Publications by authors named "J Carbonell"

Species distributed across wide elevational gradients are likely to experience local thermal adaptation and exhibit high thermal plasticity, as these gradients are characterised by steep environmental changes over short geographic distances (i.e., strong selection differentials).

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  • Arterial trauma to the axillary subclavian segment poses significant health risks, and endovascular therapy is emerging as a preferable treatment option over traditional surgical methods due to the complexity of accessing these vessels.
  • A study conducted over 15 years at a university hospital in Cali, Colombia, analyzed outcomes for 32 patients with traumatic injuries to these arteries who received endovascular treatment, with most patients being young and male.
  • The findings revealed that the majority of injuries were penetrating (mostly from gunshot wounds), with a low incidence of intraoperative complications, but notable occurrences of pseudoaneurysms and thrombosis among the patients treated.
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  • Recompensation after transjugular intrahepatic portosystemic shunt (TIPS) may improve outcomes in cirrhosis patients, reducing the risk of hepatocellular carcinoma (HCC) and mortality to levels similar to those seen in compensated cirrhosis patients.
  • The study involved 208 patients, where 24% achieved recompensation after one year, with notable improvements in liver function and other health metrics associated with this status.
  • No significant differences in survival rates or HCC risk were observed between recompensated and compensated patients, indicating that successful recompensation can lead to better prognostic outcomes.
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An intricate interplay between evolutionary and demographic processes has frequently resulted in complex patterns of genetic and phenotypic diversity in alpine lineages, posing serious challenges to species delimitation and biodiversity conservation planning. Here we integrate genomic data, geometric morphometric analyses and thermal tolerance experiments to explore the role of Pleistocene climatic changes and adaptation to alpine environments on patterns of genomic and phenotypic variation in diving beetles from the taxonomically complex Agabus bipustulatus species group. Genetic structure and phylogenomic analyses revealed the presence of three geographically cohesive lineages, two representing trans-Palearctic and Iberian populations of the elevation-generalist A.

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Variants in seven genes (LRRK2, GBA1, PRKN, SNCA, PINK1, PARK7 and VPS35) have been formally adjudicated as causal contributors to Parkinson's disease; however, individuals with Parkinson's disease are often unaware of their genetic status since clinical testing is infrequently offered. As a result, genetic information is not incorporated into clinical care, and variant-targeted precision medicine trials struggle to enrol people with Parkinson's disease. Understanding the yield of genetic testing using an established gene panel in a large, geographically diverse North American population would help patients, clinicians, clinical researchers, laboratories and insurers better understand the importance of genetics in approaching Parkinson's disease.

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