Mindfulness training for chronic fatigue syndrome: a pilot study

Source at: http://doi.org//10.5114/hpr.2017.65469 Background: Chronic fatigue syndrome (CFS) is a condition characterized by persistent and unexplained fatigue that may result in severe impairment of daily functioning. Currently, there is no curative treatment for CFS, and many patients experience the existing interventions as ineffective. Thus, there is a need for new approaches that target psychological maintenance factors and coping. Mindfulness is an approach to increasing awareness and acceptance of ongoing mental processes. Mindfulness-based interventions have been shown to reduce stress and enhance quality of life in patients with chronic diseases, to increase the tolerance of unpleasant feelings and bodily dysfunction, as well as to facilitate use of appropriate coping skills. This pilot study examined the effect and acceptability of a mindfulness-based intervention for patients with CFS. Participants and procedure: Ten patients with CFS (eight women, two men) participated in the study. The mindfulness training had a duration of eight weeks with 2-hour weekly meetings. The effect of the intervention was evaluated using a single case series design with a 3-month follow-up. Results: All patients completed the intervention. Medium to large effect sizes were found for anxiety, fatigue, rumination, depression, and mindfulness. The participants’ feedback indicated increased quality of life and more adaptive coping. Conclusions: It is concluded that mindfulness-based interventions have a potential to improve the condition of patients with CFS

The prevalence of potentially traumatic events in the seventh survey of the population-based Tromsø study (Tromsø 7)

Aims: Potentially traumatic events (PTEs) can have detrimental consequences for an individual’s physical and mental health. Exposure to PTEs is therefore increasingly assessed in population-based studies. Consistent with this trend, the most recent wave of the longitudinal population-based Tromsø study (Tromsø 7) in Northern Norway included a list of PTEs. The aim of the present study was to describe the prevalence of PTEs in the sample and examine demographic correlates of reported PTE exposure in this group. Methods: In Tromsø 7, a total of 21,083 participants aged ⩾40 years (52.5% female, mean age 57.3 years) were asked about exposure to nine PTEs that occurred in childhood, in adulthood and in the previous year. Differences between demographic groups in exposure to PTEs were examined using chi-square tests and logistic regression analyses. Results: Overall, 67% of the participants reported at least one PTE across the three time intervals. A life-threatening illness or serious accident of a loved one (36.8%) or of the respondent (24.0%) and bullying (21.5%) were the most frequently reported PTEs. Female sex, younger age, indigenous or immigrant ethnicity and higher education were associated with an increased likelihood of reporting at least one PTE. Group differences with respect to specific PTEs were observed. Conclusions: The experience of PTEs is common among the participants in the Tromsø 7 study. The current study lays the foundation for further research into the associations between PTEs and physical and mental health within the Tromsø study

Cardiometabolic risk factor clustering in patients with deficient branched‐chain amino acid catabolism: A case‐control study

AbstractClassical organic acidemias (OAs) result from defective mitochondrial catabolism of branched‐chain amino acids (BCAAs). Abnormal mitochondrial function relates to oxidative stress, ectopic lipids and insulin resistance (IR). We investigated whether genetically impaired function of mitochondrial BCAA catabolism associates with cardiometabolic risk factors, altered liver and muscle energy metabolism, and IR. In this case‐control study, 31 children and young adults with propionic acidemia (PA), methylmalonic acidemia (MMA) or isovaleric acidemia (IVA) were compared with 30 healthy young humans using comprehensive metabolic phenotyping including in vivo 31P/1H magnetic resonance spectroscopy of liver and skeletal muscle. Among all OAs, patients with PA exhibited abdominal adiposity, IR, fasting hyperglycaemia and hypertriglyceridemia as well as increased liver fat accumulation, despite dietary energy intake within recommendations for age and sex. In contrast, patients with MMA more frequently featured higher energy intake than recommended and had a different phenotype including hepatomegaly and mildly lower skeletal muscle ATP content. In skeletal muscle of patients with PA, slightly lower inorganic phosphate levels were found. However, hepatic ATP and inorganic phosphate concentrations were not different between all OA patients and controls. In patients with IVA, no abnormalities were detected. Impaired BCAA catabolism in PA, but not in MMA or IVA, was associated with a previously unrecognised, metabolic syndrome‐like phenotype with abdominal adiposity potentially resulting from ectopic lipid storage. These findings suggest the need for early cardiometabolic risk factor screening in PA

Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision

Glutaric aciduria type 1 is a rare inherited neurometabolic disorder of lysine metabolism caused by pathogenic gene variations in GCDH (cytogenic location: 19p13.13), resulting in deficiency of mitochondrial glutaryl-CoA dehydrogenase (GCDH) and, consequently, accumulation of glutaric acid, 3-hydroxyglutaric acid, glutaconic acid and glutarylcarnitine detectable by gas chromatography/mass spectrometry (organic acids) and tandem mass spectrometry (acylcarnitines). Depending on residual GCDH activity, biochemical high and low excreting phenotypes have been defined. Most untreated individuals present with acute onset of striatal damage before age 3 (to 6) years, precipitated by infectious diseases, fever or surgery, resulting in irreversible, mostly dystonic movement disorder with limited life expectancy. In some patients, striatal damage develops insidiously. In recent years, the clinical phenotype has been extended by the finding of extrastriatal abnormalities and cognitive dysfunction, preferably in the high excreter group, as well as chronic kidney failure. Newborn screening is the prerequisite for pre-symptomatic start of metabolic treatment with low lysine diet, carnitine supplementation and intensified emergency treatment during catabolic episodes, which, in combination, have substantially improved neurologic outcome. In contrast, start of treatment after onset of symptoms cannot reverse existing motor dysfunction caused by striatal damage. Dietary treatment can be relaxed after the vulnerable period for striatal damage, that is, age 6 years. However, impact of dietary relaxation on long-term outcomes is still unclear. This third revision of evidence-based recommendations aims to re-evaluate previous recommendations (Boy et al., J Inherit Metab Dis, 2017;40(1):75-101; Kolker et al., J Inherit Metab Dis 2011;34(3):677-694; Kolker et al., J Inherit Metab Dis, 2007;30(1):5-22) and to implement new research findings on the evolving phenotypic diversity as well as the impact of non-interventional variables and treatment quality on clinical outcomes

Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study

Background The development and approval of disease modifying treatments have dramatically changed disease progression in patients with spinal muscular atrophy (SMA). Nusinersen was approved in Europe in 2017 for the treatment of SMA patients irrespective of age and disease severity. Most data on therapeutic efficacy are available for the infantile-onset SMA. For patients with SMA type 2 and type 3, there is still a lack of sufficient evidence and long-term experience for nusinersen treatment. Here, we report data from the SMArtCARE registry of non-ambulant children with SMA type 2 and typen 3 under nusinersen treatment with a follow-up period of up to 38 months. Methods SMArtCARE is a disease-specific registry with data on patients with SMA irrespective of age, treatment regime or disease severity. Data are collected during routine patient visits as real-world outcome data. This analysis included all non-ambulant patients with SMA type 2 or 3 below 18 years of age before initiation of treatment. Primary outcomes were changes in motor function evaluated with the Hammersmith Functional Motor Scale Expanded (HFMSE) and the Revised Upper Limb Module (RULM). Results Data from 256 non-ambulant, pediatric patients with SMA were included in the data analysis. Improvements in motor function were more prominent in upper limb: 32.4% of patients experienced clinically meaningful improvements in RULM and 24.6% in HFMSE. 8.6% of patients gained a new motor milestone, whereas no motor milestones were lost. Only 4.3% of patients showed a clinically meaningful worsening in HFMSE and 1.2% in RULM score. Conclusion Our results demonstrate clinically meaningful improvements or stabilization of disease progression in non-ambulant, pediatric patients with SMA under nusinersen treatment. Changes were most evident in upper limb function and were observed continuously over the follow-up period. Our data confirm clinical trial data, while providing longer follow-up, an increased number of treated patients, and a wider range of age and disease severity

Hepatorenal Tyrosinaemia: Impact of a Simplified Diet on Metabolic Control and Clinical Outcome

Background: Tyrosinaemia type 1 is a rare inherited metabolic disease caused by an enzyme defect in the tyrosine degradation pathway. It is treated using nitisinone and a low-protein diet. In a workshop in 2013, a group of nutritional specialists from Germany, Switzerland and Austria agreed to advocate a simplified low-protein diet and to allow more natural protein intake in patients with tyrosinaemia type 1. This retrospective study evaluates the recommendations made at different treatment centers and their impact on clinical symptoms and metabolic control. Methods: For this multicenter study, questionnaires were sent to nine participating treatment centers to collect data on the general therapeutic approach and data of 47 individual patients treated by those centers. Results: Dietary simplification allocating food to 3 categories led to increased tyrosine and phenylalanine blood concentrations without weighing food. Phenylalanine levels were significantly higher in comparison to a strict dietary regimen whereas tyrosine levels in plasma did not change. Non-inferiority was shown for the simplification and liberalization of the diet. Compliance with dietary recommendations was higher using the simplified diet in comparison to the stricter approach. Age correlates negatively with compliance. Conclusions: Simplification of the diet with increased natural protein intake based on three categories of food may be implemented in the diet of patients with tyrosinaemia type 1 without significantly altering metabolic control. Patient compliance is strongly influencing tyrosine blood concentrations. A subsequent prospective study with a larger sample size is necessary to get a better insight into the effect of dietary recommendations on metabolic control

Mindfulness training for chronic fatigue syndrome: a pilot study

Background Chronic fatigue syndrome (CFS) is a condition characterized by persistent and unexplained fatigue that may result in severe impairment of daily functioning. Currently, there is no curative treatment for CFS, and many patients experience the existing interventions as ineffective. Thus, there is a need for new approaches that target psychological maintenance factors and coping. Mindfulness is an approach to increasing awareness and acceptance of ongoing mental processes. Mindfulness-based interventions have been shown to reduce stress and enhance quality of life in patients with chronic diseases, to increase the tolerance of unpleasant feelings and bodily dysfunction, as well as to facilitate use of appropriate coping skills. This pilot study examined the effect and acceptability of a mindfulness-based intervention for patients with CFS. Participants and procedure Ten patients with CFS (eight women, two men) participated in the study. The mindfulness training had a duration of eight weeks with 2-hour weekly meetings. The effect of the intervention was evaluated using a single case series design with a 3-month follow-up. Results All patients completed the intervention. Medium to large effect sizes were found for anxiety, fatigue, rumination, depression, and mindfulness. The participants’ feedback indicated increased quality of life and more adaptive coping. Conclusions It is concluded that mindfulness-based interventions have a potential to improve the condition of patients with CFS

The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study

The aim of the study was a systematic evaluation of cognitive development in individuals with glutaric aciduria type 1 (GA1), a rare neurometabolic disorder, identified by newborn screening in Germany. This national, prospective, observational, multi-centre study includes 107 individuals with confirmed GA1 identified by newborn screening between 1999 and 2020 in Germany. Clinical status, development, and IQ were assessed using standardized tests. Impact of interventional and non-interventional parameters on cognitive outcome was evaluated. The majority of tested individuals (n = 72) showed stable IQ values with age (n = 56 with IQ test; median test age 11 years) but a significantly lower performance (median [IQR] IQ 87 [78–98]) than in general population, particularly in individuals with a biochemical high excreter phenotype (84 [75–96]) compared to the low excreter group (98 [92–105]; p = 0.0164). For all patients, IQ results were homogenous on subscale levels. Sex, clinical motor phenotype and quality of metabolic treatment had no impact on cognitive functions. Long-term neurologic outcome in GA1 involves both motor and cognitive functions. The biochemical high excreter phenotype is the major risk factor for cognitive impairment while cognitive functions do not appear to be impacted by current therapy and striatal damage. These findings implicate the necessity of new treatment concepts