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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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

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