Role of CAMK2D in neurodevelopment and associated conditions.

The calcium/calmodulin-dependent protein kinase type 2 (CAMK2) family consists of four different isozymes, encoded by four different genes-CAMK2A, CAMK2B, CAMK2G, and CAMK2D-of which the first three have been associated recently with neurodevelopmental disorders. CAMK2D is one of the major CAMK2 proteins expressed in the heart and has been associated with cardiac anomalies. Although this CAMK2 isoform is also known to be one of the major CAMK2 subtypes expressed during early brain development, it has never been linked with neurodevelopmental disorders until now.

ESPEN guideline on chronic intestinal failure in adults - Update 2023.

Background & Aims: In 2016, ESPEN published the guideline for Chronic Intestinal Failure (CIF) in adults. An updated version of ESPEN guidelines on CIF due to benign disease in adults was devised in order to incorporate new evidence since the publication of the previous ESPEN guidelines.

Methods: The grading system of the Scottish Intercollegiate Guidelines Network (SIGN) was used to grade the literature.

Bridging-to-Surgery in Patients with Type 2 Intestinal Failure.

Aim: Type 2 intestinal failure (IF) is characterized by the need for longer-term parenteral nutrition (PN). During this so-called bridging-to-surgery period, morbidity and mortality rates are high. This study aimed to evaluate to what extent a multidisciplinary IF team is capable to safely guide patients towards reconstructive surgery.

Body Composition Using Air Displacement Plethysmography in Children With Intestinal Failure Receiving Long-Term Home Parenteral Nutrition.

Background: Children with intestinal failure (IF) are at risk of growth failure, but little information about body composition is available. Our aim was to assess body composition using air displacement plethysmography (ADP) and relate it to clinical and growth parameters.

Methods: In this prospective descriptive observational 2-center cohort study, children aged 2-18 years receiving home parenteral nutrition (PN) for ≥6 months underwent ADP measurement.

Intestinal failure in adults: Recommendations from the ESPEN expert groups.

Background & Aims: Intestinal failure (IF) is defined as "the reduction of gut function below the minimum necessary for the absorption of macronutrients and/or water and electrolytes, such that intravenous supplementation is required to maintain health and/or growth". Functionally, it may be classified as type I acute intestinal failure (AIF), type II prolonged AIF and type III chronic intestinal failure (CIF) The ESPEN Workshop on IF was held in Bologna, Italy, on 15-16 October 2017 and the aims of this document were to highlight the current state of the art and future directions for research in IF.

Methods: This paper represents the opinion of experts in the field, based on current evidence.

An international study of the quality of life of adult patients treated with home parenteral nutrition.

Background & Aims: Home parenteral nutrition-quality of life (HPN-QOL) is a self-assessment tool for the measurement of QOL in patients on HPN. The aims of this study were: to re-assess the basic psychometric properties of the HPN-QOL in a multinational sample of adult patients; to provide a description of QOL dimensions by short and long HPN treatment duration; to explore clinical factors potentially associated to QOL scores.

Methods: Patients (n = 699) from 14 countries completed the HPN-QOL.

[Undernourished in hospital].

Patients with a positive undernutrition screening score stay in hospital 1.4 days longer, with more associated complications and costs. A paper elsewhere in this journal describes the implementation of a novel in-hospital meal service resulting in improved protein and energy intake.

[Doctors focus on the needs of the elderly].

The Dutch National Care for the Elderly Programme started in 2008. Eight regional networks were formed, in which more than 75 projects were carried out to improve care and wellbeing for frail elderly persons. The programme will come to an end in 2017.

How strict is galactose restriction in adults with galactosaemia? International practice.

Dietary management of 418 adult patients with galactosaemia (from 39 centres/12 countries) was compared. All centres advised lactose restriction, 6 restricted galactose from galactosides ± fruits and vegetables and 12 offal. 38% (n=15) relaxed diet by: 1) allowing traces of lactose in manufactured foods (n=13) or 2) giving fruits, vegetables and galactosides (n=2).

Practices in prescribing protein substitutes for PKU in Europe: No uniformity of approach.

Background: There appears little consensus concerning protein requirements in phenylketonuria (PKU).

Methods: A questionnaire completed by 63 European and Turkish IMD centres from 18 countries collected data on prescribed total protein intake (natural/intact protein and phenylalanine-free protein substitute [PS]) by age, administration frequency and method, monitoring, and type of protein substitute. Data were analysed by European region using descriptive statistics.

Presentation of a nationwide multicenter registry of intestinal failure and intestinal transplantation.

Background & Aims: Exact data on Dutch patients with chronic intestinal failure (CIF) and after intestinal transplantation (ITx) have been lacking. To improve standard care of these patients, a nationwide collaboration has been established. Objectives of this study were obtaining an up-to-date prevalence of CIF and characterizing these patients using the specially developed multicenter web-based Dutch Registry of Intestinal Failure and Intestinal Transplantation (DRIFT).

The prognosis of incurable cachectic cancer patients on home parenteral nutrition: a multi-centre observational study with prospective follow-up of 414 patients.

Background: The role of home parenteral nutrition (HPN) in incurable cachectic cancer patients unable to eat is extremely controversial. The aim of this study is to analyse which factors can influence the outcome.

Patients And Methods: We studied prospectively 414 incurable cachectic (sub)obstructed cancer patients receiving HPN and analysed the association between patient or clinical characteristics and surviving status.

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.

Prophylactic anticoagulation decreases catheter-related thrombosis and occlusion in children with home parenteral nutrition.

Background: Home parenteral nutrition (PN) has improved the survival of children with intestinal failure. Important complications include catheter-related thrombosis, occlusion, and infection. This study evaluated the efficacy and safety of prophylactic anticoagulation in the prevention of these complications.

The 48-hour tetrahydrobiopterin loading test in patients with phenylketonuria: evaluation of protocol and influence of baseline phenylalanine concentration.

Background: The 24- and 48-hour tetrahydrobiopterin (BH4) loading test (BLT) performed at a minimum baseline phenylalanine concentration of 400 μmol/l is commonly used to test phenylketonuria patients for BH4 responsiveness. This study aimed to analyze differences between the 24- and 48-hour BLT and the necessity of the 400 μmol/l minimum baseline phenylalanine concentration.

Methods: Data on 186 phenylketonuria patients were collected.

The effectiveness of a minimal psychological intervention on self-management beliefs and behaviors in depressed chronically ill elderly persons: a randomized trial.

Background: Chronically ill patients often develop symptoms of depression. They run the risk of sliding into a downward spiral because of the interaction between depression and chronic illness. A minimal psychological intervention (MPI) has been developed to break through the spiral by applying principles of self-management and cognitive behavioral therapy.

Disparities by education level in outcomes of a self-management intervention: the DELTA trial in The Netherlands.

Objective: The study examined whether education level was associated with benefits derived from a self-management intervention. Because such interventions increase one's sense of control, it was hypothesized that persons with less education, who generally have a diminished sense of control, would derive greater benefit.

Methods: A randomized trial was conducted with 361 patients aged 60 and older with type 2 diabetes or chronic obstructive pulmonary disease and mild to moderate depression.

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

Background: 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.

Cost-utility estimates in depression: does the valuation method matter?

Background: Depression imposes a substantial burden on society. In view of the economic burden of depression, studies evaluating depression treatment increasingly incorporate a cost-utility analysis. Outcomes of these analyses are used by decision makers to prioritize healthcare.

Treating depression in diabetes patients: does a nurse-administered minimal psychological intervention affect diabetes-specific quality of life and glycaemic control? A randomized controlled trial.

Aims: The aim of this study was to examine whether a nurse-administered minimal psychological intervention for depressive symptoms improves diabetes-specific quality of life and glycaemic control in older persons with diabetes.

Background: Depression is common among persons with diabetes and may have a negative impact on diabetes. Interventions aimed at reducing depressive symptoms may positively influence diabetes-specific quality of life as well.

Prescribing antidepressants and benzodiazepines in the Netherlands: is chronic physical illness involved?

In this study we assessed differences in new and repeat prescriptions of psycho-tropics between patients receiving prescriptions for drugs to treat a common chronic disease and people without such prescriptions. The study used the databases of two Dutch health insurance companies (3 million people). We selected all Dutch men and women aged 45 and older who were registered for six consecutive years (1999-2004).

Improving quality of life in depressed COPD patients: effectiveness of a minimal psychological intervention.

Depression and anxiety are highly prevalent in elderly COPD patients. Since symptoms of depression and anxiety reduce quality of life in these patients, treatments aimed at improving mental health may improve their quality of life. This study evaluated the effectiveness of a nurse-led Minimal Psychological Intervention (MPI) in reducing depression and anxiety, and improving disease-specific quality of life in elderly COPD patients.

How nutritional risk is assessed and managed in European hospitals: a survey of 21,007 patients findings from the 2007-2008 cross-sectional nutritionDay survey.

Background & Aims: Recognition and treatment of undernutrition in hospitalized patients are not often a priority in clinical practice.

Objectives: We investigated how the nutritional risk of patients is determined and whether such assessment influences daily nutritional care across Europe and in Israeli hospitals.

Methods: 1217 units from 325 hospitals in 25 countries with 21,007 patients participated in a longitudinal survey "nutritionDay" 2007/2008 undertaken in Europe and Israel.

A minimal psychological intervention in chronically ill elderly patients with depression: a randomized trial.

Background: Among older persons with chronic somatic diseases, depression often remains unrecognized and untreated in primary care. The Depression in Elderly with Long-Term Afflictions (DELTA) study aimed to evaluate the effectiveness of a nurse-led minimal psychological intervention (MPI) in chronically ill elderly persons with depression.

Methods: A randomized controlled trial was conducted, comparing the MPI with usual care in 361 primary care patients.

Economic evaluation of a minimal psychological intervention in chronically ill elderly patients with minor or mild to moderate depression: a randomized trial (the DELTA-study).

Objectives: Depression is associated with high healthcare utilization and related costs. Effective treatments might reduce the economic burden. The objective of this study was to establish the cost-utility of a minimal psychological intervention (MPI) aimed at reducing depression and improving quality of life in elderly persons with diabetes or chronic obstructive pulmonary disease and co-occurring minor, mild, or moderate depression.