bluuebunny/crossref_metadata_2025_split huggingface dataset:
Mutational and clinical spectrum in a cohort of Chinese patients with hereditary nemaline myopathy
Authors: Wang Qi , Hu Zhenxian , Chang Xingzhi , Yu Meng , Xie Zhiying , Lv He , Zhang Wei , Xiong Hui , Yuan Yun , Wang Zhaoxia 
Published: March 2020

AbstractHereditary nemaline myopathy (NM) is one of the most common congenital myopathies with the histopathological findings of nemaline bodies. We used targeted next‐generation sequencing to identify causative mutations in 48 NM patients with confirmed myopathological diagnosis, analyze the mutational spectrum and phenotypic features. Furthermore, reverse transcription polymerase chain reaction (RT‐PCR) was used to confirm the pathogenic effect of one nebulin (NEB) splicing variant. The results showed that variants were found in five NM‐associated genes, including NEB, actin alpha 1 (ACTA1), troponin T1, Kelch repeat and BTB domain‐containing 13, and cofilin‐2, in 34 (73.9%), 7 (15.2%), 3 (6.5%), 1 (2.2%), and 1 (2.2%) patients, respectively, in a total of 46/48 (95.8%) NM patients. Of the total 64 variants identified, 51 were novel variants including 26 pathogenic, 1 probably pathogenic, and 24 variant of uncertain significance (VUS). Notably, one NEB splicing mutation, c.21417+3A>G causing exon 144 splicing (NM_001164508.1), as confirmed by RT‐PCR, was found in 52.9% (18 patients) of NEB variant‐carrying patients. Typical congenital NM, the most common clinical subtype (60.4%), was associated with five NM genes. We concluded that hereditary NM showed a highly variable genetic spectrum. NEB was the most frequent causative gene in this Chinese cohort, followed by ACTA1. We found a hotspot splicing mutation in NEB among Chinese cohort.
Word Order Typology Interacts With Linguistic Complexity: A Cross‐Linguistic Corpus Study
Authors: Yadav Himanshu , Vaidya Ashwini , Shukla Vishakha , Husain Samar 
Published: March 2020

AbstractMuch previous work has suggested that word order preferences across languages can be explained by the dependency distance minimization constraint (Ferrer‐i Cancho, 2008, 2015; Hawkins, 1994). Consistent with this claim, corpus studies have shown that the average distance between a head (e.g., verb) and its dependent (e.g., noun) tends to be short cross‐linguistically (Ferrer‐i Cancho, 2014; Futrell, Mahowald, & Gibson, 2015; Liu, Xu, & Liang, 2017). This implies that on average languages avoid inefficient or complex structures for simpler structures. But a number of studies in psycholinguistics (Konieczny, 2000; Levy & Keller, 2013; Vasishth, Suckow, Lewis, & Kern, 2010) show that the comprehension system can adapt to the typological properties of a language, for example, verb‐final order, leading to more complex structures, for example, having longer linear distance between a head and its dependent. In this paper, we conduct a corpus study for a group of 38 languages, which were either Subject–Verb–Object (SVO) or Subject–Object–Verb (SOV), in order to investigate the role of word order typology in determining syntactic complexity. We present results aggregated across all dependency types, as well as for specific verbal (objects, indirect objects, and adjuncts) and nonverbal (nominal, adjectival, and adverbial) dependencies. The results suggest that dependency distance in a language is determined by the default word order of a language, and crucially, the direction of a dependency (whether the head precedes the dependent or follows it; e.g., whether the noun precedes the verb or follows it). Particularly we show that in SOV languages (e.g., Hindi, Korean) as well as SVO languages (e.g., English, Spanish), longer linear distance (measured as number of words) between head and dependent arises in structures when they mirror the default word order of the language. In addition to showing results on linear distance, we also investigate the influence of word order typology on hierarchical distance (HD; measured as number of heads between head and dependent). The results for HD are similar to that of linear distance. At the same time, in comparison to linear distance, the influence of adaptability on HD seems less strong. In particular, the results show that most languages tend to avoid greater structural depth. Together, these results show evidence for “limited adaptability” to the default word order preferences in a language. Our results support a large body of work in the processing literature that highlights the importance of linguistic exposure and its interaction with working memory constraints in determining sentence complexity. Our results also point to the possible role of other factors such as the morphological richness of a language and a multifactor account of sentence complexity remains a promising area for future investigation.
Eccrine duct dilatation in neutrophilic scarring alopecias
Authors: Tababa Erin , Gonzalez Manuel , Chung Hye Jin 
Published: March 2020

AbstractBackgroundEccrine duct dilatation (EDD) has been noted to occur significantly more often in primary lymphocytic scarring alopecias compared with non‐scarring alopecias, thus serving as a possible histopathologic marker for primary scarring alopecias with a lymphocytic infiltrate. This study aims to determine the presence and role of EDD in primary neutrophilic scarring alopecias.MethodsWe performed a retrospective review comparing primary scarring alopecia (neutrophilic, n = 90; lymphocytic, n = 100) and non‐scarring alopecia (n = 123) for presence of EDD, seen in Boston University School of Medicine between 2013 and 2017.ResultsEDD was more commonly seen in primary neutrophilic scarring (62.2%, 56/90) and primary lymphocytic scarring alopecias (54.0%, 54/100) than in non‐scarring alopecias (25.2%, 31/123) (P < 0.001). Albeit uncommon, non‐scarring alopecias exhibited the biggest ratio of dilated eccrine duct lumen to background duct lumen (14.33), followed by lymphocytic (10.99) and neutrophilic scarring alopecias (6.66).ConclusionEDD is seen more frequently in primary scarring alopecias compared with non‐scarring alopecias and usually found in sections containing inflammation and dermal fibrosis, serving as a possible histopathologic clue for a scarring process. Non‐scarring alopecias have significantly fewer but considerably larger EDD which, may imply a different pathologic cause.
Cytotoxic‐mediated spontaneous regression of inflammatory cutaneous metastases of breast carcinoma
Authors: Tomasini Carlo 
Published: March 2020

AbstractSpontaneous regression (SR) of cancer is a rare but well‐documented biological phenomenon, which is even rarer in the context of metastatic breast carcinoma. Different mechanisms of SR are still under debate, including immune‐mediated response. We herein report a case of the SR of intralymphatic cutaneous metastases of a breast carcinoma with spontaneously‐induced T‐cell‐mediated cytotoxic response. An 86‐year‐old female was diagnosed with locally advanced right breast carcinoma and axillary lymph node metastases, without distant metastases The patient refused any therapy. Six months afterwards, she developed multiple, asymptomatic purpura‐like plaques with prominent teleangectasias on her right chest wall, continuous to the previous surgical scar and on her ipsilateral abdomen. Skin biopsy showed aggregates of atypical cells admixed with erythrocyte thrombi within dilated dermal lymphatic vessels. SR of the cutaneous lesions occurred within 6 months and persisted at the 15 months follow‐up in the absence of therapy, whilst no signs of internal relapse were observed. Immunohistochemically, the estrogen‐negative, CK7‐positive, C‐erb B2‐positive intralymphatic metastases were associated with extensive infiltration of CD8‐positive cytototoxic T lymphocytes. Factors that may have precluded the implantation of intralymphatic metastases leading to SR are discussed, with local immune surveillance being one major hypothesis.
Motor behaviour in infancy is associated with neurological, cognitive, and behavioural function of children born to parents with reduced fertility
Authors: Wu Ying‐Chin , Heineman Kirsten R , La Bastide‐Van Gemert Sacha , Kuiper Derk , Drenth Olivares Machiel , Hadders‐Algra Mijna 
Published: March 2020

AimTo evaluate the associations between motor development in infancy and developmental outcomes at school age.MethodParticipants were 195 children (99 males, 96 females; mean age [SD] 9y 3mo [3mo], range 8y 4mo–10y 11mo) born to couples whose reduced fertility was or was not treated with assisted reproductive technologies. Motor behaviour was assessed at 4, 10, and 18 months with the Infant Motor Profile (IMP). IQ, neurological optimality score (NOS), and behavioural problem scores were measured at 9 years with the Wechsler Abbreviated Scale of Intelligence, minor neurological dysfunction assessment, and the Child Behavior Checklist respectively.ResultsChildren with a slow developmental trajectory in the IMP‐domain adaptability had an IQ 12.6 points lower (95% confidence interval [CI] 4.7–20.4) and an NOS 3.4 points lower (95% CI 0.7–6.2) at 9 years of age than children with typical adaptability development. Children with a slow developmental trajectory in the IMP‐domain performance had an IQ 5.0 points lower (95% CI 0.7–9.3) than children with typical performance development. A non‐optimal trajectory in IMP‐variation and a fluctuating trajectory in IMP‐fluency were associated with higher internalizing scores of 3.6 and 5.8 points respectively, than infants with optimal IMP‐domain trajectories.InterpretationIn relatively low‐risk children, motor behaviour in infancy was associated with neurological, cognitive, and behavioural function at school age.
Detection vision development in infants and toddlers with congenital vision disorders and profound‐severe visual impairment
Authors: Salt Alison T , O’Reilly Michelle A , Sakkalou Elena , Dale Naomi J 
Published: April 2020

AimTo investigate detection vision development in infants and toddlers with congenital disorders of the peripheral visual system (CDPVS) and severe to profound visual impairment (SVI/PVI).MethodThis was a longitudinal observational investigation of a cohort of infants with CDPVS (entry age 8–16mo) followed up 12 months later. Detection vision (Near Detection Scale [NDS]) and resolution acuity (Keeler Acuity Cards [KAC]) were assessed at each time point. Relationships between detection vision, resolution acuity, and age were investigated.ResultsThe study cohort comprised 80 children (39 females, 41 males), mean age 13 months (Time 1) and 26 months (Time 2); 22 (27.5%) with PVI (light perception at best) and 58 (72.5%) with SVI (basic ‘form’ vision) at Time 1. All children achieved a measure with the NDS, however only 35 per cent and 56 per cent at Time 1 and Time 2 respectively did so on KAC. Those with PVI at Time 1 showed no further improvement at Time 2, but 87 per cent of children with SVI showed improvement in vision. The median change in NDS score was 1.0 (range 1–7, SD 1.68).InterpretationVision development continues after 12 months of age in many toddlers if they have basic ‘form’ vision. A measure of detection vision is feasible in very young children when resolution acuity measurement is not achievable.What this paper adds

The Near Detection Scale (NDS) can measure low levels of vision when acuity is not otherwise measurable.

Vision can improve in toddlers with severe visual impairment who have some ‘form’ vision.

Infants with light perception at best by 12 months are unlikely to show improvement in vision.

There is a moderate negative relationship between the NDS and resolution acuity results.
Mixed phenotype acute leukemia: Biological profile, clinical characteristic and treatment outcomes: Report of the population‐based study
Authors: Zając‐Spychała Olga , Irga‐Jaworska Ninela , Drożyńska Elżbieta , Muszyńska‐Rosłan Katarzyna , Krawczuk‐Rybak Maryna , Zawitkowska Joanna , Kowalczyk Jerzy , Ćwiklińska Magdalena , Balwierz Walentyna , Mizia‐Malarz Agnieszka , Badowska Wanda , Kamieńska Elżbieta , Urasiński Tomasz , Kaczorowska Aneta , Kazanowska Bernarda , Chybicka Alicja , Wysocki Mariusz , Sędek Łukasz , Szczepański Tomasz , Woszczyk Mariola , Matysiak Michał , Młynarski Wojciech , Karolczyk Grażyna , Chaber Radosław , Wachowiak Jacek 
Published: March 2020

AbstractObjectivesThe aim of this population‐based, retrospective study was to analyze biological and clinical features and treatment results in children diagnosed with MPAL in all Polish pediatric oncology centers between 2007 and 2018.MethodsAmong 2893 children and adolescents diagnosed and treated for acute leukemia, 39 (1.35%) patients fulfilled the WHO criteria of MPAL. The T/myeloid phenotype was most prevalent.ResultsCytogenetics findings were seen in 2 (5.1%), while chromosomal abnormalities were found in 14 (35.9%) patients. Thirty‐two patients achieved CR‐1, including 23 (92.0%) treated with ALL‐directed chemotherapy and 9 (64.3%) treated with AML‐type induction regimens. Within these patients, 4 (12.5%) died due to treatment‐related complications and 11 (34.4%) relapsed. Nineteen (63.3%) patients underwent allo‐HSCT in CR‐1 and 14 (73.7%) of them have been in CR‐1. In total, 17 (43.6%) patients remain in CR‐1 for 1‐12 years, including 14 (58.3%) with T/myeloid MPAL. The 5‐year pOS and pEFS were 51.8% and 44.2%, respectively. The overall survival for ALL‐directed therapy was significantly better than the one for AML‐type chemotherapy (P = .001). It was also better for patients who underwent HSCT in CR‐1 (P = .001).ConclusionsThe prognosis of MPAL is unsatisfactory, but initial treatment with ALL‐directed chemotherapy consolidated with allo‐HSCT improves the outcomes in MPAL.
Dangerous Knowledge: The Political, Personal, and Epistemological Promise of Feminist Research in Management and Organization Studies
Authors: Bell Emma , Meriläinen Susan , Taylor Scott , Tienari Janne 
Published: March 2020

AbstractFeminism is a theoretical perspective and social movement that seeks to reduce, and ultimately eradicate, sexist inequality and oppression. Yet feminist research remains marginal in the most prestigious management and organization studies (MOS) journals, as defined by the Financial Times 50 (FT50) list. Based on a review of how feminism is framed in these journals (1990–2018), we identify three overlapping categories of how feminism is represented: (i) as a conceptual resource which is used to address specific topics; (ii) as an empirical category associated with the study of specific types of organization or organizing practice; and, rarely, (iii) as a methodology for producing knowledge. While feminist knowledge exists beyond these parameters, such as in the journal Gender, Work & Organization, we suggest that the relative absence of explicitly feminist scholarship in the most prestigious MOS journals reflects an epistemic oppression which arises from the threat that feminism presents to established ways of knowing. Drawing on Sara Ahmed's work, we use the ‘sweaty concept’ of dangerous knowledge to show how feminism positions knowledge as personal, introducing a radical form of researcher subjectivity which relies on the acknowledgment of uncertainty. We conclude by calling for the epistemic oppression of feminist scholarship to be recognized and redressed so the potential of feminism as a way of knowing about organizations and management can be realized. This, we argue, would enable feminist research praxis in MOS to develop as an alternative location of, in bell hooks' term, healing that challenges the main/malestream.
Articaine efficacy and safety in young children below the age of four years: An equivalent parallel randomized control trial
Authors: Elheeny Ahmad Abdel Hamid 
Published: March 2020

AbstractBackgroundPain control is a mandatory aspect in pediatric dentistry office through local anesthesia.AimTo assess the safety and efficacy of 4% articaine local anesthetic in young children below four years old.DesignAn equivalent randomized control trial with two parallel arms included 184 young children (92 per group) aged from 36 to 47 months seeking pulpotomy of mandibular primary molars which performed after buccal infiltration injection. The control group received lidocaine hydrochloride 2% with epinephrine 1:100 000. The intervention was articaine hydrochloride 4% with epinephrine 1:100 000. Children's behavior during injection and treatment have assessed using Faces, Legs, Activity, Cry, and Consolability (FLACC) and child's behavior using Frankl Behavior Rating Scale (FBRS). In addition, post‐operative complications have been addressed.ResultsBoth anesthetic agents were equivalent during the injection phase. During the treatment phase, the absolute risk difference (ARR) between the two groups was 0.120 (95% CI: −0.003; 0.243). The maximum limit of 95% CI surpassed the margin of equivalence, indicating that less pain has been expressed during pulpotomy among children delivered articaine when compared to their counterparts in the lidocaine group. Concerning post‐operative complications, no statistically significant difference was detected between the two anesthetic drugs.ConclusionThe findings supported the efficient and secure use of articaine hydrochloride 4% with epinephrine 1:100 000 to treat children between the ages of 3 and below 4 years old.
When a growth mindset can backfire and cause escalation of commitment to a troubled information technology project
Authors: Lee Jong Seok , Keil Mark , Wong Kin Fai Ellick 
Published: April 2020

AbstractThis research focuses on information technology (IT) project managers' growth mindset concerning IT project management (PM) ability and investigates how such a mindset can promote escalation of commitment to a troubled IT project. Specifically, we suggest that the growth mindset of IT PM ability promotes prospective achievement motivation and can lead IT project managers to escalate their commitment to an IT project despite negative feedback suggesting that the project may not be completed successfully. Through a series of three experiments with 351 IT project managers, we obtained consistent support for our hypotheses suggesting that the growth mindset of IT PM ability promotes IT project escalation and this effect is partially mediated by anticipated regret about project failure and anticipated likelihood of project success. In addition, in the three experiments we found that when the project involves an unfamiliar technology the indirect effect of the growth mindset of IT PM ability through anticipated likelihood of project success is stronger than when the project involves a familiar technology.
Cryptic speciation in the ectocommensal Bdelloura candida (Platyhelminthes, Tricladida, Maricola) follows habitat specialization of the American horseshoe crab, Limulus polyphemus
Authors: Roux Elizabeth L. , Giribet Gonzalo 
Published: March 2020

AbstractIn strict symbiotic associations, the genetic structure of the symbiont often mirrors that of its host, with interesting implications for population dynamics and phylogeography. An unresolved case of symbiotic specificity and phylogeographic consequence is the relationship between the marine triclad Bdelloura candida and its host, the American horseshoe crab, Limulus polyphemus. A recent study by Riesgo et al. (2017, Marine Biology, 164, 111) identified a strong genetic break between populations of B. candida in the Gulf of Mexico and the Atlantic Ocean but had minimal sampling around the Florida peninsula such that the exact location of the boundary zone was not specified. To solve this, a comprehensive analysis of 16S rRNA and ITS2 genetic markers was conducted from new collections around the Florida peninsula. A clear and significant genetic break was identified between populations of supposed B. candida between Cumberland Island, Georgia, and Mosquito Lagoon, Florida. This genetic break establishes two cryptic lineages, an Atlantic population as far south as Georgia and a Floridian population inclusive of the entire peninsula and Gulf of Mexico, potentially due to niche partitioning of the unique intertidal habitats of its horseshoe crab hosts in Florida. This result directly refutes the previous hypothesis that a population break exists between the coasts of the Atlantic Ocean and Gulf of Mexico, and instead matches the genetic break of its host. Furthermore, a third cryptic lineage was identified in Key West. Overall, this work demonstrates the challenges in maintaining genetic connections between populations of both B. candida and L. polyphemus across their distributions, and poses meaningful implications for both species in the larger context of marine conservation and biodiversity.
Opposed bands of cilia in the nonfeeding larvae of the serpulid annelid Salmacina tribranchiata
Authors: Pernet Bruno 
Published: March 2020

AbstractThe nonfeeding planktonic larvae of marine invertebrates typically lack larval feeding structures. One puzzling exception to this generalization is the annelid clade Sabellidae, in which nonfeeding larvae possess ciliary bands (specifically, food groove and metatroch) that, to the best of our knowledge, have no function other than in feeding. Nishi and Yamasu (1992b, Bulletin of the College of Sciences, University of the Ryukyus, 54, 107–121) published a scanning electron micrograph showing that nonfeeding larvae of the serpulid annelid Salmacina dysteri also possess food groove and metatrochal cilia. Here I demonstrate that nonfeeding larvae of Salmacina tribranchiata also bear ciliary bands identifiable as food groove and metatroch by position. High‐speed video of ciliary beat patterns shows that, together with the prototrochal cilia, these bands function in an opposed band system. The presence of feeding structures in nonfeeding annelid larvae is thus more widely distributed than previously recognized. The presence of feeding structures may make evolutionary transitions to planktotrophy more likely, and may underlie an inferred origin of larval feeding in the common ancestor of one of the two major clades of serpulid annelids, Serpulinae.
SENP3 in monocytes/macrophages up‐regulates tissue factor and mediates lipopolysaccharide‐induced acute lung injury by enhancing JNK phosphorylation
Authors: Chen Xuelian , Lao Yimin , Yi Jing , Yang Jie , He Shuangjun , Chen Yi 
Published: April 2020

AbstractThe mechanisms underlying coagulation abnormalities in sepsis and septic acute lung injury remain unclear. Tissue factor (TF) initiates coagulation; its production can be regulated by reactive oxygen species (ROS); and monocytes/macrophages produce pathological TF during sepsis. The SUMO2/3 protease SENP3 is redox‐sensitive, and SENP3 accumulation in lipopolysaccharide (LPS)‐activated macrophages is ROS‐dependent. To explore whether SENP3 contributes to LPS‐activated coagulation, we used mice with Senp3 conditional knockout (cKO) in myeloid cells. In the model of LPS‐induced sepsis, SENP3 cKO mice exhibited less severe acute lung injury than SENP3 fl/fl mice. SENP3 cKO mice exhibited decreased TF expression in monocytes and alveolar macrophages, with consequently compromised coagulation in their blood and lungs. In vitro results showed that ROS‐induced SENP3 accumulation contributed to LPS‐induced TF expression, which was reduced by JNK inhibitor SP600125. Furthermore, mice injected with LPS following SP600125 (75 mg/kg) treatment showed decreased monocytes/macrophages TF production and alleviated coagulation activation, with less severe lung injury and higher survival rates. Collectively, the results suggest that SENP3 mediates LPS‐induced coagulation activation by up‐regulating monocyte/macrophage TF production in a JNK‐dependent manner. This work provides new insights into ROS regulation of LPS‐activated coagulation and reveals a link between SUMOylation and coagulation.