Detailed Retinal Imaging In Carriers Of Ocular Albinism

BACKGROUND: Albinism refers to a group of disorders primarily characterized by hypopigmentation. Affected individuals usually manifest both ocular and cutaneous features of the disease, but occasionally hair and skin pigmentation may appear normal. This is the case in ocular albinism, an X chromosome linked disorder resulting from mutation of GPR143. Female carriers may be recognized by a "mud-splatter" appearance in the peripheral retina. The macula is thought to be normal, however. METHODS: Obligate female carriers of pathogenic GPR143 alleles were recruited. Molecular confirmation of disease was performed only for atypical cases. Detailed retinal imaging was performed (colour fundus photography, optical coherence tomography, fundus autofluorescence. RESULTS: Eight individuals were ascertained. A novel GPR143 mutation was identified in one family (p.Gln328Ter). Foveal fundus autofluorescence was subjectively reduced in 6/6 patients imaged. A "tapetal-like" pattern of autofluorescence was visible at the macula in 3/6. Persistence of the inner retinal layers at the fovea was observed in 6/8 females. CONCLUSION: Female carriers of ocular albinism may manifest signs of retinal pigment epithelium mosaicism at the macula and the peripheral fundus. A tapetal-like reflex on fundus autofluorescence may be considered the macular correlate of "mud-splatter.

Local Detection of Quantum Correlations with a Single Trapped Ion

As one of the most striking features of quantum mechanics, quantum correlations are at the heart of quantum information science. Detection of correlations usually requires access to all the correlated subsystems. However, in many realistic scenarios this is not feasible since only some of the subsystems can be controlled and measured. Such cases can be treated as open quantum systems interacting with an inaccessible environment. Initial system-environment correlations play a fundamental role for the dynamics of open quantum systems. Following a recent proposal, we exploit the impact of the correlations on the open-system dynamics to detect system-environment quantum correlations without accessing the environment. We use two degrees of freedom of a trapped ion to model an open system and its environment. The present method does not require any assumptions about the environment, the interaction or the initial state and therefore provides a versatile tool for the study of quantum systems.Comment: 6 Pages, 5 Figures + 6 Pages, 1 Figure of Supplementary Materia

Interleukin-6 gene (IL-6): a possible role in brain morphology in the healthy adult brain

Background: Cytokines such as interleukin 6 (IL-6) have been implicated in dual functions in neuropsychiatric disorders. Little is known about the genetic predisposition to neurodegenerative and neuroproliferative properties of cytokine genes. In this study the potential dual role of several IL-6 polymorphisms in brain morphology is investigated. Methodology: In a large sample of healthy individuals (N = 303), associations between genetic variants of IL-6 (rs1800795; rs1800796, rs2069833, rs2069840) and brain volume (gray matter volume) were analyzed using voxel-based morphometry (VBM). Selection of single nucleotide polymorphisms (SNPs) followed a tagging SNP approach (e.g., Stampa algorigthm), yielding a capture 97.08% of the variation in the IL-6 gene using four tagging SNPs. Principal findings/results: In a whole-brain analysis, the polymorphism rs1800795 (−174 C/G) showed a strong main effect of genotype (43 CC vs. 150 CG vs. 100 GG; x = 24, y = −10, z = −15; F(2,286) = 8.54, puncorrected = 0.0002; pAlphaSim-corrected = 0.002; cluster size k = 577) within the right hippocampus head. Homozygous carriers of the G-allele had significantly larger hippocampus gray matter volumes compared to heterozygous subjects. None of the other investigated SNPs showed a significant association with grey matter volume in whole-brain analyses. Conclusions/significance: These findings suggest a possible neuroprotective role of the G-allele of the SNP rs1800795 on hippocampal volumes. Studies on the role of this SNP in psychiatric populations and especially in those with an affected hippocampus (e.g., by maltreatment, stress) are warranted.Bernhard T Baune, Carsten Konrad, Dominik Grotegerd, Thomas Suslow, Eva Birosova, Patricia Ohrmann, Jochen Bauer, Volker Arolt, Walter Heindel, Katharina Domschke, Sonja Schöning, Astrid V Rauch, Christina Uhlmann, Harald Kugel and Udo Dannlowsk

Using a Powered Bone Marrow Biopsy System Results in Shorter Procedures, Causes Less Residual Pain to Adult Patients, and Yields Larger Specimens

<p>Abstract</p> <p>Background</p> <p>In recent years, a battery-powered bone marrow biopsy system was developed and cleared by the U.S. Food and Drug Administration to allow health care providers to access the bone marrow space quickly and efficiently. A multicenter randomized clinical trial was designed for adult patients to determine if the powered device had advantages over traditional manually-inserted needles in regard to length of procedure, patient pain, complications, user satisfaction, and pathological analysis of the specimens.</p> <p>Methods</p> <p>Adult patients requiring marrow sampling procedures were randomized for a Manual or Powered device. Visual Analog Scale (VAS) pain scores were captured immediately following the procedure and 1 and 7 days later. Procedure time was measured and core specimens were submitted to pathology for grading.</p> <p>Results</p> <p>Ten sites enrolled 102 patients into the study (Powered, n = 52; Manual, n = 50). Mean VAS scores for overall procedural pain were not significantly different between the arms (3.8 ± 2.8 for Powered, 3.5 ± 2.3 for Manual [p = 0.623]). A day later, more patients who underwent the Powered procedure were pain-free (67%) than those patients in the Manual group (33%; p = 0.003). One week later, there was no difference (83% for Powered patients; 76% for Manual patients.) Mean procedure time was 102.1 ± 86.4 seconds for the Powered group and 203.1 ± 149.5 seconds for the Manual group (p < 0.001). Pathology assessment was similar in specimen quality, but there was a significant difference in the specimen volume between the devices (Powered: 36.8 ± 21.2 mm³; Manual: 20.4 ± 9.0 mm³; p = 0.039). Two non-serious complications were experienced during Powered procedures (4%); but none during Manual procedures (p = 0.495).</p> <p>Conclusions</p> <p>The results of this first trial provide evidence that the Powered device delivers larger-volume bone marrow specimens for pathology evaluation. In addition, bone marrow specimens were secured more rapidly and subjects experienced less intermediate term pain when the Powered device was employed. Further study is needed to determine if clinicians more experienced with the Powered device will be able to use it in a manner that significantly reduces needle insertion pain; and to compare a larger sample of pathology specimens obtained using the Powered device to those obtained using traditional manual biopsy needles.</p

The Formation of the First Massive Black Holes

Supermassive black holes (SMBHs) are common in local galactic nuclei, and SMBHs as massive as several billion solar masses already exist at redshift z=6. These earliest SMBHs may grow by the combination of radiation-pressure-limited accretion and mergers of stellar-mass seed BHs, left behind by the first generation of metal-free stars, or may be formed by more rapid direct collapse of gas in rare special environments where dense gas can accumulate without first fragmenting into stars. This chapter offers a review of these two competing scenarios, as well as some more exotic alternative ideas. It also briefly discusses how the different models may be distinguished in the future by observations with JWST, (e)LISA and other instruments.Comment: 47 pages with 306 references; this review is a chapter in "The First Galaxies - Theoretical Predictions and Observational Clues", Springer Astrophysics and Space Science Library, Eds. T. Wiklind, V. Bromm & B. Mobasher, in pres

The Formation and Evolution of the First Massive Black Holes

The first massive astrophysical black holes likely formed at high redshifts (z>10) at the centers of low mass (~10^6 Msun) dark matter concentrations. These black holes grow by mergers and gas accretion, evolve into the population of bright quasars observed at lower redshifts, and eventually leave the supermassive black hole remnants that are ubiquitous at the centers of galaxies in the nearby universe. The astrophysical processes responsible for the formation of the earliest seed black holes are poorly understood. The purpose of this review is threefold: (1) to describe theoretical expectations for the formation and growth of the earliest black holes within the general paradigm of hierarchical cold dark matter cosmologies, (2) to summarize several relevant recent observations that have implications for the formation of the earliest black holes, and (3) to look into the future and assess the power of forthcoming observations to probe the physics of the first active galactic nuclei.Comment: 39 pages, review for "Supermassive Black Holes in the Distant Universe", Ed. A. J. Barger, Kluwer Academic Publisher

Comparison of dissolved and particulate arsenic distributions in shallow aquifers of Chakdaha, India, and Araihazar, Bangladesh

International audienceBackground The origin of the spatial variability of dissolved As concentrations in shallow aquifers of the Bengal Basin remains poorly understood. To address this, we compare here transects of simultaneously-collected groundwater and aquifer solids perpendicular to the banks of the Hooghly River in Chakdaha, India, and the Old Brahmaputra River in Araihazar, Bangladesh. Results Variations in surface geomorphology mapped by electromagnetic conductivity indicate that permeable sandy soils are associated with underlying aquifers that are moderately reducing to a depth of 10–30 m, as indicated by acid-leachable Fe(II)/Fe ratios 5 mg L-1. More reducing aquifers are typically capped with finer-grained soils. The patterns suggest that vertical recharge through permeable soils is associated with a flux of oxidants on the banks of the Hooghly River and, further inland, in both Chakdaha and Araihazar. Moderately reducing conditions maintained by local recharge are generally associated with low As concentrations in Araihazar, but not systematically so in Chakdaha. Unlike Araihazar, there is also little correspondence in Chakdaha between dissolved As concentrations in groundwater and the P-extractable As content of aquifer particles, averaging 191 ± 122 ug As/L, 1.1 ± 1.5 mg As kg-1 (n = 43) and 108 ± 31 ug As/L, 3.1 ± 6.5 mg As kg-1 (n = 60), respectively. We tentatively attribute these differences to a combination of younger floodplain sediments, and therefore possibly more than one mechanism of As release, as well as less reducing conditions in Chakdaha compared to Araihazar. Conclusion Systematic dating of groundwater and sediment, combined with detailed mapping of the composition of aquifer solids and groundwater, will be needed to identify the various mechanisms underlying the complex distribution of As in aquifers of the Bengal Basin

Annual Incidence of Snake Bite in Rural Bangladesh

Snake bite is one of the major causes of morbidity and mortality in many rural tropical areas. As a neglected public health problem, estimate of the risk is largely unknown. However, the associated personal and economic impact of snake bite is substantial across developing countries. This national survey investigated the risk and consequences of snake bite among the rural Bangladeshi population. We surveyed 18857 individuals from 24 out of 64 districts in Bangladesh where 98 snake bites including one death were reported. The estimated incidence density of snake bite is 623.4/ 100,000 person years (95% CI: 513.4–789.2/100,000 person years). Biting occurs mostly when individuals are at work. The majority of the victims (71%) received snake bites to their lower extremities. Eighty-six percent of the victims received some form of management within two hours of snake bite, although only three percent of them went directly to either a medical doctor or a hospital. The observed rate of snake bite in rural Bangladesh is substantially higher than anticipated. This coupled with poor access to health services led to an increase in related morbidity and mortality. An improvement in public health actions is therefore warranted