MN-ANDALUSITE, SPESSARTINE, MN-GROSSULAR, PIEMONTITE AND MN-ZOISITE/CLINOZOISITE FROM TRIKORFO, THASSOS ISLAND, GREECE

Μυλωνιτιωμένοι πλούσιοι σε μαγγάνιο σχιστόλιθοι και ασβεστοπυριτικά στρώματα που απαντούν ως ενδιαστρώσεις εντός αμφιβολιτικής έως πρασινοσχιστολιθικής φάσης μεταμόρφωσης μαρμαρυγιακούς σχιστόλιθους στο Τρίκορφο της Θάσου, 2069 χαρακτηρίζονται από μία ασυνήθιστη Mn-ούχο παραγένεση μεταμορφικών ορυκτών τα περισσότερα από τα οποία σε ιδιαίτερα μεγάλους κρυστάλλους και σε ποικιλία πολύτιμων λίθων. Τα Mn-ούχα πυριτικά ορυκτά απαντούν τόσο σε στρώσεις παράλληλα με την φύλλωση όσο και σε φλέβες που τέμνουν τη μεταμορφική δομή. Τα ορυκτά πιεμοντίτης (έως 12.7 % κ.β. Mn2O3), Mn-ούχο επίδοτο (έως 7.8 % κ.β. Mn2O3), Mn-ούχος ανδαλουσίτης (έως 15.6 % κ.β. Mn2O3), φτωχός σε Mn ροζ κλινοζοϊσίτης/επίδοτο (έως 0.87 % κ.β. Mn2O3), φτωχός σε Mn ροζ έως κόκκινος ζοϊσίτης (έως 0.21 % κ.β. Mn2O3), σπεσσαρτίνης (έως 47.7 % κ.β. MnO) και Mn-ούχος γροσσουλάριος (έως 3.6 % κ.β. MnO), συνοδεύονται από διοψίδιο, κεροστίλβη, φλογοπίτη, μοσχοβίτη, τουρμαλίνη, αιματίτη και σιδηρούχο κυανίτη. Η παραγένεση που μελετήθηκε είναι ενδεικτική υψηλών τιμών πτητικότητας του οξυγόνου λόγω της παρουσίας προϋπάρχουσας έντονα οξειδωτικής προ-μεταμορφικής ορυκτολογικής παραγένεσης πλούσιας σε μαγγάνιο. Σχηματίσθηκε κατά την πρόδρομη μεταμόρφωση ιζηματογενών πρωτόλιθων πλούσιων σε Mn, με ακόλουθη επανισσορόπηση απο τις μέγιστες συνθήκες πίεσης και θερμοκρασίας, σχηματισμό φλεβών και μετασωμάτωσης κατά την ανάδρομη μεταμόρφωση που συνόδευσε την ανάδυση της Θάσου στο Ολιγόκαινο-Μειόκαινο. Εναλλακτικά, η προσφορά ρευστών από γρανιτοειδή κατά την διάρκεια μεταμόρφωσης επαφής δεν πρέπει να αποκλειστεί. Η περιοχή μελέτης αντιπροσωπεύει μοναδικό ορυκτολογικό Γεώτοπο. Η γεωλογική-ορυκτολογική αυτή κληρονομιά μπορεί να προστατευθεί μέσω της ίδρυσης ενός Γεωπάρκου που θα συμβάλλει επιπλέον και στην προώθηση φιλικής προς το περιβάλλον ανάπτυξης της Θάσου.Mylonitized manganiferous schists and calc-silicate layers intercalated within amphibolite- to greenschist facies mica schists from the Trikorfo area (Thassos Island, Greece), host an unusual Mn-rich paragenesis of metamorphic silicate minerals, most of them in large, gemmy crystals. The silicates occur both in layers subparallel to the foliation and within discordant veins cross-cutting the metamorphic fabric. Piemontite (up to 12.7 wt. % Mn2O3), Mn-rich epidote (up to 7.8 wt. % Mn2O3), Mn-rich andalusite (up to 15.6 wt. % Mn2O3), Mn-poor pink clinozoisite-epidote (up to 0.87 wt. % Mn2O3), Mn-poor pink zoisite (up to 0.21 wt. % Mn2O3), spessartine (up to 47.7 wt. % MnO) and Mn-rich grossular (up to 3.6 wt. % MnO) are associated with diopside, hornblende, phlogopite, muscovite, tourmaline, hematite and iron-bearing kyanite. The studied assemblages are indicative of high fO2 conditions due to the presence of highly oxidized pre-metamorphic Mn-rich mineral associations. They developed during prograde metamorphism of a Mn-rich sedimentary protolith(s), followed by re equilibration to post-peak metamorphic conditions, vein formation and metasomatism during retrograde metamorphism accompanying the exhumation of the Thassos Island during the Oligocene-Miocene. Alternatively, the skarn similar mineralogy of the calc-silicate layers could have been formed by fluids released by granitoids during contact metamorphism. The studied area represents a unique mineralogical geotope. Its geological-mineralogical heritage should be protected through establishment of a mineralogical-petrological geopark that will also promote sustainable development of the area

IL-10 and TGF-β1 gene polymorphisms in Greek patients with recurrent aphthous stomatitis

Recurrent aphthous stomatitis (RAS) is one of the most frequent inflammatory disorders of the oral mucosa. Cytokines, which play an important role in RAS pathogenesis, participate directly or indirectly in normal, immunological and inflammatory processes and are secreted from cells belonging to innate and adaptive immunity as a consequence of microbial and antigenic stimuli. Gene polymorphisms in specific cytokines may predispose to RAS development. The aim of this study was the investigation and association of IL-10 and TGF-β1 gene polymorphisms with RAS

Beta-thalassemia

Beta-thalassemias are a group of hereditary blood disorders characterized by anomalies in the synthesis of the beta chains of hemoglobin resulting in variable phenotypes ranging from severe anemia to clinically asymptomatic individuals. The total annual incidence of symptomatic individuals is estimated at 1 in 100,000 throughout the world and 1 in 10,000 people in the European Union. Three main forms have been described: thalassemia major, thalassemia intermedia and thalassemia minor. Individuals with thalassemia major usually present within the first two years of life with severe anemia, requiring regular red blood cell (RBC) transfusions. Findings in untreated or poorly transfused individuals with thalassemia major, as seen in some developing countries, are growth retardation, pallor, jaundice, poor musculature, hepatosplenomegaly, leg ulcers, development of masses from extramedullary hematopoiesis, and skeletal changes that result from expansion of the bone marrow. Regular transfusion therapy leads to iron overload-related complications including endocrine complication (growth retardation, failure of sexual maturation, diabetes mellitus, and insufficiency of the parathyroid, thyroid, pituitary, and less commonly, adrenal glands), dilated myocardiopathy, liver fibrosis and cirrhosis). Patients with thalassemia intermedia present later in life with moderate anemia and do not require regular transfusions. Main clinical features in these patients are hypertrophy of erythroid marrow with medullary and extramedullary hematopoiesis and its complications (osteoporosis, masses of erythropoietic tissue that primarily affect the spleen, liver, lymph nodes, chest and spine, and bone deformities and typical facial changes), gallstones, painful leg ulcers and increased predisposition to thrombosis. Thalassemia minor is clinically asymptomatic but some subjects may have moderate anemia. Beta-thalassemias are caused by point mutations or, more rarely, deletions in the beta globin gene on chromosome 11, leading to reduced (beta+) or absent (beta0) synthesis of the beta chains of hemoglobin (Hb). Transmission is autosomal recessive; however, dominant mutations have also been reported. Diagnosis of thalassemia is based on hematologic and molecular genetic testing. Differential diagnosis is usually straightforward but may include genetic sideroblastic anemias, congenital dyserythropoietic anemias, and other conditions with high levels of HbF (such as juvenile myelomonocytic leukemia and aplastic anemia). Genetic counseling is recommended and prenatal diagnosis may be offered. Treatment of thalassemia major includes regular RBC transfusions, iron chelation and management of secondary complications of iron overload. In some circumstances, spleen removal may be required. Bone marrow transplantation remains the only definitive cure currently available. Individuals with thalassemia intermedia may require splenectomy, folic acid supplementation, treatment of extramedullary erythropoietic masses and leg ulcers, prevention and therapy of thromboembolic events. Prognosis for individuals with beta-thalassemia has improved substantially in the last 20 years following recent medical advances in transfusion, iron chelation and bone marrow transplantation therapy. However, cardiac disease remains the main cause of death in patients with iron overload

Chromosome 9p copy number gains involving PD-L1 are associated with a specific proliferation and immune-modulating gene expression program active across major cancer types

BACKGROUND: Inhibition of the PD-L1/PD-1 immune checkpoint axis represents one of the most promising approaches of immunotherapy for various cancer types. However, immune checkpoint inhibition is successful only in subpopulations of patients emphasizing the need for powerful biomarkers that adequately reflect the complex interaction between the tumor and the immune system. Recently, recurrent copy number gains (CNG) in chromosome 9p involving PD-L1 were detected in many cancer types including lung cancer, melanoma, bladder cancer, head and neck cancer, cervical cancer, soft tissue sarcoma, prostate cancer, gastric cancer, ovarian cancer, and triple-negative breast cancer. METHODS: Here, we applied functional genomics to analyze global mRNA expression changes associated with chromosome 9p gains. Using the TCGA data set, we identified a list of 75 genes that were strongly up-regulated in tumors with chromosome 9p gains across many cancer types. RESULTS: As expected, the gene set was enriched for chromosome 9p and in particular chromosome 9p24 (36 genes and 23 genes). Furthermore, we found enrichment of two expression programs derived from genes within and beyond 9p: one implicated in cell cycle regulation (22 genes) and the other implicated in modulation of the immune system (16 genes). Among these were specific cytokines and chemokines, e.g. CCL4, CCL8, CXCL10, CXCL11, other immunoregulatory genes such as IFN-G and IDO1 as well as highly expressed proliferation-related kinases and genes including PLK1, TTK, MELK and CDC20 that represent potential drug targets. CONCLUSIONS: Collectively, these data shed light on mechanisms of immune escape and stimulation of proliferation in cancer with PD-L1 CNG and highlight additional vulnerabilities that may be therapeutically exploitable

The tourism and economic growth enigma: Examining an ambiguous relationship through multiple prisms

This paper revisits the ambiguous relationship between tourism and economic growth, providing a comprehensive study of destinations across the globe which takes into account the key dynamics that influence tourism and economic performance. We focus on 113 countries over the period 1995-2014, clustered, for the first time, around six criteria that reflect their economic, political and tourism dimensions. A Panel Vector Autoregressive model is employed which, in contrast to previous studies, allows the data to reveal any tourism-economy interdependencies across these clusters, without imposing a priori the direction of causality. Overall, the economic-driven tourism growth hypothesis seems to prevail in countries which are developing, non-democratic, highly bureaucratic and have low tourism specialization. Conversely, bidirectional relationships are established for economies which are stronger, democratic and with higher levels of government effectiveness. Thus, depending on the economic, political and tourism status of a destination, different policy implications apply

Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits

Deep sequence-based imputation can enhance the discovery power of genome-wide association studies by assessing previously unexplored variation across the common-and low-frequency spectra. We applied a hybrid whole-genome sequencing (WGS) and deep imputation approach to examine the broader allelic architecture of 12 anthropometric traits associated with height, body mass, and fat distribution in up to 267,616 individuals. We report 106 genome-wide significant signals that have not been previously identified, including 9 low-frequency variants pointing to functional candidates. Of the 106 signals, 6 are in genomic regions that have not been implicated with related traits before, 28 are independent signals at previously reported regions, and 72 represent previously reported signals for a different anthropometric trait. 71% of signals reside within genes and fine mapping resolves 23 signals to one or two likely causal variants. We confirm genetic overlap between human monogenic and polygenic anthropometric traits and find signal enrichment in cis expression QTLs in relevant tissues. Our results highlight the potential of WGS strategies to enhance biologically relevant discoveries across the frequency spectrum.Peer reviewe

A reference panel of 64,976 haplotypes for genotype imputation.

We describe a reference panel of 64,976 human haplotypes at 39,235,157 SNPs constructed using whole-genome sequence data from 20 studies of predominantly European ancestry. Using this resource leads to accurate genotype imputation at minor allele frequencies as low as 0.1% and a large increase in the number of SNPs tested in association studies, and it can help to discover and refine causal loci. We describe remote server resources that allow researchers to carry out imputation and phasing consistently and efficiently

Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals

Correction: Volume53, Issue5 Page 762-762 DOI: 10.1038/s41588-021-00832-z Published MAY 2021Genetic studies of blood pressure (BP) to date have mainly analyzed common variants (minor allele frequency > 0.05). In a meta-analysis of up to similar to 1.3 million participants, we discovered 106 new BP-associated genomic regions and 87 rare (minor allele frequencyPeer reviewe