A mild case of acromesomelic dysplasia, type Maroteaux with novel natriuretic peptide receptor B (NPR2) variants

Acromesomelic dysplasia, type Maroteaux is caused by variants in NPR2. It is a severe chondrodysplasia resulting in shortening of the middle and distal segments of the limbs. Limb length at birth may be normal but decreased growth becomes obvious in the first 2 years of life. Here we present an 11-year-old male with mild but typical skeletal features of acromesomelic dysplasia, type Maroteaux. Whole exome sequencing has identified two likely pathogenic variants in NPR2 which have not previously been reported in individuals with acromesomelic dysplasia, type Maroteaux. Given these findings, a diagnosis of AMDM should be considered in individuals with characteristic radiological findings, even if stature is only modestly affected

Quantum Fluctuations in the Chirped Pendulum

An anharmonic oscillator when driven with a fast, frequency chirped voltage pulse can oscillate with either small or large amplitude depending on whether the drive voltage is below or above a critical value-a well studied classical phenomenon known as autoresonance. Using a 6 GHz superconducting resonator embedded with a Josephson tunnel junction, we have studied for the first time the role of noise in this non-equilibrium system and find that the width of the threshold for capture into autoresonance decreases as the square root of T, and saturates below 150 mK due to zero point motion of the oscillator. This unique scaling results from the non-equilibrium excitation where fluctuations, both quantum and classical, only determine the initial oscillator motion and not its subsequent dynamics. We have investigated this paradigm in an electrical circuit but our findings are applicable to all out of equilibrium nonlinear oscillators.Comment: 5 pages, 4 figure

Dynamical Coupling between a Bose-Einstein Condensate and a Cavity Optical Lattice

A Bose-Einstein condensate is dispersively coupled to a single mode of an ultra-high finesse optical cavity. The system is governed by strong interactions between the atomic motion and the light field even at the level of single quanta. While coherently pumping the cavity mode the condensate is subject to the cavity optical lattice potential whose depth depends nonlinearly on the atomic density distribution. We observe bistability already below the single photon level and strong back-action dynamics which tunes the system periodically out of resonance.Comment: 5 pages, 4 figure

Melatonin as an antioxidant and its semi-lunar rhythm in green macroalga Ulva sp.

The presence and role of melatonin in plants are still under debate owing to difficulties of identification and quantification. Accordingly, although it has been frequently proposed that melatonin acts as an antioxidant in phototrophic organisms, experimental data on its physiological role are scarce. This study describes the use of a rapid and simple new method for quantification of melatonin in the marine macroalga Ulva sp., organisms routinely exposed to tide-related environmental stresses and known for their high tolerance to abiotic conditions. The method was used here to show that exposure to oxidative stress-inducing environmental conditions (elevated temperature and heavy metals) induced a rise in melatonin level in the algae. Addition of exogenous melatonin alleviated the algae from cadmium-induced stress. Interestingly, although the algae were taken from a culture growing free floating and kept under constant photoperiod and water level, they exhibited a semi-lunar rhythm of melatonin levels that correlated with predicted spring tides. The correlation can probably be interpreted as reflecting preparation for predicted low tides, when the algae are exposed to increasing temperature, desiccation, and salinity, all known to induce oxidative stress. Given the simplicity of the described method it can easily be adapted for the study of melatonin in many other phototrophic organisms. These results provide, for the first time, experimental data that support both an antioxidant role for melatonin and its semi-lunar rhythm in macroalgae

Radiation damping optical enhancement in cold atoms

This work is licensed under the Creative Commons Attribution-NonCommercial-No Derivative Works 3.0 Unported License. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-nd/3.0/Open Access journalThe typically tiny effect of radiation damping on a moving body can be amplified to a favorable extent by exploiting the sharp reflectivity slope at one edge of an optically induced stop-band in atoms loaded into an optical lattice. In this paper, this phenomenon is demonstrated for the periodically trapped and coherently driven cold 87Rb atoms, where radiation damping might be much larger than that anticipated in previous proposals and become comparable with radiation pressure. Such an enhancement could be observed even at speeds of only a few meters per second with less than 1.0% absorption, making radiation damping experimentally accessible

Syndromic (phenotypic) diarrhea in early infancy

Syndromic diarrhea (SD), also known as phenotypic diarrhea (PD) or tricho-hepato-enteric syndrome (THE), is a congenital enteropathy presenting with early-onset of severe diarrhea requiring parenteral nutrition (PN). To date, no epidemiological data are available. The estimated prevalence is approximately 1/300,000–400,000 live births in Western Europe. Ethnic origin does not appear to be associated with SD. Infants are born small for gestational age and present with facial dysmorphism including prominent forehead and cheeks, broad nasal root and hypertelorism. Hairs are woolly, easily removed and poorly pigmented. Severe and persistent diarrhea starts within the first 6 months of life (≤ 1 month in most cases) and is accompanied by severe malabsorption leading to early and relentless protein energy malnutrition with failure to thrive. Liver disease affects about half of patients with extensive fibrosis or cirrhosis. There is currently no specific biochemical profile, though a functional T-cell immune deficiency with defective antibody production was reported. Microscopic analysis of the hair show twisted hair (pili torti), aniso- and poilkilotrichosis, and trichorrhexis nodosa. Histopathological analysis of small intestine biopsy shows non-specific villous atrophy with low or no mononuclear cell infiltration of the lamina propria, and no specific histological abnormalities involving the epithelium. The etiology remains unknown. The frequent association of the disorder with parental consanguinity and/or affected siblings suggests a genetic origin with an autosomal recessive mode of transmission. Early management consists of total PN. Some infants have a rather milder phenotype with partial PN dependency or require only enteral feeding. Prognosis of this syndrome is poor, but most patients now survive, and about half of the patients may be weaned from PN at adolescence, but experience failure to thrive and final short stature

Influence of the Water Content on the Diffusion Coefficients of Li⁺ and Water across Naphthalenic Based Copolyimide Cation-Exchange Membranes

The transport of lithium ions in cation-exchange membranes based on sulfonated copolyimide membranes is reported. Diffusion coefficients of lithium are estimated as a function of the water content in membranes by using pulsed field gradient (PFG) NMR and electrical conductivity techniques. It is found that the lithium transport slightly decreases with the diminution of water for membranes with water content lying in the range 14 < λ < 26.5, where λ is the number of molecules of water per fixed sulfonate group. For λ < 14, the value of the diffusion coefficient of lithium experiences a sharp decay with the reduction of water in the membranes. The dependence of the diffusion of lithium on the humidity of the membranes calculated from conductivity data using Nernst–Planck type equations follows a trend similar to that observed by NMR. The possible explanation of the fact that the Haven ratio is higher than the unit is discussed. The diffusion of water estimated by 1H PFG-NMR in membranes neutralized with lithium decreases as λ decreases, but the drop is sharper in the region where the decrease of the diffusion of protons of water also undergoes considerable reduction. The diffusion of lithium ions computed by full molecular dynamics is similar to that estimated by NMR. However, for membranes with medium and low concentration of water, steady state conditions are not reached in the computations and the diffusion coefficients obtained by MD simulation techniques are overestimated. The curves depicting the variation of the diffusion coefficient of water estimated by NMR and full dynamics follow parallel trends, though the values of the diffusion coefficient in the latter case are somewhat higher. The WAXS diffractograms of fully hydrated membranes exhibit the ionomer peak at q = 2.8 nm⁻1, the peak being shifted to higher q as the water content of the membranes decreases. The diffractograms present additional peaks at higher q, common to wet and dry membranes, but the peaks are better resolved in the wet membranes. The ionomer peak is not detected in the diffractograms of dry membranes.The authors acknowledge financial support provided by the DGICYT (Dirección General de Investigación Cientifíca y Tecnológica) through Grant MAT2011-29174-C02-02

NKX2-3 Transcriptional Regulation of Endothelin-1 and VEGF Signaling in Human Intestinal Microvascular Endothelial Cells

BACKGROUND: NKX2-3 is associated with inflammatory bowel disease (IBD). NKX2-3 is expressed in microvascular endothelial cells and the muscularis mucosa of the gastrointestinal tract. Human intestinal microvascular endothelial cells (HIMECs) are actively involved in the pathogenesis of IBD and IBD-associated microvascular dysfunction. To understand the cellular function of NKX2-3 and its potential role underlying IBD pathogenesis, we investigated the genes regulated by NKX2-3 in HIMEC using cDNA microarray. METHODOLOGY/PRINCIPAL FINDINGS: NKX2-3 expression was suppressed by shRNA in two HIMEC lines and gene expression was profiled by cDNA microarray. Pathway Analysis was used to identify gene networks according to biological functions and associated pathways. Validation of microarray and genes expression in intestinal tissues was assessed by RT-PCR. NKX2-3 regulated genes are involved in immune and inflammatory response, cell proliferation and growth, metabolic process, and angiogenesis. Several inflammation and angiogenesis related signaling pathways that play important roles in IBD were regulated by NKX2-3, including endothelin-1 and VEGF-PI3K/AKT-eNOS. Expression levels of NKX2-3, VEGFA, PI3K, AKT, and eNOS are increased in intestinal tissues from IBD patients and expression levels of EDN1 are decreased in intestinal tissues from IBD patients. These results demonstrated the important roles of NKX2-3, VEGF, PI3K, AKT, eNOS, and EDN1 in IBD pathogenesis. Correlation analysis showed a positive correlation between mRNA expression of NKX2-3 and VEGFA and a negative correlation between mRNA expression of NKX2-3 and EDN1 in intestinal tissues from IBD patients. CONCLUSION/RELEVANCE: NKX2-3 may play an important role in IBD pathogenesis by regulating endothelin-1 and VEGF signaling in HIMECs

Blended foods for tube-fed children: a safe and realistic option? A rapid review of the evidence

With the growing number of children and young people with complex care needs or life-limiting conditions, alternative routes for nutrition have been established (such as gastrostomy feeding). The conditions of children and young people who require such feeding are diverse but could relate to problems with swallowing (dysphagia), digestive disorders or neurological/muscular disorders. However, the use of a blended diet as an alternative to prescribed formula feeds for children fed via a gastrostomy is a contentious issue for clinicians and researchers. From a rapid review of the literature, we identify that current evidence falls into three categories: (1) those who feel that the use of a blended diet is unsafe and substandard; (2) those who see benefits of such a diet as an alternative in particular circumstances (eg, to reduce constipation) and (3) those who see merit in the blended diet but are cautious to proclaim potential benefits due to the lack of clinical research. There may be some benefits to using blended diets, although concerns around safety, nutrition and practical issues remain