Ethics in genetic counselling

Difficult ethical issues arise for patients and professionals in medical genetics, and often relate to the patient’s family or their social context. Tackling these issues requires sensitivity to nuances of communication and a commitment to clarity and consistency. It also benefits from an awareness of different approaches to ethical theory. Many of the ethical problems encountered in genetics relate to tensions between the wishes or interests of different people, sometimes even people who do not (yet) exist or exist as embryos, either in an established pregnancy or in vitro. Concern for the long-term welfare of a child or young person, or possible future children, or for other members of the family, may lead to tensions felt by the patient (client) in genetic counselling. Differences in perspective may also arise between the patient and professional when the latter recommends disclosure of information to relatives and the patient finds that too difficult, or when the professional considers the genetic testing of a child, sought by parents, to be inappropriate. The expectations of a patient’s community may also lead to the differences in perspective between patient and counsellor. Recent developments of genetic technology permit genome-wide investigations. These have generated additional and more complex data that amplify and exacerbate some pre-existing ethical problems, including those presented by incidental (additional sought and secondary) findings and the recognition of variants currently of uncertain significance, so that reports of genomic investigations may often be provisional rather than definitive. Experience is being gained with these problems but substantial challenges are likely to persist in the long term.Peer reviewe

Dynamics of serum antibodies to and load of porcine circovirus type 2 (PCV2) in pigs in three finishing herds, affected or not by postweaning multisystemic wasting syndrome

Background: Despite that PMWS commonly affects pigs aged eight to sixteen weeks; most studies of PMWS have been conducted during the period before transfer to finishing herds. This study focused on PCV2 load and antibody dynamics in finishing herds with different PMWS status. Methods: Sequentially collected blood samples from 40 pigs in each of two Swedish (A and B) and one Norwegian (C) finishing herds were analysed for serum PCV2-load and -antibodies and saliva cortisol. The two Swedish herds differed in PMWS status, despite receiving animals from the same sow pool (multi-site production). However, the PMWS-deemed herd (A) had previously also received pigs from the spot market. ResultsThe initial serum PCV2 load was similar in the two Swedish herds. In herd A, it peaked after two weeks in the finishing herd and a high number of the pigs had serum PCV2 levels above 10(7) per ml. The antibody titres increased continually with exception for the pigs that developed PMWS, that had initially low and then declining antibody levels. Pigs in the healthy herd B also expressed high titres of antibodies to PCV2 on arrival but remained at that level throughout the study whereas the viral load steadily decreased. No PCV2 antibodies and only low amounts of PCV2 DNA were detected in serum collected during the first five weeks in the PMWS-free herd C. Thereafter a peak in serum PCV2 load accompanied by an antibody response was recorded. PCV2 from the two Swedish herds grouped into genotype PCV2b whereas the Norwegian isolate grouped into PCV2a. Cortisol levels were lower in herd C than in herds A and B. Conclusions: The most obvious difference between the Swedish finishing herds and the Norwegian herd was the time of infection with PCV2 in relation to the time of allocation, as well as the genotype of PCV2. Clinical PMWS was preceded by low levels of serum antibodies and a high load of PCV2 but did not develop in all such animals. It is notable that herd A became affected by PMWS after errors in management routine, emphasising the importance of proper hygiene and general disease-preventing measures

The paradox of public acceptance of bike sharing in Gothenburg

Bike sharing is one of the most promising urban planning interventions to facilitate an all-necessary transition towards a more sustainable transport paradigm. Regardless of the fact that hundreds of schemes run in more than 50 countries worldwide, bike sharing is still moderately investigated by research. This paper reports on a primarily quantitative study of 558 responses that was set to frame attitudes reflecting public acceptance towards the rapidly expanding bike-sharing scheme in Gothenburg (Styr & Ställ), in an attempt to identify the ‘formula for success’. The respondents generally believed that Styr & Ställ is a pro-environmental, inexpensive and healthy transport mode, which complements the city’s public transport services and promotes a more human-friendly identity for Gothenburg. Even the respondents that self-reported a small (or no) likelihood to use bike sharing were positive towards the scheme. This means that they recognise that bike sharing has a significant pro-social potential and is not a system favouring a particular road-user segment over others that might not be interested or able to use it. The fact that the majority of the respondents do not Bike sharing is one of the most promising urban planning interventions to facilitate an all-necessary transition towards a more sustainable transport paradigm. Regardless of the fact that hundreds of schemes run in more than 50 countries worldwide, bike sharing is still moderately investigated by research. This paper reports on a primarily quantitative study of 558 responses that was set to frame attitudes reflecting public acceptance towards the rapidly expanding bike-sharing scheme in Gothenburg (Styr & Ställ), in an attempt to identify the ‘formula for success’. The respondents generally believed that Styr & Ställ is a pro-environmental, inexpensive and healthy transport mode, which complements the city’s public transport services and promotes a more human-friendly identity for Gothenburg. Even the respondents that self-reported a small (or no) likelihood to use bike sharing were positive towards the scheme. This means that they recognise that bike sharing has a significant pro-social potential and is not a system favouring a particular road-user segment over others that might not be interested or able to use it. The fact that the majority of the respondents do not use the scheme and yet its popularity is still vast indicates that there is much potential for more use in real terms

Eradication of Salmonella Yoruba in an integrated pig herd

An integrated SPF herd with 320 sows was found infected with Salmonella Yoruba during an annual control among sows, aiming to verify freedom from Salmonella infections. It is believed that the infection was introduced to the herd by purchase of feed. The herd performed an age segregated rearing system. Sows and piglets were reared at a central farm, while growers (25-1 00 kg body weight) were reared at sub-estates. The growers were free from the infection, and as a consequence a specially designed eradication program was designed

A critical review of the impacts of cover crops on nitrogen leaching, net greenhouse gas balance and crop productivity

This work contributes to the UK-China Virtual Joint Centre N-Circle (grant number BB/N013484/1), SuperG (funded under EU Horizon 2020 programme) and ADVENT (grant number NE/M019691/1). DRC was supported by the UK-China Virtual joint Centre for Agricultural Nitrogen (CINAg, BB/N013468/1) and the UK-Brazil Virtual Joint Centre to deliver enhanced N-use efficiency via an integrated soil-plant systems approach (NUCLEUS), which are jointly supported by Newton fund via UK BBSRC and NERC. Jaak Truu received financing from Estonian Research Council (grant PRG548).Peer reviewedPublisher PD

Dominantly inherited distal nemaline/cap myopathy caused by a large deletion in the nebulin gene

We report the first family with a dominantly inherited mutation of the nebulin gene (NEB). This 100kb in-frame deletion encompasses NEB exons 14-89, causing distal nemaline/cap myopathy in a three-generation family. It is the largest deletion characterized in NEB hitherto. The mutated allele was shown to be expressed at the mRNA level and furthermore, for the first time, a deletion was shown to cause the production of a smaller mutant nebulin protein. Thus, we suggest that this novel mutant nebulin protein has a dominant-negative effect, explaining the first documented dominant inheritance of nebulin-caused myopathy. The index patient, a young man, was more severely affected than his mother and grandmother. His first symptom was foot drop at the age of three, followed by distal muscle atrophy, slight hypomimia, high-arched palate, and weakness of the neck and elbow flexors, hands, tibialis anterior and toe extensors. Muscle biopsies showed myopathic features with type 1 fibre predominance in the index patient and nemaline bodies and cap-like structures in biopsies from his mother and grandmother. The muscle biopsy findings constitute a further example of nemaline bodies and cap-like structures being part of the same spectrum of pathological changes. (C) 2019 Elsevier B.V. All rights reserved.Peer reviewe