Pain characteristics of older persons with medically unexplained symptoms, older persons with medically explained symptoms and older persons with depression

Objectives: The main objective of the current study is to compare chronic pain characteristics of older patients with Medically Unexplained Symptoms (MUS), to those of patients with Medically Explained Symptoms (MES), and to those of patients with Major Depressive Disorder (MDD). Method: By combining data from the OPUS and NESDO study, we compared pain characteristics of 102 older (&gt;60 years) MUS-patients to 145 older MES-patients and 275 older MDD-patients in a case-control study design. Group differences were analyzed using ANCOVA, adjusted for demographic and physical characteristics. Linear regression was applied to examine the association between pain characteristics and somatization (BSI-53 somatization scale) and health anxiety (Whitely Index). Results: Older MUS-patients have approximately two times more chance of having chronic pain when compared to older MES-patients (OR = 2.01; p = .013) but equal chances as opposed to MDD-patients. After adjustments, MUS-patients report higher pain intensity and disability scores and more pain locations when compared to MES-patients, but equal values as MDD-patients. Health anxiety and somatization levels were positively associated with the number of pain sites in MUS-patients, but not with pain severity or disability. Conclusion: Older MUS-patients did not differ from MDD-patients with respect to any of the chronic pain characteristics, but had more intense and disabling pain, and more pain locations when compared to older MES-patients.</p

Family caregivers’ perspectives on their interaction and relationship with people living with dementia in a nursing home:A qualitative study

BACKGROUND: Social interactions are important for people living with dementia in a nursing home. However, not much is known about interactions and relationships between residents and family caregivers and related experiences of family caregivers. We aim to advance the knowledge on how family caregivers interact with people living with dementia in a nursing home and how they maintain or redesign a meaningful connection. METHODS: Qualitative research using interviews with family caregivers (n = 31) to explore perspectives on their interaction and relationship with the person living with dementia. Interviews were held during the reopening of nursing homes after the first COVID-19 lockdown in the Netherlands. In this situation, family caregivers became more aware of their interaction and relationship with the resident, which provided a unique opportunity to reflect on this. The interviews explored the interaction and relationship in a broad sense, not specifically for the COVID-19 situation. Thematic analysis was performed to analyze the data. RESULTS: We were able to identify three key themes reflecting the experiences of family caregivers: (1) changes in the interaction and relationship, (2) strategies to promote connection, and (3) appreciation of the interaction and relationship. From the viewpoint of family caregivers, the interaction and relationship are important for both the resident living with dementia and for themselves, and family caregivers have different strategies for establishing a meaningful connection. Nevertheless, some appear to experience difficulties with constructing such a connection with the resident. CONCLUSIONS: Our results provide a basis for supporting family caregivers in perceiving and establishing mutuality and reciprocity so that they can experience togetherness. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s12877-022-02922-x

Explanations for medically unexplained symptoms:a qualitative study on GPs in daily practice consultations

BACKGROUND: General practice is the centre of care for patients with medically unexplained symptoms (MUS). Providing explanations for MUS, i.e. making sense of symptoms, is considered to be an important part of care for MUS patients. However, little is known how general practitioners (GPs) do this in daily practice. OBJECTIVE: This study aimed to explore how GPs explain MUS to their patients during daily general practice consultations. METHODS: A thematic content analysis was performed of how GPs explained MUS to their patients based on 39 general practice consultations involving patients with MUS. RESULTS: GP provided explanations in nearly all consultations with MUS patients. Seven categories of explanation components emerged from the data: defining symptoms, stating causality, mentioning contributing factors, describing mechanisms, excluding explanations, discussing the severity of symptoms and normalizing symptoms. No pattern of how GPs constructed explanations with the various categories was observed. In general, explanations were communicated as a possibility and in a patient-specific way; however, they were not very detailed. CONCLUSION: Although explanations for MUS are provided in most MUS consultations, there seems room for improving the explanations given in these consultations. Further studies on the effectiveness of explanations and on the interaction between patients and GP in constructing these explanations are required in order to make MUS explanations more suitable in daily primary care practice

“Medically unexplained” symptoms and symptom disorders in primary care: prognosis-based recognition and classification

Background: Many patients consult their GP because they experience bodily symptoms. In a substantial proportion of cases, the clinical picture does not meet the existing diagnostic criteria for diseases or disorders. This may be because symptoms are recent and evolving or because symptoms are persistent but, either by their character or the negative results of clinical investigation cannot be attributed to disease: so-called “medically unexplained symptoms” (MUS). MUS are inconsistently recognised, diagnosed and managed in primary care. The specialist classification systems for MUS pose several problems in a primary care setting. The systems generally require great certainty about presence or absence of physical disease, they tend to be mind-body dualistic, and they view symptoms from a narrow specialty determined perspective. We need a new classification of MUS in primary care; a classification that better supports clinical decision-making, creates clearer communication and provides scientific underpinning of research to ensure effective interventions. Discussion: We propose a classification of symptoms that places greater emphasis on prognostic factors. Prognosis-based classification aims to categorise the patient’s risk of ongoing symptoms, complications, increased healthcare use or disability because of the symptoms. Current evidence suggests several factors which may be used: symptom characteristics such as: number, multi-system pattern, frequency, severity. Other factors are: concurrent mental disorders, psychological features and demographic data. We discuss how these characteristics may be used to classify symptoms into three groups: self-limiting symptoms, recurrent and persistent symptoms, and symptom disorders. The middle group is especially relevant in primary care; as these patients generally have reduced quality of life but often go unrecognised and are at risk of iatrogenic harm. The presented characteristics do not contain immediately obvious cut-points, and the assessment of prognosis depends on a combination of several factors. Conclusion: Three criteria (multiple symptoms, multiple systems, multiple times) may support the classification into good, intermediate and poor prognosis when dealing with symptoms in primary care. The proposed new classification specifically targets the patient population in primary care and may provide a rational framework for decision-making in clinical practice and for epidemiologic and clinical research of symptoms

Correction:How the COVID-19 pandemic highlights the necessity of animal research (vol 30, pg R1014, 2020)

(Current Biology 30, R1014–R1018; September 21, 2020) As a result of an author oversight in the originally published version of this article, a number of errors were introduced in the author list and affiliations. First, the middle initials were omitted from the names of several authors. Second, the surname of Dr. van Dam was mistakenly written as “Dam.” Third, the first name of author Bernhard Englitz was misspelled as “Bernard” and the surname of author B.J.A. Pollux was misspelled as “Pullox.” Finally, Dr. Keijer's first name was abbreviated rather than written in full. These errors, as well as various errors in the author affiliations, have now been corrected online

GA4GH: International policies and standards for data sharing across genomic research and healthcare.

The Global Alliance for Genomics and Health (GA4GH) aims to accelerate biomedical advances by enabling the responsible sharing of clinical and genomic data through both harmonized data aggregation and federated approaches. The decreasing cost of genomic sequencing (along with other genome-wide molecular assays) and increasing evidence of its clinical utility will soon drive the generation of sequence data from tens of millions of humans, with increasing levels of diversity. In this perspective, we present the GA4GH strategies for addressing the major challenges of this data revolution. We describe the GA4GH organization, which is fueled by the development efforts of eight Work Streams and informed by the needs of 24 Driver Projects and other key stakeholders. We present the GA4GH suite of secure, interoperable technical standards and policy frameworks and review the current status of standards, their relevance to key domains of research and clinical care, and future plans of GA4GH. Broad international participation in building, adopting, and deploying GA4GH standards and frameworks will catalyze an unprecedented effort in data sharing that will be critical to advancing genomic medicine and ensuring that all populations can access its benefits

Identification of a BRCA2-Specific modifier locus at 6p24 related to breast cancer risk

Common genetic variants contribute to the observed variation in breast cancer risk for BRCA2 mutation carriers; those known to date have all been found through population-based genome-wide association studies (GWAS). To comprehensively identify breast cancer risk modifying loci for BRCA2 mutation carriers, we conducted a deep replication of an ongoing GWAS discovery study. Using the ranked P-values of the breast cancer associations with the imputed genotype of 1.4 M SNPs, 19,029 SNPs were selected and designed for inclusion on a custom Illumina array that included a total of 211,155 SNPs as part of a multi-consortial project. DNA samples from 3,881 breast cancer affected and 4,330 unaffected BRCA2 mutation carriers from 47 studies belonging to the Consortium of Investigators of Modifiers of BRCA1/2 were genotyped and available for analysis. We replicated previously reported breast cancer susceptibility alleles in these BRCA2 mutation carriers and for several regions (including FGFR2, MAP3K1, CDKN2A/B, and PTHLH) identified SNPs that have stronger evidence of association than those previously published. We also identified a novel susceptibility allele at 6p24 that was inversely associated with risk in BRCA2 mutation carriers (rs9348512; per allele HR = 0.85, 95% CI 0.80-0.90, P = 3.9×10−8). This SNP was not associated with breast cancer risk either in the general population or in BRCA1 mutation carriers. The locus lies within a region containing TFAP2A, which encodes a transcriptional activation protein that interacts with several tumor suppressor genes. This report identifies the first breast cancer risk locus specific to a BRCA2 mutation background. This comprehensive update of novel and previously reported breast cancer susceptibility loci contributes to the establishment of a panel of SNPs that modify breast cancer risk in BRCA2 mutation carriers. This panel may have clinical utility for women with BRCA2 mutations weighing options for medical prevention of breast cancer

Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk

BRCA1-associated breast and ovarian cancer risks can be modified by common genetic variants. To identify further cancer risk-modifying loci, we performed a multi-stage GWAS of 11,705 BRCA1 carriers (of whom 5,920 were diagnosed with breast and 1,839 were diagnosed with ovarian cancer), with a further replication in an additional sample of 2,646 BRCA1 carriers. We identified a novel breast cancer risk modifier locus at 1q32 for BRCA1 carriers (rs2290854, P = 2.7×10-8, HR = 1.14, 95% CI: 1.09-1.20). In addition, we identified two novel ovarian cancer risk modifier loci: 17q21.31 (rs17631303, P = 1.4×10-8, HR = 1.27, 95% CI: 1.17-1.38) and 4q32.3 (rs4691139, P = 3.4×10-8, HR = 1.20, 95% CI: 1.17-1.38). The 4q32.3 locus was not associated with ovarian cancer risk in the general population or BRCA2 carriers, suggesting a BRCA1-specific associat