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

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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

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