bluuebunny/crossref_metadata_2025_split huggingface dataset:
Maternal transmission of a mild Coffin–Siris syndrome phenotype caused by a SOX11 missense variant
Authors: Hanker Britta , Gillessen-Kaesbach Gabriele , Hüning Irina , Lüdecke Hermann-Josef , Wieczorek Dagmar 
Published: March 2021

AbstractHere we report for the first time on the maternal transmission of mild Coffin–Siris syndrome (CSS) caused by a SOX11 missense variant. We present two sisters with intellectual disability and muscular hypotonia born to non-consanguineous parents. Cogan ocular motor apraxia was present in both sisters. Body measurements were in a normal range. The mother and both daughters showed hypoplastic nails of the fifth toes. A missense variant in SOX11 [c.139 G > A; p.(Gly47Ser)] in both sisters and their mother was identified. Since 2014, variants in SOX11 are known to cause mild CSS. Most described patients showed intellectual disability, especially concerning acquired language. All of them had hypoplastic nails of the fifth toes. It is of note, that some of these patients show Cogan ocular motor apraxia. The facial dysmorphic features seem not to be specific. We suggest that the combination of Cogan ocular motor apraxia, hypoplastic nails of fifth toes, and developmental delay give the important diagnostic clue for a variant in the SOX11 gene (OMIM 615866, MR 27).
Genetic co-expression networks contribute to creating predictive model and exploring novel biomarkers for the prognosis of breast cancer
Authors: Li Yuan-Kuei , Hsu Huan-Ming , Lin Meng-Chiung , Chang Chi-Wen , Chu Chi-Ming , Chang Yu-Jia , Yu Jyh-Cherng , Chen Chien-Ting , Jian Chen-En , Sun Chien-An , Chen Kang-Hua , Kuo Ming-Hao , Cheng Chia-Shiang , Chang Ya-Ting , Wu Yi-Syuan , Wu Hao-Yi , Yang Ya-Ting , Lin Chen , Lin Hung-Che , Hu Je-Ming , Chang Yu-Tien 
Published: March 2021

AbstractGenetic co-expression network (GCN) analysis augments the understanding of breast cancer (BC). We aimed to propose GCN-based modeling for BC relapse-free survival (RFS) prediction and to discover novel biomarkers. We used GCN and Cox proportional hazard regression to create various prediction models using mRNA microarray of 920 tumors and conduct external validation using independent data of 1056 tumors. GCNs of 34 identified candidate genes were plotted in various sizes. Compared to the reference model, the genetic predictors selected from bigger GCNs composed better prediction models. The prediction accuracy and AUC of 3 ~ 15-year RFS are 71.0–81.4% and 74.6–78% respectively (rfm, ACC 63.2–65.5%, AUC 61.9–74.9%). The hazard ratios of risk scores of developing relapse ranged from 1.89 ~ 3.32 (p < 10–8) over all models under the control of the node status. External validation showed the consistent finding. We found top 12 co-expressed genes are relative new or novel biomarkers that have not been explored in BC prognosis or other cancers until this decade. GCN-based modeling creates better prediction models and facilitates novel genes exploration on BC prognosis.
Trends in the incidence and mortality of legionellosis in Japan: a nationwide observational study, 1999–2017
Authors: Fukushima Shinnosuke , Hagiya Hideharu , Otsuka Yuki , Koyama Toshihiro , Otsuka Fumio 
Published: March 2021

AbstractThis study examined temporal trend, seasonality, and geographical variations of legionellosis incidence and mortality in Japan. This nationwide observational study used the Japanese Vital Statistics and Infectious Diseases Weekly Report (1999–2017) data to calculate legionellosis crude and age-adjusted incidence and mortality rates per 100,000 population by age and sex. Incidence was compared among the 4 seasons and regional incidence among 47 prefectures. Of 13,613 (11,194 men) people with legionellosis in Japan, 725 (569 men) were fatal. Increasing incidence trend occurred from 0.0004 (1999) to 1.37 (2017) per 100,000 population. People aged ≥ 70 years accounted for 43.1% overall; men’s age-adjusted incidence rate was consistently approximately five times higher than for women. Significantly higher incidence occurred in summer than in winter (p = 0.013). Geographically, highest incidence (≥ 2.0 per 100,000 population) occurred in Hokuriku District, with increasing trends in Hokkaido and middle-part of Japan. Estimated fatality rates decreased consistently at 5.9% (95% confidence interval: − 8.1, − 3.5) annually, from 1999 to 2017, with no trend change point. Increasing legionellosis incidence occurred in Japan during 1999–2017, with declining estimated fatality rates. In this aging society and warming world, disease clinical burden may further deteriorate in future due to increasing incidence trends.
Longitudinal study of the scalp microbiome suggests coconut oil to enrich healthy scalp commensals
Authors: Saxena Rituja , Mittal Parul , Clavaud Cecile , Dhakan Darshan B. , Roy Nita , Breton Lionel , Misra Namita , Sharma Vineet K. 
Published: March 2021

AbstractDandruff is a recurrent chronic scalp disorder, affecting majority of the population worldwide. Recently a metagenomic study of the Indian scalp microbiome described an imperative role of bacterial commensals in providing essential vitamins and amino acids to the scalp. Coconut oil and its formulations are commonly applied on the scalp in several parts of the world to maintain scalp health. Thus, in this study we examined the effect of topical application of coconut oil on the scalp microbiome (bacterial and fungal) at the taxonomic and functional levels and their correlation with scalp physiological parameters. A 16-weeks-long time-course study was performed including 12-weeks of treatment and 4-weeks of relapse phase on a cohort of 140 (70 healthy and 70 dandruff) Indian women, resulting in ~ 900 metagenomic samples. After the treatment phase, an increase in the abundance ofCutibacterium acnesandMalassezia globosain dandruff scalp was observed, which were negatively correlated to dandruff parameters. At the functional level, an enrichment of healthy scalp-related bacterial pathways, such as biotin metabolism and decrease in the fungal pathogenesis pathways was observed. The study provides novel insights on the effect of coconut oil in maintaining a healthy scalp and in modulating the scalp microbiome.
CMIP5 climate projections and RUSLE-based soil erosion assessment in the central part of Iran
Authors: Hateffard Fatemeh , Mohammed Safwan , Alsafadi Karam , Enaruvbe Glory O. , Heidari Ahmad , Abdo Hazem Ghassan , Rodrigo-Comino Jesús 
Published: March 2021

AbstractSoil erosion (SE) and climate change are closely related to environmental challenges that influence human wellbeing. However, the potential impacts of both processes in semi-arid areas are difficult to be predicted because of atmospheric variations and non-sustainable land use management. Thus, models can be employed to estimate the potential effects of different climatic scenarios on environmental and human interactions. In this research, we present a novel study where changes in soil erosion by water in the central part of Iran under current and future climate scenarios are analyzed using the Climate Model Intercomparison Project-5 (CMIP5) under three Representative Concentration Pathway-RCP 2.6, 4.5 and 8.5 scenarios. Results showed that the estimated annual rate of SE in the study area in 2005, 2010, 2015 and 2019 averaged approximately 12.8 t ha−1 y−1. The rangeland areas registered the highest soil erosion values, especially in RCP2.6 and RCP8.5 for 2070 with overall values of 4.25 t ha−1 y−1 and 4.1 t ha−1 y−1, respectively. They were followed by agriculture fields with 1.31 t ha−1 y−1 and 1.33 t ha−1 y−1. The lowest results were located in the residential areas with 0.61 t ha−1 y−1 and 0.63 t ha−1 y−1 in RCP2.6 and RCP8.5 for 2070, respectively. In contrast, RCP4.5 showed that the total soil erosion could experience a decrease in rangelands by − 0.24 t ha−1 y−1 (2050), and − 0.18 t ha−1 y−1 (2070) or a slight increase in the other land uses. We conclude that this study provides new insights for policymakers and stakeholders to develop appropriate strategies to achieve sustainable land resources planning in semi-arid areas that could be affected by future and unforeseen climate change scenarios.
Entomopathogenic fungi as the microbial frontline against the alien Eucalyptus pest Gonipterus platensis in Brazil
Authors: Jordan Carolina , dos Santos Paula Leite , Oliveira Leiliane Rodrigues dos Santos , Domingues Mauricio Magalhães , Gêa Bianca Cristina Costa , Ribeiro Murilo Fonseca , Mascarin Gabriel Moura , Wilcken Carlos Frederico 
Published: March 2021

AbstractThe eucalyptus snout beetle (ESB),Gonipterus platensis, is endemic to Australia but has become a major invasive, destructive pest of Brazilian eucalyptus plantations. Efforts to develop insecticides based on entomopathogenic fungi against ESB are limited by the lack of known virulent strains. We therefore explored the virulence of indigenous Brazilian strains of major entomopathogenic fungi—Beauveriaspp. andMetarhizium anisopliae—against ESB adults. We found widely varying virulence and later capacities for conidial production on infected adult cadavers. Two strains stood out,B. bassianaIBCB-240 andM. anisopliaeIBCB-364, as especially lethal for ESB adults under laboratory conditions, sporulated abundantly on infected insects, and also outperformed comparable strains used in commercial mycoinsecticides. Notably,B. bassianaIBCB-240 exhibited lower LT50values at low inoculum levels (≤ 107conidia mL−1) and smaller LC50values thanM. anisopliaeIBCB-364. Taken together, this study emphasizes natural variation in virulence among indigenousBeauveriaandMetarhiziumstrains against ESB adults and identifies fungal strains with superior lethality to existing commercialized strains for managing this eucalyptus pest in Brazil.
Carbohydrate-controlled serine protease inhibitor (serpin) production in Bifidobacterium longum subsp. longum
Authors: Duboux S. , Golliard M. , Muller J. A. , Bergonzelli G. , Bolten C. J. , Mercenier A. , Kleerebezem M. 
Published: March 2021

AbstractThe Serine Protease Inhibitor (serpin) protein has been suggested to play a key role in the interaction of bifidobacteria with the host. By inhibiting intestinal serine proteases, it might allow bifidobacteria to reside in specific gut niches. In inflammatory diseases where serine proteases contribute to the innate defense mechanism of the host, serpin may dampen the damaging effects of inflammation. In view of the beneficial roles of this protein, it is important to understand how its production is regulated. Here we demonstrate that Bifidobacterium longum NCC 2705 serpin production is tightly regulated by carbohydrates. Galactose and fructose increase the production of this protein while glucose prevents it, suggesting the involvement of catabolite repression. We identified that di- and oligosaccharides containing galactose (GOS) and fructose (FOS) moieties, including the human milk oligosaccharide Lacto-N-tetraose (LNT), are able to activate serpin production. Moreover, we show that the carbohydrate mediated regulation is conserved within B. longum subsp. longum strains but not in other bifidobacterial taxons harboring the serpin coding gene, highlighting that the serpin regulation circuits are not only species- but also subspecies- specific. Our work demonstrates that environmental conditions can modulate expression of an important effector molecule of B. longum, having potential important implications for probiotic manufacturing and supporting the postulated role of serpin in the ability of bifidobacteria to colonize the intestinal tract.
Speech-Language Pathologists as Expert and Fact Witnesses in Special Education Disputes and Civil Litigation Cases: A Tutorial
Authors: Seal Brenda Chafin , Power-deFur Lissa 
Published: March 2021

Purpose
Speech-language pathologists (SLPs) are not likely to enter practice in school systems with anticipation of special education disputes, or civil and criminal cases that could involve them either as fact or expert witnesses. In this tutorial, we differentiate between the roles of expert and fact witness with guidance to assist SLPs preparing to serve in either role.

Method
Using two sample cases, we present details of conflicts that involve SLPs; Case 1 involves an SLP as expert witness and Case 2 involves an SLP as a fact witness. We offer information to guide SLPs agreeing to serve as an expert witness, important preparation steps for SLPs as expert and fact witnesses, and practice suggestions, including attention to ethical codes, in serving either role.

Conclusions
We caution readers that special education, civil, and criminal disputes vary by case, state and federal statutes, and professional and personal details. We draw several recommendations from the two sample cases that should inform and guide any SLP involved as a fact witness or as an expert witness in cases of dispute.
Deficits in Processing of Lexical Tones in Mandarin-Speaking Children With Developmental Language Disorder: Electrophysiological Evidence
Authors: Cheng Ying-Ying , Wu Hsin-Chi , Shih Hsin-Yi , Yeh Pei-Wen , Yen Huei-Ling , Lee Chia-Ying 
Published: March 2021

Purpose
This study explored the neural marker indexing deficits in discriminating lexical tone changes in Mandarin-speaking children with developmental language disorders (DLDs) using mismatch negativity, an event-related potential component for auditory change detection. Mandarin has four lexical tones characterized by a high-level tone (T1), high-rising tone (T2), low-dipping tone (T3), and high-falling tone (T4), in which the T2/T3 contrast is acoustically less discriminable in developmental groups. Therefore, this study further examined how deficits in children with DLD would vary with tonal contrasts' acoustic saliency.

Method
Event-related potentials were measured using the multideviant oddball paradigm described by Lee et al. (2012), who used Mandarin syllables [i] in T3 as the standard sound (80%), T1 as the large deviant (10%), and T2 as the small deviant (10%). Twelve children with DLD aged between 4 and 6 years participated in this study, and 12 age-matched children with typical development were selected from the data set of Lee et al. (2012) as the controls.

Results
The T1/T3 change elicited adultlike mismatch negativity in both the DLD and control groups, while no group difference was revealed. The T2/T3 change elicited a robust positive mismatch response (P-MMR) in children with DLD, while the P-MMR was less significant in the control group. The group comparisons revealed a larger P-MMR in children with DLD than in the control group. Furthermore, children with lower scores in language assessments tend to reveal larger P-MMRs.

Conclusions
This study demonstrated that deficits in children with DLD in discriminating subtle lexical tone changes reflect greater positivity of P-MMR to T2/T3 change. This implies that MMR to T2/T3 may serve as a neural marker for evaluating language delay in preschoolers.
Assessment of Children With Hearing Loss and Co-Occurring Medical Disorders: Challenging Cases
Authors: Brown Taylor M. , Baas Becky S. , Stoeckel Ruth E. , Belf Lee A. , Poling Gayla L. 
Published: March 2021

Purpose
Assessing children with hearing loss and co-occurring medical disorders can be challenging. The purpose of this clinical focus article is to highlight multidisciplinary decision making and evaluation considerations when assessing communication skills of children with hearing loss and co-occurring disorders: velopharyngeal insufficiency, childhood apraxia of speech, and autism spectrum disorder.

Method
Case examples are described to illustrate multidisciplinary decision-making processes for assessing the communication skills of children with hearing loss who have co-occurring velopharyngeal insufficiency, childhood apraxia of speech, or autism spectrum disorder.

Conclusions
Clinicians must have knowledge of speech sound development, language development, and social communication for differential diagnosis and treatment planning for children with hearing loss and co-occurring disorders. A team-based approach is recommended when assessing and treating children with hearing loss. Speech-language pathologists and audiologists should feel comfortable recommending other professionals to help with differential diagnosis and treatment considerations when appropriate. Continued assessment and monitoring by a multidisciplinary team for individuals with hearing loss is recommended across the life-span.
Vapor condensation with daytime radiative cooling
Authors: Zhou Ming , Song Haomin , Xu Xingyu , Shahsafi Alireza , Qu Yurui , Xia Zhenyang , Ma Zhenqiang , Kats Mikhail A. , Zhu Jia , Ooi Boon S. , Gan Qiaoqiang , Yu Zongfu 
Published: March 2021

Significance
Traditionally, the cooling for passive vapor condensation is mainly provided by convection and conduction. However, these mechanisms do not work when the vapor temperature is near the ambient air temperature. At such temperatures, radiative condensation remains effective. However, existing radiative vapor condensers must operate during the nighttime. Here, a novel radiative-cooling technique is applied to extend radiative condensation to both daytime and nighttime. The technique uses engineered thermal radiators that do not require lithography or other costly fabrication techniques and can be manufactured to cover large areas. When combined with traditional convective and conductive condensers, this passive technology can potentially double the water production rate for passive water technologies.
Twenty-year economic impacts of deworming
Authors: Hamory Joan , Miguel Edward , Walker Michael , Kremer Michael , Baird Sarah 
Published: March 2021

Significance
The belief that investing in child health and nutrition can generate improvements in individuals’ future quality of life is the rationale for many policy initiatives around the world. Yet there remains limited evidence on the causal impacts of child health gains on adult living standards, especially in developing countries. This study contributes evidence that addresses leading methodological concerns, by using variation in child health via a randomized health intervention that provided deworming treatment to Kenyan children. We estimate impacts on individual living standards up to 20 y later among a representative sample of participants, and find those in the deworming treatment group experience meaningful gains in adult living standards and earnings, and shifts in sectors of residence and employment.
Raffaelea lauricola (laurel wilt).
Authors: Fraedrich Stephen 
Published: March 2021

Abstract

Laurel wilt is responsible for the death of hundreds of millions of redbay (Persea borbonia sensu lato) trees throughout the southeastern USA, and the disease is also having significant effects on other species such as sassafras (Sassafras albidum) in natural ecosystems and avocado (Persea americana) in commercial production areas of south Florida. Laurel wilt is caused by the pathogen Raffaelea lauricola, a fungal symbiont of the redbay ambrosia beetle, Xyleborus glabratus. Thus far, the disease is confined to members of the Lauraceae that are native to the USA, or native to such places as the Caribbean, Central America and Europe and grown in the USA. The beetle and fungus are native to Asia and were likely introduced with untreated solid wood packing material at Port Wentworth, Georgia in the early 2000s. Since that time laurel wilt has spread rapidly in the coastal plains of the southeastern USA, spreading north into central North Carolina, as far west as Texas, and reaching the southernmost counties of Florida. Current models suggest that X. glabratus can tolerate temperature conditions that occur throughout much of the eastern USA, and so the disease threatens sassafras throughout much of this region. The disease poses a threat to lauraceous species indigenous to other areas of the Americas as well as Europe and Africa.
Gomphocarpus physocarpus (balloon cotton bush).
Authors: Rojas-Sandoval Julissa , Acevedo-Rodríguez Pedro 
Published: March 2021

Abstract

G. physocarpus is a shrub, widely naturalized in tropical, subtropical and semiarid ecosystems. It commonly grows as a weed in waste places, disturbed sites, open woodlands, grasslands, wetlands, and along roadsides and it is also planted as an ornamental in gardens, yards and parks (Wagner et al., 1999; Motooka et al., 2003; Queensland Department of Primary Industries and Fisheries, 2011). In Hawaii and Australia, this species has been recorded invading active pastures and sugarcane plantations as well as coastal and dry forests (Motooka et al., 2003; Queensland Department of Primary Industries and Fisheries, 2011). Features such as high drought tolerance, fast-growing, weedy behaviour, and wind-dispersed seeds are factors facilitating the invasion of this species into new habitats. In addition, each plant produces large numbers of small seeds which are successfully dispersed by wind aided by the tuft of silky hairs attached to each seed (Notten, 2010). Currently, G. physocarpus is listed as invasive in Hawaii, French Polynesia, the Canary Islands, New Caledonia, China and Australia and as potentially invasive in Cuba, Jamaica, India and Italy (Oviedo Prieto et al., 2012; DAISIE, 2014; PIER, 2014; USDA-ARS, 2014).
Crassocephalum crepidioides (redflower ragleaf).
Authors: Rojas-Sandoval Julissa , Acevedo-Rodríguez Pedro 
Published: March 2021

Abstract

C. crepidiodes is an invasive herb included in the Global Compendium of Weeds and classified as one of the most aggressive weeds occurring in tropical and subtropical regions (Randall, 2012). It is a pioneer species with the capability to produce large amounts of hairy wind-dispersed seeds. However, Chen et al. (2009) suggest that seed dispersal ability is limited. Chen et al. (2009) report that the species has only a moderate invasive capacity and that its wide distribution in China possibly correlates with its cultivation.
Forficula auricularia (European earwig).
Authors: Maczey Norbert 
Published: March 2021

Abstract

The European earwig, Forficula auricularia, is a polyphagous insect that is native to large parts of Europe and western Asia as far east as western Siberia. In the early twentieth century it was accidentally introduced into North America where it became widespread in a number of states/provinces of both the USA and Canada. It has also invaded Australia and New Zealand, and more recently Mexico, Chile and the Falkland Islands. Although economic damage to vegetable and flower gardens is generally minor, when high population densities occur it is a major pest in gardens and greenhouses, and a significant nuisance in households. Within and sometimes also outside its native range it is also regarded as a beneficial organism used or encouraged as a biological control agent to control other insect pests in orchards and gardens.
Trichoconiella padwickii (stackburn disease).
Authors:   USA, USDA-ARS
Published: March 2021

Abstract

T. padwickii, previously known as Alternaria padwickii, is an asexually reproducing fungus that infects seeds of rice [Oryza sativa]. It is one of several fungi responsible for seed discolouration, seed rot and seedling blight, but has also been detected as a sheath-rotting pathogen (Naeimi et al., 2003). It occurs in southern Asia and in countries on other continents worldwide, but its presence in mainland North America is not confirmed. Transport to and transmission in new areas may be prevented by use of tested clean seed. Where the pathogen is already present, application of seed treatments should reduce disease incidence, but the fungus has an undetermined ability to survive as sclerotia in plant debris and soil.