bluuebunny/crossref_metadata_2025_split huggingface dataset:
Adult Children's Education and Older Parents' Chronic Illnesses in Aging China
Authors: Liu Yafei , Ma Yuanyuan , Smith James P. 
Published: February 2022

Abstract
Although intergenerational transmission from parents to children has been widely studied, less is known about human capital spillover from children to parents. Utilizing nationally representative data on both doctor diagnosis and biomarkers, as well as exploiting variations in the implementation of China's Compulsory Education Law, we examine the effects of adult children's education on the prevalence of chronic cardiovascular illnesses among older parents in China and explore potential mechanisms. Instrumental variable estimates indicate that additional years of schooling among adult children decrease the prevalence of hypertension among older parents, whereas no evidence indicates a significant impact on the prevalence of diabetes among the same group. Sons and daughters differentially impact their mothers and fathers. Compared with fathers, mothers benefit more from adult children's education. Although no significant differences are observed in the effects of sons' and daughters' education in urban China, sons' education is more beneficial for parents' health in rural China. Further analyses show that financial support and health support (e.g., diagnosis and management of chronic illnesses and maintenance of health behaviors) are critical pathways for older parents to benefit from their adult children's education.
Development of Machine Learning–Based Models to Predict Treatment Response to Spinal Cord Stimulation
Authors: Hadanny Amir , Harland Tessa , Khazen Olga , DiMarzio Marisa , Marchese Anthony , Telkes Ilknur , Sukul Vishad , Pilitsis Julie G. 
Published: February 2022

BACKGROUND:
Despite spinal cord stimulation's (SCS) proven efficacy, failure rates are high with no clear understanding of which patients benefit long term. Currently, patient selection for SCS is based on the subjective experience of the implanting physician.

OBJECTIVE:
To develop machine learning (ML)–based predictive models of long-term SCS response.

METHODS:
A combined unsupervised (clustering) and supervised (classification) ML technique was applied on a prospectively collected cohort of 151 patients, which included 31 features. Clusters identified using unsupervised K-means clustering were fitted with individualized predictive models of logistic regression, random forest, and XGBoost.

RESULTS:
Two distinct clusters were found, and patients in the cohorts significantly differed in age, duration of chronic pain, preoperative numeric rating scale, and preoperative pain catastrophizing scale scores. Using the 10 most influential features, logistic regression predictive models with a nested cross-validation demonstrated the highest overall performance with the area under the curve of 0.757 and 0.708 for each respective cluster.

CONCLUSION:
This combined unsupervised–supervised learning approach yielded high predictive performance, suggesting that advanced ML-derived approaches have potential to be used as a functional clinical tool to improve long-term SCS outcomes. Further studies are needed for optimization and external validation of these models.
Coil Embolization of Unruptured Cerebral Aneurysms Using Stents in Small Arteries Less Than 2 mm in Diameter
Authors: Ozaki Tomohiko , Fujinaka Toshiyuki , Kidani Tomoki , Nishimoto Keisuke , Yamazaki Hiroki , Sawada Haruna , Taki Kowashi , Kanemura Yonehiro , Nakajima Shin 
Published: February 2022

BACKGROUND:
Data regarding the safety and effectiveness of stent placement in small vessels (<2 mm in diameter) for treating wide-necked cerebral aneurysms are limited.

OBJECTIVE:
To report our experience regarding coil embolization of unruptured cerebral aneurysms using stents (specifically the Neuroform Atlas) in small arteries <2 mm in diameter.

METHODS:
Patients with unruptured cerebral aneurysms treated with stent-assisted coil embolization between March 2017 and March 2021 in our hospital were included.

RESULTS:
Of the 137 cerebral aneurysms included in this study, 49 required stent placement and 48 were treated using the Neuroform Atlas in the small vessels measuring <2 mm in diameter (small vessel group [SVG]). In the SVG, 43 aneurysms (87.8%) demonstrated complete occlusion. Regarding complications, 2 (4.1%) patients had in-stent thrombosis during procedures and 5 (10.2%) experienced symptomatic thromboembolic complications, but only 2 (4.1%) had worsening of the modified Rankin scale ≥1 at 90 days after embolization. Patients with middle cerebral artery aneurysms had a higher risk of thrombotic events (5/18 patients, 27.8%), such as symptomatic thromboembolic complications or intraprocedural in-stent thrombus than those with other aneurysms (1/31 patients, 3.2%), in the SVG (P = .0167).

CONCLUSION:
Stent-assisted coil embolization for unruptured cerebral aneurysms using stents, especially the Neuroform Atlas, in small arteries <2 mm in diameter is effective and feasible, but careful perioperative attention should be given to thrombotic events during the embolization of middle cerebral artery aneurysms.
Notch signaling enhances bone regeneration in the zebrafish mandible
Authors: Kraus Jessica M. , Giovannone Dion , Rydzik Renata , Balsbaugh Jeremy L. , Moss Isaac L. , Schwedler Jennifer L. , Bertrand Julien Y. , Traver David , Hankenson Kurt D. , Crump J. Gage , Youngstrom Daniel W. 
Published: February 2022

ABSTRACT
Loss or damage to the mandible caused by trauma, treatment of oral malignancies, and other diseases is treated using bone-grafting techniques that suffer from numerous shortcomings and contraindications. Zebrafish naturally heal large injuries to mandibular bone, offering an opportunity to understand how to boost intrinsic healing potential. Using a novel her6:mCherry Notch reporter, we show that canonical Notch signaling is induced during the initial stages of cartilage callus formation in both mesenchymal cells and chondrocytes following surgical mandibulectomy. We also show that modulation of Notch signaling during the initial post-operative period results in lasting changes to regenerate bone quantity one month later. Pharmacological inhibition of Notch signaling reduces the size of the cartilage callus and delays its conversion into bone, resulting in non-union. Conversely, conditional transgenic activation of Notch signaling accelerates conversion of the cartilage callus into bone, improving bone healing. Given the conserved functions of this pathway in bone repair across vertebrates, we propose that targeted activation of Notch signaling during the early phases of bone healing in mammals may both augment the size of the initial callus and boost its ossification into reparative bone.
Derivation of extra-embryonic and intra-embryonic macrophage lineages from human pluripotent stem cells
Authors: Bredemeyer Andrea L. , Amrute Junedh M. , Koenig Andrew L. , Idol Rachel A. , He Li , Luff Stephanie A. , Dege Carissa , Leid Jamison M. , Schilling Joel D. , Hinson J. Travis , Dinauer Mary C. , Sturgeon Christopher M. , Lavine Kory J. 
Published: February 2022

ABSTRACT
Tissue-resident macrophages are increasingly recognized as important determinants of organ homeostasis, tissue repair, remodeling and regeneration. Although the ontogeny and function of tissue-resident macrophages has been identified as distinct from postnatal hematopoiesis, the inability to specify, in vitro, similar populations that recapitulate these developmental waves has limited our ability to study their function and potential for regenerative applications. We took advantage of the concept that tissue-resident macrophages and monocyte-derived macrophages originate from distinct extra-embryonic and definitive hematopoietic lineages to devise a system to generate pure cultures of macrophages that resemble tissue-resident or monocyte-derived subsets. We demonstrate that human pluripotent stem cell-derived extra-embryonic-like and intra-embryonic-like hematopoietic progenitors differentiate into morphologically, transcriptionally and functionally distinct macrophage populations. Single-cell RNA sequencing of developing and mature cultures uncovered distinct developmental trajectories and gene expression programs of macrophages derived from extra-embryonic-like and intra-embryonic-like hematopoietic progenitors. These findings establish a resource for the generation of human tissue resident-like macrophages to study their specification and function under defined conditions and to explore their potential use in tissue engineering and regenerative medicine applications.
The role of SPAG1 in the assembly of axonemal dyneins in human airway epithelia
Authors: Smith Amanda J. , Bustamante-Marin Ximena M. , Yin Weining , Sears Patrick R. , Herring Laura E. , Dicheva Nedyalka N. , López-Giráldez Francesc , Mane Shrikant , Tarran Robert , Leigh Margaret W. , Knowles Michael R. , Zariwala Maimoona A. , Ostrowski Lawrence E. 
Published: February 2022

ABSTRACT
Mutations in SPAG1, a dynein axonemal assembly factor (DNAAF) that facilitates the assembly of dynein arms in the cytoplasm before their transport into the cilium, result in primary ciliary dyskinesia (PCD), a genetically heterogenous disorder characterized by chronic oto-sino-pulmonary disease, infertility and laterality defects. To further elucidate the role of SPAG1 in dynein assembly, we examined its expression, interactions and ciliary defects in control and PCD human airway epithelia. Immunoprecipitations showed that SPAG1 interacts with multiple DNAAFs, dynein chains and canonical components of the R2TP complex. Protein levels of dynein heavy chains (DHCs) and interactions between DHCs and dynein intermediate chains (DICs) were reduced in SPAG1 mutants. We also identified a previously uncharacterized 60 kDa SPAG1 isoform, through examination of PCD subjects with an atypical ultrastructural defect for SPAG1 variants, that can partially compensate for the absence of full-length SPAG1 to assemble a reduced number of outer dynein arms. In summary, our data show that SPAG1 is necessary for axonemal dynein arm assembly by scaffolding R2TP-like complexes composed of several DNAAFs that facilitate the folding and/or binding of the DHCs to the DIC complex.
Shaping centromeres to resist mitotic spindle forces
Authors: Lawrimore Josh , Bloom Kerry 
Published: February 2022

ABSTRACT
The centromere serves as the binding site for the kinetochore and is essential for the faithful segregation of chromosomes throughout cell division. The point centromere in yeast is encoded by a ∼115 bp specific DNA sequence, whereas regional centromeres range from 6–10 kbp in fission yeast to 5–10 Mbp in humans. Understanding the physical structure of centromere chromatin (pericentromere in yeast), defined as the chromatin between sister kinetochores, will provide fundamental insights into how centromere DNA is woven into a stiff spring that is able to resist microtubule pulling forces during mitosis. One hallmark of the pericentromere is the enrichment of the structural maintenance of chromosome (SMC) proteins cohesin and condensin. Based on studies from population approaches (ChIP-seq and Hi-C) and experimentally obtained images of fluorescent probes of pericentromeric structure, as well as quantitative comparisons between simulations and experimental results, we suggest a mechanism for building tension between sister kinetochores. We propose that the centromere is a chromatin bottlebrush that is organized by the loop-extruding proteins condensin and cohesin. The bottlebrush arrangement provides a biophysical means to transform pericentromeric chromatin into a spring due to the steric repulsion between radial loops. We argue that the bottlebrush is an organizing principle for chromosome organization that has emerged from multiple approaches in the field.
Metabolomic and transcriptomic responses of ticks during recovery from cold shock reveal mechanisms of survival
Authors: Rosendale Andrew J. , Leonard Ryan K. , Patterson Isaac W. , Arya Thomas , Uhran Melissa R. , Benoit Joshua B. 
Published: February 2022

ABSTRACT
Ticks are blood-feeding ectoparasites but spend most of their life off-host where they may have to tolerate low winter temperatures. Rapid cold hardening (RCH) is a process commonly used by arthropods, including ticks, to improve survival of acute low temperature exposure. However, little is known about the underlying mechanisms in ticks associated with RCH, cold shock and recovery from these stresses. In the present study, we investigated the extent to which RCH influences gene expression and metabolism during recovery from cold stress in Dermacentor variabilis, the American dog tick, using a combined transcriptomics and metabolomics approach. Following recovery from RCH, 1860 genes were differentially expressed in ticks, whereas only 99 genes responded during recovery to direct cold shock. Recovery from RCH resulted in an upregulation of various pathways associated with ion binding, transport, metabolism and cellular structures seen in the response of other arthropods to cold. The accumulation of various metabolites, including several amino acids and betaine, corresponded to transcriptional shifts in the pathways associated with these molecules, suggesting congruent metabolome and transcriptome changes. Ticks, D. variabilis and Amblyomma maculatum, receiving exogenous betaine and valine demonstrated enhanced cold tolerance, suggesting cryoprotective effects of these metabolites. Overall, many of the responses during recovery from cold shock in ticks were similar to those observed in other arthropods, but several adjustments may be distinct from the responses in other currently examined taxa.
Acetabular retroversion is prevalent and proportional to the severity of slipped upper femoral epiphysis
Authors: Buddhdev Pranai , Vallim Frederico , Slattery David , Balakumar Jitendra 
Published: February 2022

AimsSlipped upper femoral epiphysis (SUFE) has well documented biochemical and mechanical risk factors. Femoral and acetabular morphologies seem to be equally important. Acetabular retroversion has a low prevalence in asymptomatic adults. Hips with dysplasia, osteoarthritis, and Perthes’ disease, however, have higher rates, ranging from 18% to 48%. The aim of our study was to assess the prevalence of acetabular retroversion in patients presenting with SUFE using both validated radiological signs and tomographical measurements.MethodsA retrospective review of all SUFE surgical cases presenting to the Royal Children’s Hospital, Melbourne, Australia, from 2012 to 2019 were evaluated. Preoperative plain radiographs were assessed for slip angle, validated radiological signs of retroversion, and standardized postoperative CT scans were used to assess cranial and mid-acetabular version.ResultsIn all, 116 SUFEs presented in 107 patients who underwent surgical intervention; 47 (52%) were male, with a mean age of 12.7 years (7.5 to 16.6). Complete radiological data was available for 91 patients (99 hips) with adequate axial CT imaging of both hips. Overall, 82 patients (82%) underwent pinning in situ (PIS), with subcapital realignment surgery (SRS) performed in 17 patients (18%) (slip angles > 75°). Contralateral prophylactic PIS was performed in 72 patients (87%). On the slip side, 62 patients (68%) had one or more radiological sign of retroversion. Tomographical acetabular retroversion was more pronounced cranially than caudally of the acetabulum on both the affected side and the contralateral side (p < 0.001) as expected in the normal population. Increasing severity of the slip was found to be directly proportional to the degree of reduction in cranial and central acetabular version (p < 0.05) in the SUFE hips.ConclusionAcetabular retroversion is more prevalent in patients with SUFE than previously reported, and have been shown be correlated to the severity of the slip presentation. The presence of radiological signs of acetabular retroversion could be used to justify prophylactic contralateral pinning. Cite this article: Bone Jt Open 2022;3(2):158–164.
How does intraoperative fracture malalignment affect postoperative function and bone healing following distal femoral fracture?
Authors: Kuwahara Yutaro , Takegami Yasuhiko , Tokutake Katsuhiro , Yamada Yotaro , Komaki Kentaro , Ichikawa Tsunenobu , Imagama Shiro 
Published: February 2022

Aims Postoperative malalignment of the femur is one of the main complications in distal femur fractures. Few papers have investigated the impact of intraoperative malalignment on postoperative function and bone healing outcomes. The aim of this study was to investigate how intraoperative fracture malalignment affects postoperative bone healing and functional outcomes. Methods In total, 140 patients were retrospectively identified from data obtained from a database of hospitals participating in a trauma research group. We divided them into two groups according to coronal plane malalignment of more than 5°: 108 had satisfactory fracture alignment (< 5°, group S), and 32 had unsatisfactory alignment (> 5°, group U). Patient characteristics and injury-related factors were recorded. We compared the rates of nonunion, implant failure, and reoperation as healing outcomes and Knee Society Score (KSS) at three, six, and 12 months as functional outcomes. We also performed a sub-analysis to assess the effect of fracture malalignment by plates and nails on postoperative outcomes. Results The rates of nonunion and reoperation in group U were worse than those in group S (25.0% vs 14.3%; 15.6% vs 5.6%), but the differences were not significant (p = 0.180 and p = 0.126, respectively). Mean KSS in group U at all follow-up periods was significantly worse that in group S (75.7 (SD 18.8) vs 86.0 (SD 8.7); p < 0.001; 78.9 (SD 17.2) vs 89.1 (SD 9.8); p < 0.001; 85.0 (SD 11.9) vs 91.1 (SD 7.2); p = 0.002, respectively). In the sub-analysis of plates, mean KSS was significantly worse in group U at three and six months. In the sub-analysis of nails, the rate of reoperation was significantly higher in group U (28.6% vs 5.8%; p = 0.025), and mean KSS at six and 12 months was significantly worse in Group U. Conclusion To obtain good postoperative functional results, intraoperative alignment of the coronal plane should be accurately restored to less than 5°. Cite this article: Bone Jt Open 2022;3(2):165–172.
Post-High School Transition Outcomes for Young Adults With Down Syndrome
Authors: Loveall Susan J. , Channell Marie Moore , Burke Meghan M. , Rodgers Derek B. 
Published: February 2022

Abstract
There is limited available research on the post-high school outcomes of young adults with Down syndrome (DS). The purpose of this study, therefore, was to characterize employment, community-based living, and community engagement outcomes and their correlates among young adults with DS who recently transitioned out of high school. Caregivers (n = 100) of young adults with DS who exited high school within the past 5 years completed an online survey. Approximately half of the individuals with DS were working in some capacity; almost all were living with caregivers. Individuals with DS were engaging in a variety of community activities each week. Adaptive functioning was related to both employment and community engagement. Parent involvement in transition planning was also related to community engagement.
Randomized Behavioral Sleep Clinical Trial to Improve Outcomes in Children With Down Syndrome
Authors: Esbensen Anna J. , Hoffman Emily K. , Beebe Dean W. , Byars Kelly , Carle Adam C. , Epstein Jeffery N. , Johnson Cynthia 
Published: February 2022

Abstract
Parents of 30 school-age children with Down syndrome participated in a small-scale randomized clinical trial of a behavioral sleep treatment designed specifically for children with Down syndrome. The aim was to improve child sleep, child daytime behavior problems, caregiver sleep, and caregiver stress. The intervention spanned 5–8 weeks, and assessments occurred pre-treatment, immediately post-treatment, and three months post-treatment using a double-blinded design. Both the active treatment and a treatment-as-usual attention-controlled comparison group showed improvements in actigraphy and parent-report measures of child sleep, parent-reported child internalizing behaviors, and actigraphy measures of parent-sleep. The behavioral sleep treatment did not yield significantly different outcomes than a treatment-as-usual approach supplemented with non-sleep-specific behavioral or education sessions. Possible interpretations of study findings are discussed.
Fragile X Syndrome: Supportive Treatment, Unmet Needs, and Paths to Novel Interventions and Disease-Targeted Therapies
Authors: Berry-Kravis Elizabeth 
Published: February 2022

Abstract
Fragile X syndrome (FXS), as a monogenic cause of intellectual disability and autism spectrum disorder, has been one of the first neurodevelopmental disorders in which molecular and neuronal mechanisms of disease have been identified, leading to the concept of targeting the underlying disease to reverse symptoms. Translating findings in basic science and animal models to humans with FXS has proven difficult. These challenges have prompted the FXS field to organize to build interlocking projects to support initiatives to improve supportive care, make clinical research accessible to families, generate collaborative research on natural history and outcome measures, and create clinical trial consortia and novel trial designs.
The Road to Personalized Therapies: Lessons Learned From Angelman Syndrome
Authors: Duis Jessica 
Published: February 2022

Abstract
Angelman syndrome (AS) is a neurogenetic disorder characterized by delays including a severe expressive language delay, motor concerns, ataxia, epilepsy, sleep disturbances, gastrointestinal problems, and characteristic behaviors, including a happy demeanor, hyperactivity, and excitability. The syndrome is one of the first neurodevelopmental disorders with a clear trajectory towards meaningful treatment with approximately 20 companies actively developing targeted therapeutics for AS. Herein, we highlight the historical context of the road to therapeutics and some of the challenges in the field with the potential to impact the success of clinical trials for Angelman syndrome and also have relevance of other neurogenetic developmental disabilities.