Eugen Pascal Ciofu

Latest posts by Eugen Pascal Ciofu (see all)

Malformative syndrome in patients with trisomy 21 - 27/07/2015
SINDROMUL MALFORMATIV LA PACIENTII CU TRISOMIE 21 - 27/07/2015
Hematological changes in patients with trisomy 21 - 23/07/2015

Articole semnate de acelasi autor in Revista Romana de Pediatrie:

Malformative syndrome in patients with trisomy 21

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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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.

Raluca Maria Vlad, Paula Grigorescu Sido, Simona Bucerzan, Camelia Al-Khzouz, Ioana Naşcu and Eugen Pascal Ciofu

ABSTRACT

Background and aims. Trisomy 21 is the most frequent autosomal chromosomopathy. The clinical picture includes dysmorphism, developmental delay and malformative syndrome. At present time, in Romania, the cytogenetic diagnosis is delayed. The aim of this study was to evaluate the current malformative syndrome and to correlate its elemets and the cytogenetic features.

Material and method. We conducted an observational study that included 136 patients with trisomy 21 recruited from the Department of Medical Genetics, Emergency Children’s Hospital, Cluj-Napoca and the Department of Pediatrics, “Grigore Alexandrescu” Emergency Children’s Hospital, Bucharest. The patients were evaluated recording the associated congenital malformations.

Results. In 91.2% of the cases the diagnosis of regular trisomy 21 was established. The cariogram was performed late, at a mean age of 1 year 6 months. 94.1% associated at least one congenital malformation, 36.8% having four or more. In descending order of the frequency, the following malformations were described: osteo-articular, cutaneous, cardiac, of male genitalia, digestive, reno-urinary, muscular, ocular, respiratory and of the thyroid in: 86%; 66.2%; 52.2%; 21.7%; 18.4%; 8.1%; 8.1%; 7.4%; 2.9% and 1.5% respectively. No significant differences were found between regular and mosaic trisomy 21.

Conclusions. The clinical picture of trisomy 21 is going through some changes lately, regarding the malformative syndrome, the prevalence we communicate for some of the specific congenital malformations is lower; in 5.9% of the cases no congenital malformations were associated. No significant differences were found in relation to the cytogenetic diagnosis.

Key words: trisomy 21, malformative syndrome

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Raluca Maria Vlad

SINDROMUL MALFORMATIV LA PACIENTII CU TRISOMIE 21

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

ICMJE- Recommendations

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

Promoting Global Health

Raluca Maria Vlad, Paula Grigorescu Sido, Simona Bucerzan, Camelia Al-Khzouz, Ioana Naşcu and Eugen Pascal Ciofu

REZUMAT

Obiective. Trisomia 21 este cea mai frecventă cromozomopatie autozomală. Tabloul clinic cuprinde dismorfism, retard în dezvoltare şi sindrom malformativ. În prezent, în România diagnosticul citogenetic se stabileşte tardiv. Studiul de faţă şi-a propus evaluarea sindromului malformativ actual şi corelarea elementelor acestuia cu modificările citogenetice.

Material şi metodă. Am efectuat un studiu observaţional în care au fost incluşi 136 de pacienţi cu trisomie 21 provenind din Compartimentul Genetică al Spitalului Clinic de Urgenţă pentru Copii, Cluj-Napoca, şi din Clinica Pediatrie a Spitalului Clinic de Urgenţă pentru Copii „Grigore Alexandrescu“, Bucureşti. Pacienţii au fost evaluaţi din punct de vedere al malformaţiilor congenitale asociate.

Rezultate. În 91,2% dintre cazuri s-a stabilit diagnosticul de trisomie 21 omogenă. Cariograma a fost efectuată tardiv, în medie la 1 an 6 luni. 94,1% au asociat cel puţin o malformaţie congenitală, 36,8% numărând patru sau mai multe. Au fost prezente în ordine descrescătoare a frecvenţei următoarele malformaţii: osteoarticulare, tegumentare, cardiace, genitale masculine, digestive, reno-urinare, musculare, oculare, ale aparatului respirator si tiroidiene la: 86%; 66,2%; 52,2%; 21,7%; 18,4%; 8,1%; 8,1%; 7,4%; 2,9% şi respectiv 1,5%. Nu s-au evidenţiat diferenţe semnificative între pacienţii cu trisomie 21 omogenă şi cei cu mozaicism.

Concluzii. Tabloul clinic la pacienţii cu trisomie 21 a suferit modificări în ceea ce priveşte sindromul malformativ, prevalenţa constatată a unora dintre malformaţiile considerate specifice fiind mai mică sau malformaţiile lipsind la 5,9% dintre pacienţi. Nu au existat diferenţe în funcţie de modificările citogenetice constatate.

Cuvinte cheie: trisomia 21, sindrom malformativ

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Raluca Maria Vlad

Hematological changes in patients with trisomy 21

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

ICMJE- Recommendations

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

Promoting Global Health

Raluca Maria Vlad, Paula Grigorescu Sido, Simona Bucerzan, Camelia Al-Khzouz, Ioana Naşcu and Eugen Pascal Ciofu

ABSTRACT

Background and aims. Children with trisomy 21 have an increased risk of hematological anomalies. The aim of the study was to evaluate the hematological characteristics of these patients and to correlate them with the cytogenetic findings.

Material and method. We conducted an observational study on 136 patients with trisomy 21 that were evaluated recording a complete hematological picture. The individual parameters for each patient were compared with reference values for age and were statistically evaluated considering the age groups and the cytogenetic anomalies.

Results. In 91.2% of the cases the diagnosis of regular trisomy 21 was established. 58.08% of patients had at least one hematological anomaly. 8.82% and 2.2% associated 2 or 3 anomalies respectively. No differences regarding the hematological parameters were found between patients with regular trisomy 21, mosaic or a combination of anomalies. 16.9% of patients presented with a form of anemia: macrocytic anemia and iron deficiency anemia 5.14% each. A tendency to lower than normal leukocyte counts for all age groups was recorded. The patients associated thrombocytopenia and thrombocytosis with the same frequency (3.67%). 1.47% developed acute leukemia.

Conclusions. 58% of patients in all age groups and 100% of newborns with trisomy 21 had at least one hematological anomaly. The most frequent were leukopenia (17.61%), anemia (16.91%) and macrocytosis (16.91%). No significant differences were found in relation to the cytogenetic diagnosis.

Key words: trisomy 21, hematological changes

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Raluca Maria Vlad

MODIFICARI HEMATOLOGICE LA PACIENTII CU TRISOMIE 21

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

ICMJE- Recommendations

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

Promoting Global Health

Raluca Maria Vlad, Paula Grigorescu Sido, Simona Bucerzan, Camelia Al-Khzouz, Ioana Naşcu and Eugen Pascal Ciofu

REZUMAT

Obiective. Pacienţii cu trisomie 21 au risc crescut de anomalii hematologice. Studiul şi-a propus evaluarea caracteristicilor hematologice ale acestor pacienţi şi corelarea lor cu modificările citogenetice. Material şi metodă. Am efectuat un studiu observaţional pe 136 pacienţi cu trisomie 21 evaluaţi hematologic. Rezultatele individuale au fost interpretate în funcţie de valorile normale pentru vârstă şi au fost prelucrate statistic pe grupe de vârstă şi în funcţie de modificările citogenetice constatate. Rezultate. În 91,2% dintre cazuri s-a stabilit diagnosticul de trisomie 21 omogenă. 58,08% au prezentat cel puţin o anomalie hematologică. 8,82% şi 2,2% au asociat câte 2, respectiv 3 anomalii. Nu s-au evidenţiat diferenţe între parametrii hematologici ai pacienţilor cu trisomie 21 omogenă şi cei cu mozaicism sau combinaţii de anomalii. 16,91% au prezentat o formă de anemie: macrocitară şi feriprivă în procente egale (5,14%). S-a constatat tendinţa la valori mai scăzute ale leucocitelor pentru toate vârstele. Pacienţii au asociat trombocitopenie şi trombocitoză cu aceeaşi frecvenţă (3,67%). 1,47% au dezvoltat leucemie acută. Concluzii. 58% dintre pacienţii de toate vârstele şi 100% dintre nou-născuţii cu trisomie 21 au prezentat cel puţin o anomalie hematologică. Cele mai frecvente anomalii hematologice constatate au fost leucopenia (17,61%), anemia (16,91%) şi macrocitoza (16,91%). Nu au existat diferenţe ale parametrilor hematologici în funcţie de modificările citogenetice.

Cuvinte cheie: trisomia 21, modificări hematologice

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Raluca Maria Vlad

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Eugen Pascal Ciofu

Latest posts by Eugen Pascal Ciofu (see all)

Articole semnate de acelasi autor in Revista Romana de Pediatrie:

Malformative syndrome in patients with trisomy 21

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