bluuebunny/crossref_metadata_2025_split huggingface dataset:
Long‐term follow‐up with filter paper samples in patients with propionic acidemia
Authors: Stanescu Sinziana , Belanger‐Quintana Amaya , Fernández‐Felix Borja Manuel , Pérez‐Cerdá Celia , Merinero Begoña , Ruiz‐Sala Pedro , Arrieta Francisco , Martínez‐Pardo Mercedes 
Published: September 2020

AbstractBackgroundPropionic acidemia (PA) is an inherited disorder caused by deficiency of propionyl CoA carboxylase. Most patients with this disorder are diagnosed during the neonatal period because of severe metabolic acidosis and hyperammonemia. Patients are required to undergo blood and urine analysis at least 3 to 4 times per year, depending on age and metabolic control.MethodsWe designed a prospective study in which we investigated the results from blood and urinary samples collected monthly in filter paper from 10 PA patients followed in a single metabolic reference center from January 2015 to September 2017. The aim of this study was to evaluate the usefulness of filter paper samples in the follow‐up of the PA patients.ResultsDuring the follow‐up period, 163 dried blood spot (DBS) and 119 urine dried spot samples were analyzed and compared with 160 plasma and 103 liquid urine specimens; 64 specimens of plasma were analyzed for odd‐numbered long‐chain fatty acids (OLCFAs). A total of 40 metabolic crises, 18 of them with hyperammonemia were documented. We observed a strong correlation between the filter paper and the urine/plasma samples for the main PA parameters both in stable metabolic conditions as well as in acute decompensations. Also, there was a strong correlation between OLCFAs measured in plasma and quantification of odd number acylcarnitines in DBS.ConclusionsWe conclude that filter paper blood and urinary samples can be used for the follow‐up of the patients with PA, correctly reflecting their metabolic situation.
A Holocene high‐resolution record of aquatic productivity, seasonal anoxia and meromixis from varved sediments of Lake Łazduny, North‐Eastern Poland: insight from a novel multi‐proxy approach
Authors: Sanchini Andrea , Szidat Sönke , Tylmann Wojciech , Vogel Hendrik , Wacnik Agnieszka , Grosjean Martin 
Published: September 2020

ABSTRACTAnthropogenic eutrophication and spreading anoxia in freshwater systems is a global concern. Little is known about anoxia in earlier historic times under weaker human impact, or under prehistoric natural conditions with different trophic, land cover and climatic regimes. We use a novel approach that combines high‐resolution hyperspectral imaging with µ‐XRF and HPLC‐pigment data, which allows us to assess chloropigments (productivity) and bacteriopigments (anoxia) at seasonal subvarve‐scale resolution. Our ~9700 cal a bp varved sediment record from NE Poland suggests that productivity increased stepwise from oligotrophic Early Holocene conditions (until ~9200 cal a bp) to mesotrophic conditions in the Mid‐ and Late Holocene. Natural eutrophication was mainly a function of progressing landscape evolution with intense weathering under dense forest and warm‐moist climatic conditions. Generally, anoxia increased with increasing productivity. Seasonal anoxia and some multi‐decadal periods of meromixis were the common mixing patterns throughout the Holocene except for a period of persisting meromixis between ~5200 and 2000 cal a bp. Anthropogenic deforestation around 400 cal a bp resulted in substantially better lake oxygenation despite high productivity. In this small lake, aquatic productivity and lakeshore forest cover (wind shield) were more important factors controlling oxic/anoxic conditions than Holocene temperature variability.
Non‐invasive sorptive extraction for the separation of human skin surface chemicals using comprehensive gas chromatography coupled to time‐of‐flight mass spectrometry: A mosquito‐host biting site investigation
Authors: Wooding Madelien , Rohwer Egmont R. , Naudé Yvette 
Published: September 2020

AbstractVariation in inter‐human attractiveness to mosquitoes, and the preference of mosquitoes to bite certain regions on the human host, are possible avenues for identifying lead compounds as potential mosquito attractants or repellents. We report a practical, non‐invasive method for the separation and detection of skin surface chemical compounds and comparison of skin chemical profiles between the ankle and wrist skin surface area sampled over a 5‐day period of a human volunteer using comprehensive gas chromatography coupled to time‐of‐flight mass spectrometry. An in‐house made polydimethylsiloxane passive mini‐sampler, worn as an anklet or a bracelet, was used to concentrate skin volatiles and semi‐volatiles prior to thermal desorption directly in the gas chromatography. A novel method for the addition of an internal standard to sorptive samplers was introduced through solvent modification. This approach enabled a more reliable comparison of human skin surface chemical profiles. Compounds that were closely associated with the wrist included 6‐methyl‐1‐heptanol, 3‐(4‐isopropylphenyl)‐2‐methylpropionaldehyde, 2‐phenoxyethyl isobutyrate, and 2,4,6‐trimethyl‐pyridine. Conversely, compounds only detected on the ankle region included 2‐butoxyethanol phosphate, 2‐heptanone, andp‐menthan‐8‐ol. In addition to known human skin compounds we report two compounds, carvone and (E)‐2‐decenal, not previously reported. Limits of detection ranged from 1 pg (carvone) to 362 pg (indole).
ADRM1 as a therapeutic target in hepatocellular carcinoma
Authors: Liang Yu‐Cen , Wang Ji‐Lin , Wang Hong‐Tao , Liu Hu , Zhang Hong‐Long , Liang Yu‐Xia 
Published: September 2020

AbstractHepatocellular carcinoma (HCC), a primary liver tumor, is the third leading cause of cancer‐related mortality worldwide. The proteasome system is overactivated in the majority of tumors, including HCC. However, targeting the proteasome system in HCC is not as effective as in other types of cancer. Therefore, a new target of HCC therapy needs to be identified, and the potential mechanism must be studied. Using the The Cancer Gene Genome Atlas and GEO datasets, the present investigation demonstrated for the first time that ADRM1 is overexpressed in HCC, and the high level of its expression predicts poor overall survival in HCC patients. The high expression of ADRM1 in HCC was verified using tumor tissue arrays. By comparing paired tumor and nontumor tissues, it was shown that the majority of HCC patients (76.25%) exhibited higher ADRM1 expression in the tumor than in normal tissues. in vitro experiments demonstrated that targeting ADRM1 with shRNAs significantly suppressed the proliferation of HCC cells. RA190, a specific inhibitor of ADRM1, suppressed cell proliferation and colony formation by HCC cells in a concentration‐dependent manner. The study of the mechanism of the effects of RA190 revealed that targeting ADRM1 blocked the G2/M transition in the cell cycle and induced apoptosis of HCC cells. Together, the obtained results indicate that ADRM1 is a promising target for HCC therapy and suggest that ADRM1 inhibitors, such as RA190, have the potential for clinical application in the treatment of HCC.
Mercury concentrations and associations with dissolved organic matter are modified by water residence time in eastern Canadian lakes along a 30° latitudinal gradient
Authors: Richardson Murray , Chételat John , MacMillan Gwyneth A. , Amyot Marc 
Published: September 2020

AbstractSurface water mercury (Hg) and dissolved organic carbon (DOC) concentrations and their ratios, which play a critical role in food chain bioaccumulation of Hg, were examined in lakes from southern boreal, sub‐Arctic taiga, Arctic tundra and polar desert landscapes of eastern and northern Canada. The study sites investigated span a 30° latitudinal gradient representing differences in climate, ecosystem productivity, and atmospheric mercury deposition. Lakes were selected to obtain a range of simple morphometrics such as area, depth, volume and catchment area, with corresponding differences in water residence times (WRT), ranging from 0.1 to 7.5 years. Total mercury (THg) and mono‐methylmercury (MMHg) concentrations correlated positively but weakly with DOC in lake surface waters along the climate gradient, consistent with lower ecosystem and organic matter productivity at higher latitudes. Specific UV absorbance, an indicator of terrestrial organic matter sources, was found to explain some residual variability in THg not explained by DOC. Concentrations of THg and MMHg and their ratios with DOC, particularly the MMHg : DOC ratio as well as %MMHg, were best explained by inverse associations with WRT. These relationships were apparent both within and between regions along the latitudinal gradient, suggesting a net‐negative effect of in‐lake processing on THg and MMHg concentrations associated with longer WRTs. Since the water MMHg : DOC ratio was previously shown to explain foodweb MMHg in the same study lakes, our results suggest that smaller lakes with shorter residence times are more susceptible to MMHg exposure even at low levels of inorganic Hg loading or MMHg production.
Coastal waters contamination by mining tailings: What triggers the stability of iron in the dissolved and soluble fractions?
Authors: Longhini Cybelle Menolli , Mahieu Léo , Sá Fabian , van den Berg Constant M. G. , Salaün Pascal , Neto Renato Rodrigues 
Published: September 2020

AbstractThe solubility of iron (Fe) in seawater is greatly enhanced by complexation with organic ligands, predominantly occurring as humic substances (HS) in coastal areas. Mining exploitation is believed to change the natural biogeochemical cycle of Fe in coastal waters, even though its impacts on the physical and chemical speciation of the Fe fractions are not known. Here we show that dissolved and soluble Fe concentrations in coastal waters affected by a mining catastrophe (Fundão dam, Southeast Brazil) remain very high, even almost 3 years later, with concentrations of dissolved Fe up to 2.8 μM (0.45 μm filtration) or 700 nM (0.22 μm filtration), and soluble Fe (0.02 μm) up to 40 nM. Levels of humic substances can only explain the binding of 2% and 10% (median values) of dissolved Fe (0.22 μm) and soluble Fe concentrations, respectively, which shows that processes other than complexation with humic substances are at play to maintain such high dissolved Fe concentrations. We hypothesize that the colloidal phase that dominates the dissolved Fe fraction occurs as Fe(III) oxyhydroxides while the soluble fraction is comprised of Fe(III) complexes with amine compounds (widely used in the ore extraction process). Mass balance of dissolved Fe in the water column suggests that sediment resuspension on the continental shelf is by far the dominant process delivering dissolved Fe to coastal and shelf waters. Estimates of dissolved Fe yearly fluxes highlight the sheer magnitude of this catastrophe that might provide a non‐negligible amount of dissolved Fe to the open ocean.
Hybrid Schemes for Excitation of Collective Resonances with Surface Plasmon Polaritons in Arrays of Quantum Dots in the Proximity of Graphene
Authors: Gubin Mikhail Yu. , Shesterikov Alexander V. , Prokhorov Alexei V. , Volkov Valentyn S. 
Published: September 2020

AbstractCollective near‐field effects in perspective 2D materials containing semiconductor quantum emitters can be used to design novel devices for light manipulation on the nanoscale. The present paper considers an energy conversion from the pump laser field to the surface plasmon polaritons (SPPs) on the base of the hybrid optoplasmonic multi‐level scheme of near‐resonant interaction with semiconductor quantum dots (QDs) placed in the proximity of a graphene surface. Using numerical simulations and semiclassical approach for the light–matter interaction, it is shown that maximum efficiency of SPP generation is achieved in strong coupling conditions for a stationary regime of SPP‐QD interaction. Besides, the conditions for observation of SPP collective resonances in an ordered array of optically excited QDs placed above graphene are determined. Finally, the use of the constructive SPP interference regime in a meta‐layer of QDs above graphene for efficient near‐field amplification and subwavelength light concentration is proposed and discussed.
Motor Cerebellar Connectivity and Future Development of Freezing of Gait in De Novo Parkinson's Disease
Authors: Jung Jin Ho , Kim Bo‐Hyun , Chung Seok Jong , Yoo Han Soo , Lee Yang Hyun , Baik Kyoungwon , Ye Byoung Seok , Sohn Young H. , Lee Jong‐Min , Lee Phil Hyu 
Published: September 2020

ABSTRACTObjectiveTo investigate the role of motor cerebellar connectivity in future development of freezing of gait, because it is a complex network disorder in Parkinson's disease (PD).MethodsWe recruited 26 de novo patients with PD who experienced freezing of gait within 5 years from magnetic resonance imaging acquisition (vulnerable PD group), 61 patients with PD who had not experienced freezing of gait within 5 years (resistant PD group), and 27 healthy control subjects. We compared the resting state functional connectivity between the motor cerebellum and the whole brain between the groups. In addition, we evaluated the relationship between motor cerebellar connectivity and freezing of gait latency.ResultsThe vulnerable PD group had increased functional connectivity between the motor cerebellum and parieto‐occipito‐temporal association cortices compared with the control group or the resistant PD group. Connectivity between lobule VI and the right superior parietal lobule, right fusiform gyrus, and left inferior temporal gyrus; between lobule VIIb and the right superior parietal lobule, right hippocampus, and right middle temporal gyrus; and between lobule VIIIb and the bilateral fusiform gyri, right middle occipital gyrus, and bilateral parietal lobes was inversely proportional to freezing of gait latency. The freezing of gait latency‐related cortical functional connectivity from the motor cerebellum was also significantly higher in the vulnerable PD group compared with the control group, as well as the resistant PD group.ConclusionsThe data suggest that the motor cerebellar functional connectivity with the posterior cortical areas play an important role in future development of freezing of gait in PD. © 2020 International Parkinson and Movement Disorder Society
Clinical Conditions “Suggestive of Progressive Supranuclear Palsy”—Diagnostic Performance
Authors: Grimm Max‐Joseph , Respondek Gesine , Stamelou Maria , Arzberger Thomas , Ferguson Leslie , Gelpi Ellen , Giese Armin , Grossman Murray , Irwin David J. , Pantelyat Alexander , Rajput Alex , Roeber Sigrun , van Swieten John C. , Troakes Claire , Meissner Wassilios G. , Nilsson Christer , Piot Ines , Compta Yaroslau , Rowe James B. , Höglinger Günter U. ,   for the Movement Disorder Society‐Endorsed PSP Study Group
Published: September 2020

ABSTRACTBackgroundThe Movement Disorder Society diagnostic criteria for progressive supranuclear palsy introduced the diagnostic certainty level “suggestive of progressive supranuclear palsy” for clinical conditions with subtle signs, suggestive of the disease. This category aims at the early identification of patients, in whom the diagnosis may be confirmed as the disease evolves.ObjectiveTo assess the diagnostic performance of the defined clinical conditions suggestive of progressive supranuclear palsy in an autopsy‐confirmed cohort.MethodsDiagnostic performance of the criteria was analyzed based on retrospective clinical data of 204 autopsy‐confirmed patients with progressive supranuclear palsy and 216 patients with other neurological diseases.ResultsThe conditions suggestive of progressive supranuclear palsy strongly increased the sensitivity compared to the National Institute of Neurological Disorders and Stroke and Society for Progressive Supranuclear Palsy criteria. Within the first year after symptom onset, 40% of patients with definite progressive supranuclear palsy fulfilled criteria for suggestive of progressive supranuclear palsy. Two‐thirds of patients suggestive of progressive supranuclear palsy evolved into probable progressive supranuclear palsy after an average of 3.6 years. Application of the criteria for suggestive of progressive supranuclear palsy reduced the average time to diagnosis from 3.8 to 2.2 years.ConclusionsClinical conditions suggestive of progressive supranuclear palsy allow earlier identification of patients likely to evolve into clinically possible or probable progressive supranuclear and to have underlying progressive supranuclear palsy pathology. Further work needs to establish the specificity and positive predictive value of this category in real‐life clinical settings, and to develop specific biomarkers that enhance their diagnostic accuracy in early disease stages. © 2020 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society
COVID‐19: Facemasks, healthcare policies and risk factors in the crucial initial months of a global pandemic
Authors: Ahmed Jubair , Harker Anthony , Edirisinghe Mohan 
Published: September 2020

AbstractPrevious pandemics have shown that facemask use becomes highly popular in public settings due to fear of the disease spreading. There is, however, a lack of strong scientific evidence that facemasks can significantly reduce the spread of respiratory diseases and as such, most governing policies do not mandate these coverings. There is a stark contrast between the policies and acceptance of facemasks across different geographies. In this work, several data sources have been thoroughly analysed to elucidate how viral diseases are transmitted and spread with particular emphasis on the novel SARS‐CoV‐2 virus which is causing an outbreak of COVID‐19. The different types of facemasks and respirators are also explained, the nature of their design and their efficacy is also examined. Several key factors which have been hypothesised to contribute to the spread of viral infections are elaborated in detail including the effect of temperature and humidity, public transportation systems, population density, socio‐economics and sociology. In this work, data are analysed to explain how the disease is spread, how facemasks function and the differences in the number of initial cases based on several contributing factors to the spread of disease. There are also some dangers in automatically recommending community facemask wearing, such as a reduction in the immune system functionality from the reduced exposure to microbes and the disposal issues which result from the large‐scale use of such materials. The questions of whether facemasks are useful in a community setting or if they divert valuable material away from critical healthcare providers are discussed.
A novel missense heterozygous mutation in MAP3K1 gene causes 46, XY disorder of sex development: case report and literature review
Authors: Al Shamsi Aisha , Al Hassani Noura , Hamchou Moustafa , Almazrouei Raya , Mhanni Aziz 
Published: September 2020

AbstractBackgroundDisorders of sex development (DSD) can result from congenital defect in sex determining pathway. Mitogen‐activated protein kinase kinase kinase 1 (MAP3K1) is one of the commonest genes that has been identified to cause 46, XY DSD. It can present as complete or partial gonadal dysgenesis even within the same kindred. Few mutations in this gene have previously been identified in a high proportion of individuals with 46, XY gonadal dysgenesis.Methods and ResultsWe report three siblings with same novel variant in MAP3K1 gene presenting with variable degrees of partial gonadal dysgenesis. Clinical and genetic assessments were performed for the three siblings, while endocrine evaluation was done for two of them. The identified mutation (p.Thr657Arg) was previously classified as a pathogenic variant, although apparently there are no reported humans with this mutation.ConclusionThis report adds to the genotype‐phenotype correlation, highlighting the clinical importance of considering MAP3K1 gene defects as part of the differential diagnosis for complete or partial gonadal dysgenesis especially with multiple affected family members.
Phase shift switching of a miniaturized ultra‐wideband hybrid coupler for 5G technology
Authors: Slimani Abdellatif , Das Sudipta , El Alami Ali , Madhav Boddapati T. P. , D. Bennani Saad , Jorio Mohammed 
Published: September 2020

AbstractThe main purpose of this letter is to develop a miniaturized ultra‐wideband hybrid coupler with an adjustable phase shift (90°‐180° and vice versa) that operates around the resonant frequency of 3.8 GHz with a fractional bandwidth of 26% required for 5G applications. The design approach is based on a microstrip waveguide technique with localized lumped elements to control the phase shift between the input and output ports. The performance of the coupler can be seen from its important characteristics: adaptation, coupling, isolation, and phase shift. All these mentioned parameters are approved by simulation and validated by measurement. The measurement results show good agreement with the simulation, which confirms the success of the theoretical part and the importance of our proposed structure.
A linearization method with optimizing impedance of envelope signal to suppress IMD3 of RF CMOS power amplifier
Authors: Lee Changhyun , Yoo Jinho , Park Changkun 
Published: September 2020

AbstractIn this paper, the linearization method with optimization of the impedance of the envelope signal of a RF CMOS power amplifier is proposed. By analyzing the extended Taylor series, it was determined that the IMD3, gain, and output power of the CMOS power amplifier could be regulated using the impedance of the envelope signal. To evaluate the feasibility of the proposed method, we designed a 1.9‐GHz CMOS power amplifier using a 110‐nm RFCMOS process. Using the proposed method, the measured IMD3 is suppressed and consequently, the measured linear output power is also improved by 3.7 dB. The measured results confirm the feasibility of the presented approach.
Overactive bladder medication: Persistence, drug switching, and reinitiation
Authors: Soda Takeshi , Tashiro Yu , Koike Shuhei , Ikeuchi Ryosuke , Okada Takuya 
Published: September 2020

AbstractAimTo assess real‐world treatment profiles, including the time to and reasons for discontinuation or drug switching, treatment reinitiation, and postdiscontinuation follow‐up in patients receiving antimuscarinics or ß3‐agonists for overactive bladder (OAB) through a retrospective chart review.MethodsWe retrospectively reviewed medical charts of 777 patients, aged ≥18 years, who underwent antimuscarinic or ß3‐agonist therapy at our hospital. Data on patient's age, sex, chief complaint, and OAB symptom score at therapy initiation were collected. Treatment persistence was assessed with respect to the median time to discontinuation and the persistence rate at 12 months.ResultsOlder patients, male patients, and those with more severe urgency symptoms were more likely to show treatment persistence with OAB medications. Treatment persistence with mirabegron was significantly longer than that with antimuscarinics when administered as either the first‐ or second‐line medication. Multivariate analyses showed that urgency severity and use of mirabegron were independently associated with better persistence (p = .026 and p = .018, respectively). Out of 583 patients who discontinued medication, 344 continued with the visit schedule, and the reinitiation rate of the OAB medication was 19% at a median follow‐up of 24 months.ConclusionAlthough the persistence rates for OAB medications improved with the introduction of mirabegron, most patients still discontinued the medication therapy within 1 year. The treatment strategies for patients with mild symptoms and those who are resistant to medication can still be improved. Tailored individualized treatments that avoid excessive reliance on pharmacotherapy would be key to further improve treatment outcomes in OAB patients.