bluuebunny/crossref_metadata_2025_split huggingface dataset:
Jansen‐de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families
Authors: Wojcik Monica H. , Srivastava Siddharth , Agrawal Pankaj B. , Balci Tugce B. , Callewaert Bert , Calvo Pier Luigi , Carli Diana , Caudle Michelle , Colaiacovo Samantha , Cross Laura , Demetriou Kalliope , Drazba Katy , Dutra‐Clarke Marina , Edwards Matthew , Genetti Casie A. , Grange Dorothy K. , Hickey Scott E. , Isidor Bertrand , Küry Sébastien , Lachman Herbert M. , Lavillaureix Alinoe , Lyons Michael J. , Marcelis Carlo , Marco Elysa J. , Martinez‐Agosto Julian A. , Nowak Catherine , Pizzol Antonio , Planes Marc , Prijoles Eloise J. , Riberi Evelise , Rush Eric T. , Russell Bianca E. , Sachdev Rani , Schmalz Betsy , Shears Deborah , Stevenson David A. , Wilson Kate , Jansen Sandra , de Vries Bert B. A. , Curry Cynthia J. 
Published: May 2023

AbstractJansen‐de Vries syndrome (JdVS) is a neurodevelopmental condition attributed to pathogenic variants in Exons 5 and 6 of PPM1D. As the full phenotypic spectrum and natural history remain to be defined, we describe a large cohort of children and adults with JdVS. This is a retrospective cohort study of 37 individuals from 34 families with disease‐causing variants in PPM1D leading to JdVS. Clinical data were provided by treating physicians and/or families. Of the 37 individuals, 27 were male and 10 female, with median age 8.75 years (range 8 months to 62 years). Four families document autosomal dominant transmission, and 32/34 probands were diagnosed via exome sequencing. The facial gestalt, including a broad forehead and broad mouth with a thin and tented upper lip, was most recognizable between 18 and 48 months of age. Common manifestations included global developmental delay (35/36, 97%), hypotonia (25/34, 74%), short stature (14/33, 42%), constipation (22/31, 71%), and cyclic vomiting (6/35, 17%). Distinctive personality traits include a hypersocial affect (21/31, 68%) and moderate‐to‐severe anxiety (18/28, 64%). In conclusion, JdVS is a clinically recognizable neurodevelopmental syndrome with a characteristic personality and distinctive facial features. The association of pathogenic variants in PPM1D with cyclic vomiting bears not only medical attention but also further pathogenic and mechanistic evaluation.
CHST3‐related skeletal dysplasia in 14 patients: Identification of 8 novel variants and further expansion of the phenotypic spectrum
Authors: Otaify Ghada A. , Elhossini Rasha M. , Abdel‐Ghafar Sherif F. , Sayed Inas M. , Abdel‐Salam Ghada M. H. , Aglan Mona S. , Abdel‐Hamid Mohamed S. 
Published: May 2023

AbstractBiallelic variants in CHST3 gene result in congenital dislocation of large joints, club feet, short stature, rhizomelia, kypho‐scoliosis, platyspondyly, epiphyseal dysplasia, flared metaphysis, in addition to minor cardiac lesions and hearing loss. Herein, we describe 14 new patients from 11 unrelated Egyptian families with CHST3‐related skeletal dysplasia. All patients had spondyloepiphyseal changes that were progressive with age in addition to bifid distal ends of humeri which can be considered a diagnostic key in patients with CHST3 variants. They also shared peculiar facies with broad forehead, broad nasal tip, long philtrum and short neck. Rare unusual associated findings included microdontia, teeth spacing, delayed eruption, prominent angulation of the lumbar‐sacral junction and atrial septal defect. Mutational analysis revealed 10 different homozygous CHST3 (NM_004273.5) variants including 7 missense, two frameshift and one nonsense variant. Of them, the c.384_391dup (p.Pro131Argfs*88) was recurrent in two families. Eight of these variants were not described before. Our study presents the largest series of patients with CHST3‐related skeletal dysplasia from the same ethnic group. Furthermore, it reinforces that lethal cardiac involvement is a critical clinical finding of the disorder. Therefore, we believe that our study expands the phenotypic and mutational spectrum, and also highlights the importance of performing echocardiography in patients harboring CHST3 variants.
Outcomes of limited versus extensive surgery for chronic rhinosinusitis: A systematic review and meta‐analysis
Authors: Ramkumar Shreya P. , Marks Lisa , Lal Devyani , Marino Michael J. 
Published: May 2023

Key points
There is no consensus on the extent of appropriate surgery for chronic rhinosinusitis (CRS), particularly CRS without polyps (CRSsNP).
There is wide heterogeneity in the definition of “limited” and “extensive” endoscopic sinus surgery (ESS).
Studies on the appropriate extent of surgery for CRS are needed.
40 Years of Low‐Temperature Electrolytes for Rechargeable Lithium Batteries
Authors: Li Zeheng , Yao Yu‐Xing , Sun Shuo , Jin Cheng‐Bin , Yao Nan , Yan Chong , Zhang Qiang 
Published: May 2023

AbstractRechargeable lithium batteries are one of the most appropriate energy storage systems in our electrified society, as virtually all portable electronic devices and electric vehicles today rely on the chemical energy stored in them. However, sub‐zero Celsius operation, especially below −20 °C, remains a huge challenge for lithium batteries and greatly limits their application in extreme environments. Slow Li+diffusion and charge transfer kinetics have been identified as two main origins of the poor performance of RLBs under low‐temperature conditions, both strongly associated with the liquid electrolyte that governs bulk and interfacial ion transport. In this review, we first analyze the low‐temperature kinetic behavior and failure mechanism of lithium batteries from an electrolyte standpoint. We next trace the history of low‐temperature electrolytes in the past 40 years (1983–2022), followed by a comprehensive summary of the research progress as well as introducing the state‐of‐the‐art characterization and computational methods for revealing their underlying mechanisms. Finally, we provide some perspectives on future research of low‐temperature electrolytes with particular emphasis on mechanism analysis and practical application.
Extending the π‐Conjugated System in Spiro‐Type Hole Transport Material Enhances the Efficiency and Stability of Perovskite Solar Modules
Authors: Liu Xuepeng , Ding Bin , Han Mingyuan , Yang Zhenhai , Chen Jianlin , Shi Pengju , Xue Xiangying , Ghadari Rahim , Zhang Xianfu , Wang Rui , Brooks Keith , Tao Li , Kinge Sachin , Dai Songyuan , Sheng Jiang , Dyson Paul J. , Nazeeruddin Mohammad Khaja , Ding Yong 
Published: May 2023

AbstractHole transport materials (HTMs) are a key component of perovskite solar cells (PSCs). The small molecular 2,2′,7,7′‐tetrakis(N,N‐di‐p‐methoxyphenyl)‐amine‐9,9′‐spirobifluorene (spiro‐OMeTAD, termed “Spiro”) is the most successful HTM used in PSCs, but its versatility is imperfect. To improve its performance, we developed a novel spiro‐type HTM (termed “DP”) by substituting four anisole units on Spiro with 4‐methoxybiphenyl moieties. By extending the π‐conjugation of Spiro in this way, the HOMO level of the HTM matches well with the perovskite valence band, enhancing hole mobility and increasing the glass transition temperature. DP‐based PSC achieves high power conversion efficiencies (PCEs) of 25.24 % for small‐area (0.06 cm2) devices and 21.86 % for modules (designated area of 27.56 cm2), along with the certified efficiency of 21.78 % on a designated area of 27.86 cm2. The encapsulated DP‐based devices maintain 95.1 % of the initial performance under ISOS‐L‐1 conditions after 2560 hours and 87 % at the ISOS‐L‐3 conditions over 600 hours.
Sequential Multistep Excited‐State Structural Transformations in N,N′‐Diphenyl‐dihydrodibenzo[a,c]phenazine Fluorophores
Authors: Jin Xin , Guo Shiyan , Wang Xueli , Cong Muyu , Chen Jinquan , Zhang Zhiyun , Su Jianhua , Qu Da‐Hui , Tian He 
Published: May 2023

AbstractWe demonstrate that a single polycyclic π‐scaffold can undergo sequential multistep excited‐state structural evolution along the bent, planar, and twisted conformers, which coexist to produce intrinsic multiple fluorescence emissions in room‐temperature solution. By installing a methyl or trifluoromethyl group on the ortho‐site of N,N′‐diphenyl‐dihydrodibenzo[a,c]phenazine (DPAC), the enhanced steric effects change the fluorescence emission of DPAC from a dominant red band to well‐resolved triple bands. The ultra‐broadband triple emissions of ortho‐substituted DPACs range from ≈350 to ≈850 nm, which is unprecedented for small fluorophores with molecular weight of <500. Ultrafast spectroscopy and theoretical calculations clearly reveal that the above dramatic changes originate from the influence of steric hindrance on the shape of excited state potential energy surface (S1 PES). Compared to the steep S1 PES of parental DPAC, the introduction of ortho‐substituent is shown to make the path of structural evolution in S1 wider and flatter, so the ortho‐substituted derivatives exhibit slower structural transformations from bent to planar and then to twisted forms, yielding intrinsic triple emission. The results provide the proof of concept that the bent, planar, and twisted emissive states can coexist in the same S1 PES, which greatly expand the fundamental understanding of the excited‐state structural relaxation.
Photo‐ and Electrochemical Cobalt Catalysed Hydrogen Atom Transfer for the Hydrofunctionalisation of Alkenes
Authors: Jana Samikshan , Mayerhofer Victor J. , Teskey Christopher J. 
Published: May 2023

AbstractCatalytic hydrogen atom transfer from metal‐hydrides to alkenes allows feedstock olefins to be used as alkyl radical precursors. The chemoselectivity of this process makes it an attractive synthetic tool and as such it has been regularly used in synthesis of complex molecules. However, onwards reactivity is limited by compatibility with the conditions which form the key metal‐hydride species. Now, through the merger with photocatalysis or electrochemistry, milder methods are emerging which can unlock entirely new reactivity and offer perspectives on expanding these methods in unprecedented directions. This review outlines the most recent developments in electro‐ and photochemical cobalt catalysed methods and offers suggestions on the future outlook.
Biocompatible poly(glycerol sebacate) base segmented co‐polymer with interesting chemical structure and tunable mechanical properties: In vitro and in vivo study
Authors: Arabsorkhi‐Mishabi Amirhesam , Zandi Mojgan , Askari Fahimeh , Pezeshki‐Modaress Mohamad 
Published: May 2023

AbstractIn this study, different polycaprolactone (PCL) soft blocks were incorporated into poly(glycerol sebacate) (PGS) structure to prepare a series of PGS‐based elastomers with a wide range of chemical compositions, mechanical properties, and modulated degradation behavior. The PGS and PGS‐co‐PCL elastomers were prepared under a thermal curing process in the absence of any catalysts. Here, in addition to the effect of different lengths of PCL block, the effect of thermal curing time on the mechanical properties and degradation behavior of the elastomers was investigated. The synthesized PGS‐co‐PCL elastomers exhibited tunable mechanical properties in the range of soft tissues. Moreover, the in vitro degradation study revealed linear degradation kinetics with approximately twofold decrease in the elastomers degradation rate. In vitro study showed that proliferation of human olfactory ecto‐mesenchymal stem cells (OE‐MSCs) was supported on PGS‐co‐PCL elastomer. In addition, in vivo evaluation of PGS‐co‐PCL elastomer confirmed mild tissue response with high angiogenesis, indicating a good candidate in various biomedical applications and soft tissue engineering.
Effect of monomer moieties on the aggregate structure and gas transport properties of polyimides: Insights from experiments and simulations
Authors: Tan Jinghua , Chen Yufen , Huang Jie , Fei Linfeng , Jiang Linbing , Wu Di , Sun Wei , Zhang Hailiang , Liu Yiwu 
Published: May 2023

AbstractTFDB‐based PIs (BTDA‐TFDB, PMDA‐TFDB and 6FDA‐TFDB) were prepared by the polymerization of 2,2′‐bis(trifluoromethyl) benzidine (TFDB) with three different dianhydrides, which contained flexible carbonyl bridged unit, rigid‐rod moiety without bridged unit, and bulky CF3 bridged unit in dianhydride moieties, respectively. The influence of dianhydride moieties on the aggregate structure and gas permeation performances of polyimide was systematically investigated in relation to their chain packing and free volumes, using the methods of molecular simulation, positron annihilation measurement and X‐ray diffractogram. Changing the dianhydride from benzophenonetetracarboxylic dianhydride (BTDA) to pyromellitic dianhydride (PMDA) and 4,4′‐(hexafluoroisopropylidene) diphthalic anhydride (6FDA), the gas permeation coefficients of polyimide increased, and the gas permeation selectivity (O2/N2, CO2/N2, H2/N2 and CO2/CH4) decreased. With the introduction of flexible carbonyl bridged unit into dianhydride moiety, the high rotational mobility favored tight chains packing and decreased free volumes, which in turn led to the lowest permeation coefficients of BTDA‐TFDB. The bulky CF3 bridged unit in dianhydride moiety greatly restricted chain packing and increased free volumes, thus resulting in the highest permeation coefficients of 6FDA‐TFDB. From BTDA‐TFDB to PMDA‐TFDB and 6FDA‐TFDB, the permeation selectivity decreased. This was mostly ascribed to the reduction of diffusive selectivity, which was resulted from the increase in free volumes.
A long but fruitful journey: From clinical psychoanalysis to public mental health in Chile
Authors: Jiménez Juan Pablo , de la Parra Guillermo 
Published: May 2023

AbstractThe authors, both professors of psychiatry, trained as psychoanalysts according to the standards of the International Psychoanalytic Association (IPA), recount 30 years of conceptual and empirical research work for the construction of a model of brief and adaptive psychodynamic psychotherapy applicable at the Primary Health Care level. The many milestones of this journey are reviewed, starting with the difficulties and obstacles encountered when pursuing this task within IPA institutions. Once the authors decided to conduct the task outside the analytic institution, they created two training programs for psychodynamic therapists and a research group in psychotherapy, all of which have attained excellence. This effort gave birth to several institutions that are still in operation, such as the Chilean and Latin American chapters of the Society for Psychotherapy Research, the Chilean Congress of Psychotherapy, the PhD Program in Psychotherapy, and finally the Millennium Institute for Research and Personality (MIDAP). In its 8 years of existence, MIDAP has become a national and Latin American reference center for research in Mental Health, aimed at implementing preventive and psychotherapeutic interventions in vulnerable populations at the primary health care and community level. The article ends with a description of the main components and the final process of the construction of the Protocol of Psychotherapeutic Competences for the Treatment of Depression in Primary Health Care level.
Therapeutic potential of phytochemicals for cystic fibrosis
Authors: Baharara Hamed , Kesharwani Prashant , Johnston Thomas P. , Sahebkar AmirHossein 
Published: May 2023

AbstractThe aim of this review was to review and discuss various phytochemicals that exhibit beneficial effects on mutated membrane channels, and hence, improve transmembrane conductance. These therapeutic phytochemicals may have the potential to decrease mortality and morbidity of CF patients. Four databases were searched using keywords. Relevant studies were identified, and related articles were separated. Google Scholar, as well as gray literature (i.e., information that is not produced by commercial publishers), were also checked for related articles to locate/identify additional studies. The relevant databases were searched a second time to ensure that recent studies were included. In conclusion, while curcumin, genistein, and resveratrol have demonstrated effectiveness in this regard, it should be emphasized that coumarins, quercetin, and other herbal medicines also have beneficial effects on transporter function, transmembrane conductivity, and overall channel activity. Additional in vitro and in vivo studies should be conducted on mutant CFTR to unequivocally define the mechanism by which phytochemicals alter transmembrane channel function/activity, since the results of the studies evaluated in this review have a high degree of heterogenicity and discrepancy. Finally, continued research be undertaken to clearly define the mechanism(s) of action and the therapeutic effects that therapeutic phytochemicals have on the symptoms observed in CF patients in an effort to reduce mortality and morbidity.
Multiperspective quantitative tumor–stroma ratio reveals histological areas associated with poor outcomes in oral squamous cell carcinoma
Authors: Wang Shuai , Si Qian , Wu Yan , Sun Yawei , Zhang Weixian , Huang Xiaofeng , Zeng Tao , Chen Sheng , Yang Xihu , Ni Yanhong , Hu Qingang 
Published: May 2023

AbstractAimsDifferent regions of oral squamous cell carcinoma (OSCC) have particular histopathological characteristics, and the individual histological characteristics of the tumors are poorly understood. Therefore, calculating the proportion of tumor cells in different regions that allow assessment of the prognostic outcomes for OSCC patients would be of great clinical significance.Methods and ResultsWe established an open‐source software‐based analytic pipeline that defines the inner tumor and invasive tumor front (ITF) in pancytokeratin‐stained whole slide images (WSIs) and quantifies the tumor‐stroma ratio (TSR) within the two regions. We applied this method to 114 patients with OSCC and predicted patient prognosis by the TSR. The proportion of tumor area in the inner tumor was generally higher than that in the ITF (p < 0.0001). TSR was an independent prognostic factor for overall survival (OS) (p = 0.016), disease‐free survival (DFS) (p = 0.026), and relapse‐free survival (RFS) (p = 0.037) in inner tumor, and TSR was an independent prognostic factor for OS (p = 0.00052), DFS (p = 0.035), and metastasis‐free survival (MFS) (p = 0.038) in the ITF. Tumor‐low status was associated with poorer prognosis. There was a significant correlation between the TSR and perineural invasion (PNI) in the inner tumor (p = 0.009).ConclusionsThe histopathological characteristics of different regions of OSCC may be used to develop the potential prognostic markers. The TSR of the inner tumor is more targeted in predicting prognosis and accurately assesses the risk of PNI+.
Low‐energy amplitude‐modulated electromagnetic field exposure: Feasibility study in patients with hepatocellular carcinoma
Authors: Capareli Fernanda , Costa Frederico , Tuszynski Jack A. , Sousa Micelange C. , Setogute Yone de C. , Lima Pablo D. , Carvalho Luciana , Santos Elizabeth , Gumz Brenda P. , Sabbaga Jorge , de Castria Tiago B. , Jardim Denis L. , Freitas Daniela , Horvat Natally , Bezerra Regis O. F. , Testagrossa Leonardo , Costa Tiago , Zanesco Tatiana , Iemma Antonio F. , Abou‐Alfa Ghassan K. 
Published: May 2023

AbstractBackgroundPatients with advanced hepatocellular carcinoma (HCC) and poor liver function lack effective systemic therapies. Low‐energy electromagnetic fields (EMFs) can influence cell biological processes via non‐thermal effects and may represent a new treatment option.MethodsThis single‐site feasibility trial enrolled patients with advanced HCC, Child‐Pugh A and B, Eastern Cooperative Oncology Group 0–2. Patients underwent 90‐min amplitude‐modulated EMF exposure procedures every 2–4 weeks, using the AutEMdev (Autem Therapeutics). Patients could also receive standard care. The primary endpoints were safety and the identification of hemodynamic variability patterns. Exploratory endpoints included health‐related quality of life (HRQoL), overall survival (OS). and objective response rate (ORR) using RECIST v1.1.ResultsSixty‐six patients with advanced HCC received 539 AutEMdev procedures (median follow‐up, 30 months). No serious adverse events occurred during procedures. Self‐limiting grade 1 somnolence occurred in 78.7% of patients. Hemodynamic variability during EMF exposure was associated with specific amplitude‐modulation frequencies. HRQoL was maintained or improved among patients remaining on treatment. Median OS was 11.3 months (95% confidence interval [CI]: 6.0, 16.6) overall (16.0 months [95% CI: 4.4, 27.6] and 12.0 months [6.4, 17.6] for combination therapy and monotherapy, respectively). ORR was 24.3% (32% and 17% for combination therapy and monotherapy, respectively).ConclusionAutEMdev EMF exposure has an excellent safety profile in patients with advanced HCC. Hemodynamic alterations at personalized frequencies may represent a surrogate of anti‐tumor efficacy. NCT01686412.
LPCAT1 enhances the invasion and migration in gastric cancer: Based on computational biology methods and in vitro experiments
Authors: Chen Zu‐Xuan , Liang Liang , Huang He‐Qing , Li Jian‐Di , He Rong‐Quan , Huang Zhi‐Guang , Song Rui , Chen Gang , Li Jian‐Jun , Cai Zheng‐Wen , Huang Jie‐An 
Published: May 2023

AbstractBackground and AimThe biological functions and clinical implications of lysophosphatidylcholine acyltransferase 1 (LPCAT1) remain unclarified in gastric cancer (GC). The aim of the current study was to explore the possible clinicopathological significance of LPCAT1 and its perspective mechanism in GC tissues.Materials and MethodsThe protein expression and mRNA levels of LPCAT1 were detected from in‐house immunohistochemistry and public high‐throughput RNA arrays and RNA sequencing. To have a comprehensive understanding of the clinical value of LPCAT1 in GC, all enrolled data were integrated to calculate the expression difference and standard mean difference (SMD). The biological mechanism of LPCAT1 in GC was confirmed by computational biology and in vitro experiments. Migration and invasion assays were also conducted to confirm the effect of LPCAT1 in GC.ResultsBoth protein and mRNA expression levels of LPCAT1 in GC were remarkably higher than those in noncancerous controls. Comprehensively, the SMD of LPCAT1 mRNA was 1.11 (95% CI = 0.86–1.36) in GC, and the summarized AUC was 0.85 based on 15 datasets containing 1727 cases of GC and 940 cases of non‐GC controls. Moreover, LPCAT1 could accelerate the invasion and migration of GC by boosting the neutrophil degranulation pathway and disturbing the immune microenvironment.ConclusionAn increased level of LPCAT1 may promote the progression of GC.