Supplementation with a powdered blend of PUFAs normalizes DHA and AA levels in patients with PKU.

Unlabelled: Patients with phenylketonuria (PKU) have a poor LC-PUFA status and require supplementation. The objective of this study was to evaluate the LC-PUFA status of PKU patients supplemented with fish oil or the fatty acid supplement KeyOmega. Plasma and erythrocyte docosahexaenoic acid (DHA) and arachidonic acid (AA) levels were determined in 54 patients (1-18.

Limb motor nerve dysfunction in Miller Fisher syndrome.

Typical Miller Fisher syndrome (MFS) lacks limb muscle weakness, but some patients may unpredictably progress to severe Guillain-Barré syndrome. The compound muscle action potential (CMAP) scan is a recently developed non-invasive, painless, and reproducible method for detecting early changes in motor nerve excitability. This technique was used to monitor subclinical limb motor nerve dysfunction during disease course in typical MFS.

Standardized computer-based organized reporting of EEG: SCORE.

The electroencephalography (EEG) signal has a high complexity, and the process of extracting clinically relevant features is achieved by visual analysis of the recordings. The interobserver agreement in EEG interpretation is only moderate. This is partly due to the method of reporting the findings in free-text format.

A new coding system for metabolic disorders demonstrates gaps in the international disease classifications ICD-10 and SNOMED-CT, which can be barriers to genotype-phenotype data sharing.

Data sharing is essential for a better understanding of genetic disorders. Good phenotype coding plays a key role in this process. Unfortunately, the two most widely used coding systems in medicine, ICD-10 and SNOMED-CT, lack information necessary for the detailed classification and annotation of rare and genetic disorders.

Evaluation of antenatal umbilical coiling index at 16-21 weeks of gestation as a predictor of trisomy 21 and other chromosomal defects.

Objectives: To determine whether there is an association between sonographically assessed hyper- or hypocoiling of the umbilical cord and the presence of trisomy 21, to provide reference values for the antenatal umbilical coiling index (aUCI) at a gestational age of 16-21 weeks and to determine whether these measurements are reliable and reproducible.

Methods: This was a prospective study of 737 pregnancies in which the aUCI was measured between 16 and 21 weeks of gestation by ultrasound at the time of amniocentesis. The aUCI was calculated as the reciprocal value of the mean length of one complete coil in centimeters.

89Zr-PET radiochemistry in the development and application of therapeutic monoclonal antibodies and other biologicals.

Positron emission tomography with (89)Zr can be used to follow the behaviour of therapeutic monoclonal antibodies (mAbs) and other biologicals in vivo. The favourable radiophysical characteristics of (89)Zr allow multiple days PET scanning after injection. For the coupling of (89)Zr to proteins six desferrioxamine (DFO)-based bifunctional chelators have been described, five of which forming stable complexes in vivo.

Necrotizing enterocolitis and respiratory distress syndrome as first clinical presentation of mitochondrial trifunctional protein deficiency.

Background: Newborn screening (NBS) for long-chain 3-hydroxy acyl-CoA dehydrogenase (LCHAD) deficiency does not discriminate between isolated LCHAD deficiency, isolated long-chain keto acyl-CoA (LCKAT) deficiency and general mitochondrial trifunctional protein (MTP) deficiency. Therefore, screening for LCHAD deficiency inevitably comprises screening for MTP deficiency, which is much less amenable to treatment. Furthermore, absence of a clear classification system for these disorders is still lacking.

Quantification of spontaneous and evoked HFO's in SEEG recording and prospective for pre-surgical diagnostics. Case study.

High frequency oscillations (HFO) in stereo electroencephalographic (SEEG) signals have been recently the focus of attention as biomarkers that can have potential predictive power for the spatial location and possibly the timing of the onset of epileptic seizures. In this work we present a case study where we compare two quantitative paradigms for automated detection of biomarkers, one based on spontaneous SEEG recordings of HFOs and the other using activity induced by direct electrical stimulation (relative Phase Clustering Index algorithm). We compare the performance of these automated methods with manually detected HFO ripples by a trained EEG analyst and explore their potential diagnostic relevance.

Automated EEG inter-burst interval detection in neonates with mild to moderate postasphyxial encephalopathy.

EEG inter-burst interval (IBI) and its evolution is a robust parameter for grading hypoxic encephalopathy and prognostication in newborns with perinatal asphyxia. We present a reliable algorithm for the automatic detection of IBIs. This automated approach is based on adaptive segmentation of EEG, classification of segments and use of temporal profiles to describe the global distribution of EEG activity.

Effectiveness of electronic fetal monitoring with additional ST analysis in vertex singleton pregnancies at >36 weeks of gestation: an individual participant data metaanalysis.

Objective: The purpose of this study was to assess the effectiveness of electronic fetal monitoring (EFM) alone and with additional ST analysis (EFM + ST) in laboring women with a singleton term pregnancy that is in cephalic presentation in the prevention of metabolic acidosis by the application of individual patient data metaanalysis.

Study Design: We conducted an individual patient data metaanalysis using data from 4 randomized trials, which enabled us to account for missing data and investigate relevant subgroups. The primary outcome was metabolic acidosis, which was defined as an umbilical cord-artery pH <7.

Lactate to creatinine ratio in amniotic fluid: a pilot study.

Measurement of amniotic fluid (AF) lactate concentration in complicated pregnancies may provide information on the extent of fetal acidemia. However, normalisation for AF volume may be necessary by calculating the lactate:creatinine (L:C) ratio. We measured these AF parameters and compared them to arterial cord blood lactate in 28 term and 10 preterm pregnancies.

Fetal behavior and heart rate in twin pregnancy: a review.

Fetal movements and fetal heart rate (FHR) are well-established markers of fetal well-being and maturation of the fetal central nervous system. The purpose of this paper is to review and discuss the available knowledge on fetal movements and heart rate patterns in twin pregnancies. There is some evidence for an association or similarity in fetal movement incidences or FHR patterns between both members of twin pairs.

Isolated abdominal wall defect with complete liver herniation without a covering or remnant membrane: an ominous sign: case report and review of literature.

Complete liver herniation in abdominal wall defects without a membrane is rare and its prognosis is not well documented. We present a case diagnosed at 12 weeks of gestation. At 27 weeks, a C-section was performed for fetal distress.

Corneal depositions in tyrosinaemia type I during treatment with Nitisinone.

We present a 17-year-old boy, diagnosed with tyrosinaemia type I at an age of 7 months, with new complaints of severe intermittent photophobia and burning eyes. His tyrosinaemia type I is treated with nitisinone and a protein-restricted diet. Dietary compliance is low since he entered puberty.

Functional assay for shiga-like toxin via detection by antibody capture and multivalent galabiose binding.

A functional detection assay was developed for Escherichia coli secreted shiga-like toxin based on antibody capture and visualization with a multivalent galabiose ligand. It was possible to detect verotoxin in medically relevant E. coli samples in a dose dependent fashion.

The CMAP scan as a tool to monitor disease progression in ALS and PMA.

Amyotrophic lateral sclerosis (ALS) and progressive muscular atrophy (PMA) are characterized by a loss of motor units (MUs), reinnervation and, eventually, muscle fibre loss. These three aspects are all reflected in the compound muscle action potential scan (CMAP scan, a high-detail stimulus response curve), which visualizes large MU potentials as 'steps'. We explored changes in the CMAP scan over time, combined the information on steps and CMAP amplitude into a CMAP scan-based progression score (CSPS), and correlated this score with motor unit number estimates (MUNE).

Feeding tolerance of preterm infants appropriate for gestational age (AGA) as compared to those small for gestational age (SGA).

Preterm infants are often considered too unstable to be fed enterally so they are exposed to complications related to a prolonged enteral fasting. Our study aims to compare feeding tolerance of adequate for gestational age (AGA) versus small for gestational age (SGA) infants and to evaluate which perinatal factors affect feeding tolerance (measured as time to achieve full enteral feeding, FEF). Inborn infants with a gestational age (GA) less than 32 weeks, born from January 2006 to December 2010, were eligible for this study.

Advanced glycation end products, measured as skin autofluorescence, during normal pregnancy and pregnancy complicated by diabetes mellitus.

Background: Advanced glycation end products (AGEs) accumulate with age and in diabetes mellitus (DM). AGEs can be measured by the AGE Reader (DiagnOptics Technologies BV, Groningen, The Netherlands) using skin autofluorescence (SAF). SAF is related to chronic diabetes complications.

Is the evidence strong enough to change the diagnostic criteria for gestational diabetes now?

The International Association of the Diabetes and Pregnancy Study Groups has proposed new thresholds for oral glucose tolerance tests that are based on the large observational Hyperglycemia and Adverse Pregnancy Outcomes study. By using these criteria about 18% of pregnant women will be diagnosed as having gestational diabetes mellitus. The question arises if we are ready for such an enormous increase in gestational diabetes mellitus patients, if outcome would really improve by using these criteria, and if additional studies are necessary before deciding on new diagnostic thresholds.

Obstetric care in the Netherlands: relic or example?

This review assesses the rise and fall of the unique Dutch system of obstetric care. Why did home deliveries continue in the Netherlands when they almost completely disappeared in the rest of the Western world? Why is the Dutch system currently under so much pressure? Did the participants continue for too long with too conservative an approach? Which of the good things of the past have been lost?

Gestational diabetes mellitus diagnosed by screening or symptoms: does it matter?

Objective: To investigate whether outcome differs between pregnancies complicated by gestational diabetes mellitus (GDM), which was either detected by risk-factor based screening when no clinical signs are apparent (screening-group) or due to clinical signs of hyperglycemia (e.g. accelerated fetal growth or hydramnios) (diagnosis-group).

Intrapartum fever at term: diagnostic markers to individualize the risk of fetal infection: a review.

Unlabelled: Intrauterine infection is a serious complication during labor at term and is associated with adverse neonatal outcome. Early and accurate diagnosis is of great concern for both obstetrician and pediatrician with the use of current diagnostics. Clinical symptoms are often regarded as the main sign of intrauterine infection but this approach is highly unreliable and leads to both under- and overtreatment.

Selective serotonin reuptake inhibitors in pregnancy.

The use of antidepressant drugs, such as selective serotonin reuptake inhibitors (SSRIs), during pregnancy is rapidly increasing. To date, the effects of SSRI on pregnant women and fetuses are controversial and still a matter of debate. Although a number of studies have shown that these antidepressants are not teratogenic, some of them have reported an increase of congenital malformations after antenatal exposure to SSRIs.

Evaluation of splanchnic oximetry, Doppler flow velocimetry in the superior mesenteric artery and feeding tolerance in very low birth weight IUGR and non-IUGR infants receiving bolus versus continuous enteral nutrition.

Background: IUGR infants are thought to have impaired gut function after birth, which may result in intestinal disturbances, ranging from temporary intolerance to the enteral feeding to full-blown NEC.In literature there is no consensus regarding the impact of enteral feeding on intestinal blood flow and hence regarding the best regimen and the best rate of delivering the enteral nutrition.

Methods/design: This is a randomized, non-pharmacological, single-center, cross-over study including 20 VLBW infants.

Is intrapartum fever associated with ST-waveform changes of the fetal electrocardiogram? A retrospective cohort study.

Objective: To investigate the association between maternal intrapartum fever and ST-waveform changes of the fetal electrocardiogram.

Design: Retrospective cohort study.

Setting: Three academic and six non-academic teaching hospitals in the Netherlands.