Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis

Pancreatitis is a complex, progressively destructive inflammatory disorder. Alcohol was long thought to be the primary causative agent, but genetic contributions have been of interest since the discovery that rare PRSS1, CFTR, and SPINK1 variants were associated with pancreatitis risk. We now report two significant genome-wide associations identified and replicated at PRSS1-PRSS2 (1×10-12) and x-linked CLDN2 (p < 1×10-21) through a two-stage genome-wide study (Stage 1, 676 cases and 4507 controls; Stage 2, 910 cases and 4170 controls). The PRSS1 variant affects susceptibility by altering expression of the primary trypsinogen gene. The CLDN2 risk allele is associated with atypical localization of claudin-2 in pancreatic acinar cells. The homozygous (or hemizygous male) CLDN2 genotype confers the greatest risk, and its alleles interact with alcohol consumption to amplify risk. These results could partially explain the high frequency of alcohol-related pancreatitis in men – male hemizygous frequency is 0.26, female homozygote is 0.07

Contemporary Role of Embolization of Solid Organ and Pelvic Injuries in Polytrauma Patients

Abdominopelvic trauma (APT) remains a leading cause of morbidity and mortality in the 15- to 44-year-old age group in the Western World. It can be life-threatening as abdominopelvic organs, specifically those in the retroperitoneal space, can bleed profusely. APT is divided into blunt and penetrating types. While surgery is notably considered as a definitive solution for bleeding control, it is not always the optimum treatment for the stabilization of a polytrauma patient. Over the past decades, there has been a shift toward more sophisticated strategies, such as non-operative management of abdominopelvic vascular trauma for haemodynamically stable patients. Angiographic embolization for bleeding control following blunt and/or penetrating intra- and retroperitoneal injuries has proven to be safe and effective. Embolization can achieve hemostasis and salvage organs without the morbidity of surgery, and the development and refinement of embolization techniques has widened the indications for non-operative treatment in solid organ injury. Moreover, advances in computed tomography provided more efficient scanning times with improved image quality. While surgery is still usually recommended for patients with penetrating injuries, non-operative management can be effectively used as well as an alternative treatment. We review indications, technical considerations, efficacy, and complication rates of angiographic embolization in APT

Prioritizing Plants around the Cross-Border Area of Greece and the Republic of North Macedonia: Integrated Conservation Actions and Sustainable Exploitation Potential

Plants know no political borders and some of them are restricted to small geographical territories of different countries in which they are endemic. In this study, we prioritized plants (PPs) of the cross-border area of Greece and the Republic of North Macedonia that are already threatened or nearly so (PPA), those which occur exclusively on either side of borderline and/or nearby countries (PPB), or those which are uncommon and rare in this region (PPC) with the aim to document in-situ the species-specific risks-threats; offer ex-situ conservation for them as a back-up solution for future re-introductions and sustainable exploitation; and raise public awareness and alertness about the importance of local biodiversity. In the framework of the project Conse-pp, 20 botanical expeditions were performed in 75 selected areas to collect samples and suitable propagation material from 130 PPs (147 accession numbers), also recording all types of threats-identified in-situ for each of them. No ex-situ conservation was detected for 40 PPs worldwide while for another 12 PPs only limited attempts have been made to date. The fully documented PPs are currently maintained under ex- situ conservation and acclimatization in the Balkan Botanic Garden of Kroussia (BBGK). In total, 156 propagation trials (sexual or asexual) have been made for these PPs to develop species-specific propagation protocols. Consequently, the production of new plant stocks raised ex-situ was achieved (n = 3254 individuals; first-time ex-situ conservation for 40 taxa), and this has enabled the establishment of three awareness-raising sites with PPs: (i) 1000 plants of 70 PPs in the newly designed Kardia Botanical Park in Thermi (Greece); (ii) 850 plants of 104 PPs in the phytodiversity awareness spot in BBGK and 130 individual PPs in the Garden of Environmental Awareness; and (iii) 42 plants of 14 PP taxa delivered to the botanic garden of Ss. Cyril and Methodius University in Skopje. This project outlines the necessity of the development of common plant conservation strategies for threatened plants in cross-border areas of neighboring countries and presents an integrated approach allowing for sustainable development and future in-situ protection measures and actions in the studied cross-border area

Recommendations for Mechanical Thrombectomy in Patients with Acute Ischemic Stroke A Clinical Guide by the Hellenic Stroke Organization

This document presents the consensus recommendations of the Hellenic Stroke Organization which can be of assistance to the treating stroke physicians

Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis

Pancreatitis is a complex, progressively destructive inflammatory disorder. Alcohol was long thought to be the primary causative agent, but genetic contributions have been of interest since the discovery that rarePRSS1,CFTR, andSPINK1variants were associated with pancreatitis risk. We now report two significant genome-wide associations identified and replicated atPRSS1-PRSS2(1×10-12) and x-linkedCLDN2(p < 1×10-21) through a two-stage genome-wide study (Stage 1, 676 cases and 4507 controls; Stage 2, 910 cases and 4170 controls). ThePRSS1variant affects susceptibility by altering expression of the primary trypsinogen gene. TheCLDN2risk allele is associated with atypical localization of claudin-2 in pancreatic acinar cells. The homozygous (or hemizygous male)CLDN2genotype confers the greatest risk, and its alleles interact with alcohol consumption to amplify risk. These results could partially explain the high frequency of alcohol-related pancreatitis in men – male hemizygous frequency is 0.26, female homozygote is 0.07

New insights into the genetic etiology of Alzheimer’s disease and related dementias

Characterization of the genetic landscape of Alzheimer’s disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/‘proxy’ AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis. Pathway enrichment analyses confirmed the involvement of amyloid/tau pathways and highlighted microglia implication. Gene prioritization in the new loci identified 31 genes that were suggestive of new genetically associated processes, including the tumor necrosis factor alpha pathway through the linear ubiquitin chain assembly complex. We also built a new genetic risk score associated with the risk of future AD/dementia or progression from mild cognitive impairment to AD/dementia. The improvement in prediction led to a 1.6- to 1.9-fold increase in AD risk from the lowest to the highest decile, in addition to effects of age and the APOE ε4 allele