Human genetics and didactic transposition: the expression of skin color, eye color, and height in Brazilian and Portuguese textbooks

The knowledge produced by genetic science is constantly expanding. However, the “taught knowledge” is not just a simplification of the knowledge produced by science, since it is also a result of values and practices. The objective of this study is to analyze how some examples of the expression of human characteristics in school textbooks approximate or deviate from reference knowledge found in literature. Secondary school textbooks were analyzed: six Brazilian collections and three Portuguese collections. Three topics were analyzed (skin color, eye color and height) and data were compared to scientific reference literature concerning these topics, which was composed of recent scientific papers and teacher training reference books. This analysis used the methodology developed in previous studies by Franzolin (2012) on “categories of types” and “categories of implications” and the KVP model (Clément, 2006). This study shows that most textbooks are close to the reference literature in mentioning the polygenic determination of the analyzed characteristics (skin color, eye color and height) and the influence of the environment in the expression of these characteristics. Textbooks which deviate from reference literature may cause barriers to the central content understanding. In the Portuguese context, it was evident that the practice of adopting new topics in the curriculum lead to the elimination of such information, not valued in official curriculum documents.CIEC – Research Centre on Child Studies, IE, UMinho (FCT R&D unit 317), PortugalNational Funds through the FCT (Foundation for Science and Technology) and co-financed by European Regional Development Funds (FEDER) through the Competitiveness and Internationalization Operational Program (POCI) with the reference POCI-01-0145-FEDER-007562info:eu-repo/semantics/publishedVersio

Bardet-Biedl Syndrome ciliopathy is linked to altered hematopoiesis and dysregulated self-tolerance

Bardet–Biedl Syndrome (BBS) is a pleiotropic genetic disease caused by the dysfunction of primary cilia. The immune system of patients with ciliopathies has not been investigated. However, there are multiple indications that the impairment of the processes typically associated with cilia may have influence on the hematopoietic compartment and immunity. In this study, we analyze clinical data of BBS patients and corresponding mouse models carrying mutations in Bbs4 or Bbs18. We find that BBS patients have a higher prevalence of certain autoimmune diseases. Both BBS patients and animal models have altered red blood cell and platelet compartments, as well as elevated white blood cell levels. Some of the hematopoietic system alterations are associated with BBS‐induced obesity. Moreover, we observe that the development and homeostasis of B cells in mice is regulated by the transport complex BBSome, whose dysfunction is a common cause of BBS. The BBSome limits canonical WNT signaling and increases CXCL12 levels in bone marrow stromal cells. Taken together, our study reveals a connection between a ciliopathy and dysregulated immune and hematopoietic systems

Schottky mass measurements of heavy neutron-rich nuclides in the element range 70\leZ \le79 at the ESR

Storage-ring mass spectrometry was applied to neutron-rich $^{197}$Au projectile fragments. Masses of $^{181,183}$Lu, $^{185,186}$Hf, $^{187,188}$Ta, $^{191}$W, and $^{192,193}$Re nuclei were measured for the first time. The uncertainty of previously known masses of $^{189,190}$W and $^{195}$Os nuclei was improved. Observed irregularities on the smooth two-neutron separation energies for Hf and W isotopes are linked to the collectivity phenomena in the corresponding nuclei.Comment: 10 pages, 9 figures, 2 table

\b{eta}-delayed three-proton decay of 31Ar

The beta decay of 31Ar, produced by fragmentation of a 36Ar beam at 880 MeV/nucleon, was investigated. Identified ions of 31Ar were stopped in a gaseous time projection chamber with optical readout allowing to record decay events with emission of protons. In addition to \b{eta}-delayed emission of one and two protons we have clearly observed the beta-delayed three-proton branch. The branching ratio for this channel in 31Ar is found to be 0.07(2)%.Comment: 5 pages, 3 figures, submitted to Physical Rev.

Technique for Resolving Low-lying Isomers in the Experimental Storage Ring (ESR) and the Occurrence of an Isomeric State in 192Re

A recent experiment using projectile fragmentation of a 197Au beam on a 9Be target, combined with the fragment recoil separator and experimental storage ring at ring at GSI, has uncovered an isomeric state in 192Re at 267(10) keV with a half-life of ∼6

A torque-based method demonstrates increased rigidity in Parkinson’s disease during low-frequency stimulation

Low-frequency oscillations in the basal ganglia are prominent in patients with Parkinson’s disease off medication. Correlative and more recent interventional studies potentially implicate these rhythms in the pathophysiology of Parkinson’s disease. However, effect sizes have generally been small and limited to bradykinesia. In this study, we investigate whether these effects extend to rigidity and are maintained in the on-medication state. We studied 24 sides in 12 patients on levodopa during bilateral stimulation of the STN at 5, 10, 20, 50, 130 Hz and in the off-stimulation state. Passive rigidity at the wrist was assessed clinically and with a torque-based mechanical device. Low-frequency stimulation at ≤20 Hz increased rigidity by 24 % overall (p = 0.035), whereas high-frequency stimulation (130 Hz) reduced rigidity by 18 % (p = 0.033). The effects of low-frequency stimulation (5, 10 and 20 Hz) were well correlated with each other for both flexion and extension (r = 0.725 ± SEM 0.016 and 0.568 ± 0.009, respectively). Clinical assessments were unable to show an effect of low-frequency stimulation but did show a significant effect at 130 Hz (p = 0.002). This study provides evidence consistent with a mechanistic link between oscillatory activity at low frequency and Parkinsonian rigidity and, in addition, validates a new method for rigidity quantification at the wrist

High-spin states in 212Po above the α-decaying (18+) isomer

The nucleus Po has been produced through the fragmentation of a U primary beam at 1 GeV/nucleon at GSI, separated with the FRagment Separator, FRS, and studied via isomer γ-decay spectroscopy with the RISING setup. Two delayed previously unknown γ rays have been observed. One has been attributed to the E3 decay of a 21 isomeric state feeding the α-emitting 45-s (18) high-spin isomer. The other γ-ray line has been assigned to the decay of a higher-lying 23 metastable state. These are the first observations of high-spin states above the Po (18) isomer, by virtue of the selectivity obtained via ion-by-ion identification of U fragmentation products. Comparison with shell-model calculations points to shortfalls in the nuclear interactions involving high-j proton and neutron orbitals, to which the region around Z∼100 is sensitive.This work was partially supported by the Ministry of Science, and Generalitat Valenciana, Spain, under the Grants SEV-2014-0398, FPA2017-84756-C4, PID2019-104714GB-C21, PROMETEO/2019/005 and by the EU FEDER funds. The support of the UK STFC, of the Swedish Research Council under Contract No. 2008-4240 and No. 2016-3969 and of the DFG (EXC 153) is also acknowledged. The experimental activity has been partially supported by the EU under the FP6-Integrated Infras-tructure Initiative EURONS, Contract No. RII3-CT-2004-506065 and FP7-Integrated Infrastructure Initiative ENSAR, Grant No. 262010

Angular momentum population in fragmentation reactions

Neutron-deficient nuclei with N = 126 have been populated following projectile fragmentation of a 238U beam with energy 1 GeV/A. The decay of several previously reported isomers has been measured. This will allow us to calculate high-spin isomeric ratios and compare them with model calculations to allow a better understanding of the reaction mechanism.Algora, Alejandro, [email protected] ; Molina Palacios, Francisco Manuel, [email protected] ; Rubio Barroso, Berta, [email protected]