Legal Limitations of the Anthropological Notion of the Gift in Roman Law

AbstractThe gift from an anthropological perspective differs from the rigid civil notion of donation, which presupposes an unilateral, gratuitous transfer from one person to another. The anthropological notion of the gift includes all gratuitous transfers, either material or non-material. Therefore, the relation between the anthropological notion of the gift and the legal notion of donation is one of inclusion. However, limitations imposed on donations in Roman law follow the same logic of the legal limitations on other gratuitous transfers such as the ones prohibited by leges sumptuaria. In this article I will analyze the reasons behind the legal interdictions in Roman law on some gratuitous spending, including donations between spouses, the ones prohibited by Lex cincia de donis et muneribus and by leges sumptuaria, interdictions that deal with the anthropological function of the gift in the greco-roman world

Can an extracorporeal glenoid aiming device be used to optimize the position of the glenoid component in total shoulder arthroplasty?

Purpose: Successful total shoulder arthroplasty (TSA) requires a correct position of the glenoid component. This study compares the accuracy of the positioning with a new developed glenoid aiming device and virtual three-dimensional computed tomography (3D-CT) scan positioning. Materials and Methods: On 39 scapulas from cadavers, a K-wire (KDev) was positioned using the glenoid aiming device. It consists of glenoid components connected to the aiming device, which cover 150 degrees of the inferior glenoid circle, has a fixed version and inclination and is available with several different radii. The aiming device is stabilized at the most medial scapular point. The K-wire is drilled from the center of the glenoid component to this most medial point. All scapulas were also scanned with CT and 3D reconstructed. A virtual K-wire (Kct) was positioned in the center of the glenoid and in the scapular plane. Several parameters were compared. Radius of the chosen glenoid component (rDev) and the virtual radius of the glenoid circle (rCT), spinal scapular length with the device (SSLdev) and virtual (SSLct), version and inclination between KDev and Kct, difference between entry point and exit point ("Matsen"-point). Results: Mean rDev: 14 mm +/- 1.7 mm and mean rCT: 13.5 mm +/- 1.6 mm. There was no significant difference between SSLdev (110.6 mm +/- 7.5 mm) and SSLct (108 mm +/- 7.5 mm). The version of KDev and Kct was -2.53 degrees and -2.17 degrees and the inclination 111.29 degrees and 111.66 degrees, respectively. The distance between the "Matsen-point" device and CT was 1.8 mm. Conclusion: This glenoid aiming device can position the K-wire on the glenoid with great accuracy and can, therefore, be helpful to position the glenoid component in TSA. The level of evidence: II

The genetic basis of apparently idiopathic ventricular fibrillation:A retrospective overview

Aims: During the diagnostic work-up of patients with idiopathic ventricular fibrillation (VF), next-generation sequencing panels can be considered to identify genotypes associated with arrhythmias. However, consensus for gene panel testing is still lacking, and variants of uncertain significance (VUS) are often identified. The aim of this study was to evaluate genetic testing and its results in idiopathic VF patients. Methods and results: We investigated 419 patients with available medical records from the Dutch Idiopathic VF Registry. Genetic testing was performed in 379 (91%) patients [median age at event 39 years (27-51), 60% male]. Single-gene testing was performed in 87 patients (23%) and was initiated more often in patients with idiopathic VF before 2010. Panel testing was performed in 292 patients (77%). The majority of causal (likely) pathogenic variants (LP/P, n = 56, 15%) entailed the DPP6 risk haplotype (n = 39, 70%). Moreover, 10 LP/P variants were found in cardiomyopathy genes (FLNC, MYL2, MYH7, PLN (two), TTN (four), RBM20), and 7 LP/P variants were identified in genes associated with cardiac arrhythmias (KCNQ1, SCN5A (2), RYR2 (four)). For eight patients (2%), identification of an LP/P variant resulted in a change of diagnosis. In 113 patients (30%), a VUS was identified. Broad panel testing resulted in a higher incidence of VUS in comparison to single-gene testing (38% vs. 3%, P &lt; 0.001). Conclusion: Almost all patients from the registry underwent, albeit not broad, genetic testing. The genetic yield of causal LP/P variants in idiopathic VF patients is 5%, increasing to 15% when including DPP6. In specific cases, the LP/P variant is the underlying diagnosis. A gene panel specifically for idiopathic VF patients is proposed.</p

Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.

PURPOSE: Stringent variant interpretation guidelines can lead to high rates of variants of uncertain significance (VUS) for genetically heterogeneous disease like long QT syndrome (LQTS) and Brugada syndrome (BrS). Quantitative and disease-specific customization of American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) guidelines can address this false negative rate. METHODS: We compared rare variant frequencies from 1847 LQTS (KCNQ1/KCNH2/SCN5A) and 3335 BrS (SCN5A) cases from the International LQTS/BrS Genetics Consortia to population-specific gnomAD data and developed disease-specific criteria for ACMG/AMP evidence classes-rarity (PM2/BS1 rules) and case enrichment of individual (PS4) and domain-specific (PM1) variants. RESULTS: Rare SCN5A variant prevalence differed between European (20.8%) and Japanese (8.9%) BrS patients (p = 5.7 × 10-18) and diagnosis with spontaneous (28.7%) versus induced (15.8%) Brugada type 1 electrocardiogram (ECG) (p = 1.3 × 10-13). Ion channel transmembrane regions and specific N-terminus (KCNH2) and C-terminus (KCNQ1/KCNH2) domains were characterized by high enrichment of case variants and >95% probability of pathogenicity. Applying the customized rules, 17.4% of European BrS and 74.8% of European LQTS cases had (likely) pathogenic variants, compared with estimated diagnostic yields (case excess over gnomAD) of 19.2%/82.1%, reducing VUS prevalence to close to background rare variant frequency. CONCLUSION: Large case-control data sets enable quantitative implementation of ACMG/AMP guidelines and increased sensitivity for inherited arrhythmia genetic testing

Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility.

Brugada syndrome (BrS) is a cardiac arrhythmia disorder associated with sudden death in young adults. With the exception of SCN5A, encoding the cardiac sodium channel Na1.5, susceptibility genes remain largely unknown. Here we performed a genome-wide association meta-analysis comprising 2,820 unrelated cases with BrS and 10,001 controls, and identified 21 association signals at 12 loci (10 new). Single nucleotide polymorphism (SNP)-heritability estimates indicate a strong polygenic influence. Polygenic risk score analyses based on the 21 susceptibility variants demonstrate varying cumulative contribution of common risk alleles among different patient subgroups, as well as genetic associations with cardiac electrical traits and disorders in the general population. The predominance of cardiac transcription factor loci indicates that transcriptional regulation is a key feature of BrS pathogenesis. Furthermore, functional studies conducted on MAPRE2, encoding the microtubule plus-end binding protein EB2, point to microtubule-related trafficking effects on Na1.5 expression as a new underlying molecular mechanism. Taken together, these findings broaden our understanding of the genetic architecture of BrS and provide new insights into its molecular underpinnings