Genetic assessment of familial and early-onset Parkinson's disease in a Greek population.

BACKGROUND AND PURPOSE: Although the first mutation associated with Parkinson's disease (PD) was identified several years ago in the alpha-synuclein (SNCA) gene in families of Greek and Italian ancestry, a more systematic study of this and other known PD mutations has not been performed in the Greek population. METHODS: A genetic analysis in 111 familial or sporadic with early-onset (≤50 years, EO) PD patients was performed for the presence of the A53T SNCA mutation. In separate subgroups of these patients, further mutations in the SNCA, LRRK2, Parkin, PINK1 and DJ-1 genes were searched for. Additionally, a subgroup of familial cases was analysed for mutations in the glucocerebrosidase (GBA) gene. RESULTS: In total, five patients (4.5% of our whole population) were identified with the A53T SNCA mutation, two with a heterozygote dosage mutation and one with a heterozygote point mutation in the Parkin gene, and seven patients (10.3% of our familial cohort) with GBA gene mutations. CONCLUSIONS: The A53T mutation in the SNCA gene, although uncommon, does represent a cause of PD in the Greek population, especially of familial EOPD with autosomal dominant inheritance. GBA mutations in the familial cohort tested here were as common as in a cohort of sporadic cases previously examined from the same centres. For the remainder of the genes, genetic defects that could definitively account for the disease were not identified. These results suggest that further Mendelian traits that lead to PD in the Greek population remain to be identified.

The level of teamwork as an index of quality in ICU performance.

BACKGROUND: The benefits of improved interdisciplinary collaboration in the health care section are well documented in the literature, including fewer errors and shorter delays and thus enhanced effectiveness and maximised patient safety. Given that the first step in improving teamwork involves uncovering individual team member's attitudes, this study was planned to investigate the level of collaboration, as part of organizational culture in the environment of ICU in Hippokratio Hospital. METHODS: Considering as team all the medical and nursing stuff necessary for the integraded care of the ICU-patient, all the ICU personnel was included in the study, as well as that of other cooperating clinical departments and labs of Hippokratio hospital. For the purpose of the study a questionnaire was adopted and was given to 250 individuals, 196 of which responded (response rate 78.4%). RESULTS: Responders, in general, valued teamwork as crucial for the performance of ICU. However, the study revealed a relative low consensus regarding the level of teamwork within each unit and inadequate collaboration between certain departments and ICU. Interestingly enough, most of the responders were willing to share responsibility but unwilling to share decision making or accept questioning of their actions. Finally, low consensus was also observed regarding the composition of the team, some responders (mostly clinicians) undervaluing the contribution of labs. Certain differences were detected across departments, as well as between physicians and nurses, the statistical significance of which is indicated. CONCLUSION: Although the benefits of teamwork are well understood, realization of effective cooperation seems to be yet too far from our interdisciplinary practice. Teaching of teamwork skills and team concepts should become part of our medical or nursing education and training, if we should want to achieve a substantial improvement of quality of healthcare services, especially in high risk areas such as the ICUs.

Association of repeat polymorphisms in the estrogen receptors alpha, beta (ESR1, ESR2) and androgen receptor (AR) genes with the occurrence of breast cancer.

Genetic variation in genes involved in estrogen biosynthesis, metabolism and signal transduction have been suggested to play a role in breast cancer. To determine the possible contribution of genetic variation in the ESR1 (ER-alpha), ESR2 (ER-beta) and AR genes in breast cancer risk the -1174(TA)(7-27), c. 1092+3607(CA)(10-26) and c. 172(CAG)(6-40) repeat variants were studied in a case-control study of 79 women with sporadic breast cancer and 155 controls. No significant difference was observed in the frequency distribution of -1174(TA)(7-27) in the ESR1 gene between patients and controls, while a significant difference was observed for repeat polymorphisms c. 1092+3607(CA)(10-26) in the ESR2 gene and c. 172(CAG)(6-40) in the AR gene (p0.0001). A significantly decreased odds ratio (OR) for breast cancer risk was observed in individuals having the LL and the SL genotypes for both the ESR2 (OR=0.010, 95% CI 0.003-0.036, p<0.001; OR=0.013, 95% CI 0.004-0.040, p<0.0001, respectively) and the AR gene (OR=0.040, 95% CI 0.011-0.138, p<0.0001; OR=0.189, 95% CI 0.10-0.359, p<0.0001, respectively), compared to SS genotype. The protective effect of these genotypes remained evident even after adjustment for various risk factors (BMI, age, age at menarche and menopause, family history). In conclusion, an association for breast cancer risk between short (SS) alleles for the repeat variants of the ESR2 and AR genes was found in women of Greek descent.