bluuebunny/crossref_metadata_2025_split huggingface dataset:
Genetic variants of the phenylalanine hydroxylase gene in patients with phenylketonuria in the northeast of Iran
Authors: Jafarzadeh-Esfehani Reza , Vojdani Samaneh , Hashemian Somayyeh , Mirinezhad Mohammadreza , Pourafshar Mohammad , Forouzanfar Narjes , Zargari Selma , Jaripour Mohammad Ehsan , Sadr-Nabavi Ariane 
Published: February 2020

Abstract

Background
Phenylketonuria (PKU) is a common metabolic disorder with great burden if left untreated or undiagnosed. Genetic variations in the phenylalanine hydroxylase (PAH) gene may be widely varied across different regions of a country. By knowing the most common mutations, diagnostic work-ups will be offered sooner and with lower costs for patients. The present study defines the most common genetic variations in the PAH gene in Khorasan province of Iran.

Methods
The present cross-sectional study took place in Khorasan province of Iran within a 6-year period starting from 2012 to 2018. Every patient who had been referred as suspicious PKU cases or referred for prenatal diagnosis was included in the present study.

Results
A total number of 122 individuals with a mean age of 26.22 years were enrolled in the present study. The most frequent genetic variations in the PAH gene were c.1066-11G > A and c.143 T > C. Exon 7 carried the most genetic variations compared to any single exon. Also, three patients had compound heterozygous status for c.727 C > T/c.1066-11 G > A in exon 7 and 11 of the PAH gene.

Conclusions
Mutations in the PAH gene are widely varied among different populations, and our results confirmed this fact. Determination of the most prevalent mutations and polymorphisms in each region will reduce the time and cost of diagnosing such preventable diseases and will therefore reduce the disease burden.
The decision-making levels of urine tetrasaccharide for the diagnosis of Pompe disease in the Turkish population
Authors: Canbay Erhan , Vural Melisa , Kalkan Uçar Sema , Sezer Ebru Demirel , Karasoy Hatice , Yüceyar Ayşe Nur , Çoker Mahmut , Sözmen Eser Yildirim 
Published: February 2020

Abstract

Background
Recently, urinary excretion of the tetrasaccharide 6-α-D-glucopyranosyl-maltotriose (Glc4) has been proposed as a marker for the diagnosis and monitoring of Pompe disease (PD). We aimed to determine the reference intervals and reliable decision-making levels of urine tetrasaccharide concentrations for the diagnosis of infantile- and late-onset Pompe patients in the Turkish population.

Methods
In this study, nine patients with PD (five of them with late-onset PD [LOPD]) and 226 healthy individuals (aged 0–64 years) were included. Urine Glc4 concentrations were determined using the ultra-high-performance liquid chromatography (UHPLC) tandem mass spectrometry (MS/MS) method.

Results
Our data showed that the urine tetrasaccharide levels decreased with age in healthy individuals (p < 0.001, r = −0.256). It was higher especially during the first year of life compared to that in the elder subjects. The tetrasaccharide level of Pompe patients was higher compared to that of healthy controls of the same age: 99 ± 68 mmol/mol creatinine for infantile onset vs. 4.0 ± 3.0 mmol/mol creatinine for healthy controls of the same age group and 12.1 ± 17.4 mmol/mol creatinine for late onset vs. 1.7±1.2 mmol/mol creatinine for healthy controls of the same age group.

Conclusions
The results of this study showed that the reference intervals of tetrasaccharide in urine changed over time; therefore, it is critically important to define age-based decision levels for the diagnosis of LOPD.
Hyperthyrotropinemia is common in preterm infants who are born small for gestational age
Authors: Grob Francisca , Gutiérrez Monserrat , Leguizamón Liliana , Fabres Jorge 
Published: February 2020

Abstract

Background
To determine the incidence of congenital hypothyroidism (CH) with a delayed increase in thyroid-stimulating hormone (TSH) levels in preterm infants and to describe the associated factors.

Methods
A prospective newborn screening (NBS) was conducted in 122 very low birth weight (VLBW) premature neonates born between June 2016 and September 2017. A dried blood spot thyroid stimulating hormone (TSH) level ≥15 mIU/L at 7 and 15 days of life, ≥10 in serum at the second screen or ≥5 at the third screen was defined as positive for CH. A concomitant increase in the TSH level and normal free thyroxine (T4) level was classified as hyperthyrotropinemia (HT).

Results
Before the first month of life, no cases of CH were identified. However, the second and third NBS identified 10 and six subjects with HT, respectively, but no cases of CH. The overall cumulative incidence of HT was 1:8. Small for gestational age (SGA) was a variable that was significantly associated with HT, even after the exclusion of patients with Down syndrome.

Conclusions
A high incidence of HT, but not CH, was found after the first month of life in preterm infants. Being SGA was strongly associated with having higher TSH. The need for repeating TSH screening after the first month of life in this population remains to be established.
Short-term neurological improvement in neonates with hypoxic-ischemic encephalopathy predicts neurodevelopmental outcome at 18–24 months
Authors: Grass Beate , Scheidegger Simone , Latal Beatrice , Hagmann Cornelia , Held Ulrike , Brotschi Barbara , _ _ 
Published: February 2020

AbstractObjectivesTo evaluate the association of short-term neurological improvement until day of life 4 in neonates with hypoxic-ischemic encephalopathy (HIE) receiving therapeutic hypothermia (TH) with neurodevelopmental outcome at 18–24 months.MethodsThis is a retrospective analysis of prospectively collected data of 174 neonates with HIE registered in the Swiss National Asphyxia and Cooling Register between 2011 and 2013. TH was initiated according to national guidelines, and Sarnat staging was performed daily. Short-term neurological improvement was defined if Sarnat stage improved from admission until day 4 of life. Standardized neurodevelopmental assessments were performed at 18–24 months. Unfavorable outcome was defined as death before 2 years of age or severe or moderate disability at follow-up.ResultsOne hundred and sixty-four of 174 neonates (94%) received TH, of those 30 (18%) died in the neonatal period (no late mortality). Eighty-one percent of the survivors (109/134) were seen at 18–24 months. Of the 164 cooled neonates, 62% had a short-term neurological improvement, and the Sarnat score remained unchanged in 33%. Short-term neurological improvement was associated with an odds ratio (OR) of 0.118 [95% confidence interval (CI) 0.051–0.271] for an unfavorable outcome at 18–24 months.ConclusionShort-term neurological improvement predicts neurodevelopmental outcome at 18–24 months in the era of TH. Clinical examination must be part of a comprehensive evaluation for prognostication in HIE.
Crystal structure of 2-(5-chloro-quinolin-8-yloxy)-N-quinolin-8-yl-acetamide, C20H14N3O2Cl
Authors: Li Xiao-Hong , Wu Wei-Na 
Published: February 2020

Abstract
C20H14N3O2Cl, monoclinic, P21/c (no. 14), a = 15.954(8) Å, b = 8.246(4) Å, c = 14.383(7) Å, β = 116.313(8)°, V = 1696.1(15) Å3, Z = 4, R
gt(F) = 0.0331, wR
ref(F
2) = 0.0909, T = 296 K.
The crystal structure of 4-(trifluoromethyl)nicotinic acid, C7H4F3NO2
Authors: Liu Gui-Jie , Zhu Meng-En , Hou Jin-Rui , Cai Bin 
Published: February 2020

Abstract
C7H4F3NO2, monoclinic, P21/c (no. 14), a = 6.4488(11) Å, b = 14.922(2) Å, c = 7.7868(12) Å, β = 100.941(5)°, V = 735.7(2) Å3, Z = 4, R
gt(F) = 0.0431, wR
ref(F
2) = 0.1158, T = 150(2) K.
Application of gold nanoparticles in the methods of optical molecular absorption spectroscopy: main effecting factors
Authors: Apyari Vladimir V. , Arkhipova Viktoria V. , Gorbunova Maria V. , Isachenko Andrey I. , Volkov Pavel A. , Dmitrienko Stanislava G. 
Published: February 2020

Abstract
Results of studies on the analytical capabilities of gold nanoparticles in the methods of optical molecular absorption spectroscopy are reported. Peculiar effects of the nature of nanoparticle stabilizer, its charge, morphology of nanoparticles, form in which they are present in the system (in a colloidal solution or as a part of a nanocomposite with polyurethane foam) upon the determination of organic compounds (thiols, cationic compounds, catecholamines) and inorganic anions are considered. The determination is based on aggregation of nanoparticles or change in the state of their surface and morphology as a result of silver coating, leading to significant spectral and color changes, which can be monitored both by optical molecular absorption spectroscopy and visually. The ways to increase sensitivity and to control selectivity of the analysis using gold nanoparticles and their nanocomposites are outlined.
Mild and efficient 64Cu labeling of perhydro-1, 4-diazepine derivatives for potential use with large peptides, proteins and antibodies
Authors: Greifenstein Lukas , Späth Denise , Sinnes Jean Phillip , Grus Tilmann , Rösch Frank 
Published: February 2020

Abstract
DATA (6-Amino-1,4-diazapine-triacetate) and AAZTA (6-Amino-1,4-diazapine-tetracetate) chelators represent a novel approach representing hybrid-chelates: possessing significant cyclic and acyclic character. It is believed that flexibility of the acyclic part facilitates rapid complexation, whilst the preorganized cyclic part minimizes the energy barrier to complexation and inhibits decomplexation processes. So far, these chelators have been used exclusively with 44Sc and 68Ga only. Recent results with natCu predict high stabilities for Cu-AAZTA, yet no radioactive labeling of AAZTA or DATA with 64Cu or any additional radioactive isotope has been reported. We present the one pot synthesis of the bifunctional derivatives AAZTA5OMe and DATA5mOMe and their labeling with 64Cu. In addition, in vitro stability of the respective complexes are presented.
Wahrnehmung, Reputation und Image von Genossenschaften aus Sicht der deutschen Bevölkerung
Authors: Breuning Senta 
Published: February 2020

Zusammenfassung
Durch die Umsetzung von Werten und Kultur kann der Unternehmenserfolg und die Wahrnehmung gesteigert werden. Die Unternehmenskultur der eingetragenen Genossenschaft wird neben Werten und Prinzipien auch durch die ökonomische Selbsthilfe geprägt. Das Ziel des vorliegenden Beitrags ist es, herauszufinden, wie die deutsche Gesellschaft Genossenschaften wahrnimmt. Die Ergebnisse beruhen auf einer repräsentativen deutschlandweiten Onlinebefragung. Generell nimmt die deutsche Bevölkerung Genossenschaften gut und überwiegend positiv wahr. Eine geringere Wahrnehmung tritt bei Frauen und der jüngeren Generationen (Generation Y und Generation Z) auf.
Synthesis, characterization and morphotropic transitions in a family of M[(UO2)(CH3COO)3](H2O)
n
(M=Na, K, Rb, Cs; n=0–1.0) compounds
Authors: Kornyakov Ilya V. , Kalashnikova Sophia A. , Gurzhiy Vladislav V. , Britvin Sergey N. , Belova Elena V. , Krivovichev Sergey V. 
Published: February 2020

Abstract
Experimental investigations of crystallization in a family of uranyl triacetate compounds with Na, K, Rb and Cs were performed. The crystal structures of two novel Cs- and Rb-bearing tri(acetato)uranylates were solved, and the content of H2O molecules in the crystal structure of K-bearing uranyl triacetate was refined. Synthesized compounds were analyzed using IR spectroscopy and single-crystal X-ray diffraction. Crystal chemical analysis of the M[(UO2)(CH3COO)3](H2O)
n
family (M = Na, K, Rb, Cs; n = 0–1.0) reveals the sequence of structural transformations depending on the size of alkali cation resulting in the symmetry reduction from cubic P 213 (for Na), through tetragonal I 41/a (for K and Rb) to triclinic P 1̅ space groups (for Cs), which is in accordance with the principle of morphotropism, suggested by Paul von Groth, founder of the Zeitschrift für Krystallographie journal, in 1870.
Synthesis and Rheological Survey of Xanthan Gum Based Terpolymeric Hydrogels
Authors: Irfan Muhammad , Khan Mansoor , Rehman Tanzil ur , Ali Ijaz , Shah Luqman Ali , Khattak Noor Saeed , Khan Muhammad Salim 
Published: February 2020

Abstract
Graft copolymerization technique was used to synthesize novel biopolymer based terpolymeric hydrogels of xanthan gum (Gx), acrylic acid and N-Isopropyl acrylamide (NIPAM) by using chemical crosslinker N,N′-methylene bisacrylamide (MBA), ammonium persulphate (APS) as a redox initiator and sodium dodecyl sulphate (SDS) for particle size stabilization. The synthesized hydrogels were characterized through FT-IR and SEM techniques, which confirmed the hydrogels formation. Detailed rheology was investigated through applying various rheological models like Bingham model, modified Bingham model and Ostwald power law model to the hydrogels which revealed that the hydrogels were appeared to have shear thinning, non-Newtonian behavior and more elastic. Modified Bingham model provided best fit understanding to our prepared materials. The maximum activation energy (Ea) 13.87 kJ/mol was obtained for composition having more Gx compared to others, showing a strong relationship with viscosity. The hydrogels has potential to find applications in food industry, cosmetics, degradation of dyes and removal of heavy metals from waste water.
The Operant Plantar Thermal Assay: A Novel Device for Assessing Thermal Pain Tolerance in Mice
Authors: Reker Ashlie N. , Chen Sisi , Etter Katherine , Burger Taylor , Caudill Makayla , Davidson Steve 
Published: February 2020

AbstractPain is a multidimensional experience of sensory-discriminative, cognitive, and affective processes; however, current basic research methods rely heavily on response to threshold stimuli, bypassing the supraspinal processing that ultimately gives rise to the pain experience. We developed the operant plantar thermal assay (OPTA), which utilizes a novel, conflict-based operant task requiring evaluation and active decision-making to obtain reward under thermally aversive conditions to quantify thermal pain tolerance. In baseline measures, male and female mice exhibited similar temperature preferences, however in the OPTA, female mice exhibited greater temperature-dependent tolerance, as defined by choice time spent in an adverse thermal condition to obtain reward. Increasing reward salience (4% vs 10% sucrose solution) led to increased thermal tolerance for males but not females. To determine whether neuropathic and inflammatory pain models alter thermal tolerance, animals with chronic constriction injury (CCI) or complete Freund’s adjuvant (CFA), respectively, were tested in the OPTA. Surprisingly, neuropathic animals exhibited increased thermal tolerance, as shown by greater time spent in the reward zone in an adverse thermal condition, compared with sham animals. There was no effect of inflammation on thermal tolerance. Administration of clonidine in the CCI model led to increased thermal tolerance in both injured and sham animals. In contrast, the non-steroidal anti-inflammatory meloxicam was anti-hyperalgesic in the CFA model, but reduced thermal pain tolerance. These data support the feasibility of using the OPTA to assess thermal pain tolerance to gain new insights into complex pain behaviors and to investigate novel aspects of analgesic efficacy.
Sleep Differentially Affects Early and Late Neuronal Responses to Sounds in Auditory and Perirhinal Cortices
Authors: Sela Yaniv , Krom Aaron Joseph , Bergman Lottem , Regev Noa , Nir Yuval 
Published: February 2020

A fundamental feature of sleep is reduced behavioral responsiveness to external events, but the extent of processing along sensory pathways remains poorly understood. While responses are comparable across wakefulness and sleep in auditory cortex (AC), neuronal activity in downstream regions remains unknown. Here we recorded spiking activity in 435 neuronal clusters evoked by acoustic stimuli in the perirhinal cortex (PRC) and in AC of freely behaving male rats across wakefulness and sleep. Neuronal responses in AC showed modest (∼10%) differences in response gain across vigilance states, replicating previous studies. By contrast, PRC neuronal responses were robustly attenuated by 47% and 36% during NREM sleep and REM sleep, respectively. Beyond the separation according to cortical region, response latency in each neuronal cluster was correlated with the degree of NREM sleep attenuation, such that late (>40 ms) responses in all monitored regions diminished during NREM sleep. The robust attenuation of late responses prevalent in PRC represents a novel neural correlate of sensory disconnection during sleep, opening new avenues for investigating the mediating mechanisms.SIGNIFICANCE STATEMENTReduced behavioral responsiveness to sensory stimulation is at the core of sleep's definition, but it is still unclear how the sleeping brain responds differently to sensory stimuli. In the current study, we recorded neuronal spiking responses to sounds along the cortical processing hierarchy of rats during wakefulness and natural sleep. Responses in auditory cortex only showed modest changes during sleep, whereas sleep robustly attenuated the responses of neurons in high-level perirhinal cortex. We also found that, during NREM sleep, the response latency predicts the degree of sleep attenuation in individual neurons above and beyond their anatomical location. These results provide anatomical and temporal signatures of sensory disconnection during sleep and pave the way to understanding the underlying mechanisms.
Abundance Compensates Kinetics: Similar Effect of Dopamine Signals on D1 and D2 Receptor Populations
Authors: Hunger Lars , Kumar Arvind , Schmidt Robert 
Published: February 2020

The neuromodulator dopamine plays a key role in motivation, reward-related learning, and normal motor function. The different affinity of striatal D1 and D2 dopamine receptor types has been argued to constrain the D1 and D2 signaling pathways to phasic and tonic dopamine signals, respectively. However, this view assumes that dopamine receptor kinetics are instantaneous so that the time courses of changes in dopamine concentration and changes in receptor occupation are basically identical. Here we developed a neurochemical model of dopamine receptor binding taking into account the different kinetics and abundance of D1 and D2 receptors in the striatum. Testing a large range of behaviorally-relevant dopamine signals, we found that the D1 and D2 dopamine receptor populations responded very similarly to tonic and phasic dopamine signals. Furthermore, because of slow unbinding rates, both receptor populations integrated dopamine signals over a timescale of minutes. Our model provides a description of how physiological dopamine signals translate into changes in dopamine receptor occupation in the striatum, and explains why dopamine ramps are an effective signal to occupy dopamine receptors. Overall, our model points to the importance of taking into account receptor kinetics for functional considerations of dopamine signaling.SIGNIFICANCE STATEMENTCurrent models of basal ganglia function are often based on a distinction of two types of dopamine receptors, D1 and D2, with low and high affinity, respectively. Thereby, phasic dopamine signals are believed to mostly affect striatal neurons with D1 receptors, and tonic dopamine signals are believed to mostly affect striatal neurons with D2 receptors. This view does not take into account the rates for the binding and unbinding of dopamine to D1 and D2 receptors. By incorporating these kinetics into a computational model we show that D1 and D2 receptors both respond to phasic and tonic dopamine signals. This has implications for the processing of reward-related and motivational signals in the basal ganglia.
Drogas de abuso: série histórica de 2008 a 2018 das principais drogas analisadas na pericia de Roraima
Authors: Sousa Ana Célia , Jati Sewbert Rodrigues 
Published: February 2020

Drogas são substâncias químicas naturais ou sintéticas capazes de alterar o funcionamento dos organismos vivos, agindo em um órgão específico ou no organismo. Chamadas de drogas de abuso quando causam efeito psicoativo recreativo levando a dependência física ou psicológica. O objetivo desse trabalho foi de analisar o quantitativo de Exames Químicos de Identificação de Drogas de Abuso (2008 a 2018) realizados no Laboratório de Biologia e Química Forense do Instituto de Criminalística de Roraima. Os exames de 2008 a 2018, para cocaína e maconha foram: cocaína 4877 (x= 443,36±180,69), maconha 4572 (x= 415,64±225,80) com p=0,7518. Para cocaína verificou-se diferença entre os anos (p<0,001) com a formação de 3 grupos (i) 2008 e 20011, (ii) 2009, 2010, 2012 e 2013 e (iii) 2014 a 2018, demonstrando aumento progressivo nos 3 grupos, seguindo a tendência mundial. Já para maconha também houve diferença (p<0,001) e a formação de 3 grupos: (i) 2008 e 2019, (ii) 2010 a 2013 e (iii) 2014 a 2018, com aumento progressivo em cada um desses grupos; observamos ainda que ano a ano a demanda só foi aumentando, em média, ratificando a tendência mundial, sendo que sua produção está muito difundida, principalmente na América e na África. Evidenciamos assim o crescimento do consumo de cocaína e maconha no Estado de Roraima, bem como um maior consumo de cocaína em relação a maconha, apesar de discreto, indo na contramão da tendência mundial de a maconha ser a substância ilícita mais consumida.
Using Smartphone to Enhance Student’s Digital Art Literacy
Authors: Paramitha Ega Shintia Gaya 
Published: February 2020

Digital native students need digital art literacy to deal with the contemporary development of art and technology. This article illustrates how smartphone can be used as a powerful tool for that purpose. When student get bored with textual learning approach to study art, simply using smartphone could make learning practice more fun and meaningful. In this article, students in junior public high school 8 in Pare, East Java, grade 8, are directed to create a simple illustration using Sketchbook application on smartphone. It is quite simple, but the process behind the product was made student really enjoy and could express their artistic taste and expression. Thus, smartphone optimazion can be one way among others to encourage student’s digital art literacy which are more enjoyful and meaningful.
Abstrak
Siswa yang lahir di era digital membutuhkan literasi seni digital untuk menghadapi perkembangan seni dan teknologi kontemporer. Artikel ini menggambarkan bagaimana telepon pintar dapat diguankan sebagai media yang cukup kuat untuk menunjang tujuan tersebut. Ketika banyak siswa bosan dengan pembelajaran seni yang tekstual saja, cukup dengan menggunakan telepon pintar ternyata dapat membuat pembelajaran lebih menyenangkan dan bermakna. Pada artikel ini, siswa di Sekolah Menengah Pertama Negeri 8 di Pare, Jawa Timur, kelas 8, diarahkan untuk membuat karya seni berupa ilustrasi sederhana menggunakan aplikasi Sketchbook di telepon pintar. Hal ini cukup sederhana sebenarnya, namun proses di balik hasil akhir berupa produk ilustrasi tersebut telah benar-benar membuat siswa menikmati dan dapat mengekspresikan ekspresi dan selera seni masing-masing. Oleh karena itu, optimalisasi telepon pintar dapat menjadi salah satu di antara banyak cara lain untuk mendorong peningkatan literasi seni digital siswa yang lebih menyenangkan dan bermakna.