"MY PKU": increasing self-management in patients with phenylketonuria. A randomized controlled trial

<p>Abstract</p> <p>Background</p> <p>Phenylketonuria (PKU) is an autosomal recessive disorder of phenylalanine metabolism. The inability to convert phenylalanine (Phe) into tyrosine causes Phe to accumulate in the body. Adherence to a protein restricted diet, resulting in reduced Phe levels, is essential to prevent cognitive decline. Frequent evaluation of plasma Phe levels and, if necessary, adjustment of the diet are the mainstay of treatment. We aimed to assess whether increased self-management of PKU patients and/or their parents is feasible and safe, by providing direct online access to blood Phe values without immediate professional guidance.</p> <p>Methods</p> <p>Thirty-eight patients aged ≥ 1 year participated in a 10 month randomized controlled trial. Patients were randomized into a study group (1) or a control group (2). Group 2 continued the usual procedure: a phone call or e-mail by a dietician in case of a deviant Phe value. Group 1 was given a personal "My PKU" web page with a graph of their recent and previous Phe values, online general information about the dietary treatment and the Dutch PKU follow-up guidelines, and a message-box to contact their dietician if necessary. Phe values were provided on "My PKU" without advice. Outcome measures were: differences in mean Phe value, percentage of values above the recommended range and Phe sample frequency, between a 10-month pre-study period and the study period in each group, and between the groups in both periods. Furthermore we assessed satisfaction of patients and/or parents with the 'My PKU' procedure of online availability.</p> <p>Results</p> <p>There were no significant differences in mean Phe value, percentage of values above recommended range or in frequency of blood spot sampling for Phe determination between the pre-study period and the study period in each group, nor between the 2 groups during the periods. All patients and/or parents expressed a high level of satisfaction with the new way of disease management.</p> <p>Conclusions</p> <p>Increased self-management in PKU by providing patients and/or parents their Phe values without advice is feasible and safe and is highly appreciated.</p> <p>Trial registration</p> <p>The trial was registered with The Netherlands National Trial Register (<a href="http://www.trialregister.nl/trialreg/admin/rctview.asp?TC=1171">NTR #1171</a>) before recruitment of patients.</p

Nutrition and the circadian timing system

Life on earth has evolved under the daily rhythm of light and dark. Consequently, most creatures experience a daily rhythm in food availability. In this review, we first introduce the mammalian circadian timing system, consisting of a central clock in the suprachiasmatic nucleus (SCN) and peripheral clocks in various metabolic tissues including liver, pancreas, and intestine. We describe how peripheral clocks are synchronized by the SCN and metabolic signals. Second, we review the influence of the circadian timing system on food intake behavior, activity of the gastrointestinal system, and several aspects of glucose and lipid metabolism. Third, the circadian control of digestion and metabolism may have important implications for several aspects of food intake in humans. Therefore, we review the human literature on health aspects of meal timing, meal frequency, and breakfast consumption, and we describe the potential implications of the clock system for the timing of enteral tube feeding and parenteral nutrition. Finally, we explore the connection between type 2 diabetes and the circadian timing system. Although the past decade has provided exciting knowledge about the reciprocal relation between biological clocks and feeding/energy metabolism, future research is necessary to further elucidate this fascinating relationship in order to improve human healt

Evaluation of 6 years use of sodium hydroxide solution to clear partially occluded central venous catheters

BACKGROUND & AIMS: Central venous catheter occlusion is a frequently occurring complication during home parenteral nutrition (HPN). The aim of the study was to investigate the effectiveness of sodium hydroxide (NaOH) administration to clear an occluded central venous catheter especially in HPN. METHOD: Retrospective study to the use of NaOH in partially occluded central venous catheters. About 45 patients with HPN treated in the Academic Medical Center of the University of Amsterdam (AMC) were included in this study between January 1997 and April 2003. Excluded from the study were patients under the age of 18 at the start of HPN and/or patients who use parenteral nutrition for less than 3 months. Partial catheter occlusion was defined as a spontaneous flow less than 60 drops/min. RESULTS: In total, 130 occlusions were registered in 29 HPN patients. The other 16 HPN patients did not report any occlusion. The incidence of occlusions in fat containing total parenteral nutrition (TPN) was 1 occlusion in 167 feeding days. TPN without fat showed only one occlusion (incidence 1 in 7126 feeding days). The use of a lipid emulsion proved an important risk factor for catheter occlusion in this study (P <0.05, RR=43). Ninety-five central venous catheter occlusions were treated with NaOH 0.1M. The remaining occlusions were total or mechanical occlusions making NaOH treatment impossible. In 73 out of 95 partial occlusions treatment with NaOH was effective (P <0.05). Using NaOH extended the use of 32 catheters (range 7-1592 days, mean 328). Twenty-one out of 32 catheters could be used for more than 3 months after using NaOH (P <0.05). CONCLUSION: We conclude that perfusion of a partial occluded central venous catheter (defined as 25-60 drops/min) used for parenteral nutrition with 0.1N NaOH is safe and shows a significant long term improvement in catheter care, by preventing total occlusion and operative remova

Managing the patient journey through enteral nutritional care

Nutritional support provision does not happen by accident. Clinical dimensions include screening and assessment, estimation of requirements, identification of a feeding route and the subsequent need for monitoring. Patients may need different forms of nutritional intervention during the course of their illness. Furthermore, these may need to be provided in different locations as their clinical status changes. If this is not properly managed there is potential for inappropriate treatment to be given. Clinical processes can only be effectively implemented if there is a robust infrastructure. The clinical team need to understand the different elements involved in effective service provision and this depends on bringing together disciplines which do not feature overtly on the clinical agenda including catering, finance and senior management. Excellent communication skills at all levels, financial awareness and insight into how other departments function are fundamental to success. Practice needs to be reviewed constantly and creativity about all aspects of service delivery is essential. Finally, it is important that key stakeholders are identified and involved so that they can support any successes and developments. This will raise awareness of the benefits of nutritional intervention and help to ensure that the right resources are available when they are needed

Health-related quality of life, anxiety, depression and distress of mothers and fathers of children on Home parenteral nutrition

Background & aims: Parents of children with intestinal failure, dependent on Home Parenteral Nutrition (HPN), may experience psychosocial problems due to the illness and intensive treatment of their child. Literature concerning psychosocial problems is scarce. Therefore, we aimed to investigate Health-Related Quality of Life (HRQOL), levels of anxiety, depression, distress and everyday problems of these mothers and fathers. Methods: A multicenter study was conducted among 37 mothers and 25 fathers of 37 children on HPN (response-rate 37/49 = 76%, mean age children = 5.1 years, SD = 4.6). Parents completed three questionnaires to measure different outcomes on the KLIK website (www.hetklikt.nu): the TNO-AZL QOL Questionnaire (TAAQOL) to measure HRQOL, the Hospital Anxiety and Depression Scale (HADS) to measure anxiety and depression, and the Distress Thermometer for Parents (DT-P) to measure distress. Scores were compared to Dutch reference mothers and fathers using Mann–Whitney U-tests. Results: No differences were found in HRQOL, measured by the TAAQOL, between HPN parents compared to the reference groups, except for the subscale ‘depressive emotions’ for mothers (p =.01) and ‘daily activities’ for fathers (p =.04). HPN mothers reported higher levels of depression compared to reference mothers (p =.001). In addition, HPN mothers and fathers reported higher levels of distress than reference mothers (p =.001) and fathers (p =.03). HPN mothers reported significantly more problems in the practical, emotional, cognitive and parenting domains, fathers in the social, emotional and parenting domains. Conclusions: On HRQOL, anxiety and depression, HPN parents generally did not show much differences compared to reference parents. However, when asked about parental distress and everyday problems, HPN treatment of their child seems highly stressful for some parents and influences daily functioning. Therefore, structural screening for parental psychosocial problems in clinical practice, e.g. using the DT-P, is necessary in order to improve the well-being of both these parents and their children dependent on HPN

Intermittent fasting does not affect whole-body glucose, lipid, or protein metabolism

Background: Intermittent fasting (IF) was shown to increase whole-body insulin sensitivity, but it is uncertain whether IF selectively influences intermediary metabolism. Such selectivity might be advantageous when adapting to periods of food abundance and food shortage. Objective: The objective was to assess effects of IF on intermediary metabolism and energy expenditure. Design: Glucose, glycerol, and valine fluxes were measured after 2 wk of IF and a standard diet (SD) in 8 lean healthy volunteers in a crossover design, in the basal state and during a 2-step hyper-insulinemic euglycemic clamp, with assessment of energy expenditure and phosphorylation of muscle protein kinase B (AKT), glycogen synthase kinase (GSK), and mammalian target of rapamycine (mTOR). We hypothesized that IF selectively increases peripheral glucose uptake and lowers proteolysis, thereby protecting protein stores. Results: No differences in body weight were observed between the IF and SD groups. Peripheral glucose uptake and hepatic insulin sensitivity during the clamp did not significantly differ between the IF and SD groups. Likewise, lipolysis and proteolysis were not different between the IF and SD groups. IF decreased resting energy expenditure. IF had no effect on the phosphorylation of AKT but significantly increased the phosphorylation of glycogen synthase kinase. Phosphorylation of mTOR was significantly lower after IF than after the SD. Conclusions: IF does not affect whole-body glucose, lipid, or protein metabolism in healthy lean men despite changes in muscle phosphorylation of GSK and mTOR. The decrease in resting energy expenditure after IF indicates the possibility of an increase in weight during IF when caloric intake is not adjusted. This study was registered at www.trialregister.nl as NTR1841. Am J Clin Nutr 2009; 90: 1244-5