Cross-sectional observational study of 208 patients with non-classical urea cycle disorders

Urea cycle disorders (UCDs) are inherited disorders of ammonia detoxification often regarded as mainly of relevance to pediatricians. Based on an increasing number of case studies it has become obvious that a significant number of UCD patients are affected by their disease in a non-classical way: presenting outside the newborn period, following a mild course, presenting with unusual clinical features, or asymptomatic patients with only biochemical signs of a UCD. These patients are surviving into adolescence and adulthood, rendering this group of diseases clinically relevant to adult physicians as well as pediatricians. In preparation for an international workshop we collected data on all patients with non-classical UCDs treated by the participants in 20 European metabolic centres. Information was collected on a cohort of 208 patients 50% of which were ≥ 16 years old. The largest subgroup (121 patients) had X-linked ornithine transcarbamylase deficiency (OTCD) of whom 83 were female and 29% of these were asymptomatic. In index patients, there was a mean delay from first symptoms to diagnosis of 1.6 years. Cognitive impairment was present in 36% of all patients including female OTCD patients (in 31%) and those 41 patients identified presymptomatically following positive newborn screening (in 12%). In conclusion, UCD patients with non-classical clinical presentations require the interest and care of adult physicians and have a high risk of neurological complications. To improve the outcome of UCDs, a greater awareness by health professionals of the importance of hyperammonemia and UCDs, and ultimately avoidance of the still long delay to correctly diagnose the patients, is crucial.

Quantum and classical criticality in a dimerized quantum antiferromagnet

A quantum critical point (QCP) is a singularity in the phase diagram arising because of quantum mechanical fluctuations. The exotic properties of some of the most enigmatic physical systems, including unconventional metals and superconductors, quantum magnets and ultracold atomic condensates, have been related to the importance of critical quantum and thermal fluctuations near such a point. However, direct and continuous control of these fluctuations has been difficult to realize, and complete thermodynamic and spectroscopic information is required to disentangle the effects of quantum and classical physics around a QCP. Here we achieve this control in a high-pressure, high-resolution neutron scattering experiment on the quantum dimer material TlCuCl3. By measuring the magnetic excitation spectrum across the entire quantum critical phase diagram, we illustrate the similarities between quantum and thermal melting of magnetic order. We prove the critical nature of the unconventional longitudinal (Higgs) mode of the ordered phase by damping it thermally. We demonstrate the development of two types of criticality, quantum and classical, and use their static and dynamic scaling properties to conclude that quantum and thermal fluctuations can behave largely independently near a QCP.

Denying the foreseeability of an event as a means of self-protection. The Impact of Self-Threatening Outcome Information on the Strength of the Hindsight Bias

The hindsight bias represents the tendency of people to falsely believe that they would have predicted the outcome of an event, once the outcome is known. Two experiments will be presented that show a reduction or even reversal of the hindsight bias when the outcome information is self-threatening for the participants. Participants read a report of an interaction between a man and a woman that ended with different outcomes: The woman was raped vs. the woman was not raped vs. no outcome information was given. Results of the first experiment indicated that especially female participants, who did not accept rape myths, showed a reversed hindsight bias, when they received the rape outcome information. The more threatening the rape outcome had been, the lower was their estimated likelihood of rape. Results of the second experiment confirmed those of the first. Female participants, who did not accept rape myths and perceived themselves highly similar to the victim, showed a strong reversed hindsight bias, when threatened by the rape outcome, whereas female participants, who did believe in rape myth and were not similar to the victim, showed a classical hindsight bias. These effects were interpreted in terms of self-serving or in-group serving functions of the hindsight bias: Participants deny the foreseeability of a self-threatening outcome as a means of self-protection even if they are not personally affected by the negative information, but a member of their group.