Thyroid Hormone Transport : A Journey from Thyroid Gland to Targeted Nuclear Receptorsdeficiency,decorin, arthrogryposis, connective tissue fragility

Article信州医学雑誌 59(6): 403-410(2011)departmental bulletin pape

An alternative lattice field theory formulation inspired by lattice supersymmetry

application/pdfWe propose an unconventional formulation of lattice field theories which is quite general, although originally motivated by the quest of exact lattice supersymmetry. Two long standing problems have a solution in this context: 1) Each degree of freedom on the lattice corresponds to 2d degrees of freedom in the continuum, but all these doublers have (in the case of fermions) the same chirality and can be either identified, thus removing the degeneracy, or, in some theories with extended supersymmetry, identified with different members of the same supermultiplet. 2) The derivative operator, defined on the lattice as a suitable periodic function of the lattice momentum, is an addittive and conserved quantity, thus assuring that the Leibniz rule is satisfied. This implies that the product of two fields on the lattice is replaced by a non-local “star product” which is however in general non-associative. Associativity of the “star product” poses strong restrictions on the form of the lattice derivative operator (which becomes the inverse Gudermannian function of the lattice momentum) and has the consequence that the degrees of freedom of the lattice theory and of the continuum theory are in one-to-one correspondence, so that the two theories are eventually equivalent. We can show that the non-local star product of the fields effectively turns into a local one in the continuum limit. Regularization of the ultraviolet divergences on the lattice is not associated to the lattice spacing, which does not act as a regulator, but may be obtained by a one parameter deformation of the lattice derivative, thus preserving the lattice structure even in the limit of infinite momentum cutoff. However this regularization breaks gauge invariance and a gauge invariant regularization within the lattice formulation is still lacking. © 2017, The Author(s).journal articl

Cost-effectiveness analysis of Next generation sequencing tests in critically ill pediatric patients

Rare genetic diseases in the pediatric population constitute an urgent global public health issue; overall, more than 300 million people are affected worldwide. Next Generation Sequencing techniques, as Whole genome sequencing (WGS) and Whole exome sequencing (WES), have proven to be significantly supportive in diagnosing these complex conditions. The aim is to evaluate the cost-effectiveness of WGS versus WES in pediatric patients with suspected genetic disorders. A Bayesian Markov model was calibrated among this target population, comparing WGS to WES. Model parameters were retrieved from the scientific literature. Costs and benefits were discounted at a rate of 3%. A lifetime time horizon and the National Health Service perspective was chosen. The Eurozone threshold, ranging from €30,000 to €50,000, was adopted. Markov Chain Monte Carlo was used as the simulation method for Bayesian inference. Uncertainty was explored through a probabilistic sensitivity analysis (PSA) and a value of information analysis (VOI), illustrated through Cost-Effectiveness Acceptability Curve (CEAC) and Expected Value of Perfect Information (EVPI). Results were reported as Incremental Cost-Effectiveness Ratio (ICER), expressed as euros per additional diagnosis. The base case findings highlighted that WGS was cost-effective with an ICER of €31,973. The CEAC showed that for all thresholds over the ICER, WGS had the highest probability of being cost-effective. The EVPI per patient was estimated to be €6,535 on a threshold of €50,000/diagnosis. In addition to being cost-effective, WGS could allow early genetic diagnosis shortening the diagnostic odyssey. The use of WGS in the diagnostic workup has the potential to revolutionise personalised medicine and to play a significant role in achieving SDG 3 by providing personalised healthcare, identifying genetic risk factors for diseases, and informing public health policies for a target population that represents the human capital of the future

Cost-Effectiveness of Whole-Genome vs Whole-Exome Sequencing Among Children With Suspected Genetic Disorders

Importance The diagnosis of rare diseases and other genetic conditions can be daunting due to vague or poorly defined clinical features that are not recognized even by experienced clinicians. Next-generation sequencing technologies, such as whole-genome sequencing (WGS) and whole-exome sequencing (WES), have greatly enhanced the diagnosis of genetic diseases by expanding the ability to sequence a large part of the genome, rendering a cost-effectiveness comparison between them necessary. Objective To assess the cost-effectiveness of WGS compared with WES and conventional testing in children with suspected genetic disorders. Design, Setting, and Participants In this economic evaluation, a bayesian Markov model was implemented from January 1 to June 30, 2023. The model was developed using data from a cohort of 870 pediatric patients with suspected genetic disorders who were enrolled and underwent testing in the Ospedale Pediatrico Bambino Gesu, Rome, Italy, from January 1, 2015, to December 31, 2022. The robustness of the model was assessed through probabilistic sensitivity analysis and value of information analysis. Main Outcomes and Measures Overall costs, number of definitive diagnoses, and incremental cost-effectiveness ratios per diagnosis were measured. The cost-effectiveness analyses involved 4 comparisons: first-tier WGS with standard of care; first-tier WGS with first-tier WES; first-tier WGS with second-tier WES; and first-tier WGS with second-tier WGS. Results The ages of the 870 participants ranged from 0 to 18 years (539 [62%] girls). The results of the analysis suggested that adopting WGS as a first-tier strategy would be cost-effective compared with all other explored options. For all threshold levels above euro29 800 (US $32 408) per diagnosis that were tested up to euro50 000 (US$54 375) per diagnosis, first-line WGS vs second-line WES strategy (ie, 54.6%) had the highest probability of being cost-effective, followed by first-line vs second-line WGS (ie, 54.3%), first-line WGS vs the standard of care alternative (ie, 53.2%), and first-line WGS vs first-line WES (ie, 51.1%). Based on sensitivity analyses, these estimates remained robust to assumptions and parameter uncertainty. Conclusions and Relevance The findings of this economic evaluation encourage the development of policy changes at various levels (ie, macro, meso, and micro) of international health systems to ensure an efficient adoption of WGS in clinical practice and its equitable access

The Impact of Socio-Economic Conditions on Individuals’ Health: Development of an Index and Examination of its Association with Three of the Most Frequently Registered Diseases in Lazio Region of Italy

This study examines spatial disparities and associations between the social deprivation index (SDI) and Type 2 Diabetes, Dementia, and Heart Failure in Italy’s Lazio Region. The primary goal is to assess how social deprivation impacts health inequalities by analys- ing SDI-disease correlations. This retrospective study uses 2020 socioeconomic data and 2021 epidemiological indicators in Lazio Region, Italy. The SDI, constructed following established guidelines, measures social deprivation. Statistical tools, including regression models, Moran’s I test, and LISA techniques, are used to analyse spatial patterns. Uti- lizing a retrospective approach, we merge 2020 socioeconomic and 2021 epidemiologi- cal data for analysis. The SDI is computed using established methods. Spatial disparities are explored through regression models, Moran’s I test, and LISA techniques. The study reveals significant disparities in disease incidence. District V in Rome exhibits high Type 2 Diabetes (113.75/1000) and Heart Failure (37.98/1000) rates, while Marcetelli has elevated Dementia incidence (19.74). Southern municipalities face high unemployment (up to 25%), whereas bordering areas have higher education levels (30–60%). Disease hotspots emerge in Rome and centre-north municipalities, aligning with social deprivation patterns. Regres- sion models confirm the link between disease incidence and socioeconomic indicators. SDI ranges from − 1.31 to + 10.01. This study underscores a correlation between social depriva- tion and disease incidence. Further national-level research is essential to deepen our under- standing of how social deprivation influences health outcomes, with potential implications for addressing health disparities both regionally and nationally

通常の学校における特別支援教育体制へのスクールカウンセラーの関与（その１） ―生徒と教員への働きかけ―

text紀要論文 / Departmental Bulletin Paperdepartmental bulletin pape

児の出生体重，胎盤重量とDNAメチル化状態および遺伝子発現量との関連性の検討

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看護学生におけるストレスによる学習への影響

application/pdf目的：看護大学生の感じているストレスと学習意欲・態度への影響を検討． 　対象：看護学科4年生82名． 　方法：学習意欲尺度（加曽利，2008）を含む調査票で検討した． 　結果：1）［集中力・持続力因子］の10項目中7項目で「はい」回答者群のストレス度が有意に高かった．2）［自己向上因子］では，5項目中2項目で「いいえ」回答者群はストレス度が有意に高かった．3）ストレス度による学習意欲の変化は，4因子すべてにおいて有意差は認められなかった．4）各因子の項目間では，「遅刻・欠席が多い」ことは［授業に対する積極性因子］以外の負の3因子の項目との関連が示唆された．5）学習意欲尺度の各項目間では，7組の項目で遅刻や欠席の少なさとの関係が示唆された． 　結論：1）～5）の結果より，本対象では，[集中力・持続力因子]，[自己向上因子]および[授業に対する真面目さ因子]においてストレスとの関係が示唆された．This study surveyed effects of stress on learning motivation of 82 student-nurses at 4 th grade by a questionnaire including a learning motivation scale（Kasori T, 2009）. The result suggested following 5 points; 1）Positive respondents（who said Yes）on 7 out of 10 items concerning concentration and its endurance showed higher stress level than negative respondents（who said No）did. 2）Negative respondents on 2 out of 5 items concerning self-efficacy and its improving motivation showed higher stress level than positive respondents did. 3）No relationship between learning motivation and stress levels appeared in 4 stress factors. 4）Students who answered as they had tended to be late or absent seemed to have much stress and negative responses at 3 items concerning active factors on learning at a class. 5）Tendency of less late or absence seemed to relate each item of learning desire scales significant relation between seven items. In conclusion, 〔concentration and its endurance〕 and 〔self-efficacy and its improving motivation〕 may concern the stress of the student nurses.departmental bulletin pape

長野県霧ヶ峰地域における黒曜石原産地の踏査報告(2)-長和町男女倉南地区と下諏訪町星ヶ台地区-

Articledepartmental bulletin pape

Dalitz analysis of three-body charmless B0-->K0pi+pi- decay

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