bluuebunny/crossref_metadata_2025 huggingface dataset:
Prediction of biochemical recurrence in prostate cancer patients who underwent prostatectomy using routine clinical prostate multiparametric MRI and decipher genomic score
Authors: Jambor Ivan , Falagario Ugo , Ratnani Parita , Perez Ileana Montoya , Demir Kadir , Merisaari Harri , Sobotka Stanislaw , Haines George K. , Martini Alberto , Beksac Alp Tuna , Lewis Sara , Pahikkala Tapio , Wiklund Peter , Nair Sujit , Tewari Ash
Published: October 2019

Background

Biochemical recurrence (BCR) affects a significant proportion of patients who undergo robotic‐assisted laparoscopic prostatectomy (RALP).

Purpose

To evaluate the performance of a routine clinical prostate multiparametric magnetic resonance imaging (mpMRI) and Decipher genomic classifier score for prediction of biochemical recurrence in patients who underwent RALP.

Study Type

Retrospective cohort study.

Subjects

Ninety‐one patients who underwent RALP performed by a single surgeon, had mpMRI before RALP, Decipher taken from RALP samples, and prostate specific antigen (PSA) follow‐up for >3 years or BCR within 3 years, defined as PSA >0.2 mg/ml.

Field Strength/Sequence

mpMRI was performed at 27 different institutions using 1.5T (n = 10) or 3T scanners and included T2w, diffusion‐weighted imaging (DWI), or dynamic contrast‐enhanced (DCE) MRI.

Assessment

All mpMRI studies were reported by one reader using Prostate Imaging Reporting and Data System v. 2.1 (PI‐RADsv2.1) without knowledge of other findings. Eighteen (20%) randomly selected cases were re‐reported by reader B to evaluate interreader variability.

Statistical Tests

Univariate and multivariate analysis using greedy feature selection and tournament leave‐pair‐out cross‐validation (TLPOCV) were used to evaluate the performance of various variables for prediction of BCR, which included clinical (three), systematic biopsy (three), surgical (six: RALP Gleason Grade Group [GGG], extracapsular extension, seminal vesicle invasion, intraoperative surgical margins [PSM], final PSM, pTNM), Decipher (two: Decipher score, Decipher risk category), and mpMRI (eight: prostate volume, PSA density, PI‐RADv2.1 score, MRI largest lesion size, summed MRI lesions' volume and relative volume [MRI‐lesion‐percentage], mpMRI ECE, mpMRI seminal vesicle invasion [SVI]) variables. The evaluation metric was the area under the curve (AUC).

Results

Forty‐eight (53%) patients developed BCR. The best‐performing individual features with TLPOCV AUC of 0.73 (95% confidence interval [CI] 0.64–0.82) were RALP GGG, MRI‐lesion‐percentage followed by biopsy GGG (0.72, 0.62–0.82), and Decipher score (0.71, 0.60–0.82). The best performance was achieved by feature selection of Decipher+Surgery and MRI + Surgery variables with TLPOCV AUC of 0.82 and 0.81, respectively

Data Conclusion

Relative lesion volume measured on a routine clinical mpMRI failed to outperform Decipher score in BCR prediction.

Level of Evidence: 3

Technical Efficacy: Stage 2

J. Magn. Reson. Imaging 2020;51:1075–1085.
Characterizing rainfall in the south‐western Cape, South Africa: 1841–2016
Authors: Ndebele Nothabo E. , Grab Stefan , Turasie Alemtsehai
Published: October 2019

The rainfall series from the South African Astronomical Observatory in Cape Town, South Africa, is one of the longest known single site instrumental records in the southern hemisphere, spanning over 176 years. Rainfall data are analysed to determine trends and periodicity in the series for annual, seasonal and monthly time scales. Using the Mann Kendall test and Sen's slope, significant negative rainfall trends are recorded for the months of March and October, and for the spring season (from September to November). Using the Mann Kendall and its modified versions to account for serial correlation, as well as a multi‐temporal trend analysis, we demonstrate a positive rainfall trend during the first 60 years (i.e., 1841–1900), which thereafter changes to a long‐term (1900–2016) negative trend, but incorporating a shorter 40 years significant positive trend between 1930 and 1970. We identify cyclic patterns with recorded periods of 9–12 years, 16–30 years and 30–42 years for rainfall, the Southern annular mode (SAM) and Southern oscillation index (SOI). In addition to the notable 9–12 years rainfall cycle that is evidently associated with sunspot cycles, 20–30 years and longer 32–40 years rainfall, solar, SAM and SOI cycles are also identified.
Impact of amplified evaporation due to lake expansion on the water budget across the inner Tibetan Plateau
Authors: Song Chunqiao , Sheng Yongwei , Zhan Shengan , Wang Jida , Ke Linghong , Liu Kai
Published: October 2019

Over the past decades, changing climate has exerted pronounced influences on the cryo‐hydrological environment on the Tibetan Plateau. One major manifestation is the widespread lake expansions over Tibetan endorheic basins. The enlarged lake water surface areas are expected to significantly alter land‐atmosphere water fluxes, which in return may pose feedbacks to the climate system and hydrological processes. The goal of this study is to investigate the potential influences of the recent lake expansions on amplifying the evaporation flux over the basins of inner Tibetan Plateau (ITP). We detected that the ITP lakes have experienced a net inundation increase of 4,542.3 km2 during 2000–2015, about 95.6% of which was contributed by lakes larger than 1 km2. We further estimated the land and water evaporations based on multi‐source, available actual evapotranspiration (ETa) and potential evapotranspiration data sets, and in situ evaporation records. The differences between land ETa and lake water evaporation were employed to represent the evaporation alternation over newly inundated basin (named “land‐to‐lake” hereafter) areas. The land ETa was estimated based on the average of three commonly used gridded data sets while the over‐lake evaporation was calculated by the empirical correction of potential evaporation estimates by spatial interpolation of pan evaporation. A conservative estimate using the pan coefficient of 0.6 indicates that the newly inundated lake area may have led to a potential evaporation increase of 3.08 ± 1.08 Gt/year on the ITP. The increased evaporation flux is close to half of the recent annual growth rate of lake water storage in the ITP. Despite unneglectable uncertainties, our estimates initiate an important assessment of how the recent lake expansion across the ITP has influenced the local land‐atmosphere interactions and the water cycle. Accounting this evaporation amplification is crucial to reduce the uncertainty in estimating basin‐scale water budgets and projecting the regional water balance.
Integrated large‐scale circulation impact on rainy season precipitation in the source region of the Yangtze River
Authors: Du Yiheng , Berndtsson Ronny , An Dong , Zhang Linus , Yuan Feifei , Hao Zhenchun
Published: October 2019

Monthly precipitation data at regular grids of 0.5° × 0.5° derived from observations during June–August 1961–2016 were used to reveal characteristics of large‐scale circulations associated with rainy season precipitation over the source region of the Yangtze River (SRYR). The integrated impact of major influencing circulation patterns was examined by principal component analysis and composites. Results showed that the first rainy season precipitation mode associates with the Southern Oscillation Index (SOI) and the Pacific Decadal Oscillation (PDO), explaining 64% of spatial and temporal rainy season precipitation variance in the region. Composites of precipitation pattern under different phases of SOI and PDO revealed that the effect of PDO on precipitation varies with the SOI phase. When in phase with the SOI, PDO‐induced precipitation anomalies are magnified. When out‐of‐phase, anomalies weaken or even disappear. Composites of moisture flux patterns show that large‐scale atmospheric circulation affects the strength of westerlies that transport moisture to the study area and formation of convergence. In coming decades, the PDO is likely to continue in a negative phase with La Niña (positive SOI) events, implying more precipitation during the rainy season. Consequently, this knowledge can be used to improve decision making regarding water supply and flood risk management in the SRYR.
Observed and projected intra‐seasonal variability of Australian monsoon rainfall
Authors: Moise Aurel , Smith Ian , Brown Josephine R. , Colman Robert , Narsey Sugata
Published: October 2019

Indices derived from daily rainfall time series are used to measure “burst” features of the northern Australia monsoon, corresponding to one or more days of heavy rainfall. These indices include number of burst days, numbers and durations of burst events, and average intensity. The results using observational data show how these features can vary from one year to the next, and how they can vary from the station scale (Darwin) to the regional scale (northern Australia). The results from Coupled Model Intercomparison Project Phase 5 (CMIP5) climate model simulations under both historical and future greenhouse gas conditions have also been analysed and indicate how well models can capture these features and how they might change by the end of the 21st century under a high emissions scenario. While most models provide a reasonable simulation of present‐day burst features, there is little consensus for a significant change to seasonal rainfall totals when looking at the full CMIP5 ensemble. A subset of models with detectable skills with respect to the Madden‐Julian Oscillation shows evidence for an increase in the seasonal total rainfall amount and most other monsoon metrics, except a slight decrease in the number of burst events. This is consistent with a basic thermodynamic response to warming and consistent with findings elsewhere. However, the Australian monsoon is strongly influenced by the large‐scale circulation and there remains some doubt about whether we can confidently diagnose all the changes to monsoon bursts that could occur given the limited ability of many of the current generation of models to simulate tropical cyclones, the Madden‐Julian Oscillation and other relevant features.
Mild Affective Shifts and Creativity: Effects on Idea Generation, Evaluation, and Implementation Planning
Authors: Watts Logan L. , McIntosh Tristan J. , Gibson Carter , Mulhearn Tyler J. , Medeiros Kelsey E. , Mecca Jensen T. , Cohen‐Charash Yochi
Published: October 2019

This study investigated the impact of mild shifts in affective tone (i.e., pleasant vs. unpleasant) and arousal (i.e., high vs. low) on three creative processes. Undergraduates read short stories designed to induce affective shifts and then were asked to generate solutions to a complex business problem. Shifts in affective tone and arousal interacted to influence idea generation and implementation planning, but not idea evaluation. The strongest creative performance was exhibited by participants who experienced a stable and pleasantly toned, low‐arousal (i.e., relaxed) state and by those who shifted to an unpleasantly toned, high‐arousal (i.e., angry) state. In contrast, those who shifted to an unpleasantly toned, low‐arousal (i.e., sad) state or a pleasantly toned, high‐arousal (i.e., happy) state tended to exhibit poorer creative performance. These results demonstrate the need to revisit the popular conception that organizations should promote intense levels of pleasant affect to enhance employee creativity.
Weight gain velocity as a predictor of severe obstructive sleep apnea among obese adolescents
Authors: Johnson Romaine F. , Hansen Alexander , Narayanan Ajay , Yogesh Ahana , Shah Gopi B. , Mitchell Ron B.
Published: October 2019

Objectives/Hypothesis

To evaluate a cohort of obese adolescents with obstructive sleep apnea (OSA) to determine if increased yearly weight gain was a predictor of severe OSA.

Study Design

Retrospective cohort study.

Methods

Obese adolescents (body mass index percentile >95% for that age and sex based upon the Centers for Disease Control and Prevention weight classifications), ages 12 to 17 years, referred for full night polysomnography (PSG) were analyzed. We examined demographics, weight classifications, yearly weight gain from age 9 years onward, PSG data (apnea‐hypopnea index), and tonsil size. We performed a mixed‐effect linear regression model to test whether the velocity of weight gain was increased in obese patients with severe OSA when compared to those without severe OSA.

Results

This study included 166 obese adolescents, 105 with and 61 without severe OSA. The average age was 14 years and was predominately male (57%) and Hispanic (44%). The regression analysis found that the yearly change in weight among obese adolescents with severe OSA was significantly higher than those without (B = 1.4, standard error = 0.50, P = .005, 95% confidence interval: 0.42–2.4). For the group with severe OSA, weight increased 6.5 kg every year before their PSG, whereas for those without, weight increased 5.1 kg per year.

Conclusions

The rate of weight gain over time is an important predictor of severe OSA in obese adolescents.

Level of Evidence

3b

Laryngoscope, 130:1339–1342, 2020
High stream intermittency in an alpine fluvial network: Val Roseg, Switzerland
Authors: Paillex Amael , Siebers Andre R. , Ebi Christian , Mesman Jorrit , Robinson Christopher T.
Published: October 2019

More than one‐third of the world's rivers cease to flow and go dry on a periodic basis—so‐called intermittent rivers. The frequency and duration of flow intermittency in running waters are increasing due to climate change and water demands for human use. Intermittency effects on stream biodiversity and ecosystem functioning are dramatic and are expected to become increasingly prevalent in alpine landscapes in the near future. This project used modified field sensors to measure flow intermittency, temperature, and water origin (groundwater, precipitation, glacier) at high spatio‐temporal resolution throughout an alpine fluvial network (Val Roseg, Switzerland). We continuously recorded water presence in 30 tributary streams and validated sensor performance with field‐collected measures. Three different flow regimes were observed in the network, including periodically intermittent, seasonally intermittent, and permanently flowing streams. Twenty‐four streams (80% of recorded streams) dried at least once during the sampling period. Principal components analysis along with generalized additive models showed alpine streams with low average temperature and high conductivity (groundwater‐fed) were prone to permanent flow, whereas streams with higher average temperature and low conductivity (glacier‐fed) typically had intermittent flow. The field sensors proved precise for simultaneously measuring flow intermittency, temperature, and water origin at high resolution throughout the river network. Overall, this approach provides an effective way to develop eco‐hydrological models that examine the effects of flow intermittency on biodiversity and ecosystem functioning in riverine networks.
The role of large macrofauna in mediating sediment erodibility across sedimentary habitats
Authors: Hillman Jenny R. , Lundquist Carolyn J. , Pilditch Conrad A. , Thrush Simon F.
Published: October 2019

Large macrofauna influence sediment erodibility via their activity and presence in the sediment. This article explores how the depletion of large animals from macrobenthic communities influences sediment erodibility across a natural grain size gradient of poorly sorted habitats within an estuary. We sampled seven sites in Mahurangi Harbour, New Zealand, to investigate how heterogeneity within and among these habitats influences sediment stability. We depleted the large macrofauna in the sediment to determine how changes in community structure will affect ecosystem functioning in the context of sediment stability. A core‐based erosion device (EROMES) was used to measure three different parameters associated with sediment resuspension potential: surface erosion threshold (τ
c; N m−2); erosion rate (ER; g m−2 s−1); and the subsurface erosion constant (m
e; g N−1 s−1). Multiple regression models were developed for each parameter to identify important drivers of change. Sediment grain size, as a proxy for habitat type, explained 53% of the total variation in both the early surface erosion measures, τ
c and ER. Once the surface layers had been eroded, m
e was best defined by a site‐specific combination of biological, chemical, and physical variables that explained 40% of the subsurface erosion. Our results demonstrate that at all sites reducing the abundance of large animals within the macrofaunal community contributed to substantial impacts on erosion and thus ecosystem functioning associated with sediment composition and water clarity.
Calcium carbonate production by fish in temperate marine environments
Authors: Salter Michael A. , Perry Chris T. , Smith Abigail M.
Published: October 2019

Marine bony fishes are an important source of calcium carbonate with relevance to sediment production and inorganic carbon cycling. However, knowledge of the production and fate of these carbonates is based primarily on data from warm‐water reef fishes, with efforts to assess global‐scale implications constrained by assumptions that this small cross section of the global fish community is widely representative. Here we test the extent to which temperature influences fish carbonate mineralogy and morphology by comparing products from temperate settings (20 species at temperatures spanning 10–18°C) against existing data (23–27°C). Overall, carbonate products were mineralogically, compositionally, and morphologically similar throughout the thermal range, and in most cases, we observed no differences within species (18 vs. 24°C) or families (10 vs. 25°C). Confirmation of within‐family consistency over large thermal gradients is significant because: (1) it facilitates a substantial range expansion over which fish carbonate production models can be constructed, even where family‐level product data are geographically limited; and (2) it implies that the solubility of products from any given fish family varies only due to local carbonate saturation states at excretion (and not crystallographic differences). The only exception was in two members of the Labridae (wrasses), which produced low‐Mg calcite (LMC) and minor amorphous calcium–magnesium carbonate (ACMC) at 10°C; the inverse of products from confamilials at 25°C. This finding could have significant implications for understanding the role of fish carbonates globally because ACMC is a highly unstable carbonate polymorph, whereas LMC is very stable.
Impacts of microplastic vs. natural abiotic particles on the clearance rate of a marine mussel
Authors: Harris Lyda S. T. , Carrington Emily
Published: October 2019

In coastal habitats, mussels are exposed to microplastics (MP; plastic 0.1 μm–5 mm) and silt, two abiotic particles that are similarly sized and lack nutrition. The addition of MP or silt may change the functional response of mussels. We measured clearance rate (CR) of Mytilus trossulus in three particle treatments (algae, MP + algae, and silt + algae) across four concentrations to (1) determine if the effects of MP and silt are similar and (2) disentangle the effects of particle type, particle concentration, and proportion of abiotic particles. CR decreased by 62% at high MP concentrations (> 1250 particles mL−1) but was not affected at equivalent silt concentrations. These findings suggest high MP concentrations inhibit mussel CR, more than expected by changes in particle concentration or the proportion of abiotic particles. As plastic production increases, mussel exposure to MP will increase, potentially reducing energy transfer, benthic‐pelagic coupling, and water clarity.
Radically Accessing D–A Type Ambipolar Copolymeric Materials with Intrinsic Electrical Conductivity and Visible–Near Infrared Absorption Via Electro‐Copolymerization
Authors: Ranathunge Tharindu A. , Karunathilaka Dilan , Ngo Duong T. , Attanayake Nuwan H. , Brodgon Phillip , Delcamp Jared H. , Rajapakse R. M. Gamini , Watkins Davita L.
Published: October 2019

Thienothiadiazole‐bisthiophene (TTDT2) and diketopyrrolo–pyrrole–bisthiophene (DPPT2) are successfully electro‐copolymerized with terthiophene (T3) as an initiator and linker at low oxidative potentials. AC impedance analysis, absorption spectroscopy, and elemental composition via SEM‐EDX support the formation of donor–acceptor (D–A) type alternating block copolymers, poly(T3‐TTDT2), and poly(T3‐DPPT2). Unique optical properties that span into the near infrared‐II(>1000 nm) region and inherent electrical conductivity at the p‐type regime, n‐type regime, and in between the two regimes (i.e., typical insulator region) are observed. This study showcases the advantages of electro‐polymerization toward tailoring of next generation opto‐electronic materials.
Evaluation of the occurrence of sporulating and nonsporulating pathogenic bacteria in manure and in digestate of five agricultural biogas plants
Authors: Le Maréchal Caroline , Druilhe Céline , Repérant Elisabeth , Boscher Evelyne , Rouxel Sandra , Le Roux Sophie , Poëzévara Typhaine , Ziebal Christine , Houdayer Catherine , Nagard Bérengère , Barbut Frédéric , Pourcher Anne‐Marie , Denis Martine
Published: October 2019

The number of agricultural biogas plants has been increasing in the past decades in some European countries. Digestates obtained after anaerobic digestion (AD) of manure are usually spread on agricultural land; however, their hygiene status regarding pathogens posing public health and/or animal health challenges has been poorly characterized up to now in France. In this study, three replicates of manure and digestate were collected from five farm biogas plants receiving animal manure in order to assess the occurrence and concentrations of sporulating (Clostridium botulinum, Clostridioides difficile, Clostridium perfringens) and nonsporulating (Listeria monocytogenes, thermotolerant Campylobacter spp., Salmonella, Escherichia coli, enterococci) bacteria. Concentrations of E. coli, enterococci, and C. perfringens in digestates ranged from 102 to 104, 104 to 105, and <103 to 7 × 105 CFU/g, respectively. Salmonella and C. difficile were detected in manure and digestate from the five biogas plants at concentrations ranging from <1.3 to >7 × 102 MPN/g and from 1.3 to 3 × 102 MPN/g, respectively. Thermotolerant Campylobacter, detected in all the manures, was only found in two digestates at a concentration of cells ranging from <10 to 2.6 × 102 CFU/g. Listeria monocytogenes and C. botulinum were detected in three manures and four digestates. The bacterial counts of L. monocytogenes and C. botulinum did not exceed 3 × 102 and 14 MPN/g, respectively. C. botulinum type B was detected at very low level in both the manure and digestate of farm biogas plants with no botulism history. The levels of pathogenic bacteria in both manure and digestate suggested that some bacteria can persist throughout AD.
Coordinated transient interaction of ZO‐1 and afadin is required for pedestal maturation induced by EspF from enteropathogenic Escherichia coli
Authors: Ugalde‐Silva Paul , Navarro‐Garcia Fernando
Published: October 2019

Enteropathogenic Escherichia coli (EPEC) infection causes a histopathological lesion including recruitment of F‐actin beneath the attached bacteria and formation of actin‐rich pedestal‐like structures. Another important target of EPEC is the tight junction (TJ), and EspF induces displacement of TJ proteins and increased intestinal permeability. Previously, we determined that an EPEC strain lacking EspF did not cause TJ disruption; meanwhile, pedestals were located on the TJ and smaller than those induced by the wild‐type strain. Therefore, EspF could be playing an important role in both phenotypes. Here, using different cell models, we found that EspF was essential for pedestal maturation through ZO‐1 disassembly from TJ, leading to (a) ZO‐1 recruitment to the pedestal structure; no other main TJ proteins were required. Recruited ZO‐1 allowed the afadin recruitment. (b) Afadin recruitment caused an afadin–ZO‐1 transient interaction, like during TJ formation. (c) Afadin and ZO‐1 were segregated to the tip and the stem of pedestal, respectively, causing pedestal maturation. Initiation of these three discrete phases for pedestal maturation functionally and physically required EspF expression. Pedestal maturation process could help coordinate the epithelial actomyosin function by maintaining the actin‐rich column composing the pedestal structure and could be important in the dynamics of the pedestal movement on epithelial cells.
Mutational change of CTX‐M‐15 to CTX‐M‐127 resulting in mecillinam resistant Escherichia coli during pivmecillinam treatment of a patient
Authors: Nielsen Karen Leth , Hansen Katrine Hartung , Nielsen Jesper Boye , Knudsen Jenny Dahl , Schønning Kristian , Frimodt‐Møller Niels , Hertz Frederik Boëtius , Jansåker Filip
Published: October 2019

Pivmecillinam (amdinocillin pivoxil) is the recommended first‐choice antibiotic used to treat urinary tract infections (UTIs) in Denmark. The frequency of mutation to mecillinam (MEC) resistance is described as high in vitro; however, treatment of UTI has a good clinical response and prevalence of mecillinam resistance in Escherichia coli remains low despite many years of use. We describe occurrence of in vivo mecillinam resistance in a clinical isolate of ESBL‐producing E. coli following pivmecillinam treatment. The identified phenotypic differences in the mecillinam resistant isolate compared with the original mecillinam susceptible isolate were a full‐length LPS with O‐antigen (O25), mecillinam resistance and a lower MIC for ceftazidime. Regarding genotype, the resistant isolate differed with a mutation in blaCTX‐M‐15 to blaCTX‐M‐127, loss of a part of a plasmid and a genomic island, respectively, and insertion of a transposase in wbbL, causing the rough phenotype. The observed mecillinam resistance is expected to be caused by the mutation in blaCTX‐M‐15 with additional contribute from the serotype shift. We continue to recommend the use of pivmecillinam as first‐line treatment for UTI.
Prodromal Marker Progression in Idiopathic Rapid Eye Movement Sleep Behavior Disorder: Sample Size for Clinical Trials
Authors: Alotaibi Fatimah , Pelletier Amélie , Gagnon Jean‐François , Montplaisir Jacques Y. , Postuma Ronald B.
Published: October 2019

Objective

To estimate prodromal marker progression in idiopathic rapid eye movement sleep behavior disorder patients with prodromal Parkinson's disease (PD) to calculate sample size for neuroprotective trials.

Methods

Patients with polysomnogram‐proven idiopathic rapid eye movement sleep behavior disorder were assessed for prodromal PD using Movement Disorder Society criteria. We prospectively measured progression rates of numerous clinical variables, including motor, cognitive, special sensory, and autonomic variables and calculated the sample size required to demonstrate slowing of progression under 3 effectiveness assumptions (30%, 50%, and 70% slowing).

Results

Overall, the variables that progressed with lowest sample size requirements were motor variables (234 participants required per group for 50% efficacy over 2 years). By contrast, cognitive, special sensory, and autonomic variables showed modest progression with high variability, resulting in high sample sizes. The most efficient design was a time‐to‐event analysis using milestones of motor and cognitive decline (126 per group).

Conclusion

In idiopathic rapid eye movement sleep behavior disorder, time‐to‐event analysis assessing milestones of decline is the most efficient trial design for neuroprotective therapy. © 2019 International Parkinson and Movement Disorder Society
Mutational spectrum of Mexican patients with tyrosinemia type 1: In silico modeling and predicted pathogenic effect of a novel missense FAH variant
Authors: Ibarra‐González Isabel , Fernández‐Lainez Cynthia , Alcántara‐Ortigoza Miguel Angel , González‐Del Angel Ariadna , Fernández‐Henández Liliana , Guillén‐López Sara , Belmont‐Martínez Leticia , López‐Mejía Lizbeth , Varela‐Fascinetto Gustavo , Vela‐Amieva Marcela
Published: October 2019

Background

Tyrosinemia type 1 (HT1, MIM#276700) is caused by a deficiency in fumarylacetoacetate hydrolase (FAH) and it is associated with severe liver and renal disfunction. At present, the mutational FAH (15q25.1, MIM*613871) spectrum underlying HT1 in the Mexican population is unknown. The objective of this study was to determine the FAH genotypes in eight nonrelated Mexican patients with HT1, who were diagnosed clinically.

Methods

Sequencing of FAH and their exon–intron boundaries and in silico protein modeling based on the crystallographic structure of mouse FAH.

Results

We identified pathogenic variants in 15/16 studied alleles (93.8%). Nine different variants were found. The most commonly detected HT1‐causing allele was NM_000137.2(FAH):c.3G > A or p.(?) [rs766882348] (25%, n = 4/16). We also identified a novel missense variant NM_000137.2(FAH):c.36C > A or p.(Phe12Leu) in a homozygous patient with an early and fatal acute form. The latter was classified as a likely pathogenic variant and in silico protein modeling showed that Phe‐12 residue substitution for Leu, produces a repulsion in all possible Leu rotamers, which in turn would lead to a destabilization of the protein structure and possible loss‐of‐function.

Conclusion

HT1 patients had a heterogeneous mutational and clinical spectrum and no genotype–phenotype correlation could be established.
Breakpoint delineation in 5p‐ patients leads to new insights about microcephaly and the typical high‐pitched cry
Authors: Chehimi Samar N. , Zanardo Évelin A. , Ceroni José R. M. , Nascimento Amom M. , Madia Fabrícia A. R. , Dias Alexandre T. , Filho Gil M. N. , Montenegro Marília M. , Damasceno Jullian , Costa Thaís V. M. M. , Gasparini Yanca , Kim Chong A. , Kulikowski Leslie D.
Published: October 2019

Background

Cri du chat syndrome (CdCS) is a rare syndrome caused by a partial or complete deletion of the short arm of chromosome 5 (5p‐). The main clinical features include a high‐pitched cry, facial asymmetry, microcephaly, round face at birth, epicanthal folds, hypotonia, delayed growth and development.

Methods

We studied 14 Brazilian patients with CdCS using genomic array in order to better define the 5p breakpoints and recognize copy number variations (CNVs) that contribute to clinical manifestations associated with the syndrome.

Results

Array confirmed terminal deletions in 13 patients and an interstitial deletion in one patient. It was also possible to map the breakpoints and associate a genomic region of 4.7 Mb to the development of head circumference and cat‐like cry. We also found other CNVs concomitant to the 5p deletion including a 9p duplication, a 17q deletion, and a 22q deletion in three different patients.

Conclusion

With advancements of molecular cytogenomic methods in the last two decades, it was possible to evidence cryptic alterations and improve the genotype–phenotype correlation. In this work, we describe a new genomic region associated with microcephaly and cat‐like cry and highlight the importance of precise delineation of 5p deletion breakpoints and detection of other CNVs in CdCS patients to improve genotype–phenotype correlation to perform a complete clinical and molecular diagnosis.
Weighted gene coexpression network analysis identifies a new biomarker of CENPF for prediction disease prognosis and progression in nonmuscle invasive bladder cancer
Authors: Shi Jiawei , Zhang Pu , Liu Lilong , Min Xiaobo , Xiao Yajun
Published: October 2019

Background

The dreadful prognosis of nonmuscle invasive bladder cancer mainly results from the delay in recognition of individuals with a high risk of progression. Thus, the emphasis of this work lies in developing valuable biomarkers that is conducive to accurately predicting the progression of NMIBC.

Methods

Microarray data from GSE32894 including 209 NMIBC samples were performed by weighted gene coexpression network analysis (WGCNA), which could find modules of highly correlated genes and relate modules to external sample traits. Besides, we constructed a protein–protein interaction to facilitate screening the hub gene. At last, we used RNA‐seq and microarray data and clinical information from ArrayExpress (E‐MTAB‐4321) and GSE13507 to select and validate the candidate gene.

Results

In current paper, blue module of 13 gene coexpression clusters we identified was selected as the key modules. Seven genes namely: CDCA8, CENPF, MCM6, MELK, PRC1, STIL, and TPX2 have been identified as candidate genes. Notably, among them, only elevated CENPF in NIMBC tissue was closely associated with low progression‐free survival (PFS) and overall survival (OS) rate in three datasets and had a large area under receiver operating characteristic (ROC) curve. Finally, CENPF was identified as an effective biomarker in NMIBC.

Conclusion

Therefore, our findings submit a new progressive and prognostic molecular marker and therapeutic target for NMIBC. Moreover, these genes that deserve to be further researched may improve the comprehension about the occurrence and development of superficial bladder cancer.
RETRACTED: Population genetics of 24 Y‐STR loci in Chinese Han population from Jilin Province, Northeast China
Authors: Xu Xiao‐ming , Zheng Ji‐long , Lou Yin , Wei Xiao‐han , Wang Bao‐jie , Yao Jun
Published: October 2019

Background

It is meaningful to expand the available population information on forensic medicine and to investigate the genetic characteristics of Han population from Jilin Province, Northeast China.

Methods

In this study, we investigated the genetic characteristics of 24 Y‐chromosomal short tandem repeat (STR) loci in 1,088 unrelated Chinese Han male individuals from Jilin Province, using DNATyperTM Y24 amplification kit. Additionally, we performed the population comparison between the Jilin population and the other nine reported populations based on the Y‐STR genotyping haplotypes.

Results

A total of 1,067 different haplotypes were found from 1,088 unrelated individuals, of which 1,046 were unique and 21 were shared by two individuals. The gene diversity values of 22 loci ranged from 0.3870 (DYS391) to 0.9668 (DYS385ab). The random match probability was 0.0010 with the discrimination capacity of 0.9807. Population comparison showed that there were minor differences compared to Beijing Chinese Han, China Manchu, Gansu Chinese Han, and Jiangsu Chinese Han, but major differences with respect to the populations of Guangdong Chinese Han, Yunnan Chinese Han, China Hui, China Korean, and China Tibetan.

Conclusion

Our results showed that the 24 Y‐STR loci in Jilin Han population are valuable for forensic application and human genetics.
A heterozygous point mutation of the ANKRD11 (c.2579C>T) in a Chinese patient with idiopathic short stature
Authors: Kang Yabin , He Dongye , Li Yanying , Zhang Yanhong , Shao Qian , Zhang Mei , Ban Bo
Published: October 2019

Background

Pathogenic variants of ANKRD11 have been reported to cause KBG syndrome characterized by short stature, characteristic facial appearance, intellectual disability, macrodontia, and skeletal anomalies. However, the direct clinical relevance of ANKRD11 mutation with short stature is yet unknown.

Methods

Here, we report a Chinese boy with idiopathic short stature (ISS) based on clinical and genetic characteristics. Comprehensive medical evaluations were performed including metabolic studies, endocrine function tests, bone X‐rays, and echocardiography. Whole‐exome and Sanger sequencing was used to detect and confirm genetic mutations associated with short stature in this patient, respectively. The pathogenicity of the variant was further predicted by several in silico prediction tools and repositories of sequence variation. Twenty‐four months follow‐up was performed to observe the growth rate of the patient treated with recombinant human growth hormone (GH).

Results

One heterozygous point mutation (c.2579C>T) was confirmed in the ANKRD11 gene of the patient and inherited from his mother. This mutation site was located within the highly conservative region of ANKRD11 protein and predicted to be possibly damaging in several in silico prediction programs and repositories of sequence variation. Additionally, patient underwent GH replacement therapy for 24 months exhibited good response to the treatment.

Conclusion

A heterozygous point mutation of AKNRD11 gene was identified in a Chinese patient with short stature phenotype. The patient was treated effectively with GH supplementation.
New data finds bias in people diagnosed with eating disorders
Authors: Canady Valerie A.
Published: October 2019

The number of 12‐month diagnosed prevalent cases of binge eating disorder (BED) was higher in women than in men across seven major markets, officials of GlobalData, a data analytics and consulting company, announced Sept. 18.
Spiritually integrated care shows promise for MH patients
Authors: Canady Valerie A.
Published: October 2019

Although interest in spiritually integrated therapy has grown substantially over the past two decades, few clinical methods exist for providing that kind of treatment to patients with acute psychiatric conditions, say the authors of a new study in the September issue of the American Journal of Psychotherapy. The study finds that the integration of spirituality and religion with mental health treatment can benefit patients.
A dual‐broadband base station antenna with ikebana‐like arrangement scheme
Authors: Huang He , Li Xiaoping , Liu Yanming
Published: October 2019

A dual‐broadband, dual‐polarized base station antenna is demonstrated in this paper. The proposed antenna has five parts: the lower‐band element, the upper‐band element, the passive dipoles, the rectangle baffles, and the reflector. The lower‐band element comprises of two full‐wave dipoles to provide higher gain. The upper‐band elements are located at the vacant area formed by the orthogonal arms of the lower‐band element, like ikebana, to maintain the compact size unaltered. The lower‐band element exhibits horizontal/vertical polarization, while the upper‐band element exhibits ±45° polarization. This multipolarization mode can improve the port isolation between the lower‐band and upper‐band elements, thus enhancing the effect of the receiving and transmitting diversity. To adjust the half‐power beamwidths of the lower‐band and upper‐band elements, the passive dipoles and rectangle baffles are added to the original reflector. As a result, the antenna can cover 0.69 to 0.96 GHz for the lower band and 1.7 to 2.7 GHz for the upper band with high isolation. High gain over the entire working bands is obtained simultaneously. All the results reveal that the antenna has perfect performance and is suitable for the high‐low frequency hybrid application scenario of base stations.
Isolation improvement of a two‐port PIFA for MIMO using a planar EBG ground
Authors: Abdelgwad Ahmad H. , Ali Mohammod
Published: October 2019

In this article, the mutual coupling reduction of a two‐port planar inverted‐F antenna (PIFA) using a planar electromagnetic bandgap (EBG) structure is presented and investigated for multiple input multiple output/diversity applications. The planar EBG structure is designed for etching on the ground plane of the device. The EBG and the antenna design parameters are identified and the frequency scalability of the design is illustrated by showing two separate designs at 2.45 and 3.50 GHz. The optimized 2.45 GHz design demonstrates 25 dB more coupling reduction compared to the state of the art PIFA with a slot on the ground. Analyses of efficiency and effective diversity gain are also performed which show excellent performance.
A compact W‐band quasi‐optical detector packaged by meta‐surface reflector and 3D‐printed lens
Authors: Qiao Hai‐Dong , Liu Hao , Mou Jin‐Chao , Lv Xin
Published: October 2019

This article presents a compact W‐band quasi‐optical detector that can be easily extended into an array for focal plane imaging applications. The quasi‐optical detector consists of an antenna‐coupled detector packaged by a low‐profile meta‐surface reflector and a 3D‐printed lens. The antenna‐coupled detector with a GaAs Schottky diode is printed on a low‐cost and low‐loss laminate. To extract the detected low‐frequency signal within a small footprint, a pair of vertical metallic posts instead of conventional planar strips is designed and loaded at the ends of the antenna. For facilitating unidirectional radiation patterns, a low‐profile meta‐surface reflector with a thickness of λg/8 is placed under the antenna‐coupled detector. In addition, a 3D‐printed dielectric lens is loaded upon the antenna‐coupled detector, which can enhance the radiation gain by 6 dB. Both the meta‐surface reflector and the 3D‐printed lens are fixed by an asymmetric H‐shaped framework, forming a low‐cost and lightweight package for the detector. Based on the proposed detector, a W‐band 1 × 16 array is experimentally demonstrated, exhibiting a responsivity of 100 V/W~410 V/W from 92 to 110 GHz. The total size of the array is only 27 λ × 4 λ × 1.8 λ, where λ is the free space wavelength at the center frequency.
Energie: Japans Masterplan
Authors: Schmid Rolf D.
Published: October 2019

Das japanische Wirtschafts‐ und Handelsministerium treibt die Forschung für H2 als Energieträger mobiler und stationärer Anwendungen voran. Dazu gehören Brennstoffzellen und E‐Mobilität. Für einen optimalen Energiemix sind technische und wirtschaftliche Aspekte zu berücksichtigen.
Was eines alleine bewirken kann
Authors: Scherer Ulrich
Published: October 2019

Durch Kernumwandlung entstehen Atome anderer Elemente, die zu anderen Gruppen gehören und sich chemisch anders verhalten als die Ausgangsstoffe. Was geschieht bei diesen hochdynamischen Prozessen auf atomarer Ebene?
Mein Lieblingselement: Quecksilber
Authors: Hoch Constantin
Published: October 2019

Quecksilber ist böse. Extrapoliert man die seit Jahrzehnten laufenden politischen Entwicklungen einige Jahre in die Zukunft, wird es wohl das erste Element sein, das verboten wird. Denn Quecksilber ist der Inbegriff des Giftigen, der Umweltzerstörung, der industriellen Verseuchung ganzer Landstriche. Keiner mag Quecksilber. Das war aber nicht immer so.
Bindungen aktivieren und Redoxreaktionen
Authors: Sarkar Biprajit , Vöhringer Peter , Heinze Katja , Förster Christoph
Published: October 2019

Lassen sich selektive Reaktionen an Übergangsmetallzentren nicht thermisch aktivieren, funktioniert oft Photoaktivierung. Dabei entstehen zum Beispiel Übergangsmetall‐Alkankomplexe oder hochvalente Metallkomplexe. Aber Photonen können noch mehr: Sie aktivieren Wirkstoffe oder helfen, Quantenausbeuten zu bestimmen.
Zellen statt Tiere?
Authors: Leusmann Eliza
Published: October 2019

Einen Weg zu Testsystemen aus Stammzellen, die Tierversuche ersetzen können, schlagen Dortmunder Wissenschaftler vor.
Prozesse: Das Handwerk nicht vergessen
Authors: Ehrensberger Christian
Published: October 2019

Die Chemie in der Produktion funktioniert; nun gilt es, die Verfahren durch Digitalisieren effizienter zu machen – diesem Motiv folgen viele. Aber klassische chemische Arbeitsweisen vermögen nach wie vor weitere Potenziale zu erschließen.
Der Physikochemiker Carl Tubandt und die Feststoffbatterien
Authors: Kuschel Frank
Published: October 2019

Einer der Pioniere der Batterieforschung war Carl Tubandt. Er lehrte und arbeitete an der Universität in Halle über die Leitfähigkeit nichtmetallischer Festkörper, bis ihm dies verwehrt wurde.
Hybridization and Population Genetics of Alligator Gar in Lake Texoma
Authors: Taylor Andrew T. , Long James M. , Snow Richard A. , Porta Michael J.
Published: October 2019

The Alligator Gar Atractosteus spatula (AG) is a long-lived fish of growing management and conservation interest. Situated on the border of Texas and Oklahoma, Lake Texoma supports one of the last robust AG populations in Oklahoma; however, a genetic evaluation of this population is lacking. We genotyped AG individuals with 17 microsatellite loci, 7 of which also cross-amplified in three sympatric Lepisosteus species: the Longnose Gar L. osseus (LN), Shortnose Gar L. platostomus (SN), and Spotted Gar L. oculatus (SP). Bayesian assignment analyses conducted in STRUCTURE and NewHybrids confirmed that a field-identified hybrid was an F1 AG × LN and identified five other individuals that were suspected backcrosses (three LN × SN; two SN × SP). Alligator Gar had the lowest observed heterozygosity (0.179) and the lowest allelic richness (1.682) among the nonhybrid individuals of the four gar species examined. We also examined the potential for population structure and differences in pairwise relatedness (r) between two areas where AG are commonly encountered within Lake Texoma: the Red River and Washita River arms. No population structure was detected using noninformative or location priors in STRUCTURE, and estimates of r produced by the TrioML estimator in COANCESTRY were not significantly different between arms (overall mean r = 0.199). Point estimates of effective population size ranging from 16.3 to 29.2 suggested that the AG population may be vulnerable to the effects of inbreeding depression and random genetic drift. Results provide a genetic status assessment of AG in Lake Texoma and a baseline for future management and conservation decisions within Lake Texoma and surrounding regions.
Facilitating an early career transition pathway to community nursing: A Delphi Policy Study
Authors: Chamberlain Diane , Harvey Clare , Hegney Desley , Tsai Lily , Mclellan Sandy , Sobolewska Agnieszka , Wood Elspeth , Hendricks Joyce , Wake Troy
Published: October 2019

Aim

To further develop and validate a new model of the early career transition pathway in the speciality of community nursing.

Design

Delphi policy approach, guided by a previous systematic review and semi‐structured interviews.

Methods

Four rounds of an expert panel (N = 19). Rounds one, two and four were questionnaires consisting of a combination of closed (Likert response) and open‐ended questions. Round three comprised of a focus group conducted using virtual meeting technology.

Results

The final model demonstrated reliable and valid measures. There were deficiencies in “pre‐entry”—where the marketing of community nursing was negligible and the support around orientation informal and minimal, mainly due to tight budgetary concerns. Community practice holds a whole new dimension for nurses transitioning from acute care as the concept of “knowing your community” took time and support—time to be accepted reciprocally and develop a sense of belonging to the community.