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

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

Adela CHIRITA-EMANDI, Andreea DOBRESCU, Maria PAPA and Maria PUIU

ABSTRACT

Background: Obesity is a major health burden worldwide. A method of assessing uncompressed subcutaneous adipose tissue thickness (USATT) using ultrasound is widely used in sports medicine. However, studies on the reliability of the method in non-athletic people are lacking. We aim to determine the reliability of the human observer in measuring the USATT in non-athletic people.

Material and method: Two young non-athletic, volunteers, having normal body mass, one male (24 years, BMI=21.6 kg/m2) and one female (31 years, BMI=20.73 kg/m2) were measured by 15 observers, 3 times, in 3 gender specific sites. There were 7 expert observers and 8 novices. We used a Hosand BX 2000 Ultrasonic Adipometer to measure USATT.

Outcomes: 91% of the measurement’s deviations from the mean were between -4 and 4 mm. Variance of deviation from mean measurements for novices was 5.93 mm, while for experts it was 5.40 mm. Standard error of measurement (SEM) and intraclass correlation coefficient (ICC) for calculated body fat percentage (BF%) (intra-observer SEM=0.78, ICC=0.98; inter-observer SEM=0.45, ICC=0.99) and for all the USATT measurements (intra-observer SEM=0.54, ICC=0.98; inter-observer SEM=0.75, ICC=0.96), showed excellent reliability. The expert observers showed slightly higher ICC and lower SEM values compared to novices.

Conclusion: The intra and inter-observer reliability of the adipometer was very good in measuring the USATT. There was no notable difference between expert and novice observers, thus suggesting that the method can be reliably used by anyone after a brief training, for both research and clinical practice.

Keywords: uncompressed subcutaneous adipose tissue thickness, non-athletic adults, ultrasound, reliability

Full text | PDF

Ramona STROESCU, Ioana MICLE, Otilia MARGINEAN, Teofana BIZEREA, Monica MARAZAN, Maria PUIU, Ciprian SIPOS and Gabriela DOROS

ABSTRACT

The “catch-up growth” phenomenon in children born small for gestational age (SGA) has been linked to early onset obesity with the subsequent emergence of metabolic syndrome (MetS). The intima media thickness of the common carotid artery (CIMT) is a well-known marker of subclinical atherosclerosis.

Aim: to determine the association between being born SGA and CIMT, a measure of atherogenesis and to investigate metabolic risk factors which impact on CIMT in obese children.

Material and methods: A prospective study was carried out over a 1 year period (July 2012-June 2013). We analyzed 122 obese patients, 96 patients appropriate for gestational age (AGA) and 26 patients SGA. Both groups were matched for age, sex and BMI. Blood pressure, lipids and glucose were determined. Oral glucose tolerance tests (oGTT) were performed. Insulin resistance (IR) was assessed by homeostasis model assessment (HOMA). CIMT was measured in all the patients.

Results: CIMT in obese children born SGA was significantly increased as compared with obese children born AGA similar age, sex and BMI (p=0.0035). We demonstrated a strong correlation between CIMT and all other metabolic factors (r=0.98). In both groups, mean CIMT of was significantly related to diastolic blood pressure, triglycerides and HOMA. CIMT was not significantly related to systolic blood pressure and baseline glucose.

Conclusion: High triglycerides levels and low HDL-cholesterol levels, IR and diastolic blood pressure, which are all components of MetS are strong predictors of increased CIMT in obese children. Being born SGA increases the atherogenic risk.

Keywords: small for gestational age, obesity, intima media thickness of the common carotid artery

Full text | PDF