bluuebunny/crossref_metadata_2025_split huggingface dataset:
Clinical and molecular cytogenetic studies of five new patients with 20q11q12 deletion and review of the literature: Proposition of two critical regions
Authors: Bensaid Souad , Bendahmane Malika , Loddo Sara , Poke Gemma , Januel Louis , Nicolle Romain , Malan Valérie , Chatron Nicolas , Ottombrino Silvia , Dentici Maria Lisa , Novelli Antonio , Digilio Maria Cristina , Sanlaville Damien 
Published: March 2024

AbstractDeletions of the long arm of chromosome 20 (20q) are rare, with only 16 reported patients displaying a proximal interstitial 20q deletion. A 1.62 Mb minimal critical region at 20q11.2, encompassing three genes GDF5, EPB41L1, and SAMHD1, is proposed to be responsible for this syndrome. The leading clinical features include growth retardation, intractable feeding difficulties with gastroesophageal reflux, hypotonia and psychomotor developmental delay. Common facial dysmorphisms including triangular face, hypertelorism, and hypoplastic alae nasi were additionally reported. Here, we present the clinical and molecular findings of five new patients with proximal interstitial 20q deletions. We analyzed the phenotype and molecular data of all previously reported patients with 20q11.2q12 microdeletions, along with our five new cases. Copy number variation analysis of patients in our cohort has enabled us to identify the second critical region in the 20q11.2q12 region and redefine the first region that is initially identified. The first critical region spans 359 kb at 20q11.2, containing six MIM genes, including two disease‐causing genes, GDF5 and CEP250. The second critical region spans 706 kb at 20q12, encompassing four MIM genes, including two disease‐causing genes, MAFB and TOP1. We propose GDF5 to be the primary candidate gene generating the phenotype of patients with 20q11.2 deletions. Moreover, we hypothesize TOP1 as a potential candidate gene for the second critical region at 20q12. Of note, we cannot exclude the possibility of a synergistic role of other genes involved in the deletion, including a contiguous gene deletion syndrome or position effect affecting both critical regions. Further studies focusing on patients with proximal 20q deletions are required to support our hypothesis.
A further case of chondrodysplasia with growth failure occurring after hematopoietic stem cell transplantation (HSCT)
Authors: Kavanagh K. , Coleman J. , O'Connell S. M. , Fhoghlú C. Ní , Moore D. P. , Brenner C. , Lynch S. A. 
Published: March 2024

AbstractThere is an emerging body of evidence showing that young patients, post haematopoietic stem cell transplantation (HSCT), can develop skeletal changes that mimic an osteochondrodysplasia process. The key discriminator is that these children have had otherwise normal growth and skeletal development before the therapeutic intervention (HSCT), typically for a haematological malignancy. Herein we present that case of a boy who underwent HSCT for Haemophagocytic Lymphohistiocytosis (HLH) aged 2 years. Following Intervention with HSCT this boy's growth has severely decelerated (stature less than 1st centile matched for age) and he has developed a spondyloepiphyseal dysplasia.
14q22.3 duplication including OTX2 in a girl with medulloblastoma: A case report with literature review
Authors: Blake Claire , Widmeyer Kimmie , DAquila Kristen , Mochizuki Aaron , Smolarek Teresa A. , Pillay‐Smiley Natasha , Kim Sun Young 
Published: March 2024

AbstractOrthodenticle homeobox 2 (OTX2) is a known oncogenic driver of medulloblastoma. Germline duplication of 14q22.3 including OTX2 is a rare condition reported in patients with combined pituitary hormone deficiency, oculo‐auriculo‐vertebral spectrum, and hemifacial microsomia. There has been one previously published case of a patient carrying a 14q22.3 duplication that included OTX2 with hemifacial microsomia who also developed medulloblastoma. Here, we present a case of a 6‐year‐old girl with a history of delayed development who was diagnosed with medulloblastoma. Genetic evaluations revealed that she inherited a germline duplication of 14q22.3, which included OTX2. This genetic alteration was passed down from her mother, who also had a history of delayed development. Results from other genetic testing, including exome sequencing, fragile X syndrome, and mtDNA testing, were negative/normal. This is the second report of a 14q22.3 duplication that included OTX2 in a patient with medulloblastoma. Further studies are necessary to establish a clear association.
Aktivierung von Diorganyl‐bis(pyridylimino)isoindolid‐Aluminiumkomplexen mit sichtbarem Licht und deren organometallische Radikalreaktivität
Authors: Wenzel Jonas O. , Werner Johannes , Allgaier Alexander , van Slageren Joris , Fernández Israel , Unterreiner Andreas‐Neil , Breher Frank 
Published: March 2024

AbstractWir berichten über die Synthese und Charakterisierung einer Reihe von weitgehend luftstabilen Diorganyl‐bis(pyridylimino)isoindolid(BPI)−Aluminiumkomplexen und deren Reaktivität durch elektronische Anregung mittels sichtbarem Licht. Der redox‐aktive, “nicht‐unschuldige” BPI‐Pinzettenligand ermöglicht eine effiziente Charge‐Transfer‐Homolyse der Al−C‐Bindung. Dadurch dienen die vorgestellten Verbindungen als Ausgangsmaterialien für die Generierung von kohlenstoffzentrierten Radikalen. Die photo‐induzierte homolytische Spaltung der Al−C‐Bindung wurde mittels stationärer und transienter UV/Vis‐Spektroskopie, Abfangexperimenten der entsprechenden Radikale, sowie EPR‐ und NMR‐Spektroskopie analysiert und zudem mithilfe von quantenchemischen Rechnungen untersucht. Studien zur Reaktivität der entsprechenden Aluminiumkomplexe ermöglichten deren Nutzung als Reagenzien in Giese‐artigen Reaktionen und der Alkylierung von organischen Carbonylverbindungen, wobei Hinweise auf einen Wechsel von radikalischen zu polaren Mechanismen (radical‐polar‐crossover) gefunden wurden. Durch diese Arbeit wurde ein vertieftes Verständnis der physikalischen Hintergründe und der ablaufenden photochemischen Prozesse generiert, wodurch eine neue Strategie der Reaktionskontrolle von luftstabilen Organometallverbindungen des Aluminiums etabliert wurde.
Palladium(II)‐katalysierte nicht‐dirigierte late‐stage C(sp2)−H Deuterierung von Heteroaromaten ermöglicht über einen Multi‐Substrat‐Screening‐Ansatz
Authors: Dey Jyotirmoy , Kaltenberger Simon , van Gemmeren Manuel 
Published: March 2024

AbstractDie Bedeutung deuterierter Verbindungen für eine Vielzahl von Anwendungen, die von mechanistischen Studien bis hin zur Entdeckung von Arzneimitteln reichen, hat erhebliches Interesse an der Entwicklung neuer Methoden für den effizienten Einbau von Deuterium in organische und insbesondere in bioaktive Moleküle geweckt. Fünfgliedrige Heteroaromaten, die im Zentrum dieser Arbeit stehen, sind omnipräsente Motive in bioaktiven Molekülen und die Entwicklung effizienter Methoden zur Deuterierung dieser Verbindungen ist daher ein äußerst wichtiges Ziel der organischen Synthesechemie. Die signifikanten Unterschiede in den chemischen Eigenschaften verschiedener Heteroaromaten erschweren jedoch die Entwicklung allgemein anwendbarer Reaktionsbedingungen, so dass häufig eine separate Optimierungskampagne für jede unterschiedliche Heteroaromatenklasse erforderlich ist. In dieser Studie beschreiben wir die Verwendung eines Multi‐Substrat‐Screening‐Ansatzes, um optimale Reaktionsbedingungen für verschiedene Klassen von Heteroaromaten mit einer minimalen Anzahl von Screening‐Reaktionen zu ermitteln. Mithilfe dieses Ansatzes wurden, aufbauend auf unseren zwei Liganden‐basierten Palladiumkatalysatoren für die nicht‐dirigierte C(sp2)−H Aktivierung von Aromaten, vier komplementärere Reaktionsbedingungen identifiziert, die zusammen die Deuterierung strukturell vielseitiger Heteroaromaten, einschließlich bioaktiver Moleküle, ermöglichen.
The encapsulation and controlled release of proteins from “meltable” chemically cross‐linked hydrogels
Authors: Leung Cheney C. H. , Dura Gema , Waller Helen , Lakey Jeremy H. , Fulton David A. 
Published: March 2024

AbstractChemically crosslinked hydrogels can be used for the controlled delivery of therapeutic proteins, however, cargo loading can be challenging. A common approach involves performing the hydrogel crosslinking step in the presence of the cargo proteins, however, this can require the utilization of selective chemistries to ensure the cargos do not chemically react with the forming hydrogel network. We demonstrate that chemically crosslinked hydrogels based upon the protein polymer Capsular antigen fragment 1 (Caf1) can be used to encapsulate proteins within a chemically crosslinked hydrogel network. This encapsulation exploits the “meltable” feature of Caf1 hydrogels, where upon heating the Caf1 protein unfolds with concomitant depolymerization of the hydrogel network. Protein cargos can be loaded into the “molten” form of the hydrogel which cools with protein refolding and concomitant reformation of the hydrogel network to entrap the cargos, ensuring a more homogenous dispersion of the cargo. Analysis of release profiles indicated lower burst release in comparison to release from identical hydrogels loaded by an absorption method. This work is significant because it suggest that the “meltable” feature of Caf1 hydrogels may present an improved method of loading protein cargos into crosslinked hydrogel networks whilst avoiding the need for crosslinking chemistries.
Preparation of interwoven structure composite paper via polylactic acid infiltrating fiber network
Authors: Liu Yifan , Wang Liqiang , Wang Feijie , Ma Shufeng 
Published: March 2024

AbstractCellulose is commonly acknowledged as a sustainable material owing to its abundance and renewability. However, the abundance of hydroxyl groups makes the paper material highly hydrophilic, and the hydrogen bonds between the fibers are easily broken by water, leading to the degradation of mechanical properties. This work details the fabrication of a composite paper comprising interwoven cellulose and polylactic acid (PLA) structures through hot‐pressing and PLA impregnation onto handwritten paper derived from conventional wood pulp fibers as the substrate. The investigation assessed how varying PLA concentrations influenced the overall characteristics of the composite paper, including its morphology, structure, mechanical properties, water absorption behavior, and water contact angle. Experimental results revealed that the composite paper fabricated through our approach exhibited an intertwined structure comprising both PLA and cellulose. With a tensile index reaching 33.24 kN·m/kg and a mere 31.1% loss in tensile index post‐water treatment, the mechanical properties of the composite paper were significantly enhanced due to the robust interfacial compatibility between cellulose and PLA, as well as the adhesive effect of PLA. Furthermore, the composite paper (CP) is easily processable and amenable to thermoforming into paper trays as required, indicative of its potential applications in the packaging industry.
Synchronous hybrid brain–computer interfaces for recognizing emergency braking intention
Authors: Ju Jiawei , Feleke Aberham Genetu , Li Hongqi , Li Haiyang 
Published: March 2024

AbstractHybrid neurophysiological signals, such as the combination of electroencephalography (EEG) and electromyography (EMG), can be used to reduce road traffic accidents by obtaining the driver's intentions in advance and accordingly applying appropriate auxiliary controls. However, whether they can be used in combination and can achieve better results in situations of detecting emergency braking from normal driving and soft braking has not been explored. This study used one feature‐level (hybrid BCI‐FL) and three classifier‐level (hybrid BCIs‐CLs) hybrid strategies, the spectral band, and spectral point features to construct recognition models. Offline and pseudo‐online experiments were conducted. The recognition performance with the spectral point features showed a better result than that with spectral band features. In all experiments, the two proposed hybrid BCI strategies could achieve a detection accuracy close to or above 95%, while the detection advanced time is less than 300 ms. In particular, for the developed hybrid BCI recognition models, the hybrid BCI‐FL and hybrid BCI‐CL2 recognition models with spectral point features achieved 4.25% (p < 0.015) and 4.69% (p < 0.006) higher system accuracies, respectively, than that of the current better single EMG‐based recognition model. This research promotes the application of hybrid EEG and EMG signals in intelligent driving assistance systems.
Synthesis and in vitro Anti‐Inflammatory Activity of Novel Dendrobine Amide/Sulfonamide Derivatives
Authors: Jiao Zi‐Wei , Liu Han‐Fei , Lin Kai‐Qin , Xie Guang‐Tong , Lou Hua‐Yong , Pan Wei‐Dong , Zhang Mao‐Sheng 
Published: March 2024

AbstractA traditional Chinese medicine ingredient, dendrobine, has been demonstrated to have anti‐inflammatory properties. However, due to its poor anti‐inflammatory properties, its clinical use is limited. Consequently, we have designed and synthesized 32 new amide/sulfonamide dendrobine derivatives and screened their anti‐inflammatory activities in vitro. Experiments showed that nitric oxide (NO) generation in lipopolysaccharide (LPS)‐induced RAW264.7 cells was strongly reduced by derivative 14, with an IC50 of 2.96 μM. Western blot research revealed that 14 decreased the concentration‐dependent expression of cyclooxygenase‐2 (COX‐2) and inducible nitric oxide synthase (INOS). Molecular docking was used to predict the binding of the inflammation‐associated proteins COX‐2 and INOS to compound 14.
The interaction between lncRNAs and transcription factors regulating autophagy in human cancers: A comprehensive and therapeutical survey
Authors: Jasim Saade Abdalkareem , Almajidi Yasir Qasim , Al‐Rashidi Reyadh R. , Hjazi Ahmed , Ahmad Irfan , Alawadi Ahmed Hussien Radie , Alwaily Enas R. , Alsaab Hashem O. , Haslany Ali , Hameed Mohamood 
Published: March 2024

AbstractAutophagy, as a highly conserved cellular process, participates in cellular homeostasis by degradation and recycling of damaged organelles and proteins. Besides, autophagy has been evidenced to play a dual role through cancer initiation and progression. In the early stage, it may have a tumor‐suppressive function through inducing apoptosis and removing damaged cells and organelles. However, late stages promote tumor progression by maintaining stemness features and induction of chemoresistance. Therefore, identifying and targeting molecular mechanisms involved in autophagy is a potential therapeutic strategy for human cancers. Multiple transcription factors (TFs) are involved in the regulation of autophagy by modulating the expression of autophagy‐related genes (ATGs). In addition, a wide array of long noncoding RNAs (lncRNAs), a group of regulatory ncRNAs, have been evidenced to regulate the function of these autophagy‐related TFs through tumorigenesis. Subsequently, the lncRNAs/TFs/ATGs axis shows great potential as a therapeutic target for human cancers. Therefore, this review aimed to summarize new findings about the role of lncRNAs in regulating autophagy‐related TFs with therapeutic perspectives.
Tolerogenic probiotics Lactobacillus delbrueckii and Lactobacillus rhamnosus promote anti‐inflammatory profile of macrophages‐derived monocytes of newly diagnosed patients with systemic lupus erythematosus
Authors: Javanmardi Zahra , Mahmoudi Mahmoud , Rafatpanah Houshang , Rezaieyazdi Zahra , Shapouri‐Moghaddam Abbas , Ahmadi Parisa , Mollazadeh Samaneh , Tabasi Nafiseh Sadat , Esmaeili Seyed‐Alireza 
Published: March 2024

AbstractSystemic lupus erythematosus (SLE) is known as an autoimmune disorder that is characterized by the breakdown of self‐tolerance, resulting in disease onset and progression. Macrophages have been implicated as a factor in the development of SLE through faulty phagocytosis of dead cells or an imbalanced M1/M2 ratio. The study aimed to investigate the immunomodulatory effects of Lactobacillus delbrueckii and Lactobacillus rhamnosus on M1 and M2 macrophages in new case lupus patients. For this purpose, blood monocytes were collected from lupus patients and healthy people and were cultured for 5 days to produce macrophages. For 48 h, the macrophages were then cocultured with either probiotics or lipopolysaccharides (LPS). Flow cytometry and real‐time polymerase chain reaction were then used to analyze the expression of cluster of differentiation (CD) 14, CD80, and human leukocyte antigen – DR (HLADR) markers, as well as cytokine expression (interleukin [IL]1‐β, IL‐12, tumor necrosis factor α [TNF‐α], IL‐10, and transforming growth factor beta [TGF‐β]). The results indicated three distinct macrophage populations, M0, M1, and M2. In both control and patient‐derived macrophage‐derived monocytes (MDMs), the probiotic groups showed a decrease in CD14, CD80, and HLADR expression compared to the LPS group. This decrease was particularly evident in M0 and M2 macrophages from lupus patients and M1 macrophages from healthy subjects. In addition, the probiotic groups showed increased levels of IL‐10 and TGF‐β and decreased levels of IL‐12, IL1‐β, and TNF‐α in MDMs from both healthy and lupus subjects compared to the LPS groups. Although there was a higher expression of pro‐inflammatory cytokines in lupus patients, there was a higher expression of anti‐inflammatory cytokines in healthy subjects. In general, L. delbrueckii and L. rhamnosus could induce anti‐inflammatory effects on MDMs from both healthy and lupus subjects.
Aglycemia induces apoptosis under hypoxic conditions in A549 cells
Authors: Öğünç Keçeci Yüksel , İncesu Zerrin 
Published: March 2024

AbstractMany of the cancer cells produce energy with accelerated glycolysis and perform lactic acid production even under normoxic conditions called the “Warburg effect”. Metabolism can directly or indirectly regulate the apoptotic mechanism so that cancer cells take advantage of reprogrammed metabolism to avoid apoptosis. The aim of this study is to examine the mechanism of apoptosis by incubating human lung carcinoma cells (A549) under different metabolic conditions in hypoxia or normoxia environments. A549 cells were incubated in the normoxic or hypoxic condition that contained 5 mM glucose (Glc 5), 25 mM glucose (Glc 25), or 10 mM galactose (OXPHOS/aglycemic), and the mechanism of apoptosis was investigated. In the hypoxia condition, the rate of early apoptosis in aglycemic OXPHOS cells was increased (15.5% ±7.1). In addition, the activity of caspase‐3 (6.1% ± 0.9), caspase‐9 (30.4% ± 0.9), and cytochrome c expression level increased; however, the mitochondrial membrane potential (51.9% ± 0.4) was found to be decreased. Changing the amount of oxygen in glycolytic cells had no effect on apoptosis. However, it has been determined that apoptosis is stimulated under hypoxia conditions in aglycemic cells in which galactose is used instead of glucose. Considering that the majority of cancer cells are hypoxic, these data are important in determining targets in therapeutic intervention.
The association between ferroptosis and autophagy in cardiovascular diseases
Authors: Zhang Yifan , Yang Junjun , Ouyang Chenxi , Meng Ning 
Published: March 2024

AbstractAutophagy is a process in which cells degrade intracellular substances and play a variety of roles in cells, such as maintaining intracellular homeostasis, preventing cell overgrowth, and removing pathogens. It is highly conserved during the evolution of eukaryotic cells. So far, the study of autophagy is still a hot topic in the field of cytology. Ferroptosis is an iron‐dependent form of cell death, accompanied by the accumulation of reactive oxygen species and lipid peroxides. With the deepening of research, it has been found that ferroptosis, like autophagy, is involved in the occurrence and development of cardiovascular diseases. The relationship between autophagy and ferroptosis is complex, and the association between the two in cardiovascular disease remains to be clarified. This article reviews the mechanism of autophagy and ferroptosis and their correlation, and discusses the relationship between them in cardiovascular diseases, which is expected to provide new and important treatment strategies for cardiovascular diseases.
Longitudinal quality of life after sublobar resection and stereotactic body radiation therapy for early‐stage non–small cell lung cancer
Authors: Wisnivesky Juan P. , Mudd Jeremy , Stone Kimberly , Slatore Christopher G. , Flores Raja , Swanson Scott , Blackstock William , Smith Cardinale B. , Chidel Mark , Rosenzweig Kenneth , Henschke Claudia , Kern Jeffrey A. 
Published: March 2024

AbstractBackgroundMany patients with early‐stage lung cancer are not candidates for lobectomy because of various factors, with treatment options including sublobar resection or stereotactic body radiation therapy (SBRT). Limited information exists regarding patient‐centered outcomes after these treatments.MethodsSubjects with stage I–IIA non–small cell lung cancer (NSCLC) at high risk for lobectomy who underwent treatment with sublobar resection or SBRT were recruited from five medical centers. Quality of life (QOL) was compared with the Short Form 8 (SF‐8) for physical and mental health and Functional Assessment of Cancer Therapy–Lung (FACT‐L) surveys at baseline (pretreatment) and 7 days, 30 days, 6 months, and 12 months after treatment. Propensity score methods were used to control for confounders.ResultsOf 337 subjects enrolled before treatment, 63% received SBRT. Among patients undergoing resection, 89% underwent minimally invasive video‐assisted thoracic surgery or robot‐assisted resection. Adjusted analyses showed that SBRT‐treated patients had both higher physical health SF‐8 scores (difference in differences [DID], 6.42; p = .0008) and FACT‐L scores (DID, 2.47; p = .004) at 7 days posttreatment. Mental health SF‐8 scores were not different at 7 days (p = .06). There were no significant differences in QOL at other time points, and all QOL scores returned to baseline by 12 months for both groups.ConclusionsSBRT is associated with better QOL immediately posttreatment compared with sublobar resection. However, both treatment groups reported similar QOL at later time points, with a return to baseline QOL. These findings suggest that sublobar resection and SBRT have a similar impact on the QOL of patients with early‐stage lung cancer deemed ineligible for lobectomy.
The influence of market and institutional factors on ESG rating disagreement
Authors: Rubino Michele , Mastrorocco Ilaria , Garegnani Giovanni Maria 
Published: March 2024

AbstractThe lack of convergence between rating agencies in the assessment of environmental, social, and governance (ESG) aspects of companies leads to the so‐called ESG rating disagreement. Although this phenomenon causes confusion and uncertainty among investors, it is still little investigated. Previous research has only focused on some determinants of the disagreement, mainly related to nonfinancial disclosure and corporate aspects, while broader determinants remain unexplored. This study aims to fill this gap by analysing the effects of market value, industry sensitivity, and institutional context on disagreement between two different rating providers. To achieve this goal, a cross‐sectional analysis was conducted for 1809 companies from the S&P 1200 Global Index. The results show that companies with a better market rating, belonging to critical sectors and located in countries with a better institutional environment, have a lower level of ESG disagreement.