A novel mutation in NCF1 in an adult CGD patient with a liver abscess as first presentation

Chronic granulomatous disease (CGD) is an immunodeficiency caused by defects in the nicotinamide adenine dinucleotide phosphate (NADPH)-oxidase complex and is usually diagnosed in early childhood. CGD patients suffer from severe, recurrent infections with bacteria, fungi and yeasts. We report a 25-year-old female with protracted fever because of a Staphylococcus aureus liver abscess, which did not resolve until breakthrough into the stomach. Despite her age, CGD was considered on diagnosis on the basis of the clinical symptoms. Analysis of the NADPH-oxidase activity confirmed CGD as the underlying condition. Western blotting revealed the absence of p47(phox) and subsequent sequencing of the p47(phox)-encoding gene, neutrophil cytosolic factor (NCF1), identified a deletion of 837C in the maternal NCF1 allele. The paternal allele contained a stopcodon because of a conversion between NCF1 and one of its Psi NCF1 pseudogenes. The patient had one novel mutation, c.837delC, and one conversion in NCF1, resulting in the complete absence of the p47(phox) component of the NADPH-oxidase complex. This p47(phox)-deficient CGD patient had the highest age at diagnosis reported thus far. Journal of Human Genetics (2009) 54, 313-316; doi:10.1038/jhg.2009.24; published online 27 March 200

The effect of exercise therapy combined with psychological therapy on physical activity and quality of life in patients with painful diabetic neuropathy: a systematic review

Background and aims: Approximately 25% of patients with diabetes mellitus type 2 (DMII) develop painful diabetic neuropathy (PDN). PDN is known to affect both mental and physical wellbeing, resulting in anxiety, depression, low quality of life and physical disability. Pharmacological treatment of PDN aims at pain relief and is often ineffective and/or has many side effects. Rehabilitation treatment modalities that are designed to help the patient deal with PDN related complaints, are mostly focussed on either physical (e.g. exercise therapy) or psychological aspects (e.g. cognitive behavioural therapy, CBT). There is emerging evidence that PDN can be approached from a biopsychosocial perspective, in which physical and psychosocial aspects are integrated. From this biopsychosocial approach it is plausible that integrated treatment modalities such as acceptance commitment therapy (ACT) or exposure in vivo (EXP) could be effective in patients with PDN. The objective of this review was to provide an overview of the current evidence on the effects of rehabilitation treatments that combine exercise therapies with psychological therapies in order to improve physical activity (PA) and quality of life (QoL) in patients with PDN.Methods: Systematic review of the current literature. EMBASE, MEDLINE, Medline In-Process citations and e-Pubs ahead-of-print, Pedro, Web of Science, PsycINFO, CENTRAL, PubMed and Google Scholar were searched. All studies on interventions combining exercise therapy with psychological interventions in patients with PDN, aged &gt;18 years, were included. Outcome measures were PA, QoL.Results: The search resulted in 1603 records after removing duplicates. After screening on titles and abstracts, 100 records remained. From these, not one study reported on interventions that combined exercise therapy with psychological interventions. Through a secondary hand search, a total of three reviews were identified that described a total of five studies regarding either physical or psychological interventions in patients with PDN. These studies reported moderate effects of (1) mindfulness meditation on QoL, (2) CBT on pain severity, (3) mindfulness-based stress reduction intervention on function, health-related QoL, pain catastrophizing and depression, (4) aerobic exercise on QoL and (5) Tai Chi on glucose control, balance, neuropathic symptoms, and some dimensions of QoL in patients with PDN. All studies were of a moderate quality, and results should be interpreted with caution.Conclusions: Based on increasing knowledge in the domain of chronic pain, it could be assumed that integrated rehabilitation treatments for patients with PUN are beneficial. There is no literature to support this and more research should be done on integrated biopsychosocial interventions in patients with PDN.</p

Randomized, clinical trial comparison of trisodium citrate 30% and heparin as catheter-locking solution in hemodialysis patients

Interdialytic hemodialysis catheter-locking solutions could contribute to a reduction of catheter-related complications, especially infections. However, they can cause side effects because of leakage from the tip of the catheter. Recently, trisodium citrate (TSC) has been advocated because of its antimicrobial properties and local anticoagulation. In a multicenter, double-blind, randomized, controlled trial, TSC 30% was compared with unfractionated heparin 5000 U/ml for prevention of catheter-related infections, thrombosis, and bleeding complications. The study was stopped prematurely because of a difference in catheter-related bacteremia (CRB; P < 0.01). Of 363 eligible patients, 291 could be randomized. The study included 98 tunneled cuffed catheters and 193 untunneled. There were no significant differences in patient and catheter characteristics on inclusion. In the heparin group, 46% of catheters had to be removed because of any complication compared with 28% in the TSC group (P = 0.005). CRB rates were 1.1 per 1000 catheter-days for TSC versus 4.1 in the heparin group (P < 0.001). For tunneled cuffed catheters, the risk reduction for CRB was 87% (P < 0.001) and for untunneled catheters was 64% (P = 0.05). Fewer patients died from CRB in the TSC group (0 versus 5; P = 0.028). There were no differences in catheter flow problems and thrombosis (P = 0.75). No serious adverse events were encountered. Major bleeding episodes were significantly lower in the TSC group (P = 0.010). TSC 30% improves overall patency rates and reduces catheter-related infections and major bleeding episodes for both tunneled and untunneled hemodialysis catheters. Flow problems are not reduced