Novel microdeletions on chromosome 14q32.2 suggest a potential role for non-coding RNAs in Kagami-Ogata syndrome.

In approximately 20% of individuals with Kagami-Ogata syndrome (KOS14, MIM 608149), characterized by a bell-shaped thorax with coat-hanger configuration of the ribs, joint contractures, abdominal wall defects and polyhydramnios during the pregnancy, the syndrome is caused by a maternal deletion of the imprinted gene cluster in chromosome 14q32.2. Most deletions reported so far included one or both of the differentially methylated regions (DMRs) - DLK1/MEG3 IG-DMR and MEG3-DMR.

Extremely Preterm Born Children at Very High Risk for Developing Autism Spectrum Disorder.

This study aimed to provide a more comprehensive picture of the prevalence of autism spectrum disorder (ASD) in a geographic cohort of extremely preterm born adolescents by using established diagnostic instruments in addition to screening instruments. 53 participants passed a screening procedure with two screening instruments and a diagnostic evaluation with a semi-structured assessment and a parent interview. 28 % of the adolescents had a community based clinical diagnosis of ASD.

Extremely high mutation load of the mitochondrial 8993 T>G mutation in a newborn: implications for prognosis and family planning decisions.

Unlabelled: The propositus presented with hypotonia, respiratory failure, and seizures in the newborn period and was found to have severe hyperlactacidemia and a hypertrophic heart. He carried a de novo pathogenic mutation (m.8993 T>G) in the gene encoding subunit 6 of the mitochondrial ATP synthase (MTATP6).

Healthcare-associated bloodstream infections in a neonatal intensive care unit over a 20-year period (1992-2011): trends in incidence, pathogens, and mortality.

Objective: To analyze trends in the incidence and pathogen distribution of healthcare-associated bloodstream infections (HABSIs) over a 20-year period (1992-2011).

Design: Historical cohort study.

Setting: Thirty-two-bed neonatal intensive care unit (NICU) in a tertiary referral hospital.

Functional polymorphism in gamma-glutamylcarboxylase is a risk factor for severe neonatal hemorrhage.

A neonate who received vitamin K (VK) supplementation then developed severe late-onset bleeding with abnormal prothrombin time and activated partial thromboplastine time. The bleeding was corrected after intravenous VK. Molecular analysis of the gamma-glutamylcarboxylase gene revealed a heterozygous single nucleotide polymorphism, which decreases carboxylase activity and induces VK-dependent coagulation deficiency.

Citrulline levels in a paediatric age group: does measurement on dried blood spots have additional value?

Background: Citrulline is considered to be a marker of absorptive enterocyte mass. Citrulline levels can be measured in plasma or dried blood spot (DBS) samples. The purpose of this study is to calculate reference intervals for plasma and DBS citrulline concentrations in children and to examine the effect of age and gender.

Predictability of cerebral palsy in a high-risk NICU population.

Aim: This study aims to create a predictive model for the assessment of the individual risk of developing cerebral palsy in a large cohort of selected high-risk infants.

Patients And Methods: 1099 NICU-admitted high-risk infants were assessed up to the corrected age of at least 12 months. CP was categorized relative to subtype, distribution and severity.

Predictability of cerebral palsy and its characteristics through neonatal cranial ultrasound in a high-risk NICU population.

The aim of the study is to evaluate the predictive value of various types of brain injury detected by ultrasound in the neonatal period for the occurrence of cerebral palsy and its characteristics in a large cohort of high-risk infants. Thousand twenty-one consecutively NICU-admitted high-risk infants were assessed up to the corrected age of at least 2 years. Cerebral palsy (CP) was categorised into spastic or non-spastic, bilateral or unilateral and mild, moderate or severe CP.

Influence of gestational age on nosologic CP characteristics in a high-risk population.

The aim of this study is to investigate the interrelationship between gestational age (GA) and nosologic characteristics (type, distribution and severity) of cerebral palsy (CP) in a cohort of high-risk infants. One thousand ninety-nine consecutively neonatal intensive care unit-admitted high-risk infants (i.e.

Lactic acidosis in a newborn with adrenal calcifications.

A patient is reported who presented in the newborn period with an unusual combination of congenital lactic acidosis and bilateral calcifications in the adrenal medulla, visible on standard abdominal x-ray and ultrasound examination. At birth, the proband was hypotonic and dystrophic. She developed respiratory insufficiency, cardiomegaly, and hepatomegaly and died at the age of 38 d.

Prevalence, type, distribution, and severity of cerebral palsy in relation to gestational age: a meta-analytic review.

The aim of this review is to determine the relationship between gestational age (GA) and prevalence, type, distribution, and severity of cerebral palsy (CP). Epidemiological studies with cohorts expressed by GA were assessed. A comprehensive meta-analysis and meta-regression was performed on four fetal age categories.

Influence of gestational age on the type of brain injury and neuromotor outcome in high-risk neonates.

This study was an investigation of a possible correlation between either the gestational age (GA) and type of brain injury or between the gestational age and type, distribution and severity of cerebral palsy (CP). Four hundred sixty-one children with a birthweight > or = 1250 g and GA > or = 30 weeks with a complicated neonatal period and/or brain injury on serial cerebral ultrasound were selectively followed at the regional Center for Developmental Disorders. The children were divided into a preterm and term group.

Outcome at 3 years of age in a population-based cohort of extremely preterm infants.

Objective: To assess health and neurodevelopmental outcome at 3 years of age in neonatal intensive care unit (NICU)-surviving children who were born at 26 or fewer weeks of gestation in a geographically defined region of Belgium from 1999 through 2000.

Methods: The study included a clinical examination and a standardized neurologic and developmental assessment. Disabilities were defined by international criteria.

Congenital pontocerebellar atrophy and telencephalic defects in three siblings: a new subtype.

We report three siblings, two of whom had a neuropathological study, with a new subtype of congenital ponto-cerebellar atrophy (PCH). In addition to the brain stem and cerebellar anomalies common to all types of this heterogeneous condition, there were unique developmental defects in the telencephalon: absence of the claustrum, diffuse cortical changes particularly in the insula and an extremely small brain. In an attempt to shed some light on the pathogenesis of this developmental disorder, we have analyzed the pattern of brain stem and cerebellar abnormalities in ours and in previously reported patients with PCH, to possibly distinguish primary from secondary effects of the mutant gene upon the cerebellar circuitry, and compared our patients' cerebellar and cerebral defects to those of some other human brain malformations and to mutant mice with both hindbrain and forebrain anomalies.

Unilateral bloody nipple discharge in a two-month-old male.

Bloody nipple discharge is a rare but distressing finding in neonates and infants. We report on a 2-month-old boy with unilateral bloody nipple discharge. Ultrasound examination revealed dilated mammary ducts.

Maternal vitamin A deficiency and neonatal microphthalmia: complications of biliopancreatic diversion?

Biliopancreatic diversion (BPD) for morbid obesity carries a serious risk of nutritional deficiencies that might impair embryogenesis. Consequently, attention should be given to the potential of risk to the fetus of BPD in women of childbearing age. We present the case of a pregnant woman who had undergone BPD 8 years previously, with documented vitamin A deficiency, who gave birth to a child with bilateral microphthalmia.

Evidence for autosomal dominant inheritance in prenatally diagnosed CHAOS.

Congenital high airway obstruction syndrome (CHAOS) is a rare prenatal diagnosis consisting of a typical fetal triad of large hyperechogenic lungs, flattened or inverted diaphragms and ascites. Most cases are sporadic with unknown incidence. Before attempts of fetoscopic fetal salvage or ex utero intrapartum treatment (EXIT) are considered, additional malformations must be carefully excluded as CHAOS may be part of various monogenic conditions or chromosomal disorders.

Phototherapy-mediated syndrome of inappropriate secretion of antidiuretic hormone in an in utero selective serotonin reuptake inhibitor-exposed newborn infant.

Although selective serotonin reuptake inhibitors (SSRIs) have gained wide acceptance in the off-label treatment of mental disorders in pregnant women, there seems to be an increased risk for serotonergic adverse effects in newborn infants who are exposed to SSRIs during late pregnancy. Hyponatremia as a result of the syndrome of inappropriate secretion of antidiuretic hormone (SIADH) is a relatively common serious side effect of the use of SSRIs in (mostly elderly) adults. Severe hyponatremia as a result of an SIADH is proposed here as part of a neonatal serotonin toxicity syndrome in a newborn infant who was exposed prenatally to an SSRI.

Transplacental passage of a nonionic contrast agent.

Unlabelled: We report the presence of iopromide in the bowel and urine of a preterm infant, born 10 days after intravenous administration of the nonionic monomer to his mother. Excessive urinary iodine excretion and borderline hyperthyrotropinaemia were observed in the infant. Moreover, crossing of the fetal blood-brain barrier was demonstrated by detection of the angiographic material in CSF and thus direct fetal neurotoxic effects cannot be excluded.

The EPIBEL study: outcomes to discharge from hospital for extremely preterm infants in Belgium.

Objective: To determine mortality and morbidity at discharge from the hospital of a large population-based cohort of infants who were born at
Methods: Perinatal data were collected on extremely preterm infants who were alive at the onset of labor and born between January 1, 1999, and December 31, 2000, in all 19 Belgian perinatal centers.

Results: A total of 525 infants were recorded.

The structure of a triple mutant of pI258 arsenate reductase from Staphylococcus aureus and its 5-thio-2-nitrobenzoic acid adduct.

Structural insights into formation of the complex between the ubiquitous thiol-disulfide oxidoreductase thioredoxin and its oxidized substrate are under-documented owing to its entropical instability. In vitro, it is possible via a reaction with 5,5'-dithiobis-(2-nitrobenzoic acid) to make a stable mixed-disulfide complex between thioredoxin from Staphylococcus aureus and one of its substrates, oxidized pI258 arsenate reductase (ArsC) from S. aureus.

How thioredoxin can reduce a buried disulphide bond.

We present a study of the interaction between thioredoxin and the model enzyme pI258 arsenate reductase (ArsC) from Staphylococcus aureus. ArsC catalyses the reduction of arsenate to arsenite. Three redox active cysteine residues (Cys10, Cys82 and Cys89) are involved.