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Recent studies in empirical population genetics have highlighted the importance of taking into account both neutral and adaptive genetic variation in characterizing microevolutionary dynamics. Here, we explore the genetic population structure and the footprints of selection in four populations of the warm-temperate coastal fish, the gilthead sea bream (Sparus aurata), whose recent northward expansion has been linked to climate change. Samples were collected at four Atlantic locations, including Spain, Portugal, France and the South of Ireland, and genetically assayed using a suite of species-specific markers, including 15 putatively neutral microsatellites and 23 expressed sequence tag-linked markers, as well as a portion of the mitochondrial DNA (mtDNA) control region. Two of the putatively neutral markers, Bld-10 and Ad-10, bore signatures of strong directional selection, particularly in the newly established Irish population, although the potential 'surfing effect' of rare alleles at the edge of the expansion front was also considered. Analyses after the removal of these loci suggest low but significant population structure likely affected by some degree of gene flow counteracting random genetic drift. No signal of historic divergence was detected at mtDNA. BLAST searches conducted with all 38 markers used failed to identify specific genomic regions associated to adaptive functions. However, the availability of genomic resources for this commercially valuable species is rapidly increasing, bringing us closer to the understanding of the interplay between selective and neutral evolutionary forces, shaping population divergence of an expanding species in a heterogeneous milieu. [ABSTRACT FROM AUTHOR]

PURPOSE: Ephrin receptors (Ephs) are frequently overexpressed in a wide variety of human malignant tumors. The present study aimed to evaluate EphA4 expression in lung cancer. MATERIAL and METHOD‟s: 101 patients who underwent surgical resection due to lung cancer were participated in this study. 86 were men and 15 women with a mean age of 62 years old. The tumors were adenocarcinoma in 48, squamous cell carcinoma in 33, large cell carcinoma in 11 and small cell carcinoma in 9 cases. Using tissue microarray technology, 101 paraffin-embedded tissue samples were cored, re-embedded to the final recipient block and used for EphA4 protein immunohistochemical expression. RESULTS: EphA4 positivity was noted in 36 out of 101 (36%) cases. EphA4 staining intensity was classified as mild in 11 (31%), moderate in 23 (64%) and intense in 2 (5%) out of 36 positive cases. Increased EphA4 positivity and moderate/intense EphA4 staining intensity were noted in adenocarcinoma and squamous cell lung carcinoma cases compared to large cell and neuroendocrine carcinoma ones (p=0.0049 and p=0.0170, respectively). EphA4 positivity and staining intensity were associated with the presence of lymph node metastases (p=0.0349 and p=0.0404, respectively). EphA4 staining intensity was also correlated with tumor histopathological stage (p=0.0145). CONCLUSIONS: The current study supports evidence for possible EphA4 participation in lung cancer biological behaviour, implying also its potent role as a therapeutic target. However, further molecular and clinical studies are required in order to define the significance of Ephs and their ligands (ephs) in lung cancer prognosis and management. [ABSTRACT FROM AUTHOR]

PURPOSE: To present the necessity and the features of a quality assurance program in radiotherapy through a literature review. MATERIAL and METHODS: A search in Scirus, Medline / PubMed databases using the following keywords: “clinical oncology”, “radiation oncology”, “radiotherapy”, “oncology practice”, “quality assurance” and “quality of care”. Nine relevant articles were chosen covering 2005-2011. RESULTS: Quality assurance is relevant to three aspects of radiotherapy: i) the clinical field involving resources (staffing and equipment), procedures (treatment planning, follow up) and results (tumour control, toxicity) ii) the field of medical physics involving the measurements necessary for the safety and precision of equipment, and iii) the technical field involving the accurate plan implementation and the smooth function of the treatment machines. National and international guidelines define the best practice in diagnosis and treatment of cancer patients. Moreover, the principles of quality management provide the tools not only for a reasonable use of the limited resources but also for the continuous improvement of organisations, towards patientcentred services. CONCLUSIONS: Quality in radiotherapy demands use of scientific methods. It is dynamic and needs to be measured and re-evaluated. Quality is based on a bidirectional relation between the service and the user, so it needs feedback in order to be enriched by the user experience. The successful implementation of a quality assurance program in radiotherapy needs expertise, training, coordination by talented leaders, in an environment of teamwork. [ABSTRACT FROM AUTHOR]

PURPOSE: To present data of patients treated for testicular cancer at our department during the past decade MATERIAL and METHODS: Patient data involving cases of testicular cancer treated in our department during the past decade have been collected. For the statistical analysis we used t-test, one way ANOVA and χ2 test. RESULTS: Data of 64 patients have been analysed. Median age was 32,8 years old (19-65). Of those, 77,8% had free past medical history, 17,5% cryptorchism and 4,8% other diseases. Initial presentation was palpable mass in 56,3%, pain in 32,8% or both in 10,9%. The tumour was right-sided in 51,6%, left-sided in 45,3%, bilateral in 1,6% and intraabdominal in 1,6%. Histology was seminoma in 45,8% and embryonal carcinoma in 40,7%, teratoma in 11,9% and yolk-sac tumour in 1,7%%. Lymphovascular invasion was present in 79,7%, inflammation in 74,6%, necrosis in 39% and fibrosis in 36,8%. Regarding staging, 46,3% were pT1, 46,3% pT2, 5,6% pT3 and 1,9% pTx. PEB chemotherapy was administered in 81%, carboplatin in 17,2% and 1,7% underwent follow up only. Statistical analysis revealed that: a) patients with past medical history of cryptorchism were more likely to present with seminoma compared to other histological types (p=0,046) and b) patients with seminoma were more likely to have fibrosis (p=0,042). CONCLUSIONS: Testicular cancer mainly involves young adults and is usually diagnosed at an early stage. In most cases prognosis is very good as it is considered to be chemo-sensitive. The results of this retrospective study are in accordance with existing literature. [ABSTRACT FROM AUTHOR]

PURPOSE: CRP and serum albumin are indicators of systemic inflammatory reaction and the status of patient‟s nutritional condition respectively. The aim of this study is to evaluate the clinical importance of CRP and serum albumin in lung cancer. MATERIAL and METHODS: Patients with primary lung cancer and no active infection were included. A blood sample was taken prior to any therapeutic intervention. CRP and albumin were assessed using nephelometry and photometry respectively. Associations between variables were analyzed using the statistical software SPSS 15 and Stata11. Two tailed p values ≤ 0.05 were considered to be statistically significant. RESULTS: Overall, 129 patients (114 men and 15 women) with a mean age of 64 years were assessed. The histology types were: 79% non small cell and 21% small cell neoplasms. Statistical significance was identified correlating lower albumin‟s values to stage IV of the tumours (p=0.027) and to the age of patients (p=0.021). Moreover, statistical significance was identified correlating higher CRP‟s values to stages IIIB (p=0.010) and IV (p=0.016) and to grade III (p=0.024). Also, there is a trend of CRP increase in correlation with some TNM characteristics (Τ4, Ν2, Ν3, Μ1β) and performance status 2. CONCLUSIONS: The most important conclusions of this study are that there is a correlation between lower albumin and metastatic disease or elderly patients and that higher CRP correlates with advanced or metastatic disease and grade III tumours. Consequently, the higher CRP and the lower albumin could be considered as possible biomarkers of the tumor‟s aggressiveness. [ABSTRACT FROM AUTHOR]

PURPOSE: To present the percentage of cancer patients with an indication for radiotherapy, as it has been calculated in the literature, in order to promote an effective and efficient redesigning of health services for cancer patients in Greece. MATERIAL and METHODS: Search in Scirus, Medline / PubMed databases using the following keywords: “clinical oncology”, “radiotherapy”, “practice”, “needs”, “utilization rate” and “evidence”. Eight publications covering the period 2000-2011 were chosen. Indications for radiotherapy are considered the clinical cases where it is suggested as a treatment of choice (better overall survival rates, local control rates or toxicity profile), taking into account the patients‟ performance status and co-morbidities. Moreover, data about the proportion of newly diagnosed cancer patients that will need to be treated at least once with radiotherapy were noted (radiotherapy utilization rate). RESULTS: According to data concerning the best practice in the treatment of cancer, about 52% of cancer cases have an indication for radiotherapy throughout the course of the disease. Specifically 83% of breast cancer patients, 76% of lung cancer patients, 60% of prostate cancer patients, 61% of rectal cancer cases, 58% of cervical cancer, and 46% of endometrial cancer cases. CONCLUSIONS: More than half of cancer patients need radiotherapy, either as part of a radical treatment or for symptomatic control. The role of radiotherapy is expected to be enhanced due to earlier diagnosis, the availability of high precision radiotherapy techniques, as well as the wider use of more conservative surgical approaches. [ABSTRACT FROM AUTHOR]

The article presents a study related to importance of local control in the increase of survival in oncology; and role of technological evolution towards improved clinical results in radiotherapy.

Using exome sequencing, we analyzed 196 participants of the Cretan Aging Cohort (CAC; 95 with Alzheimer's disease [AD], 20 with mild cognitive impairment [MCI], and 81 cognitively normal controls). The APOE ε4 allele was more common in AD patients (23.2%) than in controls (7.4%; p < 0.01) and the PSEN2 p.Arg29His and p.Cys391Arg variants were found in 3 AD and 1 MCI patient, respectively. Also, we found the frontotemporal dementia (FTD)-associated TARDBP gene p.Ile383Val variant in 2 elderly patients diagnosed with AD and in 2 patients, non CAC members, with the amyotrophic lateral sclerosis/FTD phenotype. Furthermore, the p.Ser498Ala variant in the positively selected GLUD2 gene was less frequent in AD patients (2.11%) than in controls (16%; p < 0.01), suggesting a possible protective effect. While the same trend was found in another local replication cohort (n = 406) and in section of the ADNI cohort (n = 808), this finding did not reach statistical significance and therefore it should be considered preliminary. Our results attest to the value of genetic testing to study aged adults with AD phenotype., (Copyright © 2022 Elsevier Inc. All rights reserved.)

Elevated basal cortisol levels in elderly may indicate dysregulation of the internal stress-related system, as well as dysfunction and structural alterations in brain structures necessary for cognition, such as hippocampus and prefrontal cortex. Because of the close relation of executive functions and episodic memory processing, in this study we explored whether the association of elevated cortisol levels on episodic memory could be partly attributed to cortisol effects on executive functions. In this cross-sectional study we analyzed data from a sample of 236 community-dwelling older adults from the Cretan Aging Cohort aged 75.56 ± 7.21 years [53 with dementia due to probable Alzheimer's disease, 99 with Mild Cognitive Impairment (MCI) and 84 cognitively non-impaired participants (NI)]. Morning serum cortisol levels were higher in the probable AD as compared to the NI group (p = .031). Mediated regression models in the total sample supported the hypothesis that the negative association of basal cortisol levels with delayed memory was fully mediated by the relation of basal cortisol levels with executive functions and immediate memory (adjusted for age and self-reported depression symptoms). Moderated mediation regression models revealed that the direct effect of cortisol on executive function and the effect of executive function on delayed memory performance were statistically significant among participants diagnosed with MCI, while the immediate memory effect on delayed memory was more pronounced in AD patients, as compared to the NI group. The current findings corroborate neuroimaging research highlighting cortisol effects on executive functions and immediate memory and further suggest that dysregulation of systems involved in these functions may account for the purported detrimental long-term effects of high cortisol levels on delayed memory., (Copyright © 2022 Elsevier Inc. All rights reserved.)

Females with NC21OHD may present as asymptomatic or develop a wide range of androgen excess expression. Clinical manifestations may become evident in childhood and adolescence and include premature pubarche, precocious puberty, acne, hirsutism, and menstrual disorders or present later in life as oligo-ovulation and infertility. Glucocorticoids have been the mainstay of treatment as they regulate excess androgen expression by dampening ACTH activation. Their use requires a careful dose monitoring to avoid overtreatment and subsequently the risk of obesity, type 2 diabetes, dyslipidemia, hypertension, and osteoporosis. Women with NC21OHD need regular follow up throughout their life in order to overcome the physical and psychological burden of hyperandrogenism.

Background: Gestational diabetes mellitus (GDM) is defined as impaired glucose tolerance with onset or first recognition during pregnancy, which is characterized by an increased insulin resistance. Gestational diabetes mellitus is associated with pregnancy-related maternal and fetal morbidity (both antenatal and perinatal). Myo-inositol has been suggested to improve insulin resistance in women with polycystic ovary syndrome. The aim of this study is to examine the impact of myo-inositol supplementation during pregnancy on the incidence of gestational diabetes mellitus., Methods: We will conduct a single-center, open-label, randomized controlled trial. A total of 160 healthy pregnant women with singleton pregnancy at 11-13 +6 weeks of gestation will be randomly allocated in two groups: intervention group (N = 80) and control group (N = 80). The intervention group will receive myo-inositol and folic acid (4000 mg myo-inositol and 400 mcg folic acid daily) from 11 to 13 +6 weeks of gestation until 26-28 weeks of gestation, while the control group will receive folic acid alone (400 mcg folic acid daily) for the same period of time as intervention group. The primary outcome will be gestational diabetes incidence rate at 26-28 weeks of gestation, according to the results of a 75 g oral glucose tolerance test held at 26-28 weeks of gestation. The secondary outcomes will include fasting blood glucose levels, glycated hemoglobin levels, insulin resistance level (evaluated by homeostasis model assessment of insulin resistance and Matsuda Index), and incidence rate of diet-treated gestational diabetes and diabetes requiring insulin therapy at 26-28 weeks of gestation., Discussion: This trial will provide evidence for the effectiveness of myo-inositol supplementation during pregnancy in reducing the incidence of gestational diabetes mellitus., Trial Registration: ISRCTN registry: ISRCTN16142533 . Registered on 9 March 2017.

Background: Patients with dementia report excessive daytime sleep/sleepiness, which is associated with worse cognitive performance. Inflammatory markers may be elevated in patients with dementia and have been proposed as mediators of sleep/sleepiness., Objective: To examine the association of objective daytime napping with cognitive performance and peripheral markers of inflammation in patients with dementia as compared to not cognitively impaired (NCI) controls., Methods: A sub-sample of 46 patients with mild-to-moderate dementia and 85 NCI controls, were recruited from a large, population-based cohort of 3,140 elders (≥60 years) in Crete, Greece. All participants underwent medical history/physical examination, extensive neuropsychiatric and neuropsychological evaluation, 3-day 24 h actigraphy and a single morning measure of IL-6 and TNFα plasma levels. Comparisons of sleep parameters and inflammation markers between diagnostic groups, and between nappers and non-nappers within each diagnostic group, were conducted using ANCOVA controlling for demographics/related clinical factors. Associations between inflammatory markers, sleep variables, and neuropsychological performance were assessed within each group using partial correlation analysis controlling for confounders., Results: Patients with dementia slept 15 minutes longer during the day than NCI. Within dementia patients, nappers had significantly worse performance on autobiographic memory (p = 0.002), working memory (p = 0.007), episodic memory (p = 0.010), and assessment of daily function (p = 0.012) than non-nappers. Finally, IL-6 levels were significantly associated with nap duration within dementia patients who napped (r = 0.500, p = 0.01)., Conclusions: Daytime napping in patients with dementia is associated with worse cognitive performance and increased IL-6 levels. In dementia, objective daytime napping, may be a marker of the severity of the disease.

Objective: To analyze the relationship between smoking and the risk of GDM, as well as with the OGTT profile during pregnancy., Patients and Methods: A total of 7437 pregnant women were studied. OGTT was performed at the 3rd trimester. Women were categorized as non-smokers (A), as those who ceased smoking at pregnancy (B), and as smokers (C)., Results: 5434 (73.1%) women were group A, 1191 (16%) group B and 812 (10.9%) group C. The rates of GDM among the groups were: A 33.7%, B 34.2%, C 34.2% (ns). However, the number of individuals requiring insulin treatment was significantly different: A 39.2%, B 47.5%, C 50.6% (p < 0.001). Regarding OGTT, fasting glucose levels were significantly higher in group C (89 ± 13 vs 86 ± 12 mg/dl) compared to A, whereas 3-h glucose values were significantly lower (104 ± 33 vs 112 ± 32 mg/dl) (p < 0.001). Group B demonstrated intermediate glucose concentrations. Similar findings were observed in women without GDM. In women with GDM, higher 1-h glucose levels were measured in group C (210 ± 31 vs 205 ± 28 mg/dl) compared with A (p = 0.024). Further, group C sub-analysis found that those who smoked more than 10 cigarettes showed significantly lower 3-h glucose levels (111 ± 31 vs 128 ± 40 mg/dl) compared to those who smoked less than 10 (p = 0.006). HbA1c in women with GDM was higher in group C (4.6 ± 0.6 vs 4.5 ± 0.6%) compared with A (p = 0.027)., Conclusions: The present study did not show any correlation between smoking and GDM risk. However, OGTT profile and HbA1c differed according to smoking status in women with and without GDM., (Copyright © 2019 Elsevier B.V. All rights reserved.)

This study focuses on the optimisation of 2,3-butanediol (BDO) production in fed-batch cultures carried out with the bacterial strain Enterobacter ludwigii using very high polarity (VHP) sugar from sugarcane mills. Various k L a values were evaluated using either complex or synthetic fermentation media demonstrating that the latter enhance BDO production efficiency with low by-product formation. The pH (6.3) and temperature (33.9 °C) employed in fed-batch bioreactor cultures has been optimised via experimental design. Fed-batch cultures carried out at the optimum temperature and pH and varying k L a values resulted in BDO concentration, yield and productivity of 86.8 g/L, 0.37 g/g and 3.95 g L -1  h -1 . Using this fermentation efficiency, the minimum selling price of BDO for annual production capacities of 10,000 t and 50,000 t was estimated at $3.12/kg and $2.67/kg, respectively, for a VHP cane sugar market price of $0.4/kg., (Copyright © 2018 Elsevier Ltd. All rights reserved.)

An updated second linkage map was constructed for the gilthead sea bream, Sparus aurata L., a fish species of great economic importance for the Mediterranean aquaculture industry. In contrast to the first linkage map which mainly consisted of genomic microsatellites (SSRs), the new linkage map is highly enriched with SSRs found in Expressed Sequence Tags (EST-SSRs), which greatly facilitates comparative mapping with other teleosts. The new map consists of 321 genetic markers in 27 linkage groups (LGs): 232 genomic microsatellites, 85 EST-SSRs and 4 SNPs; of those, 13 markers were linked to LGs but were not ordered. Eleven markers (5 SSRs, 5 EST-SSRs and 1 SNP) are not assigned to any LG. The total length of the sex-averaged map is 1769.7cM, 42% longer than the previously published one, and the number of markers in each LG ranges from 2 to 30. The inter-marker distance varies from 0 to 75.6cM, with an average of 5.75cM. The male and female maps have a length of 1349.2 and 2172.1cM, respectively, and the average distance between markers is 4.38 and 7.05cM, respectively. Comparative mapping with the three-spined stickleback (Gasterosteus acuulatus) chromosomes and scaffolds showed conserved synteny with 132 S. aurata markers (42.9% of those mapped) having a hit on the stickleback genome., (Copyright © 2014 Elsevier B.V. All rights reserved.)

Automated DNA sequencers generate chromatograms that contain raw sequencing data. They also generate data that translates the chromatograms into molecular sequences of A, C, G, T, or N (undetermined) characters. Since chromatogram translation programs frequently introduce errors, a manual inspection of the generated sequence data is required. As sequence numbers and lengths increase, visual inspection and manual correction of chromatograms and corresponding sequences on a per-peak and per-nucleotide basis becomes an error-prone, time-consuming, and tedious process. Here, we introduce ChromatoGate (CG), an open-source software that accelerates and partially automates the inspection of chromatograms and the detection of sequencing errors for bidirectional sequencing runs. To provide users full control over the error correction process, a fully automated error correction algorithm has not been implemented. Initially, the program scans a given multiple sequence alignment (MSA) for potential sequencing errors, assuming that each polymorphic site in the alignment may be attributed to a sequencing error with a certain probability. The guided MSA assembly procedure in ChromatoGate detects chromatogram peaks of all characters in an alignment that lead to polymorphic sites, given a user-defined threshold. The threshold value represents the sensitivity of the sequencing error detection mechanism. After this pre-filtering, the user only needs to inspect a small number of peaks in every chromatogram to correct sequencing errors. Finally, we show that correcting sequencing errors is important, because population genetic and phylogenetic inferences can be misled by MSAs with uncorrected mis-calls. Our experiments indicate that estimates of population mutation rates can be affected two- to three-fold by uncorrected errors.

We screened for simple sequence repeats (SSRs) found in ESTs derived from an EST-database development project ('Marine Genomics Europe' Network of Excellence). Different motifs of di-, tri-, tetra-, penta- and hexanucleotide SSRs were evaluated for variation in length and position in the expressed sequences, relative abundance and distribution in gilthead sea bream (Sparus aurata). We found 899 ESTs that harbor 997 SSRs (4.94%). On average, one SSR was found per 2.95 kb of EST sequence and the dinucleotide SSRs are the most abundant accounting for 47.6% of the total number. EST-SSRs were used as template for primer design. 664 primer pairs could be successfully identified and a subset of 206 pairs of primers was synthesized, PCR-tested and visualized on ethidium bromide stained agarose gels. The main objective was to further assess the potential of EST-SSRs as informative markers and investigate their cross-species amplification in sixteen teleost fish species: seven sparid species and nine other species from different families. Approximately 78% of the primer pairs gave PCR products of expected size in gilthead sea bream, and as expected, the rate of successful amplification of sea bream EST-SSRs was higher in sparids, lower in other perciforms and even lower in species of the Clupeiform and Gadiform orders. We finally determined the polymorphism and the heterozygosity of 63 markers in a wild gilthead sea bream population; fifty-eight loci were found to be polymorphic with the expected heterozygosity and the number of alleles ranging from 0.089 to 0.946 and from 2 to 27, respectively. These tools and markers are expected to enhance the available genetic linkage map in gilthead sea bream, to assist comparative mapping and genome analyses for this species and further with other model fish species and finally to help advance genetic analysis for cultivated and wild populations and accelerate breeding programs., (Copyright © 2011 Elsevier B.V. All rights reserved.)