bluuebunny/crossref_metadata_2025_split huggingface dataset:
Identification of candidate genes and pathways in retinopathy of prematurity by whole exome sequencing of preterm infants enriched in phenotypic extremes
Authors: Kim Sang Jin , Sonmez Kemal , Swan Ryan , Campbell J. Peter , Ostmo Susan , Chan R. V. Paul , Nagiel Aaron , Drenser Kimberly A. , Berrocal Audina M. , Horowitz Jason D. , Li Xiaohui , Chen Yii-Der Ida , Taylor Kent D. , Simmons Charles , Rotter Jerome I. , Chiang Michael F. ,   Imaging and Informatics in Retinopathy of Prematurity (i-ROP) Research Consortium, Chiang Michael F. , Ostmo Susan , Kim Sang Jin , Sonmez Kemal , Campbell J. Peter , Chan R. V. Paul , Jonas Karyn , Horowitz Jason , Coki Osode , Eccles Cheryl-Ann , Sarna Leora , Orlin Anton , Berrocal Audina , Negron Catherin , Denser Kimberly , Cumming Kristi , Osentoski Tammy , Check Tammy , Zajechowski Mary , Lee Thomas , Kruger Evan , McGovern Kathryn , Simmons Charles , Murthy Raghu , Galvis Sharon , Rotter Jerome , Chen Ida , Li Xiaohui , Taylor Kent , Roll Kaye , Kalpathy-Cramer Jayashree , Erdogmus Deniz , Ioannidis Stratis , Martinez-Castellanos Maria Ana , Salinas-Longoria Samantha , Romero Rafael , Arriola Andrea , Olguin-Manriquez Francisco , Meraz-Gutierrez Miroslava , Dulanto-Reinoso Carlos M. , Montero-Mendoza Cristina 
Published: March 2021

AbstractRetinopathy of prematurity (ROP) is a vasoproliferative retinal disease affecting premature infants. In addition to prematurity itself and oxygen treatment, genetic factors have been suggested to predispose to ROP. We aimed to identify potentially pathogenic genes and biological pathways associated with ROP by analyzing variants from whole exome sequencing (WES) data of premature infants. As part of a multicenter ROP cohort study, 100 non-Hispanic Caucasian preterm infants enriched in phenotypic extremes were subjected to WES. Gene-based testing was done on coding nonsynonymous variants. Genes showing enrichment of qualifying variants in severe ROP compared to mild or no ROP from gene-based tests with adjustment for gestational age and birth weight were selected for gene set enrichment analysis (GSEA). Mean BW of included infants with pre-plus, type-1 or type 2 ROP including aggressive posterior ROP (n = 58) and mild or no ROP (n = 42) were 744 g and 995 g, respectively. No single genes reached genome-wide significance that could account for a severe phenotype. GSEA identified two significantly associated pathways (smooth endoplasmic reticulum and vitamin C metabolism) after correction for multiple tests. WES of premature infants revealed potential pathways that may be important in the pathogenesis of ROP and in further genetic studies.
Innovative granular formulation of Metarhizium robertsii microsclerotia and blastospores for cattle tick control
Authors: Marciano Allan Felipe , Mascarin Gabriel Moura , Franco Renato Felipe Ferreira , Golo Patrícia Silva , Jaronski Stefan T. , Fernandes Éverton Kort Kamp , Bittencourt Vânia Rita Elias Pinheiro 
Published: March 2021

AbstractThe tick Rhipicephalus microplus poses a serious threat to the cattle industry, resulting in economic losses aggravated by tick resistance to chemical acaricides. Strains of Metarhizium spp., a well-known group of entomopathogenic fungi, can contribute to managing this ectoparasite. We explored two novel granular, microsclerotia- or blastospores-based formulations of Metarhizium robertsii for R. microplus control under semi-field conditions. Fungal persistence in soil was also observed for 336 days. The experiment used pots of Urochloa decumbens cv. Basilisk grass, treated with 0.25 or 0.5 mg of granular formulation/cm2 (25 or 50 kg/ha) applied to the soil surface prior to transferring engorged tick females onto the treated soil. The fungal granules yielded more conidia with subsequent sporulation under controlled indoor conditions than in the outdoor environment, where the levels of fungus rapidly declined over time. Metarhizium-root colonization ranged from 25 to 66.7% depending on the propagule and rate. Fungal formulations significantly reduced the number of tick larvae during the humid season, reaching at least 64.8% relative efficacy. Microsclerotia or blastospores-granular formulations of M. robertsii can reduce the impact of R. microplus, and thus prove to be a promising tool in the control of ticks.
Horizontal bone augmentation and simultaneous implant placement using xenogeneic bone rings technique: a retrospective clinical study
Authors: Ding Yude , Wang Lianfei , Su Kuiwei , Gao Jinxing , Li Xiao , Cheng Gang 
Published: March 2021

AbstractThis study evaluated the use of bone ring technique with xenogeneic bone grafts in treating horizontal alveolar bone defects. In total, 11 patients in need of horizontal bone augmentation treatment before implant placement were included in this retrospective study. All patients received simultaneous bone augmentation surgery and implant placement with xenogeneic bone ring grafts. We evaluated the postoperative efficacy of the bone ring technique with xenogeneic bone grafts using radiographical and clinical parameters. Survival rates of implants were 100%. Cone-beam computed tomography revealed that the xenogeneic bone ring graft had significantly sufficient horizontal bone augmentation below the implant neck platform to 0 mm, 1 mm, 2 mm, and 3 mm. It could also provide an excellent peri-implant tissue condition during the 1-year follow-up after loading. The bone ring technique with xenogeneic bone ring graft could increase and maintain horizontal bone mass in the region of the implant neck platforms in serious horizontal bone defects.
Interaction between Borrelia miyamotoi variable major proteins Vlp15/16 and Vlp18 with plasminogen and complement
Authors: Schmidt Frederik L. , Sürth Valerie , Berg Tim K. , Lin Yi-Pin , Hovius Joppe W. , Kraiczy Peter 
Published: March 2021

AbstractBorrelia miyamotoi, a relapsing fever spirochete transmitted by Ixodid ticks causes B. miyamotoi disease (BMD). To evade the human host´s immune response, relapsing fever borreliae, including B. miyamotoi, produce distinct variable major proteins. Here, we investigated Vsp1, Vlp15/16, and Vlp18 all of which are currently being evaluated as antigens for the serodiagnosis of BMD. Comparative analyses identified Vlp15/16 but not Vsp1 and Vlp18 as a plasminogen-interacting protein of B. miyamotoi. Furthermore, Vlp15/16 bound plasminogen in a dose-dependent fashion with high affinity. Binding of plasminogen to Vlp15/16 was significantly inhibited by the lysine analog tranexamic acid suggesting that the protein–protein interaction is mediated by lysine residues. By contrast, ionic strength did not have an effect on binding of plasminogen to Vlp15/16. Of relevance, plasminogen bound to the borrelial protein cleaved the chromogenic substrate S-2251 upon conversion by urokinase-type plasminogen activator (uPa), demonstrating it retained its physiological activity. Interestingly, further analyses revealed a complement inhibitory activity of Vlp15/16 and Vlp18 on the alternative pathway by a Factor H-independent mechanism. More importantly, both borrelial proteins protect serum sensitive Borrelia garinii cells from complement-mediated lysis suggesting multiple roles of these two variable major proteins in immune evasion of B. miyamotoi.
Geographical distribution and regional differences in 532 clinical isolates of rapidly growing mycobacterial species in Japan
Authors: Kamada Keisuke , Yoshida Atsushi , Iguchi Shigekazu , Arai Yuko , Uzawa Yutaka , Konno Satoshi , Shimojima Masahiro , Kikuchi Ken 
Published: March 2021

AbstractInfectious diseases caused by nontuberculous mycobacteria (NTM) are increasingly becoming a major global problem. Additionally, Mycobacteroides abscessus subsp. abscessus (MAB) infections are refractory to macrolides. This study was conducted to investigate the epidemiology of rapidly growing mycobacteria (RGM) species isolated from clinical specimens in Japan and assess differences in the regional distribution of lower respiratory specimens (LRS)- and non-lower respiratory specimens (NLRS)-derived species. 532 strains (427 LRS, 92 NLRS and 15 unknown specimens) were isolated in nine areas of Japan. We collected 418 specimens from Bio Medical Laboratories (BML), Inc., and 114 specimens from 45 hospitals in Japan. Their epidemiological differences were examined according to the specimen type, region, and climate. Fifteen species were identified. The proportion of M. abscessus group (MAG) strains was significantly lower in NLRS than in LRS (35.9% vs. 68.4%). The proportion of MAG strains was higher in northern Japan than in other regions (83.7% vs. 60.5%). Variations in strain abundance among RGM species was evident in regions with a mean annual temperature below 15 °C. We conclude that the proportions of MAG strains differed between NLRS and LRS in Japan. In addition, the mean annual temperature likely influenced the distribution of RGM species.
COVID-19 salivary Raman fingerprint: innovative approach for the detection of current and past SARS-CoV-2 infections
Authors: Carlomagno C. , Bertazioli D. , Gualerzi A. , Picciolini S. , Banfi P. I. , Lax A. , Messina E. , Navarro J. , Bianchi L. , Caronni A. , Marenco F. , Monteleone S. , Arienti C. , Bedoni M. 
Published: March 2021

AbstractThe pandemic of COVID-19 is continuously spreading, becoming a worldwide emergency. Early and fast identification of subjects with a current or past infection must be achieved to slow down the epidemiological widening. Here we report a Raman-based approach for the analysis of saliva, able to significantly discriminate the signal of patients with a current infection by COVID-19 from healthy subjects and/or subjects with a past infection. Our results demonstrated the differences in saliva biochemical composition of the three experimental groups, with modifications grouped in specific attributable spectral regions. The Raman-based classification model was able to discriminate the signal collected from COVID-19 patients with accuracy, precision, sensitivity and specificity of more than 95%. In order to translate this discrimination from the signal-level to the patient-level, we developed a Deep Learning model obtaining accuracy in the range 89–92%. These findings have implications for the creation of a potential Raman-based diagnostic tool, using saliva as minimal invasive and highly informative biofluid, demonstrating the efficacy of the classification model.
Oscillations in deep-open-cells during winter Mediterranean cyclones
Authors: Liu Huan , Koren Ilan , Altaratz Orit , Heiblum Reuven H. , Khain Pavel , Ouyang Xiaoran , Guo Jianping 
Published: March 2021

AbstractOpen cloud cells can be described in ideal form as connected clouds that surround spots of isolated clear skies in their centers. This cloud pattern is typically associated with marine stratocumulus (MSc) that form in the oceanic boundary layer. However, it can form in deeper convective clouds as well. Here, we focus on deep-open-cells (with tops reaching up to ~5–7 km) that form in the post-frontal regions of winter Mediterranean cyclones, and examine their properties and evolution. Using a Lagrangian analysis of satellite data, we show that deep-open-cells have a larger equivalent diameter (~58 ± 18 km) and oscillate with a longer periodicity (~3.5 ± 1 h) compared to shallow MSc. A numerical simulation of one Cyprus low event reveals that precipitation-generated convergence and divergence dynamic patterns are the main driver of the open cells’ organization and oscillations. Thus, our findings generalize the mechanism attributed to the behavior of shallow marine cells to deeper convective systems.
Identification of genetic factors influencing metabolic dysregulation and retinal support for MacTel, a retinal disorder
Authors: Bonelli Roberto , Jackson Victoria E. , Prasad Aravind , Munro Jacob E. , Farashi Samaneh , Heeren Tjebo F. C. , Pontikos Nikolas , Scheppke Lea , Friedlander Martin ,   MacTel Consortium, Egan Catherine A. , Allikmets Rando , Ansell Brendan R. E. , Bahlo Melanie 
Published: March 2021

AbstractMacular Telangiectasia Type 2 (MacTel) is a rare degenerative retinal disease with complex genetic architecture. We performed a genome-wide association study on 1,067 MacTel patients and 3,799 controls, which identified eight novel genome-wide significant loci (p < 5 × 10−8), and confirmed all three previously reported loci. Using MAGMA, eQTL and transcriptome-wide association analysis, we prioritised 48 genes implicated in serine-glycine biosynthesis, metabolite transport, and retinal vasculature and thickness. Mendelian randomization indicated a likely causative role of serine (FDR = 3.9 × 10−47) and glycine depletion (FDR = 0.006) as well as alanine abundance (FDR = 0.009). Polygenic risk scoring achieved an accuracy of 0.74 and was associated in UKBiobank with retinal damage (p = 0.009). This represents the largest genetic study on MacTel to date and further highlights genetically-induced systemic and tissue-specific metabolic dysregulation in MacTel patients, which impinges on retinal health.
HbA1c in der Diabetesdiagnostik
Authors: Landgraf Rüdiger 
Published: March 2021

ZUSAMMENFASSUNGGlykiertes Hämoglobin (HbA1c) ist ein Maß für die Stoffwechseleinstellung und als Prädiktor für die Entwicklung diabetischer Komplikationen und als primärer Endpunkt für Interventionsstudien eingeführt. Seit 2010 wird HbA1c auch als ein Diagnoseinstrument von vielen Fachgesellschaften und Organisationen wie der WHO und IDF eingesetzt. Trotz Standardisierung (IFCC-Standard) und Verbesserung der Bestimmungsmethoden, die insbesondere für die Diagnostik von großer Bedeutung sind, schwankt die Messgenauigkeit erheblich und erst kürzlich hat die Bundesärztekammer die Richtlinien (Rili-BÄK) für die analytische Richtigkeit und Präzision der HbA1c-Messung deutlich verschärft. HbA1c als ein zu Glukoseparametern alternativer/alleiniger Laborparameter ist für die Diabetesdiagnose zu wenig sensitiv. Zahlreiche Störfaktoren und unzählige in der Routinediagnostik kaum zu überschauende und zum Teil kaum bestimmbare Einflussfaktoren limitieren den Einsatz von HbA1c als Diagnoseinstrument. Der HbA1c- Schwellenwert von ≥ 48 mmol/mol Hb (≥ 6,5 %) ist ein expertenkonsentierter, viel zu hoher Wert, um in der Frühphase einen manifesten Diabetes auszuschließen. Daher sollten immer Glukoseparameter plus HbA1c gleichzeitig zur Diagnostik bestimmt werden.
Wechselwirkungen zwischen neuroendokrinem System und Immunsystem bei chronisch-entzündlichen Systemerkrankungen
Authors: Günther Florian , Fleck Martin , Straub Rainer 
Published: March 2021

ZusammenfassungHormonelle und neuronale Signalwege können die Manifestation einer chronisch-entzündlichen Systemerkrankung entweder begünstigen oder verhindern. Bei bereits manifester Erkrankung modulieren Hormone und Neurotransmitter den Krankheitsverlauf, in dem sie die Krankheitsaktivität erhöhen oder abschwächen. Beispiele hierfür sind der entzündungshemmende Einfluss der körpereigenen und exogenen Glukokortikoide und die entzündungsfördernden Effekte von Stress bei chronisch-entzündlichen Systemerkrankungen. Bei chronisch-entzündlichen Systemerkrankungen ringt das aktivierte Immunsystem mit dem Gehirn und anderen Organsystemen um Energie, was zu vielfältigen Erkrankungsfolgen und Folgeerkrankungen führt: „sickness behaviour“ mit Fatigue-Symptomatik und depressiven Symptomen, Schlafstörungen, Anorexie, Fehl- und Mangelernährung, Knochenabbau, Muskelabbau und kachektische Fettsucht, Insulinresistenz mit Hyperinsulinämie (begleitet von einer Resistenz gegenüber dem Insulin-like growth factor 1), Dyslipidämie, Veränderungen der Steroidhormonachsen, Störungen der Hypothalamus-Hypophysen-Gonaden-Achse, erhöhter Sympathikotonus, herabgesetzte Aktivität des parasympathischen Nervensystems, arterielle Hypertonie und Volumenbelastung, Entzündungsanämie und zirkadiane Rhythmik der Symptomausprägung. Diese für die Patienten gravierenden Folgeerkrankungen, welche den chronisch-entzündlichen Systemerkrankungen inhärent sind, sollten konsequent therapiert werden.
Comparative studies on the structural, magnetic, and optical properties of perovskite Ln0.67Ca0.33MnO3 (Ln = La, Pr, Nd, and Sm) manganite nanoparticles synthesized by sol–gel method
Authors: Xia Weiren , Leng Kai , Tang Qingkai , Yang Li , Xie Yuting , Wu Zhiwei , Zhu Xinhua 
Published: March 2021

Comparative studies of the structural, magnetic, and optical properties of the sol–gel synthesized Ln0.67Ca0.33MnO3 (Ln = La, Pr, Nd, and Sm) nanoparticles were carried out focusing on the effect of the A-site average cation size ⟨rA⟩. Rietveld refinements of x-ray diffraction data demonstrate all nanoparticles crystallize in an orthorhombic crystal structure (Pnma space group). Their unit cell volumes and the Mn–O–Mn bond angle decreased with reducing ⟨rA⟩, whereas the Mn–O bond length increased. The morphologies of nanoparticles evolved from spherical to irregular shapes, and their single-crystalline nature was confirmed by HRTEM images. Infrared spectra identified the stretching mode of the Mn–O bond near 600 cm−1, and the softening of this phonon mode as reducing ⟨rA⟩ is ascribed to the elongation of the Mn–O bond length. X-ray photoelectron spectroscopy reveals the mixed Mn3+ and Mn4+ cations with a content ratio of Mn3+/Mn4+ = 2:1, divalent Ca cations, and trivalent rare earth Ln cations in all nanoparticles and oxygen element existing as lattice oxygen and chemically absorbed oxygen. The La0.67Ca0.33MnO3 nanoparticles exhibited ferromagnetic behavior, whereas Ln0.67Ca0.33MnO3 (Ln = Pr, Nd, and Sm) nanoparticles displayed antiferromagnetic behavior and strong exchange bias effect. Temperature dependence of dc magnetizations suggests the spin-glass behavior established in the La0.67Ca0.33MnO3 nanoparticles, while magnetic cluster-glass behavior formed in the Ln0.67Ca0.33MnO3 (Ln = Pr, Nd, and Sm) nanoparticles, in which the charge-ordered and antiferromagnetic phases were completely suppressed. Electronic bandgaps of the nanoparticles were about 1.55 eV–1.66 eV, which was ascribed to the electronic charge transfer between two eg bands of the Mn cation with up-spins and down-spins separated by Hund’s coupling energy.
Dysregulation of myelin synthesis and actomyosin function underlies aberrant myelin in CMT4B1 neuropathy
Authors: Guerrero-Valero Marta , Grandi Federica , Cipriani Silvia , Alberizzi Valeria , Di Guardo Roberta , Chicanne Gaetan , Sawade Linda , Bianchi Francesca , Del Carro Ubaldo , De Curtis Ivan , Pareyson Davide , Parman Yesim , Schenone Angelo , Haucke Volker , Payrastre Bernard , Bolino Alessandra 
Published: March 2021

SignificanceCharcot-Marie-Tooth type 4B1 (CMT4B1) is a very severe demyelinating neuropathy with childhood onset, characterized by myelin outfoldings, a pathological aberrant form of myelination. This morphology may be the consequence of an excessive longitudinal growth of the myelinated internode during postnatal nerve development. We first demonstrated that loss of MTMR2 (Myotubularin-related 2) phosphatase causes CMT4B1. MTMR2 dephosphorylates phospholipids, important regulators of membrane trafficking, which is a key process in Schwann cells, the myelinating cells in the PNS. However, why loss of MTMR2 provokes CMT4B1 remains to be assessed. Here we propose a mechanism by which MTMR2, by regulating PtdIns(3,5)P2phosphoinositide levels, coordinates myelin synthesis and RhoA/myosin II-dependent cytoskeletal dynamics necessary to expand the membrane and promote myelin growth.
Study of transverse spherocity and azimuthal anisotropy in Pb–Pb collisions at

sNN=5.02

TeV using a multi-phase transport model
Authors: Mallick Neelkamal , Sahoo Raghunath , Tripathy Sushanta , Ortiz Antonio 
Published: March 2021

Abstract
Transverse spherocity is an event shape observable having a unique capability to separate the events based on their geometrical shapes. Recent results from experiments at the LHC suggest that transverse spherocity is an important event classifier in small collision systems. In this work, we use transverse spherocity for the first time in heavy-ion collisions and perform an extensive study on azimuthal anisotropy of charged particles produced in Pb–Pb collisions at

s

NN

=
5.02

TeV using a multi-phase transport model (AMPT). The azimuthal anisotropy is estimated using the two-particle correlation method, which suppresses the non-flow effects significantly with an appropriate pseudorapidity gap of particle pairs. The results from AMPT are compared with estimations from PYTHIA8 (Angantyr) model and it is found that with the chosen pseudorapidity gap, the residual non-flow effects become negligible. We found that the high spherocity events have nearly zero elliptic flow while low spherocity events contribute significantly to elliptic flow of spherocity-integrated events.
Fabrication and non-destructive characterization of through-plastic-via (TPV) in flexible hybrid electronics
Authors: Sondhi Kartik , Avuthu Sai Guruva Reddy , Richstein Jörg , Fan Z Hugh , Nishida Toshikazu 
Published: March 2021

Abstract
Flexible hybrid electronics (FHE) have been gaining interest in recent years as this technology has the potential to become a low-cost, mechanically pliable sister technology for multilayer printed circuit boards (PCBs). One of the limitations of rigid PCB is low endurance to mechanical bending, this limitation poses a threat to the efficacy for wearable applications. During bending, a substrate experiences both compressive and tensile stress. These stresses are similar in magnitude but opposite in direction. This difference in directionality creates a non-linear stress gradient in a via which impacts the structural integrity, endurance and bending reliability of a circuit during its operation. Additionally, as flexible substrates can be bent to a higher bending radius, the magnitude of maximum extrinsic stresses observed on flexible substrates could be higher than the stress observed on rigid substrates. Hence, the reliability and mechanical compliance of through-hole-plastic-vias for reliable flexible circuits need to be understood. In this study, we have developed a process to create vias on flexible substrates using a rapid commercial laser (Nd-YaG laser) to study the effects on via resistance due to three different variables—bending stresses, via diameter and via length. A novel non-destructive approach (CT-scanner) was used to scan the via structures and determine the filling for all via diameters from 50 to 450 µm and via lengths of 7, 10 mils. Two different configurations of vias were used to measure and analyze the effect of mechanical cycling on via resistance and via filling. This demonstration of electrical and mechanical testing of vias and novel methodologies for via filling, and via electrical resistance can contribute to better design and fabrication guidelines of multi-layer FHE circuits.
On complete reducibility of tensor products of simple modules over simple algebraic groups
Authors: Gruber Jonathan 
Published: March 2021

Let

G
G

be a simply connected simple algebraic group over an algebraically closed field

k
k

of characteristic

p
>
0

p>0

. The category of rational

G
G

-modules is not semisimple. We consider the question of when the tensor product of two simple

G
G

-modules

L
(
λ
)

L(\lambda )

and

L
(
μ
)

L(\mu )

is completely reducible. Using some technical results about weakly maximal vectors (i.e. maximal vectors for the action of the Frobenius kernel

G
1

G_1

of

G
G

) in tensor products, we obtain a reduction to the case where the highest weights

λ
\lambda

and

μ
\mu

are

p
p

-restricted. In this case, we also prove that

L
(
λ
)
⊗
L
(
μ
)

L(\lambda )\otimes L(\mu )

is completely reducible as a

G
G

-module if and only if

L
(
λ
)
⊗
L
(
μ
)

L(\lambda )\otimes L(\mu )

is completely reducible as a

G
1

G_1

-module.