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Nicoleta ANDREESCU

Latest posts by Nicoleta ANDREESCU (see all)

    Articles signed on MÆDICA, JCM:

    Does the Genetic Cause of Prader-Willi Syndrome Explain the Highly Variable Phenotype?

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    MÆDICA - a Journal of Clinical Medicine | Vol. 11, nr. 3, 2016
    ISSN 1841-9038  |  e-ISSN 2069-6116
    ISSN-L 1841-9038
    CNCSIS - CMR - B+

    HIGHLIGHTS

    Plagiatul – in actualitate

    Tema plagiatului este tot mai mult discutata in ultima vreme. Aparitia unor programe performante de cautare si identificare a similitudinilor intre texte [...]

    Committe on Publication Ethics

    A forum for responsible and ethical research publishing – Code of Conduct and Best Practice Guidelines for Journal Editors.

    Members Area


    Does the Genetic Cause of Prader-Willi Syndrome Explain the Highly Variable Phenotype?

    Andreea-Iulia DOBRESCU, Adela CHIRITA-EMANDI, Nicoleta ANDREESCU, Simona FARCAS and Maria PUIU

    ABSTRACT

    Introduction: Prader-Willi syndrome (PWS) is characterized by extensive clinical and genetic variability caused by lack of expression of imprinted genes of the chromosomal region 15q11.2-q13. The genotye-phenotype correlation has not been yet fully elucidated.
    Aim: To analyze these correlations in order to determine the role of specific geneic alterations in the development of clinical symptoms in PWS.
    Material and method: We retrospectively analyzed data routinely collected as part of the clinical care of 52 patients with clinical suspicion of PWS. FISH test was performed in all patients; in case of negative results, methylation test was performed.
    Results: PWS was confirmed in 35 patients that were divided in two groups according to the genetic cause of PWS: group A-21 patients with 15q11-q13 region deletion, mean age at evaluation 8.1 years (SD= 5.6) and mean of clinical score 9.4 ± 1.8; group B-14 patients with positive methylation test, with mean age at evaluation 6.7 years (SD= 4.6) and mean of clinical score 10.1 ± 1.9. Facial dysmorphism and neonatal hypotonia were present in all evaluated patients; while, higher frequency of major and minor PWS criteria were noted in the group A. Onset of hyperphagia, was around the age of 2 years in most patients, however one patient from group B had normal eating behavior and normal weight beyond age 5 years.
    Conclusion: In our study, the various genotypes did not seem to explain the diff erence in phenotype in PWS patients. We found a delayed time until diagnosis in these patients, although all had neonatal hypotonia and other suggestive phenotypic features, underlining once more the need for increased awareness of this syndrome, as well as easier accessibility to genetic counseling.
    Keywords: Prader Willi syndrome, hyperphagia, obesity, genotype, chromosome 15, uniparental disomy

    Full text | PDF

    Refractive and Visual Outcome after Laser-Treated Retinopathy of Prematurity in Western Romania

    SELECT ISSUE

    MÆDICA - a Journal of Clinical Medicine | Vol. 11, nr. 2, 2016
    ISSN 1841-9038  |  e-ISSN 2069-6116
    ISSN-L 1841-9038
    CNCSIS - CMR - B+

    HIGHLIGHTS

    Plagiatul – in actualitate

    Tema plagiatului este tot mai mult discutata in ultima vreme. Aparitia unor programe performante de cautare si identificare a similitudinilor intre texte [...]

    Committe on Publication Ethics

    A forum for responsible and ethical research publishing – Code of Conduct and Best Practice Guidelines for Journal Editors.

    Members Area


    Refractive and Visual Outcome after Laser-Treated Retinopathy of Prematurity in Western Romania

    Florina STOICA, Corina LADARIU, Marie-Jeanne KOOS, Alina STANCIU, Gabriela OLARIU, Nicoleta ANDREESCU and Maria PUIU

    ABSTRACT

    Objectives: The aim of this study is to assess the functional outcomes registered in patients from the Western part of Romania, who have been treated for retinopathy of prematurity, using a laser diode
    (810mn).

    Material and Methods: In the current study 52 premature infants with gestational age<34 weeks and a birth weight <2000 grams, 96 eyes in total were included. The functional outcomes were assessed by determining the best corrected visual acuity and refractive error. Statistical analysis used: The data were analysed using the IBM SPSS 20 software. Pearson Correlation was used to assess the strength of the relation between different parameters.

    Outcomes: For the eyes with the best visual function (BCVA between 0.8 and 1.0), mean gestational age was 29,452 weeks (SD = 1.958), mean weight at birth was 1363.38 grams (SD = 304.655), the mean energy used during treatment was 370.73 mW (SD = 95.972), and the mean number of burns applied was 1470.44 (SD = 581.960). The spherical equivalent ranged between -24.6 D and +3.4 D. High astigmatism (>3.0 D) was found in 26 eyes (27.08 %) and anisometropia in 29 patients (55.77%). There is a strong positive correlation, statistically significant (P<0.001) between best corrected visual acuity and spherical equivalent, and a negative correlation, statistically significant (P=0.001), between best corrected visual acuity and the number of impacts during laser treatment.

    Conclusions: A long term follow-up is necessary in order to obtain an improvement in the quality of life and visual function of the patients who received laser treatment for retinopathy of prematurity.

    Keywords: diode laser, functional outcome, refractive error, retinopathy of prematurity, preterm infants

    Full text | PDF

    Retrospective Study on Osteosarcoma and Ewing Sarcoma – Our Experience

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    MÆDICA - a Journal of Clinical Medicine | Vol. 9, nr. 2, 2014

    ISSN 1841-9038  |  e-ISSN 2069-6116
    ISSN-L 1841-9038
    CNCSIS - CMR - B+

    Retrospective Study on Osteosarcoma and Ewing Sarcoma – Our Experience

    Daniela NEDELCU, Nicoleta ANDREESCU, Estera BOERIU, Radu STEFANESCU, Smaranda ARGHIRESCU and Maria PUIU

    ABSTRACT

    Introduction: Primary bone tumors are relatively rare types of cancer. Their relative frequency is not yet well established and still there is more information needed regarding the evolution and prognosis of those patients.

    Objectives: We analyzed several factors (site of lesion, tumor stage, tumor volume, disease related complications, therapy related complications) that influenced the evolution of bone tumor in a lot of patients diagnosed with osteosarcoma or Ewing sarcome.

    Material and methods: A retrospective review was conducted on hospital-based registry from the Emergency Hospital for Children “Louis Turcanu” Timisoara. Patients with newly diagnosed osteosarcoma and Ewing sarcoma, hospitalised in our clinic during a period of 10 years (1996-2006) were included. Records were analyzed for patient demographics, site of lesion, treatment and outcomes. The study group was composed of 36 patients with bone tumors, with ages betwen 3-23 years, who came from Timis and several counties around it.

    Results: We found Ewing Sarcoma (ES) in 52.94% of cases and osteosarcoma (OS) in 47.06% of cases analyzed. We found diseases in advanced stages in 33.3% of cases in stage III and in 27.7% in stage IV. Tumoral volume had more than 200 cm3 in 53.3% of OS patients and in 21% of cases of ES. Treatment was accomplished according to the European protocols, COSS 96 in 66.6% of OS cases, EWING 99 in 73.6% of ES cases. Disease related complications were found in 26.6% of OS cases and in 51% of ES patients.

    Conclusion: In this study, the patients survival rate at 5 years after diagnosis was lower than in other studies. A possible explaination for such a high rate of mortality could be the delayed diagnosis and the advanced stage of the neoplasia, especially for Ewing sarcoma where only 16.66% of the patients were stage I or II. For the short time survival it was found a corelation with the period of time between the simptoms appearance and the moment of diagnosis, tumor stage, metastasis and severity of the complications.

    Full text | PDF



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