bluuebunny/crossref_metadata_2025_split huggingface dataset:
Prenatal diagnosis of distal 13q deletion syndrome in a fetus with esophageal atresia: a case report and review of the literature
Authors: Kotani Tomomi , Tsuda Hiroyuki , Ito Yumiko , Nakamura Noriyuki , Ushida Takafumi , Imai Kenji , Iitani Yukako , Fuma Kazuya , Muramatsu Yukako , Hayakawa Masahiro , Kajiyama Hiroaki 
Published: December 2022

Abstract
Background
Chromosome 13q deletion syndrome shows variable clinical features related to the different potential breakpoints in chromosome 13q. The severely malformed phenotype is known to be associated with the deletion of a critical region in 13q32. However, esophageal atresia is a rare symptom and the relevant region is unknown. Thus, determining the association between accurate breakpoints and new clinical features is essential.

Case presentation
A 28-year-old Japanese primigravid woman was referred for fetal growth restriction, absence of a gastric bubble, cerebellar hypoplasia, overlapping fingers, and polyhydramnios at 31 weeks gestation. At 38 + 0 weeks, she delivered a 1774 g female infant. The infant presented with isolated esophageal atresia (Gross type A), Dandy–Walker malformation, right microphthalmia, left coloboma, overlapping fingers, pleurocentrum in the thoracic vertebrae, reduced anogenital distance, and hearing loss. Her karyotype was diagnosed as 46,XX,del(13)(q32.1–qter) by amniocentesis, but array comparative genomic hybridization after birth revealed the deletion of 13q31.3–qter. At 48 days after birth, the infant underwent surgery for esophageal atresia and was later discharged from the hospital at 7 months of age.

Conclusion
This case report and the literature reviews supports the previous findings on the pathological roles of haploinsufficiency of the ZIC2/ZIC5 in Dandy–Walker malformation and the EFBN2 haploinsufficiency in eye malformation and hearing loss. Furthermore, the possible involvement of IRS2, COLA1, and COLA2 in eye malformation were identified. This is the first case of 13q deletion syndrome with esophageal atresia (Gross A), but it may be a symptom of VATER/VACTER association (vertebral defects, anorectal malformations, cardiac defects, tracheoesophageal fistula with or without esophageal atresia, renal malformations, and limb defects), as in the previous cases. These symptoms might also be associated with EFBN2 haploinsufficiency, although further research is required.
A simple and efficient method for cytoplasmic production of human enterokinase light chain in E. coli
Authors: Ebrahimifard Mohammad , Forghanifard Mohammad Mahdi , Yamchi Ahad , Zarrinpour Vajiheh , Sharbatkhari Mahrokh 
Published: December 2022

AbstractHuman enterokinase light chain (hEKL) cDNA sequence was designed with the help of codon optimization towards Escherichia coli codon preference and ribosome binding site design and artificially synthesized with a thioredoxin fusion tag at the N-terminal and a five his-tag peptide at the C-terminal. The synthetic hEKL gene was cloned into the pET-15 expression vector and transferred into the three different expression strains of E. coli BL21(DE3), NiCo21, and SHuffle T7 Express. Different growth and induction conditions were studied using a statistical response surface methodology (RSM). Recombinant hEKL protein was expressed at high levels in soluble form with 0.71 mM IPTG after 4 h of induction at 25 °C. Autocatalytic process cleaved TRX tag with enterokinase recognition site by the impure hEKL and yielded the mature enzyme. The target protein was then purified to homogeneity (> 95%) by affinity chromatography. The activity of hEKL was comparable to the commercial enzyme. From 1 L culture, 80 mg pure active hEKL was obtained with the specific activity of 6.25 × 102 U/mg. Three main parameters that help us to produce the enzyme in the folded and active form are the type of strain, SHuffle T7 strain, TRX and histidine fusion tags, and growth conditions including the increase of OD of induction and IPTG concentration and the decrease of induction temperature.
Cross-corpus speech emotion recognition using subspace learning and domain adaption
Authors: Cao Xuan , Jia Maoshen , Ru Jiawei , Pai Tun-wen 
Published: December 2022

AbstractSpeech emotion recognition (SER) is a hot topic in speech signal processing. When the training data and the test data come from different corpus, their feature distributions are different, which leads to the degradation of the recognition performance. Therefore, in order to solve this problem, a cross-corpus speech emotion recognition method is proposed based on subspace learning and domain adaptation in this paper. Specifically, training set data and the test set data are used to form the source domain and target domain, respectively. Then, the Hessian matrix is introduced to obtain the subspace for the extracted features in both source and target domains. In addition, an information entropy-based domain adaption method is introduced to construct the common space. In the common space, the difference between the feature distributions in the source domain and target domain is reduced as much as possible. To evaluate the performance of the proposed method, extensive experiments are conducted on cross-corpus speech emotion recognition. Experimental results show that the proposed method achieves better performance compared with some existing subspace learning and domain adaptation methods.
Framing the mobility transition: public communication of industry, science, media, and politics in Germany
Authors: Drexler C. E. , Verse B. , Hauslbauer A. , Lopez J. , Haider S. 
Published: December 2022

Abstract
Background
Applying the Multi-Level Perspective (MLP) on socio-technical transitions, paired with the interdisciplinary framing approach, this paper investigates how incumbent actors of automobility in Germany framed the issue of a "transition of mobility and transport" ("Verkehrs/Mobilitätswende") in their public communication in 2020. We first identified representatives of industry, science, policy, and media, since the Verkehrs/Mobilitätswende and its implementation measures are contested among these actors. Employing qualitative content analysis, we then screened 325 public documents according to the elements of the framing approach problem definition, causal interpretation, moral evaluation, and treatment recommendation.

Results
Findings show that most of the actors frame a transformation of transport and mobility as a necessity. Their arguments encompass environmental and climate-related issues as well as infrastructural problems for bikes and public transport caused by the hegemony of automobility. The actors propose a variety of solutions, primarily focusing on technical innovations for cars or on the expansion of different infrastructures to achieve a modal shift towards sustainable mobility.

Conclusion
This paper demonstrates that there is no common understanding of the problems and solutions to foster a mobility transition, as the diversity of problems and solutions proposed within the frame elements is high and complicates the prevailing implementation gap of the mobility transition. Therefore, MLP should be conceptually and methodologically bridged with the interdisciplinary framing approach, particularly with regard to the transition of mobility and transport.
Breast cancer risk factors in Iranian women: a systematic review and meta-analysis of matched case–control studies
Authors: Khoramdad Malihe , Solaymani-Dodaran Masoud , Kabir Ali , Ghahremanzadeh Neda , Hashemi Esmat-o-Sadat , Fahimfar Noushin , Omidi Zahra , Mansournia Mohammad Ali , Olfatbakh Asiie , Salehiniya Hamid , Haghighat Shahpar 
Published: December 2022

Abstract
Background
Identifying breast cancer risk factors is a critical component of preventative strategies for this disease. This study aims to identify modifiable and non-modifiable risk factors of breast cancer in Iranian women.

Methods
We used international databases (PubMed/Medline, Scopus, Web of Knowledge, and Embase) and national databases (SID, Magiran, and ISC) to retrieve relevant studies until November 13, 2022. The odds ratio (OR) with a 95% confidence interval using the random-effect model was used to estimate the pooled effect. The publication bias was assessed by the Egger and Begg test. A sensitivity analysis was conducted to evaluate the effect of each included study on the final measurement.

Results
Of the 30,351 retrieved articles, 24 matched case–control records were included with 12,460 participants (5675 newly diagnosed cases of breast cancer and 6785 control). This meta-analysis showed that of the known modifiable risk factors for breast cancer, obesity (vs normal weight) had the highest risk (OR = 2.17, 95% CI 1.47 to 3.21; I2 = 85.7) followed by age at marriage (25–29 vs < 18 years old) (OR = 2.00, 95% CI 1.53 to 2.61; I2 = 0), second-hand smoking (OR = 1.86, 95% CI 1.58 to 2.19; I2 = 0), smoking (OR = 1.83, 95% CI 1.41 to 2.38; I2 = 18.9), abortion history (OR = 1.44, 95% CI 1.02 to 2.05; I2 = 66.3), oral contraceptive use (OR = 1.35, 95% CI 1.11 to 1.63; I2 = 74.1), age at marriage (18–24 vs < 18 years old) (OR: 1.22, 95% CI 1.02 to 1.47; I2 = 0). Of non-modifiable risk factors, history of radiation exposure (OR = 3.48, 95% CI 2.17 to 5.59; I2 = 0), family history of breast cancer (OR = 2.47, 95% CI 1.83 to 3.33; I2 = 73), and age at menarche (12–13 vs ≥ 14 years old) (OR = 1.67, 95% CI 1.31–2.13; I2 = 25.4) significantly increased the risk of breast cancer.

Conclusions
Since most risk factors related to breast cancer incidence are modifiable, promoting healthy lifestyles can play an influential role in preventing breast cancer. In women with younger menarche age, a family history of breast cancer, or a history of radiation exposure, screening at short intervals is recommended.
TDP-43 dysregulation and neuromuscular junction disruption in amyotrophic lateral sclerosis
Authors: Lépine Sarah , Castellanos-Montiel Maria José , Durcan Thomas Martin 
Published: December 2022

AbstractAmyotrophic lateral sclerosis (ALS) is a disease characterized by upper and lower motor neuron (MN) loss with a signature feature of cytoplasmic aggregates containing TDP-43, which are detected in nearly all patients. Mutations in the gene that encodes TDP-43 (TARBDP) are known to result in both familial and sporadic ALS. In ALS, disruption of neuromuscular junctions (NMJs) constitutes a critical event in disease pathogenesis, leading to denervation atrophy, motor impairments and disability. Morphological defects and impaired synaptic transmission at NMJs have been reported in several TDP-43 animal models and in vitro, linking TDP-43 dysregulation to the loss of NMJ integrity in ALS. Through the lens of the dying-back and dying-forward hypotheses of ALS, this review discusses the roles of TDP-43 related to synaptic function, with a focus on the potential molecular mechanisms occurring within MNs, skeletal muscles and glial cells that may contribute to NMJ disruption in ALS.
“Your mind doesn’t have room for anything else”: a qualitative study of perceptions of cognitive functioning during and after recovery from anorexia nervosa
Authors: Keeler Johanna Louise , Konyn Carol Yael , Treasure Janet , Cardi Valentina , Himmerich Hubertus , Tchanturia Kate , Mycroft Hazel 
Published: December 2022

Abstract
Background
Past research has indicated the presence of cognitive difficulties in individuals with anorexia nervosa (AN), although it is unclear how these are experienced in real life. Moreover, it is unclear how and whether the experience of cognitive difficulties changes in nature and intensity over the course of the illness and following recovery.

Methods
Twenty-one female participants (AN = 11; recovered AN = 10) participated in online semi-structured interviews, utilising open-ended questions and exploring topics relating to their experiences of their cognitive function, changes over time and their perspectives on the future. Reflexive thematic analysis was conducted on the resulting transcripts.

Results
Six themes were identified, centred around the effects of the illness on mental and physical function, cognition, adaptation to living with the illness, similarities between AN and other psychopathology, tentative optimism for the future and recovery as a representation of liberation. Whilst respondents with AN appeared to perform remarkably well in their professional and educational lives, the cognitive difficulties were described as significantly impacting their ability to engage in life, particularly in the context of leisure and socialising. Respondents recovered from AN noted the importance of developing a non-AN identity as well as better emotion-regulation skills as central to recovery.

Conclusions
Whilst people with AN may be able to adapt their lives to the demands of the illness, they report significant cognitive difficulties that interfere with their engagement in many aspects of daily life. This should be considered by professionals working in the clinical management of AN. Treatments focused on ameliorating cognitive difficulties, and promoting emotional regulation and identity in AN are warranted.
#fitspiration: a comparison of the sport-related social media usage and its impact on body image in young adults
Authors: Klier Kristina , Rommerskirchen Tessa , Brixius Klara 
Published: December 2022

Abstract
Background
Following and posting sport-related content on social media is wide-spread among young people. To date, little is known about the interdependence between sport-related social media use and the thereby perceived personal body image.

Methods
We conducted an online survey (N = 285) to examine how social media influences the sport-related body image.

Results
In general, social media are frequently used for sport (n = 136, 47.7%). Resistance training correlated significantly with several motives of sport-related use of social media, and thus, represents the strong online presence of athletic sports. Less correlations could be found in team or other sports. Regarding the perception of body image, it was found that the group of rejecting (negative) body image significantly correlated with the emulation of social media mediated sport-related beauty and body ideals (r = 0.63, p = 0.001), as well as with increased body dissatisfaction when viewing sport-related posts on social media (r = 0.590, p = 0.001). Perceived social pressure and comparison were found to be mediators of the prevailing influence of social media usage.

Conclusions
These results reveal the importance of taking a closer look at socially shaped beauty and body ideals, especially in sport-related contents, striving for more educational campaigns such as Body Positivity and, above all, filtering information. Finally, future research is needed to gain deeper insight into young persons’ usage behavior of social media and its impact on the individual’s body image.
Trial Registration The study was conducted according to the guidelines of the Declaration of Helsinki, and approved by the Ethics Committee of University of the Federal Armed Forces Munich, Germany (01/24/2022).
Deamidation-related blood biomarkers show promise for early diagnostics of neurodegeneration
Authors: Wang Jijing , Zhang Ya-Ru , Shen Xue-Ning , Han Jinming , Cui Mei , Tan Lan , Dong Qiang , Zubarev Roman A. , Yu Jin-Tai 
Published: December 2022

Abstract
Background
The strongest risk factor of neurodegenerative diseases (NDDs) is aging. Spontaneous asparaginyl deamidation leading to formation of isoaspartate (isoAsp) has been correlated with protein aggregation in NDDs.

Methods
Two cohorts consisting of 140 subjects were studied. Cohort 1 contained patients with AD and healthy controls, while Cohort 2 recruited subjects with mild cognitive impairment (MCI), vascular dementia (VaD), frontotemporal dementia (FTD), Parkinson’s disease (PD) and healthy controls. The levels of isoAsp in plasma human albumin (HSA), the most abundant protein in plasma, as well as the levels of immunoglobulin G (IgG) specific against deamidated HSA were measured. Apart from the memory tests, plasma biomarkers for NDDs reported in literature were also quantified, including amyloid beta (Aβ) peptides Aβ40 and Aβ42, neurofilament light protein (NfL), glial fibrillary acidic protein (GFAP) and phosphorylated tau 181 (p-tau181) protein.

Results
Deamidation products of blood albumin were significantly elevated in vascular dementia and frontotemporal dementia (P < 0.05), but less so in PD. Intriguingly, the deamidation levels were significantly (P < 0.01) associated with the memory test scores for all tested subjects. Deamidation biomarkers performed superiorly (accuracy up to 92%) compared with blood biomarkers Aß42/Aß40, NfL, GFAP and p-tau181 in separating mild cognitive impairment from healthy controls.

Conclusion
We demonstrated the diagnostic capacity of deamidation-related biomarkers in predicting NDDs at the early stage of disease, and the biomarker levels significantly correlated with cognitive decline, strongly supporting the role of deamidation in triggering neurodegeneration and early stages of disease development. Prospective longitudinal studies with a longer observation period and larger cohorts should provide a more detailed picture of the deamidation role in NDD progression.
Evaluating contralateral neck failure in patients with lateralized OPSCC treated with transoral robotic surgery and neck management based on pre-operative SPECT-CT lymphatic mapping
Authors: Berania Ilyes , Hosni Ali , Thomas Carissa M. , Goldstein David , Bayley Andrew , Mohan Ravi , Hendler Aaron , Cooper Richard M. , de Almeida John R. 
Published: December 2022

Background Risk of contralateral nodal metastases in oropharyngeal squamous cell carcinoma (OPSCC) is relatively low, however, many OPSCC patients receive bilateral neck treatment. This study evaluates the oncological outcomes with management of the contralateral cN0 neck based on lymphatic mapping with single photon emission computed tomography (SPECT-CT). Methods Retrospective evaluation of patients with lateralized cT1-2 and contralateral cN0 OPSCC treated with primary surgery between December 2017 and October 2019. All patients underwent pre-operative lymphatic mapping using SPECT-CT. Clinical parameters including demographics, tumor characteristics and oncological outcomes were recorded. Results Thirteen patients underwent primary site resection with transoral robotic surgery (TORS) and ipsilateral neck dissection with or without adjuvant therapy. Twelve patients (92.3%) had ipsilateral drainage on SPECT-CT, whereas 1 (7.7%) patient had bilateral neck lymphatic drainage. Four patients (30.8%) underwent post-operative radiation therapy (PORT). Three patients with unilateral drainage on SPECT-CT underwent PORT with unilateral neck irradiation, and 1 patient with bilateral drainage underwent PORT with bilateral neck irradiation. Seven (53.8%) patients were staged as pT1, 6 (46.2%) patients as pT2, 6 (46.2%) patients were pN0, 3 (23.1%) patients were pN1, 1 (7.7%) patient was pN2a for and 3 (23.1%) patients were N2b. The median distance of the tumor from midline was 1.05 cm (0.0–1.58). Primary sites included tonsil (n = 10, 76.9%) and tongue base (n = 3, 23.1%). The median follow-up time was 15.4 months. All patients were disease free at the latest follow-up with no contralateral neck failures. Conclusions Pre-operative mapping of lymphatic drainage in early stage OPSCC with SPECT-CT is a promising tool which can reduce treatment to the contralateral neck potentially without compromising oncological outcomes. Graphical Abstract
Whole body FDG PET/MR for progression free and overall survival prediction in patients with relapsed/refractory large B-cell lymphomas undergoing CAR T-cell therapy
Authors: Sjöholm Therese , Korenyushkin Alexander , Gammelgård Gustav , Sarén Tina , Lövgren Tanja , Loskog Angelica , Essand Magnus , Kullberg Joel , Enblad Gunilla , Ahlström Håkan 
Published: December 2022

AbstractBackgroundTo find semi-quantitative and quantitative Positron Emission Tomography/Magnetic Resonance (PET/MR) imaging metrics of both tumor and non-malignant lymphoid tissue (bone marrow and spleen) for Progression Free Survival (PFS) and Overall Survival (OS) prediction in patients with relapsed/refractory (r/r) large B-cell lymphoma (LBCL) undergoing Chimeric Antigen Receptor (CAR) T-cell therapy.MethodsA single-center prospective study of 16 r/r LBCL patients undergoing CD19-targeted CAR T-cell therapy. Whole body 18F-fluorodeoxyglucose (FDG) PET/MR imaging pre-therapy and 3 weeks post-therapy were followed by manual segmentation of tumors and lymphoid tissues. Semi-quantitative and quantitative metrics were extracted, and the metric-wise rate of change (Δ) between post-therapy and pre-therapy calculated. Tumor metrics included maximum Standardized Uptake Value (SUVmax), mean SUV (SUVmean), Metabolic Tumor Volume (MTV), Tumor Lesion Glycolysis (TLG), structural volume (V), total structural tumor burden (Vtotal) and mean Apparent Diffusion Coefficient (ADCmean). For lymphoid tissues, metrics extracted were SUVmean, mean Fat Fraction (FFmean) and ADCmeanfor bone marrow, and SUVmean, V and ADCmeanfor spleen. Univariate Cox regression analysis tested the relationship between extracted metrics and PFS and OS. Survival curves were produced using Kaplan–Meier analysis and compared using the log-rank test, with the median used for dichotomization. Uncorrectedp-values < 0.05 were considered statistically significant. Correction for multiple comparisons was performed, with a False Discovery Rate (FDR) < 0.05 considered statistically significant.ResultsPre-therapy (p < 0.05, FDR < 0.05) and Δ (p < 0.05, FDR > 0.05) total tumor burden structural and metabolic metrics were associated with PFS and/or OS. According to Kaplan-Meier analysis, a longer PFS was reached for patients with pre-therapy MTV ≤ 39.5 ml, ΔMTV≤1.35 and ΔTLG≤1.35. ΔSUVmaxwas associated with PFS (p < 0.05, FDR > 0.05), while ΔADCmeanwas associated with both PFS and OS (p < 0.05, FDR > 0.05). ΔADCmean > 0.92 gave longer PFS and OS in the Kaplan-Meier analysis. Pre-therapy bone marrow SUVmeanwas associated with PFS (p < 0.05, FDR < 0.05) and OS (p < 0.05, FDR > 0.05). For bone marrow FDG uptake, patient stratification was possible pre-therapy (SUVmean ≤ 1.8).ConclusionsMTV, tumor ADCmeanand FDG uptake in bone marrow unaffected by tumor infiltration are possible PET/MR parameters for prediction of PFS and OS in r/r LBCL treated with CAR T-cells.Trial registrationEudraCT 2016–004043-36.