bluuebunny/crossref_metadata_2025_split huggingface dataset:
Sustained, complete response to pexidartinib in a patient with CSF1R‐mutated Erdheim–Chester disease
Authors: Abeykoon Jithma P. , Lasho Terra L. , Dasari Surendra , Rech Karen L. , Ranatunga Wasantha K. , Manske Michelle K. , Tischer Alexander , Ravindran Aishwarya , Young Jason R. , Tobin William Oliver , Flanagan Eoin P. , Nowakowski Kevin E. , Ruan Gordon J. , Shah Mithun V. , Bennani Nabila Nora , Vassallo Robert , Ryu Jay H. , Koster Matthew J. , Davidge‐Pitts Caroline J. , Patnaik Mrinal M. , Wu Xiaosheng , Witzig Thomas E. , Goyal Gaurav , Go Ronald S. ,   Mayo Clinic‐University of Alabama at Birmingham Histiocytosis Working Group
Published: January 2022

AbstractErdheim–Chester disease (ECD) is a histiocytic neoplasm that predominantly harbors mitogen‐activated protein kinase (MAPK) pathway variants. MAPK inhibitors typically are effective treatments, but mutations outside the MAPK pathway, such as CSF1R variants, may cause refractory ECD. We describe a patient with a novel somatic mutation in CSF1R (CSF1RR549_E554delinsQ) that resulted in refractory ECD affecting the central nervous system. Cell model studies, RNA sequencing analysis, and in silico protein modeling suggested that she had a gain‐of‐function mutation occurring in a region critical for autoinhibition. The patient was treated with pexidartinib, a CSF1R inhibitor, and has had a complete clinical and metabolic response lasting more than 1.5 years to date. To our knowledge, this is the first report to describe successful treatment of a patient with ECD by using an agent that specifically targets CSF1R. This case also highlights the critical role of individualized molecular profiling to identify novel therapeutic targets in ECD.
HLA 1–3 antigen‐mismatched related peripheral blood stem cells transplantation using low‐dose antithymocyte globulin versus unrelated cord blood transplantation
Authors: Wada Fumiya , Watanabe Mizuki , Konuma Takaaki , Okabe Motohito , Kobayashi Shinichi , Uchida Naoyuki , Ikegame Kazuhiro , Tanaka Masatsugu , Sugio Yasuhiro , Mukae Junichi , Onizuka Makoto , Kawakita Toshiro , Kuriyama Takuro , Takahashi Satoshi , Fukuda Takahiro , Nakano Nobuaki , Sawa Masashi , Kimura Takafumi , Ichinohe Tatsuo , Atsuta Yoshiko , Kanda Junya ,   the Donor/Source Working Group of the Japan Society for Hematopoietic Cell Transplantation
Published: January 2022

AbstractLittle information is available regarding whether unrelated cord blood transplantation (CBT) or an HLA 1–3 antigen–mismatched related donor peripheral blood stem‐cell transplantation (PBSCT) using low‐dose anti‐thymocyte globulin (ATG) is superior as an alternative transplantation for patients who lack an HLA‐matched sibling or unrelated donor. Therefore, we evaluated 7861 patients with hematologic malignancies (aged 0 to 70 years) who received either a CBT without ATG (CBT‐no ATG, n = 7034) or an HLA 1‐3 antigen–mismatched related donor PBSCT using low‐dose ATG (PBSCT‐ATG, n = 827). CBT‐no ATG was associated with significantly better overall survival (OS) than the use of a PBSCT‐ATG (hazard ratio [HR], 0.77; p < .001), although PBSCT‐ATG patients with an HLA 1 antigen‐mismatch showed OS comparable to that in the CBT‐no ATG group. Neutrophil and platelet engraftment was significantly delayed, whereas the incidences of nonrelapse mortality, and severe graft‐versus‐host disease (GVHD) were significantly lower in the CBT‐no ATG group. The incidences of relapse and chronic GVHD were comparable between these donors. In conclusion, CBT‐no ATG may be a better alternative than HLA‐mismatched related donor PBSCT using low‐dose ATG. Notably, HLA 2‐3 antigen mismatch‐related transplantation with low‐dose ATG had significant adverse effects on transplantation outcomes.
Size at birth and accelerometer‐measured physical activity or sedentary behavior in healthy term‐born adults
Authors: Garay Jessica Leigh , Barreira Tiago V. , Wang Qiu , Brutsaert Tom D. 
Published: January 2022

AbstractThe present study investigated the relationship between birth size and activity patterns. One hundred and twenty‐four adults wore accelerometers for 7 days. Birth weight was adjusted for gestational age (AdjBW). The overall association between time spent in MVPA/day and AdjBW was not significant (B = 5.64, p = .09). MVPA/day increased by 7.02 min (p = .02) in participants 18–21 years (N = 42) and decreased by 10.8 min (p = .02) in participants 22–40 years (N = 33) per unit increase in AdjBW. The effect of birth size on adult physical activity depends on age.
Transcobalamin receptor deficiency in seven asymptomatic patients ascertained through newborn screening
Authors: Pappas Kara B. , Younan Marissa , Conway Robert 
Published: January 2022

AbstractWe report seven cases from our clinic with transcobalamin receptor deficiency (TCRD). None of our cases have experienced health issues or metabolic decompensation. All have experienced typical growth and development throughout childhood, with our oldest case now 10 years old. Every case has had normalization of initial biochemical abnormalities following parenteral hydroxocobalamin administration. Several cases had trace elevations of methylmalonic acid throughout childhood, all which normalized without further hydroxocobalamin administration. Population data from our state's newborn screening program suggest the incidence of TCRD is comparable to other metabolic disorders associated with elevations of C3 acylcarnitine including propionic academia, isolated methylmalonic academia and combined methylmalonic academia and hyperhomocysteinemia due to cobalamin metabolism disorders. Based on the generally benign nature of this condition, we assert that TCRD may be considered an incidental finding on newborn screen. However, additional long‐term data are needed to ascertain the long term outcomes of children identified with TCRD.
Surgical repair of nasal septal perforations: A systematic review and meta‐analysis
Authors: Fermin Janmaris Marin , Bui Roger , McCoul Edward , Alt Jeremiah , Avila‐Quintero Victor J. , Chang Brent A. , Yim Michael T. 
Published: January 2022

AbstractBackgroundA wide variety of techniques for the surgical repair of nasal septal perforations (NSPs) have been described. Surgical management of NSPs can be broadly divided into open versus endonasal approaches, with additional variables involving unilateral or bilateral flaps, use of grafts, and placement of splints. The objective of this study was to compare surgical approaches and their outcomes.MethodsPubMed, EMBASE, and CINAHL Plus databases were examined for patients undergoing NSP repair. English‐language studies reporting surgical management of patients with the primary diagnosis of NSP were included. Outcome measures of interest included perforation size, surgical approach characteristics, and success rate defined as complete closure assessed by surgeon postoperatively. The quality of articles was assessed with the methodological index for nonrandomized studies (MINORS) criteria. A random‐effects model was used to calculate pooled proportions for the different outcomes.ResultsThe electronic database search yielded 1076 abstracts for review. A total of 64 articles met the inclusion criteria, with 1591 patients: 1127 (71%) underwent an endonasal approach and 464 (29%) an open approach. The median (range) MINORS score was 10 (5–12) out of 16 points. Overall, 91% of patients had total closure (95% confidence interval [CI], 0.89–0.93,p < 0.01), with moderate heterogeneity between studies (I2 = 42.03%). There was no difference in closure success between open and endonasal approaches. Use of bilateral versus unilateral flaps, interposition grafts, and intranasal splints and packing were not associated with differences in outcomes.ConclusionNasal septal perforation surgical repair success rates are comparable regardless of technique.
Synthesis of 20‐Membered Macrocyclic Pseudo‐Natural Products Yields Inducers of LC3 Lipidation
Authors: Niggemeyer Georg , Knyazeva Anastasia , Gasper Raphael , Corkery Dale , Bodenbinder Pia , Holstein Julian J. , Sievers Sonja , Wu Yao‐Wen , Waldmann Herbert 
Published: January 2022

AbstractDesign and synthesis of pseudo‐natural products (PNPs) through recombination of natural product (NP) fragments in unprecedented arrangements enables the discovery of novel biologically relevant chemical matter. With a view to wider coverage of NP‐inspired chemical and biological space, we describe the combination of this principle with macrocycle formation. PNP‐macrocycles were synthesized efficiently in a stereoselective one‐pot procedure including the 1,3‐dipolar cycloadditions of different dipolarophiles with dimeric cinchona alkaloid‐derived azomethine ylides formed in situ. The 20‐membered bis‐cycloadducts embody 18 stereocenters and an additional fragment‐sized NP‐structure. After further functionalization, a collection of 163 macrocyclic PNPs was obtained. Biological investigation revealed potent inducers of the lipidation of the microtubule associated protein 1 light chain 3 (LC3) protein, which plays a prominent role in various autophagy‐related processes.
Diverse myopathological features in the congenital myasthenia syndrome with GFPT1 mutation
Authors: Jiang Kaiyan , Zheng Yilei , Lin Jing , Wu Xiaorong , Yu Yanyan , Zhu Min , Fang Xin , Zhou Meihong , Li Xiaobing , Hong Daojun 
Published: January 2022

AbstractIntroductionMutations in the GFPT1 gene are associated with a particular subtype of congenital myasthenia syndrome (CMS) called limb‐girdle myasthenia with tubular aggregates. However, not all patients show tubular aggregates in muscle biopsy, suggesting the diversity of myopathology should be further investigated.MethodsIn this study, we reported two unrelated patients clinically characterized by easy fatigability, limb‐girdle muscle weakness, positive decrements of repetitive stimulation, and response to pyridostigmine. The routine examinations of myopathology were conducted. The causative gene was explored by whole‐exome screening. In addition, we summarized all GFPT1‐related CMS patients with muscle biopsy in the literature.ResultsPathogenic biallelic GFPT1 mutations were identified in the two patients. In patient one, muscle biopsy indicated vacuolar myopathic changes and atypical pathological changes of myofibrillar myopathy characterized by desmin deposits, Z‐disc disorganization, and electronic dense granulofilamentous aggregation. In patient two, muscle biopsy showed typical myopathy with tubular aggregates. Among the 51 reported GFPT1‐related CMS patients with muscle biopsy, most of them showed tubular aggregates myopathy, while rimmed vacuolar myopathy, autophagic vacuolar myopathy, mitochondria‐like myopathy, neurogenic myopathy, and unspecific myopathic changes were also observed in some patients. These extra‐synaptic pathological changes might be associated with GFPT1‐deficiency hypoglycosylation and altered function of muscle‐specific glycoproteins, as well as partly responsible for the permanent muscle weakness and resistance to acetylcholinesterase inhibitor therapy.ConclusionsMost patients with GFPT1‐related CMS had tubular aggregates in the muscle biopsy, but some patients could show great diversities of the pathological change. The myopathological findings might be a biomarker to predict the prognosis of the disease.
Nonlinear Potential Scanning as a Novel Approach to Calculation of the Time Variable Galvanic Displacement Reaction Rate
Authors: Patsay Ihor , Maizelis Zakhar , Maizelis Antonina 
Published: January 2022

AbstractA novel approach to estimate the rate of galvanic displacement reaction was proposed, which allowed the most accurate calculation of the displacement process rate at each moment of time by exact reproducing the open‐circuit conditions. We applied the method for mild steel samples immersed in pyrophosphate‐citrate electrolyte for Cu−Zn alloy electrodeposition. The time dependences of parameters of steel‐electrolyte interaction are obtained. The rate of steel dissolution in open circuit conditions increases by 1.6–2.9 times as compared with corrosion in pyrophosphate‐citrate medium. The results of our approach were verified by an independent experiment using anodic stripping of the obtained deposits.
Pressurized Sample Infusion
Authors: Thomas Gilian T. , Donnecke Sofia , Chagunda Ian C. , McIndoe J. Scott 
Published: January 2022

AbstractInvited for this month's cover is the group of Scott McIndoe at the University of Victoria (Canada). The cover picture shows a pressurized reaction vessel with tubing leading out of the flask. That tubing normally leads directly into an electrospray ionization mass spectrometer, where the mass‐to‐charge ratio and relative abundance of the solution phase ions are measured. These data can be used to generate chronograms for each solution species, shown here in the form of a reactant diminishing with first order kinetics, accompanied by the formation of a product ion. Read the full text of their Review at 10.1002/cmtd.202100068.
Synthesis and Characterization of a Carbon‐Supported Cobalt Nitride Nano‐Catalyst
Authors: Rubab Anosha , Baig Nadeem , Sher Muhammad , Ali Mubarak , Ul‐Hamid Anwar , Jabeen Naila , Khan Latif U. , Sohail Manzar 
Published: January 2022

AbstractTransition metal nitrides have attracted great interest among the non‐noble catalysts employed in heterogeneous catalytic processes because of their exceptional stability and catalytic potential. However, the approach for their synthesis has remained a tremendous challenge. This study presents the synthesis of Co4N/C catalyst fabricated at 400, 600, and 800 °, symbolized as Co4N/C‐400, Co4N/C‐600, Co4N/C‐800, respectively. The characterization of fabricated catalysts is carried out through various advanced analytical techniques. As prepared nano‐catalyst Co4N/C shows remarkable catalytic efficiency in terms of low activation energy (Ea=3.038×10−1 KJ mol−1), fast conversion rate (Kapp=0.2884 s−1), and 97.57% conversion efficiency. Moreover, it also exhibits excellent stability and reusability because of its metallic characteristics. The outstanding catalytic activity of the catalyst is the combined effect in which the Co4N nanoparticles acted as active sites, and the carbon support doped with nitrogen provided an expressway for the transport of electrons required for catalytic reduction. Moreover, the designed catalyst is immobilized on the cellulose membrane filter support, to demonstrate the catalytic reduction of 4‐nitrophenol to 4‐aminophenol. We envision that our work would facilitate the fabrication of cobalt nitrides‐based nano‐catalysts for a wide range of industrial applications.
An Improved Protocol for the Morita‐Baylis‐Hillman Reaction Allows Unprecedented Broad Synthetic Scope
Authors: Camilo Nilton S. , Santos Hugo , Zeoly Lucas A. , Fernandes Fábio S. , Rodrigues Manoel T. , Silva Thiago S. , Lima Samia R. , Serafim José Cláudio , de Oliveira Aline S. B. , Carpanez Arthur G. , Amarante Giovanni W. , Coelho Fernando 
Published: January 2022

AbstractThe Morita‐Baylis‐Hillman (MBH) reaction has been stablished as an important C−C bond‐forming transformation between carbonyl‐containing compounds and activated olefins. However, the slow reaction rate usually observed with electron‐rich electrophilic partners hinders a more widespread use of this reaction. In order to overcome this drawback, the effects of several Brønsted acids on the rate of DABCO‐catalyzed MBH reactions were evaluated. The protocol is operationally simple, involving neat and open‐flask conditions, and is compatible with a wide range of reagents. We suggest a general acid catalysis mechanism to be responsible for the rate increase. The synthetic versatility of the MBH adducts is exemplified with a two‐steps diastereoselective synthesis of the natural product (±)‐sitophilure. We hope this acid‐mediated protocol to have potential use as a general methodology for the MBH reaction.
Silk−Fibroin‐Supported Palladium Catalyst for Suzuki‐Miyaura and Ullmann Coupling Reactions of Aryl Chlorides
Authors: Rizzo Giorgio , Albano Gianluigi , Sibillano Teresa , Giannini Cinzia , Musio Roberta , Omenetto Fiorenzo G. , Farinola Gianluca M. 
Published: January 2022

AbstractRecently, we have reported the preparation of a silk fibroin‐supported Palladium catalyst (Pd/SF) and its use in the Suzuki‐Miyaura cross‐coupling of aryl iodides. Since its synthetic applicability and structural features are still far from being fully explored, a deeper investigation is reported here. Pd/SF is tested as a catalyst for the Suzuki‐Miyaura and Ullmann coupling reactions of aryl chlorides, in H2O/EtOH solvent mixture under atmospheric conditions. Starting from the analysis of the products of the Pd/SF promoted Ullmann reactions of poly‐haloarenes, we can hypothesize the existence of catalytic pockets where monoatomic palladium species can form stable complexes with SF. To shed light on this hypothesis, Pd/SF is characterized by Wide‐Angle X‐ray Scattering (WAXS) analysis, which supports the supposition of catalytic pockets. Finally, using a computational model developed by Molecular Mechanic Energy Minimization we have estimated the dimension of the catalytic pocket of Pd/SF (about 15 Å), in good agreement with the experimental results.
Numerical simulation of airflow in naturally ventilated attics for different attic geometries
Authors: B. M. Preetham , K. H. Jyothiprakash , A. S. Mridu Sai Charan , Gowda Ashwath 
Published: January 2022

AbstractAttic geometry and ventilation in a different attic geometry play a very important role in residential building energy performance. To evaluate the effect of ventilation ratio and vent balance on attic performance, a two‐dimensional finite volume model is employed to simulate the buoyancy‐driven turbulent ventilation and heat transfer in an attic space of different geometries like gable, gambrel, and saltbox roofs of residential buildings under winter conditions. The impact of ventilation ratio on ventilating airflow rate, heating load rate, and rate of heat gained is investigated for all three types of roof geometries. The model under consideration consists of a passive ventilation system with a ridge and soffit vent. Meshing is done by using ANSYS Workbench and numerical simulations are carried out by using ANSYS FLUENT 19 analysis software. The effect of passive ventilation on ridge‐vent attic performance is evaluated in this study. Ventilation ratios for soffit vents ranging from 1/400 to 1/25 are investigated. Convection boundary conditions are used for the attic walls to account for thermal resistances of ceilings and roofs. In addition, the performance of these vented attics is compared to the heat transfer in a sealed attic. The results show that the symmetrical airflow pattern exists in a vented attic, in contrast to the asymmetrical airflow patterns found in a sealed attic. From the study, it is evident that an increase in ventilation ratio reduces attic heating load irrespective of the increase in ventilation airflow rate. The rate of airflow increases with an increase in ventilation ratio in all three types of roof geometries that is gable, gambrel, and saltbox roofs. In the case of gable roof configuration, increasing the ventilation ratio from 1/200 to 1/100 results in an increase in ventilating mass flow of 75%, while an increase of ventilation ratio from 1/50 to 1/25 only increases the ventilating mass flow by 40%. In the case of gable roofs increasing ventilation ratio from 1/200 to 1/100 results in a 20% decrease in attic heating, whereas an increase in ventilation ratio from 1/50 to 1/25 results in a 10% decrease in attic heating.
Single cell sorting of young yeast based on label‐free fluorescence lifetime imaging microscopy
Authors: Kong Yawei , Zhao Yinping , Yu Yao , Su Wenhua , Liu Zhijia , Fei Yiyan , Ma Jiong , Mi Lan 
Published: January 2022

AbstractSaccharomyces cerevisiae is an attractive organism used in the fermentation industry and is an important model organism for virus research. The ability to sort yeast cells is important for diverse applications. Replicative aging of Saccharomyces Cerevisiae is accompanied by metabolic changes that are related to an essential coenzyme, reduced nicotinamide adenine dinucleotide (phosphate) (NAD(P)H). Here, a single cell sorting method based on fluorescence lifetime imaging microscopy (FLIM) and laser‐induced forward transfer (LIFT) was implemented for the first time. The aging level of yeast was determined based on the FLIM by NAD(P)H, which was a label‐free and noninvasive method for studying individual cells. Then, young and active yeast cells were sorted by the LIFT system at the single cell level. During the entire experiment, a sterile and humid environment was maintained to ensure the activity of cells. The high viability of sorted cells was achieved by the LIFT combining with FLIM.
Spinal malformation − A biochemical analysis using congenital kyphosis rats
Authors: Shimokawa Noriaki , Takahashi Itsuki , Iizuka Haku 
Published: January 2022

AbstractSpinal kyphosis involves the vertebrae curving excessively backward, beyond their physiological curvature. Although the normal structure of the spinal vertebrae is extremely important for maintaining posture, the normal function of the thoracic and abdominal organs, and cosmetics, our knowledge concerning the pathogenesis of this disease is lacking. Furthermore, the responsible gene has not yet been identified. In this short review, we summarize the current state of kyphosis research and introduce the molecular and cellular mechanisms associated with the pathogenesis of this disease, based on findings obtained using rats that develop kyphosis.
Early platelet elevation after complete remission as a prognostic marker of favourable outcomes in favourable‐ and intermediate‐risk acute myeloid leukaemia: A retrospective study
Authors: Wen Xiaoling , Li Ruoqi , Zhang Xialin , Zhai Jiahong , Yang Suxia , Wang Yaozi , Tan Yanhong , Xu Zhifang , Yang Linhua , Zhang Ruijuan 
Published: January 2022

AbstractObjectivesPlatelet (PLT) recovery after chemotherapy is associated with the prognosis of patients with acute myeloid leukaemia (AML). This study aimed to explore the prognostic significance of early high PLT values in patients with de novo non‐M3 AML who achieved first complete remission (CR).MethodsA total of 206 patients with de novo non‐M3 AML were analysed in this retrospective study. A receiver operating characteristic (ROC) curve was used to determine the optimal PLT cut‐off. The overall survival (OS) and relapse‐free survival (RFS) were assessed using Kaplan‐Meier and Cox regression analyses.Results312×109/L was confined as the cut‐off of the PLT count. The estimated 3‐year OS of patients with high PLT was higher than that of their counterparts (72.3% vs. 34.6%, p = 0.001). In subgroup analysis, patients with high PLT had better OS in the favourable‐ and intermediate‐risk (non‐adverse‐risk) AML (p = 0.001). The estimated 3‐year RFS for the high and low PLT groups was 75.1% and 45.7% respectively (p = 0.078). Multivariate analyses revealed that high PLT count was an independent favourable variable for OS (HR = 0.264, p < 0.001) and RFS (HR = 0.375, p = 0.011) in the non‐adverse‐risk group.ConclusionOur results showed that early high PLT count recovery at first CR in non‐adverse‐risk AML patients is a positive prognostic marker for survival outcomes.