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Bogdan Mehedintu

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Articole semnate de acelasi autor in Revista Romana de Pediatrie:

SINDROMUL MARSHALL (PFAPA). EXPERIENTA CLINICII DE PEDIATRIE SIBIU

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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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SINDROMUL MARSHALL (PFAPA). EXPERIENTA CLINICII DE PEDIATRIE SIBIU

and

REZUMAT

PFAPA este boală autoinflamatorie cronică caracterizată prin febră recurentă, stomatită aftoasă, faringită şi ade no patie. Autorii prezintă particularităţile diagnostice şi evolutive ale pacienţilor diagnosticaţi cu PFAPA, precum şi pattern-ul citokinic al acestora. Au fost incluşi în studiu 22 de pacienţi cu sindrom Marshall. S-a analizat pentru întregul lot vârsta de debut a simptomatologiei, durata dintre puseele febrile, durata de la debut la stabilirea diagnosticului, informaţii despre bilanţul inflamator. Legat de profilul citokinic, au fost comparate 2 loturi: „lotul PFAPA“ incluzând pacienţi între pusee şi „lotul non-PFAPA“ incluzând copii sănătoşi (lot martor). S-a studiat bilanţul inflamator şi nivelul citokinelor pro-inflamatorii/anti-inflamatorii pentru cele 2 loturi, în vederea iden tificării unui marker biologic sensibil pentru evoluţia bolii. Datele au fost analizate statistic utilizând „sample t test“. Rezultate. S-a remarcat indexul de suspiciune redus pentru PFAPA, boala fiind subdiagnosticată, iar diagnosticul stabilindu-se cu întârziere. Din analiza comparativă a bilanţului inflamator şi citokinic, s-a observat creşterea semnificativă a valorilor proteinei C reactive la lotul PFAPA versus lot martor, confirmând valoarea prognostică a acestei investigaţii pentru pacienţi în perioada intercritică. Concluzii. Diagnosticul PFAPA se stabileşte tardiv. Proteina C reactivă rămâne un marker sensibil pentru evoluţia bolii, chiar şi între puseele de activitate.

Cuvinte cheie: sindromul Marshall, copil

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MARSHALL SYNDROME (PFAPA). EXPERIENCE OF PEDIATRIC CLINIC FROM SIBIU

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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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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

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MARSHALL SYNDROME (PFAPA). EXPERIENCE OF PEDIATRIC CLINIC FROM SIBIU

and

ABSTRACT

PFAPA is a chronic condition including recurrent fever episodes, aphthous stomatitis, pharyngitis and adenitis. The authors emphasize peculiarities regarding diagnosis, evolution and citokinic profile for PFAPA patients. 22 patients with PFAPA were included in study. Patients that fulfilled diagnosis criteria were analyzed regarding symptoms onset age, period of time between episodes and between disease onset and diagnosis and also data about inflammatory status. Authors compared 2 groups: “PFAPA group” including 6 patients (between febrile episodes) and “Non-PFAPA group” including 4 healty children. Both gropus were analyzed regarding serum levels of inflammatory markers and cytokines in order to identify a biological sensitive marker for PFAPA evolution pattern. Data was statistically analyzed using “independent sample t test”. Results. Authors noticed a low suspicion index for PFAPA diagnosis (underdiagnosed disorder) and significant statistical differences between the 2 groups regarding C reactive protein (CRP) serum value. Conclusions. PFAPA diagnosis is established lately, so it’s useful to disseminate information about disease. CRP remains a sensitive marker for disease activity in PFAPA patients, even out of fever attacks.

Key words: Marshall syndrome, child

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SINDROMUL LEOPARD. CAZURI FAMILIALE

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Revista Romana de PEDIATRIE | Volumul LXIII, Nr. 1, 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.

SINDROMUL LEOPARD. CAZURI FAMILIALE

, , and

REZUMAT

Sindromul LEOPARD este o afecţiune ce include multiple anomalii dismorfogenetice. Sindromul LEOPARD, ca şi sindromul Noonan, este determinat de mutaţii ale genei PTPN11. Autorii menţionează particularităţile diagnostice la 2 cazuri înrudite cu dismorfism facial. Cazul index este reprezentat de băiat de 10 ani evaluat pentru dis morfism cranio-facial asociat cu retard mental. Antecedente heredo-colaterale: fără consangvinitate; tatăl pa cientului şi soră cu dismorfism facial. Examenul clinic: retard staturo-ponderal, pistrui axilari, pete café- au-lait diseminate, dismorfism facial, pterigium coli, anomalii scheletice, retard mental. Investigaţiile sangvine şi eco-cardiografia: fără modificări. Pentru diagnosticul diferenţial s-au considerat sindroamele Noonan, Greig, neuro fibromatoza tip 1, sindromul Mc Cune-Albright. Evaluarea genetică: cariotip normal; secvenţierea genei PTPN11 a relevat mutaţia ce confirmă sindromul LEOPARD. Analiza genetică a relevat aceeaşi mutaţie la tatăl pa ci entului. Concluzii. Autorii au descris 2 cazuri familiale cu craniu dismorf, anomalii scheletice, pigmentaţia pielii, dizabilităţi mentale şi statură mică, justificând evaluarea genetică care a identificat o afecţiune genetică foarte rară.

Cuvinte cheie: sindromul Leopard, copil

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LEOPARD SYNDROME. FAMILIAL CASES

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Revista Romana de PEDIATRIE | Volumul LXIII, Nr. 1, 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.

LEOPARD SYNDROME. FAMILIAL CASES

, , and

ABSTRACT

LEOPARD syndrome is a complex disorder characterized by multiple dysmorphogenetic features. Both syndromes LEOPARD and Noonan are caused by different mutations in the same gene (PTPN11). Authors emphasize diagnosis peculiarities in two related cases with facial dysmorphism. Index case is represented by a 10 year-old boy admitted for evaluation because of cephalofacial dysmorphism associated with mental disabilities. Family history: non-consanguineous parents; the father’s case and his sister with face dysmorphism. Clinical exam: short stature, impaired nutritional status, axillary freckles, widespread café-au-lait spots, face dysmorphism, webbed neck, skeletal anomalies and mental retardation. Blood investigations and cardiac ultrasonography: no anomalies. Differential diagnosis includes Noonan syndrome, Greig syndrome, type 1 neurofibromatosis, Albright syndrome. Regarding patient genetic evaluation: normal karyotype; DNA sequencing revealed mutation in PTPN11 gene suggestive for LEOPARD syndrome. Authors also found same mutation for probant’s father. Conclusions. Authors described two cases with dysmorphic skull, skeletal anomalies, skin pigmentation, mental disabilities and short stature, justifying further genetic evaluation that revealed a very rare disorder.

Keywords: Leopard syndrome, child

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DIFICULTATI DE DIAGNOSTIC IN HEPATOPATIA CRONICA SEVERA CU DEBUT PRECOCE. PREZENTARE DE CAZ

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Revista Romana de PEDIATRIE | Volumul LXIII, Nr. 2, 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.

DIFICULTATI DE DIAGNOSTIC IN HEPATOPATIA CRONICA SEVERA CU DEBUT PRECOCE. PREZENTARE DE CAZ

, and

REZUMAT

Autorii subliniază dificultăţile de diagnostic şi tratament la un caz cu hepatopatie severă idiopatică şi evoluţie cronică. Pacientul a fost internat în repetate rânduri pentru insuficienţă hepatică severă şi sângerări gastrointestinale începând cu vârsta de sugar, odată cu introducerea alimentaţiei complementare. Datele anamnestice şi de explorare, ca şi răspunsul favorabil la dieta fără fructoză, au sugerat evoluţia unei intoleranţe ereditare la fructoză.

Cuvinte cheie: insuficienţă hepatică, fructozemie ereditară, copil

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DIAGNOSIS DIFFICULTIES IN SEVERE AND CHRONIC HEPATOPATHY WITH EARLY ONSET. CASE REPORT

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Revista Romana de PEDIATRIE | Volumul LXIII, Nr. 2, An 2014
ISSN 1454-0398  |  e-ISSN 2069-6175
ISSN-L 1454-0398
DOI: 10.37897/RJP

Indexed

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Similarity Check by iThenticate, worldwide No 1 professional plagiarism checking system
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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.

DIAGNOSIS DIFFICULTIES IN SEVERE AND CHRONIC HEPATOPATHY WITH EARLY ONSET. CASE REPORT

, and

ABSTRACT

Authors emphasize diagnosis and treatment difficulties in a patient with severe and chronic idiopathic hepatopathy. Authors present a 5 year-old male frequently admitted for severe acute liver failure episodes with severe gastrointestinal bleedings that occurred in infancy after diet diversification. Hystory case correlated with investigations and liver function improvement after fructose-free diet initiation led to congenital fructosemia diagnosis.

Keywords: hepatic failure, congenital fructose intolerance, child

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