Exploring Symptom Clusters and Their Measurements in Patients With Lung Cancer: A Scoping Review for Practice and Research.

PROBLEM IDENTIFICATION: This scoping review aimed to explore symptom clusters (SCs) in patients with lung cancer and how included symptoms and symptom dimensions are measured. LITERATURE SEARCH: PubMed®, CINAHL®, Scopus®, and Cochrane Library were searched for studies published until December 31, 2021. Fifty-three articles were included. DATA EVALUATION: Data extracted included descriptive items and SC constellations. Patient-reported outcome instruments and measured symptom dimensions were described according to the middle-range theory of unpleasant symptoms. SYNTHESIS: 13 articles investigated SCs a priori and 40 de novo. Thirty-six instruments were used, mostly measuring intensity alone or in combination with timing. Qualitative articles (n = 6) provided rich descriptions within the distress, timing, and quality dimensions. IMPLICATIONS FOR RESEARCH: Fatigue was the symptom found to most frequently co-occur with other symptoms in SCs. Fatigue, psychological symptoms, and nutritional aspects are emphasized as important areas for oncology nursing practice and further research to improve SC management for patients with lung cancer.

Radiographers' experience of preventing patient safety incidents in the context of radiological examinations.

AIM: To describe factors that prevent patient safety incidents in connection with the radiological examination from the radiographer's perspective. BACKGROUND: Radiology plays an important role in the care chain and involves diagnostic examinations and treatments using various radiation sources and different techniques. Risks for patient safety incidents exist in every phase of a radiological examination. Appropriate use of medical imaging requires a multidisciplinary approach involving staff of different categories to meet the medical objectives and the patient's care needs. In accordance with a Safety-II approach, it is therefore important to understand why things go right and ensure that they do by supporting the conditions for right things to happen. DESIGN: A qualitative study with a descriptive design. METHODS: Semi-structured interviews were conducted with 17 radiographers. The data were analysed using theoretical thematic analysis based on the Systems Engineering Initiative for Patient Safety model. RESULTS: The analysis yielded 20 sub-themes, which describe different success factors contributing to patient safety. CONCLUSION: Proactive work should focus on collaboration and sharing the necessary knowledge, internally and externally, for care in connection with the radiological examination. The radiological and peri-radiographic knowledge should include monitoring the patient's safety needs before, during and after the radiological examination. The referring clinician has a central role in writing relevant referrals and the radiographer's competence is crucial in monitoring the patient's safety needs. A good patient safety culture is required and working with standards is important.

Pain and pain management in children and adolescents receiving hospital care: a cross-sectional study from Sweden.

BACKGROUND: Pain is a common symptom in children receiving hospital care. Adequate pain management in paediatric patients is of the utmost importance. Few studies have investigated children's own experiences of pain during hospitalization. AIM: To describe the prevalence of pain, self-reported pain intensity at rest and during movement, pain management and compliance with pain treatment guidelines in children and adolescents receiving hospital care. Furthermore, to examine self-reported statements about pain relief and how often staff asked about pain. METHODS: A quantitative, cross-sectional study with descriptive statistics as the data analysis method was conducted at a county hospital in western Sweden. Sixty-nine children/adolescents aged 6-18 years who had experienced pain during their hospital stay were included. A structured, verbally administered questionnaire was used to obtain pain reports. The participants were also asked what they considered alleviated pain and how often they told staff about pain. Patient demographics, prescribed analgesics and documentation of pain rating were obtained from medical records. RESULTS: Fifty children/adolescents (72%) experienced moderate to severe pain in the previous 24 hours. At the time of the interview 36% reported moderate to severe pain at rest and 58% during movement. Seven participants (10%) reported severe pain both at rest and during movement. About one-third were on a regular multimodal analgesic regimen and 28% had used a validated pain rating scale. Thirty children/adolescents (43%) reported that they had experienced procedural pain in addition to their underlying pain condition. Most of the children/adolescents (74%) reported that analgesics provided pain relief. Forty (58%) stated that various non-pharmacological methods were helpful. CONCLUSIONS: Despite evidence-based guidelines, half of the children/adolescents experienced moderate to severe pain, highlighting the need for improvement. Pain levels should be assessed both at rest and during movement. Response to treatment should be evaluated to prevent undertreatment of pain. Compliance with guidelines and professional communication are of the utmost importance for pain management in children/adolescents. Non-pharmacological methods are a valuable part of a pain management strategy. This study shows that it is important to evaluate and improve pain care also outside specialised tertiary clinics.

Integrating perspectives of patients, healthcare professionals, system developers and academics in the co-design of a digital information tool.

BACKGROUND: Patients diagnosed with cancer who are due to commence radiotherapy, often, despite the provision of a considerable amount of information, report a range of unmet information needs about the treatment process. Factors such as inadequate provision of information, or the stressful situation of having to deal with information about unfamiliar things, may influence the patient's ability to comprehend the information. There is a need to further advance the format in which such information is presented. The composition of information should be tailored according to the patient's individual needs and style of learning. METHOD AND FINDINGS: The PD methodology is frequently used when a technology designed artefact is the desired result of the process. This research is descriptive of its kind and provides a transparent description of the co-design process used to develop an innovative digital information tool employing PD methodology where several stakeholders participated as co-designers. Involving different stakeholders in the process in line with recommended PD activities enabled us to develop a digital information tool that has the potential to be relevant and user-friendly for the ultimate consumer. CONCLUSIONS: Facilitating collaboration, structured PD activities can help researchers, healthcare professionals and patients to co-design patient information that meets the end users' needs. Furthermore, it can enhance the rigor of the process, ensure the relevance of the information, and finally have a potential to employ a positive effect on the reach of the related digital information tool.

Evaluation of skin reactions during proton beam radiotherapy - Patient-reported versus clinician-reported.

BACKGROUND: Skin reaction is a common side-effect of radiotherapy and often only assessed as clinician-reported outcome (CRO). The aim was to examine and compare patient-reported outcome (PRO) of skin reactions with CRO for signs of acute skin reactions for patients with primary brain tumour receiving proton beam radiotherapy (PBT). A further aim was to explore patients' experiences of the skin reactions. METHODS: Acute skin reactions were assessed one week after start of treatment, mid-treatment and end of treatment among 253 patients with primary brain tumour who underwent PBT. PRO skin reactions were assessed with the RSAS and CRO according to the RTOG scale. Fleiss' kappa was performed to measure the inter-rater agreement of the assessments of skin reactions. RESULTS: The results showed a discrepancy between PRO and CRO acute skin reactions. Radiation dose was associated with increased skin reactions, but no correlations were seen for age, gender, education, occupation, other treatment or smoking. There was a poor agreement between patients and clinicians (κ = -0.016) one week after the start of PBT, poor (κ = -0.045) to (κ = 0.396) moderate agreement at mid treatment and poor (κ = -0.010) to (κ = 0.296) moderate agreement at end of treatment. Generally, patients' symptom distress toward skin reactions was low at all time points. CONCLUSION: The poor agreement between PRO and CRO shows that the patient needs to be involved in assessments of skin reactions for a more complete understanding of skin reactions due to PBT. This may also improve patient experience regarding involvement in their own care.

Health-related quality of life in patients with primary brain tumors during and three months after treatment with proton beam therapy.

BACKGROUND: Proton beam therapy (PBT) is increasingly administered to patients with primary brain tumors. Benefits of new treatments must be weighed against side effects and possible deterioration in health-related quality of life (HRQoL). The aim of this study was to describe and compare HRQoL, including acute symptom experiences and associated factors, in patients with malignant and benign brain tumors treated with PBT. MATERIALS AND METHODS: Adult PBT-treated patients with primary brain tumors (n = 266) were studied. HRQoL was assessed with EORTC QLQ-C30, QLQ-BN20, HADS, ISI and MFI before, during and three months after treatment. Associations with demographic and medical factors were explored. RESULTS: Between baseline and three months post-treatment: HRQoL decreased significantly in the global health/QOL domains physical functioning, role functioning and cognitive functioning in the malignant group, global health/QOL and physical functioning decreased significantly in the benign group, more comorbidity was significantly associated with increased motor dysfunction, leg weakness, headache and future uncertainty. Fatigue and depression were the most frequent symptoms in both groups. Independent predictors of risk factor recognition were age, sex, chemotherapy, comorbidity and education level. DISCUSSION: Global health/QOL in patient with brain tumors is very complex and multidimensional. Symptoms are interrelated and related to patient, tumor and treatment factors. It is important to identify aspects of HRQoL that may be affected by treatment. These include both benefits, expected to improve HRQoL, and negative changes such as symptom experience and influencing factors. Evidence-based guidelines are needed for symptom management, and for high quality of care for patients experiencing low PBT-related HRQoL.

Development and initial psychometric evaluation of a radiotherapy-related symptom assessment tool, based on data from patients with brain tumours undergoing proton beam therapy.

BACKGROUND: Currently, no available tool easily and effectively measures both the frequency, intensity and distress of symptoms among patients receiving radiotherapy. A core symptom set (fatigue, insomnia, pain, appetite loss, cognitive problems, anxiety, nausea, depression, constipation, diarrhoea and skin reaction) has been identified and assessed across oncology research to better understand the pattern of symptoms and treatment side effects. AIM: The aim was to develop a tool measuring the multiple-symptom experience in patients undergoing radiotherapy and evaluate its psychometric properties (validity, reliability and responsiveness). DESIGN: This study has a prospective, longitudinal and quantitative design. METHODS: We developed a patient-reported outcome questionnaire, the Radiotherapy-Related Symptoms Assessment Scale to assess the frequency, intensity and distress associated with symptoms. Patients (n = 175) with brain tumours undergoing proton beam therapy completed the Radiotherapy-Related Symptoms Assessment Scale and the health-related quality of life questionnaire (EORTC QLQ-C30) during treatment. We assessed the validity, reliability and responsiveness of the Radiotherapy-Related Symptoms Assessment Scale and evaluated the validity against QLQ-C30. RESULTS: There were significant questionnaire-questionnaire correlations regarding selected items, primarily fatigue, insomnia and pain, indicating satisfactory criterion-related validity. The Radiotherapy-Related Symptoms Assessment Scale had fair to good retest reliability. CONCLUSION: The Radiotherapy-Related Symptoms Assessment Scale is a valid instrument for assessing symptom intensity and distress in patients with brain tumour undergoing PBT, with psychometric properties within the expected range. The Radiotherapy-Related Symptoms Assessment Scale provides nurses with substantial information on symptom experience but requires little effort from the patient. Additional studies are required to further assess the psychometric properties in patients with different cancer diagnoses receiving conventional radiotherapy.

Managing an altered social context-Patients experiences of staying away from home while undergoing proton beam therapy.

Aim: To illuminate the experience of an altered social context for patients with primary brain tumours living away from home while undergoing proton beam therapy. Design: A descriptive, qualitative cross-sectional interview study. Methods: Nineteen patients were interviewed between December 2015-August 2016, either during (N = 7) or before and after (N = 12) their proton beam therapy. A hermeneutical analysis was performed. Results: Participants made adjustments to achieve control and well-being during the treatment period. The analysis also revealed two interrelated patterns that helped participants adjust: being part of the family from a distance and seeking affinity. Conclusion: It is important that patients receiving treatment far from home find a way to remain a part of their family and find affinity in the altered social context. Health professionals can prepare patients for the treatment period and can implement interventions to promote well-being for both patients and their relatives.

The Art of Living With Symptoms: A Qualitative Study Among Patients With Primary Brain Tumors Receiving Proton Beam Therapy.

BACKGROUND: Symptom management in conjunction with proton beam therapy (PBT) from patient's perspective has not been explored. Such knowledge is essential to optimize the care in this relatively new treatment modality. OBJECTIVE: The aim of this study was to explore the process of symptom management in patients with brain tumor receiving PBT. METHODS: Participants were 22 patients with primary brain tumor who received PBT, recruited in collaboration with a national center for proton therapy and 2 oncology clinics at 2 university hospitals in Sweden. Interviews using open-ended questions were conducted before, during, and/or after treatment. Verbatim interview transcripts were analyzed using classic Grounded Theory. RESULTS: "The art of living with symptoms" emerged as the core concept. This encompassed 3 interconnected symptom management concepts: "Adapting to limited ability," "Learning about oneself," and "Creating new routines." These concepts were summarized in a substantive theoretical model of symptom management. Despite the struggle to manage symptoms, participants lived a satisfactory life. CONCLUSIONS: Symptom management in conjunction with PBT comprises a process of action, thoughts, and emotions. The concepts that emerged indicated patients' symptom management strategies were based on their own resources. IMPLICATIONS FOR PRACTICE: It is important that PBT facilities develop an approach that facilitates the symptom management process based on patients' experiences of symptoms, as well as their actions and available resources.

Benefits of using the Brief Pain Inventory in patients with cancer pain: an intervention study conducted in Swedish hospitals.

PURPOSE: The prevalence of cancer pain is too high. There is a need for improvement of pain management in cancer care. The aim of this study was to explore whether the use of the multidimensional pain assessment questionnaire Brief Pain Inventory (BPI) could improve pain relief in hospitalized patients with cancer. METHODS: A controlled intervention study was performed at two hospitals in western Sweden, 264 patients were included, 132 formed a control group and 132 an intervention group. All participants completed the BPI and the Edmonton Symptom Assessment Scale (ESAS) at baseline. Only the researcher had access to questionnaires from the control group. The completed forms from the intervention group were presented to the patients' care team. A follow-up took place after 2-5 days when patients in both groups rated the scales a second time. RESULTS: In the intervention group, significant differences in all measured items of the BPI were found at follow-up compared with baseline. Symptoms rated with the ESAS also decreased significantly, except shortness of breath. At follow-up, a significant increase in regular use of paracetamol, anti-neuropathic pain drugs and opioids was found, as well as elevated doses of fixed-schedule opioids. In the control group, differences between baseline and follow-up were significant regarding average pain and worst pain over the past 24 h. CONCLUSION: Presenting the patient-reported BPI to the care team helped them to focus on patients' pain, identify pain mechanisms and adjust analgesics accordingly. A possible explanation for the results is changes in the medication prescribed.

Patients' lived experiences of waiting for and undergoing endovascular aortic repair in a hybrid operating room: A qualitative study.

AIMS AND OBJECTIVES: The overall aim of the study was to illuminate the patients' lived experiences of waiting for and undergoing an endovascular aortic repair (EVAR) in a hybrid operating room (OR). BACKGROUND: The hybrid OR is an example of the technological advancements within hospitals. The environmental impact on humans is well recognised but is rarely taken into account when hospitals are designed or rebuilt. The patient's experience of a hybrid OR is not earlier described. DESIGN: A qualitative design based on hermeneutic phenomenology was implemented. METHODS: Interviews were conducted with 18 patients. A thematic interpretation based on van Manen's approach was then used to analyse the findings. The consolidated criteria for reporting qualitative studies (COREQ) were used (Data S1). RESULTS: The following three themes emerged from the interviews: (a) being scheduled for surgery induced both anxiety and hopefulness; (b) feeling watched over and surrendering to others in the technology intense environment and (c) feeling relief but unexpected exhaustion after surgery. In the discussion, the results were additionally reflected upon out from the four lifeworld existentials: lived body, lived space, lived time and lived others. CONCLUSIONS: The hybrid OR technology did not frighten the patients, but it was also not an environment that promoted or was conductive to having a dialogue with the staff. The disease and surgery brought feelings of anxiety, which was largely associated with the uncertainty of the situation. We suggest that continuity in contact with staff and patient-centred information could be solutions to further calm the patients. RELEVANCE TO CLINICAL PRACTICE: The hybrid OR environment itself did not seem to frighten the patient, but the way the high-tech environment increased the distance between the patient and the multiple staff members needs further investigation.

Team composition and staff roles in a hybrid operating room: A prospective study using video observations.

AIM: The aim of the study was to evaluate team composition and staff roles in a hybrid operating room during endovascular aortic repairs. DESIGN: Quantitative descriptive design. METHODS: Nine endovascular aortic repairs procedures were video-recorded between December 2014 and September 2015. The data analysis involved examining the work process, number of people in the room and categories of staff and their involvement in the procedure. RESULTS: The procedures were divided into four phases. The hybrid operating room was most crowded in phase 3 when the skin wound was open. Some staff categories were in the room for the entire procedure even if they were not actively involved. The largest number of people simultaneously in the room was 14.

The drama in the hybrid OR: video observations of work processes and staff collaboration during endovascular aortic repair.

Introduction: A hybrid operating room (OR) is a surgical OR with integrated imaging equipment and the possibility to serve both open surgery and image-guided interventions. Aim: This study aimed to investigate the work processes and types of collaboration in a hybrid OR during endovascular aortic repair (EVAR). Methods: Data consisted of video recordings from nine procedures, with a total recording time of 48 hrs 39 mins. The procedures were divided into four episodes (Acts). A qualitative cross-case analysis was conducted, resulting in a typical case. The type of collaboration during specific tasks was discussed and determined based on Thylefors´ team typology. Results: An extensive amount of safety activities occurred in the preparation phase (Acts 1 and 2), involving a number of staff categories. After the skin incision (Act 3), the main activities were performed by fewer staff categories, while some persons had a standby position and there were persons who were not at all involved in the procedure. Discussion: The different specialist staff in the hybrid OR worked through different types of collaboration: multi-, inter- and transprofessional. The level of needed collaboration depended on the activity performed, but it was largely multiprofessional and took place largely in separate groups of specialties: anesthesiology, surgery and radiology. Waiting time and overlapping tasks indicate that the procedures could be more efficient and safe for the patient. Conclusion: This study highlights that the three expertise specialties were required for safe treatment in the hybrid OR, but the extent of interprofessional activities was limited. Our results provide a basis for the development of more effective procedures with closer and more efficient interprofessional collaboration and reduction of overlapping roles. Considerable waiting times, traffic flow and presence of people who were not involved in the patient care are areas of further investigation.

Identifying bone sarcoma survivors facing psychosocial challenges. A study of trajectories following treatment.

OBJECTIVE: Bone sarcoma survivors face a number of physical and psychosocial challenges in relation to the late effects they experience following treatment. The present study aimed to identify and explore the different trajectories that bone sarcoma survivors might navigate during follow-up. METHODS: In-depth and semi-structured interviews were conducted, and an inductive thematic analysis was performed. RESULTS: When they were interviewed three to ten years after the primary diagnosis, the eighteen bone cancer survivors were found to be in three different rehabilitation phases that followed fairly distinct trajectories, namely, back to normal, a new normal and still struggling. Only three participants felt that they had returned to a life that was quite similar to the one they had lived prior to having cancer. Fifteen participants considered their lives and their bodies to be significantly altered. CONCLUSION: Sarcoma survivors who undergo life-changing treatment and return to very different lives than they had before should be identified by healthcare professionals and guided through this demanding phase to better cope with their new living conditions. Information on and tailored guidance related to psychosocial challenges may be of particular importance. Active focus on reorientation, as well as possibilities for growth, seems to be important.

Symptom Clusters in Patients With Brain Tumors Undergoing Proton Beam Therapy.

OBJECTIVES: To explore symptom clusters during proton beam therapy in patients with primary brain tumors and investigate associations among symptom clusters, demographic variables, and comorbidity in this patient population. SAMPLE & SETTING: Data were collected from 187 adult patients with primary brain tumors during their treatment periods in the Skandion Clinic in Uppsala, Sweden. Symptoms were assessed with the Radiotherapy-Related Symptoms Assessment Scale, and comorbidity was evaluated with the Self-Administered Comorbidity Questionnaire. METHODS & VARIABLES: The study used a quantitative and longitudinal design. Exploratory factor analysis was used to determine the underlying structure of symptom clusters. RESULTS: Three clusters were identified. IMPLICATIONS FOR NURSING: Building knowledge about how these symptoms interact and are clustered will support healthcare professionals to more efficiently relieve symptom clusters during proton beam therapy.

Evaluation of quality of care in relation to health-related quality of life of patients diagnosed with brain tumor: a novel clinic for proton beam therapy.

PURPOSE: Patients with brain tumors constitute a vulnerable group, and it is important that they receive the highest quality of care (QoC). The study aim was to describe the perceptions of QoC and its association with health-related quality of life in brain tumor patients undergoing proton beam therapy in a newly established clinic. METHOD: Data were collected at the start of treatment and after 3 and 6 weeks. Adult patients (≥ 18 years old) with brain tumors (n = 186) completed two self-administered questionnaires: a modified Quality from the Patients' Perspective, which measures perceived reality and subjective importance of care, and the EORTC QLQ-C30. Data were analyzed using parametric and non-parametric statistical tests. RESULTS: The perceived QoC was highest for treatment information and lowest for dietician and smoking information, whereas interaction with doctors and nurses was rated as the most important aspect of quality of care. Subjective importance ratings were significantly higher than perceived reality ratings for 60% of items. A better global health was moderately correlated with a higher perceived support for fatigue. CONCLUSIONS: A need for quality improvement was identified for several aspects of patient care. Greater symptom distress during the treatment period led to greater perceived importance of symptom support. Ensuring QoC is complex and collaboration with other health care professionals is essential. RELEVANCE TO CLINICAL PRACTICE: The clinic could improve QoC regarding information about possible symptoms, adjust care according to patient perceptions of importance, and involve patients in care decisions.

Symptom Dimensions as Outcomes in Interventions for Patients With Cancer: A Systematic Review

PROBLEM IDENTIFICATION: Symptom experience in patients with cancer consists of several dimensions, often measured descriptively within various populations but seldom used as intervention outcomes. This review aims at describing symptom dimensions as outcomes of interventions designed to alleviate symptoms in patients with cancer and to describe these interventions' effects on at least two symptom dimensions. 
. LITERATURE SEARCH: The PRISMA statement for reporting systematic reviews was used. Searches were undertaken in various indexing sites.
. DATA EVALUATION: Extracted data included design, participants, intervention and control group treatment, targeted symptom dimension, and summary of results.
. SYNTHESIS: 2,041 articles were identified and 15 were included. The symptom dimensions were intensity, distress, prevalence, frequency, consequences, and quality. Eleven interventions had significant effect on symptom dimensions, mostly on intensity and distress.
. IMPLICATIONS FOR PRACTICE: Oncology nurses need clinical skills to be able to understand patients' experiences through their narratives. Various interventions are targeted at symptoms, and these need to be implemented to provide evidence-based symptom management.

Pain and pain management in hospitalized patients before and after an intervention.

BACKGROUND AND AIM: Studies have shown that pain is common among hospitalized patients and that there is a lack of compliance with pain management guidelines. Improving pain management does not only involve developing new drugs or technology; even more important is an effective organisation that utilises existing expertise. The aim of this study was to investigate whether pain in hospitalized patients can be reduced by implementing evidence-based pain management guidelines, providing education for staff and an organisation that includes pain responsibility nurses. METHODS: A cross-sectional study was carried out between 2009 and 2010 at two hospitals in southwest Sweden, comprising a baseline survey followed by an intervention. The study involved 306 patients, who answered questions about pain intensity at rest and while moving, disturbed sleep due to pain and whether they had used a pain rating scale while in hospital. Medical records were scrutinised for analgesic prescriptions. An intervention then took place, involving implementation of evidence-based guidelines, staff education and the introduction of pain responsibility nurses. A follow-up survey was carried out in 2012, in which 293 patients answered the same questions and their medical records were also reviewed. The baseline results were then compared with those of the follow-up survey. RESULTS: When compared with the baseline survey, the follow-up survey revealed significant differences in the use of validated pain rating instruments as well as the prescription of more appropriate analgesics. Prescription of paracetamol increased significantly in the follow-up survey; 56% of the patients were prescribed paracetamol on a regular basis, compared with 42% at baseline. There was also a significant increase in the use of strong opioids, from 38% at baseline to 55% at follow-up. Prescriptions of weak opioids decreased from 16% at baseline to 4% at follow-up. No significant differences were observed in patient pain levels in the follow-up survey. At baseline, 29% of the patients reported moderate to severe pain at rest (NRS 4-10) and at follow-up that figure was 24% (NRS 4-10). In both surveys, 41% reported moderate to severe pain (NRS 5-10) during movement. Thirty-nine percent reported disturbed sleep at night at both baseline and follow-up. CONCLUSIONS: This study demonstrates that evidence-based guidelines made accessible to all staff as a pocket size booklet and on the intranet, in combination with staff education, pain responsibility nurses who informed other staff on their own wards, improved the prescription of analgesics in the hospitals studied. In order to achieve a noticeable effect for patients, i.e., reduced pain levels, an intervention containing more components than those employed in the present study is required. IMPLICATIONS: Nurses and physicians need greater knowledge about the importance of pain rating. A vital part of pain management at hospitals is continuous evaluation of treatment outcomes to prevent severe pain and disturbed sleep. The complexity of pain and pain management requires commitment, time and knowledge on the part of healthcare staff. Multi-professional pain teams that support ward staff in pain management are necessary in order to reduce suffering and unnecessary pain in hospitalized patients.

Identification of a novel mutation in PEX10 in a patient with attenuated Zellweger spectrum disorder: a case report.

BACKGROUND: The peroxisome biogenesis disorders, which are caused by mutations in any of 13 different PEX genes, include the Zellweger spectrum disorders. Severe defects in one of these PEX genes result in the absence of functional peroxisomes which is seen in classical Zellweger syndrome. These patients present with hypotonia and seizures shortly after birth. Other typical symptoms are dysmorphic features, liver disease, retinal degeneration, sensorineural deafness, polycystic kidneys, and the patient does not reach any developmental milestones. CASE PRESENTATION: We report a case of a patient with Zellweger spectrum disorder due to a novel mutation in the PEX10 gene, presenting with a mild late-onset neurological phenotype. The patient, an Assyrian girl originating from Iraq, presented with sensorineural hearing impairment at the age of 5 followed by sensorimotor polyneuropathy, cognitive delay, impaired gross and fine motor skills, and tremor and muscle weakness in her teens. Analyses of biochemical markers for peroxisomal disease suggested a mild peroxisomal defect and functional studies in fibroblasts confirmed the existence of a peroxisome biogenesis disorder. Diagnosis was confirmed by next generation sequencing analysis, which showed a novel homozygous mutation (c.530 T > G (p.Leu177Arg) (NM_153818.1)) in the PEX10 gene predicted to be pathogenic. CONCLUSIONS: This case highlights the importance of performing biochemical, functional, and genetic peroxisomal screening in patients with clinical presentations milder than those usually observed in Zellweger spectrum disorders.

Women with Neck Pain on Long-Term Sick Leave-Approaches Used in the Return to Work Process: A Qualitative Study.

Purpose There are difficulties in the process of return to work (RTW) from long-term sick leave, both in general and regarding sick leave because of neck pain in particular. Neck pain is difficult to assess, problematic to rehabilitate, and hard to cure; and it is not always easy to decide whether the pain is work-related. The outcome of RTW could be dependent upon individuals' approaches, defensive or offensive behaviors, and choices related to their self-efficacy. The aim of this study was to identify approaches used in the RTW process among women with neck pain on long-term sick leave from human service organizations. Methods This is a qualitative descriptive study based on grounded theory. A Swedish cohort of 207 women with a history of long-term sick leave with neck pain from human service organizations answered open-ended written questions at 0, 6, and 12 months, and 6 years; and 16 women were interviewed. Results Individuals expressed their coping approaches in terms of fluctuating in work status over time: either as a strategy or as a consequence. Periods of sick leave were interwoven with periods of work. The women were either controlling the interaction or struggling in the interaction with stakeholders. Conclusions Return to work outcomes may be improved if the fluctuating work status over time is taken into account in the design of rehabilitation efforts for women with a history of long-term sick leave and with chronical musculoskeletal conditions.