From the Journal of Translational Medicine, 5 January 2016 (full text available).
Mitochondrial DNA variants correlate with symptoms in myalgic encephalomyelitis/chronic fatigue syndrome
Paul Billing-Ross (1,†), Arnaud Germain(2,†), Kaixiong Ye(3), Alon Keinan(3), Zhenglong Gu (1) and Maureen R. Hanson (2)
†Contributed equally
1) Division of Nutritional Sciences, Cornell University
2) Department of Molecular Biology and Genetics, Cornell University
3) Department of Biological Statistics and Computational Biology, Cornell University
Abstract
BACKGROUND
Mitochondrial dysfunction has been hypothesized to occur in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS), a disease characterized by fatigue, cognitive difficulties, pain, malaise, and exercise intolerance. We investigated whether haplogroup, single nucleotide polymorphisms (SNPs), or heteroplasmy of mitochondrial DNA (mtDNA) were associated with health status and/or symptoms.
METHODS
Illumina sequencing of PCR-amplified mtDNA was performed to analyze sequence and extent of heteroplasmy of mtDNAs of 193 cases and 196 age- and gender-matched controls from DNA samples collected by the Chronic Fatigue Initiative. Association testing was carried out to examine possible correlations of mitochondrial sequences with case/control status and symptom constellation and severity as reported by subjects on Short Form-36 and DePaul Symptom Questionnaires.
RESULTS
No ME/CFS subject exhibited known disease-causing mtDNA mutations. Extent of heteroplasmy was low in all subjects. Although no association between mtDNA SNPs and ME/CFS vs. healthy status was observed, haplogroups J, U and H as well as eight SNPs in ME/CFS cases were significantly associated with individual symptoms, symptom clusters, or symptom severity.
CONCLUSIONS
Analysis of mitochondrial genomes in ME/CFS cases indicates that individuals of a certain haplogroup or carrying specific SNPs are more likely to exhibit certain neurological, inflammatory, and/or gastrointestinal symptoms. No increase in susceptibility to ME/CFS of individuals carrying particular mitochondrial genomes or SNPs was observed.
From BMJ Open, 1 December 2015 (full text available)
Junior doctors’ experiences of managing patients with medically unexplained symptoms: a qualitative study
Katherine Yon(1), Sarah Nettleton(2), Kate Walters(1), Kethakie Lamahewa(1), Marta Buszewicz(1)
1) Research Department of Primary Care & Population Health, UCL, London, UK
2) Department of Sociology, University of York, York, UK
Abstract
OBJECTIVES
To explore junior doctors’ knowledge about and experiences of managing patients with medically unexplained symptoms (MUS) and to seek their recommendations for improved future training on this important topic about which they currently receive little education.
DESIGN
Qualitative study using in-depth interviews analysed using the framework method.
SETTING
Participants were recruited from three North Thames London hospitals within the UK.
PARTICIPANTS
Twenty-two junior doctors undertaking the UK foundation two-year training programme (FY1/FY2).
RESULTS
The junior doctors interviewed identified a significant gap in their training on the topic of MUS, particularly in relation to their awareness of the topic, the appropriate level of investigations, possible psychological comorbidities, the formulation of suitable explanations for patients’ symptoms and longer term management strategies.
Many junior doctors expressed feelings of anxiety, frustration and a self-perceived lack of competency in this area, and spoke of over-investigating patients or avoiding patient contact altogether due to the challenging nature of MUS and a difficulty in managing the accompanying uncertainty. They also identified the negative attitudes of some senior clinicians and potential role models towards patients with MUS as a factor contributing to their own attitudes and management choices.
Most reported a need for more training during the foundation years, and recommended interactive case-based group discussions with a focus on providing meaningful explanations to patients for their symptoms.
CONCLUSIONS
There is an urgent need to improve postgraduate training about the topics of MUS and avoiding over-investigation, as current training does not equip junior doctors with the necessary knowledge and skills to effectively and confidently manage patients in these areas.
Training needs to focus on practical skill development to increase clinical knowledge in areas such as delivering suitable explanations, and to incorporate individual management strategies to help junior doctors tolerate the uncertainty associated with MUS.
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Strengths and limitations of this study
This is the first known study to explore newly-qualified doctors’ experiences of managing patients with medically unexplained symptoms (MUS) and to identify postgraduate training needs in this area.
Our study highlights an important gap in junior doctors’ knowledge about MUS and emphasises the importance of educating doctors at an early and clinically-relevant stage of their career.
Junior doctors were forthcoming when discussing negative viewpoints towards patients with unexplained symptoms and the challenges and difficulties they have faced.
We obtained a range of views by ensuring maximum diversity according to gender, age, ethnicity and training level.
Participants were recruited from the North Thames London region, and the views expressed may not be representative of other newly-qualified doctors within the UK or elsewhere.
From Sciforschen Clinical Research, 12 January 2016 open access).
Educational Priorities for Healthcare Providers and Name Suggestions for Chronic Fatigue Syndrome: Including the Patient Voice
Laura Nicholson*, Abigail Brown, Leonard A Jason, Diana Ohanian, and Kelly O’Connor
Center for Community Research, DePaul University, Chicago, USA
Abstract
Surveys over the past two decades found that patients, advocates, and researchers want the name chronic fatigue syndrome (CFS) to be changed because this label minimizes the severity of the illness (Taylor, Friedberg, & Jason, 2001). The present study sought to qualitatively investigate patient views on the illness label CFS and healthcare providers’ knowledge of CFS. A patient-research organization asked members two open-ended questions regarding preferences for specific illness labels and educational suggestions for healthcare providers.
Responses to both questions were coded thematically by multiple, trained research assistants. Findings suggested that 96% of participants disliked/strongly disliked CFS. Myalgic encephalomyelitis (ME) was the majority’s first preference (55%) and was chosen four times more than any other name given.
Four themes emerged for educational concerns: attitudes of healthcare providers, symptomatology, research, and implications of inadequate education. The most frequent subtheme (37%) was patients wanting healthcare providers to acknowledge that this is a real/serious illness.
Diagnostic labels can influence providers’ perceptions of diseases and affect quality of care and communication between providers and patients. Therefore patients should be stakeholders in the process of name change. Understanding patient perspectives on educational priorities and illness labels will facilitate improved communication between providers and patients.