early diagnosis, along with specific treatment can prevent complications allowing a normal intellectual development of children with such defects.

Key words: maple urine syrup disease (MSUD), metabolic disease, child

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Cristina Oana Mărginean

BOALA URINILOR CU MIROS DE SIROP DE ARTAR – DOUA PREZENTARI DE CAZ

ISSN 1454-0398 | e-ISSN 2069-6175
ISSN-L 1454-0398
DOI: 10.37897/RJP

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

Cristina Oana Mărginean, Carmen Duicu, Claudia Bănescu and Ana Maria Pitea

REZUMAT

Boala urinilor cu miros de sirop de arţar face parte dintr-un grup heterogen de afecţiuni, respectiv erorile înnăscute de metabolism. Scopul lucrării. Ne propunem să prezentăm 2 cazuri diagnosticate în clinica noastră, urmărirea evoluţiei şi a răspunsului la tratament.

Material şi metodă. Diagnosticul s-a documentat prin determinarea amino-acizilor serici şi urinari. Fiecare caz a fost analizat, urmărindu-se în dinamică datele anamnestice, examenul clinic, examinări paraclinice şi de laborator, scheme terapeutice, evoluţie.

Rezultate. Vârsta la debutul tipic în primul caz, adică în zilele 5-6 de viaţă, şi la 3 săptămâni de viaţă la al doilea caz (deşi în ambele cazuri alimentaţia era naturală).

Manifestările clinice la debut. Tabloul neurologic: letargie, apatie, adinamie (primul caz), somnolenţă, plafonarea privirii, hipotonie (cazul 2); apetit capricios/ tulburări de alimentaţie (acumularea AA şi a metaboliţilor acestora), în ambele cazuri; simptomatologia intercurenţei (tuse, rinoree la cazul 2; probabil ITU/ urosepsis în primul caz).

Evoluţie. Primul caz, prezentând o formă severă asociază somnolenţă, hipotonie generalizată, uneori alternând cu crize de contractură tonică/rigiditate, trismus, cu necesitatea ventilaţiei mecanice şi în final deces; al doilea caz, cu o formă mai uşoară, a avut evoluţie favorabilă dependentă de tratament igienodietetic şi medicamentos.

Concluzii. Deoarece postnatal nou-născuţii sunt aparent sănătoşi din punct de vedere clinic, neexistând o corelaţie fenotip-genotip, în multe ţări a fost adăugată în screening-ul neonatal al afecţiunilor metabolice. Diagnosticul precoce, alături de regimul specific, poate preveni complicaţiile, permiţând astfel o dezvoltare intelectuală normală a copiilor purtători ai acestor defecte.

Cuvinte cheie: boala urinilor cu miros de sirop de arţar, leucinoză, boală metabolică, copil

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Cristina Oana Mărginean

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Claudia Bănescu

Latest posts by Claudia Bănescu (see all)

Articole semnate de acelasi autor in Revista Romana de Pediatrie:

HEMIHIPERTROFIA IZOLATA LA SUGAR

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