Autosomal disorders of mitochondrial DNA maintenance

Mitochondrial DNA (mtDNA) is maternally inherited. After birth, secondary mtDNA defects can arise. MtDNA depletion is a reduction in the amount of mtDNA in particular tissues. Multiple deletions of mtDNA accumulate as somatic mutations in mainly postmitotic tissues. These disorders of mtDNA maintenance frequently show Mendelian inheritance. Positional cloning has identified several genes involved in the control of mtDNA stability. Recessive mutations in the genes ECGF1, dGK, TK2, SUCLA2 and POLG cause mtDNA depletion syndromes (MDS). Generally, MDS has infantile onset tissue specific features. Mutations in the genes ECGF1, ANT1, C10orf2 and POLG are associated with multiple mtDNA deletions. The nature of these mutations is dominant in ANT1, C10orf2 and POLG and recessive in ECGF1, C10orf2 and POLG. Mutations in these genes frequently cause progressive external ophthalmoplegia (PEO). However clinical heterogeneity results in different neurological syndromes with considerable overlap. The most common features are PEO, neuropathy, myopathy, ataxia, epilepsy and hepatopathy.     

The ParkinsonNet trial: Design and baseline characteristics

The companion paper describes how implementation of professional networks (ParkinsonNet) may improve the quality and efficiency of allied health care in Parkinson's disease (PD). We designed a cluster‐randomized controlled trial to evaluate this ParkinsonNet concept for one allied health discipline, namely physical therapy. Here we describe the study design and baseline characteristics. The design fully complies with the CONSORT criteria. Sixteen regions in the Netherlands were randomly divided into eight experimental regions where a ParkinsonNet was implemented, and eight control regions where the organization of care was left unchanged (usual care). Participating patients were followed for 6 months to evaluate the implementation process, health benefits and costs of the intervention. In the ParkinsonNet regions, 46 therapists were trained and 358 patients were included. In the usual care regions, 341 patients were included. Baseline characteristics of participants in the ParkinsonNet and control clusters were comparable. With 699 participating patients, this is the largest allied health study in PD to date. © 2010 Movement Disorder Society     

Pathway for inpatients with depressive episode in Flemish psychiatric hospitals: a qualitative study

Background

While the mental health situation for most people in low and middle-income countries is unsatisfactory, there is a renewed commitment to focus attention on the mental health of populations and on the scaling up of mental health services that have the capacity to respond to mental health service needs. There is general agreement that scaling up activities must be evidence-based and that the effectiveness of such activities must be evaluated. If these requirements are to be realised it will be essential to strengthen capacity in countries to conduct rigorous monitoring and evaluation of system development projects and to demonstrate sustained benefit to populations.

The Observatory

The International Observatory on Mental Health Systems (IOMHS) will build capacity to measure and to track mental health system performance in participating countries at national and sub-national (provincial and district) levels. The work of IOMHS will depend on the establishment of robust partnerships among the key stakeholder groups. The Observatory will build the capability of partner organisations and networks to provide evidence-based advice to policy makers, service planners and implementers, and will monitor the progress of mental health service scaling up activities.

Summary

The International Observatory on Mental Health Systems will be a mental health research and development network that will monitor and evaluate mental health system performance in low and middle-income countries.     

Early associations with palatable foods in overweight and obesity are not disinhibition related but restraint related

Obese people prefer and overconsume high-fat foods. At the same time they often attempt to lose weight. In two studies we investigated relations between palatable high-fat food words and disinhibition related concepts (study 1) and palatable high-fat food words and restraint related concepts (study 2) within the semantic priming paradigm. In study 1, 24 overweight/obese and 19 healthy weight women participated. There was no association between palatable high-fat food words and disinhibition. In study 2, 27 obese and 29 healthy weight women participated. The presentation of palatable high-fat food words facilitated the accessibility of restraint related concepts as hypothesized, but independent of weight status. Clearly, early associations with palatable high-fat food words are restraint related in both healthy weight and obese people.     

Custom made Ilizarov ring fixator for fracture care in morbidly obese patients

Background  Fracture care in obese patients is becoming an everyday problem because the prevalence of obesity in European countries has tripled since the last 20 years. Patients and method  With the use of a custom made Ilizarov ring fixator with a ring diameter of 300 to 340 mm, fracture stabilization in three morbidly obese patients was performed. The patients’ body mass index (BMI) ranged from 59 to 89. There were one proximal tibia fracture and two pilon fractures. The tibia fracture was stabilized with a 340-mm frame and the pilon fractures were stabilized by primary ankle arthrodesis with 300-mm frames. Primary ankle arthrodesis was performed because polyneuropathy and Charcot arthropathy were present in one patient and in the other patient because time from injury to referral was too long for reconstruction. Results  All patients were able to fully weight bear. Frame removal after fracture correction and consolidation was performed only in the patient with the tibial fracture (patient BMI 89). The other patients died during the treatment because of decompensated comorbidities. Conclusion  The Ilizarov technique is a good fixation modality for stabilizing fractures of the lower limb in morbidly obese patients. Associated medical comorbidities are the limitations of successful fracture care. Financial Disclaimer: The authors have received nothing of value.     

Adenoviral activin A expression prevents vein graft intimal hyperplasia in a rat model

Autologus vein grafts are used for coronary artery and infra-inguinal bypass procedures. Although initially successful, long-term patency rates are limited by lumen occlusion due to neointima formation by smooth muscle cell hyperplasia. Gene therapy to prevent this smooth muscle cell proliferation has been studied extensively with limited success. Activin A, a member of the transforming growth factor-beta super family, promotes the contractile phenotype of smooth muscle cells. Maintaining the contractile phenotype could be a novel strategy to prevent intimal hyperplasia. In an epigastric vein-to-common femoral artery interposition grafts rat model, activin A over-expression resulted in a significant decrease in intimal cross-sectional area and percentage stenosis as compared to the control group. BrdU staining identified lower proliferation rates of the smooth muscle cells in the group treated with activin A. We report for the first time evidence that activin A can diminish vein graft failure in a rat model supporting a novel strategy to prevent intimal hyperplasia.