Open Reading Frame brings together a selection of recent publication highlights from elsewhere in the open access ecosystem. This week we take a look at the past few weeks in medicine.


NOTCH signaling involved in childhood pulmonary arterial hypertension
New research suggests that novel gene mutations could be involved in the pathogenesis of childhood pulmonary arterial hypertension (PAH). Previously identified genetic changes are not present in 60-90 percent of idiopathic PAH cases; researchers have now identified two new point mutations in the NOTCH3 gene in patients with PAH. Expressing these genes in cell lines caused an increase in cell proliferation and viability. These findings require validation in a larger study but add to recent evidence implicating NOTCH signaling in the pathogenesis of PAH, and suggest that these mutations could, in part, contribute to the development of idiopathic PAH.
Chida et al. Molecular Genetics and Genomic Medicine


Drug repositioning: can CNS drugs be used to treat non-CNS disorders?
The number of new drugs being discovered has decreased in recent years, and innovative approaches to drug development are being explored to increase the number of options available. One such approach is drug repositioning; in a commentary article, Prashant Kharkar discusses how central nervous system (CNS) drugs could be used to treat non-CNS disorders, using the antidepressant fluoxetine as an example. Kharkar emphasizes that non-CNS drugs should not cross the blood-brain barrier, and highlights chemical modifications that can abolish drugs’ CNS penetration properties, in order to create compounds that can be screened for therapeutic efficacy against non-CNS disorders.
Kharkar. F1000 research


Elevated fracture risk in Parkinson’s disease
Parkinson’s disease (PD) – the second most common neurodegenerative disorder – affects around 1 percent of people aged over 60. Evidence suggests that PD patients are more likely to suffer falls and have low bone mineral density than those without PD, both of which are risk factors for fracture. A systematic review assessing the link between PD and fracture risk in the elderly, finds that PD is associated with a 2.66-fold increased risk for fracture. The authors conclude that this elevated risk could be due to the effect of PD on falls and bone mineral density, as well as vitamin deficiencies and hormone alterations, and these factors could act synergistically to contribute to elevated fracture risk in older patients with PD.
Tan et al. PLOS One


Depression and anxiety linked to COPD hospital admissions
Chronic obstructive pulmonary disease (COPD) exacerbations are the third most common cause of hospital admission in the UK. While lung damage is the main manifestation of COPD, there is increasing awareness of systemic inflammation and psychiatric comorbidities that have a long-term impact on life expectancy and quality of life in COPD patients. A systematic review has been carried out to investigate the relationship between psychiatric comorbidities and COPD hospitalization, finding that anxiety and depression are associated with significantly higher likelihood of hospital admission, and are linked to longer length of stay. Only 27-33 percent of those with depression were undergoing appropriate treatment, highlighting the need for better recognition and treatment of psychiatric comorbidities in COPD, which could help reduce hospitalization rates.
Pooler and Beech. International Journal of Chronic Obstructive Pulmonary Disease


Monitoring ovarian cancer prognosis
Ovarian cancer is associated with poor prognosis, with around 40 percent 5-year survival in Sweden, and the majority of patients being diagnosed too late for treatment to be effective. The development of early screening markers is therefore essential to detect ovarian cancer at the earliest possible stage and increase the chance of treatment success. Previous research has shown that Wilm’s tumor gene 1 (WT1) is overexpressed in ovarian cancer. Now, Swedish researchers have extended this work, showing that WT1-specific antibodies can be detected in the blood of ovarian cancer patients. Blood levels of WT1 correlated with progression-free survival (PFS), and positive expression of WT1 in tissue biopsies was indicative of reduced PFS and overall survival. These findings suggest that WT1 measured from blood samples could be used as a prognostic marker of ovarian cancer, and could allow earlier detection and monitoring.
Andersson et al. Cancer Medicine


Eating disorders overlooked in young men
New research suggests that many young men with eating disorders (EDs) do not seek help because EDs are perceived as a female problem. The questionnaire-based study, carried out in the UK, found that many young men do not recognize the symptoms of eating disorders – including anorexia nervosa and bulimia nervosa – and some expressed concern about the lack of gender-specific resources for men with EDs. The researchers conclude that healthcare workers must challenge misconceptions about EDs, and raising awareness about EDs in men should encourage those affected to seek help.
Räisänen et al. BMJ Open


Diabetic retinopathy: a predictor of further complications?
Retinopathy, kidney disease and cardiovascular disorders are established complications associated with type 2 diabetes, but little is known about whether diabetic retinopathy is predictive of other comorbidities. An observational analysis of the Trial to Reduce cardiovascular Events with Aranesp Therapy (TREAT) has revealed that patients with diabetic retinopathy have longer duration of diabetes and more microvascular complications than those without retinopathy, but after adjusting for confounders, retinopathy was not associated with end-stage renal disease, cardiovascular events or mortality. The authors conclude that although retinopathy is an important complication in type 2 diabetes, it does not provide independent prognostic information about cardiovascular and renal events.
Bello et al. BMJ Open Diabetes Research & Care


Written by Claire Barnard, Senior Editor for BMC Medicine.


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