bluuebunny/crossref_metadata_2025_split huggingface dataset:
Parental Perspectives on Life-Altering News in Emergency Settings
Authors: Visclosky Timothy , Kadri Adam , Sedig Laura , Reynolds Lyndsey , Wolff Margaret 
Published: March 2023

Introduction
Delivering life-altering news is a difficult task that is frequently the responsibility of emergency physicians. However, the existing frameworks for guiding such interactions fail to address the physician-parent-patient dynamic of pediatric emergency encounters. To date, no study has investigated the parental perspective, limiting the ability to provide evidence-based recommendations. This study describes how parents experience receiving life-altering news about their child in emergency settings.

Methods
This qualitative study used virtual asynchronous focus groups. Through purposeful sampling of virtual support and advocacy groups, we recruited parents of children diagnosed with either malignancy or type 1 diabetes in an emergency department. Participants were then assigned to private Facebook groups established solely for this study. Questions were posted to these groups over the course of 5 days. At their convenience, participants could post responses, replies, or new questions. Three members of the research team performed thematic analysis and used team consensus to ensure validity.

Results
Four focus groups were conducted with a total of 28 participants. Parents described their experiences receiving life-altering news as a process with 4 primary emergent themes: lens through which they view the experience, the ED encounter, the immediate response, and the long-term impact. Each parent entered into the ED encounter with a unique collection of personal experiences, circumstances, and knowledge. These factors shaped the lens through which they perceived the events of the ED encounter. Ultimately, this determined participants' response to the life-altering news, leading to many long-term impacts on the various dynamics within each parent's life.

Conclusions
The words used to disclose life-altering news are only a small piece of the experience for parents. Personal lenses changed how encounters were perceived, resulting in variable and long-lasting implications. We recommend the following framework for providers: understand the lens, control encounters, manage responses, and respect long-term impacts.
The Safety and Strategies for Reinitiating Electroconvulsive Therapy After ECT-Induced Takotsubo Cardiomyopathy
Authors: Kinoshita Michiko , Kinoshita Makoto , Takahashi Rikako , Mutoh Sarara , Kakuta Nami , Tanaka Katsuya 
Published: March 2023

Objectives
Takotsubo cardiomyopathy (TCM) is a life-threatening complication of electroconvulsive therapy (ECT). We report the case of a 66-year-old woman who was rechallenged with ECT after ECT-induced TCM. Moreover, we have made a systematic review to assess the safety of and strategies for reinitiating ECT after TCM.

Methods
We searched for published reports on ECT-induced TCM since 1990 in MEDLINE (PubMed), Scopus, Cochrane Library, ICHUSHI, and CiNii Research.

Results
A total of 24 ECT-induced TCM cases were identified. Patients who developed ECT-induced TCM were predominantly middle-aged and older women. There was no specific trend in anesthetic agents used. Seventeen (70.8%) cases developed TCM by the third session in the acute ECT course. Eight (33.3%) cases developed ECT-induced TCM despite the use of β-blockers. Ten (41.7%) cases developed cardiogenic shock or abnormal vital signs related to cardiogenic shock. All cases recovered from TCM. Eight (33.3%) cases tried to receive ECT retrial. The duration until ECT retrial was between 3 weeks and 9 months. The most common preventive measures during ECT retrial were related to β-blockers; however, the type, dose, and route of administration of β-blockers varied. In all cases, ECT could be reperformed without TCM recurrence.

Conclusions
Electroconvulsive therapy–induced TCM is more likely to cause cardiogenic shock than nonperioperative cases; nevertheless, it has good prognosis. Cautious reinitiation of ECT after TCM recovery is possible. Further studies are required to determine preventive measures for ECT-induced TCM.
A Multi-layer Perceptron Neural Network for Predicting the Osteoporosis in Women Using Physical Activity Factors
Authors: Kim Jun-hee 
Published: March 2023

ABSTRACTIntroductionOsteoporosis (OP) is a bone disease caused by a decrease in bone mineral density (BMD). OP is common in women because BMD gradually decreases after age 35. OP due to decreased BMD is highly likely to cause fatal traumatic injuries such as hip fracture. The purpose of this study was developed and evaluated a multi-layer perceptron neural network model that predicts OP using physical characteristics and activity factors of adult women over the age of 35 whose BMD begins to decline.Materials and MethodsData from KNHANES were used to develop a multi-layer perceptron model for predicting OP. Data preprocessing included variable selection and sample balancing, and LASSO was used for feature selection. The model used 5 hidden layers, dropout and batch normalization and was evaluated using evaluation scores such as accuracy and recall score calculated from a confusion matrix.ResultsModels were trained and evaluated to predict OP using selected features including age, quality of life index, weight, grip strength and average working hours per week. The model achieved 76.8% accuracy, 74.5% precision, 80.5% recall, 77.4% F1 score, and 74.8% ROC AUC.ConclusionA multi-layer perceptron neural network for predicting OP diagnosis using physical characteristics and activity factors in women aged 35 years or older showed relatively good performance. Since the selected variables can be easily measured through surveys, assessment tool, and digital hand dynamometer, this model will be useful for screening elderly women with OP or not in areas with poor medical facilities or difficult access.
Characterisation of the retinal phenotype using multimodal imaging in novel compound heterozygote variants ofCYP2U1
Authors: Sallo Ferenc B , Dysli Chantal , Holzer Franz Josef , Ranza Emmanuelle , Guipponi Michel , Antonarakis Stylianos E , Munier Francis L , Bird Alan C , Schorderet Daniel F , Rossillion Beatrice , Vaclavik Veronika 
Published: March 2023

ABSTRACTPurposeTo report the retinal phenotype in two patients simulating type 2 macular telangiectasis with new variants inCYP2U1implicated in Hereditary Spastic Paraplegia type 56 (HSP 56).MethodsFive members of a non-consanguineous family (parents and three male children) were investigated. All family members underwent a full ophthalmological evaluation and multimodal retinal imaging. Two family members demonstrating retinal anomalies underwent additional OCT angiography, dual wavelength autofluorescence and fluorescence lifetime imaging ophthalmoscopy, kinetic perimetry, fundus-correlated microperimetry, electroretinography and electro-oculography. Whole exome sequencing was performed in all five family members.ResultsThe two siblings with compound heterozygous novel variants c.452C>T; p.(Pro151Leu), c.943C>T; p.(Gln315Ter) inCYP2U1demonstrated parafoveal loss of retinal transparency and hyperreflectivity to blue light, redistribution of luteal pigment to the parafoveal edge, photoreceptor loss, FLIO anomalies: a pattern compatible with that seen in macular telangiectasia type 2 (MacTel). One had manifest neurological abnormalities since early childhood, the second had no neurological abnormalities. Each parent and the third sibling were heterozygous for one variant and were neurologically and ophthalmologically normal.ConclusionTheseCYP2U1variants are associated with a retinal phenotype very similar to that otherwise specific for MacTel, suggestive of possible links in the aetiology/pathogenesis of these diseases.
Preterm Prelabour Rupture Of Membranes (PPROM) before 23 weeks gestation: A prospective observational study
Authors: Goodfellow L , Care A , Curran C , Roberts D , Turner M.A. , Knight M , Alfirevic Z 
Published: March 2023

ABSTRACTObjectivesDescribe infant and maternal outcomes of a national cohort of women with preterm prelabour rupture of membranes (PPROM) under 23 weeks gestation.DesignProspective national population-based cohort study using the UK Obstetric Surveillance System (UKOSS).SettingAll 194 obstetric units in the UK.Participants330 women with singleton and 38 with multiple pregnancies and PPROM between 16+0and 22+6weeks gestation 1/9/19-28/2/21.Main outcome measuresInfant outcomes: livebirth, survival to hospital discharge and severe morbidity, defined as intraventricular haemorrhage grade 3 or 4 and/or supplemental oxygen requirement at 36 weeks postmenstrual age.Maternal outcomes: surgery for placental removal; sepsis; admission to intensive treatment unit (ITU) and death.MethodsAll data including rates of termination of pregnancy for medical reasons (TFMR) were reported. Three rates were calculated for infant outcomes: i) all TFMR excluded; ii) assuming that all TFMR and those with missing data would have died; iii) assuming that all TFMR and those with missing data would be liveborn. Rates are presented as i (ii to iii).ResultsFor singleton pregnancies the livebirth rate was 44% (30 to 62%), infant survival to discharge was 26% (16 to 54%) and 18% (12 to 49%) of infants survived without severe morbidity. Maternal sepsis rate was 12% for singleton and 26% for twin pregnancies. Surgery for placental removal was 20% and 14%, respectively.Five women became severely unwell with sepsis, 2 died and a further 3 required ITU care.ConclusionsAlthough significant numbers of pregnancies with very early PPROM have favourable outcomes, morbidity and mortality rates in this cohort are high for mothers and infants.These data can be used in counselling families facing PPROM prior to 23 weeks gestation and to underpin research into the complex pathologies, including sepsis, related to this condition. Currently available guidelines should be updated accordingly.What is already known on this topicPPROM under 23 weeks gestation is a serious pregnancy complication with high rates of morbidity for mothers and infantsWomen are often advised to consider termination for medical reasons (TFMR)Contemporary, population based, pregnancy outcomes are not available, making counselling even more difficultWhat this study addsThis study identified significant maternal morbidity; 12% of women developed sepsis and 2 women (0.6%, 95%CI 0.17-2.2%) diedConversely infant outcomes were relatively favourable; 26% of expectantly managed infants survived to hospital discharge and the potential worst-best case survival range including those that had termination for medical reasons (TFMR) was 16-54%Understanding of these results are imperative to appropriate counselling and management of women facing this difficult complication
Deeplasia: prior-free deep learning for pediatric bone age assessment robust to skeletal dysplasias
Authors: Rassmann Sebastian , Keller Alexandra , Skaf Kyra , Hustinx Alexander , Gausche Ruth , Ibarra-Arrelano Miguel A. , Hsieh Tzung-Chien , Madajieu Yolande E. D. , Nöthen Markus M. , Pfäffle Roland , Attenberger Ulrike I. , Born Mark , Mohnike Klaus , Krawitz Peter M. , Javanmardi Behnam 
Published: March 2023

AbstractBackgroundSkeletal dysplasias collectively affect a large number of patients worldwide. The majority of these disorders cause growth anomalies. Hence, assessing skeletal maturity via determining the bone age (BA) is one of the most valuable tools for their diagnoses. Moreover, consecutive BA assessments are crucial for monitoring the pediatric growth of patients with such disorders, especially for timing hormone treatments or orthopedic interventions. However, manual BA assessment is time-consuming and suffers from high intra-and inter-rater variability. This is further exacerbated by genetic disorders causing severe skeletal malformations. While numerous approaches to automatize BA assessment were proposed, few were validated for BA assessment on children with abnormal development.ObjectiveWe design and present Deeplasia, an open-source prior-free deep-learning approach for pediatric bone age assessment specifically validated on patients with skeletal dysplasias.Materials and methodsWe extensively experiment with training multiple convolutional neural network models under various conditions and select three to build a precise model ensemble. We utilize the public RSNA BA dataset consisting of training, validation, and test subsets each containing 12,611, 1,425, and 200 hand X-rays, respectively. For testing the performance of our model ensemble on dysplastic hands, we retrospectively collected 568 X-ray images from 189 patients with molecularly confirmed diagnoses of seven different genetic bone disorders including Achondroplasia and Hypochondroplasia.ResultsOn the public RSNA test set, we achieve state-of-the-art performance with a mean absolute difference (MAD) of 3.87 months based on the average of six different reference ratings. We demonstrate the generalizability of Deeplasia to the dysplastic hands (unseen by the models) achieving a MAD of 5.84 months w.r.t. to the average of two reference ratings. Further, using longitudinal data from a subset of the dysplastic cohort (149 images), we estimate the test-retest precision of our model ensemble to be at least at the human expert level (2.74 months).ConclusionWe conclude that Deeplasia suits assessing and monitoring the BA in patients with skeletal dysplasia.
How has the municipal availability of theGeneXpert®MTB/RIFsystem affected the detection of drug-resistant tuberculosis in Brazil?
Authors: Aguilar-Jiménez Jhancy Rocío , Pelissari Daniele Maria , Diaz-Quijano Fredi Alexander 
Published: March 2023

ABSTRACTObjectiveTo evaluate the association between the availability ofGeneXpert®MTB/RIFin municipalities and the proportion of people who have access to this diagnostic technology for tuberculosis (TB), as well as the resistance detected by the surveillance system in Brazil.MethodsWe analyzed 4,998 Brazilian municipalities that reported 432,937 new TB cases between 2015 and 2020. We compared municipalities with and without the availability ofGeneXpert®MTB/RIFregarding the prevalence of effective access toGeneXpert®MTB/RIFdiagnosis and that of detected resistance.ResultsMunicipalities with at least oneGeneXpert®MTB/RIFsystem had three times (95%CI 2.9-3.0) the access to diagnostic tests and 80.4% (95%CI 70.6%-90.2%) higher detection of resistance, compared to municipalities without this technology. We estimate that there have been 2,110 cases of undetected resistance during this period in the country.ConclusionsThe availability ofGeneXpert®MTB/RIFsystem in the municipality increased the sensitivity of the surveillance for detecting TB resistance.Public Health implicationsIt is a priority to strengthen laboratory networks and narrow the gap in access to rapid diagnosis in remote areas to improve the detection and control of drug-resistant tuberculosis.
SEX DIFFERENCES IN THE MANAGEMENT OF SUSPECTED STROKE IN A TELESTROKE NETWORK
Authors: Pérez-Sánchez Soledad , Barragán-Prieto Ana , Loscertales Juan Bautista , Cabezas Rodríguez Juan Antonio , Zapata-Arriaza Elena , Amaya Laura , Gómez Andrés Hermosín , Gamero García Miguel Ángel , Galeano Benito , Fernández Javier , Galiana Blanca Pardo , Mayoral Ana Domínguez , Gómez Leire Ainz , Navarro Jose Fernández , del Toro Cristina , Medina Manuel , de Torres Reyes , Baena Pablo , Moniche Francisco , Moyano Roberto Valverde , Martínez Patricia , González Alejandro , Montaner Joan 
Published: March 2023

ABSTRACTBACKGROUNDThe evolution of ischemic stroke is different according to sex and is one of the main causes of death in women. In the literature, it is not clear if this is due to biological differences or to disparities in medical care. Previous studies have shown that women are less likely to receive acute treatment, and stroke center type is an important predictor of door-to-needle times. We investigated whether women are attended in a similar way to men in the telestroke network with specialized stroke physicians.METHODSA prospective registry of ischemic strokes recorded in the centralized Andalusian telestroke network (CATI) was analyzed, focusing on sex differences. Demographic data, clinical characteristics (risk factors), neuroimaging data, treatment intervals, and clinical results (the modified Rankin Scale [mRS] score) were collected. Functional outcomes were evaluated using the mRS at 90 days.RESULTSA total of 3009 suspected stroke patients were attended to in the telestroke network in the last three years, of which 42.74% were women. A total of 69.54% of the men and 63.85% of the women were diagnosed with ischemic stroke (p=0.002). Women were older (p>0.001) and less independent upon arrival (p=0.006) than men. There was no difference in the treatment received or in the treatment intervals between the groups. Importantly, there was no difference in mRS scores at 3 months between sexes. However, at follow-up, women had fewer imaging tests (p = 0.018) and fewer outpatient visits (p<0.001) than men.CONCLUSIONSNo significant difference between men and women has been found in the acute treatment of stroke in a large telestroke network. However, the same is not true for the follow-up and management of patients after the acute phase. This fact supports that strict adherence to protocols, training, and specialization of care and providing equal attention prevents sex differences in stroke treatment and functional outcomes.
signifinder enables the identification of tumor cell states and cancer expression signatures in bulk, single-cell and spatial transcriptomic data
Authors: Pirrotta Stefania , Masatti Laura , Corrà Anna , Pedrini Fabiola , Esposito Giovanni , Martini Paolo , Risso Davide , Romualdi Chiara , Calura Enrica 
Published: March 2023

AbstractOver the last decade, many studies and some clinical trials have proposed gene expression signatures as a valuable tool for understanding cancer mechanisms, defining subtypes, monitoring patient prognosis, and therapy efficacy. However, technical and biological concerns about reproducibility have been raised. Technical reproducibility is a major concern: we currently lack a computational implementation of the proposed signatures, which would provide detailed signature definition and assure reproducibility, dissemination, and usability of the classifier. Another concern regards intratumor heterogeneity, which has never been addressed when studying these types of biomarkers using bulk transcriptomics.With the aim of providing a tool able to improve the reproducibility and usability of gene expression signatures, we proposesignifinder, an R package that provides the infrastructure to collect, implement, and compare expression-based signatures from cancer literature. The included signatures cover a wide range of biological processes from metabolism and programmed cell death, to morphological changes, such as quantification of epithelial or mesenchymal-like status. Collected signatures can score tumor cell characteristics, such as the predicted response to therapy or the survival association, and can quantify microenvironmental information, including hypoxia and immune response activity.signifinderhas been used to characterize tumor samples and to investigate intra-tumor heterogeneity, extending its application to single-cell and spatial transcriptomic data. Through these higher-resolution technologies, it has become increasingly apparent that the single-sample score assessment obtained by transcriptional signatures is conditioned by the phenotypic and genetic intratumor heterogeneity of tumor masses. Since the characteristics of the most abundant cell type or clone might not necessarily predict the properties of mixed populations, signature prediction efficacy is lowered, thus impeding effective clinical diagnostics. Throughsignifinder, we offer general principles for interpreting and comparing transcriptional signatures, as well as suggestions for additional signatures that would allow for more complete and robust data inferences. We considersignifindera useful tool to pave the way for reproducibility and comparison of transcriptional signatures in oncology.
Microglial MHC-I induction with aging and Alzheimer’s is conserved in mouse models and humans
Authors: Kellogg Collyn M. , Pham Kevin , Machalinski Adeline H. , Porter Hunter L. , Blankenship Harris E. , Tooley Kyla , Stout Michael B. , Rice Heather C. , Sharpe Amanda L. , Beckstead Michael J. , Chucair-Elliott Ana J. , Ocañas Sarah R. , Freeman Willard M. 
Published: March 2023

AbstractMajor Histocompatibility Complex I (MHC-I) CNS cellular localization and function is still being determined after previously being thought to be absent from the brain. MHC-I expression has been reported to increase with brain aging in mouse, rat, and human whole tissue analyses but the cellular localization was undetermined. Neuronal MHC-I is proposed to regulate developmental synapse elimination and tau pathology in Alzheimer’s disease (AD). Here we report that across newly generated and publicly available ribosomal profiling, cell sorting, and single-cell data, microglia are the primary source of classical and non-classical MHC-I in mice and humans. Translating Ribosome Affinity Purification-qPCR analysis of 3-6 and 18-22 month old (m.o.) mice revealed significant age-related microglial induction of MHC-I pathway genesB2m,H2-D1,H2-K1,H2-M3,H2-Q6, andTap1but not in astrocytes and neurons. Across a timecourse (12-23 m.o.), microglial MHC-I gradually increased until 21 m.o. and then accelerated. MHC-I protein was enriched in microglia and increased with aging. Microglial expression, and absence in astrocytes and neurons, of MHC-I binding Leukocyte Immunoglobulin-like (Lilrs) and Paired immunoglobin-like type 2 (Pilrs) receptor families could enable cell-autonomous MHC-I signaling and increased with aging in mice and humans. Increased microglial MHC-I, Lilrs, and Pilrs were observed in multiple AD mouse models and human AD data across methods and studies. MHC-I expression correlated withp16INK4A, suggesting an association with cellular senescence. Conserved induction of MHC-I, Lilrs, and Pilrs with aging and AD opens the possibility of cell-autonomous MHC-I signaling to regulate microglial reactivation with aging and neurodegeneration.