Routine genetic screening with a multi-gene panel in patients with pheochromocytomas

PURPOSE: Several new gene mutations have been reported in recent years to be associated with a risk of familial pheochromocytoma. However, it is unclear as to whether extensive genetic testing is required in all patients. METHODS: The clinical data of consecutive patients operated for pheochromocytoma over a decade in a tertiary referral center were reviewed. Genetic screening was performed using a 10-gene panel: RET, VHL, SDHB, SDHD, SDHA, SDHC, SDHAF2, MAX, TMEM127 and FH. RESULTS: A total of 166 patients were analyzed: 87 of them had genetic screening performed (39 M: 44.8%, 48 F: 55.2%, age range 6-81 years, mean 45±16.8 years). In total, 22/87 (25.3%) patients had germline mutations, while 65/87 (74.7%) patients presented with apparently sporadic tumors. Germline VHL mutations were identified in 11.7% of patients, RET in 6.8% (five MEN2A/MEN2 and one MEN2B/MEN3), SDHD in 2.3%, MAX in 2.3%, SDHB in 1.1%, and TMEM127 in 1.1% of patients. At diagnosis, 15.1% of patients with unilateral non-syndromic pheochromocytoma showed germline mutations. We identified 19.7% of mutations in patients with unilateral-non-recurrent pheochromocytomas within 5 years vs. 50% in the recurrent-bilateral-metastatic group (p = 0.01). Germline mutations were more frequently seen with bilateral pheochromocytomas (p = 0.001): 80% of patients with bilateral disease had germline mutations (4 VHL, 3 RET, 1 MAX). CONCLUSIONS: The advent of rapid genetic screening using a gene-panel makes it feasible to screen large cohorts of patients and provides a valuable tool to contribute to the prediction of bilateral and malignant disease and to screen family members

Aristotle's Psychology, Emotion's Rationality, and Cognition of Being: A Critical Note on Ogren's Position

Abstract Ogren advances a hermeneutic interpretation of Aristotle that brings to light several important and overlooked points about Aristotle, emotion, and cognition. In my article, I argue that his interpretation is on certain points correct, particularly in stressing that the distinctively human, irrational, emotional and desiring part of the soul is rational to a certain extent, and through its own forms of cognition, revelatory of being. His interpretation errs, however, by construing the fully rational part of the soul in a fundamentally un-Aristotelian way, as merely a faculty informed by the rules of formal logic. After indicating Ogren's interpretation's strong points, then its central errors, I present an alternate exegetically grounded Aristotelian interpretation of these matters. Specifically, I show that Aristotle's division of the parts of the soul is more complicated and ambiguous than Ogren's interpretation. Then, I show that, for Aristotle, the fully rational part of the soul is, contra Ogren, concerned with practical matters and life, and possesses substantive modes of cognition of the world. I finish by exploring one of these, specifically perception of moral qualities, and discuss some recent Aristotle scholarship engaging this issue

Were Neanderthals Rational? A Stoic Approach

This paper adopts the philosophical approach of Stoicism as the basis for re-examining the cognitive and ethical relationship between Homo sapiens and Neanderthals. Stoicism sets out a clear criterion for the special moral status of human beings, namely rationality. We explore to what extent Neanderthals were sufficiently rational to be considered “human”. Recent findings in the fields of palaeoanthropology and palaeogenetics show that Neanderthals possessed high-level cognitive abilities and produced viable offspring with anatomically modern humans. Our discussion offers insights for reflecting on the relationship between humans and other forms of natural life and any moral obligations that result