bluuebunny/crossref_metadata_2025_split huggingface dataset:
Monthly intravenous alendronate treatment can maintain bone strength in osteogenesis imperfecta patients following cyclical pamidronate treatment
Authors: Harada Daisuke , Kashiwagi Hiroko , Ueyama Kaoru , Oriyama Kyoko , Hanioka Yuki , Sakamoto Natsuko , Kondo Kawai , Kishimoto Kanako , Izui Masafumi , Nagamatsu Yuiko , Yamada Hiroyuki , Tanaka Hiroyuki , Namba Noriyuki , Seino Yoshiki 
Published: October 2020

Abstract

Objectives
Osteogenesis imperfecta (OI) is a skeletal dysplasia characterized by recurrent fractures due to congenital bone fragility. The only bisphosphonate approved for OI in Japan is pamidronate (PAM). To investigate whether monthly intravenous alendronate (ALN) infusions can maintain bone strength in OI children following cyclical PAM treatment.

Methods
A prospective and non-inferiority study was conducted. Eight school-age OI patients aged 8.5±2.0 years who were treated with cyclical PAM for 6.0±2.3 years were enrolled and switched to monthly intravenous ALN (0.030 mg/kg/month). Changes in L1-4 bone mineral density (BMD) Z-scores, fracture rates, and bone turnover markers for 12 months were analyzed.

Results
Average BMD Z-scores were −3.0±1.9, −2.9±2.0, and −2.2±2.0 in 12 months before enrollment, at enrollment, and after 12 months of ALN treatment, respectively. BMD Z-scores increased significantly during treatment with both PAM and ALN (p=0.012), and the effect of ALN was not inferior to that of PAM (p=0.67). There was no change in fracture rates (p=0.86) and bone turnover markers during the 12 months before and after enrollment. Additionally, ALN showed no remarkable side effects.

Conclusions
Our results suggest that monthly intravenous ALN can maintain bone strength after primary usage of cyclical PAM. We concluded that monthly intravenous ALN as a maintenance treatment following cyclical PAM administration can be an option for OI children.
Effect of growth hormone therapy on thyroid function in isolated growth hormone deficient and short small for gestational age children: a two-year study, including on assessment of the usefulness of the thyrotropin-releasing hormone (TRH) stimulation test
Authors: Ebuchi Yuki , Kubo Toshihide , Furujo Mahoko , Higuchi Yousuke , Fujinaga Shoko , Tsuchiya Hiroki , Urata Naoko , Ochi Motoharu , Namba Takahiro , Hara Narumi , Kishi Michiko 
Published: October 2020

Abstract

Background
The relationship between growth hormone (GH)-replacement therapy and the thyroid axis in GH-deficient (GHD) children remains controversial. Furthermore, there have been few reports regarding non-GHD children. We aimed to determine the effect of GH therapy on thyroid function in GHD and non-GHD children and to assess whether thyrotropin-releasing hormone (TRH) stimulation test is helpful for the identification of central hypothyroidism before GH therapy.

Methods
We retrospectively analyzed data from patients that started GH therapy between 2005 and 2015. The free thyroxine (FT4) and thyroid-stimulating hormone (TSH) concentrations were measured before and during 24 months of GH therapy. The participants were 149 children appropriate for gestational age with GHD (IGHD: isolated GHD) (group 1), 29 small for gestational age (SGA) children with GHD (group 2), and 25 short SGA children (group 3).

Results
In groups 1 and 2, but not in group 3, serum FT4 concentration transiently decreased. Two IGHD participants exhibited central hypothyroidism during GH therapy, and required levothyroxine (LT4) replacement. They showed either delayed and/or prolonged responses to TRH stimulation tests before start of GH therapy.

Conclusions
GH therapy had little pharmacological effect on thyroid function, similar changes in serum FT4 concentrations were not observed in participants with SGA but not GHD cases who were administered GH at a pharmacological dose. However, two IGHD participants showed central hypothyroidism and needed LT4 replacement therapy during GH therapy. TRH stimulation test before GH therapy could identify such patients and provoke careful follow-up evaluation of serum FT4 and TSH concentrations.
The effect of treatment with recombinant human growth hormone (rhGH) on linear growth and adult height in children with idiopathic short stature (ISS): a systematic review and meta-analysis
Authors: Paltoglou George , Dimitropoulos Ioannis , Kourlaba Georgia , Charmandari Evangelia 
Published: October 2020

Abstract

Objectives
Idiopathic short stature (ISS) is a recognized, albeit a controversial indication for treatment with recombinant human growth hormone (rhGH).
The objective of the present study was to conduct a systematic review of the literature and meta-analyses of selected studies about the use of rhGH in children with ISS on linear growth and adult height (AH).

Methods
A systematic literature search was conducted to identify relevant studies published till February 28, 2017 in the following databases: Medline (PubMed), Scopus and Cochrane Central Registry of Controlled Trials. After exclusion of duplicate studies, 3,609 studies were initially identified. Of those, 3,497 studies were excluded during the process of assessing the title and/or the abstract. The remaining 112 studies were evaluated further by assessing the full text; 21 of them fulfilled all the criteria in order to be included in the current meta-analysis.

Results
Children who received rhGH had significantly higher height increment at the end of the first year, an effect that persisted in the second year of treatment and achieved significantly higher AH than the control group. The difference between the two groups was equal to 5.3 cm (95% CI: 3.4–7 cm) for male and 4.7 cm (95% CI: 3.1–6.3 cm) for female patients.

Conclusion
In children with ISS, treatment with rhGH improves short-term linear growth and increases AH compared with control subjects. However, the final decision should be made on an individual basis, following detailed diagnostic evaluation and careful consideration of both risks and benefits of rhGH administration.
Detection of hepatocyte nuclear factor 4A(HNF4A) gene variant as the cause for congenital hyperinsulinism leads to revision of the diagnosis of the mother
Authors: Vlachopapadopoulou Elpis-Athina , Dikaiakou Eirini , Fotiadou Anatoli , Sifianou Popi , Tatsi Elizabeth Barbara , Sertedaki Amalia , Kanaka-Gantenbein Christina , Michalacos Stefanos 
Published: October 2020

Abstract

Objectives
Congenital Hyperinsulinism (CHI) is the most common cause of persistent hypoketotic hypoglycaemia in neonates and infants. It is a genetic disorder with both familial and sporadic forms.

Case Presentation
In this study, we examined two unrelated infants of diabetic mothers (IDMs) presented with HH. DNA sequencing (Sanger and NGS panel) identified pathogenic variants of the Hepatocyte Nuclear Factor 4A (HNF4A) gene in both families. Pathogenic variants of HNF4A gene are reported to cause HH in the newborn period and Maturity Onset Diabetes of the Young (MODY) later in life. The diagnosis of MODY was made in retrospect for the two mothers, thus improving the management of their diabetes.

Conclusion
Genetic testing for CHI is strongly recommended if neonatal hypoglycemia persists. A family history of MODY or presumed type II diabetes can support that the affected gene is HNF4A.
Delineation of the genetic and clinical spectrum, including candidate genes, of monogenic diabetes: a multicenter study in South Korea
Authors: Cheon Chong Kun , Lee Yeoun Joo , Yoo Sukdong , Lee Jung Hee , Lee Jeong Eun , Kim Hyun Ji , Choi Im Jeong , Choi Yeonsong , Lee Semin , Yoon Ju Young 
Published: October 2020

AbstractObjectivesMonogenic diabetes includes a group of heterogeneous diabetes types. We aimed to identify the frequency, clinical and molecular features of monogenic diabetes in a Korean pediatric cohort.MethodsA retrospective cohort and multicenter study of Korean children suspected to have monogenic diabetes, managed by four pediatric endocrine centers in the southeast region of South Korea, from February 2016 to February 2020. We recruited 27 pediatric Korean patients suspected to have monogenic diabetes who had at least two of the following three criteria (age at diagnosis, family history, and clinical presentation). Targeted exome sequencing was conducted in these patients. The functional consequences of the variants were predicted by bioinformatics and protein structure analysis.ResultsMolecular genetic analysis identified 16 patients (59.3%) with monogenic diabetes. We identified a total of eight unique variants, including five novel variants (HNF4Ac.1088C>T,CELc.1627C>T and c.1421C>T,PAX4c.538+8G>C,INSc.71C>T). We also identified two potential candidate gene variants for monogenic diabetes, namely c.650T>C in theSLC2A2gene and c.629G>A in thePTF1Agene. Other variants were identified in theWFS1andNPHP3genes in two rare genetic disorders. Variant-positive individuals had a lower presence of autoantibody positivity at the time of diagnosis and higher glycosylated hemoglobin levels at last follow-up when compared to variant-negative patients (p<0.001 and p=0.029, respectively).ConclusionsThese results further expand the spectrum of known variants as well as potential candidate gene variants associated with monogenic diabetes in Korea.
Prenatal smoke exposure is associated with increased anogenital distance in female infants: a prospective case–control study
Authors: Kızılay Deniz Özalp , Aydın Cansever , Aygün Ayşe Pakel , Tuhan Hale Ünver , Olukman Özgür 
Published: October 2020

Abstract

Objectives
To investigate the effects of maternal smoking during pregnancy on newborn infants’ anogenital distance (AGD).

Methods
Fifty-six female and sixty-four male newborn infants from mothers who smoked during pregnancy were included in this study. A control group for each sex was selected from infants whose mothers had no active or passive (in either the household or the workplace) smoke exposure before or during pregnancy. Questionnaire data on maternal demographic characteristics and information about cigarette use were collected. We assessed genital anthropometry which included AGD for both male and female neonates, and stretched penile length (SPL), penile girth for males within the first 48 h after birth. AGD measurements were also normalized according to birth weight (AGD/weight in grams), length (AGD/height in millimeters), and ponderal index [AGD/(weight in grams/height in cubic centimeters)]. Anogenital index (AGI) was calculated by dividing the AGD by cube root of birth weight.

Results
In female infants, prenatal smoke exposure was associated with significantly increased weight-adjusted AGD (p=0.03). There was also a significant correlation between mothers’ daily smoking rates and weight-adjusted AGD (r=0.27/p=0.03). In male infants, fetal smoke exposure was not associated with any AGD measurements, SPL and penile girth.

Conclusions
A significant increase in weight-adjusted AGD in female infants exposed to maternal smoking may be an indicator of antenatal androgen exposure and may pose a risk for short and long-term endocrine, metabolic and behavioral problems.
Near-field resonant photon sorting applied: dual-band metasurface quantum well infrared photodetectors for gas sensing
Authors: Hainey Mel F. , Mano Takaaki , Kasaya Takeshi , Ochiai Tetsuyuki , Osato Hirotaka , Watanabe Kazuhiro , Sugimoto Yoshimasa , Kawazu Takuya , Arai Yukinaga , Shigetou Akitsu , Miyazaki Hideki T. 
Published: October 2020

Abstract
Two photodetectors for measuring transmission and two bulky, separated narrowband filters for picking a target gas absorption line and a non-absorbing reference from broadband emission are typically required for dual-band non-dispersive infrared (NDIR) gas sensing. Metal-dielectric-metal (MDM) metasurface plasmon cavities, precisely controllable narrowband absorbers, suggest a next-generation, nanophotonic approach. Here, we demonstrate a dual-band MDM cavity detector that consolidates the function of two detectors and two filters into a single device by employing resonant photon sorting-a function unique to metasurfaces. Two MDM cavities sandwiching a quantum well infrared photodetector (QWIP) with distinct resonance wavelengths are alternately arranged in a subwavelength period. The large absorption cross section of the cavities ensures ~95% efficient lateral sorting of photons by wavelength into the corresponding detector within a near-field region. The flow of incident photons is thus converted into two independent photocurrents for dual-band detection. Our dual-band photodetectors show competitive external quantum efficiencies up to 38% (responsivity 2.1 A/W, peak wavelength 6.9 5m) at 78 K. By tailoring one resonance to an absorption peak of NO2 (6.25 5m) and the other to a non-absorbing reference wavelength (7.15 5m), NDIR NO2 gas sensing with 10 ppm accuracy and 1 ms response times is demonstrated. Through experiment and numerical simulation, we confirm near-perfect absorption at the resonant cavity and suppressed absorption at its non-resonant counterpart, characteristic of resonant photon sorting. Dual-band sensing across the mid-infrared should be possible by tailoring the cavities and quantum well to desired wavelengths.
Strong spin squeezing induced by weak squeezing of light inside a cavity
Authors: Qin Wei , Chen Ye-Hong , Wang Xin , Miranowicz Adam , Nori Franco 
Published: October 2020

Abstract
We propose a simple method for generating spin squeezing of atomic ensembles in a Floquet cavity subject to a weak, detuned two-photon driving. We demonstrate that the weak squeezing of light inside the cavity can, counterintuitively, induce strong spin squeezing. This is achieved by exploiting the anti-Stokes scattering process of a photon pair interacting with an atom. Specifically, one photon of the photon pair is scattered into the cavity resonance by absorbing partially the energy of the other photon whose remaining energy excites the atom. The scattering, combined with a Floquet sideband, provides an alternative mechanism to implement Heisenberg-limited spin squeezing. Our proposal does not need multiple classical and cavity-photon drivings applied to atoms in ensembles, and therefore its experimental feasibility is greatly improved compared to other cavity-based schemes. As an example, we demonstrate a possible implementation with a superconducting resonator coupled to a nitrogen-vacancy electronic-spin ensemble.
Crystal structure of phenarsazine chloride acetic acid solvate, C14H13AsClNO2
Authors: Averdunk Arthur , Hosten Eric C. , Betz Richard 
Published: October 2020

Abstract
C14H13AsClNO2, triclinic, P

1
¯

$\overline{1}$

(no. 2), a = 7.7180(7) Å, b = 8.2190(7) Å, c = 11.9620(10) Å, α = 87.438(4)°, β = 73.450(4)°, γ = 72.167(4)°, V = 691.66(10) Å3, Z = 2, Rgt
(F) = 0.0203, wRref
(F
2) = 0.0541, T = 200 K.

CCDC no.: 2031779
Pour une biosémiotique des interactions: Régimes de signification et téléologie
Authors: Fontanille Jacques 
Published: October 2020

Abstract
Telos is in vogue in biosemiotic researches, which present the teleological solution as anti-Darwinian, while it is more often, for biologists, only ante-Darwinian. The assimilation of structuring contents to a “function”, and of the function to a “goal”, in an irreversible temporality, is the most frequent basis of this methodological creepage. The teleology is based on a projective and ascending epistemic orientation, to which we can oppose a retrojective, descending and achronic one, including modal and sensitive interactional semiotics.
For semiotics, the challenge lies in the nature of its relationships with other disciplines, particularly biology. Indeed, we see that the temptation is great for semioticians to dwell precisely in the shadows and shams of other disciplines, and to call “sign” or “semiosis” what other sciences seem to have still some trouble to explain, with the risk of only confronting problems that will soon be obsolete. We propose here the theoretical and methodological principles of structural biosemiotics, and precisely attentive to the problems that biologists face, solve and renew.
A Regression Model for Predicting the Likelihood of Reporting a Crime Based on the Victim’s Demographic Variables and Their Perceptions Towards the Police
Authors: Pulenyane Malebogo , Montshiwa Tlhalitshi Volition 
Published: October 2020

Abstract
Despite the growing criminal activities in South Africa, many victims still do not report the crimes, therefore there was a need to understand the determinants of the likelihood of reporting a crime in the country. Binary logistic regression is a supervised machine learning algorithm that can assist in predicting the likelihood of reporting a crime but the selection of relevant variables to add in the model varies from one author to the other. Selection of theoretically sound and statistically relevant independent variables is key to achieving parsimonious multivariate models. This study sought to test the efficiency of some commonly used variable selection methods for logistic regression models in order to identify the most relevant determinants of the likelihood of reporting a crime of housebreaking. The study used 17 candidate variables such as the victims’ demographic variables and their perceptions on the police. The multivariate model fitted using stepwise selection was found to be a best fit for the data based on the lowest AIC, the highest classification accuracy rate and the highest Area under the Receiver Operating Characteristic curve. The model fitted using the Hosmer-Lemeshow (H-L) algorithm was the worst fit for the data. The study revealed a limitation of the stepwise selection method which is that this method may select different independent variables for each unique set of randomly selected observations of the same dataset. The study established a multivariate logistic regression model to predict the likelihood of a victim reporting a crime of housebreaking and the determinants thereof.
Examples of Variable-Head Field Permeability Tests Used in Books: Given Interpretations and Correct Interpretations
Authors: Boada Ana , Chapuis Robert P. , Zhang Lu , Marefat Vahid 
Published: October 2020

Abstract
When a monitoring well is tested for permeability, three methods, with three types of graphs, may be used to analyze the data of the water column Z(t) versus time t. The three graphs provide a clear diagnosis, previously proven to be user-independent. According to experience, there is usually a systematic error H0 on the Z(t) data, which has different origins. Statistically, most plots of log Z(t) versus t are curved upward, a few are curved downward, and very few yield a straight line. Positive or negative values of H0 yield upward or downward curvatures, whereas a null piezometric error yields a straight line. This article presents an analysis of 21 sets of slug test data found in textbooks with the three diagnostic graphs and obtain three new findings. First, the textbooks ignore the method already proven and implemented in other countries since the 1980s. Second, the books selected biased data because their plots of log Z(t) versus t are either curved upward or straight, but no plot is curved downward. Third, the data of the first test of the group 3 theory are abnormal and do not correspond to usual field data with good equipment. In addition, one book presents a test in an aquitard as an example of test in an aquifer. The H0 value was easily found by the optimization method for all tests, and the derivative graph for 19 of the 21 tests, two data sets being too inaccurate to yield a good derivative graph.
A Mutation in theDrosophila melanogaster eveStripe 2 Minimal Enhancer Is Buffered by Flanking Sequences
Authors: López-Rivera Francheska , Foster Rhoades Olivia K , Vincent Ben J , Pym Edward C G , Bragdon Meghan D J , Estrada Javier , DePace Angela H , Wunderlich Zeba 
Published: October 2020

AbstractEnhancers are DNA sequences composed of transcription factor binding sites that drive complex patterns of gene expression in space and time. Until recently, studying enhancers in their genomic context was technically challenging. Therefore, minimal enhancers, the shortest pieces of DNA that can drive an expression pattern that resembles a gene’s endogenous pattern, are often used to study features of enhancer function. However, evidence suggests that some enhancers require sequences outside the minimal enhancer to maintain function under environmental perturbations. We hypothesized that these additional sequences also prevent misexpression caused by a transcription factor binding site mutation within a minimal enhancer. Using the Drosophila melanogaster even-skipped stripe 2 enhancer as a case study, we tested the effect of a Giant binding site mutation (gt-2) on the expression patterns driven by minimal and extended enhancer reporter constructs. We found that, in contrast to the misexpression caused by the gt-2 binding site deletion in the minimal enhancer, the same gt-2 binding site deletion in the extended enhancer did not have an effect on expression. The buffering of expression levels, but not expression pattern, is partially explained by an additional Giant binding site outside the minimal enhancer. Deleting the gt-2 binding site in the endogenous locus had no significant effect on stripe 2 expression. Our results indicate that rules derived from mutating enhancer reporter constructs may not represent what occurs in the endogenous context.
Humanized Drosophila Model of the Meier-Gorlin Syndrome Reveals Conserved and Divergent Features of the Orc6 Protein
Authors: Balasov Maxim , Akhmetova Katarina , Chesnokov Igor 
Published: October 2020

Abstract
Orc6 is a component of the Origin Recognition Complex important for the initiation of DNA replication. In order to study the functions of Orc6 in vivo, Balasov, Akhmetova, and Chesnokov.....
Tissue-Specific Transcription Footprinting Using RNA PoI DamID (RAPID) in Caenorhabditis elegans
Authors: Gómez-Saldivar Georgina , Osuna-Luque Jaime , Semple Jennifer I , Glauser Dominique A , Jarriault Sophie , Meister Peter 
Published: October 2020

Abstract
Differential gene expression across cell types underlies development and cell physiology in multicellular organisms. Caenorhabditis elegans is a powerful, extensively used model to address these biological questions. A remaining bottleneck relates to the difficulty to obtain comprehensive tissue-specific gene transcription data, since available methods are still challenging to execute and/or require large worm populations. Here, we introduce the RNA Polymerase DamID (RAPID) approach, in which the Dam methyltransferase is fused to a ubiquitous RNA polymerase subunit to create transcriptional footprints via methyl marks on the DNA of transcribed genes. To validate the method, we determined the polymerase footprints in whole animals, in sorted embryonic blastomeres and in different tissues from intact young adults by driving tissue-specific Dam fusion expression. We obtained meaningful transcriptional footprints in line with RNA-sequencing (RNA-seq) studies in whole animals or specific tissues. To challenge the sensitivity of RAPID and demonstrate its utility to determine novel tissue-specific transcriptional profiles, we determined the transcriptional footprints of the pair of XXX neuroendocrine cells, representing 0.2% of the somatic cell content of the animals. We identified 3901 candidate genes with putatively active transcription in XXX cells, including the few previously known markers for these cells. Using transcriptional reporters for a subset of new hits, we confirmed that the majority of them were expressed in XXX cells and identified novel XXX-specific markers. Taken together, our work establishes RAPID as a valid method for the determination of RNA polymerase footprints in specific tissues of C. elegans without the need for cell sorting or RNA tagging.