Case report:Evolution of pulmonary manifestations and virological markers in critical COVID-19 infection in Bruton's agammaglobulinemia

Despite several reports and small case series on the disease course of SARS-CoV-2 infection in patients with inborn errors of immunity (IEI), including X-linked agammaglobulinemia (XLA), this topic remains incompletely described. Here we present the case of a 38-year-old unvaccinated man with XLA, who acquired SARS-CoV-2 infection and experienced a protracted disease course with 47 days of SARS-CoV-2 positivity, critical COVID-19 with respiratory insufficiency necessitating intensive care and ventilatory support, and prompting repeated intensified treatments with remdesivir, dexamethasone, and monoclonal antibodies to eventually control infection. We describe the disease course and treatment and review the current literature on COVID-19 susceptibility and evidence for vaccine efficacy in patients with XLA

Finishing the euchromatic sequence of the human genome

The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead

Aligning stakeholders’ understandings of the return-to-work process: a qualitative study on workplace meetings in inpatient multimodal occupational rehabilitation

Purpose: Although it is believed that involving the workplace and stakeholders in return-to-work interventions is beneficial, Norwegian occupational rehabilitation programmes rarely do. During 2015–2016, Hysnes Rehabilitation Centre provided inpatient multimodal occupational rehabilitation, including workplace meetings with employees, supervisors, and rehabilitation therapists. This study aims to explore the meetings´ content and stakeholders´ experiences.Methods: This was a multiple case study including non-participant observation of workplace meetings and interviews with participantsResults: Essential features of meetings included revealing and aligning the employee’s and supervisor’s understandings. Three components seemed instrumental in developing shared understandings leading to appropriate adjustments: 1) disclosing causes of absence, 2) validating difficulties, attitudes, and efforts, and 3) delimiting responsibility. Therapists played a vital role in addressing these components, supporting employees, and ensuring planning of appropriate solutions.Conclusion: Developing shared understandings by addressing and aligning illness- and return-to-work representations appears important for return-to-work interventions. Although pivotal to developing appropriate adjustments, disclosure depends upon supervisors’ display of understanding and should not be encouraged without knowledge of the employee´s work situation. How supervisors relate to employees and implement adjustments may be as important as the types of adjustments. The therapist’s support and validation of employees in vulnerable situations also seem valuable.Trial registration: The trial is registered at clinicaltrials.gov (NCT02541890), 4 September 2015. https://clinicaltrials.gov/ct2/show/NCT02541890

Unfolding the values of work - therapists´ experience of addressing the return to work process in occupational rehabilitation based on Acceptance and Commitment Therapy

Background Facilitating return to work can be challenging due to the complexity of work disability. Few studies have examined rehabilitation programs based on Acceptance and Commitment Therapy that intend to support return to work, and none have investigated therapists’ experience with providing such programs. The aim of this study was therefore to explore therapists’ experience of addressing the return to work process in an inpatient occupational rehabilitation program based on Acceptance and Commitment Therapy. Methods This was a qualitative interview study supported by participant observation. Therapists were interviewed regarding their experiences with addressing return to work in an inpatient occupational rehabilitation program based on Acceptance and Commitment Therapy. In addition, the rehabilitation program was investigated through participant observation. The interviews were analysed according to Interpretative Phenomenological Analysis and informed by an analysis of field notes from the participant observation. Results Acceptance and Commitment Therapy was experienced as a meaningful approach to facilitate return to work, as it allowed therapists to address all relevant aspects of the individual participant’s life that might influence work participation. The therapists’ twofold goal was to support participants in building both a meaningful life and sustainable work participation. To do so, they attempted to instil long-term and interrelated processes concerning ownership, causes of sick leave, relation to expectations, the values of work, and the scope of agency. Conclusion Unfolding values connected to work participation might reconcile the tension between work and family life by integrating work with other areas of life. Providing work participation with personal meaning also seems especially commensurable with a context where economy presents a poor incentive for return to work. Therapists should, however, be attentive to the need to secure the prominence of return to work by relating participants’ chosen themes explicitly to their return to work process. Therapists should also be aware of the dilemma that may arise when they attempt to refrain from providing advice while simultaneously encouraging actions they consider appropriate to facilitate sustainable work participation. In addition, having an individual-oriented approach to occupational rehabilitation may obscure the extent to which return to work is a multi-stakeholder process.publishedVersion© The Author(s). 2018 Open Access. This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/

Design of a study evaluating the effects, health economics, and stakeholder perspectives of a multi-component occupational rehabilitation program with an added workplace intervention - A study protocol

Background Recent research has suggested that interventions at the workplace might be the most potent ingredient in return to work interventions, but few studies have investigated the different effects of workplace interventions as part of occupational rehabilitation programs. The comprehensive design described in this article includes effect (on return to work and health outcomes), and health economic evaluations of a workplace intervention added to a multicomponent rehabilitation program. Qualitative and mixed method studies will investigate sick-listed persons’, rehabilitation therapists’ and employers’ perspectives on the usability and outcomes of the rehabilitation program and the workplace intervention. The program and intervention are provided to patients with musculoskeletal, psychological or general and unspecified diagnoses. The program is multi-component and includes Acceptance and Commitment Therapy, physical exercise, patient education and creating a plan for increased work participation. Methods Persons who are employed, aged from 18 to 60 years, with a current sick leave status of 50% or more and a diagnosis within the musculoskeletal, psychological or general and unspecified chapters of International Classification of Primary Care-2 (ICPC-2) will be recruited to a researcher-blinded parallel-group randomized controlled trial. All participants take part in an in-patient occupational rehabilitation program, while the intervention group also takes part in an intervention at the workplace. The effect and economic evaluation will investigate the effect of the added workplace intervention. The primary outcome measures will be time until full sustainable return to work and total number of sickness absence days in the 12 months after inclusion. Health economic evaluations will investigate the cost-effectiveness and cost-utility. Qualitative studies will investigate rehabilitation therapists’ experiences with working towards return to work within an ACT-approach and stakeholders’ experiences with the workplace intervention. A mixed methods study will combine quantitative and qualitative findings on the participants’ expectations and motivation for return to work. Discussion The outline of this comprehensive study could represent an important addition to the standard designs of return to work evaluation. The mixed methods design, with qualitative approaches as well as a rigorous randomized controlled trial, might prove useful to shed light on contextual factors.publishedVersion© The Author(s). 2018 Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License ( http://creativecommons.org/licenses/by/4.0/ ), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver ( http://creativecommons.org/publicdomain/zero/1.0/ ) applies to the data made available in this article, unless otherwise stated