bluuebunny/crossref_metadata_2025_split huggingface dataset:
Case report: Genotype and phenotype of DYNC1H1-related malformations of cortical development: a case report and literature review
Authors: Ge Wen-Rong , Fu Pei-Pei , Zhang Wei-Na , Zhang Bo , Ding Ying-Xue , Yang Guang 
Published: April 2023

BackgroundMutations in the dynein cytoplasmic 1 heavy chain 1 (DYNC1H1) gene are linked to malformations of cortical development (MCD), which may be accompanied by central nervous system (CNS) manifestations. Here, we present the case of a patient with MCD harboring a variant of DYNC1H1 and review the relevant literature to explore genotype-phenotype relationships.Case presentationA girl having infantile spasms, was unsuccessfully administered multiple antiseizure medications and developed drug-resistant epilepsy. Brain magnetic resonance imaging (MRI) at 14 months-of-age revealed pachygyria. At 4 years-of-age, the patient exhibited severe developmental delay and mental retardation. A de novo heterozygous mutation (p.Arg292Trp) in the DYNC1H1 gene was identified. A search of multiple databases, including PubMed and Embase, using the search strategy DYNC1H1 AND [malformations of cortical development OR seizure OR intellectual OR clinical symptoms] up to June 2022, identified 129 patients from 43 studies (including the case presented herein). A review of these cases showed that patients with DYNC1H1-related MCD had higher risks of epilepsy (odds ratio [OR] = 33.67, 95% confidence interval [CI] = 11.59, 97.84) and intellectual disability/developmental delay (OR = 52.64, 95% CI = 16.27, 170.38). Patients with the variants in the regions encoding the protein stalk or microtubule-binding domain had the most prevalence of MCD (95%).ConclusionMCD, particularly pachygyria, is a common neurodevelopmental disorder in patients with DYNC1H1 mutations. Literature searches reveales that most (95%) patients who carried mutations in the protein stalk or microtubule binding domains exhibited DYNC1H1-related MCD, whereas almost two-thirds of patients (63%) who carried mutations in the tail domain did not display MCD. Patients with DYNC1H1 mutations may experience central nervous system (CNS) manifestations due to MCD.
Serum 25-hydroxyvitamin D as a predictive biomarker of clinical outcomes in patients with primary membranous nephropathy
Authors: Duan Suyan , Chen Si , Lu Fang , Zhou Meng , Jiang Ling , Chen Chen , Geng Luhan , Sun Rui , Xu Yili , Huang Zhimin , Zhang Chengning , Zhang Bo , Mao Huijuan , Xing Changying , Yuan Yanggang 
Published: April 2023

BackgroundPrimary membranous nephropathy (PMN) is an immune-related disease with increased morbidity and the most common cause of adult nephrotic syndrome (NS). The serum 25-hydroxyvitamin D [25(OH)D)], a biomarker of vitamin D (VD) status, tends to decline in patients with kidney disease. However, the relationship between 25(OH)D and PMN is still unclear. Therefore, this study aims to clarify the association between 25(OH)D and disease severity and therapy response of PMN.MethodsA total of 490 participants diagnosed with PMN by biopsy from January 2017 to April 2022 were recruited at the First Affiliated Hospital of Nanjing Medical University. The correlations between baseline 25(OH)D and manifestations of nephrotic syndrome (NS) or seropositivity of anti-PLA2R Ab were confirmed by univariate and multivariate logistic analyses. Spearman’s correlations were used to examine the associations between baseline 25(OH)D and other clinical parameters. In the follow-up cohort, Kaplan-Meier analysis was used to assess remission outcomes among groups with low, medium, and high levels of 25(OH)D. Furthermore, the independent risk factors for non-remission (NR) were explored by COX regression analysis.ResultsAt baseline, 25(OH)D was negatively related to 24-h urinary protein and serum anti-PLA2R Ab. The lower level of baseline 25(OH)D was associated with an increased risk for the incidence of NS in PMN (model 2, OR 6.8, 95% CI 4.4, 10.7, P &lt; 0.001) and seropositivity of anti-PLA2R Ab (model 2, OR 2.4, 95% CI 1.6, 3.7, P &lt; 0.001). Furthermore, the lower level of 25(OH)D during follow-up was demonstrated as an independent risk factor for NR even after adjusting age, gender, MBP, 24 h UP, serum anti-PLA2R Ab, serum albumin, and serum C3 [25(OH)D (39.2–62.3 nmol/L): HR 4.90, 95% CI 1.02, 23.53 P = 0.047; 25(OH)D &lt; 39.2 nmol/L: HR 17.52, 95% CI 4.04, 76.03 P &lt; 0.001); vs. 25(OH)D ≥ 62.3 nmol/L]. The Kaplan-Meier survival analysis also demonstrated that the higher level of follow-up 25(OH)D had a higher possibility of remission than the lower one (log-rank test, P &lt; 0.001).ConclusionBaseline 25(OH)D was significantly correlated with nephrotic proteinuria and seropositivity of anti-PLA2R Ab in PMN. As an independent risk factor for NR, a low level of 25(OH)D during follow-up might serve as a prognostic tool for sensitively identifying cases with a high probability of poor treatment response.
Imaging biomarkers associated with extra-axial intracranial tumors: a systematic review
Authors: Wijethilake Navodini , MacCormac Oscar , Vercauteren Tom , Shapey Jonathan 
Published: April 2023

Extra-axial brain tumors are extra-cerebral tumors and are usually benign. The choice of treatment for extra-axial tumors is often dependent on the growth of the tumor, and imaging plays a significant role in monitoring growth and clinical decision-making. This motivates the investigation of imaging biomarkers for these tumors that may be incorporated into clinical workflows to inform treatment decisions. The databases from Pubmed, Web of Science, Embase, and Medline were searched from 1 January 2000 to 7 March 2022, to systematically identify relevant publications in this area. All studies that used an imaging tool and found an association with a growth-related factor, including molecular markers, grade, survival, growth/progression, recurrence, and treatment outcomes, were included in this review. We included 42 studies, comprising 22 studies (50%) of patients with meningioma; 17 studies (38.6%) of patients with pituitary tumors; three studies (6.8%) of patients with vestibular schwannomas; and two studies (4.5%) of patients with solitary fibrous tumors. The included studies were explicitly and narratively analyzed according to tumor type and imaging tool. The risk of bias and concerns regarding applicability were assessed using QUADAS-2. Most studies (41/44) used statistics-based analysis methods, and a small number of studies (3/44) used machine learning. Our review highlights an opportunity for future work to focus on machine learning-based deep feature identification as biomarkers, combining various feature classes such as size, shape, and intensity.Systematic Review Registration: PROSPERO, CRD42022306922
Carfilzomib, lenalidomide, and dexamethasone in relapsed refractory multiple myeloma: a prospective real-life experience of the Regional Tuscan Myeloma Network
Authors: Antonioli Elisabetta , Pilerci Sofia , Attucci Irene , Buda Gabriele , Gozzetti Alessandro , Candi Veronica , Simonetti Federico , Giudice Maria Livia Del , Ciofini Sara , Staderini Michela , Grammatico Sara , Buzzichelli Alessandra , Messeri Maria , Bocchia Monica , Galimberti Sara , Vannucchi Alessandro M. 
Published: April 2023

IntroductionCarfilzomib, a potent, irreversible, selective proteasome inhibitor has demonstrated consistent results in relapsed/refractory multiple myeloma (RRMM) combined with lenalidomide and dexamethasone (KRd). No prospective studies are yet available that analyzed the efficacy of the KRd combination.MethodsHerein, we report a multicenter prospective observational study on 85 patients who were treated with KRd combination as the second or third line of treatment, according to standard practice.ResultsThe median age was 61 years; high-risk cytogenetic was found in 26% and renal impairment (estimated glomerular filtration rate (eGFR) &lt;60 ml/min) in 17%. After a median follow-up of 40 months, patients received a median number of 16 cycles of KRd, with a median duration of treatment (DoT) of 18 months (range, 16.1–19.2 months). The overall response rate was 95%, with a high-quality response (≥very good partial remission [VGPR]) in 57% of the patients. The median progression-free survival (PFS) was 36 months (range, 29.1–43.2 months). Achievement of at least VGPR and a previous autologous stem cell transplantation (ASCT) were associated with longer PFS. The median overall survival (OS) was not reached (NR); the 5-year OS rate was 73%. Nineteen patients underwent KRd treatment as a bridge to autologous transplantation, obtaining a post-transplant minimal residual disease (MRD) negativity in 65% of cases. The most common adverse events were hematological, followed by infection and cardiovascular events, rarely G3 or higher, with a discontinuation rate for toxicities of 6%. Our data confirmed the feasibility and safety of the KRd regimen in real life.
Adverse events in the treatment of spinal muscular atrophy in children and adolescents with nusinersen: A systematic review and meta-analysis
Authors: Zhong Zhi-Juan , Zheng Pi-Mei , Dou Hui-Hong , Wang Ji-Gan 
Published: April 2023

ObjectivesTo systematically analyze adverse events (AEs) in treatment of spinal muscular atrophy (SMA) with Nusinersen in children and adolescents.MethodsThe study is registered on PROSPERO (CRD42022345589). Databases were searched and literature relating to Nusinersen in the treatment of spinal muscular atrophy in children from the start of database establishment to December 1, 2022, was retrospectively analyzed. R.3.6.3 statistical software was used, and random effects meta-analysis was performed to calculate weighted mean prevalence and 95% confidence intervals (CI).ResultsIn total, 15 eligible studies were included, with a total of 967 children. Rate of definite Nusinersen-related AEs was 0.57% (95% CI: 0%–3.97%), and probable Nusinersen-related AEs 7.76% (95% CI: 1.85%–17.22%). Overall rate of AEs was 83.51% (95% CI: 73.55%–93.46%), and serious AEs 33.04% (95% CI: 18.15%–49.91%). For main specific AEs, fever was most common, 40.07% (95% CI: 25.14%–56.02%), followed by upper respiratory tract infection 39.94% (95% CI: 29.43%–50.94%), and pneumonia 26.62% (95% CI: 17.99%–36.25%).The difference in overall AE rates between the two groups (Nusinersen group and placebo group) was significant (OR = 0.27,95% CI: 0.08–0.95, P = 0.042). Moreover, incidence of serious adverse events, and fatal adverse events were both significantly lower than in the placebo group (OR = 0.47, 95%CI: 0.32–0.69, P &lt; 0.01), and (OR = 0.37, 95%CI: 0.23–0.59, P &lt; 0.01), respectively.ConclusionNusinersen direct adverse events are rare, and it can effectively reduces common, serious, and fatal adverse events in children and adolescents with spinal muscular atrophy.
Essential headaches in developmental age: What is changed before, during and after the lockdown for COVID-19 pandemic. Clinical study
Authors: Bonuccelli Alice , Depietri Greta , Baldaccini Tommaso , Ricciutelli Irene , Peroni Diego , Spalice Alberto , Massimetti Gabriele , Morganti Riccardo , Orsini Alessandro , Striano Pasquale 
Published: April 2023

IntroductionEssential headache is one of the main causes of pain in children, and has an important impact on their quality of life. In children with essential headaches play an important role in both triggers like stress, excessive use of video terminals, or physical fatigue but also comorbidities like anxiety, depression, and sleep disturbances. CoViD-19 Pandemic was very stressful, especially for children, and amplified all headache triggers and comorbidities.Study objectiveIn this work, we studied the aspects concerning the headache,lifestyle, habits, and mental health of children before, during, and after the lockdown and the differences between some categories (selected by age, gender, and headache status before the lockdown).MethodsThis study was conducted on 90 patients with primary headaches followed at the AOUP Neuropediatrics Clinic from January 2018 to March 2022. Participants answered a questionnaire of 21 questions. For every question, the answer was divided into three periods: before, during, or after the lockdown. All dates have been converted and inserted into a database and we used SPSS technology for statistical analysis.ResultsIn our study, 51,1% were females and 48,9% were males and there was a prevalence of adolescents (56,7%) compared to children from 5 to 11 years (43,3%). Regarding the headache onset, 77,7% of patients started to suffer from headaches before 10 years, moreover, 68,9% had familiarity with the headache. Using Cohen's K- Concordance Test, we performed a Concordance Analysis, studying the questions in the three periods above mentioned: considering headache characteristics there is poor concordance about the trend of headache; modest concordance (K: 0,2–0,4) about the frequency and the type (migraine or tension headache); moderate concordance (K: 0,41–0,61) about the acute use of analgesic. Analyzing lifestyle the lockdown had a significant impact on sports (practiced much less) and on the use of video terminals (used much more).ConclusionThe pandemic and lockdown aren't events that led to strong and unidirectional responses in patients, there is great variability in the answers about headache, lifestyle, and psychology, and each patient had individualized reactions. However, these considerations are not applied to physical activity and the use of video terminals, because both have been inevitably modified by the pandemic situations and so were not affected by subjective influence.
Trends and characteristics of COVID-19 and cardiovascular disease related studies
Authors: Cheng Ao , Ren Honghao , Ma Zeyao , Alam Naqash , Jia Linying , Liu Enqi 
Published: April 2023

Introduction: The new coronavirus has caused a pandemic that has infected hundreds of millions of people around the world since its outbreak. But the cardiovascular damage caused by the new coronavirus is unknown. We have analyzed the current global scenario and the general pattern of growth. After summarizing the known relationship between cardiovascular diseases and new coronary pneumonia, relevant articles are analyzed through bibliometrics and visualization.Methods: Following our pre-designed search strategy, we selected publications on COVID-19 and cardiovascular disease in the Web of Science database. In our relevant bibliometric visualization analysis, a total of 7,028 related articles in the WOS core database up to 20th October 2022 were summarized, and the most prolific authors, the most prolific countries, and the journals and institutions that published the most articles were summarized and quantitatively analyzed.Results: SARS-CoV-2 is more infectious than SARS-CoV-1 and has significant involvement in the cardiovascular system in addition to pulmonary manifestations, with a difference of 10.16% (20.26%/10.10%) in the incidence of cardiovascular diseases. The number of cases increases in winter and decreases slightly in summer with temperature changes, but the increase in cases tends to break out of seasonality across the region as mutant strains emerge. The co-occurrence analysis found that with the progress of the epidemic, the research keywords gradually shifted from ACE2 and inflammation to the treatment of myocarditis and complications, indicating that the research on the new crown epidemic has entered the stage of prevention and treatment of complications.Conclusion: When combined with the current global pandemic trend, how to improve prognosis and reduce human body damage could become a research focus. At the same time, timely detection, prevention, and discovery of new mutant strains have also become key tasks in the fight against the epidemic, and full preparations have been made to prevent the spread of the next wave of mutant strains, and still need to continue to pay attention to the differential performance of the variant “omicron.”
Psychometric properties of the job anxiety scale
Authors: Schmalbach Ileana , Schmalbach Bjarne , Kalkbrenner Andreas , Bassler Markus , Hinz Andreas , Petrowski Katja 
Published: April 2023

BackgroundOccupational stress and specifically job anxiety are crucial factors in determining health outcomes, job satisfaction as well as performance. In order to assess this phenomenon, the Job Anxiety Scale (JAS) is one of the instruments available. It consists of 70 items that are clustered in 14 subscales and five dimensions. This manuscript is a revised version of a retracted article that analyzed the properties of a short version of the JAS. Rather than shortening the scale, the authors of the JAS recommend to further assess the scale in its current state without modification of the factor structure. Hence, the aim of this paper is to assess the psychometric properties of the original JAS.MethodsThe sample consists of 991 – mostly psychosomatic – patients from two different clinics. We applied methods of factor analysis and bivariate correlations to explore and test factor structure and the nomological net of related constructs.ResultsThe Job Anxiety Scale evinced satisfactory psychometric properties. We found very high internal consistency, and invariance across participant age. It displayed good discriminant validity and we found the expected pattern of convergent correlations. However, the model fit is not convincing.ConclusionWith the Job Anxiety Scale, researchers can assess job related worries in a reliable manner. The questionnaire is particularly useful in large-scale surveys, in therapy or work-related contexts. However, the scale could be modified in order to aim for a better fit and assess job related anxiety in a more efficient way.
Staff perspectives on end-of-life care for people living with dementia in residential aged care homes: qualitative study
Authors: Juhrmann Madeleine L. , San Martin Aljon , Jaure Allison , Poulos Christopher J. , Clayton Josephine M. 
Published: April 2023

IntroductionPeople living with dementia in care homes can benefit from palliative approaches to care; however, not all will require specialist palliative care. The generalist aged care workforce is well placed to provide most of this care with adequate training and support systems in place, but little is known about their experiences.ObjectiveTo describe staff perspectives on providing quality end-of-life care for people living with dementia in residential care and their families.MethodsFocus groups and semi-structured interviews were conducted with residential aged care managerial and frontline staff in Australia who were caring for residents living with dementia and end-of life needs. A comprehensive, then snowballing sampling strategy was used in participating care homes. Transcripts were analyzed using reflexive thematic analysis.ResultsFifteen semi-structured interviews and six focus groups were undertaken with 56 participants across 14 sites across two Australian states. Five themes were identified: putting the resident at the center (creating homes not hospitals, knowing the individual, a case management approach); articulating goals to grant wishes (initiating the conversation, broadening death literacy, avoiding hospitalization); a collective call to action (staffing the home, recognizing deterioration and escalating issues, communication channels and engaging GPs, managing medications, psychosocial supports); educating to empower staff (governance and guidance, mentoring juniors, self-care); and facilitating family acceptance (setting expectations, partnering in care, access at all hours).DiscussionAged care staff are committed to providing person-centered palliative and end-of-life care for people living with dementia, recognizing the intrinsic value of each resident, regardless of their declining state. Frontline and managerial staff consider advance care planning, collectively working as part of a multidisciplinary team, access to targeted palliative and end-of-life education and training, and engaging families as key priorities to providing high quality care in care homes.
Gender differences in lung cancer epidemiology – do Austrian male lung cancer patients still die earlier in life?
Authors: Felsinger Richard , Kunze Ursula , Groman Ernest 
Published: April 2023

ObjectivePrevious analyses reported an unexpected decline of mean age of death of Austrian male lung cancer patients until 1996 and a subsequent turnaround of this epidemiological trend after the mid-1990s until 2007. In light of ongoing changes in smoking behavior of men and women, this study aims to investigate the development of mean age of death from lung cancer in Austria during the past three decades.Materials and methodsThis study used data about the annual mean age of death from lung cancer, including malignant neoplasm of trachea, bronchus and lung, between 1992 and 2021 obtained from Statistics Austria, Federal Institution under Public Law. One-way analysis of variance (ANOVA) and independent samples t-tests were applied to explore any significant differences of mean values in the course of time as well as between men and women.ResultsOverall, mean age of death of male lung cancer patients increased consistently throughout the observed time periods, whereas women did not show any statistically significant change in the last decades.ConclusionPossible reasons for the reported epidemiological development are discussed in this article. Research and Public Health measures should increasingly focus on smoking behaviors of female adolescents.
Availability of essential medicines, progress and regional distribution in China: a systematic review and meta-analysis
Authors: Zhang Miao , Zou Kun , Liu Zheng , Liu Dan , Wang Xiuli , Shi Yuqing , Chen Zhe , Cheng Xiao , Lang Bingchen , Li Hailong , Zeng Linan , Tang Yong , Zhao Shaoyang , Jiang Yongmu , Choonara Imti , Zhang Lingli 
Published: April 2023

BackgroundEssential medicines are the backbone of healthcare and meet the priority healthcare needs of the population. However, approximately one-third of the global population does not have access to essential medicines. Although China formulated essential medicine policies in 2009, the progress of availability of essential medicines and regional variations remains unknown. Therefore, this study was conducted to evaluate the availability of essential medicines, their progress, and regional distribution in China in the last decade.MethodsWe searched eight databases from their inception to February 2022, relevant websites, and reference lists of included studies. Two reviewers selected studies, extracted data, and evaluated the risk of bias independently. Meta-analyses were performed to quantify the availability of essential medicines, their progress, and regional distribution.ResultsOverall 36 cross-sectional studies conducted from 2009 to 2019 were included, with regional data for 14 provinces. The availability of essential medicines in 2015–2019 [28.1%, 95% confidence interval (CI): 26.4–29.9%] was similar to that in 2009–2014 (29.4%, 95% CI: 27.5–31.3%); lower in the Western region (19.8%, 95% CI: 18.1–21.5%) than Eastern (33.8%, 95% CI: 31.6–36.1%) and Central region (34.5%, 95% CI: 30.6–38.5%); very low for 8 Anatomical Therapeutic Chemical (ATC) categories (57.1%), and low for 5 categories (35.7%) among all ATC groups.ConclusionThe availability of essential medicines in China is low compared with the World Health Organization goal, has not changed much in the last decade, is unequal across regions, and lacks data for half of provinces. For policy-making, the monitoring system of the availability of essential medicines is to be strengthened to enable long-term surveillance, especially in provinces where the data has been missing. Meanwhile, Joint efforts from all stakeholders are warranted to improve the availability of essential medicines in China toward the universal health coverage target.Systematic review registrationhttps://www.crd.york.ac.uk/PROSPERO/display_record.php?RecordID=315267, identifier: PROSPERO CRD42022315267.