5 research outputs found
The impact of System Marginal Price on the feasibility of the under design hydro pumped storage project in Amfilochia
Computational Analysis of BRCA1 Mutations in Pediatric Patients with Malignancies and Their Mothers BRCA1 and BRCA2 Mutations in Childhood ALL
Breast and ovarian cancers are the most prevalent type of malignancies
amongst women. Similar incidence appear in childhood malignancies, where
the basic ontogenetic mechanisms still remain to be elucidated. Such
approaches, of relating mother's cancer mutations with the prevalence of
childhood cancer in their offspring could prove useful in the prognosis,
early detection and therapy of childhood malignancies. The aim of the
present study was to use computational and bioinformatics tools to
investigate the incidence of mutations in mothers with children
suffering from neoplasms. Genes were examined for mutations and in
particular, those were BRCA1, RAS family genes, TP53 and FLT3. Mutations
were initially detected using PCR and multiplex Polymerase Chain
Reaction (PCR) methodologies. Gene expression was detected using
quantitative Reverse Transcription PCR (qRT-PCR) methodologies and
results have been confirmed with the sequencing method. Following
experimental analysis, bioinformatics analyses have been performed. In
the case of positive identification of mutations, molecular modelling
was used in order to study the effects of the mutations on the BRCA
protein and subsequent effects on binding to BARD1, a signaling molecule
down-stream of BRCA1, which participates in DNA repair pathways.
Concluding, it appeared that the presence of a mutation in the
aforementioned genes is not adequate for the disease to progress, yet it
can be considered as a serious factor for disease progression. Thus, it
appears that this phenomenon is of extreme interest and it should be
further investigated in a larger patient cohort
Hepatitis C Virus Infection, but Not Hepatic Iron Overload Is the Dominant Risk Factor for the Manifestation of Hepatocellular Carcinoma Among Greek Thalassemic Patients
National registry of hemoglobinopathies in Greece: updated demographics, current trends in affected births, and causes of mortality
National registries constitute an invaluable source of information and
contribute to the improvement of hemoglobinopathy management. Herein, we
present the second updated report of the National Registry for
Haemoglobinopathies in Greece (NRHG) and critically discuss the time
trends in demographics, affected births, and causes of mortality.
Thirty-eight Greek hemoglobinopathy units reported data from diagnosis
to the last follow-up or death by retrospectively completing an
electronic form. Four thousand thirty-two patients were eligible for
inclusion; more than half of them had thalassaemia major. Compared to
the previous report, a reduction in the total number of all
hemoglobinopathies except for hemoglobinopathy was evident. The total
number of affected births was also reduced; most of them were
attributable to diagnostic errors and lack of awareness. Importantly,
data on iron overload are reported for the first time; although most
patients had low or moderate liver iron concentration (LIC) values, a
non-negligible proportion of patients had high LIC. The burden due to
heart iron overload was less prominent. Cardiac- and liver-related
complications are the major causes of morbidity and mortality. From 2000
to 2015, a decrease in heart-related deaths along with an increase in
liver-associated fatalities was observed. The Hellenic Prevention
Program along with advances in chelation regimens and iron status
monitoring have resulted in improved patient outcomes. The NRHG gives
insight into the effectiveness of prevention programs, the therapeutic
management of hemoglobinopathies and associated outcomes. NRHG may
contribute to the formulation of a roadmap for hemoglobinopathies in
Europe and promote the implementation of effective public health
policies