Effects of long-chain PUFA supplementation in infant formula on cognitive function in later childhood.

Background: Evidence is accumulating that a dietary supply of long-chain polyunsaturated fatty acids (LC-PUFAs) enhances the development of attention and efficient information processing in infants. However, it is uncertain whether LC-PUFAs in infancy influence cognitive development in later childhood.

Objective: The objective was to determine the effects of dietary LC-PUFAs in infancy on measures of cognitive function at age 6 y.

Functional studies and proteomics in platelets and fibroblasts reveal a lysosomal defect with increased cathepsin-dependent apoptosis in ATP1A3 defective alternating hemiplegia of childhood.

Alternating hemiplegia of childhood (AHC) is a rare syndrome with repeated hemiplegic episodes, paroxysmal events and global neurological impairment. Recently, heterozygous de novo ATP1A3 missense mutations have been identified in AHC patients, but the underlying pathogenesis mechanism remains unknown. Mutation analysis of ATP1A3 in 9 unrelated AHC cases revealed mostly D801N or E815K variants.

Alternating hemiplegia of childhood: metabolic studies in the largest European series of patients.

Alternating hemiplegia of childhood (AHC) is a rare disorder with diagnosis based on clinical criteria, as no laboratory, neuroradiological or genetic markers are currently available. The pathogenic mechanisms are still an enigma. Some hypotheses have been proposed such as hemiplegic migraine variant, epileptic mechanism, channelopathy and mitochondrial disorder, but none of these has been confirmed.

Evidence of a non-progressive course of alternating hemiplegia of childhood: study of a large cohort of children and adults.

Alternating hemiplegia of childhood is a neurological disorder characterized by episodes of hemiplegia, various non-epileptic paroxysmal events and global neurological impairment. Characterization of the evolution and outcome into adulthood has not been sufficiently investigated. The goal of this study was to elucidate the natural history of alternating hemiplegia within a large cohort of 157 patients, as part of the European Network for Research on Alternating Hemiplegia project.

The effect of glycaemia on the cerebral oxygenation in very low birthweight infants as measured by near-infrared spectroscopy.

The cerebral tissue oxygenation index (TOI) and fractional tissue oxygen extraction (FTOE) reflect the cerebral oxygenation. We studied the effect of glycaemia on the TOI and FTOE, as measured by near-infrared-spectroscopy (NIRS). We continuously measured TOI, glycaemia, mean arterial blood pressure (MABP), saturation (SaO(2)) and transcutaneous carbon dioxide pressure (tPCO(2)) for at least 4 h during the first week of life in neonates with gestational age (GA) < 32 weeks and weight < 1500 g.

Ocular findings in children with a microdeletion in chromosome 22q11.2.

A microdeletion in chromosome 22q11.2 is one of the most frequent genetic syndromes. The phenotypic manifestations vary widely, which has led to its initial description as apparently different clinical entities, such as the velocardiofacial syndrome (VCFS) and DiGeorge syndrome.

Use of tissue oxygenation index and fractional tissue oxygen extraction as non-invasive parameters for cerebral oxygenation. A validation study in piglets.

Objective: To evaluate the relation between cerebral tissue oxygenation index (TOI), measured with spatially resolved spectroscopy (SRS), and the different oxygenation parameters. To evaluate the relation between a new parameter named fractional tissue oxygen extraction (FTOE) and the cerebral fractional oxygen extraction (FOE).

Methods: Six newborn piglets were measured at 33, 35, and 37 degrees C and in hypocapnia.

Repeated bilateral retrobulbar injection of botulinum toxin in a blind patient with retinitis pigmentosa and incapacitating nystagmus.

Pronounced visual loss can lead to nystagmus, provoking oscillopsia and distressing ocular sensations. The treatment of acquired nystagmus remains difficult and various therapeutic options are attempted with limited results. We report the case of a man with acquired nystagmus and excessive ocular discomfort, successfully treated with repeated retrobulbar injections with botulinum toxin.

House dust mite-specific T cells in healthy non-atopic children.

Background: T-helper type 2 (Th2) cells play an important role in the pathogenesis of allergic diseases. Recent studies have demonstrated that allergen-specific T cells can also be found in the blood of healthy individuals. Both IL-10 and IFN-gamma might modulate the induction and maintenance of allergen-specific tolerance.

Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency.

Background: Segawa syndrome due to GTP cyclohydrolase deficiency is an autosomal dominant disorder with variable expression, that is clinically characterised by l-dopa responsive, diurnally fluctuating dystonia and parkinsonian symptoms.

Objective: To delineate the neurological and psychiatric phenotype in all affected individuals of three extended families.

Methods: GTP cyclohydrolase deficiency was documented by biochemical analyses, enzymatic measurements in fibroblasts, and molecular investigations.

Surgical treatment outcomes of congenital and juvenile cataracts.

Purpose: Evaluation of visual outcome after lens aspiration with or without intraocular lens implantation for isolated congenital and juvenile cataract in children aged 6 years and younger.

Material And Methods: Retrospective review of 48 children with isolated congenital and juvenile cataract who were surgically treated between January 1993 and December 2002 and had a minimal follow-up of 12 months.

Results: In the group of children with unilateral cataract, 33% (3 out of 9 children) of aphakic children and 45.

Variability in pain expression characteristics in former preterm infants.

Objectives: To document pain expression characteristics in former preterm infants in the first year of life in whom systematic evaluation and treatment of pain was provided.

Methods: Data on the Modified Behavioral Pain Scale (MBPS), Visual Analogue Scale (VAS, crying time and heart rate were collected during immunization. The effect of clinical characteristics {postconception and gestational age [PCA], surgery, ventilation, fentanyl, length of stay (LOS)} on bio-behavioral parameters was evaluated.

Ibuprofen and cerebral oxygenation and circulation.

The effect of prophylactic administration of ibuprofen on the cerebral circulation in preterm babies was measured with near infrared spectroscopy. No significant difference in the change in cerebral blood volume, change in cerebral blood flow, or tissue oxygenation index was found between administration of ibuprofen or placebo.

Rett syndrome in females with CTS hot spot deletions: a disorder profile.

From a series of 107 females with Rett syndrome (RTT), we describe the long-term history of ten females with a deletion in the C-terminus of the MECP2 gene. We observed that their disorder profile is clinically recognizable with time and different from other atypical and milder RTT phenotypes. In females with hot spot deletions in the C-terminus, dystonia is present from childhood and results in a serious spine deformation in spite of preventive measures.

Measurement of the liver tissue oxygenation by near-infrared spectroscopy.

Objective: To study the relation between the liver tissue oxygenation index (TOI), transcutaneously measured with spatially resolved spectroscopy (a new method of near-infrared spectroscopy or NIRS), the mixed venous oxygen saturation and the blood flow in the different parts of the splanchnic circulation in newborn piglets.

Design: Tissue oxygenation index of the liver was measured in six newborn piglets at 33 degrees C, 35 degrees C, 37 degrees C and after a decrease in arterial carbon dioxide pressure (PaCO(2)).

Measurements: Mixed venous oxygen saturation, blood gas analysis and peripheral oxygen saturation were measured at each step.

Continuous measurement of cerebral blood volume and oxygenation during rewarming of neonates.

Aim: To investigate the effect of rewarming in preterm infants presenting with hypothermia at admission.

Methods: The tissue oxygenation index (TOI), changes in cerebral blood volume (DeltaCBV) and changes in intravascular oxygenation (DeltaHbD) were measured in eight preterm infants, presenting with a temperature less than 35 degrees C at admission.

Results: A significant increase in HbD and TOI was seen in four patients (group A), while a significant increase in CBV and a decrease in HbD was seen in four other patients (group B).

Long chain polyunsaturated fatty acid supplementation in infant formula and blood pressure in later childhood: follow up of a randomised controlled trial.

Objective: To determine whether supplementation of infant formula milk with long chain polyunsaturated fatty acids (LCPUFAs) influences blood pressure in later childhood.

Design: Follow up of a multicentre, randomised controlled trial.

Setting: Four study centres in Europe.

The value of fast MR imaging as an adjunct to ultrasound in prenatal diagnosis.

The aim of this study was to evaluate the role of MR imaging of the fetus to improve sonographic prenatal diagnosis of congenital anomalies. In 40 fetuses (not consecutive cases) with an abnormality diagnosed with ultrasound, additional MR imaging was performed. The basic sequence was a T2-weighted single-shot half Fourier (HASTE) technique.

Quantitation of the concordance between cerebral intravascular oxygenation and mean arterial blood pressure for the detection of impaired autoregulation.

Since some important forms of brain injury in premature infants are caused in considerable part by disturbances in cerebral blood flow (CBF), it is important to be able to detect whether the cerebrovascular autoregulation, the mechanism by which CBF is maintained constant despite alterations in mean arterial blood pressure (MAP), is working properly. A recent study suggested that concordant changes in MAP and cerebral intravascular oxygenation (HbD), measured non-invasively by near-infrared spectroscopy (NIRS) as the difference between the concentration changes of oxygenated hemoglobin (HbO2) and deoxygenated hemoglobin (Hb), reflect impaired cerebrovascular autoregulation. Consequently, premature infants with impaired cerebrovascular autoregulation could be identified by simultaneous, continuous measurements of HbD and MAP.

Measurement of tissue oxygenation index during the first three days in premature born infants.

No normal values of tissue oxygenation index (TOI) of the brain are known regarding premature born infants. We measured TOI, a measure for the cerebral hemoglobin oxygen saturation, on the head of 15 preterm infants with a median postmenstrual age of 28 weeks (interquartile range (IQR) between 26-29 weeks) with spatially resolved spectroscopy (NIRO 300, Hamamatsu) during the first three days of life. Infants with intra-ventricular hemorrhage or periventricular leucomalacia before the first measurement, as shown by ultrasound, were excluded.

Cerebral tissue oxygenation index in very premature infants.

Aim: To describe normal values of the cerebral tissue oxygenation index (TOI) in premature infants.

Methods: TOI was measured by spatially resolved spectroscopy in preterm infants on the first 3 days of life. Infants with an abnormal cranial ultrasound were excluded.

Risperidone in the treatment of childhood autistic disorder: an open pilot study.

Objective: To evaluate the tolerability and efficacy of risperidone in childhood autistic disorder.

Methods: A multicenter, open-label, dose-titration study involving seven autistic children (mean age 7.6 years) receiving risperidone for 4 weeks.

Polyarthritis and humeral epiphysial separation in an infant with acute disseminated histoplasmosis.

The case of an immunocompetent infant with disseminated histoplasmosis is described. The case is unusual in its clinical presentation in that it is dominated, apart from respiratory infection, by the presence of polyarthritis and complicated by epiphysial separation of both humeri. There was only little involvement of reticuloendothelial tissues.

Effects of non-nutritive sucking on heart rate, respiration and oxygenation: a model-based signal processing approach.

Several studies support the idea that the use of pacifiers can reduce the risk of Sudden Infant Death Syndrome. To investigate the effect of non-nutritive sucking (NNS), we measured heart rate, abdominal respiration, EMG and arterial oxygen saturation of 20 neonates. Also, in 10 of these neonates, changes in cerebral hemoglobin concentrations were acquired by means of near-infrared spectroscopy.