CURRENT GENETIC COUNSELING PRACTICE FOLLOWING POSITIVE NON-INVASIVE PRENATAL TESTING FOR SEX CHROMOSOME ABNORMALITIES

The purpose of this study was to describe current prenatal and pediatric genetic counseling practice following a non-invasive prenatal testing (NIPT) result positive for a sex chromosome abnormality (SCA). The positive predictive value for SCA with NIPT is lower than seen for Trisomy 21 due to natural loss of the X chromosome from maternal cells during aging, confined placental mosaicism, and undiagnosed maternal sex chromosome abnormality. Except for 45,X, individuals with SCA usually have no ultrasound or postnatal findings. This makes follow-up for unresolved positive NIPT necessary; however, there are currently no clinical guidelines. This study used a prospective anonymous questionnaire to survey 176 prenatal and pediatric genetic counselors. Greater than 70% of pediatric respondents and \u3e80% of prenatal respondents were somewhat or extremely comfortable counseling patients about SCAs. However, prenatal respondents in the field for45,X (p88%) and anatomy ultrasound (~90%), but the percent consistently offering maternal karyotype (22-52%) and postnatal evaluation (28-87%) varied. Maternal karyotype was offered more often when NIPT was positive for 45,X or 47,XXX and patients had normal diagnostic testing (p72%) but the percent offering maternal karyotype (6-46%) varied widely. With the current inconsistencies, many newborns with undiagnosed SCAs who could benefit from growth hormone therapy, early intervention, and/or targeted surveillance may be missed. There is a need for professional guidelines to help improve clinical care for patients with NIPT results positive for SCAs

Density Properties of Sets

Dr. H. L. Smith in a paper which has not been published as yet 3hows that by starting with a general function satisfying Caratheoacry\u27s first two postulates on an outer measure function, it is possible to construct a function which satisfies all four postulates. In this dissertation we have stuuied some of the characteristics o of this.function, principally those which are of use in deriving our‘theorems on density. We have set up three general density functions, and nave succeeded in showing- tnat for the most general of these, it is true thac the Smith measure of the set at which the upper density is less tnan 1, and the one at which the lower density is greater than 1, is zero. We have also established tnat under certain circumstances there is a definite relation between this function and the density function defined by Besicovitch. Considerable attention nas been devotee to certain fundamental geometric theorems, which have led us to a generalized form of tne Vitali tneorem. We have also uerived a set of sufficient conditions for the validity of this theorem, including the one for the Smith function

Sub-pm/Hz\mathrm{\mathbf{\sqrt{\rm Hz}}} non-reciprocal noise in the LISA backlink fiber

The future space-based gravitational wave detector Laser Interferometer Space Antenna (LISA) requires bidirectional exchange of light between its two optical benches on board of each of its three satellites. The current baseline foresees a polarization-maintaining single-mode fiber for this backlink connection. Phase changes which are common in both directions do not enter the science measurement, but differential ("non-reciprocal") phase fluctuations directly do and must thus be guaranteed to be small enough. We have built a setup consisting of a Zerodur$^{\rm TM}$ baseplate with fused silica components attached to it using hydroxide-catalysis bonding and demonstrated the reciprocity of a polarization-maintaining single-mode fiber at the 1 pm/$\sqrt{\textrm{Hz}}$ level as is required for LISA. We used balanced detection to reduce the influence of parasitic optical beams on the reciprocity measurement and a fiber length stabilization to avoid nonlinear effects in our phase measurement system (phase meter). For LISA, a different phase meter is planned to be used that does not show this nonlinearity. We corrected the influence of beam angle changes and temperature changes on the reciprocity measurement in post-processing

Interferometry for a space-based gravitational wave observatory : reciprocity of an optical fiber

[no abstract

Energetic efficiency of infant formulae: a review

Breast-fed and formula-fed infants differ in terms of nutrient intake, growth, and metabolic and endocrine responses. The energetic efficiency, i.e. the weight or length gain per 100 kcal of energy intake, of breast-fed infants is about 11% higher than the energetic efficiency of formula-fed infants. Only limited data is available on the influence of formula composition on the energetic efficiency of infant formulae. We conducted a review of controlled trials to identify the impact of the macronutrient composition of infant formulae on energetic efficiency. An electronic literature search was conducted in February 2014. Intervention trials that investigated the effect of an infant formula with a modified macronutrient composition and reported the weight, length, and nutritional intake of apparently healthy, term, fully formula-fed infants with a normal weight were included. Thirteen trials met the inclusion criteria. The results showed no effect of the total content of energy, carbohydrate, protein, or fat on energetic efficiency. In contrast, small increasing effects of higher glycemic carbohydrates on energetic efficiency were identified. Improved fat absorption via the use of palmitic acid at the sn-2 ester position of triacylglycerol increased the energetic efficiency by 11%. The quality of formula protein, specifically an increased whey-to-casein ratio, an increased α-lactalbumin content, or a higher tryptophan content increased the energetic efficiency by about 13%. We conclude that fat absorption and protein quality have the potential to modulate energetic efficiency and may contribute to the observed differences in growth and metabolism between breast-fed and formula-fed infants.</jats:p

Components for the LISA local interferometry

This article describes some preliminary results on essential components for the LISA interferometry, namely photodiode preamplifiers and voltage references

Phospholipid Species in Newborn and 4 Month Old Infants after Consumption of Different Formulas or Breast Milk

INTRODUCTION:Arachidonic acid (AA) and docosahexaenoic acid (DHA) are important long-chain polyunsaturated fatty acids for neuronal and cognitive development and are ingredients of infant formulae that are recommended but there is no evidence based minimal supplementation level available. The aim of this analysis was to investigate the effect of supplemented AA and DHA on phospholipid metabolism. METHODS:Plasma samples of a randomized, double-blind infant feeding trial were used for the analyses of phospholipid species by flow-injection mass spectrometry. Healthy term infants consumed isoenergetic formulae (intervention formula with equal amounts of AA and DHA-IF, control formula without additional AA and DHA-CF) from the first month of life until the age of 120 days. A group of breast milk (BM) -fed infants was followed as a reference. RESULTS:The plasma profile detected in newborns was different from 4 month old infants, irrespective of study group. Most relevant changes were seen in higher level of LPC16:1, LPC20:4, PC32:1, PC34:1 and PC36:4 and lower level of LPC18:0, LPC18:2, PC32:2, PC36:2 and several ether-linked phosphatidylcholines in newborns. The sum of all AA and DHA species at 4 month old infants in the CF group showed level of 40% (AA) and 51% (DHA) of newborns. The supplemented amount of DHA resulted in phospholipid level comparable to BM infants, but AA phospholipids were lower than in BM infants. Interestingly, relative contribution of DHA was higher in ether-linked phosphatidylcholines in CF fed infants, but IF and BM fed infants showed higher overall ether-linked phosphatidylcholines levels. CONCLUSION:In conclusion, we have shown that infant plasma phospholipid profile changes remarkably from newborn over time and is dependent on the dietary fatty acid composition. A supplementation of an infant formula with AA and DHA resulted in increased related phospholipid species

Distribution of SiO2 nanoparticles in 3D liver microtissues

Introduction: Nanoparticles (NPs) are used in numerous products in technical fields and biomedicine; their potential adverse effects have to be considered in order to achieve safe applications. Besides their distribution in tissues, organs, and cellular localization, their impact and penetration during the process of tissue formation occurring in vivo during liver regeneration are critical steps for establishment of safe nanomaterials. Materials and methods: In this study, 3D cell culture of human hepatocarcinoma cells (HepG2) was used to generate cellular spheroids, serving as in vitro liver microtissues. In order to determine their differential distribution and penetration depth in HepG2 spheroids, SiO2 NPs were applied either during or after spheroid formation. The NP penetration was comprehensively studied using confocal laser scanning microscopy and scanning electron microscopy. Results: Spheroids were exposed to 100 µg mL-1 SiO2 NPs either at the beginning of spheroid formation, or during or after formation of spheroids. Microscopy analyses revealed that NP penetration into the spheroid is limited. During and after spheroid formation, SiO2 NPs penetrated about 20 µm into the spheroids, corresponding to about three cell layers. In contrast, because of the addition of SiO2 NPs simultaneously to cell seeding, NP agglomerates were located also in the spheroid center. Application of SiO2 NPs during the process of spheroid formation had no impact on final spheroid size. Conclusion: Understanding the distribution of NPs in tissues is essential for biomedical applications. The obtained results indicate that NPs show only limited penetration into already formed tissue, which is probably caused by the alteration of the tissue structure and cell packing density during the process of spheroid formation

Tapping the Full Potential? Jumping Performance of Volleyball Athletes in Game-Like Situations

Background: One key issue in elite interactive team sports is the simultaneous execution of motor actions (e.g., dribbling a ball) and perceptual-cognitive tasks (e.g., visually scanning the environment for action choices). In volleyball, one typical situation is to prepare and execute maximal block jumps after multiple-options decision-making and concurrent visual tracking of the ongoing game dynamics to find an optimal blocking location. Based on resource-related dual- and multi-tasking theories simultaneous execution of visual-cognitive and motor tasks may interfere with each other. Therefore, the aim of this study was to investigate whether volleyball-specific perceptual-cognitive demands (i.e., divided attention, decision making) affect blocking performance (i.e., jumping performance and length of the first step after the ready-block-position) compared to relatively isolated jumping performance.Methods: Twenty-two elite volleyball players (1st – 3rd German league) performed block jumps in front of a net construction in a single-task condition (ST) and in two perceptual (-cognitive) dual-task conditions including a dual-task low (DT_L; presenting a picture of an opponent attack on a screen) and a dual-task high condition (DT_H; presenting videos of an offensive volleyball set play with a two-alternative choice).Results: The results of repeated-measures ANOVAs showed a significant effect of conditions on jumping performance [F(2,42) = 33.64, p &lt; 0.001, ηp2 = 0.62] and on the length of the first step after the ready-block-position [F(2,42) = 7.90, p = 0.001, ηp2 = 0.27). Post hoc comparisons showed that jumping performance in DT_H (p &lt; 0.001) and DT_L (p &lt; 0.001) was significantly lower than in ST. Also, length of the first step after the ready-block-position in DT_H (p = 0.005) and DT_L (p = 0.028) was significantly shorter than in ST.Conclusion: Our findings suggest that blocking performance (i.e., jumping height, length of the first step) decreases in elite volleyball players when a perceptual (-cognitive) load is added. Based on the theory of Wickens (2002), this suggests a resource overlap between visual-processing demands for motor performance and for tracking the dynamics of the game. Interference with the consequence of dual-task related performance costs can therefore also be found in elite athletes in their specific motor expert domain