bluuebunny/crossref_metadata_2025_split huggingface dataset:
Challenging diagnoses of tetraploidy/diploidy and trisomy 12: utility of first-tier prenatal testing methods
Authors: Iordanescu Irina Ioana , Neacsu Anca Teodora , Catana Andreea , Barabas-CuzmicI Zina , Suciu Viorel , Dragomir Cristina , Voicu Diana Elena , Severin Emilia , Militaru Mariela Sanda 
Published: November 2023

Introduction: Chromosome mosaicism and low-grade mosaicism present a challenge for diagnosis in the era of SNP array and NGS. Tetraploidy is a rare numerical chromosomal abnormality characterized by the presence of four copies of each chromosome. The prevalence of tetraploidy/diploidy mosaicism cases is extremely rare in the human population. Accurate estimates of the frequency of this chromosomal anomaly are lacking due to its classification as an extremely rare and difficult-to-detect condition.Methods: In this report, we describe two cases involving challenging diagnoses of tetraploidy/diploidy and trisomy 12. We utilized advanced genetic testing techniques, including SNP array, to examine the chromosomal abnormalities in these cases. We compared the results from SNP array to conventional G band karyotyping to assess the utility of first-tier prenatal testing methods.Results:Our analysis revealed two cases of tetraploidy/diploidy and trisomy 12 with atypical presentations. SNP array analysis provided higher resolution and more precise information about the chromosomal anomalies in these cases compared to conventional G band karyotyping. Additionally, the prevalence of tetraploidy/diploidy mosaicism was confirmed to be extremely rare in the population.Discussion: Low-level mosaicism is difficult to diagnose, and in many cases, it has traditionally been identified through techniques such as G band karyotype or FISH. Microarray has become an invaluable diagnostic tool for detecting chromosomal abnormalities, offering high-resolution insights. However, it may not always be able to detect rare occurrences of tetraploidy or tetraploidy/diploidy mosaicism. As a result, it is recommended to perform a G band karyotype analysis after obtaining a negative microarray result before considering other diagnostic methods with a potentially higher yield of diagnosis. For the detection of low-level mosaicism, combined diagnostic methods should be considered. The diagnosis of mosaicism is a multistep process that can be time-consuming, often requiring the application of more than one diagnostic technique. This approach is crucial for accurate diagnosis and comprehensive patient care. Further research is warranted to better understand the underlying mechanisms of these rare chromosomal anomalies and to develop more effective diagnostic strategies for challenging cases.
In-depth blood immune profiling of Good syndrome patients
Authors: Torres-Valle Alba , Aragon Larraitz , Silva Susana L. , Serrano Cristina , Marcos Miguel , Melero Josefa , Bonroy Carolien , Arenas-Caro Pedro Pablo , Casado David Monzon , Olaizola Pedro Mikel Requejo , Neirinck Jana , Hofmans Mattias , de Arriba Sonia , Jara María , Prieto Carlos , Sousa Ana E. , Prada Álvaro , van Dongen Jacques J. M. , Pérez-Andrés Martín , Orfao Alberto 
Published: November 2023

IntroductionGood syndrome (GS) is a rare adult-onset immunodeficiency first described in 1954. It is characterized by the coexistence of a thymoma and hypogammaglobulinemia, associated with an increased susceptibility to infections and autoimmunity. The classification and management of GS has been long hampered by the lack of data about the underlying immune alterations, a controversy existing on whether it is a unique diagnostic entity vs. a subtype of Common Variable Immune Deficiency (CVID).MethodsHere, we used high-sensitive flow cytometry to investigate the distribution of up to 70 different immune cell populations in blood of GS patients (n=9) compared to age-matched CVID patients (n=55) and healthy donors (n=61).ResultsAll 9 GS patients displayed reduced B-cell counts -down to undetectable levels (&lt;0.1 cells/μL) in 8/9 cases-, together with decreased numbers of total CD4+ T-cells, NK-cells, neutrophils, and basophils vs. age-matched healthy donors. In contrast, they showed expanded TCRγδ+ T-cells (p ≤ 0.05). Except for a deeper B-cell defect, the pattern of immune cell alteration in blood was similar in GS and (age-matched) CVID patients. In depth analysis of CD4+ T-cells revealed significantly decreased blood counts of naïve, central memory (CM) and transitional memory (TM) TCD4+ cells and their functional compartments of T follicular helper (TFH), regulatory T cells (Tregs), T helper (Th)2, Th17, Th22, Th1/Th17 and Th1/Th2 cells. In addition, GS patients also showed decreased NK-cell, neutrophil, basophil, classical monocyte and of both CD1c+ and CD141+ myeloid dendritic cell counts in blood, in parallel to an expansion of total and terminal effector TCRγδ+ T-cells. Interestingly, those GS patients who developed hypogammaglobulinemia several years after the thymoma presented with an immunological and clinical phenotype which more closely resembled a combined immune humoral and cellular defect, with poorer response to immunoglobulin replacement therapy, as compared to those in whom the thymoma and hypogammaglobulinemia were simultaneously detected.DiscussionOur findings provide a more accurate definition of the immune cell defects of GS patients and contribute to a better discrimination among GS patients between those with a pure B-cell defect vs. those suffering from a combined immunodeficiency with important consequences on the diagnosis and management of the disease.
RNA-sequencing based first choice of treatment and determination of risk in multiple myeloma
Authors: Emde-Rajaratnam Martina , Beck Susanne , Benes Vladimir , Salwender Hans , Bertsch Uta , Scheid Christoph , Hänel Mathias , Weisel Katja , Hielscher Thomas , Raab Marc S. , Goldschmidt Hartmut , Jauch Anna , Maes Ken , De Bruyne Elke , Menu Eline , De Veirman Kim , Moreaux Jérôme , Vanderkerken Karin , Seckinger Anja , Hose Dirk 
Published: November 2023

BackgroundImmunotherapeutic targets in multiple myeloma (MM) have variable expression height and are partly expressed in subfractions of patients only. With increasing numbers of available compounds, strategies for appropriate choice of targets (combinations) are warranted. Simultaneously, risk assessment is advisable as patient’s life expectancy varies between months and decades.MethodsWe first assess feasibility of RNA-sequencing in a multicenter trial (GMMG-MM5, n=604 patients). Next, we use a clinical routine cohort of untreated symptomatic myeloma patients undergoing autologous stem cell transplantation (n=535, median follow-up (FU) 64 months) to perform RNA-sequencing, gene expression profiling (GEP), and iFISH by ten-probe panel on CD138-purified malignant plasma cells. We subsequently compare target expression to plasma cell precursors, MGUS (n=59), asymptomatic (n=142) and relapsed (n=69) myeloma patients, myeloma cell lines (n=26), and between longitudinal samples (MM vs. relapsed MM). Data are validated using the independent MMRF CoMMpass-cohort (n=767, FU 31 months).ResultsRNA-sequencing is feasible in 90.8% of patients (GMMG-MM5). Actionable immune-oncological targets (n=19) can be divided in those expressed in all normal and &gt;99% of MM-patients (CD38, SLAMF7, BCMA, GPRC5D, FCRH5, TACI, CD74, CD44, CD37, CD79B), those with expression loss in subfractions of MM-patients (BAFF-R [81.3%], CD19 [57.9%], CD20 [82.8%], CD22 [28.4%]), aberrantly expressed in MM (NY-ESO1/2 [12%], MUC1 [12.7%], CD30 [4.9%], mutated BRAF V600E/K [2.1%]), and resistance-conveying target-mutations e.g., against part but not all BCMA-directed treatments. Risk is assessable regarding proliferation, translated GEP- (UAMS70-, SKY92-, RS-score) and de novo (LfM-HRS) defined risk scores. LfM-HRS delineates three groups of 40%, 38%, and 22% of patients with 5-year and 12-year survival rates of 84% (49%), 67% (18%), and 32% (0%). R-ISS and RNA-sequencing identify partially overlapping patient populations, with R-ISS missing, e.g., 30% (22/72) of highly proliferative myeloma.ConclusionRNA-sequencing based assessment of risk and targets for first choice treatment is possible in clinical routine.
Fabrication of polymeric composite GTR membrane from eggshell powder, polylactic acid and polyethylene glycol for periodontal application: in vitro evaluation
Authors: Farman Humaira , Khan Muhammad Adnan , Alamoudi Abdulmohsin J. , Sharif Faiza , Alshamrani Meshal , Liaqat Saad , Rizg Waleed Y. , Shaik Rasheed A. , Muhammad Nawshad 
Published: November 2023

This study aims to fabricate, characterize and evaluate Guided tissue regeneration (GTR) membrane containing eggshell (ES), chlorhexidine (CHX) and polymeric matrix for periodontal application. ES powder ground to size 74 µm was mixed in Polylactic Acid (PLA) and Polyethylene Glycol (70:30 ratios) mixture in 10% and 30% wt to fabricate the membrane and named groups C-10 and C-30. Along with this, 0.25% and 0.5% CHX powder were adsorbed on ES powder and incorporated in PLA and PEG mixture to fabricate drug containing groups C-10CHX and C-30CHX respectively. UTM was used to measure tensile strength, Young’s Modulus, and percent elongation of the prepared GTR membrane. Experimental groups containing 10% ES powder (C-10 and C-30) had adequate tensile properties. The percent mass change of the samples was calculated by the change in weight of the samples (Wd) from the weight of samples after immersion in phosphate-buffered saline PBS (Wt). Contact angle measurement showed that all membranes were found to be hydrophilic (contact angle&lt;90). Groups containing the drug CHX (C-10CHX and C-30CHX) had significant disc diffusion antibacterial activity. Cell viability assay was carried out by Alamar Blue Assay using mouse fibroblasts NIH3T3 and pre-osteoblasts that indicated very good biocompatibility of the groups (C, C-10, C-30, and C-10CHX) while experimental group C-30CHX showed slight cytotoxicity (Cell Viability &gt;70%).
The effect of intravenous and inhalation anesthesia in general on the cognition of elderly patients undergoing non-cardiac surgery: a systematic review and meta-analysis
Authors: Huang Leilei , Zhang Yong 
Published: November 2023

BackgroundPostoperative cognitive dysfunction (POCD) is a postoperative complication that often occurs in the elderly. This systematic review and meta-analysis aimed to compare intravenous anesthetics (propofol) with inhalation anesthetics (sevoflurane) regarding the occurrence of POCD in the elderly who underwent non-cardiac surgery.MethodsThe investigators searched for published articles from the PubMed, Embase, Web of Science, Scopus, Cochrane, and Clinicalkey databases. Clinical studies comparing the incidence of POCD in elderly patients undergoing intravenous or inhalation anesthesia in general were selected. Primary outcomes included the occurrence of POCD at 1, 3, and 7 days. The secondary outcomes were the patient’s plasma S-100β protein levels (pg*mL−1) and delayed neurocognitive recovery incidence 5–7 days after surgery.ResultsFifteen studies including 3,817 patients were enrolled in the systematic review. Ten studies involving 1,829 patients were enrolled in the meta-analysis. The results demonstrate that there was no difference between the intravenous and inhalation groups in the incidence of POCD within 1–7 days (95% CI 0.73–1.26, p = 0.77) and the occurrence of delayed neurocognitive recovery 5–7 days after surgery (95% CI −353.15 to −295.44, p = 0.28). Plasma S-100β protein levels in the intravenous anesthesia group were lower than those in the inhalation group (95% CI 0.48–1.24, p &lt; 0.001).ConclusionFor elderly patients undergoing non-cardiac surgery, inhalation anesthesia was comparable to intravenous anesthesia in terms of the occurrence of short-term POCD. Inhalation anesthesia may cause greater damage to the nervous system, with delayed recovery of cognitive function after 5–7 days showing no difference.Systematic reviewidentifier (CRD42021251317).
Evaluation of the interhospital patient transfer after implementation of a regionalized trauma care system (TraumaNetzwerk DGU®) in Germany
Authors: Spering C. , Bieler D. , Ruchholtz S. , Bouillon B. , Hartensuer R. , Lehmann W. , Lefering R. , Düsing H. ,   for Committee on Emergency Medicine, Intensive Care and Trauma Management (Sektion NIS) of the German Trauma Society (DGU)
Published: November 2023

PurposeThe aim of the study was to evaluate how many patients are being transferred between trauma centers and and their characteristics in the 2006 initiated TraumaNetzwerk DGU® (TNW). We further investigated the time point of transfer and differences in outcome, compared to patients not being transferred. We wanted to know how trauma centers judged the performance of the TNW in transfer.Method(1) We analyzed the data of the TraumaRegister DGU® (TR-DGU) from 2014–2018. Included were patients that were treated in German trauma centers, maximum AIS (MAIS) &gt;2 and MAIS 2 only in case of admission on ICU or death of the patient. Patients being transferred were compared to patients who were not. Characteristics were compared, and a logistic regression analysis performed to identify predictive factors. (2) We performed a survey in the TNW focussing on frequency, timing and communication between hospitals and improvement through TNW.ResultsStudy I analyzed 143,195 patients from the TR-DGU. Their mean ISS was 17.8 points (SD 11.5). 56.4% were admitted primarily to a Level-I, 32.2% to a Level-II and 11.4% to a Level-III Trauma Center. 10,450 patients (7.9%) were transferred. 3,667 patients (22.7%) of the admitted patients of Level-III Center and 5,610 (12.6%) of Level-II Center were transferred, these patients showed a higher ISS (Level-III: 18.1 vs. 12.9; Level-II: 20.1 vs. 15.8) with more often a severe brain injury (AIS 3+) (Level-III: 43.6% vs. 13.1%; Level-II: 53.2% vs. 23.8%). Regression analysis showed ISS 25+ and severe brain injury AIS 3+ are predictive factors for patients needing a rapid transfer. Study II: 215 complete questionnaires (34%) of the 632 trauma centers. Transfers were executed within 2 h after the accident (Level-III: 55.3%; Level-II: 25.0%) and between 2–6 h (Level-III: 39.5%; Level-II: 51.3%). Most trauma centers judged that implementation of TNW improved trauma care significantly (Level III: 65.0%; Level-II: 61.4%, Level-I: 56.7%).ConclusionThe implementation of TNW has improved the communication and quality of comprehensive trauma care of severely injured patients within Germany. Transfer is mostly organized efficient. Predictors such as higher level of head injury reveal that preclinical algorithm present a potential of further improvement.
APOE4 allele-specific associations between diet, multimodal biomarkers, and cognition among Puerto Rican adults in Massachusetts
Authors: Guan Yi , Cheng Chia Hsin , Bellomo Luis I. , Narain Sriman , Bigornia Sherman J. , Garelnabi Mahdi O. , Scott Tammy , Ordovás José M. , Tucker Katherine L. , Bhadelia Rafeeque , Koo Bang-Bon 
Published: November 2023

BackgroundApolipoprotein E (APOE) is the strongest genetic risk factor for sporadic Alzheimer’s Disease (AD), and the ε4 allele (APOE4) may interact with lifestyle factors that relate to brain structural changes, underlying the increased risk of AD. However, the exact role of APOE4 in mediating interactions between the peripheral circulatory system and the central nervous system, and how it may link to brain and cognitive aging requires further elucidation. In this analysis, we investigated the association between APOE4 carrier status and multimodal biomarkers (diet, blood markers, clinical diagnosis, brain structure, and cognition) in the context of gene–environment interactions.MethodsParticipants were older adults from a longitudinal observational study, the Boston Puerto Rican Health Study (BPRHS), who self-identified as of Puerto Rican descent. Demographics, APOE genotype, diet, blood, and clinical data were collected at baseline and at approximately 12th year, with the addition of multimodal brain magnetic resonance imaging (MRI) (T1-weighted and diffusion) and cognitive testing acquired at 12-year. Measures were compared between APOE4 carriers and non-carriers, and associations between multimodal variables were examined using correlation and multivariate network analyses within each group.ResultsA total of 156 BPRHS participants (mean age at imaging = 68 years, 77% female, mean follow-up 12.7 years) with complete multimodal data were included in the current analysis. APOE4 carriers (n = 43) showed reduced medial temporal lobe (MTL) white matter (WM) microstructural integrity and lower mini-mental state examination (MMSE) score than non-carriers (n = 113). This pattern was consistent with an independent sample from the Alzheimer’s Disease Neuroimaging Initiative (ADNI) of n = 283 non-Hispanic White adults without dementia (mean age = 75, 40% female). Within BPRHS, carriers showed distinct connectivity patterns between multimodal biomarkers, characterized by stronger direct network connections between baseline diet/blood markers with 12-year blood/clinical measures, and between blood markers (especially lipids and cytokines) and WM. Cardiovascular burden (i.e., hypertension and diabetes status) was associated with WM integrity for both carriers and non-carriers.ConclusionAPOE4 carrier status affects interactions between dietary factors, multimodal blood biomarkers, and MTL WM integrity across ~12 years of follow-up, which may reflect increased peripheral-central systems crosstalk following blood–brain barrier breakdown in carriers.
The effect of acupuncture at the Taiyang acupoint on visual function and EEG microstates in myopia
Authors: Su Kangna , Wang Lihan , Wang Zhongqing , Ma Jiayao , Zhang Chao , Bi Hongsheng , Wu Jianfeng 
Published: November 2023

ObjectiveAcupuncture has certain effects to improve myopia visual function, but its neural mechanism is unclear. In this study, we acupunctured at the right Taiyang acupoint of myopic patients to analyze the effects of acupuncture on visual function and electroencephalographic activity and to investigate the correlation between improvements in visual function and changes in the brain.MethodsIn this study, a total of 18 myopic patients were recruited. The contrast sensitivity (CS) of the subjects was examined before and after acupuncture, and electroencephalography (EEG) data of the entire acupuncture process were recorded.ResultsThe study found that compared with before acupuncture, the CS of both eyes in myopic patients at each spatial frequency was increased after acupuncture; compared with the resting state, the contribution of microstate C was decreased during the post-acupuncture state, and the transition probability between microstate A and microstate C was reduced; in addition, the contribution of microstate C was negatively correlated with CS at both 12 and 18 cpd.ConclusionThe contrast sensitivity of myopic patients was improved after acupuncture at the Taiyang acupoint (20 min), which may be related to microstate C.
Workload-dependent hemispheric asymmetries during the emotion-cognition interaction: a close-to-naturalistic fNIRS study
Authors: Lingelbach Katharina , Gado Sabrina , Wirzberger Maria , Vukelić Mathias 
Published: November 2023

IntroductionWe investigated brain activation patterns of interacting emotional distractions and cognitive processes in a close-to-naturalistic functional near-infrared spectroscopy (fNIRS) study.MethodsEighteen participants engaged in a monitoring-control task, mimicking common air traffic controller requirements. The scenario entailed experiencing both low and high workload, while concurrently being exposed to emotional speech distractions of positive, negative, and neutral valence.ResultsOur investigation identified hemispheric asymmetries in prefrontal cortex (PFC) activity during the presentation of negative and positive emotional speech distractions at different workload levels. Thereby, in particular, activation in the left inferior frontal gyrus (IFG) and orbitofrontal cortex (OFC) seems to play a crucial role. Brain activation patterns revealed a cross-over interaction indicating workload-dependent left hemispheric inhibition processes during negative distractions and high workload. For positive emotional distractions under low workload, we observed left-hemispheric PFC recruitment potentially associated with speech-related processes. Furthermore, we found a workload-independent negativity bias for neutral distractions, showing brain activation patterns similar to those of negative distractions.DiscussionIn conclusion, lateralized hemispheric processing, regulating emotional speech distractions and integrating emotional and cognitive processes, is influenced by workload levels and stimulus characteristics. These findings advance our understanding of the factors modulating hemispheric asymmetries during the processing and inhibition of emotional distractions, as well as the interplay between emotion and cognition. Moreover, they emphasize the significance of exploring emotion-cognition interactions in more naturalistic settings to gain a deeper understanding of their implications in real-world application scenarios (e.g., working and learning environments).
Distinct patterns of personalised dietary advice delivered by a metabotype framework similarly improve dietary quality and metabolic health parameters: secondary analysis of a randomised controlled trial
Authors: Hillesheim Elaine , Brennan Lorraine 
Published: November 2023

BackgroundIn a 12-week randomised controlled trial, personalised nutrition delivered using a metabotype framework improved dietary intake, metabolic health parameters and the metabolomic profile compared to population-level dietary advice. The objective of the present work was to investigate the patterns of dietary advice delivered during the intervention and the alterations in dietary intake and metabolic and metabolomic profiles to obtain further insights into the effectiveness of the metabotype framework.MethodsForty-nine individuals were randomised into the intervention group and subsequently classified into metabotypes using four biomarkers (triacylglycerol, HDL-C, total cholesterol, glucose). These individuals received personalised dietary advice from decision tree algorithms containing metabotypes and individual characteristics. In a secondary analysis of the data, patterns of dietary advice were identified by clustering individuals according to the dietary messages received and clusters were compared for changes in dietary intake and metabolic health parameters. Correlations between changes in blood clinical chemistry and changes in metabolite levels were investigated.ResultsTwo clusters of individuals with distinct patterns of dietary advice were identified. Cluster 1 had the highest percentage of messages delivered to increase the intake of beans and pulses and milk and dairy products. Cluster 2 had the highest percentage of messages delivered to limit the intake of foods high in added sugar, high-fat foods and alcohol. Following the intervention, both patterns improved dietary quality assessed by the Alternate Mediterranean Diet Score and the Alternative Healthy Eating Index, nutrient intakes, blood pressure, triacylglycerol and LDL-C (p ≤ 0.05). Several correlations were identified between changes in total cholesterol, LDL-C, triacylglycerol, insulin and HOMA-IR and changes in metabolites levels, including mostly lipids (sphingomyelins, lysophosphatidylcholines, glycerophosphocholines and fatty acid carnitines).ConclusionThe findings indicate that the metabotype framework effectively personalises and delivers dietary advice to improve dietary quality and metabolic health.Clinical trial registrationisrctn.com, identifier ISRCTN15305840.