bluuebunny/crossref_metadata_2025_split huggingface dataset:
The capacity-building role of community liaison workers with refugee communities in Victoria, Australia
Authors: Wei Karen , Chopra Prem , Strehlow Susie , Stow Mardi , Kaplan Ida , Szwarc Josef , Minas Harry 
Published: July 2021

Abstract
Background
A range of services within Australia and internationally have been developed that are focused on the engagement of individuals who are of refugee background to work as a liaison between their communities and mental health services. The Community Liaison Worker (CLW) role at the Victorian Foundation for Survivors of Torture (VFST) was developed in 2008 in order to engage in such capacity-building initiatives.

Aims
To review and document the establishment, evolution and current status of the VFST CLW role, and examine the perspectives of CLWs on their role in trauma-informed community capacity-building.

Methods
The study comprised of two stages: a historical case study of the development of the CLW role, and a qualitative research study based on interviews with CLWs in order to identify key themes regarding various aspects of their role and understand the facilitators and barriers to their work of trauma-informed capacity-building with their respective communities.

Results
The CLW role has evolved from the provision of direct services through joint work with Counsellor Advocates at VFST to a broader role that is focused on building the capacity of community members. Thematic analysis of interviews with the seven current CLWs identified the complexity of their dual role as members of their community and employees of VFST, their role in addressing short-term goals to meet community needs, and the long-term objective of empowering their community to become integrated and self-sufficient.

Conclusions
CLWs at VFST demonstrate important work of liaison workers in facilitating trauma-informed capacity-building initiatives that are of benefit to members of their communities and also to service providers.
Kdm3b haploinsufficiency impairs the consolidation of cerebellum-dependent motor memory in mice
Authors: Kim Yong Gyu , Bak Myeong Seong , Kim Ahbin , Kim Yujin , Chae Yun-Cheol , Kim Ye Lee , Chun Yang-Sook , An Joon-Yong , Seo Sang-Beom , Kim Sang Jeong , Lee Yong-Seok 
Published: July 2021

AbstractHistone modifications are a key mechanism underlying the epigenetic regulation of gene expression, which is critically involved in the consolidation of multiple forms of memory. However, the roles of histone modifications in cerebellum-dependent motor learning and memory are not well understood. To test whether changes in histone methylation are involved in cerebellar learning, we used heterozygousKdm3bknockout (Kdm3b+/−) mice, which show reduced lysine 9 on histone 3 (H3K9) demethylase activity. H3K9 di-methylation is significantly increased selectively in the granule cell layer of the cerebellum ofKdm3b+/−mice. In the cerebellum-dependent optokinetic response (OKR) learning,Kdm3b+/−mice show deficits in memory consolidation, whereas they are normal in basal oculomotor performance and OKR acquisition. In addition, RNA-seq analyses revealed that the expression levels of several plasticity-related genes were altered in the mutant cerebellum. Our study suggests that active regulation of histone methylation is critical for the consolidation of cerebellar motor memory.
Tolerability of a new amino acid-based formula for children with IgE-mediated cow’s milk allergy
Authors: Nocerino Rita , Di Scala Carmen , Coppola Serena , Giglio Veronica , Carucci Laura , Cosenza Linda , Voto Luana , Iannicelli Anna Maria , Luzzetti Anna , Berni Canani Roberto 
Published: July 2021

Abstract
Background
Amino acid-based formula (AAF) is a relevant dietary strategy for paediatric patients affected by cow’s milk allergy (CMA). The present study was designed to evaluate the hypoallergenicity of a new AAF in children with immunoglobulin (Ig)E-mediated CMA.

Methods
According to the criteria provided by the American Academy of Pediatrics Subcommittee on Nutrition and Allergic Diseases, we designed a prospective trial in CMA children (aged 1–36 months) aimed to demonstrate the hypoallergenicity of the new AAF in 90% of subjects with 95% confidence during the double-blind, placebo-controlled challenge (DBPCFC). A skin prick test (SPT) with the new AAF was also performed.

Results
Twenty-nine children [all Caucasian, 55.2% male, mean age (±SD) 16.9 ± 5.7 months] were enrolled. The SPT and the DBPCFC with the new AAF were negative in all study subjects.

Conclusions
The study results support the hypoallergenicity of the new AAF. This formula could be considered an additional dietary option for non-breastfed children affected by CMA.

Trial registration
The trial was registered in the ClinicalTrials.gov Protocol Registration System (ID number: NCT03909113).
Crohn disease-like enterocolitis remission after empagliflozin treatment in a child with glycogen storage disease type Ib: a case report
Authors: Rossi Alessandro , Miele Erasmo , Fecarotta Simona , Veiga-da-Cunha Maria , Martinelli Massimo , Mollica Carmine , D’Armiento Maria , Mozzillo Enza , Strisciuglio Pietro , Derks Terry G. J. , Staiano Annamaria , Parenti Giancarlo 
Published: July 2021

Abstract
Background
Besides major clinical/biochemical features, neutropenia and inflammatory bowel disease (IBD) constitute common complications of Glycogen storage disease type Ib (GSD Ib). However, their management is still challenging. Although previous reports have shown benefit of empagliflozin administration on neutropenia, no follow-up data on bowel (macro/microscopic) morphology are available. We herein present for the first time longitudinal assessment of bowel morphology in a GSD Ib child suffering from Crohn disease-like enterocolitis treated with empagliflozin.

Case presentation
A 14-year-old boy with GSD Ib and severe IBD was (off-label) treated with empagliflozin (20 mg/day) after informed oral and written consent was obtained from the patient’s parents. No adverse events were noted. Clinical symptoms and stool frequency improved within the first week of treatment. Pediatric Crohn disease activity index (PCDAI) normalised within the first month of treatment. Abdomen magnetic resonance imaging (MRI) performed 3 months after treatment initiation showed dramatic decrease in disease activity and length. Similar findings were reported on histology at 5.5 months. At 7.5 months hemoglobin levels normalised and fecal calprotectin almost normalised. Improved neutrophil count, metabolic control and quality of life were also noted. G-CSF dose was decreased by 33% and the patient was partly weaned from tube feeding.

Conclusions
This is the first report presenting extensive gastrointestinal morphology follow-up in a GSD Ib patient receiving empagliflozin. The present case suggests that empagliflozin can be safe and effective in inducing IBD remission in GSD Ib patients and can even postpone surgery. Future studies are required to confirm its effect over time and assess its benefit in various disease stages. The development of an international collaborating networks for systematic data collection is worthy.
Expanding the neurological and behavioral phenotype of White-Sutton syndrome: a case report
Authors: Donnarumma Bernadette , Riccio Maria Pia , Terrone Gaetano , Palma Melania , Strisciuglio Pietro , Scala Iris 
Published: July 2021

Abstract
Background
White-Sutton (WHSUS) is a recently recognized syndrome caused by mutations of the POGZ gene. Approximately 70 patients have been reported to date. Intellectual disability, hypotonia, behavioral abnormalities, autism, and typical facial dysmorphisms are recognized as WHSUS features; however, still few patients receive a comprehensive psychometric, behavioral and neurological examination. In this report, we describe the pediatric, dysmorphological, neurological, psychometric and behavioral phenotype in a new WHSUS patient due to a novel heterozygous POGZ mutation, highlighting the distinctive epileptic phenotype and the cognitive pattern.

Case presentation
The patient, an 8 years-old girl, presented history of hypotonia, motor and speech delay, and distinctive facial features. The diagnosis of WHSUS followed the identification of the de novo variant p.Asp828GlyfsTer36 (c.2482dupG) in the POGZ gene. The patient showed a distinctive neurological phenotype with the occurrence of both paroxysmal not-epileptic events in the first 6 months of age and EEG abnormalities without evidence of clinical seizures after the first year of age. Psychological and behavioral testing highlighted moderate intellectual and communication deficit, mild autism spectrum and visual-motor integration deficit.

Conclusions
This is the first described case of WHSUS with a co-existence of paroxysmal not-epileptic events and abnormal EEG without seizures in the same patient. Together with the available literature data, this observation suggests that paroxysmal not-epileptic events could be more frequent than expected and that this feature belongs to the WHSUS phenotypic spectrum. Autism is a known comorbidity of WHSUS but is still poorly investigated. Specific clinical testing could help detect also mild autistic phenotypes and better define autism prevalence in POGZ-related syndrome. Special attention should be given to symptoms such as stereotypies, social withdrawal, and hyperactivity that, when present, should be considered as possible signs of autism symptoms. The dissection of the neurological and behavioral phenotype is crucial for individualized therapies tailored to patient’s needs.
Alkaline post-incubation improves the saccharification of poplar after hydrogen peroxide–acetic acid pretreatment
Authors: Wen Peiyao , Zhang Ying , Zhu Junjun , Xu Yong , Zhang Junhua 
Published: July 2021

Abstract
Background
Hydrogen peroxide–acetic acid (HPAA) is widely used in pretreatment of lignocellulose because it has a good capability in selective delignification. However, high concentration (more than 60%) of HPAA increases the cost of pretreatment and the risk of explosion. In this work, alkaline post-incubation was employed to decrease the HPAA loading and improve the saccharification of poplar.

Results
Pretreatment with 100% HPAA removed 91.0% lignin and retained 89.9% glucan in poplar. After poplar was pretreated by 100% HPAA at 60 °C for 2 h, the glucan conversion in enzymatic hydrolysis by cellulase increased to 90.1%. Alkaline incubation reduced the total lignin, surface lignin, and acetyl group of HPAA-pretreated poplar. More than 92% acetyl groups of HPAA-pretreated poplar were removed by alkaline incubation with 1.0% NaOH at 50 °C for 1 h. After incubation of 60% HPAA-pretreated poplar with 1.0% NaOH, the glucan conversion enhanced to 95.0%. About 40% HPAA loading in pretreatment was reduced by alkaline incubation without the decrease of glucose yield.

Conclusions
Alkaline post-incubation had strong ability on the deacetylation and delignification of HPAA-pretreated poplar, exhibiting a strong promotion on the enzymatic hydrolysis yield. This report represented alkaline incubation reduced the HPAA loading, improved pretreatment safety, exhibiting excellent potential application in saccharification of poplar.
AF10 (MLLT10) prevents somatic cell reprogramming through regulation of DOT1L-mediated H3K79 methylation
Authors: Uğurlu-Çimen Deniz , Odluyurt Deniz , Sevinç Kenan , Özkan-Küçük Nazlı Ezgi , Özçimen Burcu , Demirtaş Deniz , Enüstün Eray , Aztekin Can , Philpott Martin , Oppermann Udo , Özlü Nurhan , Önder Tamer T. 
Published: July 2021

AbstractBackgroundThe histone H3 lysine 79 (H3K79) methyltransferase DOT1L is a key chromatin-based barrier to somatic cell reprogramming. However, the mechanisms by which DOT1L safeguards cell identity and somatic-specific transcriptional programs remain unknown.ResultsWe employed a proteomic approach using proximity-based labeling to identify DOT1L-interacting proteins and investigated their effects on reprogramming. Among DOT1L interactors, suppression of AF10 (MLLT10) via RNA interference or CRISPR/Cas9, significantly increases reprogramming efficiency. In somatic cells and induced pluripotent stem cells (iPSCs) higher order H3K79 methylation is dependent on AF10 expression. In AF10 knock-out cells, re-expression wild-type AF10, but not a DOT1L binding-impaired mutant, rescues overall H3K79 methylation and reduces reprogramming efficiency. Transcriptomic analyses during reprogramming show that AF10 suppression results in downregulation of fibroblast-specific genes and accelerates the activation of pluripotency-associated genes.ConclusionsOur findings establish AF10 as a novel barrier to reprogramming by regulating H3K79 methylation and thereby sheds light on the mechanism by which cell identity is maintained in somatic cells.
Deepoxy-deoxynivalenol (DOM-1), a derivate of deoxynivalenol (DON), exhibits less toxicity on intestinal barrier function, Campylobacter jejuni colonization and translocation in broiler chickens
Authors: Ruhnau Daniel , Hess Claudia , Doupovec Barbara , Grenier Bertrand , Schatzmayr Dian , Hess Michael , Awad Wageha 
Published: July 2021

Abstract
Background
Intestinal epithelial cells are challenged by mycotoxins and many bacterial pathogens. It was previously shown that the mycotoxin deoxynivalenol (DON) as well as Campylobacter (C.) jejuni have a negative impact on gut integrity. Recently, it was demonstrated that DON increased the load of C. jejuni in the gut and inner organs. Based on this finding, it was hypothesized the DON metabolite (deepoxy-deoxynivalenol, DOM-1) should be able to reduce the negative effects of DON on colonization and translocation of C. jejuni in broilers, since it lacks the epoxide ring, which is responsible for the toxicity of DON.

Methods
A total of 180 broiler chickens were housed in floor pens on wood shavings with feed and water provided ad libitum. Birds were divided into six groups (n = 30 with 5 replicates/group): 1. Control, 2. DOM-1, 3. DON, 4. DOM-1 + C. jejuni, 5. DON + C. jejuni, 6. C. jejuni. At day 14, birds of groups 4, 5 and 6 were orally inoculated via feeding tube (gavage) with 1-ml of a PBS suspension containing 1 × 108 CFU of C. jejuni NCTC 12744. The performance parameters: body weight (BW), body weight gain (BWG), and feed intake of the birds were determined. At 7, 14, and 21 days post infection, samples from liver, spleen, duodenum, jejunum and cecum were aseptically collected and processed for bacteriological investigations. Finally, at each killing time point, segments of duodenum, jejunum and cecum were harvested and prepared for Ussing chamber studies to measure the paracellular mannitol fluxes.

Results
A significant decrease in body weight was observed for chickens receiving the DON diet with or without C. jejuni compared to the other groups. Furthermore, it was found that the co-exposure of birds to DON and C. jejuni resulted in a higher C. jejuni load not only in the gut but also in liver and spleen due to increased paracellular permeability of the duodenum, jejunum and cecum. On the contrary, DOM-1 supplementation in the feed improved the birds’ performance and led to a better feed conversion ratio throughout the trial. Furthermore, DOM-1 did not negatively affect gut permeability and decreased the C. jejuni counts in the intestine and internal organs.

Conclusion
Altogether, the presence of DOM-1 in the feed as a result of the enzymatic biotransformation of DON leads to a lower C. jejuni count in the intestine and better feed conversion ratio. Moreover, this study demonstrates that the detoxification product of DON, DOM-1, does not have negative effects on the gastrointestinal tract and reduces the Campylobacter burden in chickens and also the risk for human infection.
Resting-state EEG datasets of adolescents with mild, minimal, and moderate depression
Authors: Rachamanee Saravut , Wongupparaj Peera 
Published: July 2021

Abstract
Objectives
To measure depressive severity of 85 Thai adolescents by using the the Beck Depression Inventory-II and the Patient Health Questionnaire-9 and to record the resting-state EEG of these participants.

Data description
The current data note provides raw data of behavioral (i.e., group, BDI-II score, and PHQ-9 score) and electrophysiological parameters (i.e., absolute and relative EEG powers over 64 electrode sites) of 30, 27, and 28 participants with minimal, mild, and moderate depression, respectively. These data are especially useful to investigate the behavioral and electrophysiological markers of adolescents with subclinical depression. It can also be utilized in comparative analysis among age groups, and races.
PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutations
Authors: Cavicchi Catia , Oussalah Abderrahim , Falliano Silvia , Ferri Lorenzo , Gozzini Alessia , Gasperini Serena , Motta Serena , Rigoldi Miriam , Parenti Giancarlo , Tummolo Albina , Meli Concetta , Menni Francesca , Furlan Francesca , Daniotti Marta , Malvagia Sabrina , la Marca Giancarlo , Chery Céline , Morange Pierre-Emmanuel , Tregouet David , Donati Maria Alice , Guerrini Renzo , Guéant Jean-Louis , Morrone Amelia 
Published: July 2021

Abstract
Background
The role of epigenetics in inborn errors of metabolism (IEMs) is poorly investigated. Epigenetic changes can contribute to clinical heterogeneity of affected patients but could also be underestimated determining factors in the occurrence of IEMs. An epigenetic cause of IEMs has been recently described for the autosomal recessive methylmalonic aciduria and homocystinuria, cblC type (cblC disease), and it has been named epi-cblC. Epi-cblC has been reported in association with compound heterozygosity for a genetic variant and an epimutation at the MMACHC locus, which is secondary to a splicing variant (c.515-1G > T or c.515-2A > T) at the adjacent PRDX1 gene. Both these variants cause aberrant antisense transcription and cis-hypermethylation of the MMACHC gene promotor with subsequent silencing. Until now, only nine epi-cblC patients have been reported.

Methods
We report clinical/biochemical assessment, MMACHC/PRDX1 gene sequencing and genome-wide DNA methylation profiling in 11 cblC patients who had an inconclusive MMACHC gene testing. We also compare clinical phenotype of epi-cblC patients with that of canonical cblC patients.

Results
All patients turned out to have the epi-cblC disease. One patient had a bi-allelic MMACHC epimutation due to the homozygous PRDX1:c.515-1G > T variant transmitted by both parents. We found that the bi-allelic epimutation produces the complete silencing of MMACHC in the patient’s fibroblasts. The remaining ten patients had a mono-allelic MMACHC epimutation, due to the heterozygous PRDX1:c.515-1G > T, in association with a mono-allelic MMACHC genetic variant. Epi-cblC disease has accounted for about 13% of cblC cases diagnosed by newborn screening in the Tuscany and Umbria regions since November 2001. Comparative analysis showed that clinical phenotype of epi-cblC patients is similar to that of canonical cblC patients.

Conclusions
We provide evidence that epi-cblC is an underestimated cause of inborn errors of cobalamin metabolism and describe the first instance of epi-cblC due to a bi-allelic MMACHC epimutation. MMACHC epimutation/PRDX1 mutation analyses should be part of routine genetic testing for all patients presenting with a metabolic phenotype that combines methylmalonic aciduria and homocystinuria.
Nonadditivity in public and inhouse data: implications for drug design
Authors: Gogishvili D. , Nittinger E. , Margreitter C. , Tyrchan C. 
Published: July 2021

AbstractNumerous ligand-based drug discovery projects are based on structure-activity relationship (SAR) analysis, such as Free-Wilson (FW) or matched molecular pair (MMP) analysis. Intrinsically they assume linearity and additivity of substituent contributions. These techniques are challenged by nonadditivity (NA) in protein–ligand binding where the change of two functional groups in one molecule results in much higher or lower activity than expected from the respective single changes. Identifying nonlinear cases and possible underlying explanations is crucial for a drug design project since it might influence which lead to follow. By systematically analyzing all AstraZeneca (AZ) inhouse compound data and publicly available ChEMBL25 bioactivity data, we show significant NA events in almost every second assay among the inhouse and once in every third assay in public data sets. Furthermore, 9.4% of all compounds of the AZ database and 5.1% from public sources display significant additivity shifts indicating important SAR features or fundamental measurement errors. Using NA data in combination with machine learning showed that nonadditive data is challenging to predict and even the addition of nonadditive data into training did not result in an increase in predictivity. Overall, NA analysis should be applied on a regular basis in many areas of computational chemistry and can further improve rational drug design.
Twitter integration of chemistry software tools
Authors: Yoshikawa Naruki , Kubo Ryuichi , Yamamoto Kazuki Z. 
Published: July 2021

Abstract﻿Social media activity on a research article is considered to be an altmetric, a new measure to estimate research impact. Demonstrating software on Twitter is a powerful way to attract attention from a larger audience. Twitter integration of software can also lower the barriers to trying the tools and make it easier to save and share the output. We present three case studies of Twitter bots for cheminformatics: retrosynthetic analysis, 3D molecule viewer, and 2D chemical structure editor. These bots make software research more accessible to a broader range of people and facilitate the sharing of chemical knowledge, concepts, and ideas.
Tumor protein D52 is upregulated in oral squamous carcinoma cells under hypoxia in a hypoxia-inducible-factor-independent manner and is involved in cell death resistance
Authors: Abe Yuzo , Mukudai Yoshiki , Kurihara Mai , Houri Asami , Chikuda Junichiro , Yaso Atsutoshi , Kato Kosuke , Shimane Toshikazu , Shirota Tatsuo 
Published: July 2021

Abstract
Background
Tumor protein D52 (TPD52) reportedly plays an important role in the proliferation and metastasis of various cancer cells, including oral squamous cell carcinoma (OSCC) cells, and is expressed strongly at the center of the tumor, where the microenvironment is hypoxic. Thus, the present study investigated the roles of TPD52 in the survival and death of OSCC cells under hypoxia, and the relationship with hypoxia-inducible factor (HIF). We examined the expression of TPD52 in OSCC cells under hypoxic conditions and analyzed the effects of HIF on the modulation of TPD52 expression. Finally, the combinational effects of TPD52 knockdown and HIF inhibition were investigated both in vitro and in vivo.

Results
The mRNA and protein levels of TPD52 increased in OSCC cells under hypoxia. However, the increase was independent of HIF transcription. Importantly, the observation was due to upregulation of mRNA stability by binding of mRNA to T-cell intercellular antigen (TIA) 1 and TIA-related protein (TIAR). Simultaneous knockdown of TPD52 and inhibition of HIF significantly reduced cell viability. In addition, the in vivo tumor-xenograft experiments showed that TPD52 acts as an autophagy inhibitor caused by a decrease in p62.

Conclusions
This study showed that the expression of TPD52 increases in OSCC cells under hypoxia in a HIF-independent manner and plays an important role in the proliferation and survival of the cells in concordance with HIF, suggesting that novel cancer therapeutics might be led by TPD52 suppression.