44 research outputs found

    Does idiopathic congenital talipes equinovarus have an impact on attainment of developmental milestones? A multicentre international study.

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    Purpose: The Ponseti method is a well-established approach to treating clubfoot. Potentially, both the underlying pathology and adherence to post-correction bracing can affect lower limb function and age of independent standing and walking. This cohort study investigates the age at which infants with idiopathic clubfoot treated using the Ponseti method achieved three selected developmental milestones and whether or not this correlated with treatment compliance. Methods: A prospectively collected database from four centres was visited. Inclusion criteria were patients with idiopathic clubfoot with no comorbidities or prior treatment. Age at attainment of independent standing, walking, nocturnal continence was compared across three groups: I) congenital talipes equinovarus (CTEV) children compliant with treatment; II) CTEV children non-compliant with treatment; and III) typically-developed siblings. Minimum follow-up was five years. Results: In all, 130 patients (198 feet) fitted the inclusion criteria: 43:87 (F:M). Standing was achieved by a mean 12.0 months in group I (sd 2.50); 12.0 months (sd 2.0) in II and ten months (sd 3.0) in III. Walking was achieved by a mean 15 months (sd 4.0) in group I, 14 months (sd 1.75) in II and 12 months (sd 3) in III, respectively. Both the compliant and non-compliant CTEV children were significantly slower at achieving standing and walking compared to sibling controls (p < 0.0001). There was no significant difference between age of nocturnal continence between the three groups. Conclusion: Infants with idiopathic clubfoot treated according to the Ponseti method achieve independent standing and walking approximately two months later than their typically-developed siblings. The delay is not related to the use of the foot abduction brace. Level of evidence: III

    Mass measurements of As, Se and Br nuclei and their implication on the proton-neutron interaction strength towards the N=Z line

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    Mass measurements of the nuclides 69As, 70,71Se, and 71Br, produced via fragmentation of a 124Xe primary beam at the Fragment Separator (FRS) at GSI, have been performed with the multiple-reflection time-of-flight mass spectrometer (MR-TOF-MS) of the FRS Ion Catcher with an unprecedented mass resolving power of almost 1000000. Such high resolving power is the only way to achieve accurate results and resolve overlapping peaks of short-lived exotic nuclei, whose total number of accumulated events is always limited. For the nuclide 69As, this is the first direct mass measurement. A mass uncertainty of 22 keV was achieved with only ten events. For the nuclide 70Se, a mass uncertainty of 2.6 keV was obtained, corresponding to a relative accuracy of ÎŽm/m=4.0×10−8, with less than 500 events. The masses of the nuclides 71Se and 71Br have been measured with an uncertainty of 23 and 16 keV, respectively. Our results for the nuclides 70,71Se and 71Br are in good agreement with the 2016 Atomic Mass Evaluation, and our result for the nuclide 69As resolves the discrepancy between the previous indirect measurements. We measured also the mass of the molecule 14N15N40Ar (A=69) with a relative accuracy of ÎŽm/m=1.7×10−8, the highest yet achieved with an MR-TOF-MS. Our results show that the measured restrengthening of the proton-neutron interaction (ÎŽVpn) for odd-odd nuclei along the N=Z line above Z=29 (recently extended to Z=37) is hardly evident at the N−Z=2 line, and not evident at the N−Z=4 line. Nevertheless, detailed structure of ÎŽVpn along the N−Z=2 and N−Z=4 lines, confirmed by our mass measurements, may provide a hint regarding the ongoing ≈500 keV discrepancy in the mass value of the nuclide 70Br, which prevents including it in the world average of Ft value for superallowed 0+→0+ÎČ decays. The reported work sets the stage for mass measurements with the FRS Ion Catcher of nuclei at and beyond the N=Z line in the same region of the nuclear chart, including the nuclide 70Br.peerReviewe

    Dynamic regulation of the transcription initiation landscape at single nucleotide resolution during vertebrate embryogenesis

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    Spatiotemporal control of gene expression is central to animal development. Core promoters represent a previously unanticipated regulatory level by interacting with cis-regulatory elements and transcription initiation in different physiological and developmental contexts. Here, we provide a first and comprehensive description of the core promoter repertoire and its dynamic use during the development of a vertebrate embryo. By using cap analysis of gene expression (CAGE), we mapped transcription initiation events at single nucleotide resolution across 12 stages of zebrafish development. These CAGE-based transcriptome maps reveal genome-wide rules of core promoter usage, structure, and dynamics, key to understanding the control of gene regulation during vertebrate ontogeny. They revealed the existence of multiple classes of pervasive intra- and intergenic post-transcriptionally processed RNA products and their developmental dynamics. Among these RNAs, we report splice donor site-associated intronicRNA(sRNA) to be specific to genes of the splicing machinery. For the identification of conserved features, we compared the zebrafish data sets to the first CAGE promoter map of Tetraodon and the existing human CAGE data. We show that a number of features, such as promoter type, newly discovered promoter properties such as a specialized purine-rich initiator motif, as well as sRNAs and the genes in which they are detected, are conserved in mammalian and Tetraodon CAGE-defined promoter maps. The zebrafish developmental promoterome represents a powerful resource for studying developmental gene regulation and revealing promoter features shared across vertebrates

    Nuclear astrophysics with radioactive ions at FAIR

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    The nucleosynthesis of elements beyond iron is dominated by neutron captures in the s and r processes. However, 32 stable, proton-rich isotopes cannot be formed during those processes, because they are shielded from the s-process flow and r-process, ÎČ-decay chains. These nuclei are attributed to the p and rp process. For all those processes, current research in nuclear astrophysics addresses the need for more precise reaction data involving radioactive isotopes. Depending on the particular reaction, direct or inverse kinematics, forward or time-reversed direction are investigated to determine or at least to constrain the desired reaction cross sections. The Facility for Antiproton and Ion Research (FAIR) will offer unique, unprecedented opportunities to investigate many of the important reactions. The high yield of radioactive isotopes, even far away from the valley of stability, allows the investigation of isotopes involved in processes as exotic as the r or rp processes

    Dawning of the N=32 shell closure seen through precision mass measurements of neutron-rich titanium isotopes

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    A precision mass investigation of the neutron-rich titanium isotopes 51−55^{51-55}Ti was performed at TRIUMF's Ion Trap for Atomic and Nuclear science (TITAN). The range of the measurements covers the N=32N=32 shell closure and the overall uncertainties of the 52−55^{52-55}Ti mass values were significantly reduced. Our results confirm the existence of a weak shell effect at N=32N=32, establishing the abrupt onset of this shell closure. Our data were compared with state-of-the-art \textit{ab-initio} shell model calculations which, despite very successfully describing where the N=32N=32 shell gap is strong, overpredict its strength and extent in titanium and heavier isotones. These measurements also represent the first scientific results of TITAN using the newly commissioned Multiple-Reflection Time-of-Flight Mass Spectrometer (MR-TOF-MS), substantiated by independent measurements from TITAN's Penning trap mass spectrometer
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