Comparative cytogenetics in four species of Palinuridae: B chromosomes, ribosomal genes and telomeric sequences

The evolutionary pathway of Palinuridae (Crustacea, Decapoda) is still controversial, uncertain and unexplored, expecially from a karyological point of view. Here we describe the South African spiny lobster Jasus lalandii karyotype: n and 2n values, heterochromatin distribution, nucleolar organizer region (NOR) location and telomeric repeat structure and location. To compare the genomic and chromosomal organization in Palinuridae we located NORs in Panulirus regius, Palinurus gilchristi and Palinurus mauritanicus: all species showed multiple NORs. In J. lalandii NORs were located on three chromosome pairs, with interindividual polymorphism. In P. regius and in the two Palinurus species NORs were located on two chromosome pairs. In the two last species 45S ribosomal gene loci were also found on B chromosomes. In addition, the nature and location of telomeric repeats were investigated by FISH in J. lalandii, P. gilchristi, P. mauritanicus Palinurus elephas, and P. regius (Palinuridae, Achelata), and in Scyllarus arctus (Scyllaridae, Achelata): all these Achelata species showed the (TTAGG)n pentameric repeats. Furthermore, in J. lalandii these repeats occurred in all the telomeres and in some interstitial chromosomal sites, associated with NORs

Genetic loci linked to Type 1 Diabetes and Multiple Sclerosis families in Sardinia

<p>Abstract</p> <p>Background</p> <p>The Mediterranean island of Sardinia has a strikingly high incidence of the autoimmune disorders Type 1 Diabetes (T1D) and Multiple Sclerosis (MS). Furthermore, the two diseases tend to be co-inherited in the same individuals and in the same families. These observations suggest that some unknown autoimmunity variant with relevant effect size could be fairly common in this founder population and could be detected using linkage analysis.</p> <p>Methods</p> <p>To search for T1D and MS loci as well as any that predispose to both diseases, we performed a whole genome linkage scan, sequentially genotyping 593 microsatellite marker loci in 954 individuals distributed in 175 Sardinian families. In total, 413 patients were studied; 285 with T1D, 116 with MS and 12 with both disorders. Model-free linkage analysis was performed on the genotyped samples using the Kong and Cox logarithm of odds (LOD) score statistic.</p> <p>Results</p> <p>In T1D, aside from the HLA locus, we found four regions showing a lod-score ≥1; 1p31.1, 6q26, 10q21.2 and 22q11.22. In MS we found three regions showing a lod-score ≥1; 1q42.2, 18p11.21 and 20p12.3. In the combined T1D-MS scan for shared autoimmunity loci, four regions showed a LOD >1, including 6q26, 10q21.2, 20p12.3 and 22q11.22. When we typed more markers in these intervals we obtained suggestive evidence of linkage in the T1D scan at 10q21.2 (LOD = 2.1), in the MS scan at 1q42.2 (LOD = 2.5) and at 18p11.22 (LOD = 2.6). When all T1D and MS families were analysed jointly we obtained suggestive evidence in two regions: at 10q21.1 (LOD score = 2.3) and at 20p12.3 (LOD score = 2.5).</p> <p>Conclusion</p> <p>This suggestive evidence of linkage with T1D, MS and both diseases indicates critical chromosome intervals to be followed up in downstream association studies.</p

How future surgery will benefit from SARS-COV-2-related measures: a SPIGC survey conveying the perspective of Italian surgeons

COVID-19 negatively affected surgical activity, but the potential benefits resulting from adopted measures remain unclear. The aim of this study was to evaluate the change in surgical activity and potential benefit from COVID-19 measures in perspective of Italian surgeons on behalf of SPIGC. A nationwide online survey on surgical practice before, during, and after COVID-19 pandemic was conducted in March-April 2022 (NCT:05323851). Effects of COVID-19 hospital-related measures on surgical patients' management and personal professional development across surgical specialties were explored. Data on demographics, pre-operative/peri-operative/post-operative management, and professional development were collected. Outcomes were matched with the corresponding volume. Four hundred and seventy-three respondents were included in final analysis across 14 surgical specialties. Since SARS-CoV-2 pandemic, application of telematic consultations (4.1% vs. 21.6%; p &lt; 0.0001) and diagnostic evaluations (16.4% vs. 42.2%; p &lt; 0.0001) increased. Elective surgical activities significantly reduced and surgeons opted more frequently for conservative management with a possible indication for elective (26.3% vs. 35.7%; p &lt; 0.0001) or urgent (20.4% vs. 38.5%; p &lt; 0.0001) surgery. All new COVID-related measures are perceived to be maintained in the future. Surgeons' personal education online increased from 12.6% (pre-COVID) to 86.6% (post-COVID; p &lt; 0.0001). Online educational activities are considered a beneficial effect from COVID pandemic (56.4%). COVID-19 had a great impact on surgical specialties, with significant reduction of operation volume. However, some forced changes turned out to be benefits. Isolation measures pushed the use of telemedicine and telemetric devices for outpatient practice and favored communication for educational purposes and surgeon-patient/family communication. From the Italian surgeons' perspective, COVID-related measures will continue to influence future surgical clinical practice

Bosnia and Herzegovina: A Migrant Hotspot at the Gates of Fortress Europe

This thesis is a qualitative study focusing on the situation that has evolved in Bosnia and Herzegovina (BiH) from the beginning of 2018, when migrants and refugees started entering the country in large numbers in the context of the so-called Balkan route. The approach adopted in the thesis is informed by critical studies emphasizing the asymmetries entailed in the emerging multilevel governance of migration. The European Union (EU), the BiH state, IOM, civil society, activists, and citizens, are inserted in a “situational map” presenting their inter-relations, and the potential of each to influence the situation of concern. This thesis analyses in details the role of the EU, which is implementing in BiH its security-informed approach to irregular migration through externalization and multilevelling strategies. Eight semi-structured interviews allow the investigation into the potential and challenges of a “governance from below”. The main argument of this thesis is that the EU, outsourcing its strategy to curb irregular migration to BiH, fails to address the humanitarian crisis that is developing there, besides mining the stability and democracy of the country

Bosnia and Herzegovina: A Migrant Hotspot at the Gates of Fortress Europe

This thesis is a qualitative study focusing on the situation that has evolved in Bosnia and Herzegovina (BiH) from the beginning of 2018, when migrants and refugees started entering the country in large numbers in the context of the so-called Balkan route. The approach adopted in the thesis is informed by critical studies emphasizing the asymmetries entailed in the emerging multilevel governance of migration. The European Union (EU), the BiH state, IOM, civil society, activists, and citizens, are inserted in a “situational map” presenting their inter-relations, and the potential of each to influence the situation of concern. This thesis analyses in details the role of the EU, which is implementing in BiH its security-informed approach to irregular migration through externalization and multilevelling strategies. Eight semi-structured interviews allow the investigation into the potential and challenges of a “governance from below”. The main argument of this thesis is that the EU, outsourcing its strategy to curb irregular migration to BiH, fails to address the humanitarian crisis that is developing there, besides mining the stability and democracy of the country

Bosnia and Herzegovina: A Migrant Hotspot at the Gates of Fortress Europe

This thesis is a qualitative study focusing on the situation that has evolved in Bosnia and Herzegovina (BiH) from the beginning of 2018, when migrants and refugees started entering the country in large numbers in the context of the so-called Balkan route. The approach adopted in the thesis is informed by critical studies emphasizing the asymmetries entailed in the emerging multilevel governance of migration. The European Union (EU), the BiH state, IOM, civil society, activists, and citizens, are inserted in a “situational map” presenting their inter-relations, and the potential of each to influence the situation of concern. This thesis analyses in details the role of the EU, which is implementing in BiH its security-informed approach to irregular migration through externalization and multilevelling strategies. Eight semi-structured interviews allow the investigation into the potential and challenges of a “governance from below”. The main argument of this thesis is that the EU, outsourcing its strategy to curb irregular migration to BiH, fails to address the humanitarian crisis that is developing there, besides mining the stability and democracy of the country

INTERSTITIAL TELOMERIC SITES IN NATIVE AND INVASIVE SPECIES OF CRUSTACEA DECAPODA

By definition, telomeric sequences are located at the chromosomal ends. Several eukaryotic species also show telomeric repeats in non-terminal regions, called interstitial telomeric sequences (ITSs). They might originate from ancestral intrachromosomal rearrangements, differential crossing-over or from the repair of double-strand break during evolution. ITSs could play a significant role in genome instability and evolution, they also might be hotspots of chromosome breakage, rearrangement and amplification sites. Crustacea Decapoda includes species of highly economical value, like lobsters, and of ecological interest such as the Louisiana crayfish, species became invasive in European freshwaters. Although a lot of genetic studies are available on this taxon, many phylogenetic and taxonomic aspects are still unclear. Cytogenetics, and in particular the localization of the telomeric sequence, could provide useful cytotaxonomic data, but very few species have been studied. Here, we examine the chromosomal location of telomeric repeats in 10 species of decapods belonging to different families in order to analyze the extent of ITSs occurrence in the chromosomes of representatives of this taxon. TTAGG telomeric repeat and 45S rDNA have been mapped by fluorescence in situ hybridization (FISH) on mitotic and meiotic chromosomes obtained from gonads and hepatopancreas of males by the air-drying technique. Beside terminal signals, detected in all species, in four of them several interstitial telomeric sites were present. These ITSs varied among different species in number and position and in some case were coincident with major ribosomal genes. Additionally, the invasive Louisiana crayfish Procambarus clarkii (Girard, 1852) presented two conspicuous and adjacent ITSs in one chromosome pair. It is remarkable the presence of ITs in almost 40% of the decapods studied, that suggests a intense chromosome dymanism in this group. In fact, ITs could be the remnant of chromosomal rearrangements, like tandem chromosome fusions, or might be associated with rDNA, satellite DNAs or transpsons, which could explain the interstitial distribution. Our results give new insights both for karyological comparative and cytogenomic analyses in crustacean decapods, underlying the relevance of this approach within this taxon. Study supported by the Fondazione di Sardegna (year 2016) and Regione Sardegna (LR 7/2007) for the project: Impact of Invasive Alien Species on Sardinian ecosystems

Anguilliformes cytogenetics: karyotype characterization and identification of interstitial telomeres and chromosomal polimorphism in Ophisurus serpens (Ophichthidae)

The family Ophichthidae comprises 52 genera and about 290 species of snake eels and worm eels. Among the nine species cytogenetically studied, the 2n is comprised between 38 and 50; the karyotype structure is highly variable between an all acrocentric- and an all biarmed-chromosomes karyotype. Differentiated sex chromosomes, a ZZ/ZWand a multiple XXXX/XXXY system, have been described in two species. In this work, we deepened the karyotype characterization of O. serpens by replication banding that allowed to identify and characterize the chromosomal pairs; furthermore in this species it has been possible to obtain G-bands, hardly achievable in fishes. Heterochromatic C- and endonuclease-bandings allowed to localize and characterize the constitutive heterochromatin in all centromeres, in some paracentromeric regions and in the short arm of pair 19. With all the banding techniques used, this pair showed an interindividual polimorphism in the short arm length between homologous chromosomes, possibly sex related. By FISH, we localized the 45 S and 5 S ribosomal gene families on the short arm of pair 9 and on the short arm of pair 19 respectively; furthermore we localized the telomeric sequences on all telomeres and in some intrachromosomal sites, including the pericentromeric region of pair 19. The presence of repetitive sequences as telomeric sequences and 5S rDNA, could be correlated to the polymorphism observed in the short arm of pair 19