bluuebunny/crossref_metadata_2025_split huggingface dataset:
Program evaluation of a pilot mobile developmental outreach clinic for autism spectrum disorder in Ontario
Authors: Kamali Mahdis , Sivapalan Shivajan , Kata Anna , Kim Nicole , Shanmugalingam Neshanth , Duku Eric , Zwaigenbaum Lonnie , Georgiades Stelios 
Published: March 2022

Abstract
Background
Autism spectrum disorder (ASD) is a neurodevelopmental disorder with increasing prevalence worldwide. Early identification of ASD through developmental screening is critical for early intervention and improved behavioural outcomes in children. However due to long wait times, delays in diagnosis continue to occur, particularly among minority populations who are faced with existing barriers in access to care. A novel Mobile Developmental Outreach Clinic (M-DOC) was implemented to deliver culturally sensitive screening and assessment practices to increase access to developmental health services, reduce wait times in diagnoses, and aid in equitable access to intervention programs among vulnerable populations in Ontario.

Methods
This study applied two evaluation frameworks (process and outcome evaluation) to determine whether the delivery model was implemented as intended, and if the program achieved its targeted goals. A mixed-methods design was undertaken to address the study objectives.

Results
Between September 2018–February 2020, M-DOC reached 227 families with developmental health concerns for their child, while successfully targeting the intended population and achieving its goals. The mean age of the child-in-need at intake was 31.6 months (SD 9.9), and 70% of the sample were male. The program’s success was attributed to the use of cultural liaisons to break cultural and linguistic barriers, the creation of multiple points of access into the diagnosis pathway, and delivery of educational workshops in local communities to raise awareness and knowledge of autism spectrum disorder.

Conclusions
The findings underscore the need for community-based intervention programs that focus on cultural barriers to accessing health services. The model of delivery of the M-DOC programs highlights the opportunity for other programs to adopt a similar mobile outreach clinic approach as a means to increase access to services, particularly in targeting hard-to-reach and vulnerable populations.
Cumulative live birth rates after IVF/ICSI cycles with sperm prepared by density gradient centrifugation vs. swim-up: a retrospective study using a propensity score-matching analysis
Authors: Rao Meng , Tang Li , Wang Longda , Chen Mengxiang , Yan Gaofeng , Zhao Shuhua 
Published: March 2022

AbstractBackgroundDensity gradient centrifugation (DGC) and swim-up (SU) are the two most widely used sperm preparation methods for in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI). However, existing comparisons of IVF/ICSI outcomes following these sperm preparation methods are insufficient and controversial.MethodsThis retrospective study included all first autologous IVF and ICSI cycles performed between March 1, 2016, and December 31, 2020 in a single university-based center. A total of 3608 cycles were matched between DGC and SU using propensity score (PS) matching for potential confounding factors at a ratio of 1:1. The primary outcome was the cumulative live birth rate (cLBR) per aspiration.ResultsPS matching provided 719 cycles after DGC and 719 cycles after SU. After adjusting for confounders, the recovery rate, progressive motility rate after sperm preparation, fertilization rate, good-quality embryo rate, and blastocyst formation rate were similar between the DGC and SU groups. The cLBR (odds ratio [OR] = 1.143, 95% confidence interval [CI]: 0.893–1.461) and LBR per transfer (OR = 1.082, 95% CI: 0.896–1.307) were also not significantly different between the groups. Furthermore, no significant differences were found in all of the laboratory and clinical outcomes following conventional IVF or ICSI cycles between the two groups. However, a significantly higher fertilization rate (β = 0.074, 95% CI: 0.008–0.140) was observed when using poor-quality sperm in the DGC group than in the SU group.ConclusionsSperm preparation using DGC and SU separately resulted in similar IVF/ICSI outcomes. Further studies are warranted to compare the effects of these methods on IVF/ICSI outcomes when using sperm from subgroups of different quality.
Socioemotional development in infants of pregnant women during the COVID-19 pandemic: the role of prenatal and postnatal maternal distress
Authors: Duguay Gabrielle , Garon-Bissonnette Julia , Lemieux Roxanne , Dubois-Comtois Karine , Mayrand Kristel , Berthelot Nicolas 
Published: March 2022

Abstract
Background
An upsurge in psychological distress was documented in pregnant women during the COVID-19 pandemic. We investigated with a longitudinal design whether prenatal and postnatal maternal distress during the COVID-19 pandemic was associated with lower infant socioemotional development.

Methods
Pregnant women (N = 468, Mage = 30,00, 97.6% White) were recruited during the first COVID-19 mandatory lockdown in Quebec, Canada, from April 2nd to April 13th 2020 and were re-contacted at two months postpartum to complete self-reported measures of general (i.e. not specifically related to the COVID-19 pandemic) anxio-depressive symptoms and infant development. Structural equation modeling analyses were performed using maximum likelihood parameter estimation.

Results
Higher maternal prenatal distress significantly contributed to poorer infant socioemotional development. A mediation model showed that postnatal distress significantly mediated the association between prenatal distress and infant socioemotional development, whereas the direct effect of prenatal distress was no longer significant. Prenatal and postnatal maternal distress accounted for 13.7% of the variance in infant socioemotional development.

Conclusion
Our results call for special means of clinical surveillance in mothers and for innovative (online) interventions aiming to support maternal mental health during pregnancy and after delivery.
Characterization of a rare mosaic X-ring chromosome in a patient with Turner syndrome
Authors: Luo Hunjin , Ni Liu , Yang Yi-Qiong , Zhang Xiao-Min , Huang Hongping , Tan Sainan , Ling Chen , Liang Li , Wang Ling , Dan Tang , Zhou Shu-Xiang , Yang Chunliu 
Published: March 2022

Abstract
Background
Ring chromosomes can be formed by terminal breaks of two arms of a chromosome and their rejoining, leading to a loss of genetic material. They may also be formed by telomere-telomere fusions with no deletion, resulting in the formation of a complete ring. Mosaic X-ring chromosomes are extremely rare and have highly variable phenotypes. Here, we report a case with a mosaic X-ring chromosome in a patient with Turner syndrome, and we illustrate the unreported complicated mechanism using chromosome analysis and fluorescence in situ hybridization (FISH).

Case presentation
A 10-year-old girl of short stature presenting Turner syndrome was admitted to our hospital. The patient’s clinical characteristics were subsequently documented. Genetic analysis showed a karyotype of mostly 45,X[140]/46,X,r(X)[60]. The X ring chromosome was cytogenetically characterized as 45,X/46,X,r(X)(p22.32q21.1), with a length of approximately 74 Mb.

Conclusions
Taken together, we report a rare case with a mosaic X ring chromosome in Turner syndrome and we believe this case expands our collective knowledge of mosaic structural chromosomal disorders and provides new insight into clinical management and genetic counseling for Turner syndrome.
Hif1α-dependent hypoxia signaling contributes to the survival of deep-layer neurons and cortex formation in a mouse model
Authors: Sakai Daisuke , Sugawara Takeru , Kurokawa Tomonori , Murakami Yuki , Tomosugi Mitsuhiro , Masuta Hiroko , Sakata-Haga Hiromi , Hatta Toshihisa , Shoji Hiroki 
Published: March 2022

AbstractHypoxia-inducible factor 1 α (Hif1α) plays a crucial role in brain development. To study the function of Hif1α in early brain development, we generated neuroepithelial cell-specific Hif1α-knockout mice. Hif1α-knockout mice died soon after birth; these mice exhibited an abnormal head shape, indicating the presence of brain defects. Morphological analysis revealed that Hif1α ablation reduced the overall size of the brain, especially affecting the telencephalon. Neuronal apoptosis predominantly occurred in deep-layer neurons, consequently the alignment of cortical layers was severely disorganized in Hif1α knockout mice. Furthermore, we demonstrated that Vegf signaling contributes to the survival of deep-layer neurons as a downstream effector of Hif1α-dependent hypoxia signaling. Taken together, our findings demonstrate that Hif1α plays a critical role in the early stages of telencephalon development.
Acknowledging extraordinary women in the history of medical entomology
Authors: Troyo Adriana , González-Sequeira María Paula , Aguirre-Salazar Mónica , Cambronero-Ortíz Ian , Chaves-González Luis Enrique , Mejías-Alpízar María José , Alvarado-Molina Kendall , Calderón-Arguedas Ólger , Rojas-Araya Diana 
Published: March 2022

AbstractThroughout history, women have been actively involved in the advancement of science, while struggling to overcome challenges to participate and a lack of recognition. Prior to 1950, most women were not included in the lists of “classical” descriptions of the iconic scientific figures nor included in the most relevant historical accounts. Since the second half of the twentieth century, great efforts have been made to recognize the contributions of women to the advancement of science, especially since formal scientific careers have been dominated by men, with limited (or no) access to women. Despite these challenging social, political and cultural contexts, many women have succeeded in making significant advancements, and their contributions are now being acknowledged. Such efforts have led to the publication of recent reviews and compilations on outstanding women in biological sciences. The field of medical entomology is inherently interdisciplinary, focusing on insects and other arthropods that affect human health, with input primarily from the biological and medical sciences and a strong public health perspective. Several reviews and book chapters describing the history of medical entomology have been published over the decades, but few women are mentioned in these publications, even though many women have contributed to this field. Much of the information on these women is currently scattered throughout the published literature and historical records on a wide range of topics, including activism, virology, vector control and even acarology. Considering that there is no single available compilation of women contributors in the history of medical entomology, this review aims to provide a list of 22 women and their contributions to this field. The list includes women from diverse backgrounds, born in the late 1800s and before 1950, who directly impacted medical entomology in various ways and in different regions of the world. This compilation is far from exhaustive, but it aims to identify role models and examples of extraordinary women to motivate the evolving future of this field.Graphical Abstract
Numerical resolution of the wave equation using the spectral method
Authors: Abdelwahed Mohamed , Chorfi Nejmeddine 
Published: March 2022

AbstractWe present a new procedure for the numerical study of the wave equation. We use the spectral discretization method associated with the Euler scheme for spatial and temporal discretization. A detailed numerical analysis leads to an a priori error estimate. We confirm the high precision of the method presented by a numerical study.
An investigation into the livelihoods strategies of informal women traders in Zimbabwe
Authors: Takaza Stella Chipo , Chitereka Chipo 
Published: March 2022

AbstractThis article investigated varieties of livelihoods strategies employed by some informal women traders doing business at flea markets in the Harare Business Districts of the Harare Province. The study was informed by the Sustainable Livelihood Approach proffered by the Swedish International Development Cooperation Agency Division (SIDA 2001) for Policy and Socio-Economic Analysis. A quantitative and qualitative research design was developed and data was gathered through questionnaires, in-depth interviews, focus group discussions and direct observations during transect walks. The objectives of the study were to; identify micro-credit schemes used by the informal women traders doing business at flea markets, explore the livelihoods of microcredit schemes as pathways to poverty eradication and finally determine interventions and sustainable strategies that could be used for the informal women traders. The study discovered that women informal traders engaged in diverse activities for sustainable livelihoods strategies that eradicate poverty. The bulk of informal women traders face staid livelihoods challenges, resulting in them living in poverty. The study thus calls on Government and financing institutions to finance them for local empowerment, gain access and control of available livelihoods resources in a meaningful way. A range of policy interventions and sustainable strategies could be developed that enable informal women traders to eradicate poverty in Zimbabwe,
Rasch analysis of consumer attitudes towards the mountain product label
Authors: Bassi Ivana , Carzedda Matteo , Gori Enrico , Iseppi Luca 
Published: March 2022

AbstractIn 2012 the European Union adopted the Regulation No. 1151/2012, which, among others, defines the legal framework to protect the originality and authenticity of mountain foods through the “Mountain Product” quality scheme. The research aims to analyze people’s attitudes towards mountain foods and the EU Mountain Product label, as well as their area of origin, i.e., the mountains. For the purpose of this research, the Rasch model was used since its properties make it suitable to identify the measure of interest. The results allow us to identify potential leverage to plan promotional activities in order to enhance the value of mountain food, raise awareness on the EU label, thus improving the sustainability of mountain farms and regions.
RNA sequencing identifies novel regulated IRE1-dependent decay targets that affect multiple myeloma survival and proliferation
Authors: Quwaider Dalia , Corchete Luis A. , Martín-Izquierdo Marta , Hernández-Sánchez Jesús M. , Rojas Elizabeta A. , Cardona-Benavides Ignacio J. , García-Sanz Ramón , Herrero Ana B. , Gutiérrez Norma C. 
Published: March 2022

Abstract
Background
IRE1 is an unfolded protein response (UPR) sensor with kinase and endonuclease activity. It plays a central role in the endoplasmic reticulum (ER) stress response through unconventional splicing of XBP1 mRNA and regulated IRE1-dependent decay (RIDD). Multiple myeloma (MM) cells are known to exhibit an elevated level of baseline ER stress due to immunoglobulin production, however RIDD activity has not been well studied in this disease. In this study, we aimed to investigate the potential of RNA-sequencing in the identification of novel RIDD targets in MM cells and to analyze the role of these targets in MM cells.

Methods
In vitro IRE1-cleavage assay was combined with RNA sequencing. The expression level of RIDD targets in MM cell lines was measured by real-time RT-PCR and Western blot.

Results
Bioinformatic analysis revealed hundreds of putative IRE1 substrates in the in vitro assay, 32 of which were chosen for further validation. Looking into the secondary structure of IRE1 substrates, we found that the consensus sequences of IRF4, PRDM1, IKZF1, KLF13, NOTCH1, ATR, DICER, RICTOR, CDK12, FAM168B, and CENPF mRNAs were accompanied by a stem-loop structure essential for IRE1-mediated cleavage. In fact, we show that mRNA and protein levels corresponding to these targets were attenuated in an IRE1-dependent manner by treatment with ER-stress-inducing agents. In addition, a synergistic effect between IMiDs and ER-stress inducers was found.

Conclusion
This study, using RNA sequencing, shows that IRE1 RNase has a broad range of mRNA substrates in myeloma cells and demonstrates for the first time that IRE1 is a key regulator of several proteins of importance in MM survival and proliferation.
Variants in genes related to development of the urinary system are associated with Mayer–Rokitansky–Küster–Hauser syndrome
Authors: Chu Chunfang , Li Lin , Li Shenghui , Zhou Qi , Zheng Ping , Zhang Yu-Di , Duan Ai-hong , Lu Dan , Wu Yu-Mei 
Published: March 2022

AbstractMayer–Rokitansky–Küster–Hauser (MRKH) syndrome, also known as Müllerian agenesis, is characterized by uterovaginal aplasia in an otherwise phenotypically normal female with a normal 46,XX karyotype. Previous studies have associated sequence variants of PAX8, TBX6, GEN1, WNT4, WNT9B, BMP4, BMP7, HOXA10, EMX2, LHX1, GREB1L, LAMC1, and other genes with MRKH syndrome. The purpose of this study was to identify the novel genetic causes of MRKH syndrome. Ten patients with MRKH syndrome were recruited at Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing, China. Whole-exome sequencing was performed for each patient. Sanger sequencing confirmed the potential causative genetic variants in each patient. In silico analysis and American College of Medical Genetics and Genomics (ACMG) guidelines helped to classify the pathogenicity of each variant. The Robetta online protein structure prediction tool determined whether the variants affected protein structures. Eleven variants were identified in 90% (9/10) of the patients and were considered a molecular genetic diagnosis of MRKH syndrome. These 11 variants were related to nine genes: TBC1D1, KMT2D, HOXD3, DLG5, GLI3, HIRA, GATA3, LIFR, and CLIP1. Sequence variants of TBC1D1 were found in two unrelated patients. All variants were heterozygous. These changes included one frameshift variant, one stop-codon variant, and nine missense variants. All identified variants were absent or rare in gnomAD East Asian populations. Two of the 11 variants (18.2%) were classified as pathogenic according to the ACMG guidelines, and the remaining nine (81.8%) were classified as variants of uncertain significance. Robetta online protein structure prediction analysis suggested that missense variants in TBC1D1 (p.E357Q), HOXD3 (p.P192R), and GLI3 (p.L299V) proteins caused significant structural changes compared to those in wild-type proteins, which in turn may lead to changes in protein function. This study identified many novel genes, especially TBC1D1, related to the pathogenesis of MRKH syndrome. The identification of these variants provides new insights into the etiology of MRKH syndrome and a new molecular genetic reference for the development of the reproductive tract.
African wild dog movements show contrasting responses to long and short term risk of encountering lions: analysis using dynamic Brownian bridge movement models
Authors: Goodheart Ben , Creel Scott , Vinks Milan A. , Banda Kambwiri , Reyes de Merkle Johnathan , Kusler Anna , Dart Chase , Banda Kachama , Becker Matthew S. , Indala Peter , Simukonda Chuma , Kaluka Adrian 
Published: March 2022

AbstractBackgroundPrey depletion is a threat to the world’s large carnivores, and is likely to affect subordinate competitors within the large carnivore guild disproportionately. African lions limit African wild dog populations through interference competition and intraguild predation. When lion density is reduced as a result of prey depletion, wild dogs are not competitively released, and their population density remains low. Research examining distributions has demonstrated spatial avoidance of lions by wild dogs, but the effects of lions on patterns of movement have not been tested. Movement is one of the most energetically costly activities for many species and is particularly costly for cursorial hunters like wild dogs. Therefore, testing how top-down, bottom-up, and anthropogenic variables affect movement patterns can provide insight into mechanisms that limit wild dogs (and other subordinate competitors) in resource-depleted ecosystems.MethodsWe measured movement rates using the motion variance from dynamic Brownian Bridge Movement Models (dBBMMs) fit to data from GPS-collared wild dogs, then used a generalized linear model to test for effects on movement of predation risk from lions, predictors of prey density, and anthropogenic and seasonal variables.ResultsWild dogs proactively reduced movement in areas with high lion density, but reactively increased movement when lions were immediately nearby. Predictors of prey density had consistently weaker effects on movement than lions did, but movements were reduced in the wet season and when dependent offspring were present.ConclusionWild dogs alter their patterns of movement in response to lions in ways that are likely to have important energetic consequences. Our results support the recent suggestion that competitive limitation of wild dogs by lions remains strong in ecosystems where lion and wild dog densities are both low as a result of anthropogenic prey depletion. Our results reinforce an emerging pattern that movements often show contrasting responses to long-term and short-term variation in predation risk.
Droplet digital PCR-based analyses for robust, rapid, and sensitive molecular diagnostics of gliomas
Authors: Wolter Marietta , Felsberg Jörg , Malzkorn Bastian , Kaulich Kerstin , Reifenberger Guido 
Published: March 2022

AbstractClassification of gliomas involves the combination of histological features with molecular biomarkers to establish an integrated histomolecular diagnosis. Here, we report on the application and validation of a set of molecular assays for glioma diagnostics based on digital PCR technology using the QX200™ Droplet Digital™ PCR (ddPCR) system. The investigated ddPCR-based assays enable the detection of diagnostically relevant glioma-associated mutations in the IDH1, IDH2, H3-3A, BRAF, and PRKCA genes, as well as in the TERT promoter. In addition, ddPCR-based assays assessing diagnostically relevant copy number alterations were studied, including 1p/19q codeletion, gain of chromosome 7 and loss of chromosome 10 (+ 7/-10), EGFR amplification, duplication of the BRAF locus, and CDKN2A homozygous deletion. Results obtained by ddPCR were validated by other methods, including immunohistochemistry, Sanger sequencing, pyrosequencing, microsatellite analyses for loss of heterozygosity, as well as real-time PCR- or microarray-based copy number assays. Particular strengths of the ddPCR approach are (1) its high analytical sensitivity allowing for reliable detection of mutations even with low mutant allele frequencies, (2) its quantitative determination of mutant allele frequencies and copy number changes, and (3) its rapid generation of results within a single day. Thus, in line with other recent studies our findings support ddPCR analysis as a valuable approach for molecular glioma diagnostics in a fast, quantitative and highly sensitive manner.