bluuebunny/crossref_metadata_2025_split huggingface dataset:
Developmental demands contribute to early neuromuscular degeneration in CMT2D mice
Authors: Sleigh James N. , Mech Aleksandra M. , Schiavo Giampietro 
Published: July 2020

AbstractDominantly inherited, missense mutations in the widely expressed housekeeping gene,GARS1, cause Charcot-Marie-Tooth type 2D (CMT2D), a peripheral neuropathy characterised by muscle weakness and wasting in limb extremities. Mice modelling CMT2D display early and selective neuromuscular junction (NMJ) pathology, epitomised by disturbed maturation and neurotransmission, leading to denervation. Indeed, the NMJ disruption has been reported in several different muscles; however, a systematic comparison of neuromuscular synapses from distinct body locations has yet to be performed. We therefore analysed NMJ development and degeneration across five different wholemount muscles to identify key synaptic features contributing to the distinct pattern of neurodegeneration in CMT2D mice. Denervation was found to occur along a distal-to-proximal gradient, providing a cellular explanation for the greater weakness observed in mutantGarshindlimbs compared with forelimbs. Nonetheless, muscles from similar locations and innervated by axons of equivalent length showed significant differences in neuropathology, suggestive of additional factors impacting on site-specific neuromuscular degeneration. Defective NMJ development preceded and associated with degeneration, but was not linked to a delay of wild-type NMJ maturation processes. Correlation analyses indicate that muscle fibre type nor synaptic architecture explain the differential denervation of CMT2D NMJs, rather it is the extent of post-natal synaptic growth that predisposes to neurodegeneration. Together, this work improves our understanding of the mechanisms driving synaptic vulnerability in CMT2D and hints at pertinent pathogenic pathways.
Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy
Authors: Lee Yu-Ri , Khan Kamal , Armfield-Uhas Kim , Srikanth Sujata , Thompson Nicola A. , Pardo Mercedes , Yu Lu , Norris Joy W. , Peng Yunhui , Gripp Karen W. , Aleck Kirk A. , Li Chumei , Spence Ed , Choi Tae-Ik , Kwon Soo Jeong , Park Hee-Moon , Yu Daseuli , Heo Won Do , Mooney Marie R. , Baig Shahid M. , Wentzensen Ingrid M. , Telegrafi Aida , McWalter Kirsty , Moreland Trevor , Roadhouse Chelsea , Ramsey Keri , Lyons Michael J. , Skinner Cindy , Alexov Emil , Katsanis Nicholas , Stevenson Roger E. , Choudhary Jyoti S. , Adams David J. , Kim Cheol-Hee , Davis Erica E. , Schwartz Charles E. 
Published: July 2020

AbstractIntellectual disability (ID) is a heterogeneous clinical entity and includes an excess of males who harbor variants on the X-chromosome (XLID). We report rare FAM50A missense variants in the original Armfield XLID syndrome family localized in Xq28 and four additional unrelated males with overlapping features. Our fam50a knockout (KO) zebrafish model exhibits abnormal neurogenesis and craniofacial patterning, and in vivo complementation assays indicate that the patient-derived variants are hypomorphic. RNA sequencing analysis from fam50a KO zebrafish show dysregulation of the transcriptome, with augmented spliceosome mRNAs and depletion of transcripts involved in neurodevelopment. Zebrafish RNA-seq datasets show a preponderance of 3′ alternative splicing events in fam50a KO, suggesting a role in the spliceosome C complex. These data are supported with transcriptomic signatures from cell lines derived from affected individuals and FAM50A protein-protein interaction data. In sum, Armfield XLID syndrome is a spliceosomopathy associated with aberrant mRNA processing during development.
Astrocytes modulate sensory-evoked neuronal network activity
Authors: Lines Justin , Martin Eduardo D. , Kofuji Paulo , Aguilar Juan , Araque Alfonso 
Published: July 2020

AbstractWhile neurons principally mediate brain function, astrocytes are emerging as cells with important neuromodulatory actions in brain physiology. In addition to homeostatic roles, astrocytes respond to neurotransmitters with calcium transients stimulating the release of gliotransmitters that regulate synaptic and neuronal functions. We investigated astrocyte-neuronal network interactions in vivo by combining two-photon microscopy to monitor astrocyte calcium and electrocorticogram to record neuronal network activity in the somatosensory cortex during sensory stimulation. We found astrocytes respond to sensory stimuli in a stimulus-dependent manner. Sensory stimuli elicit a surge of neuronal network activity in the gamma range (30–50 Hz) followed by a delayed astrocyte activity that dampens the steady-state gamma activity. This sensory-evoked gamma activity increase is enhanced in transgenic mice with impaired astrocyte calcium signaling and is decreased by pharmacogenetic stimulation of astrocytes. Therefore, cortical astrocytes respond to sensory inputs and regulate sensory-evoked neuronal network activity maximizing its dynamic range.
Direct visualization of irreducible ferrielectricity in crystals
Authors: Du Kai , Guo Lei , Peng Jin , Chen Xing , Zhou Zheng-Nan , Zhang Yang , Zheng Ting , Liang Yan-Ping , Lu Jun-Peng , Ni Zhen-Hua , Wang Shan-Shan , Van Tendeloo Gustaaf , Zhang Ze , Dong Shuai , Tian He 
Published: July 2020

AbstractIn solids, charge polarity can one-to-one correspond to spin polarity phenomenologically, e.g., ferroelectricity/ferromagnetism, antiferroelectricity/antiferromagnetism, and even dipole-vortex/magnetic-vortex, but ferrielectricity/ferrimagnetism kept telling a disparate story in microscopic level. Since the definition of a charge dipole involves more than one ion, there may be multiple choices for a dipole unit, which makes most ferrielectric orders equivalent to ferroelectric ones, i.e., this ferrielectricity is not necessary to be a real independent branch of polarity. In this work, by using the spherical aberration-corrected scanning transmission electron microscope, we visualize a nontrivial ferrielectric structural evolution in BaFe2Se3, in which the development of two polar sub-lattices is out-of-sync, for which we term it as irreducible ferrielectricity. Such irreducible ferrielectricity leads to a non-monotonic behavior for the temperature-dependent polarization, and even a compensation point in the ordered state. Our finding unambiguously distinguishes ferrielectrics from ferroelectrics in solids.
Waterborne pathogen monitoring in Jaipur, India reveals potential microbial risks of urban groundwater supply
Authors: Bivins Aaron , Lowry Sarah , Murphy Heather M. , Borchardt Mark , Coyte Rachel , Labhasetwar Pawan , Brown Joe 
Published: July 2020

AbstractThe Sustainable Development Goals require that 100 mL water samples contain no culturable E. coli to classify a water supply as “safely managed” from a microbial perspective. But small volume sampling is often insufficient for detecting microbial risks. We used culture-based measures of total coliforms and E. coli along with dead-end ultrafiltration (DEUF) and droplet digital PCR (ddPCR) to assess the microbial water quality of an urban water supply in Jaipur, India. Despite the absence of culturable E. coli in 90% of the 100 mL grab samples (n = 20) during the 10-day sampling period, we detected genes associated with protozoan and bacterial pathogens (Giardia, Cryptosporidium, and enterotoxigenic E. coli) in 3 DEUF samples of groundwater (n = 9; volume 59 to 122.4 liters). Of the three groundwater samples positive for waterborne pathogens, two were associated with 100 mL grab samples that were negative for culturable E. coli. Methods with improved analytical sensitivity, such as DEUF and ddPCR, can detect evidence of pathogens in drinking water supplies and supplement conventional culture-based methods to better inform pathogen-specific risk assessment and management.
Egg size and fecundity of biannually spawning corals at Scott Reef
Authors: Foster Taryn , Gilmour James 
Published: July 2020

AbstractEgg size and fecundity are often used as proxies for coral reproductive success and health. The amount of energy a coral invests in reproduction reflects its environmental conditions during gametogenesis. Additionally, assuming resources for reproduction are limited, it is thought that an increase in egg size should result in a decrease in the number of eggs produced i.e. investing in many small eggs or fewer larger eggs. The biannually spawning populations of Scott Reef offer a unique opportunity to compare the egg size and polyp fecundity of corals exposed to different environmental conditions during gametogenesis, prior to spawning in autumn (March) and spring (October). In this study, we investigated the relationship between egg size and polyp fecundity within and between seven Acropora species from 2008 to 2010. We also quantified the fecundity and egg size of four Acropora species that spawn during both autumn and spring (2008–2010). We found no seasonal variability in egg size and fecundity in the species studied here, possibly as a result of a summer light regime being impacted by high cloud cover in cyclone season. There was high natural variability and no apparent trade-off between egg size and fecundity, both within and between each species. These findings challenge the assumption that egg size and fecundity are negatively correlated, or that a simple, energetically constrained trade-off exists between the two.
Trajectory analysis quantifies transcriptional plasticity during macrophage polarization
Authors: Liu Serena X. , Gustafson Heather H. , Jackson Dana L. , Pun Suzie H. , Trapnell Cole 
Published: July 2020

AbstractIn recent years, macrophages have been shown to be tremendously plastic in both in vitro and in vivo settings; however, it remains unclear whether macrophages retain any persistent memory of past polarization states which may then impact their future repolarization to new states. Here, we perform deep transcriptomic profiling at high temporal resolution as macrophages are polarized with cytokines that drive them into “M1” and “M2” molecular states. We find through trajectory analysis of their global transcriptomic profiles that macrophages which are first polarized to M1 or M2 and then subsequently repolarized demonstrate little to no memory of their polarization history. We observe complete repolarization both from M1 to M2 and vice versa, and we find that macrophage transcriptional phenotypes are defined by the current cell microenvironment, rather than an amalgamation of past and present states.
Association of dietary patterns with serum phosphorus in maintenance haemodialysis patients: a cross-sectional study
Authors: Khor Ban-Hock , Sualeheen Ayesha , Sahathevan Sharmela , Chinna Karuthan , Gafor Abdul Halim Abdul , Bavanandan Sunita , Goh Bak-Leong , Morad Zaki , Daud Zulfitri Azuan Mat , Khosla Pramod , Wang Angela Yee-Moon , Karupaiah Tilakavati ,   PaTCH Investigators, Bee Boon Cheak , Ahmad Ghazali , Lim Soo Kun , Wahab Mohammad Zaimi Abdul , Visvanathan Ravindran , Yahya Rosnawati 
Published: July 2020

AbstractSources of dietary phosphate differentially contribute to hyperphosphatemia in maintenance haemodialysis (MHD) patients. This cross-sectional study in Malaysia investigated association between dietary patterns and serum phosphorus in MHD patients. Dietary patterns were derived by principal component analysis, based on 27 food groups shortlisted from 3-day dietary recalls of 435 MHD patients. Associations of serum phosphorus were examined with identified dietary patterns. Three dietary patterns emerged: Home foods (HFdp), Sugar-sweetened beverages (SSBdp), and Eating out noodles (EO-Ndp). The highest tertile of patients in HF (T3-HFdp) pattern significantly associated with higher intakes of total protein (p = 0.002), animal protein (p = 0.001), and animal-based organic phosphate (p < 0.001), whilst T3-SSBdp patients had significantly higher intakes of total energy (p < 0.001), inorganic phosphate (p < 0.001), and phosphate:protein ratio (p = 0.001). T3-EO-Ndp patients had significantly higher intakes of total energy (p = 0.033), total protein (p = 0.003), plant protein (p < 0.001), but lower phosphate:protein ratio (p = 0.009). T3-SSBdp patients had significantly higher serum phosphorus (p = 0.006). The odds ratio of serum phosphorous > 2.00 mmol/l was significantly 2.35 times higher (p = 0.005) with the T3-SSBdp. The SSBdp was associated with greater consumption of inorganic phosphate and higher serum phosphorus levels.
Highly nonlinear magnetoelectric effect in buckled-honeycomb antiferromagnetic Co4Ta2O9
Authors: Lee Nara , Oh Dong Gun , Choi Sungkyun , Moon Jae Young , Kim Jong Hyuk , Shin Hyun Jun , Son Kwanghyo , Nuss Jürgen , Kiryukhin Valery , Choi Young Jai 
Published: July 2020

AbstractStrongly correlated materials with multiple order parameters provide unique insights into the fundamental interactions in condensed matter systems and present opportunities for innovative technological applications. A class of antiferromagnetic honeycomb lattices compounds, A4B2O9 (A = Co, Fe, Mn; B = Nb, Ta), have been explored owing to the occurrence of linear magnetoelectricity. From our investigation of magnetoelectricity on single crystalline Co4Ta2O9, we discovered strongly nonlinear and antisymmetric magnetoelectric behavior above the spin-flop transition for magnetic fields applied along two orthogonal in-plane directions. This observation suggests that two types of inequivalent Co2+ sublattices generate magnetic-field-dependent ferroelectric polarization with opposite signs. The results motivate fundamental and applied research on the intriguing magnetoelectric characteristics of these buckled-honeycomb lattice materials.
Substantial blue carbon in overlooked Australian kelp forests
Authors: Filbee-Dexter Karen , Wernberg Thomas 
Published: July 2020

AbstractRecognition of the potential for vegetated coastal ecosystems to store and sequester carbon has led to their increasing inclusion into global carbon budgets and carbon offset schemes. However, kelp forests have been overlooked in evaluations of this ‘blue carbon’, which have been limited to tidal marshes, mangrove forests, and seagrass beds. We determined the continental-scale contribution to blue carbon from kelp forests in Australia using areal extent, biomass, and productivity measures from across the entire Great Southern Reef. We reveal that these kelp forests represent 10.3–22.7 Tg C and contribute 1.3–2.8 Tg C year−1 in sequestered production, amounting to more than 30% of total blue carbon stored and sequestered around the Australian continent, and ~ 3% of the total global blue carbon. We conclude that the omission of kelp forests from blue carbon assessments significantly underestimates the carbon storage and sequestration potential from vegetated coastal ecosystems globally.
Soluble Klotho, a biomarker and therapeutic strategy to reduce bronchopulmonary dysplasia and pulmonary hypertension in preterm infants
Authors: Batlahally Sunil , Franklin Andrew , Damianos Andreas , Huang Jian , Chen Pingping , Sharma Mayank , Duara Joanne , Keerthy Divya , Zambrano Ronald , Shehadeh Lina A. , Martinez Eliana C. , DeFreitas Marissa J. , Kulandavelu Shathiyah , Abitbol Carolyn L. , Freundlich Michael , Kanashiro-Takeuchi Rosemeire M. , Schmidt Augusto , Benny Merline , Wu Shu , Mestan Karen K. , Young Karen C. 
Published: July 2020

AbstractPreterm infants with bronchopulmonary dysplasia (BPD) and pulmonary hypertension (PH) have accelerated lung aging and poor long-term outcomes. Klotho is an antiaging protein that modulates oxidative stress, angiogenesis and fibrosis. Here we test the hypothesis that decreased cord Klotho levels in preterm infants predict increased BPD–PH risk and early Klotho supplementation prevents BPD-like phenotype and PH in rodents exposed to neonatal hyperoxia. In experiment 1, Klotho levels were measured in cord blood of preterm infants who were enrolled in a longitudinal cohort study. In experiment 2, using an experimental BPD–PH model, rat pups exposed to room air or hyperoxia (85% O2) were randomly assigned to receive every other day injections of recombinant Klotho or placebo. The effect of Klotho on lung structure, PH and cardiac function was assessed. As compared to controls, preterm infants with BPD or BPD–PH had decreased cord Klotho levels. Early Klotho supplementation in neonatal hyperoxia-exposed rodents preserved lung alveolar and vascular structure, attenuated PH, reduced pulmonary vascular remodeling and improved cardiac function. Together, these findings have important implications as they suggest that perinatal Klotho deficiency contributes to BPD–PH risk and strategies that preserve Klotho levels, may improve long-term cardiopulmonary outcomes in preterm infants.
Strain-enhanced Dzyaloshinskii–Moriya interaction at Co/Pt interfaces
Authors: Deger Caner 
Published: July 2020

AbstractThe interfacial Dzyaloshinskii–Moriya interaction (DMI) is an essential ingredient for stabilizing chiral spin configurations in spintronic applications. Here, via first-principles calculations, we reveal the influence of lattice strain on DMI in Co/Pt interface. We observed a considerable enhancement for a certain lattice strain. Furthermore, a direct correlation is established between the DMI and interlayer distances dominated by the strain, which is attributed to a hybridization of electronic orbitals. This hybridization has also been presented as the microscopic origin of the interfacial DMI. We anticipate that our predictions provide new insights into the control of interfacial DMI for skyrmion-based spintronic devices.
High PD-L1 expression is associated with therapeutic response to pembrolizumab in patients with advanced biliary tract cancer
Authors: Ahn Soomin , Lee Jong-chan , Shin Dong Woo , Kim Jaihwan , Hwang Jin-Hyeok 
Published: July 2020

AbstractPembrolizumab appears promising for patients with programmed cell death ligand-1 (PD-L1)-positive solid tumors. However, data on immunotherapy for biliary tract cancers (BTC) are limited. We aimed to investigate the predictive value of PD-L1 expression as an immunotherapeutic biomarker in BTC. Patients with advanced BTC (n = 175) were screened for PD-L1 expression using PharmDx assay and microsatellite instability (MSI) status. Of the total of 175 patients, 125 (71%) showed tumoral PD-L1 positivity (≥ 1%) while only two (2/142, 1.4%) showed MSI-High. Among 175 patients, 26 patients were treated with pembrolizumab as a second-line therapy, and tumor response was evaluated. Separating these patients into two groups by PD-L1 expression (high [≥ 50%] vs. low [< 50%]), overall response rate was 23% (56% [5/9] in high PD-L1 group vs. 6% [1/17] in low PD-L1 group, P = 0.004). Disease control rate was also higher in high PD-L1 group (78% vs. 35%, P = 0.019). The six responders showed median progression-free survival of 5.8 months after starting pembrolizumab, and none of them was MSI-High. High PD-L1 expression was associated with a better response to pembrolizumab. PD-L1 expression can potentially serve as an alternative predictive biomarker for pembrolizumab therapy in advanced BTC.
Thorakoskopische Sympathektomie bei palmarer und axillärer Hyperhidrosis
Authors: Rohleder Stephan , Münsterer Oliver , Gödeke Jan 
Published: July 2020

Zusammenfassung
Zielsetzung Der vorliegende Beitrag zeigt Schritt für Schritt die thorakoskopische Sympathektomie bei primär fokaler Hyperhidrosis.
Indikation Schwitzen ist für die Thermoregulation ein physiologischer und lebenswichtiger Mechanismus. Überproportional gesteigertes Schwitzen, die sog. Hyperhidrose, kann zu erheblichem Leidensdruck bei Patienten aller Altersklassen führen. Man unterscheidet hierbei eine generalisierte, meist durch eine Grunderkrankung bedingte Hyperhidrose von einer fokalen, meist idiopathischen Form, die überwiegend Hände, Achseln, Gesicht und Füße betrifft. Die häufigste Indikation weltweit für eine thorakale Sympathektomie sind die ansonsten therapierefraktäre, idiopathische palmare und axilläre Hyperhidrose, bei denen eine pathologische Sympathikusinnervation der lokalen ekkrinen Schweißdrüsen an Händen und in den Axillen besteht.
Methode Beschrieben wird die thorakoskopische Sympathektomie in Rückenlage mit Oberkörperhochlagerung bei einer adoleszenten Patientin. Unter Vollnarkose und Single-Lumen-Ventilation wird neben einem 3-mm-Kameratrokar in der Axillarfalte ein weiterer 5-mm-Trokar im lateralen 4. oder 5. Interkostalraum (ICR) platziert (im Verlauf der Brustfalte bei weiblichen Patienten). Der Grenzstrang mit den sympathischen Ganglien thorakal (Th) 2 – 4 wird sicher identifiziert, koaguliert und mittels Diathermie auf dem Caput costae jeweils durchtrennt. In der Regel wird die Operation in gleicher Sitzung beidseits thorakal durchgeführt, da das bilaterale, lokal gesteigerte Schwitzen zu den Diagnostikkriterien der Hyperhidrosis zählt.
Schlussfolgerung Die thorakoskopische Sympathektomie ist, insbesondere bei fokaler palmarer und axillärer Hyperhidrosis, aus Sicht der Autoren ein geeignetes Therapieverfahren, um die betreffenden Ganglien und den Grenzstrang selektiv zu durchtrennen. Mit der beschriebenen minimalinvasiven Operationstechnik ist eine anhaltend langfristige Symptomlinderung für die Patienten erreichbar.
Erweiterte Resektionsverfahren bei lokal fortgeschrittenen Tumoren des Thymus im Stadium III
Authors: Markowiak Till , Hofmann Hans-Stefan , Ried Michael 
Published: July 2020

ZusammenfassungDie Therapie lokal fortgeschrittener Tumoren des Thymus bedarf einer differenzierten Diagnostik und multimodalen Vorgehensweise, bestehend aus Operation, Radio- und/oder Chemotherapie. Im Hinblick auf das rezidivfreie Überleben und das Langzeitüberleben stellt auch in diesem Stadium die radikale und vollständige Resektion des Tumors den wichtigsten prognostischen Faktor dar. Das Masaoka-Koga-Stadium III beschreibt das lokal invasive Wachstum von malignen Thymustumoren in die mediastinalen Nachbarstrukturen. Abhängig vom Ausmaß der Tumorinfiltration kann die operative Resektion primär oder nach einer Induktionstherapie durchgeführt werden. In vielen Fällen müssen diese Tumoren jedoch auch als nicht resektabel eingestuft werden, sodass nur eine palliative Radio-/Chemotherapie als Therapieoption bleibt. Vor wenigen Jahren wurde erstmalig eine neue TNM-Klassifikation für maligne Thymustumoren eingeführt, die in vielen Teilen der klassischen Masaoka-Koga-Klassifikation zwar ähnelt, jedoch auch einige therapierelevante Änderungen beinhaltet. So wird hier zwischen den Stadien IIIA und IIIB unterschieden, mit dem Ziel, bei lokal fortgeschrittenen Thymustumoren die Resektabilität differenzierter einschätzen und folglich auch das gesamte Therapiekonzept entsprechend besser planen zu können. Neben Thymus, Thymom, perithymischem Fettgewebe, mediastinaler Pleura (Stadium I) oder Perikard (Stadium II) sollten bei Tumoren des Stadiums III alle infiltrierten Strukturen nach Möglichkeit „en bloc“ entfernt werden. Während bspw. die Lunge, brachiozephale Gefäße oder extraperikardiale Pulmonalgefäße noch reseziert und ggf. rekonstruiert werden können, limitiert die Infiltration der Aorta oder intraperikardialer Pulmonalgefäße häufig eine makroskopisch vollständige Resektion.
Synthesis of Polycyclic Natural Products through Skeletal Rearrangement
Authors: Yokoshima Satoshi 
Published: July 2020

Construction of rings through reliable reactions followed by changes in the ring size or the connectivity through skeletal rearrangement provides molecules with a wide range of skeletons. In this account, our syntheses of polycyclic natural products through skeletal rearrangement are discussed.1	Introduction2	Synthesis through Changes in the Ring Size3	Synthesis by Biomimetic Strategies4	Synthesis through Metathesis5	Synthesis through Temporary Formation of a Ring6	Conclusion