bluuebunny/crossref_metadata_2025 huggingface dataset:
Successful rechallenge with Erwinia chrysanthemi asparaginase after pegaspargase-induced hypertriglyceridemia: a case report
Authors: Ciolli Gaia , Pasquini Andrea , Mannelli Francesco , Scappini Barbara , Gianfaldoni Giacomo , Quinti Elisa , Fasano Laura , Caroprese Jessica , Crupi Francesca , Vannucchi Alessandro Maria , Piccini Matteo
Published: September 2024

Polyethylene-glycolated Escherichia coli-derived l-asparaginase (pegaspargase, pASP) is an essential component of paediatric-inspired regimens for the treatment of acute lymphoblastic leukaemia/lymphoma; nonetheless, is characterised by severe and potentially life-threatening toxicities, such as hypertriglyceridemia. Grades 3–4 events have been reported in ~1%–18% of paediatric patients and in sparse reports in adults. There is limited evidence on the safety of asparaginase rechallenge in patients experiencing severe pASP-related hypertriglyceridemia. Herein we present the case of a young adult patient diagnosed with T-LBL who experienced an asymptomatic severe pASP-related hypertriglyceridemia and was safely re-exposed to ASP using Erwinia chrysanthemi asparaginase (crisantapase), with only mild transient hypertriglyceridemia recurrence.
Being a “Global Music Platform”: Platform Work in Light-Tech Capitalism
Authors: Riom Loïc
Published: September 2024

While the literature on music digital platforms has focused mainly on the consequences of production and consumption, few works have looked at platformization from the perspective of companies active in the music business. Drawing on an ethnographic inquiry of Sofar Sounds—a London-based company that organizes intimate and secret concerts in unconventional spaces—I introduce platform work to explore the kinds of practices in which platforms engage. I identify three operations in Sofar Sounds’ platform work: the incorporation of Sofar Sounds concerts into digital devices; its financing by venture capital (VCs) funds; and the activation and generification of its global community. In conclusion, I argue that being a platform involves organizational practices and that studying these practices shifts our attention beyond a few limited successful companies. I propose that light-tech capitalism accounts for this mundane and unsophisticated aspect of platform work.
Young Black American Women’s Social Media Use and Online Victimization
Authors: Onuoha Alexandria C. , Matsuzaka Sara , Stanton Alexis G. , Volpe Vanessa V. , Avery Lanice R.
Published: September 2024

Despite young Black women’s high rates of social media use and risks for victimization at the nexus of sexism and racism, the relationship between these variables remains under researched in this segment. We surveyed 354 Black American women aged 18–30 to explore the associations between two aspects of social media use—time spent daily on social media platforms (i.e., Facebook, Instagram, Snapchat, TikTok, Tumblr, Twitter, and YouTube) and type of social media engagement (i.e., active social use, active non-social use, and passive use)—with four different types of online victimization (i.e., general online victimization [GOV], online sexual victimization [OSV], online individual racial victimization [OIRV], and online vicarious racial victimization [OVRV]). Results indicate that more time spent daily on Tumblr was significantly associated with more experiences of GOV, OSV, and OIRV. More time spent daily on Instagram was significantly associated with more experiences of OVRV, while more time spent daily on Facebook was significantly associated with fewer experiences of OVRV. Active non-social use was significantly associated with more experiences of GOV and OIRV. Snapchat, TikTok, Twitter, and YouTube use, active social use, and passive use were not significantly associated with any categories of online victimization. We provide implications for researchers as well as mental and behavioral health practitioners seeking to enhance Black women’s safety and well-being on social media platforms.
Spontaneous Production Rates in Song and Speech
Authors: Coleman Nicole C. , Palmer Caroline , Pfordresher Peter Q.
Published: September 2024

Many everyday tasks appear to be performed at an optimal rate that differs between individuals but is consistent within individuals. These optimal rates are estimated using a participant's Spontaneous Production Rate (SPR), the rate at which an individual produces sequences of sounds in the absence of external tempo cues. A previous study that measured SPRs in speech and piano production found no association between SPRs across tasks, a result suggesting that domain-specific constraints determine optimal rates. The present study addressed whether this dissociation would remain when music and speech are produced with the same effector system: vocal production. Participants spoke short, well-known phrases and sang familiar children's songs on “da” to avoid memorization of words. SPRs were measured by the mean inter-onset interval (IOI) between successively produced syllables or tones and showed large individual differences. Results showed consistent SPRs within individuals within each domain (speaking or singing) as well as consistent SPRs across the speaking and singing conditions. These results align with theories of optimal rates based on energy efficiency arising from biomechanical constraints rather than domain-specific communication goals.
Rationale and Design of the Randomized COmparison of Methods for Pulmonary Blood Flow Augmentation: Shunt Versus Stent (COMPASS) Trial: A Pediatric Heart Network Study
Authors: Petit Christopher J. , Romano Jennifer C. , Zampi Jeffrey D. , Pasquali Sara K. , McCracken Courtney E. , Chanani Nikhil K. , Les Andrea S. , Burns Kristin M. , Crosby-Thompson Allison , Stylianou Mario , Kato Bernet , Glatz Andrew C. ,   for the Pediatric Heart Network Investigators
Published: September 2024

Neonates with congenital heart disease and ductal-dependent pulmonary blood flow (DD-PBF) require early intervention. Historically, this intervention was most often a surgical systemic-to-pulmonary shunt (SPS; eg, Blalock-Thomas-Taussig shunt). However, over the past two decades, an alternative to SPS has emerged in the form of transcatheter ductal artery stenting (DAS). While many reports have indicated safety and durability of the DAS approach, few studies compare outcomes between DAS and SPS. The reports that do exist are comprised primarily of small-cohort single-center reviews. Two multicenter retrospective studies suggest that DAS is associated with similar or superior survival compared with SPS. These studies offer the best evidence to-date, and yet both have important limitations. The authors describe herein the rationale and design of the COMPASS (COmparison of Methods for Pulmonary blood flow Augmentation: Shunt vs Stent [COMPASS]) Trial (NCT05268094, IDE G210212). The COMPASS Trial aims to randomize 236 neonates with DD-PBF to either DAS or SPS across approximately 27 pediatric centers in North America. The goal of this trial is to compare important clinical outcomes between DAS and SPS over the first year of life in a cohort of neonates balanced by randomization in order to assess whether one method of palliation demonstrates therapeutic superiority.
Sustainable Competitive Advantage in the Malaysian MLM Sector: The Interplay of Strategic Orientation and Adaptive Marketing Capability
Authors: Keong Lee Siew , Cheng Sheila , Dastane Omkar
Published: September 2024

A significant number of multilevel marketing (MLM) companies have perished with a high drop-out rate due to a lack of ability to sustain in Malaysia. Although, studies on sustainable competitive advantage (SCA) are abundant, there is still a dearth of research on how MLM companies raise their SCA, especially in the Malaysian environment. This research aims to study the possible effect of strategic orientation factors (market, technology, learning and intellectual capital orientation) on SCA mediated by adaptive marketing capability for MLM companies in Malaysia. A framework was proposed based on the foundations of key theories such as the resource-based view and dynamic capabilities. The top executives of MLM companies are surveyed to gather data. We received 102 responses, which we later examined. The study models and proposed hypotheses were evaluated using SmartPLS. The findings of this study demonstrate SCA’s importance as a direct influence on business performance. The difficulties regarding ability of management to combine the appropriate set of necessary resources and employ them effectively will determine how well Malaysian MLM enterprises can steer their resources and capabilities (strategic orientations) toward developing firm’s capability.
Automated Measurement of Speech Recognition, Reaction Time, and Speech Rate and Their Relation to Self-Reported Listening Effort for Normal-Hearing and Hearing-Impaired Listeners Using various Maskers
Authors: Holube Inga , Taesler Stefan , Ibelings Saskia , Hansen Martin , Ooster Jasper
Published: September 2024

In speech audiometry, the speech-recognition threshold (SRT) is usually established by adjusting the signal-to-noise ratio (SNR) until 50% of the words or sentences are repeated correctly. However, these conditions are rarely encountered in everyday situations. Therefore, for a group of 15 young participants with normal hearing and a group of 12 older participants with hearing impairment, speech-recognition scores were determined at SRT and at four higher SNRs using several stationary and fluctuating maskers. Participants’ verbal responses were recorded, and participants were asked to self-report their listening effort on a categorical scale (self-reported listening effort, SR-LE). The responses were analyzed using an Automatic Speech Recognizer (ASR) and compared to the results of a human examiner. An intraclass correlation coefficient of r = .993 for the agreement between their corresponding speech-recognition scores was observed. As expected, speech-recognition scores increased with increasing SNR and decreased with increasing SR-LE. However, differences between speech-recognition scores for fluctuating and stationary maskers were observed as a function of SNR, but not as a function of SR-LE. The verbal response time (VRT) and the response speech rate (RSR) of the listeners’ responses were measured using an ASR. The participants with hearing impairment showed significantly lower RSRs and higher VRTs compared to the participants with normal hearing. These differences may be attributed to differences in age, hearing, or both. With increasing SR-LE, VRT increased and RSR decreased. The results show the possibility of deriving a behavioral measure, VRT, measured directly from participants’ verbal responses during speech audiometry, as a proxy for SR-LE.
Developing a Physical Activity Program for Mothers and Their Children at Risk for Diabetes
Authors: Andreae Susan J. , Lindberg Anna , Casey Thomas , Pickett Kristen A.
Published: September 2024

Objective

Despite growing numbers of initiatives designed to address increasing diabetes prevalence in the U.S., the need remains for effective programs. Because family history is a diabetes risk factor, family focused programs may be a potential strategy to improve the health of the entire family. We present the development process and pretest results of a lifestyle change program for rural-dwelling mothers at risk for diabetes and their children.

Methods

We completed semistructured interviews with mothers ( N = 17) focusing on program content and activities. Findings informed program development by identifying specific barriers motivators and potential leverage points such as focusing on the intrinsic incentives of health activities. The resulting program was pretested with rural-dwelling mothers ( N = 5) who completed program activities with their families and provided feedback via semistructured interviews. All interviews were audio-recorded, transcribed, and analyzed using thematic analysis.

Results

While pretest results showed that the program was generally acceptable and feasible, feedback was used to further refine the program. The revised program consists of 8 group sessions with family focused content around physical activity, healthy eating, and making connections while engaging in health activities. Between sessions, mothers tracked the family goals, activity levels, and mood, and documented barriers to discuss during the sessions.

Conclusions

Our development process engaged intended program users to codesign a program that focuses on wellness and intrinsic incentives of engaging in health-enhancing activities as a family. By providing strategies to change behaviors as a family, this program aims to improve the mother's health while developing healthy habits in their children.
Bridging Visual-Spatial Ability and Skill Performance: The Impact of Perceived Quality of a Practical Seminar in Interventional Radiology Education
Authors: Bartels Jakob , Backhaus Joy , Kickuth Ralph , Fluck Friederika , Augustin Anne Marie , König Sarah
Published: September 2024

BACKGROUND

Medical education integrates skills training and simulation to prepare students for clinical tasks. A seminar on interventional radiology was restructured to include specific practical training utilizing a 3D-catheter model. We aimed to investigate the complex interplay between student evaluations, their visual-spatial ability and practical performance.

METHODS

The seminar comprised a short plenary introduction followed by 3 practical training units. Students were tested for their visual-spatial ability and their catheter insertion performance. Students rated the seminar and their interest in the subject. Data were subjected to descriptive, factorial, regression, and moderating analysis.

RESULTS

A total of 141 medical students enrolled in the seminar. They attributed a high didactic and practical quality and expressed great interest in the subject. Male students outperformed females in the cube perspective test. In the practical examination, males needed significantly less time on average (57.9 s) compared to females (73.1 s). However, there were no significant differences in the performance score, with a maximum of 5 attainable points: males 4.61 and females 4.51. The seminar evaluation explained a large portion of the variance (48.6%) in students’ interest in the subject. There was a moderating role of practical quality (β = 0.12, P < .05) on the link between the cube perspective test and the practical examination: rated high practical quality could partly compensate for low cube perspective scores, enhancing performance in the practical examination.

CONCLUSIONS

Well-designed practical courses and a perceived high teaching quality may assist students with deficits in visual-spatial ability to acquire clinical-practical skills. Such initiatives not only enhance learning outcomes across diverse student groups but also stimulate interest in specialized fields like interventional radiology, thereby potentially guiding future career paths in medicine.
National Registry for Childhood Onset Scleroderma I: Insights from the first 341 juvenile localized scleroderma patients
Authors: Branton Samantha A , Stubbs Leigh A , Havrilla Haley J , Torok Kathryn S
Published: September 2024

Objectives:

There is an under recognition of juvenile-onset localized scleroderma and its extracutaneous manifestations leading to delay in systemic treatment. Our study aims to address this gap by describing the demographics, presentation, associated family history, concurrent autoimmune disease, extracutaneous manifestations, laboratory evaluation, treatment, and course of disease in juvenile-onset localized scleroderma patients enrolled in the National Registry for Childhood Onset Scleroderma.

Methods:

Participants for this study were derived from the National Registry for Childhood Onset Scleroderma and included 341 patients with juvenile-onset localized scleroderma. Demographic, and prospectively collected outcome measures, such as the Localized Scleroderma Cutaneous Assessment Tool, physical exam findings, laboratory values, and patient-reported outcomes were reviewed.

Results:

Most patients were female (71%), Caucasian (94%), had a linear subtype (56%), and had the onset of disease at age 7.5 (±4.2) years, and diagnosis 1.9 (±2.6) years after symptom onset. Most patients experienced at least one extracutaneous manifestation (70%), most commonly musculoskeletal (57%), followed by neurological (46%), and ophthalmological (11%). Those with musculoskeletal extracutaneous manifestation have significantly abnormal inflammatory and antibody laboratory values. Of patients with 1-year follow-up, a majority were treated with systemic therapy and globally improved with significant reduction in both modified Localized Scleroderma Skin Index ( p < 0.001) and Localized Scleroderma Damage Index ( p = 0.001).

Conclusion:

The study highlights need for earlier recognition of juvenile-onset localized scleroderma after demonstrating the delay in diagnosis and frequent extracutaneous manifestations with significant disease burden in a juvenile-onset localized scleroderma cohort. The benefits of systemic treatment and full extracutaneous manifestation screening in juvenile-onset localized scleroderma is supported.
Banditry or Peasant Insurgency? Contextualizing and Analysing the Chuar Rebellion of Midnapore Under East India Company (1770s–1800)
Authors: Mukherjee Deblina
Published: September 2024

Midnapore was one among the first three districts ceded to the East India Company in 1760 by Mir Qasim, the other two being Burdwan and Chittagong. Following this, the acquisition of the diwani of Bengal, Bihar and Orissa in 1765 launched the East India Company into a complex administrative role related to revenue in an alien territory with complex, multi-tiered, customary land rights that were beyond their knowledge. Their attempts at revenue collection and the accompanying imposition of a legal, rational state on a customary framework led to tragedies like the Bengal famine of 1770. It served as the impetus for the initial uprisings against colonial rule, which mainstream accounts on resistances in the early colonial period tend to omit. The study here aims to shed light on the nature of rule transition and complexities regarding land ownership that the Company encountered, the special nature of Midnapore frontier, and phases of the chuar rebellion pre- and post Permanent Settlement. Special attention has been placed on conceptual clarification of chuars, paiks, their status overlaps and subalternity and on analysing the nature of the rebellion in the light of Eric Hobsbawm’s concept of banditry and Ranajit Guha’s analysis on features of peasant insurgency in colonial India.
Corporate purpose research: Streams and promises
Authors: Durand Rodolphe , Huynh Chang-Wa
Published: September 2024

In this editorial, we identify three approaches to corporate purpose that shed light on distinctive aspects of corporate purpose and organizational life. The statement-centric approach focuses on how purpose can send (or not) credible signals to specific audiences. The experience-based approach highlights the heterogeneity in firm members’ perceptions and understandings of corporate purpose. The decision-making approach proposes that corporate purpose alters decision-making within firms in predictable ways. This editorial contributes ideas for future empirical research. We believe current approaches to corporate purpose should both acknowledge their unique contributions and build on their methodological strengths in order to develop a meaningful understanding of organizations and provide concrete evidence of the impact of corporate purpose on organizational outcomes.
Limitations and potential strategies of immune checkpoint blockade in age-related neurodegenerative disorders
Authors: Lasheen Noha N. , Allam Salma , Elgarawany Abdullrahman , Aswa Darin W. , Mansour Rana , Farouk Ziad
Published: September 2024

Neurological disorders such as Alzheimer’s disease (AD), and Parkinson’s disease (PD) have no disease-modifying treatments, resulting in a global dementia crisis that affects more than 50 million people. Amyloid-beta (Aβ), tau, and alpha-synuclein (α-Syn) are three crucial proteins that are involved in the pathogenesis of these age-related neurodegenerative diseases. Only a few approved AD medications have been used in the clinic up to this point, and their results are only partial symptomatic alleviation for AD patients and cannot stop the progression of AD. Immunotherapies have attracted considerable interest as they target certain protein strains and conformations as well as promote clearance. Immunotherapies also have the potential to be neuroprotective: as they limit synaptic damage and spread of neuroinflammation by neutralizing extracellular protein aggregates. Lately, disease-modifying therapies (DMTs) that can alter the pathophysiology that underlies AD with anti-Aβ monoclonal antibodies (MAbs) (e.g., aducanumab, lecanemab, gantenerumab, donanemab, solanezumab, crenezumab, tilavonemab). Similarly, in Parkinson's disease (PD), DMTs utilizing anti-αSyn (MAbs) (e.g., prasinezumab, cinpanemab,) are progressively being developed and evaluated in clinical trials. These therapies are based on the hypothesis that both AD and PD may involve systemic impairments in cell-dependent clearance mechanisms of amyloid-beta (Aβ) and alpha-synuclein (αSyn), respectively, meaning the body's overall inability to effectively remove Aβ and αSyn due to malfunctioning cellular mechanisms. In this review we will provide possible evidence behind the use of immunotherapy with MAbs in AD and PD and highlight the recent clinical development landscape of anti-Aβ (MAbs) and anti-αSyn (MAbs) from these clinical trials in order to better investigate the therapeutic possibilities and adverse effects of these anti-Aβ and anti-αSyn MAbs on AD and PD.
Expression profiling of circulating lncRNA GIAT4RA, lncRNA AATBC, lncRNA Sirt1-AS, and SMARCB1 in lung cancer patients
Authors: Hussein Neveen A. , Ebied Samia A. , Belal Abdel Aziz M. , Ahmad Mohamad A. , Weheida El Sayed A.
Published: September 2024

Long noncoding RNAs (lncRNAs) are crucial regulators of biological processes such as transcription interference and activation, chromatin remodeling, and mRNA translation. Uncontrolled gene expression could result from various epigenetic modifiers, like lncRNAs. So, this study aimed to evaluate the expression profiles of lncRNA GIAT4RA, lncRNA AATBC, lncRNA Sirt1-AS, and SMARCB1 in lung cancer. The current study included lung cancer patients (n = 50), patients with chronic inflammatory diseases (n = 30), and healthy volunteers (n = 20). The expression of blood genes and the concentration of serum neuron-specific enolase were determined by real-time PCR and electrochemiluminescence immunoassay, respectively. The receiver operating characteristic and Kaplan-Meier analyses assess the sensitivity of genes as diagnostic and prognostic biomarkers, respectively. LncRNA GIAT4RA and lncRNA AATBC were upregulated, while lncRNA Sirt1-AS was significantly downregulated in all patients compared to the control group. SMARCB1 expression was significantly downregulated in chronic inflammatory patients, while in those with lung cancer, it showed an insignificant difference. The expression of lncRNA GIAT4RA and lncRNA AATBC was significantly related to the stage of lung cancer. The survival analyses showed that lower lncRNA Sirt1-AS was linked to lung cancer patients’ poorer disease-free survival and overall survival. Differences in lncRNA GIAT4RA, lncRNA AATBC, and lncRNA Sirt1-AS expression were detected in all patients. The consequent abnormal expression of lncRNAs could be crucial in lung cancer development. LncRNA GIAT4RA, lncRNA AATBC, and lncRNA Sirt1-AS may be utilized as promising diagnostic biomarkers. LncRNA AATBC, lncRNA Sirt1-AS, and SMARCB1 may be valuable prognostic biomarkers for lung cancer.
Multicenter exploration of specialist palliative care in patients with left ventricular assist devices – a retrospective study
Authors: Tenge Theresa , Shahinzad Shaylin , Meier Stefan , Schallenburger Manuela , Batzler Yann-Nicolas , Schwartz Jacqueline , Coym Anja , Rosenbruch Johannes , Tewes Mitra , Simon Steffen T. , Roch Carmen , Hiby Ute , Jung Christian , Boeken Udo , Gaertner Jan , Neukirchen Martin
Published: September 2024

Background

The number of advanced heart failure patients with left ventricular assist devices (LVAD) is increasing. Despite guideline-recommendations, little is known about specialist palliative care involvement in LVAD-patients, especially in Europe. This study aims to investigate timing and setting of specialist palliative care in LVAD-patients.

Methods

We conducted a retrospective multicenter study in 2022. Specialist palliative care services in German LVAD-centers were identified and invited to participate. Forty adult LVAD-patients (mean age 65 years (SD 7.9), 90% male) from seven centers that received a specialist palliative care consultation during hospitalization were included.

Results

In 37 (67.3%) of the 55 LVAD-centers, specialist palliative care was available. The median duration between LVAD-implantation and first specialist palliative care contact was 17 months (IQR 6.3–50.3 months). Median duration between consultation and death was seven days (IQR 3–28 days). 65% of consults took place in an intensive/intermediate care unit with half of the patients having a Do-Not-Resuscitate order. Care planning significantly increased during involvement (advance directives before: n = 15, after: n = 19, p < 0.001; DNR before: n = 20, after: n = 28, p < 0.001). Symptom burden as assessed at first specialist palliative care contact was higher compared to the consultation requests (request: median 3 symptoms (IQR 3–6); first contact: median 9 (IQR 6–10); p < 0.001) with a focus on weakness, anxiety, overburdening of next-of-kin and dyspnea. More than 70% of patients died during index hospitalization, one third of these in a palliative care unit.

Conclusions

This largest European multicenter investigation of LVAD-patients receiving specialist palliative care shows a late integration and high physical and psychosocial symptom burden. This study highlights the urgent need for earlier integration to identify and address poorly controlled symptoms. Further studies and educational efforts are needed to close the gap between guideline-recommendations and the current status quo.
Anatomical, histological, and scanning electron microscopic features of the esophagus and crop in young and adult domestic pigeons (Columba livia Domestica)
Authors: Mahdy Mohamed A. A. , Mohammed Elsayed S. I.
Published: September 2024

Background

Pigeons (Columba livia) are mainly raised as a source of animal protein, racing, leisure and as an experimental animal. The present study investigated the morphology of the esophagus in the young and adult domestic pigeon, Columba livia domestica.

Methods

Ten young and ten adult, normal, and healthy pigeons were collected from the local breeders. Samples from different parts of esophagus and crop were examined grossly, by stereomicroscopy, scanning and light microscopy.

Results

The esophagus consisted of a long cervical part, a crop, and a short thoracic part. The crop was represented by a thin-walled outpouching with two lateral diverticula. The mucosa presented wavy fine folds in the cervical esophagus, irregular folds in the lateral diverticula giving it a corrugated appearance, and prominent longitudinal folds with several gland openings in the middle and lower parts of the crop, as well as in the thoracic esophagus. The density of gland openings was higher in adult pigeons than that in young pigeons. The mucosa of the esophagus was lined by non-keratinized stratified squamous epithelium. The shape, height, and branching of the mucosal folds differed between young and adult pigeons. Mucous-secreting alveoli were detected in the middle part of the crop as well as in the thoracic esophagus, but not in the cervical esophagus or lateral diverticula of the crop.

Conclusion

The variations between the young and adult pigeons suggest a functional adaptation of adult pigeons to their diet compared to young pigeons.
Toxic epidermal necrolysis following heart transplantation may caused by cefoperazone sodium and sulbactam sodium
Authors: Xiaodong Zeng , Min Wu , Liming Lei , Jinsong Huang , Xiao Qi , Yuemei Liang , Yijin Wu
Published: September 2024

Background

The outcome of heart transplantation is significantly affected by perioperative infections. Individualised immunosuppression strategies are essential to reduce the risk of such infections.

Case presentation

We report the successful management of a 56-year-old male patient diagnosed with dilated cardiomyopathy who underwent heart transplantation. During the perioperative period, the patient was prescribed cefoperazone sodium and sulbactam sodium, which induced a severe skin reaction: toxic epidermal necrolysis (TEN). The patient was treated with prednisone, immunoglobulins, etanercept, and other active immunomodulatory measures, together with an individualised anti-rejection regimen and physical therapy. The systemic rash resolved within a month, and the patient was successfully discharged after surgery.

Conclusion

Effective management of heart transplantation necessitates balancing immunosuppression and infection prevention. Individualised immunosuppressive strategies are critical for optimal clinical outcomes.
Economic burden and health-related quality of life in patients with epidermolysis bullosa in Spain
Authors: Aranda-Reneo Isaac , Oliva-Moreno Juan , Peña-Longobardo Luz María , Villar-Hernández Álvaro Rafael , López-Bastida Julio
Published: September 2024

Background

. Epidermolysis bullosa (EB) is a rare genetic skin disorder characterized by fragility of skin with appearance of acute and chronic wounds. The aim of this study was to determine the economic burden and the health-related quality of life (HRQoL) of patients with epidermolysis bullosa (EB) in Spain from a societal perspective.

Methods

. We conducted a cross-sectional, retrospective study including 62 patients with EB (62% dystrophic, 9.6% junctional, 3.2% Kindler syndrome, and 26% with simplex EB). Data were collected from questionnaires completed by patients or their caregivers. The costs were estimated, including not only direct healthcare costs but also direct non-healthcare costs and productivity losses. We compared severe EB (Dystrophic, Junctional EB and Kindler syndrome) to non-severe EB (simplex EB) using as reference year 2022. HRQoL was measured by generic (EQ-5D) and specific (QoLEB) questionnaires.

Results

The average annual cost for an EB patient was €31,352. Direct healthcare costs represented 17.2% of the total cost, direct non-healthcare costs (mainly informal care costs) 71.3% and productivity losses 11.5% of the total cost. Participants in the severe EB group had a slightly higher average cost than participants in the non-severe EB group (€31,706 vs. €30,337). Direct healthcare costs and non-healthcare costs were higher in the severe EB group (€6,205 vs. €3,024 and €23,148 vs. €20,113) while productivity losses were higher in the non-severe EB group (€7,200 vs. €2,353). The mean utility index score, where the maximum value possible is one, was 0.45 for patients with severe EB (0.76 for their caregivers) and 0.62 for those with non-severe EB (0.77 for their caregivers).

Conclusions

. The social economic burden of EB, resulting from the high direct non-healthcare cost of informal care, and from the loss of productivity, accentuates the importance of not restricting cost analysis to direct healthcare costs. This substantiates that EB, particularly severe EB represents a significant hidden cost that should be revealed to society and should be considered in the support programmes for people who suffer from this disease, and in the economic evaluation of new treatments.
Redefining the phenotype of alpha-methylacyl-CoA racemase (AMACR) deficiency
Authors: Klouwer Femke C.C. , Roosendaal Stefan D. , Hollak Carla E. M. , Langeveld Mirjam , Poll-The Bwee Tien , Sorge Arlette J. van , Wolf Nicole I. , Knaap Marjo S. van der , Engelen Marc
Published: September 2024

Background

Alpha-methylacyl-CoA racemase (AMACR) deficiency is a rare peroxisomal enzyme deficiency caused by biallelic variants in the AMACR gene. This deficiency leads to the accumulation of toxic bile acid intermediates (R)-trihydroxycholestenoic acid (THCA) and (R)-dihydroxycholestenoic acid (DHCA) and pristanic acid. With less than 20 patients described in literature, the phenotype of AMACR deficiency is poorly defined and no data on the natural history are available.

Results

Here we describe a cohort of 12 patients (9 adults and 3 children) with genetically confirmed AMACR deficiency (median age at diagnosis 56 years, range 3–69), followed for an average of 6 years (between 2015 and 2023). Five novel pathogenic variants are described. In 5/9 adult patients, retinitis pigmentosa was detected at a median age of 45 years (range 30–61). The median delay to diagnosis of AMACR deficiency after the diagnosis of retinitis pigmentosa was 24 years (range 0–33). All adult patients subsequently developed neurological signs and symptoms after the age of 40 years; most frequently neuropathy, ataxia and cognitive decline with prior normal cognitive functioning. One patient presented with a stroke-like episode. All adult patients showed a typical MRI pattern involving the thalami and gray matter structures of the pons and midbrain. One patient had a hepatocellular carcinoma at the time of the AMACR deficiency diagnosis and two patients suffered from gallstones. All three included children had elevated liver transaminases as single presenting sign and showed no brain MRI abnormalities.

Conclusion

AMACR deficiency can be considered as an adult slowly progressive disease with a predominant neurological phenotype. The main signs comprise retinitis pigmentosa, neuropathy, ataxia and cognitive decline; stroke-like episodes may occur. Recognition of typical MRI abnormalities may facilitate prompt diagnosis. In addition, there is a risk of liver fibrosis/cirrhosis and hepatocellular carcinoma in these patients, requiring active monitoring.
What the textbooks don’t teach about the reality of running a digitally enabled health study: a phenomenological interview study
Authors: Bradway Meghan , Garbarron Elia , Larbi Dillys , Breivik Elin , Muzny Miroslav , Årsand Eirik
Published: September 2024

Background

Most studies do not produce their intended outcomes on time or within budget. However, it is challenging to identify the facilitators and barriers to successful study management when the “behind the scenes action” of especially digitally enabled health research studies are akin to a black box. Therefore, it is necessary to explore first-hand experience of the facilitators and barriers to managing digitally enabled health studies. The goal of such studies is to produce new knowledge and/or develop tools that can be translated to real-world benefits for the health and care sector, individuals, and other stakeholders. These studies now exist in a time that encourages collaborative research activities with interdisciplinary research partnerships, industry collaboration, end-user involvement and insights for policy. These expectations require teams with different work cultures, methodologies, technologies, and approaches to work together, resulting in significant benefits but also challenges.

Objectives

To explore the relationship between the dynamics and needs of research teams and the technology used to manage digitally enabled studies through the experience of those who worked on such studies.

Methods

We used an interpretive phenomenological approach to explore research team members’ experiences and perceptions of study management in the field of digitally enabled health research. We interviewed 15 research team members from eight studies. A semi-structured interview guide was used to explore concepts related to study activity management, team dynamics, resources and technologies used to manage research activities, and reflections of personal experiences. An adductive thematic analysis was performed on the transcripts.

Results

Five main themes were identified: 1) Project Team, 2) Study management, which included management technologies, 3) Study plan, 4) Intervention, 5) Participants. This paper focuses on the first two main themes. Sub-themes included: Roles and responsibilities, Methods, Changes, Challenges and solutions and Expectations vs. reality. Sub-themes were applicable to all main themes. Therefore, results were presented as knowledge gained from the interaction between sub-themes within each theme, i.e. referred to as “comprehensive insights” in the results section of this paper.

Conclusion

This interview study provides new knowledge about the realities of working in collaborative, digitally enabled health research studies and demonstrates several opportunities for improved understanding of study management. More realistic and thorough understanding of the complex system in which digitally enabled health research exists can be applied to better prepare experienced researchers and newly graduated students entering the field, as well as improve existing strategies for management.
Examining How Student Identities Interact with an Immersive Field Ecology Course and its Implications for Graduate School Education
Authors: Saha Sriparna , McKenzie Valerie , Emery Nancy , Resasco Julian , Taylor Scott , Krishnan Sandhya , Corwin Lisa
Published: September 2024

A central issues in ecology is the underrepresentation of individuals from diverse backgrounds. Using the Phenomenological Variant Ecological Systems Theory, we present findings from the evaluation of a field-based graduate training program. Three cases describe different students belonging outcomes, providing critical constructive perspectives.
Long-term impacts of bush/wildfires on mental health: preparing for the next fire
Authors: Palinkas Lawrence A.
Published: September 2024

Climate change is responsible for marked increases in the frequency and severity of bush/wildfires, resulting in more people exposed to such events with long-term subclinical psychiatric symptoms. This editorial calls for immediate action to implement comprehensive and novel approaches to treating these conditions and preventing them from developing into more severe disorders.
Racism in psychiatry and the case of presentism
Authors: Arya Rina
Published: September 2024

Acknowledging the impact of imperialist and colonialist attitudes on the development of psychiatry allows for the recovery of the work of practitioners whose contribution may have been overlooked, as well as recognising racist attitudes in predominant thinking. These combined approaches aid in the construction of a more complete critical history.
Artificial intelligence and cybercrime: implications for individuals and the healthcare sector
Authors: Monteith Scott , Glenn Tasha , Geddes John R. , Achtyes Eric D. , Whybrow Peter C. , Bauer Michael
Published: September 2024

The malicious use of artificial intelligence is growing rapidly, creating major security threats for individuals and the healthcare sector. Individuals with mental illness may be especially vulnerable. Healthcare provider data are a prime target for cybercriminals. There is a need to improve cybersecurity to detect and prevent cyberattacks against individuals and the healthcare sector, including the use of artificial intelligence predictive tools.
The interface of autism and (borderline) personality disorder
Authors: Zavlis Orestis , Tyrer Peter
Published: September 2024

Prominent clinical perspectives posit that the interface of autism and (borderline) personality disorder manifests as either a misdiagnosis of the former as the latter or a comorbidity of both. In this editorial, we integrate these disparate viewpoints by arguing that personality difficulties are inherent to the autistic spectrum.
Evolutionary theory can advance and revitalise the biopsychosocial model
Authors: Abed Riadh , Hunt Adam , St John-Smith Paul
Published: September 2024

The biopsychosocial model remains a key paradigm for healthcare, despite widely recognised scientific and philosophical shortcomings. Here we report on recent updates integrating evolutionary theory with the biopsychosocial model to provide a more comprehensive and scientifically complete approach to understanding the multiple relevant levels of causation of medical and psychiatric problems.
Influence of magnetosphere disturbances on particle fluxes measured by ground-based detectors
Authors: Chilingarian A. , Karapetyan T. , Sargsyan B. , Asatryan K. , Gabaryan G.
Published: September 2024

This study examines how the Earth's surface particle fluxes are modulated by the interplanetary magnetic field (IMF) carried by coronal mass ejections (ICME). Our findings underscore the role of magnetic reconnection in allowing low-energy galactic cosmic rays (GCRs) to penetrate the magnetosphere, leading to enhanced secondary particle fluxes through reduced cutoff rigidity —a phenomenon known as the magnetospheric effect (ME). In contrast, the Forbush decrease (FD) driven by the scalar magnetic field strength results in significant particle flux reductions. On May 10–11, 2024, the FD, directly linked to the enormous geomagnetic storm (GMS), was complicated by the simultaneous registration of secondary particles from the solar energetic particle (SEP) event, which was energetic enough to generate secondary particles in space and on the ground, leading to increases in detector count rates, known as ground-level enhancements (GLEs). Using new experimental facilities, we reveal that secondary particles during ME events release up to 10 MeV energy (maximum energy of approximately 10 MeV), whereas, during FD and GLE events, the energy release extends to 100 MeV (maximum energy of approximately 100 MeV). These insights contribute to refining event classification schemes and predictive models of space weather.
Obesity Is Associated With Hyperandrogenemia in a Nationally Representative Sample of US Girls Aged 6 to 18 Years
Authors: Kim Su Hee , Pannone Aaron F , DeBoer Mark D , McCartney Christopher R , Burt Solorzano Christine M
Published: September 2024

Context

Studies have associated obesity with peripubertal hyperandrogenemia. However, these studies were performed in academic centers and could have been influenced by selection bias.

Objective

To investigate if free testosterone levels are elevated in peripubertal girls with obesity.

Design/Setting

We analyzed data from the National Health and Nutrition Examination Survey 2013-2016 databases.

Participants

1299 girls aged 6-18 years residing in the United States.

Main Outcome Measures

Mean free testosterone concentration (calculated from total testosterone and SHBG).

Results

Among girls aged 6 to 9 years, mean (95% confidence interval) free testosterone was 0.33 pg/mL (0.28-0.38) in healthy-weight girls vs 0.86 pg/mL (0.67-1.05) in girls with obesity. Among girls aged 10 to 14 years, free testosterone was 2.29 pg/mL (2.05-2.53) in healthy-weight girls vs 4.10 pg/mL (3.60-4.60) in girls with obesity. Among girls aged 15 to 18 years, free testosterone was 3.33 pg/mL (2.96-3.70) in healthy-weight girls and 5.64 pg/mL (4.93-6.36) in girls with obesity. Girls with obesity in all age groups had higher free testosterone levels compared to healthy-weight girls. In each age group, the 95% confidence intervals for free testosterone did not overlap between healthy weight vs obesity subgroups. A multiple regression model accounted for 42% of the variance in free testosterone (R2 = 0.42), and both weight and age categories were independent predictors of free testosterone (P < .0001 for each).

Conclusion

In a nationally representative sample of US girls, obesity is associated with elevated free testosterone, suggesting an important relationship between obesity and peripubertal hyperandrogenemia.
Sex-Specific Cardiovascular Risk Factors and Treatment in Females With T2DM and CVD: Developments and Knowledge Gaps
Authors: LeBlanc Erin S , Brooks Neon , Davies Melinda , Chatterjee Ranee
Published: September 2024

Purpose

There are large disparities in the impact of diabetes on cardiovascular disease (CVD) risk and outcomes by sex and gender. Achieving health equity requires understanding risks and medication efficacy in female patients, especially now, as novel pharmacologic treatments are transforming the diabetes and CVD treatment landscape. This review examines 2 bodies of research that can inform sex differences in CVD in patients with diabetes: female-specific risk factors for CVD and sex-related limitations of clinical trial research in evaluating novel diabetes and CVD treatments.

Methods

Two literature searches were performed using Ovid Medline(R) All. The first retrieved manuscripts covering sex and gender differences related to CVD risk and therapies and diabetes. The second focused on randomized controlled trial data on sex/gender differences and GLP-1/SGLT-2/DPP-4 drugs.

Results

Female-specific risk factors for CVD include early menarche, premature or early menopause, irregular cycles and polycystic ovary syndrome; pregnancy; adverse pregnancy outcomes; history of breast cancer; and autoimmune diseases. Clinical trials of novel pharmacological treatments for diabetes and CVD have undersampled female populations, and clinical characteristics of male and female participants have differed significantly. Thus, evidence to evaluate potential sex differences in treatment efficacy and side effects has been lacking.

Conclusion

To improve health of female patients with diabetes, sex-specific cardiovascular risk factors should be taken into account in screening and treatment decisions. Further, studies of cardiovascular and diabetes medications must ensure adequate representation by sex and report participant characteristics and outcomes by sex.
Progressive 11β-Hydroxysteroid Dehydrogenase Type 2 Insufficiency as Kidney Function Declines
Authors: Uslar Thomas , Newman Andrew J , Tapia-Castillo Alejandra , Carvajal Cristian A , Fardella Carlos E , Allende Fidel , Solari Sandra , Tsai Laura C , Milks Julia , Cherney Michael , Stouffer David G , Auchus Richard , Brown Jenifer M , Baudrand René , Vaidya Anand
Published: September 2024

Background

It has been postulated that chronic kidney disease (CKD) is a state of relative 11β-hydroxysteroid dehydrogenase type 2 (11βHSD2) insufficiency, resulting in increased cortisol-mediated mineralocorticoid receptor (MR) activation. We hypothesized that relative 11βHSD2 insufficiency manifests across a wide spectrum of progressively declining kidney function, including within the normal range.

Methods

Adult participants were recruited at 2 academic centers. A discovery cohort (n = 500) enrolled individuals with estimated glomerular filtration rate (eGFR) ranging from normal to CKD stage 5, in whom serum cortisol-to-cortisone (F/E) was measured as a biomarker of 11βHSD2 activity. A validation cohort (n = 101) enrolled only individuals with normal kidney function (eGFR ≥ 60 mL/min/1.73 m2) in whom 11βHSD2 activity was assessed via serum F/E and 11-hydroxy-to-11-keto androgen (11OH/K) ratios following multiple maneuvers: oral sodium suppression test, dexamethasone suppression test (DST), and ACTH-stimulation test (ACTHstim).

Results

In the discovery cohort, lower eGFR was associated with higher F/E (P-trend < .001). Similarly, in the validation cohort, with normal eGFR, an inverse association between eGFR and both F/E and 11OH/K ratios was observed (P-trend < .01), which persisted following DST (P-trend < .001) and ACTHstim (P-trend < .05). The fractional excretion of potassium, a marker of renal MR activity, was higher with higher F/E (P-trend < .01) and with lower eGFR (P-trend < .0001).

Conclusion

A continuum of declining 11βHSD2 activity was observed with progressively lower eGFR in individuals spanning a wide spectrum of kidney function, including those with apparently normal kidney function. These findings implicate cortisol-mediated MR activation in the pathophysiology of hypertension and cardiovascular disease in CKD.