bluuebunny/crossref_metadata_2025_split huggingface dataset:
KBG Syndrome in 16 Indian Individuals
Authors: Bajaj Shruti , Nampoothiri Sheela , Chugh Roshni , Sheth Jayesh , Sheth Frenny , Sheth Harsh , Narayan Vinu , Deshpande Ameya , Hegde Anaita , Dwivedi Aradhana , Yeshodharan Dhanya , Khosla Indu , Mittal Madhukar , Kore Mahesh , Ramprasad Vedam , C. Anbu Kayalvizhi , Girisha Katta M. 
Published: October 2024

ABSTRACTWe aimed to describe the clinical and genetic characteristics of 16 individuals with KBG syndrome (KBGS) from 13 Indian families. We retrospectively analyzed the clinical details of individuals with KBGS harboring a likely pathogenic/pathogenic variant in ANKRD11. We also analyzed their facial gestalt using Face2Gene and recorded the top three differential disorders suggested by the application. The most frequent clinical features observed in our cohort were as follows: learning and intellectual disability—14/15 (93%), skeletal abnormalities—14/15 (93%), postnatal short stature—13/15 (87%), brachydactyly—11/15 (73%), and characteristic facial appearance—13/15 (87%). We identified 12 single nucleotide variants (SNVs), including six recurrent and six novel variants, and a copy number variant in the 16q24.3 region encompassing ANKRD11 gene. The novel variants were as follows: p.(Gln1236Ter), p.(Asp884ThrfsTer93), p.(Arg1466GlyfsTer87), p.(Tyr2056Ter), p.(Leu955TrpfsTer22), and p.(Lys766ArgfsTer10). The identified SNVs in ANKRD11 clustered around exon 9. We observed a high concordance of Face2Gene in predicting KBGS.
Efficient Derivatization of a Thienobenzobisthiazole‐Based π‐Conjugated Polymer Through Late‐Stage Functionalization Towards High‐Efficiency Organic Photovoltaic Cells
Authors: Iwasaki Hiroto , Yamanaka Kodai , Sato Yuki , Mikie Tsubasa , Saito Masahiko , Ohkita Hideo , Osaka Itaru 
Published: October 2024

AbstractDerivatization is essential for optimizing organic material properties. However, because functional groups are often introduced at an early stage of the synthesis, similar intermediates have to be repeatedly synthesized to produce derivatives, which amounts to a daunting and time‐consuming task. Using thienobenzobisthiazole (TBTz) as a building unit of donor polymers for organic photovoltaics (OPVs), we demonstrate an efficient derivatization of a TBTz‐based π‐conjugated polymer by late‐stage functionalization. In the developed synthetic route, functional groups are introduced at the last step of monomer synthesis, enabling us to easily synthesize several derivatives from a common intermediate. Ester and acyl groups are introduced into the polymer instead of the alkyl group, giving rise to deep HOMO energy levels and resulting in OPV cells with high open‐circuit voltage even in the absence of halogen substituents that are typically introduced into the donor polymers. Notably, the ester‐functionalized TBTz‐based polymer shows a small nonradiative voltage loss (ΔVnr) of 0.19 V and has one of the highest charge generation efficiencies among the halogen‐free donor polymers with similar ΔVnr, improving the critical trade‐off relationship between voltage loss and charge generation. Our results provide an important guideline for the efficient development of high‐performance polymers for OPVs.
Pancreatic inflammation induced by hypothyroidism in female rabbits is associated with cholesterol accumulation and a reduced expression of CYP51A1, FXRβ, and PPARβ/δ
Authors: Rojas‐Juárez Rubicela , Rodríguez‐Castelán Julia , Cuatecontzi‐Fuentes Ismael , Mendez‐Tepepa Maribel , Cruz‐Lumbreras Rosalía , Rodríguez‐Antolín Jorge , Arroyo‐Helguera Omar Elind , Cuevas‐Romero Estela 
Published: October 2024

AbstractIn women and animal models, hypothyroidism induces hypercholesterolemia, pancreatitis, and insulitis. We investigated whether lipids are involved in the effects of hypothyroidism in the pancreas. Control (n = 6) and hypothyroid (n = 6) adult female rabbits were used. We quantified serum and pancreatic triacylglycerol and total cholesterol levels, the oxidative and antioxidant status, and the expression of low‐density lipoprotein cholesterol receptor (LDLR) in the pancreas. Inflammation of the pancreas was evaluated by infiltration of immune cells positive to CD163 and α‐farnesoid receptor (FXRα). Other lipid players involved in both inflammation and insulin secretion of the pancreas, such as lanosterol 14‐α‐demethylase (CYP51A1), β‐farnesoid receptor (FXRβ), 3β‐hydroxysteroid dehydrogenase (3β‐HSD), and peroxisome proliferator‐activated receptor β (PPARβ/δ), were quantified. Groups were compared by t‐Student or U‐Mann–Whitney tests (p ≤ 0.05). Hypothyroidism induced hypercholesterolemia and a high cholesterol accumulation in the pancreas of female rabbits, without affecting oxidative or antioxidative status nor the expression of LDLR. The pancreas of hypothyroid females showed inflammation identified by a great infiltration of immune cells, macrophages CD163+, and loss of expression of FXRα+ in immune cells. Moreover, a reduced expression of CYP51A1, FXRβ, and PPARβ/δ, but not 3β‐HSD, in the hypothyroid pancreas was found. Pancreatitis and insulitis promoted by hypothyroidism may be related to the accumulation of cholesterol, lanosterol actions, and the activation of PPARβ/δ. All inflammatory markers evaluated in this study are related to glucose regulation, suggesting the link between hypothyroidism and diabetes.
The use of lead isotopes for determining sources of lead in drinking water
Authors: Cornwell David A. , Kamenov George , McTigue Nancy E. 
Published: October 2024

AbstractA series of paired samples were analyzed to determine if high‐precision lead isotopic fingerprinting could help identify the source of lead in plumbing materials and drinking water. Samples were obtained of plumbing materials (lead service lines, copper pipe with lead solder, galvanized materials, and brass fixtures) from water utilities across the United States. Lead samples were taken from the material itself, from scales, and in some cases from associated water. The lead samples were analyzed to determine the ratios of the four stable lead isotopes present. The results enabled the identification of relationships between various components and further aided in the identification of the source of lead found in water and in pipe scales. Isotopic fingerprinting, as demonstrated in this study, could be used to determine if a galvanized line is a galvanized line requiring replacement (GRR) under the Lead and Copper Rule Improvements (USEPA, 2023).
Solid‐State NMR of Heterogeneous Catalysts
Authors: Haro Mares Nadia , Logrado Millena , Kergassner Jan , Zhang Bingyu , Gutmann Torsten , Buntkowsky Gerd 
Published: October 2024

AbstractRecent advances in solid‐state nuclear magnetic resonance (NMR) spectroscopy, combined with dynamic nuclear polarization (DNP), quantum chemical DFT calculations, and gas‐phase NMR spectroscopy investigating the structure and reactivity of heterogeneous catalysts are reviewed. The investigated catalysts range from classical mononuclear catalysts, like immobilized derivates of Wilkinson's catalysts over binuclear catalysts such as the dirhodium paddlewheel catalyst to catalytic nanoparticles, employing various support materials, such as mesoporous silica gels, coordination polymers, and biomaterials such as cellulose.
Biomechanical significance of intervertebral discs on growthplate stresses in scoliotic trunks following unilateral muscle weakening: A hybrid approach of finite element and musculoskeletal modeling
Authors: Kamal Zeinab 
Published: October 2024

AbstractThis study aimed to ascertain the relevance of intervertebral discs (IVD) in the stress distribution on growthplates (GPs) of a trunk model with adolescent idiopathic scoliosis (AIS) following a unilateral weakening of muscles. A thoracolumbar spine finite element (FE) model of a young female healthy and an AIS spine comprising GPs linked to the T12 through sacrum vertebrae. Two scenarios of including (FEI) and excluding (FEE) IVDs were considered. Then, using optimization‐driven musculoskeletal models of the AIS and healthy trunks, the FE models were examined under subject‐specific muscle forces and gravity loads. Results of this study demonstrate that when IVDs included in the FE model, an increase, ranging from 0.2 to 1.7 MPa, with the highest value occurring at the apex of the AIS model, in the von Mises stresses in the GPs. The ratio of 1.5 was found for the maximum von‐Mises stress value on the most tilted GP in the FEI over the FEE model. Unilateral paralysis of muscles caused a reduction of 50% and 63% in the von Mises stress ratio of the concave‐over‐convex side of the most tilted GP in the FEI and FEE models of the AIS spine with healthy muscles, respectively. The intradiscal pressures, found for FEE and FEI models, assented to recent in‐vivo investigations. Nonetheless, employing IVDs in the simulations provides an indispensable tool to anticipate the effects of neuromuscular disorders on GP stresses in an AIS spine and predict deformity progression during growth.
CeVO4/KB Nanoparticles on Shuttle Effect Inhibition in Lithium‐Sulfur Battery Separator Modification
Authors: Zhu Zhijun , Yu Zhihong , Chen Guihuan , Li Boyan , Li Aiju 
Published: October 2024

AbstractLithium‐sulfur (Li−S) batteries display promise as redox‐based batteries, where separators are an essential part of preventing short‐circuiting of the positive and negative electrodes, while the shuttle effect is a critical issue of separators. Currently, commercial PP separators are weak in inhibiting the polysulfides shuttling, so modified separators are needed to inhibit it to improve the battery performance. This paper reports that CeVO4/KB composites act as separator materials. CeVO4/KB modified PP separators enhanced the adsorption of LiPSs, accelerated the rate of Li+ migration, and catalyzed the conversion of LiPSs. These bring about the effect that CeVO4/KB/PP batteries reach 1200.9 mAh g−1 in the first cycle with a capacity retention rate of 86.5 % after 100 cycles at 0.2 C and reach 882.7 mAh g−1 of the initial cycle with a capacity decay rate of 0.063 % after 1000 cycles at 3 C. This work introduces rare earth metal vanadates to modify the separator, adding new ideas for designing separators for good‐performance batteries.
Self‐Etching Synthesis of Superhydrophilic Iron‐Rich Defect Heterostructure‐Integrated Catalyst with Fast Oxygen Evolution Kinetics for Large‐Current Water Splitting
Authors: Tang Tingting , Teng Yanfang , Sun Kuoteng , Wei Fengli , Shi Luyan , Chen Yongle , Muhammad Sheraz , Isimjan Tayirjan Taylor , Tian Jianniao , Yang Xiulin 
Published: October 2024

AbstractDeveloping catalysts with rich metal defects, strong hydrophilicity, and extensive grain boundaries is crucial for enhancing the kinetics of electrocatalytic water oxidation and facilitating large‐current water splitting. In this study, we utilized pH‐controlled etching and gas‐phase phosphating to synthesize a flower‐like Ni2P‐FeP4‐Cu3P modified nickel foam heterostructure catalyst. This catalyst features pronounced hydrophilicity and a high concentration of Fe defects. It exhibits low overpotentials of 156 mV and 210 mV at current densities of 10 and 100 mA cm−2 respectively, and maintains stability for up to 200 h at 100 mA cm−2 with only 7.3 % degradation, showcasing outstanding electrocatalytic water oxidation performance. Furthermore, when integrated into a Ni2P‐FeP4‐Cu3P/NF||Pt−C/NF electrolyzer, it achieves excellent overall water splitting performance, reaching current densities of 10 and 400 mA cm−2 at just 1.47 V and 1.73 V, respectively, and operates stably for 60 h at 500 mA cm−2 with minimal degradation. Analysis indicates that high‐valence oxyhydroxides/phosphides of Ni, Fe, and Cu act as the primary active species. The presence of abundant Fe defects enhances electron transfer, strong hydrophilicity improves electrolyte contact, and numerous grain boundaries synergistically modulate the activation energy between active sites and oxygen‐containing intermediates, significantly improving the kinetics of water oxidation.
Independent effects of tree diversity on aboveground and soil carbon pools after six years of experimental afforestation
Authors: Bryant Reb L. , Kothari Shan , Cavender‐Bares Jeannine , Curran Stephanie J. , Grossman Jake J. , Hobbie Sarah E. , Nash Charlotte , Neumiller Grace C. , See Craig R. 
Published: October 2024

AbstractPlanting diverse forests has been proposed as a means to increase long‐term carbon (C) sequestration while providing many co‐benefits. Positive tree diversity–productivity relationships are well established, suggesting more diverse forests will lead to greater aboveground C sequestration. However, the effects of tree diversity on belowground C storage have the potential to either complement or offset aboveground gains, especially during early stages of afforestation when potential exists for large losses in soil C due to soil decomposition. Thus, experimental tests of the effects of planted tree biodiversity on changes in whole‐ecosystem C balance are needed. Here, we present changes in above‐ and belowground C pools 6 years after the initiation of the Forests and Biodiversity experiment (FAB1), consisting of high‐density plots of one, two, five, or 12 tree species planted in a common garden. The trees included a diverse range of native species, including both needle‐leaf conifer and broadleaf angiosperm species, and both ectomycorrhizal and arbuscular mycorrhizal species. We quantified the effects of species richness, phylogenetic diversity, and functional diversity on aboveground woody C, as well as on mineral soil C accumulation, fine root C, and soil aggregation. Surprisingly, changes in aboveground woody C pools were uncorrelated to changes in mineral soil C pools, suggesting that variation in soil C accumulation was not driven by the quantity of plant litter inputs. Aboveground woody C accumulation was strongly driven by species and functional identity; however, plots with higher species richness and functional diversity accumulated more C in aboveground wood than expected based on monocultures. We also found weak but significant effects of tree species richness, identity, and mycorrhizal type on soil C accumulation. To assess the role of the microbial community in mediating these effects, we further compared changes in soil C pools to phospholipid fatty acid (PLFA) profiles. Soil C pools and accumulation were more strongly correlated with specific microbial clades than with total microbial biomass or plant diversity. Our results highlight rapidly emerging and microbially mediated effects of tree biodiversity on soil C storage in the early years of afforestation that are independent of gains in aboveground woody biomass.
Contemporary reflections on William Gull's case studies of anorexia nervosa, 150 years on
Authors: Mayall Mark , Sadhu Raja , McDermott Brett 
Published: October 2024

AbstractObjectiveTo analyse and compare the original four published anorexia nervosa (AN) case histories of William Gull with modern‐day approaches.MethodCase histories of the patients described by Gull were reviewed and placed in a tabulated format (which included demographics, clinical presentation, treatment, and prognosis) along with his general comments on AN, for easier comparison.ResultsMany of the presenting features of AN are similar to cases seen in more modern times but lack weight or body image disturbances. The cases described by Gull can be categorised as AN under the Diagnostic and Statistical Manual‐Fifth Edition (DSM‐5) and the Text Revision (DSM‐5‐TR) however, they were excluded by the Diagnostic and Statistical Manual‐Fourth Edition (DSM‐IV) and the International Classification of Diseases‐10th Revision (ICD‐10) criteria. Reference to Gull's work might have avoided the necessary change in diagnostic criteria.Conclusions150 years on, Gull's cases resemble presentations of AN without weight or body image issues and emphasise the heterogeneity of the diagnostic conceptualisation of AN in the modern era. Nutritional rehabilitation remains core to the treatment with other interventions supporting this goal while aetiology remains elusive.
A New Pattern of Phytomelanin Deposition in Cypselae of Bahieae (Asteraceae, Heliantheae Alliance)
Authors: Mathur Roshni R. , Pandey Arun K. 
Published: October 2024

ABSTRACTPhytomelanin is the dark and highly inert substance found in the fruit walls of the Heliantheae alliance clade within Asteroideae (Asteraceae). Phytomelanin deposition pattern in the cypselar wall was studied in two taxa of the Bahieae—Bahia pedata A. Gray and Palafoxia arida B. L. Turner. The pericarp anatomy studies have revealed that the phytomelanin deposits in the schizogenous space between the hypodermis and fiber layer. Our findings reveal that phytomelanin deposition is associated with fiber and has also brought out a new pattern of phytomelanin deposition between inner (fibrous zone) and outer sclerified layers (hypodermal) in the schizogenous space. The study recorded a first‐time report of a second layer of phytomelanin outer to the sclerified hypodermal cells at maturity. Our observations point to phytomelanin precursors being synthesized as pliable fluid substances associated with fiber cells and solidifies later in the intercellular space. The study also recorded the first report for the occurrence of tracheoidal cells in the pericarp wall of the Bahieae within the Heliantheae alliance. Our study has provided insights to decipher evolutionary patterns and the significance of phytomelanin in the phytomelanic fruit clade (PFC), and it could help to resolve long‐standing debates on deposition patterns and the site of synthesis of phytomelanin.
Awareness on obstetric fistula and associated factors among women health development army, in the South Gondar zone, Amhara region, Ethiopia: A cross sectional study
Authors: Addimasu Bilikew , Nigatu Dabere , Yadita Zemenu S. , Melkie Mekonnen 
Published: October 2024

AbstractBackground and AimsObstetric fistula is a severe birth injury that profoundly impacts women's health, social well‐being, economic stability, and psychological state. While it can be prevented with timely emergency obstetric care, a significant barrier in many developing regions, including the study area, is the lack of awareness among women. This study aimed to evaluate the level of awareness about obstetric fistula and the factors influencing it among the Women Health Development Army in the South Gondar zone of the Amhara region, Ethiopia, in 2020.MethodsA community‐based cross‐sectional study was done from July to December 2020, involving 633 women. Participants were selected using a multistage stratified sampling method. Data were collected using a pretested, interviewer‐administered structured questionnaire. Data entry was performed using EpiData version 3.1, and analysis was conducted with SPSS version 23.0. Multivariable logistic regression models were employed to identify influencing factors, with a p < 0.05 considered statistically significant.ResultsThis study found that 55.3% (95% CI, 51.6%–57.2%) of study participants had a good awareness of obstetrics fistula. Significantly associated factors include; no history of ANC (AOR = 0.52: 95% CI, 0.31, 0.86), living >30 min away from a health facility (AOR = 0.43: 95% CI, 0.23, 0.81), no history of abortion (AOR = 0.37: 95% CI, 0.19, 0.72), Injectable and implant users (AOR = 3.60: 95% CI, 1.98, 6.53), having four to six pregnancy (AOR = 1.87: 95% CI, 1.22, 2.87) and lack of communication material in the house (AOR = 0.19: 95% CI, 0.10, 0.37).ConclusionsThis study found that 55.3% of women have a good awareness of obstetrics fistula. ANC follow‐up history, abortion history, type of family planning, type of communication, number of pregnancies, availability of health facility, and distance of health facility were significantly associated with awareness of obstetric fistula. Hence, local and national efforts should be made to enhance access to information at home and basic maternal health services including antenatal care.
Robot‐assisted radical cystectomy using real‐time transrectal ultrasound guidance in a patient who had radical prostatectomy and salvage external beam radiation therapy
Authors: Inoue Yuta , Yamada Takeshi , Okusa Yuji , Taga Hideto , Ueda Takashi , Shiraishi Takumi , Fujihara Atsuko , Okumi Masayoshi , Hongo Fumiya , Ukimura Osamu 
Published: October 2024

IntroductionRadical cystectomy for patients who previously underwent both radical prostatectomy and prostatic bed radiation is technically challenging.Case presentationA 78‐year‐old man with a history of radical prostatectomy and salvage radiation for prostate cancer was referred to our hospital for radical treatment of bladder cancer. After two cycles of neoadjuvant chemotherapy, he underwent robot‐assisted radical cystectomy with real‐time transrectal ultrasound guidance during dissection of the rectovesical space to minimize the risk of rectal injury. There were no perioperative adverse events.ConclusionIntraoperative real‐time transrectal ultrasound guidance could assist surgeons to safely perform the dissection of the rectovesical space in the surgically high‐risk patient.
Pharmacological activity, phytochemistry, and organ protection of lithospermic acid
Authors: Yang Wenwen , Li Jiayan , Tian Jiayin , Liu Xiaoyi , Xie Wentao , Wu Xue , Zhang Zhe , Song Yuefei , Wang Shuya , Zhao Shiyan , Wang Zheng , Yang Yang , Jin Zhenxiao 
Published: October 2024

AbstractLithospermic acid (LA) is a water‐soluble phenolic acid compound extracted and separated from the dried root and the rhizome of Salviamiltiorrhiza Bge (Labiatae), possessing multiple biological activities. Firstly, in terms of pharmacological activities, LA has been proven to possess anti‐inflammatory, antioxidant, autophagy activation, and antiapoptotic properties. Secondly, the pharmacokinetic characteristics of LA show rapid and extensive distribution in various tissues after intravenous administration, followed by rapid elimination and excretion. Additionally, potential therapeutic effects of LA have been found in various diseases such as thrombosis, Parkinson's disease, hepatitis B, diabetes, and psoriasis, among others. Particularly, LA has shown promising prospects in the treatment of clinical heart diseases and has been included in new drug formulations for the treatment of chronic angina, demonstrating superior efficacy compared to current cardiovascular drugs. In conclusion, this review comprehensively introduces the pharmacological mechanisms, pharmacokinetics, and protective effects in diseases of LA. These information can lay a theoretical foundation for the future development and new clinical applications of LA.