bluuebunny/crossref_metadata_2025_split huggingface dataset:
Prenatal diagnosis of Down syndrome combined with transient abnormal myelopoiesis in foetuses with a GATA1 gene variant: two case reports
Authors: Tang Hui , Hu Jingjing , Liu Ling , Lv Lijuan , Lu Jian , Yang Jiexia , Lu Jiaqi , Chen Zhenhui , Yang Chaoxiang , Chen Dan , Fu Jintao , Wu Jing 
Published: October 2023

Abstract
Background
Down syndrome myeloid hyperplasia includes transient abnormal myelopoiesis (TAM) and the myeloid leukemia associated with Down syndrome (ML-DS). The mutation of GATA1 gene is essential in the development of Down syndrome combined with TAM or ML-DS. Some patients with TAM are asymptomatic and may also present with severe manifestations such as hepatosplenomegaly and hydrops.

Case presentation
We report two cases of prenatally diagnosed TAM. One case was a rare placental low percentage 21 trisomy mosiacism, resulting in the occurrence of a false negative NIPT. The final diagnosis was made at 36 weeks of gestation when ultrasound revealed significant enlargement of the foetal liver and spleen and an enlarged heart; the foetus eventually died in utero. We detected a placenta with a low percentage (5–8%) of trisomy 21 mosiacism by Copy Number Variation Sequencing (CNV-seq) and Fluorescence in situ hybridization (FISH). In another case, foetal oedema was detected by ultrasound at 31 weeks of gestation. Two foetuses were diagnosed with Down syndrome by chromosomal microarray analysis via umbilical vein puncture and had significantly elevated cord blood leucocyte counts with large numbers of blasts. The GATA1 Sanger sequencing results suggested the presence of a [NM_002049.4(GATA1):c.220G > A (p. Val74Ile)] hemizygous variant and a [NM_002049.4(GATA1):c.49dupC(p. Gln17ProfsTer23)] hemizygous variant of the GATA1 gene in two cases.

Conclusion
It seems highly likely that these two identified mutations are the genetic cause of prenatal TAM in foetuses with Down syndrome.
Novel immune-related gene signature for risk stratification and prognosis prediction in ovarian cancer
Authors: Fei Hongjun , Han Xu , Wang Yanlin , Li Shuyuan 
Published: October 2023

Abstract
Background
The immune system played a multifaceted role in ovarian cancer (OC) and was a significant mediator of ovarian carcinogenesis. Various immune cells and immune gene products played an integrated role in ovarian cancer (OC) progression, proved the significance of the immune microenvironment in prognosis. Therefore, we aimed to establish and validate an immune gene prognostic signature for OC patients’ prognosis prediction.

Methods
Differently expressed Immune-related genes (DEIRGs) were identified in 428 OC and 77 normal ovary tissue specimens from 9 independent GEO datasets. The Cancer Genome Atlas (TCGA) cohort was used as a training cohort, Univariate Cox analysis was used to identify prognostic DEIRGs in TCGA cohort. Then, an immune gene-based risk model for prognosis prediction was constructed using the LASSO regression analysis, and validated the accuracy and stability of the model in 374 and 93 OC patients in TCGA training cohort and International Cancer Genome Consortium (ICGC) validation cohort respectively. Finally, the correlation among risk score model, clinicopathological parameters, and immune cell infiltration were analyzed.

Results
Five DEIRGs were identified to establish the immune gene signature and divided OC patients into the low- and high-risk groups. In TCGA and ICGC datasets, patients in the low-risk group showed a substantially higher survival rate than high-risk group. Receiver operating characteristic (ROC) curves, t-distributed stochastic neighbor embedding (t-SNE) analysis and principal component analysis (PCA) showed the good performance of the risk model. Clinicopathological correlation analysis proved the risk score model could serve as an independent prognostic factor in 2 independent datasets.

Conclusions
The prognostic model based on immune-related genes can function as a superior prognostic indicator for OC patients, which could provide evidence for individualized treatment and clinical decision making.
Circulating neutrophils from patients with early breast cancer have distinct subtype-dependent phenotypes
Authors: Ramessur Anisha , Ambasager Bana , Valle Aramburu Iker , Peakman Freddie , Gleason Kelly , Lehmann Christoph , Papayannopoulos Venizelos , Coombes Raoul Charles , Malanchi Ilaria 
Published: October 2023

Abstract
Purpose
An elevated number of circulating neutrophils is a poor prognostic factor for breast cancer, where evidence of bone marrow cancer-dependent priming is found. However, how early this priming is detectable remains unclear.

Patients and methods
Here, we investigate changes in circulating neutrophils from newly diagnosed breast cancer patients before any therapeutic interventions. To do this, we assessed their lifespan and their broader intracellular kinase network activation states by using the Pamgene Kinome assay which measures the activity of neutrophil kinases.

Results
We found sub-type specific L-selectin (CD62L) changes in circulating neutrophils as well as perturbations in their overall global kinase activity. Strikingly, breast cancer patients of different subtypes (HR+, HER2+, triple negative) exhibited distinct neutrophil kinase activity patterns indicating that quantifiable perturbations can be detected in circulating neutrophils from early breast cancer patients, that are sensitive to both hormonal and HER-2 status. We also detected an increase in neutrophils lifespan in cancer patients, independently of tumour subtype.

Conclusions
Our results suggest that the tumour-specific kinase activation patterns in circulating neutrophils may be used in conjunction with other markers to identify patients with cancer from those harbouring only benign lesions of the breast. Given the important role neutrophil in breast cancer progression, the significance of this sub-type of specific priming warrants further investigation.
Analyses of POL30 (PCNA) reveal positional effects in transient repression or bi-modal active/silent state at the sub-telomeres of S. cerevisiae
Authors: Sauty Safia Mahabub , Yankulov Krassimir 
Published: October 2023

Abstract
Background
Classical studies on position effect variegation in Drosophila have demonstrated the existence of bi-modal Active/Silent state of the genes juxtaposed to heterochromatin. Later studies with irreversible methods for the detection of gene repression have revealed a similar phenomenon at the telomeres of Saccharomyces cerevisiae and other species. In this study, we used dual reporter constructs and a combination of reversible and non-reversible methods to present evidence for the different roles of PCNA and histone chaperones in the stability and the propagation of repressed states at the sub-telomeres of S. cerevisiae.

Results
We show position dependent transient repression or bi-modal expression of reporter genes at the VIIL sub-telomere. We also show that mutations in the replicative clamp POL30 (PCNA) or the deletion of the histone chaperone CAF1 or the RRM3 helicase lead to transient de-repression, while the deletion of the histone chaperone ASF1 causes a shift from transient de-repression to a bi-modal state of repression. We analyze the physical interaction of CAF1 and RRM3 with PCNA and discuss the implications of these findings for our understanding of the stability and transmission of the epigenetic state of the genes.

Conclusions
There are distinct modes of gene silencing, bi-modal and transient, at the sub-telomeres of S. cerevisiae. We characterise the roles of CAF1, RRM3 and ASF1 in these modes of gene repression. We suggest that the interpretations of past and future studies should consider the existence of the dissimilar states of gene silencing.
Synthesizing implications of a collaborative project on socially sustainable housing policies for the aging population
Authors: Iwarsson Susanne , Granbom Marianne , Jonsson Oskar 
Published: October 2023

Abstract
Objective
Based on findings from four transdisciplinary original research studies on housing issues for the aging population, whereof three had a particular focus on marginalized groups, we report a co-produced synthesis of implications from a collaborative research project on socially sustainable housing policies. Researchers and non-academic partners in the ongoing Thematic Collaboration Initiative Social Rights and Housing for the Aging Population at Lund University collaborated in co-creative activities aiming at policy recommendations.

Results
Seven types of implications (i.e., themes) that represent macro and meso level approaches with potential to generate impact on social rights and housing for the aging population were identified. The content of legislation and regulations, financial institution strategies, and housing and neighbourhood development exemplify macro level implications. The three themes education and training, communicating with a diversity of stakeholders, and communicating with the public all relate to an overall need for integrated knowledge translation. The theme involving older adults as a resource delivered insight into underutilized capacities of the diverse target group. As the quest for integrated knowledge translation is growing stronger, this research note contributes to development of co-production approaches to synthesize implications of transdisciplinary collaboration, connecting research, practice and policy on societal challenges that ay population aging.
FLAIR vascular hyperintensity combined with asymmetrical prominent veins in acute anterior circulation ischemic stroke: prediction of collateral circulation and clinical outcome
Authors: Xiang Wei , Wei Hongchun , Liang Zhigang , Zhang Manman , Sun Zhongwen , Lv Yaodong , Zhang Chengzhou , Zheng Huaguang 
Published: October 2023

Abstract
Background
To investigate the value of fluid-attenuated inversion recovery vascular hyperintensity (FVH) within asymmetrical prominent veins sign (APVS) on susceptibility-weighted imaging predicting collateral circulation and prognosis in patients with acute anterior circulation ischemic stroke.

Method
Patients with severe stenosis or occlusion of ICA or MCA M1, who underwent MRI within 72 h from stroke onset were reviewed. The Alberta Stroke Program Early CT Score was used to evaluate the volume of infarction on DWI, the degree of FVH and APVS. Spearman correlation analysis was used to evaluate the correlation between FVH and APVS. All patients were divided into the good prognosis group and the poor prognosis group according to the score of the modified ranking scale (mRS) 90 days after the stroke. Logistic regression analysis was used to explore the relationship between FVH and APVS and functional prognosis, while receiver operating characteristic (ROC) curves were plotted to assess the value of FVH and APVS in predicting prognosis.

Results
Spearman correlation analysis revealed moderate positive correlations between FVH and APVS (r = 0.586, P < 0.001). The poor prognosis group had a higher rate of a history of atrial fibrillation, a larger cerebral infarction volume, a higher NIHSS score at admission, and a higher FVH and APVS score compared with the good prognosis group (all P < 0.05). A further logistic regression indicated that the NIHSS score, cerebral infarction volume, FVH and APVS were independent risk factors for a poor functional prognosis. In terms of FVH, APVS, alone and their combination for the diagnosis of poor prognosis, the sensitivity, specificity, area under the ROC curve (AUC), and 95% confidence interval (CI) were 86.8%, 83.3%, 0.899 (95% CI 0.830–0.968); 60.5%, 93.7%, 0.818 (95% CI 0.723–0.912); 86.8%, 89.6%, 0.921 (95% CI 0.860–0.981), respectively.

Conclusion
The presence of FVH and APVS can provide a comprehensive assessment of collateral circulation from the perspective of veins and arteries, and the correlation between the two is positively correlated. Both of them were independent risk factors for poor prognosis, their combination is complementary and can improve the predictive value.
What is the relationship between health-related quality of life among scoliosis patients and their caregiver burden? A cross-sectional study in China
Authors: Shi Zhao , Mao Zhuxin , Xue Shiwen , Chen Gang , Li Shunping 
Published: October 2023

Abstract
Background
Caregivers play a vital role in the recovery of scoliosis patients, but limited studies evaluate the caregivers’ HRQoL and burden in health care. This study aimed to explore the health-related quality of life (HRQoL) of scoliosis patients and their caregivers, and identify the factors influencing caregiver burden in Eastern China.

Methods
This cross-sectional study was conducted from August 2018 to January 2019 at the Shandong Provincial Hospital, Jinan, China. The HRQoL of scoliosis patients was measured by the Scoliosis Research Society-22r (SRS-22r), five-level EQ-5D (EQ-5D-5L) and Child Health Utility 9D (CHU9D). The caregivers’ questionnaires consist of the EQ-5D-5L, WHO-five wellbeing index (WHO-5), 22-item Zarit Caregiver Burden Interview (ZBI-22) and Social Support Rating Scale (SSRS). Spearman correlation coefficients were used to estimate the relationship among caregivers’ burden, social support, HRQoL, and SWB. Cohen’s effect size (Cohen’s d) was used to assess the ZBI-22 total score between different groups. Multiple stepwise hierarchical linear regression models were conducted to assess the associated factors of caregiver burden.

Results
There were 59 scoliosis patients and their caregivers (n = 59) included in the analysis. The mean health state utility of adolescent scoliosis patients (n = 39) was 0.718 (95%CI: 0.654, 0.782) based on CHU9D and adult scoliosis patients (n = 20) was 0.663 (95%CI: 0.471, 0.855) based on EQ-5D-5L. The mean health state utility of male scoliosis patients (0.792/0.667) was higher than females (0.681/0.662) based on CHU9D and EQ-5D-5L (p > 0.05), respectively. The ZBI-22 total score of scoliosis patients’ caregivers was 27.86 (SD: 20.59). Scoliosis patients’ HRQoL was significantly inversely correlated with caregiver burden, and the HRQoL and subjective wellbeing (SWB) of caregivers were moderately and inversely correlated with caregiver burden. The regression results showed that the patients’ age and caregivers’ SWB were key characteristics associated with caregiver burden.

Conclusions
The caregiver burden of adolescent patients was higher than that of adult patients, and the satisfaction rate of adolescent scoliosis patients was higher than that of adult scoliosis patients. Improving the functional state of scoliosis patients and providing appropriate nursing practice education from health professionals would be necessary to effectively improve caregivers SWB and alleviate caregiver burden.
Renal protection CT protocol using low-dose and low-concentration iodine contrast medium in at-risk patients of HCC and with chronic kidney disease: a randomized controlled non-inferiority trial
Authors: Yoon Jeong Hee , Park Jin Young , Lee Sang Min , Lee Eun Sun , Kim Jae Hyun , Lee Jeong Min 
Published: October 2023

Abstract
Background
Although efforts have been made to reduce the dose of Contrast Medium (CM) to improve patient safety, there are ongoing concerns regarding its potential effects on image quality and diagnostic performance. Moreover, research is lacking to establish a lower limit for safe and effective CM dose reduction. To determine whether the image quality of contrast-enhanced liver computed tomography (CT) using a reduced amount of iodinated CM was similar to that of standard liver CT.

Methods
We enrolled participants at risk for hepatocellular carcinoma with decreased estimated glomerular filtration rates (< 60 mL/min/1.73m2). Participants were randomly assigned to the standard group or the renal protection protocol (RPP) group. In the standard group, images were reconstructed using hybrid iterative reconstruction (iDose), while in the RPP group, low monoenergetic (50-keV) images and deep learning (DL)-based iodine-boosting reconstruction were used. Four radiologists independently assessed image quality and lesion conspicuity.

Results
Fifty-two participants were assigned to the standard (n = 25) or RPP (n = 27) groups. The iodine load was significantly lower in the RPP group than in the standard group (301.5 ± 1.71 vs. 524 ± 7.37 mgI/kg, P < 0.001). The 50-keV and DL-based iodine-boosting images from the RPP group exhibited higher image contrast than those from the standard group during arterial (3.60 ± 0.65, 3.75 ± 0.60, and 3.09 ± 0.43, respectively) and portal venous phases (4.01 ± 0.49, 3.86 ± 0.42, and 3.21 ± 0.31, respectively) (P < 0.05 for all). Overall image quality was superior in the RPP group (P < 0.05 for all). No significant difference in lesion conspicuity was observed (P > 0.017).

Conclusions
The reduction in image contrast and overall image quality caused by decreased CM can be restored using either low monoenergetic imaging or DL-based iodine-boosting reconstruction.

Trial registration
clinicaltrials.gov, NCT04024514, Registered July 18, 2019, prospectively registered, https://classic.clinicaltrials.gov/ct2/show/NCT04024514.
Sclerosing epithelioid fibrosarcoma – a rare variant with myriads of differentials
Authors: Prachi  , Aiyer Hema Malini 
Published: October 2023

AbstractSclerosing Epithelioid Fibrosarcoma is a rare form of soft tissue sarcoma, with increased propensity for local recurrence and metastases mainly pulmonary and pleural in about 50% of cases. It carries morphological resemblance with many sarcomas, hence detailed and comprehensive immunohistochemical examination is mandatory for definitive diagnosis. Hereby, we present a case in a 39 year old male, who presented with a painless right thigh swelling. The histopathological examination revealed nests of epithelioid cells embedded in a densely sclerotic matrix, and immunohistochemistry showed MUC4 and Vimentin positivity, rendering the final diagnosis of Sclerosing Epithelioid Fibrosarcoma.
Impulsivity and compulsivity in gambling disorder and bulimic spectrum eating disorders: Analysis of neuropsychological profiles and sex differences
Authors: Lozano-Madrid María , Granero Roser , Lucas Ignacio , Sánchez Isabel , Sánchez-González Jéssica , Gómez-Peña Mónica , Moragas Laura , Mallorquí-Bagué Nuria , Tapia Javier , Jiménez-Murcia Susana , Fernández-Aranda Fernando 
Published: October 2023

Abstract

Background
Gambling disorder (GD) and bulimic spectrum eating disorders (BSDs) not only share numerous psychopathological, neurobiological, and comorbidity features but also are distinguished by the presence of inappropriate behaviours related to impulsivity and compulsivity. This study aimed to emphasise the differences and similarities in the main impulsivity and compulsivity features between GD and BSD patients, and to analyse the potential influence of sex in these domains.

Methods
Using self-reported and neurocognitive measures, we assessed different impulsive–compulsive components in a sample of 218 female and male patients (59 with BSD and 159 with GD) and 150 healthy controls.

Results
We observed that GD and BSDs exhibited elevated levels of impulsivity and compulsivity in all the dimensions compared to healthy controls. Moreover, these disorders showed differences in several personality traits, such as high novelty seeking in GD, and low persistence and high harm avoidance in BSDs. In addition, patients with BSDs also displayed a trend towards greater impulsive choice than GD patients. Regarding sex effects, GD women presented higher overall impulsivity and compulsivity than GD men. Nevertheless, no sex differences were found in BSDs.

Conclusions
Clinical interventions should consider these deficits to enhance their effectiveness, including adjunctive treatment to target these difficulties. Our findings also provide support to the relevance of sex in GD, which should also be considered in clinical interventions.
Orbitofrontal sulcal patterns in catatonia
Authors: Moyal Mylène , Haroche Alexandre , Attali David , Dadi Ghita , Raoelison Matthieu , Le Berre Alice , Iftimovici Anton , Chaumette Boris , Leroy Sylvain , Charron Sylvain , Debacker Clément , Oppenheim Catherine , Cachia Arnaud , Plaze Marion 
Published: October 2023

Abstract

Background
Catatonia is a psychomotor syndrome frequently observed in disorders with neurodevelopmental impairments, including psychiatric disorders such as schizophrenia. The orbitofrontal cortex (OFC) has been repeatedly associated with catatonia. It presents with an important interindividual morphological variability, with three distinct H-shaped sulcal patterns, types I, II, and III, based on the continuity of the medial and lateral orbital sulci. Types II and III have been identified as neurodevelopmental risk factors for schizophrenia. The sulcal pattern of the OFC has never been investigated in catatonia despite the role of the OFC in the pathophysiology and the neurodevelopmental component of catatonia.

Methods
In this context, we performed a retrospective analysis of the OFC sulcal pattern in carefully selected homogeneous and matched subgroups of schizophrenia patients with catatonia (N = 58) or without catatonia (N = 65), and healthy controls (N = 82).

Results
Logistic regression analyses revealed a group effect on OFC sulcal pattern in the left (χ2 = 18.1; p < .001) and right (χ2 = 28.3; p < .001) hemispheres. Catatonia patients were found to have more type III and less type I in both hemispheres compared to healthy controls and more type III on the left hemisphere compared to schizophrenia patients without catatonia.

Conclusion
Because the sulcal patterns are indirect markers of early brain development, our findings support a neurodevelopmental origin of catatonia and may shed light on the pathophysiology of this syndrome.
Cerebrovascular Abnormalities in Adults Born SGA at 12 Years After Growth Hormone Cessation Compared to Controls
Authors: Dorrepaal Demi Justine , Goedegebuure Wesley Jim , Smagge Lucas , van der Steen Manouk , van der Lugt Aad , Hokken-Koelega Anita Charlotte Suzanne 
Published: October 2023

Abstract

Context
Increased cerebrovascular morbidity was reported in adults born small for gestational age (SGA) who were treated with growth hormone (GH) during childhood compared to the general population. However, previous studies did not have an appropriate control group, which is a major limitation.

Objective
To study cerebrovascular abnormalities (aneurysms, previous intracerebral hemorrhages and microbleeds) using magnetic resonance imaging (MRI) in adults born SGA at 12 years after cessation of childhood GH treatment (SGA-GH) compared to appropriate controls.

Methods
In this single-center, prospective study, brain MRIs were performed between May 2016 and December 2020 on a 3T MRI system. MRI images were scored by 2 neuroradiologists who were blinded to patient groupings. Participants included adults born SGA previously treated with GH and 3 untreated control groups: adults born SGA with persistent short stature (SGA-S), adults born SGA with spontaneous catch-up growth to a normal height (SGA-CU) and adults born appropriate for gestational age with a normal height (AGA). The intervention was long-term GH treatment during childhood and the main outcome measure was cerebrovascular abnormalities.

Results
A total of 301 adults were investigated. Aneurysms were found in 6 adults: 3 (3.6%) SGA-GH, 1 (2.9%) SGA-S and 2 (2.2%) AGA adults, without differences between SGA-GH adults and the controls. Previous intracerebral hemorrhages were only found in 2 SGA-S adults (4.8%). Microbleeds were found in 17 adults: 4 (4.3%) SGA-GH, 4 (9.5%) SGA-S, 3 (4.3%) SGA-CU and 6 (6.3%) AGA adults, without differences between SGA-GH adults and the controls.

Conclusion
Our findings suggest that SGA-GH adults at 12 years after GH cessation have no increased prevalence of cerebrovascular abnormalities compared to appropriate controls. Further research is needed to confirm our findings.