bluuebunny/crossref_metadata_2025_split huggingface dataset:
Comparative Analysis of Cerebral Magnetic Resonance Imaging Changes in Nontreated Infantile, Juvenile and Adult Patients with Niemann-Pick Disease Type C
Authors: Gburek-Augustat Janina , Groeschel Samuel , Kern Jan , Beck-Woedl Stefanie , Just Jennifer , Harzer Klaus , Stampfer Miriam , Kraegeloh-Mann Ingeborg 
Published: October 2019

Abstract
Aim The study aims to describe cerebral MRI in different onset forms of Niemann-Pick type C (NPC). Systematic MRI analyses in this rare lysosomal storage disease are lacking in the infantile and juvenile onset forms.
Methods Thirty-two cerebral MRI scans from 19 patients with NPC were assessed using a newly established and validated scoring system which addresses white matter changes and supratentorial versus infratentorial atrophy.
Results Seven scans were from six NPC patients with early infantile onset (<2 years of age), six scans were from three patients with late infantile onset (2–6 years), six scans from four with juvenile onset (6–15 years), and 13 from six with adult onset (>15 years). While supratentorial atrophy was the leading sign in the infantile groups, the juvenile and adult forms were characterized by both, infra- and supratentorial atrophy. White matter changes were found in nearly every patient; they increased with the disease duration in the earlier forms and were prominent in the later forms already early in the disease course.
Conclusion This is the first systematic and comparative MRI analysis in the different onset groups of NPC using a scoring system. Early during disease course, MRI showed different patterns in infantile compared with juvenile and adult onset NPC patients, for example, only supratentorial atrophy in juvenile versus global atrophy in adult onset patients. MRI changes provide an additional, early biomarker for NPC.
Identification of a Novel 19-bp Deletion Mutation in LTBP4 Using Exome Sequencing in Two Siblings with Autosomal Recessive Cutis Laxa Type 1C
Authors: Gupta Neerja , Langeh Nitika , Sridharan Aparajit , Kabra Madhulika 
Published: October 2019

AbstractAutosomal recessive type I cutis laxa is genetically heterogeneous. Biallelic mutations in latent transforming growth factor β-binding protein 4 (LTBP4; MIM*604710) lead to type 1C cutis laxa due to nonsense, frameshift, single base pair indels, or duplication mutations. In this report, we describe the first Indian family with cutis laxa as a result of a novel 19 base pair homozygous deletion leading to premature termination of short isoform LTBP-4S.
Retrocondylar Far-Lateral Approach for Resection of a Craniocervical Junction Hemangioblastoma
Authors: Tai Alexander X. , Knudson Kathleen , Jean Walter C. 
Published: October 2019

AbstractWe present a case in which a retrocondylar far-lateral approach was utilized to resect a hemangioblastoma at the craniocervical junction. The patient was a 33-year-old man presenting with 2 months of symptoms referable to compression at the craniocervical junction (i.e., dizziness and gait instability). Though neurologically intact on exam, his imaging demonstrated a highly vascular cystic lesion dorsolateral to the medulla on the left consistent with a hemangioblastoma. Virtual reality software was critical to visualize the patient's lesion in relationship to the vertebral artery and draining vein (Fig. 1). A far-lateral retrocondylar suboccipital craniectomy with a C1 hemilamiectomy permitted resection of this lesion. The operative strategy was to address the lesion similar to an arteriovenous malformation by detaching the lesion from its arterial feeders first, and then addressing the lesion's draining vein (Fig. 2). Postoperative imaging demonstrated a gross-total resection and the patient had an uncomplicated postoperative course. This case demonstrates not only the lateral reach of a retrocondylar far-lateral approach; but also, clearly demonstrates an effective dissection strategy when approaching a hemangioblastoma.The link to the video can be found at: https://youtu.be/M0szMOdhjfE.
Resection of von Hippel Lindau Related Brainstem Hemangioblastoma
Authors: Maggio Dominic , Rosenblum Jared S. , Chittiboina Prashant 
Published: October 2019

Patients with von Hippel Lindau (VHL) disease develop multiple central nervous system hemangioblastomas (HB). The surgical resection of VHL-HBs is the standard of clinical care when these HBs become symptomatic due to tumor growth, edema, or cyst formation. VHL-HBs frequently present at the obex of the brainstem, making this a challenging surgical problem. Here, we present a case of a large symptomatic brainstem VHL-HB that was resected using a dorsal midline approach and midline myelotomy. This 35-year-old man with VHL disease and multiple prior resections of cerebellar hemangioblastomas presented with progressive bilateral upper extremity weakness, ataxia, and dysphagia. The accompanying two-dimensional (2D) video demonstrates the key techniques for resection of this brainstem hemangioblastoma, including recognizing the pial presentation, sharp pial/subpial dissection, and en bloc removal. Subsequently, we discuss circumferential dissection, identification, and division of feeding vessels. We also demonstrate key maneuvers to recognize and divide the main arterial pedicle while preserving the anterior spinal artery. The patient tolerated the resection without complication and the patient was discharged home after 6 days at his baseline neurologic function. This work was supported by the Intramural Research Program of the National Institutes of Health.The link to the video can be found at: https://youtu.be/mb2VqcLpxDQ.
Modeling trade-offs across carbon sequestration, biodiversity conservation, and equity in the distribution of global REDD+ funds
Authors: Palomo Ignacio , Dujardin Yann , Midler Estelle , Robin Manon , Sanz María J. , Pascual Unai 
Published: October 2019

Significance
Deforestation is a key driver of climate change. The program on Reducing Emissions from Deforestation and Forest Degradation (REDD+) is one of the major attempts to tackle climate change mitigation in developing countries. The program intends to provide result-based incentives to countries that reduce deforestation. We model various future scenarios of the distribution of REDD+ funds and assess how each scenario would contribute to reducing carbon emissions and to conserving biodiversity under different distributional equity rules. Results help to understand how the inclusion of distributional equity affects biodiversity and climate objectives under REDD+, and they provide insights about potential synergies and trade-offs between environmental and equity targets in broader policy arenas such as those related to the Sustainable Development Goals.
Quantifying cellulose accessibility during enzyme-mediated deconstruction using 2 fluorescence-tagged carbohydrate-binding modules
Authors: Novy Vera , Aïssa Kevin , Nielsen Fredrik , Straus Suzana K. , Ciesielski Peter , Hunt Christopher G. , Saddler Jack 
Published: October 2019

SignificanceIt is recognized that an optimized mixture of endo- and exo-glucanases, beta-glucosidases, and accessory enzymes need to work cooperatively to result in effective cellulose hydrolysis. However, a key factor that impacts hydrolysis is the effectiveness of enzyme access to the cellulose. A quantitative method based on fluorescence-tagged CBMs and CLSM was developed to assess the cellulose structure, quantify its accessibility, and elucidate how this might influence the efficiency of cellulose hydrolysis. This work provides insights into the substrate–enzyme interactions that occur during enzyme-mediated hydrolysis of cellulose.
UV light suppression of EAE (a mouse model of multiple sclerosis) is independent of vitamin D and its receptor
Authors: Irving Amy A. , Marling Steven J. , Seeman Jeremy , Plum Lori A. , DeLuca Hector F. 
Published: October 2019

Significance
Sunlight exposure has long been associated with the suppression of MS with the reduction in risk credited to vitamin D production. Vitamin D and sunlight have each been reported to protect against EAE, the mouse model of MS. However, little work has focused on conclusively showing whether sunlight is acting via vitamin D. Here, we examine whether UV can suppress EAE either in animals lacking the ability to make vitamin D or in animals lacking the VDR. In each case, UV fully retained its ability to suppress disease, demonstrating that neither vitamin D nor its receptor is required. Future investigation can now focus on uncovering the mechanism whereby UV suppresses EAE and presumably MS.
PDZD8 mediates a Rab7-dependent interaction of the ER with late endosomes and lysosomes
Authors: Guillén-Samander Andrés , Bian Xin , De Camilli Pietro 
Published: October 2019

Significance
Membrane lipid homeostasis within cells requires a cooperation of vesicular transport and of lipid transfer proteins that mediate lipid exchange between membranes independent of bilayer fusion. Many such proteins also function as tethers connecting adjacent bilayers. For membranes that travel along the exo- and endocytic pathways, these tethers must be regulated to ensure their action selectively at specific stations of their journey. Here we identify a mechanism that recruits the endoplasmic reticulum (ER) to late endosomes/lysosomes and that may promote exchange of lipids between their membranes. These contacts rely on the binding of an ER-anchored lipid transfer protein to a key player in endosomal maturation, the small GTPase Rab7, thus explaining how their formation is regulated in time and space.
Subregion-specific rules govern the distribution of neuronal immediate-early gene induction
Authors: Gonzales Ben Jerry , Mukherjee Diptendu , Ashwal-Fluss Reut , Loewenstein Yonatan , Citri Ami 
Published: October 2019

Significance
We are the cumulative product of past experiences, which define our interaction with the world. Experiences leave their mark, at least in part, through the induction of immediate-early genes (IEGs) within neuronal assemblies. However, the rules governing the distribution of IEG expression within neuronal assemblies have not been comprehensively studied. To this end, we applied single-molecule fluorescence in situ hybridization (smFISH) on striatal tissue following cocaine experience and analyzed a published dataset of single-cell RNA sequencing from cortical tissue following light exposure. We report principles governing IEG induction and identify region-specific rules defining cell-specific recruitment. Our results suggest the existence of “superensembles” of neurons found in spatially defined clusters and characterized by the coherent and robust expression of multiple IEGs.
The exacerbation of Ebola outbreaks by conflict in the Democratic Republic of the Congo
Authors: Wells Chad R. , Pandey Abhishek , Ndeffo Mbah Martial L. , Gaüzère Bernard-A. , Malvy Denis , Singer Burton H. , Galvani Alison P. 
Published: October 2019

Significance
There is limited understanding of what ramifications conflict events have on disease transmission and control in regions plagued by civil unrest and violence. Furthermore, the multifaceted nature of the conflict events during an epidemic is yet to be characterized. Using conflict data, ethnographic appraisal, and a mathematical model, we provide a descriptive timeline of the events during the ongoing Ebola outbreak in the Democratic Republic of the Congo. We quantified the unrest preceding a conflict event and its subsequent impact on control activities to demonstrate how conflict events are contributing to the persistence of the epidemic. Our model framework can be extended to other infectious diseases in areas that have experienced chronic conflict and violence.
The senator’s discriminatory intent
Authors: Santa Ana Otto 
Published: October 2019

AbstractThis is a critical analysis of the discourse of an elected state official in the years leading up to the passage of arguably racist legislation. It was submitted to a U.S. court of law to support the plaintiffs’ claim that since the legislator publicly expressed racial bias against the groups of people affected by the law, then his legislation should be voided because the United States Constitution requires that laws treat citizens equally. The fact that critical discourse analytic findings have been entered into the U.S. courts leads to the question whether such analyses of public pronouncements May ever be permitted to serve as legally probative evidence.
Floquet engineering of optical lattices with spatial features and periodicity below the diffraction limit
Authors: Subhankar S , Bienias P , Titum P , Tsui T-C , Wang Y , Gorshkov A V , Rolston S L , Porto J V 
Published: October 2019

Abstract
Floquet engineering or coherent time-periodic driving of quantum systems has been successfully used to synthesize Hamiltonians with novel properties. In ultracold atomic systems, this has led to experimental realizations of artificial gauge fields, topological bandstructures, and observation of dynamical localization, to name a few. Here we present a Floquet-based framework to stroboscopically engineer Hamiltonians with spatial features and periodicity below the diffraction limit of light used to create them by time-averaging over various configurations of a 1D optical Kronig–Penney (KP) lattice. The KP potential is a lattice of narrow subwavelength barriers spaced by half the optical wavelength (λ/2) and arises from the nonlinear optical response of the atomic dark state. Stroboscopic control over the strength and position of this lattice requires time-dependent adiabatic manipulation of the dark-state spin composition. We investigate adiabaticity requirements and shape our time-dependent light fields to respect the requirements. We apply this framework to show that a λ/4-spaced lattice can be synthesized using realistic experimental parameters as an example, discuss mechanisms that limit lifetimes in these lattices, explore candidate systems and their limitations, and treat adiabatic loading into the ground band of these lattices.
Superconducting properties of (NH3)yLixFeSe0.5Te0.5 under pressure
Authors: Yang Xiaofan , He Tong , Taguchi Tomoya , Li Huan , Wang Yanan , Goto Hidenori , Eguchi Ritsuko , Miyazaki Takafumi , Yamaoka Hitoshi , Ishii Hirofumi , Liao Yen-Fa , Kubozono Yoshihiro 
Published: October 2019

Abstract
We prepared two superconducting phases of (NH3)
y
Li
x
FeSe0.5Te0.5, which show superconducting transition temperatures (T
c’s) as high as 20.2 and 29.5 K at ambient pressure, here called the ‘low-T
c phase’ and ‘high-T
c phase’. The temperature dependence of electrical resistance (R) was measured for the low-T
c phase of (NH3)
y
Li
x
FeSe0.5Te0.5 over a pressure (p) range of 0–14 GPa, and for the high-T
c phase of (NH3)
y
Li
x
FeSe0.5Te0.5 over 0–19 GPa, yielding double-dome superconducting T
c–p phase diagrams, i.e. two superconducting phases (SC-I and SC-II) were found for both the low-T
c and high-T
c phases under pressure. For the low-T
c phase, the maximum T
c was 20.2 K at 0 GPa for SC-I, and 19.9 K at 8.98 GPa for SC-II. For the high-T
c phase, the maximum T
c was 33.0 K at 1.00 GPa for SC-I, and 24.0 K at 11.5–13.2 GPa for SC-II. These results imply that the maximum T
c value of the high pressure phase (SC-II) does not exceed the maximum value of the SC-I, unlike what was shown in the T
c–p phase diagrams of (NH3)
y
Li
x
FeSe and (NH3)
y
Cs
x
FeSe investigated previously. Nevertheless, the double-dome T
c–p phase diagram was found in metal-doped FeSe0.5Te0.5, indicating that this feature is universal in metal-doped FeSe1−z
Te
z
. Moreover, no structural phase transitions were observed for either the low-T
c or high-T
c phases of (NH3)
y
Li
x
FeSe0.5Te0.5 over the wide pressure range of 0–15.3 GPa, and the T
c-lattice constant (c) plots for both phases were recorded to determine the critical point separating SC-I and SC-II.
The need for understanding the indoor environmental factors and its effects on occupants through an integrated analysis
Authors: Bluyssen Philomena M. 
Published: October 2019

Abstract
Research has shown that, even though the conditions seem to comply with current standards for indoor environmental quality (IEQ) based on single-dose response relationships, staying indoors is not good for our health. In the last three decades, many studies all over the world have been performed to identify and solve health and comfort problems of occupants. In our current standards, IEQ is still described with quantitative dose-related indicators, expressed in number and/or ranges of numbers for each of the factors (indoor air, lighting, acoustics and thermal aspects). Individual differences in needs and preferences of occupants (over time) are not accounted for. Other stressors and factors, whether of psychological, physiological, personal, social or environmental nature, are rarely considered. Interactions of stressors and effects at and between human and environment level are ignored. The focus is on preventing negative effects: positive effects are usually not considered. There is a need for an integrated analysis approach for assessing indoor environmental quality, which takes account of the combined effects of positive and negative stress factors in buildings on people (patterns), interactions, as well as the (dynamic) preferences and needs of occupants (profiles) and dynamics of the environment.
Research on the performance of sidewall perforated plate air supply system that suitable for prefabricated buildings
Authors: Dong Junwei , Li Hongqiang , Zhang Guoqiang 
Published: October 2019

Abstract
Taking the rural prefabricated residential building as research object, prefabricated sidewall partitioned perforated plate air supply model and traditional jet air supply model were established respectively. Then, CFD commercial software was used to simulate the temperature field, velocity field, formaldehyde concentration of indoor air-flow distribution of the two air supply model that mentioned above. Simulation results show that in the indoor breathing zone, the valuation index of prefabricated sidewall partitioned perforated plate air supply system, such as the velocity non-uniformity coefficient, air diffusion performance index, ventilation efficiency are entirely superior to the traditional jet air supply system. Moreover, the maximum vertical temperature gradient and maximum horizontal temperature gradient of the prefabricated sidewall partition perforated plate air supply system were also small which means the new air supply system could satisfy the indoor air quality and human thermal comfort requirements.
Thermal performance in single-zone occupied space ancient Myanmar multistage roof buildings
Authors: Zune May , Rodrigues Lucelia , Gillott Mark 
Published: October 2019

Abstract
Multistage roofs are dominant features in the ancient Myanmar buildings. They describe the cultural context, social status and are a response to the local climates. However, little is known about the thermal performance of multistage roof buildings. The authors believe that this is the first study to access the thermal performance of multistage roof buildings taking into account their typologies, ventilation modes and roof materials. The findings revealed that the three-stage roof buildings received a shorter duration of a year for thermal discomfort compared to the single gable roof buildings. However, there were insignificant improvements in annual mean air temperature by using three-stage roofs. On the other hand, the roof space of three-stage roof buildings received a very high indoor air temperature that caused abandon roof spaces apart from acting as a response to the local climate contexts. The study highlights that the beautiful use of Le-baw allows adding the gable vents easily for better ventilation performance. The results from this study substantiate the findings of another computational fluid dynamic simulation and support the conclusion with a discussion that the three-stage roof buildings have more potential to improve a better thermal performance if they have gable vents.
Natural ventilation with a supply air window and motorized skylight: a field study
Authors: Bastien Diane 
Published: October 2019

Abstract
Fenestration systems that allow air to circulate between window panes, also called ventilated or airflow windows, can be a simple and efficient way to provide or remove air in a building. This contribution presents modelled and experimental results from a field study where a triple-glazed supply air window is installed in the bedroom of a small, airtight house. A motorized skylight in the living room completes this natural ventilation system. Simulations of the ventilated cavity following ISO 15099 reveal an effective U-value 12-26% lower and a heat recovery efficiency of 58-38% when under a natural ventilation regime and a constant airflow of 14.4 m3/s. The temperature and CO2 levels in the bedroom and living room and window air outlet velocity were measured during 2 nights of single occupancy and 2 nights of double occupancy. Experimental data reveal a dynamic airflow through the ventilated window where local wind conditions have a large influence on the airflow. Effective average room ventilation flow rate between 27 and 42 m3/s were calculated with the transient mass method. This ventilation system is simple, silent and provided satisfactory indoor air quality in the building.
The Klein-Alfvén cosmology revisited
Authors: Hansson Johan 
Published: October 2019

Abstract
The Klein-Alfvén model is based on the pragmatic belief that also cosmology, just like all other fields of physics, should be based on physical laws independently tested in the laboratory. It actually has a number of attractive features, described in this article. As almost all matter in the known universe is in the plasma state, the model is by necessity based on both gravity and electromagnetism, and as most cosmic plasmas are inhomogeneous and magnetized, it is automatically inhomogeneous (as is the real universe). It is not perfect (no models are), but many of the outstanding unsolved ‘problems’ of the contemporary standard big bang-model of cosmology are either solved/sidestepped by, or non-existent in, the Klein-Alfvén model. One should remember that the standard model of cosmology also is just that—a model, and highly idealized at that, with many ad hoc ingredients and a large number of free parameters and hypothetical ingredients that are fixed only through comparison with cosmological data in a global best-fit fashion. It is not, and should never be considered to be, sacrosanct. If a comparable number of man-hours had been invested in the direction of the Klein-Alfvén model it is plausible that it would describe the real observed universe as good as, or even better than, the big bang-model—with much fewer speculative additions to known physics.
Light-sheet engineering using the Field Synthesis theorem
Authors: Chang Bo-Jui , Fiolka Reto 
Published: October 2019

Abstract
Recent advances in light-sheet microscopy have enabled sensitive imaging with high spatiotemporal resolution. However, the creation of thin light-sheets for high axial resolution is challenging, as the thickness of the sheet, field of view and confinement of the excitation need to be carefully balanced. Some of the thinnest light-sheets created so far have found little practical use as they excite too much out-of-focus fluorescence. In contrast, the most commonly used light-sheet for subcellular imaging, the square lattice, has excellent excitation confinement at the cost of lower axial resolving power. Here we leverage the recently discovered Field Synthesis theorem to create light-sheets where thickness and illumination confinement can be continuously tuned. Explicitly, we scan a line beam across a portion of an annulus mask on the back focal plane of the illumination objective, which we call C-light-sheets. We experimentally characterize these light-sheets and demonstrate their application on biological samples.