Serial neurosonography in fetuses with congenital heart defects shows mild delays in cortical development

Introduction Neurodevelopmental delay is more common in children born with congenital heart defects (CHD), even with optimal perinatal and peri-operative care. It is hypothesized that fetuses with CHD are prone to neurological impairment in utero due to their cardiac defect, possibly leading to delayed cortical development. Methods Cerebral cortical maturation was assessed with advanced neurosonographic examinations every 4 weeks in fetuses with CHD and compared to control fetuses. Five different primary fissures and four areas were scored (ranging 0-5) by blinded examiners using a cortical maturation scheme. Results Cortical staging was assessed in 574 ultrasound examinations in 85 CHD fetuses and 61 controls. Small differences in grading were seen in Sylvian and cingulate fissures. (Sylvian fissure: -0.12 grade, 95% CI (-0.23; -0.01) p = 0.05, cingulate fissure: -0.24 grade, 95% CI (-0.38; -0.10) p = <0.001. Other cortical areas showed normal maturation as compared to control fetuses. Conclusion Small differences were seen in three of the nine analyzed cortical areas in CHD fetuses, in contrast to previous reports on progressive third-trimester delay. The clinical implications of the small differences however, remain unknown.Research into fetal development and medicin

A study of smoke formation from wood combustion

Aerosol time of flight mass spectrometry (ATOFMS) was used to analyse the particles emitted during the flaming and smouldering phases of the combustion of samples of hard and soft woods. Eugenol and furfural were also burned and using results from previous work of the authors, they have been shown to be useful proxies for initial wood combustion products. The ratios of elementary carbon to total carbon in the particles were similar for both the woods and for eugenol. The ATOFMS spectra of most of the particles were consistent with the presence of soot precursor constituents along with oxygen containing fragments. Most particle diameters were less than 2.5. μm, with the greatest concentration of <. 0.12. μm

Identification of Srp9 as a febrile seizure susceptibility gene

Objective: Febrile seizures (FS) are the most common seizure type in young children. Complex FS are a risk factor for mesial temporal lobe epilepsy (mTLE). To identify new FS susceptibility genes we used a forward genetic strategy in mice and subsequently analyzed candidate genes in humans. Methods: We mapped a quantitative trait locus (QTL1) for hyperthermia-induced FS on mouse chromosome 1, containing the signal recognition particle 9 (Srp9) gene. Effects of differential Srp9 expression were assessed in vivo and in vitro. Hippocampal SRP9 expression and genetic association were analyzed in FS and mTLE patients. Results: Srp9 was differentially expressed between parental strains C57BL/6J and A/J. Chromosome substitution strain 1 (CSS1) mice exhibited lower FS susceptibility and Srp9 expression than C57BL/6J mice. In vivo knockdown of brain Srp9 reduced FS susceptibility. Mice with reduced Srp9 expression and FS susceptibility, exhibited reduced hippocampal AMPA and NMDA currents. Downregulation of neuronal Srp9 reduced surface expression of AMPA receptor subunit GluA1. mTLE patients with antecedent FS had higher SRP9 expression than patients without. SRP9 promoter SNP rs12403575(G/A) was genetically associated with FS and mTLE. Interpretation: Our findings identify SRP9 as a novel FS susceptibility gene and indicate that SRP9 conveys its effects through endoplasmic reticulum (ER)-dependent synthesis and trafficking of membrane proteins, such as glutamate receptors. Discovery of this new FS gene and mechanism may provide new leads for early diagnosis and treatment of children with complex FS at risk for mTLE

Adapting the marconitorens

Master thesis project by Jeroen van LithHyperbodyArchitectureArchitecture and The Built Environmen

DISPERSE DECAY KINETICS OF EXCESS ELECTRONS IN PULSE IRRADIATED FROZEN AQUEOUS GELS

A study has been carried out on the behaviour of excess electrons formed by nanosecond pulsed ionisation of systems consisting of water and the gelling agent kappa - carrageenan. Measurements have been made for weight fractions of carrageenan from 0.01 to 0.74 and for temperatures down to -150°C. Down to approximately -60°C electrons decay exponentially with lifetimes an order of magnitude longer than in pure, bulk ice. Below -60°C deviations from exponential decay kinetics become increasingly evident. These deviations are more pronounced the lower the water content of the sample. The disperse kinetic behaviour observed is thought to be related to the decrease in the average dimensions of the ice microcrystallites encapsulated in the gel matrix

Acute Hemorrhage in Monochorionic Twins with Ruptured Velamentous Vessels: Anemic Twin Resuscitated by Its Co-Twin through Placental Vascular Anastomoses?

Epidemiology in Pediatrics and Child Healt

Current insights into the molecular genetic basis of dwarfism in livestock

Impairment of bone growth at a young age leads to dwarfism in adulthood. Dwarfism can be categorised as either proportionate, an overall size reduction without changes in body proportions, or disproportionate, a size reduction in one or more limbs, with changes in body proportions. Many forms of dwarfism are inherited and result from structural disruptions or disrupted signalling pathways. Hormonal disruptions are evident in Brooksville miniature Brahman cattle and Z-linked dwarfism in chickens, caused by mutations in GH1 and GHR. Furthermore, mutations in IHH are the underlying cause of creeper achondroplasia in chickens. Belgian blue cattle display proportionate dwarfism caused by a mutation in RNF11, while American Angus cattle dwarfism is caused by a mutation in PRKG2. Mutations in EVC2 are associated with dwarfism in Japanese brown cattle and Tyrolean grey cattle. Fleckvieh dwarfism is caused by mutations in the GON4L gene. Mutations in COL10A1 and COL2A1 cause dwarfism in pigs and Holstein cattle, both associated with structural disruptions, while several mutations in ACAN are associated with bulldog-type dwarfism in Dexter cattle and dwarfism in American miniature horses. In other equine breeds, such as Shetland ponies and Friesian horses, dwarfism is caused by mutations in SHOX and B4GALT7. In Texel sheep, chondrodysplasia is associated with a deletion in SLC13A1. This review discusses genes known to be involved in these and other forms of dwarfism in livestock

THE CRITICAL ONSET OF RADIATION INDUCED CONDUCTION IN HYDRATED BIOPOLYMERS AT ELEVATED WATER CONTENTS AND SUBZERO TEMPERATURES

The nanosecond time-resolved microwave conductivity (TRMC) pulse radiolysis technique has been applied to the study of electronic conduction in hydrated biopolymers at temperatures ranging from -20 to -180°C. The polymers investigated were the nuclei acid DNA, the proteins collagen and gelatin and the polysaccharide kapa-carageenan. In no case was a conductivity transient found for the dry compounds. A certain weight fraction of water was required before a radiation induced transient conductivity was observable. The "critical" water fractions for the above compounds were 0.45, 0.30, 0.32 and 0.28 respectively. These water contents are thought to correspond to those required for formation of the first, strongly bound hydration layer of the biopolymer. Further addition results in a more ice-like hydration layer which displays a highly mobile electronic charge carrier similar to that found in bulk ice. The ice doped HF and NH4F have marked effects on the conductivity transients

A comparison of the impact of screen-positive results obtained from ultrasound and biochemical screening for Down syndrome in the first trimester: a pilot study

OBJECTIVE: To compare the experiences of women who received a screen-positive test result for Down syndrome after nuchal translucency screening or after biochemical screening in the first trimester of pregnancy in the Netherlands. METHOD: Semi-quantitative questionnaires were sent to 40 women with a screen-positive test result for Down syndrome in the first trimester of pregnancy: 20 had undergone nuchal translucency screening (NT group) and 20 had undergone serum screening (PAPP-A and free beta-hCG) (SS group). In all the cases, chorionic villus sampling (CVS) had not revealed any chromosomal abnormalities. RESULTS: The major reason for undergoing the screening test in both groups of women was to be more reassured about the health of the baby. In the NT group, 5 out of the 20 women stated that they had suddenly been confronted with the NT measurement during the ultrasound examination without even being asked, or had been caught by surprise about the possibility. Together with two other women, they felt that at that stage they had been insufficiently informed about what the test meant. In the SS group, two women also held this opinion. In 10 out of the 20 women in the SS group, the positive-screening result had caused (a great deal of) anxiety. In the NT group, this proportion was as high as 18 out of the 20. Six of the women in the NT group mentioned that 'seeing the baby' had been an important factor in their decision to undergo CVS. Even after a favourable result of CVS, a proportion of the pregnant women were still feeling anxious about the health of their baby (5 women in the SS group and 12 in the NT group). Nevertheless, a large proportion of the women in both groups was pleased that they had undergone the screening test. Only a few of them stated that they would not choose the same screening test again in a future pregnancy. CONCLUSIONS: An unfavourable screening result after NT screening appeared to have a greater impact than an unfavourable result after serum screening. This might partly be explained by the ultrasound examination visualising the increased risk during NT screening. An additional important role may have been played by the fact that an abnormal NT screening result implies an increased risk of other disorders besides Down syndrome, which the women should be informed about beforehand. Several factors place special demands on the counselling prior to NT screening. Copyright 2004 John Wiley & Sons, Ltd