bluuebunny/crossref_metadata_2025_split huggingface dataset:
Demineralization of Osseous Structures as Presentation of a Rare Genetic Disorder That Is Associated With a High Rate of Mortality
Authors: Afrah Adeeba , Finkel Michael A. , Fonseca Carolina , Asato Marianne Tomiyoshi , Jay M. Susan , Pappas Athina , Gowda Shashikala B. , Jay Allison 
Published: December 2024

Objectives: Describe the details of the clinical presentation, diagnostic challenges, and management of a female neonate with neonatal severe hyperparathyroidism (NSHPT).Methods: This case report was developed from a retrospective chart review. The female infant was born to consanguineous parents—first cousins, with multiple prenatal concerns, including gestational diabetes, intrauterine growth restriction, polyhydramnios, and suspicion of a hypoplastic left atrium on prenatal echocardiogram (ECHO). Following a planned C‐section at 37 weeks gestation, the neonate exhibited moderate respiratory distress with subcostal retractions. On physical examination, craniotabes, a bell‐shaped chest, and a continuous machinery‐type murmur were noted.Results: Evaluation at birth revealed a large Patent Ductus Arteriosus and significant demineralization of skeletal structures with atypical rib morphology. Lab work at 24 h of life (HOL) showed elevated serum calcium level (14.3 mg/dL), ionized calcium—iCal (2.32 mmol/L), and normal 25‐OH Vitamin D (54.2 ng/mL). A comprehensive skeletal survey uncovered generalized osteopenia, metaphyseal lucencies, and evidence of healing fractures. Repeat lab work at 43 HOL, showed serum calcium of 18.0 mg/dL, iCal 2.67 mmol/L, and elevated parathyroid hormone (PTH) of 2116 pg/mL. Diagnosis of NSHPT was established based on laboratory findings. Molecular testing confirmed a homozygous variant (c.1744T >A; p.Cys582Ser) in the calcium‐sensing receptor (CaSR) gene which confirmed the diagnosis of NSHPT. NSHPT, a rare genetic disorder associated with high mortality rates, is often caused by inactivating CaSR gene variants. The patient’s family history revealed a strong correlation with familial hypocalciuric hypercalcemia (FHH), a benign condition associated with asymptomatic hypercalcemia, normal to minimally elevated parathyroid level, and hypocalciuria, it is caused by heterozygous inactivating mutations in the CaSR gene. Treatment of NSHPT typically involves total or subtotal parathyroidectomy; however, initial medical intervention is often necessary. In this case, the neonate underwent medical treatment with calcitonin, furosemide to help facilitate renal clearance of calcium, and intravenous fluids before a successful parathyroidectomy.Conclusions: This case accentuates the importance of considering rare genetic disorders in neonates with complex clinical presentations and affirms the need for comprehensive counseling and education, particularly in consanguineous parents, to address familial implications and guide appropriate interventions.
Imagining Human-AI Memory Symbiosis
Authors: Richardson-Walden Victoria Grace , Makhortykh Mykola 
Published: December 2024

Abstract
In this article, we critically examine the history of artificial intelligence (ai) to explore how it can shape the future of collective memory. By situating our work within critical debates that challenge the dominant anthropomorphising discourse of ai, we scrutinise how ai specificities shape its interactions with information about the past. We highlight how the development of ai has been often misremembered in public discourse, and by extension in the humanities, and explore the consequences for ai’s emerging status as a form of media memory. Based on our exploration, we outline three scenarios for the future of ai-shaped collective memory: 1) the reiteration of the simulative paradigm of ai media memory; 2) the enfolding of ai as an alien actant in human (memory) collectives; and 3) the recognition of the radical alterity of ai for human-ai memory symbiosis.
Collective Memory Through Computer Memories
Authors: Volynskaya Alina 
Published: December 2024

Abstract
Articulating the interplay between collective memory and artificial intelligence, this paper examines the saildart archive, a unique digital collection derived from the backup tapes of the Stanford Artificial Intelligence Laboratory (sail). Preserved somewhat serendipitously and not originally intended to serve as an archive, saildart has retained nearly the entire contents of the laboratory’s computers from 1972 to 1990. By exploring the archive’s origins, structure, selection and appraisal practices, the article sets the stage for a discussion on the nature of machine-recorded and machine-produced (collective) memory. It not only aims to contribute to the historiography of early ai but also raises questions about interpreting such a machine archive. As a method of archival interpretation, I propose to employ modern ai algorithms, thereby making them a medium for understanding and interpreting their own history.
Comparing anesthesia protocols in high intensity focused ultrasound treatments: The HIFU-pain study
Authors: Casoni Paolo , Nanni Emanuele , Pizzamiglio Matteo , Bissacco Daniele 
Published: December 2024

Background to compare different anesthesia protocols during High Intensity Focused Ultrasound (HIFU) for saphenous trunk (GSV/SSV) and/or varicosities incompetence treatment. Material and methods patients with GSV/SSV incompetence with varicose veins underwent HIFU under different anesthesia protocols. The primary endpoint was the pain score during HIFU using a 10-point scale. Results Out of 262 legs analyzed, main pain score was 1.03 ± 1.27. Intradermal + oral anesthesia treatments resulted in less procedural pain if compared with intradermal ± perivenous protocols (1.30 ± 0.19 vs 0.81 ± 0.09; p = .001). Conversely, perivenous injection decrease early complete recanalization rate. Conclusion These preliminary results suggest that HIFU is an almost pain-free procedure. Procedural pain could be further minimized by using specific intradermal + oral anesthesia treatments, despite perivenous anesthetic could improve postoperative outcomes.
Microglia balances hypermyelination and demyelination in the brain
Authors: Chen Weijie , Zhang Yueman , Li Peiying 
Published: December 2024

Myelin is crucial for neuron health and central nervous system (CNS) function. Recent research by McNamara et al. highlighted microglia’s essential role in compacting the myelin sheath during development and their absence leads to aberrant oligodendrocyte clusters and subsequent cognitive impairment. The study revealed that the critical involvement of the TGFβ1–TGFβR1 axis in microglia-oligodendrocyte communication could influence the oligodendrocyte lipid metabolism and thereby regulate myelin integrity. Further exploration is needed to fully elucidate the dual impact of microglia on myelination, and interactions with other glial cells, holding promise for discovering new targets in myelin-related neurodegenerative and CNS disorders.
Four pathogenic variants co-occurring in a MINAS early-onset breast cancer
Authors: Bondavalli Davide , Urtis Mario , Grasso Maurizia , Giorgianni Carmela , Cassani Chiara , Sgarella Adele , Ferrari Alberta , Rizzo Gianpiero , Arbustini Eloisa 
Published: December 2024

Introduction Multilocus Inherited Neoplasia Allele Syndrome (MINAS) is a condition defined by the presence of germline pathogenic variants in more than one Cancer Susceptibility Gene (CSG). MINAS is still underreported in the literature and public databases. Since MINAS-related phenotypes are difficult to predict, case descriptions may contribute to risk assessment, treatment, and personalized surveillance for proband and relatives. Case Description: Here we report a unique case of early onset, bifocal, non-Triple Negative breast cancer in a 31-year-old woman. Fast metastatic dissemination involving the brain caused the death of the patient in a few months. Her multigene panel testing showed the co-occurrence of pathogenic variants in PALB2 (c.1221del; p.Thr408fs*40), ATM (c.8545C>T; p.Arg2849*), PMS2 (c.1919C>A; p.Ser640*), and MUTYH (c.1103G>A; p.Gly368Asp). The patient inherited the ATM and MUTYH variants from the mother, and PALB2 and PMS2 variants from the father. The brother inherited the maternal ATM and paternal PMS2 variants. A baseline imaging-based family screening excluded malignancies in both parents and in the brother. Tailored monitoring is ongoing based on the risk predicted by pathogenic variants identified in family members. Conclusions: Currently, there are no predictive tools available to determine organ-specific cancer risk in MINAS patients. Given the uncertainty in predicting the phenotypic effect of multiple variants in CSGs, ongoing clinical surveillance and sharing data from complex cases are crucial for improving risk stratification in this condition.
Preliminary study: Low to moderate PEEP effects on ICP in acute neurological injury patients under mechanical ventilation
Authors: Xiu Nan 
Published: December 2024

Background Acute respiratory distress syndrome (ARDS) significantly impacts mortality and prognosis in acute neurological injury patients. Positive end-expiratory pressure (PEEP) is essential in mechanical ventilation to enhance oxygenation, yet its application may elevate intracranial pressure (ICP). Studies show conflicting findings regarding PEEP's effect on ICP, particularly at low to moderate levels (5–10cmH2O), warranting further investigation in acute neurological injury cases. Objective To assess the impact of low to moderate PEEP on ICP in patients with acute neurological injury who require mechanical ventilation. Methods A retrospective analysis of 62 patients with acute neurological injury requiring mechanical ventilation at our hospital between January 2021 and September 2023 was conducted. Patients were divided into high PEEP (> 10cmH2O) and low to moderate PEEP (5–10cmH2O) groups. Parameters including PaO2, PaCO2, PaO2/FiO2, driving pressure, compliance (Cst), airway resistance, such as heart rate (HR), systolic blood pressure (SBP), diastolic blood pressure (DBP), mean arterial pressure (MAP), central venous pressure (CVP), cardiac index (CI), ICP, and cerebral perfusion pressure (CPP) were recorded pre- and post-ventilation initiation, with correlation analysis performed between ICP and other parameters. Results Pre-treatment comparisons between the high PEEP and low to moderate PEEP groups revealed no significant differences in PaO2, PaCO2, PaO2/FiO2, driving pressure, Cs, and airway resistance. However, post-treatment analysis showed significant disparities, with the high PEEP group exhibiting higher PaO2 and PaO2/FiO2 levels and lower PaCO2, driving pressure, and airway resistance levels compared to the low to moderate PEEP group. Additionally, hemodynamic parameters such as HR, SBP, DBP, CI, MAP, CVP, ICP, and CPP remained more stable in the low to moderate PEEP group post-treatment, with ICP demonstrating significant correlations with various physiological parameters. Conclusion High PEEP improves oxygenation and respiratory mechanics in acute neurological injury patients on mechanical ventilation but may affect hemodynamic parameters, ICP, and CPP. Conversely, low to moderate PEEP has minimal impact on these factors. Hence, personalized adjustment of PEEP levels is essential in clinical management.
Parkinson disease prediction using improved crayfish optimization based hybrid deep learning
Authors: Malathi A , Ramalakshmi R , Gandhi Vaibhav , Bhuvanesh A 
Published: December 2024

Background Predicting the course of Parkinson's disease is essential for prompt diagnosis and treatment, which may enhance patient outcomes. Objective This study presents a novel method for Parkinson's disease prediction using freely accessible resources. The suggested approach starts with band-pass filter data preprocessing and uses Empirical Mode Decomposition (EMD) for feature extraction. Then, for classification, these features are supplied into an Attention-based Efficient Bidirectional Network (ImCfO_Attn_EffBNet) based on Improved Crayfish Optimization. EfficientNet-B7, BiLSTM, and Attention modules are integrated by ImCfO_Attn_EffBNet to effectively gather temporal and geographic data. Methods Additionally, we use the Improved Crayfish Optimization (ImCfO) algorithm to maximize convergence rates, optimize the loss function, and find the global best solutions. Results ImCfO enhances performance by adding a self-adaptation criterion to the traditional crayfish algorithm. The classifier's configurable parameters are adjusted using the ImCfO resultant solution, which raises the prediction accuracy overall. Conclusion Based on a number of assessments, the ImCfO_Attn_EffBNet analyzed the performance and found that the results were as follows: accuracy (95.068%), recall (92.948%), specificity (92.89%), F-Score (92.89%), precision (92.89%), and FPR (2.1%), in that order.
Feasibility of using a multivariate serum biomarker model in early pregnancy to predict gestational hypertension
Authors: Fang Meixia , Gao Xiaoli 
Published: December 2024

Background With the increasing need for early prediction and intervention of Pregnancy-Induced Hypertension (PIH), researchers have begun to explore the use of multiserum biomarker models to improve the accuracy and reliability of predictions. It is estimated that between 5% and 8% of pregnant women worldwide experience pregnancy-induced hypertension, which is one of the leading causes of maternal death and adverse neonatal outcomes. Given the potential negative impact of pregnancy-induced hypertension on maternal and infant health, early identification of high-risk individuals and appropriate preventive measures are particularly important. Objective To assess the feasibility of using a multivariate serum biomarker model in early pregnancy to predict gestational hypertension. Methods Retrospective analysis was conducted on the clinical data of 125 pregnant women admitted to our hospital from January 2021 to December 2022. The occurrence of gestational hypertension was recorded and multiple serum biomarkers were collected and compared between the exposure and non-exposure groups. Logistic regression analysis was performed to identify influencing factors for gestational hypertension. Correlations between each factor and gestational hypertension were analyzed, and a line chart model was constructed. The discriminative ability of the model was evaluated using the C-index, and internal validation was conducted using ten-fold cross-validation and bootstrap validation. Results Out of 125 pregnant women, 35 (28.00%) developed gestational hypertension. β-HCG and Hcy were identified as independent risk factors, while PAPP-A, AFP, and uE3 were identified as independent protective factors. There was a positive correlation between Hcy, β-HCG, and gestational hypertension, and a negative correlation between PAPP-A, AFP, uE3, and gestational hypertension. The predictive line chart model had a C-index of 0.885 and an average AUC value of 0.853 after internal validation. Conclusion β-HCG and Hcy are risk factors, while PAPP-A, AFP, and uE3 are protective factors for gestational hypertension. A line chart model based on these factors can help identify pregnant women at risk of developing gestational hypertension in early pregnancy.
Cataract surgical training: Analysis of the results of the European Board of Ophthalmology survey in the Swiss cohort
Authors: Yaïci Rémi , Khamsy Lilly , Potic Jelena , Dhubhghaill Sorcha Ní , Sanogo Massira , Lefebvre François , Aclimandos Wagih , Asoklis Rimvydas , Atilla Huban , Creuzot-Garcher Catherine , Curtin Denise , Cvenkel Barbara , Flanagan Lisa , Kivelä Tero T. , Maino Anna , Costa Rafael Martinez , Filipe Helena Prior , Stopa Marcin , Strong Brendan , Tassignon Marie José , Ivekovic Renata , Priglinger Siegfried , Sturmer Joerg , Bourcier Tristan 
Published: December 2024

Introduction This study, part of a series, analyses the Swiss cohort from an EBO survey on cataract surgery training in Europe, focusing on Switzerland's unique program. The survey identifies two models: training all residents in surgery, and a “high-volume surgeon” model where only some learn CS post-residency. Methods This study analyses the survey results of Swiss participants in the EBO examinations (2018–2022) and compared them with the most important cohorts (Germany, France and Spain). Results Out of 251 respondents, 87 (34.7%) answered the questionnaire. Most (70.1%) had taken the EBO exam between 2021–2022, with the majority of study participants being men (55.2%) with a median age of 34 years and came from 12 different cantons. Two third (68.8%) of respondents had not performed any steps of cataract surgery on patients during their residency. Notably, 22.1% stated that they had carried out 10 or more training sessions on virtual reality simulator, 5.8% on synthetic eyes and 21% on animal eyes. A notable discrepancy was observed between participants with 10 or more training sessions and those without specific training in four key areas: self-assessed confidence and ability to perform cataract surgery (p = 0.006), management of challenging cases (p = 0.027), handling complications like posterior capsular tear (p = 0.031) and in performing corneal sutures (p = 0.023). Discussion Switzerland fits into the “high-volume surgeon” model group; extensive simulation-based training there significantly boosts self-confidence in performing CS, an effect less noticeable in countries offering hands-on training during residency.
Do children <3years at index surgery for DDH have a better outcome at mid-term follow-up in comparison to children >3years at index surgery? A prospective comparative study
Authors: Singh Vivek , Gowda Aditya KS , Sharma Cury , PV Chanakya , Dhingra Mohit , Kandwal Pankaj , Maheshwari Vikas 
Published: December 2024

Background: Diagnosis and management of developmental dysplasia of hip (DDH) in underdeveloped regions is frequently delayed, potentially impacting final outcomes. This prospective study was conducted with the aim of answering the question, “Do children <3 years at index surgery for DDH have better outcome at 5-year follow-up in comparison to children >3 years at index surgery?” Methods: Between 2016 and 2021, all walking-age children with DDH were prospectively enrolled in the study. The study cohort was divided into 2groups: Group 1 ⩽3 years of age, and Group 2 included children >3 years old. Intraoperative decisions determined the need for addition of femoral or pelvic osteotomy to the open reduction (OR). Follow-up assessment and group comparison included acetabular-index (AI), proximal femoral growth disturbances (PFGD), and outcomes based on Severin’s criteria. Subgroup analysis also compared re-dislocated hips with stable hips post-surgery. Children with follow-ups <3 years were excluded. Results: 45 hips in 38 children analysed (31 in Group 1 and 14 in Group 2). Group 1 had higher pre-op AI ( p  = 0.0489). More hips in Group 2 underwent OR with femoral osteotomy ( p  = 0.0016). Re-dislocation occurred in 6 (19%) in Group 1 and 2 (14%) in Group 2. Subgroup analysis revealed higher index postoperative AI in re-dislocated hips ( p  = 0.0001). At the final follow-up, AI was similar between Groups 1 and 2 ( p  = 0.27). Overall, satisfactory outcomes were comparable between Groups 1 and 2 ( p  = 0.21). PFGD changes were significantly higher in Group 2 ( p  = 0.028) and in re-dislocated hips ( p  = 0.004). Satisfactory outcomes were found in 89% of non-re-dislocated hips and 75% of re-dislocated hips. Conclusions: At an average follow-up of 5 years, children above and below 3 years at index procedure for DDH show similar outcomes but older ones need femoral osteotomy more frequently. Osteonecrosis risk rises with increasing age at index surgery and after re-operations, but its impact is not clear in mid-term.
Chinese expert consensus on tunneled technique for peripherally inserted central venous catheters
Authors: Li Jia , Wu Zhenming , Lu Zhenqi , Hu Zeyin , Luo Mengna , Fan Yuying , Qin Huiying 
Published: December 2024

Objective: To formulate an expert consensus on an evidence-based overview of all topics related to the Tunneled Peripherally Inserted Central Venous Catheters. Methods: A Chinese consensus based on evidence has provided a definition and indications for Tunneled Peripherally Inserted Central Venous Catheters. The literature on Tunneled Peripherally Inserted Central Venous Catheter was reviewed from its inception to March 2024. The indications were developed using the RAND/UCLA Appropriateness Method. Results: This consensus presents five indications for Tunneled Peripherally Inserted Central Venous Catheters, covering tunneling definitions, key processes, tunneling devices, various applications, and maintenance. The indications aim to enhance patient safety and optimize the efficacy of tunneled peripherally inserted central venous catheters. Conclusions: This consensus is based on critical evidence review and the clinical experts aimed to assist clinicians in applying tunneling techniques. Further prospective studies are needed to evaluate the impact of complications related to the tunneling technique.
Patient reactions to proactive tobacco cessation counseling using a decision aid in primary care: A qualitative study
Authors: Boesch Anne , Durand Marie-Anne , Habfast-Robertson Ines , Jacot-Sadowski Isabelle , Berlin Ivan , Selby Kevin 
Published: December 2024

Medications for smoking cessation can double quit rates but are underused in primary care. This qualitative study aimed to explore: (1) patients’ perspectives regarding having their general practitioner (GP) use a proactive approach to smoking cessation treatment using an encounter decision aid (DA), and (2) their expectations regarding their GP’s role. We conducted qualitative semi-structured interviews with participants of the FIRST randomized trial (adults who smoke daily with any level of motivation for tobacco quitting). In the FIRST study, the intervention was a half-day course teaching GPs to use a proactive approach using a DA. Control GPs received a 1-h refresher training. Phone interviews were run 5-16 weeks after a routine visit with their GP. A thematic data analysis was performed with 20% double independent coding. We conducted 20 semi-structured interviews (mean age 49 years, 55% female). In the intervention group (n = 12), 7 participants appreciated the DA, saw it as useful, usable, and valuable. Two participants did not find it helpful and 3 did not recall having used it. Participants felt their GP provided moral support, more than from a specialist (cardiologist or pulmonologist) because their GP knows them better and has more time during the visit. They felt that the most important factor influencing smoking cessation was their own motivation, not treatment. Most participants appreciated the DA. Most participants did not perceive medications as part of quitting. They thought quitting was a matter of motivation. A DA could be an acceptable way to encourage use of treatments to aid with tobacco cessation. An early presentation of treatment options to all persons who smokes may encourage them to request a treatment when ready to quit smoking. Patient perceptions of the role of GPs and treatments for smoking cessation may be a barrier to seeking help to quit.