bluuebunny/crossref_metadata_2025_split huggingface dataset:
Novel TMPRSS6 variants and their impact on iron‐refractory iron deficiency anaemia in pregnancy: A North Indian genotype phenotype study
Authors: Sharma Antika , Kumar Anil , Rawat Kajal , Vij Soumya , Sandhu Arushi , Gautam Vipasha , Saha Pradip Kumar , Saha Lekha 
Published: July 2024

SummaryIron‐refractory iron deficiency anaemia (IRIDA) is a rare autosomal recessive disorder, distinguished by hypochromic microcytic anaemia, low transferrin levels and inappropriately elevated hepcidin (HEPC) levels. It is caused by mutations in TMPRSS6 gene. Systematic screening of 500 pregnant women with iron deficiency anaemia having moderate to severe microcytosis with no other causes of anaemia were enrolled to rule out oral iron refractoriness. It identified a final cohort of 10 (2.15% prevalence) individuals with IRIDA phenotype. Haematological and biochemical analysis revealed significant differences between iron responders and iron non‐responders, with iron non‐responders showing lower haemoglobin, red blood cell count, serum iron and serum ferritin levels, along with elevated HEPC (9.47 ± 2.75 ng/mL, p = 0.0009) and erythropoietin (4.58 ± 4.07 µ/mL, p = 0.0196) levels. Genetic sequencing of the TMPRSS6 gene in this final cohort identified 10 novel variants, including seven missense and three frame‐shift mutations, with four missense variants showing high functional impact defining the IRIDA phenotype. Structural analysis revealed significant damage caused by two variants (p.L83R and p.S235R). This study provides valuable insights into IRIDA among pregnant women in the Indian subcontinent, unveiling its underlying causes of unresponsiveness, genetic mechanisms and prevalence. Furthermore, research collaboration is essential to validate these findings and develop effective treatments.
New insights into the structural and stratigraphic evolution of the Malay Basin using 3D seismic data: Implications for regional carbon capture and storage potential
Authors: de Jonge‐Anderson Iain , Widyanita Ana , Busch Andreas , Doster Florian , Nicholson Uisdean 
Published: July 2024

AbstractThe Malay Basin is a mature hydrocarbon province currently being re‐assessed for CO2 storage. Selecting an appropriate storage site requires a comprehensive understanding of the structural and stratigraphic history of the basin. However, previous studies have been limited to observations from either regional 2D seismic lines or individual 3D seismic volumes. In this study, we access and utilise a basin‐wide (ca. 36,000 km2) 3D seismic and well database to describe the structural and stratigraphic features of the basin, particularly those within the uppermost ca. 4 km (Oligocene to Recent) and gain new insights into the basin's evolution. E–W transtensional rift basins first developed due to sinistral shear across an NW‐SE strike‐slip zone. The NW‐SE basin morphology seen today was generated during the late Oligocene–early Miocene, during which time dextral motion across marginal hinge zones created en‐echelon antithetic, extensional faults and pull‐apart basins, especially well preserved along the western margin of the basin. Collisional forces to the southeast during the early to middle Miocene resulted in the shallowing of the basin, intermittent connection to the South China Sea and a cyclic depositional pattern. Around 8 Ma (late Miocene), a significant uplift of the basin resulted in a major unconformity with up to 4.2 km of erosion and exhumation in the southeast. In the centre and northwest of the basin, the inversion of deeper E–W rifts resulted in the folding of Miocene sequences and the formation of large anticlines parallel to the rift‐bounding faults. The Pliocene to Pleistocene history is more tectonically quiescent, but some extensional faulting continued to affect the northwest part of the basin. Larger glacio‐eustatic sea‐level fluctuations during this time resulted in major changes in sedimentation and erosion on the Sunda Shelf, including the formation of a middle‐Pliocene unconformity. These structural events have created a variety of hydrocarbon traps across the basin of different ages, including transpressional anticlines, rollover anticlines and tilted fault blocks. Each of these has discrete and distinct trap elements with important implications for their CO2 storage potential.
A systematic review of invasive non‐native freshwater bivalves
Authors: Prestes Juliani Giselli , Carneiro Laís , Miiller Natali Oliva Roman , Neundorf Ananda Karla Alves , Pedroso Clemerson Richard , Braga Raul Rennó , Sousa Ronaldo , Vitule Jean Ricardo Simões 
Published: July 2024

ABSTRACTThe introduction of invasive species has become an increasing environmental problem in freshwater ecosystems due to the high economic and ecological impacts it has generated. This systematic review covers publications from 2010 to 2020, focusing on non‐native invasive freshwater bivalves, a particularly relevant and widespread introduced taxonomic group in fresh waters. We collected information on the most studied species, the main objectives of the studies, their geographical location, study duration, and type of research. Furthermore, we focused on assessing the levels of ecological evidence presented, the type of interactions of non‐native bivalves with other organisms and the classification of their impacts. A total of 397 publications were retrieved. The studies addressed a total of 17 species of non‐native freshwater bivalves; however, most publications focused on the species Corbicula fluminea and Dreissena polymorpha, which are recognised for their widespread distribution and extensive negative impacts. Many other non‐native invasive bivalve species have been poorly studied. A high geographical bias was also present, with a considerable lack of studies in developing countries. The most frequent studies had shorter temporal periods, smaller spatial extents, and more observational data, were field‐based, and usually evaluated possible ecological impacts at the individual and population levels. There were 94 publications documenting discernible impacts according to the Environmental Impact Classification for Alien Taxa (EICAT). However, 41 of these publications did not provide sufficient data to determine an impact. The most common effects of invasive bivalves on ecosystems were structural alterations, and chemical and physical changes, which are anticipated due to their role as ecosystem engineers. Despite a considerable number of studies in the field and advances in our understanding of some species over the past decade, long‐term data and large‐scale studies are still needed to understand better the impacts, particularly at the community and ecosystem levels and in less‐studied geographic regions. The widespread distribution of several non‐native freshwater bivalves, their ongoing introductions, and high ecological and economic impacts demand continued research. Systematic reviews such as this are essential for identifying knowledge gaps and guiding future research to enable a more complete understanding of the ecological implications of invasive bivalves, and the development of effective management strategies.
Intensity of subarachnoid space inflammation corresponds to the evolution of vessel wall remodeling during the acute and chronic phases of bacterial meningitis
Authors: Kumar Vivig Shantha , Kumar Vignarth Shantha , Kumar Ruthvik Thaghalli Sunil 
Published: July 2024

AbstractCerebrovascular alterations in acute bacterial meningitis significantly contribute to adverse patient outcomes, with reported complication rates ranging from 10% to 29%. Focal alterations in arterial lumens, leading to vasoconstriction, are common in cerebral ischemic and inflammatory conditions, such as bacterial meningitis, presenting neurological complications, such as seizures, brain swelling, hydrocephalus, hearing loss and ischemic or hemorrhagic brain damage. The observed arterial narrowing during meningitis is attributed to diverse factors, including direct encroachment by inflammatory exudate, vascular wall edema, vasospasm, and vasculitis due to cellular infiltration and vessel remodeling. Early‐stage constriction might result from a watery exudate's encroachment, whereas persistent inflammation leads to thicker exudates, attracting inflammatory cells and inducing arteriopathic growth factor synthesis. This process promotes structural modifications in the vessel wall, progressing from subintimal infiltration to organic intimal thickening, culminating in vasculitis and the risk of cerebral ischemia. Accordingly, this review seeks to more clearly delineate the intricate relationship between subarachnoid space inflammation and acute and chronic vessel wall remodeling during bacterial meningitis. Conceivably, understanding this pathological process holds promise in unveiling potential treatment avenues to improve patient outcomes, and reduced morbidity and mortality associated with cerebrovascular complications during bacterial meningitis.
Causal relationship and shared genes between air pollutants and amyotrophic lateral sclerosis: A large‐scale genetic analysis
Authors: Li Zhihao , Wen Jie , Wu Wantao , Dai Ziyu , Liang Xisong , Zhang Nan , Cheng Quan , Zhang Hao 
Published: July 2024

AbstractObjectiveAir pollutants have been reported to have a potential relationship with amyotrophic lateral sclerosis (ALS). The causality and underlying mechanism remained unknown despite several existing observational studies. We aimed to investigate the potential causality between air pollutants (PM2.5, NOX, and NO2) and the risk of ALS and elucidate the underlying mechanisms associated with this relationship.MethodsThe data utilized in our study were obtained from publicly available genome‐wide association study data sets, in which single nucleotide polymorphisms (SNPs) were employed as the instrumental variantswith three principles. Two‐sample Mendelian randomization and transcriptome‐wide association (TWAS) analyses were conducted to evaluate the effects of air pollutants on ALS and identify genes associated with both pollutants and ALS, followed by regulatory network prediction.ResultsWe observed that exposure to a high level of PM2.5 (OR: 2.40 [95% CI: 1.26–4.57], p = 7.46E‐3) and NOx (OR: 2.35 [95% CI: 1.32–4.17], p = 3.65E‐3) genetically increased the incidence of ALS in MR analysis, while the effects of NO2 showed a similar trend but without sufficient significance. In the TWAS analysis, TMEM175 and USP35 turned out to be the genes shared between PM2.5 and ALS in the same direction.ConclusionHigher exposure to PM2.5 and NOX might causally increase the risk of ALS. Avoiding exposure to air pollutants and air cleaning might be necessary for ALS prevention.
The health effects of non‐prescribed anabolic–androgenic steroid use: Findings from The Performance and image‐enhancing drugs UseRS' Health (PUSH) audit
Authors: Dunn Matthew , Dawe Joshua , Eu Beng , Lee Kevin , Piatkowski Timothy , Stoové Mark 
Published: July 2024

AbstractIntroductionTo ascertain the adverse health outcomes experienced by those using prescribed testosterone and non‐prescribed anabolic–androgenic steroids presenting to general practitioner (GP) clinics.MethodsRetrospective clinical audit from nine GP clinics in major metropolitan areas across three Australian states. Data included demographic and individual characteristics (age, sexuality, body mass index, smoking status and HIV status); performance and image‐enhancing drug use (type, reasons for use, patient‐reported adverse effects); and blood biochemistry measurements (lipid profiles, liver function tests and red blood cell tests). Adverse health outcomes included evidence of polycythaemia, hypertension, liver abnormalities and hypercholesterolemia.ResultsThree hundred men were identified as either using prescribed testosterone (66%; n = 197) or non‐prescribed anabolic–androgenic steroids (AAS) (34%; n = 103). Individuals in the prescribed group were more likely to be older (p < 0.001), gay or bisexual (p < 0.001) and living with diagnosed HIV (p < 0.001) compared to individuals in the non‐prescribed group. Abnormal liver function, polycythemia and gynecomastia were the top three adverse events experienced. When adjusting for age, sexuality, HIV status and smoking status, those who used non‐prescribed AAS were more likely to experience any adverse event (aPR = 1.28; 95% CI 1.01–1.60; p = 0.038), hypertension (aPR = 1.86; 95% CI 1.19–2.91; p = 0.006) and liver abnormalities (aPR = 1.51; 95% CI 1.04–2.20; p = 0.030) compared to those using prescribed testosterone.Discussion and ConclusionFor GPs who have clients who may be using, or who they suspect of using, AAS, these findings highlight the importance of not only exploring a patient's history of the adverse effects they have experienced, but that measuring for these other conditions may provide a more accurate clinical picture.
Valoctocogene roxaparvovec gene therapy provides durable haemostatic control for up to 7 years for haemophilia A
Authors: Symington Emily , Rangarajan Savita , Lester Will , Madan Bella , Pierce Glenn F. , Raheja Priyanka , Millar Carolyn , Osmond Dane , Li Mingjin , Robinson Tara M. 
Published: July 2024

AbstractIntroductionValoctocogene roxaparvovec is an adeno‐associated virus vector serotype 5 (AAV5)‐mediated gene therapy approved for severe haemophilia A (HA).AimTo report the safety and efficacy of valoctocogene roxaparvovec 7 years after dosing in a phase 1/2 clinical study (NCT02576795).MethodsMales ≥18 years with severe HA (factor VIII [FVIII] ≤1 international unit [IU]/dL) who were previously receiving exogenous FVIII and had no history of FVIII inhibitors or anti‐AAV5 antibodies received valoctocogene roxaparvovec treatment and were followed for 7 (6 × 1013 vg/kg; n = 7) and 6 (4 × 1013 vg/kg; n = 6) years.ResultsIn the last year, one participant in each cohort reported treatment‐related adverse events (AEs): grade 1 (G1) hepatomegaly (6 × 1013), and G1 splenomegaly and G1 hepatic steatosis (4 × 1013). During all follow‐up, mean annualized treated bleeds and exogenous FVIII infusion rates were ≥88% lower than baseline values. At years 7 and 6, mean (median) FVIII activity (chromogenic assay) was 16.2 (10.3) and 6.7 (7.2) IU/dL in the 6 × 1013 (n = 5) and 4 × 1013 (n = 4) cohorts, respectively, corresponding to mild haemophilia. Regression analyses of the last year estimated rate of change in FVIII activity was ‐0.001 and ‐0.07 IU/dL/week for the 6 × 1013 and 4 × 1013 cohorts, respectively. Two participants (6 × 1013) resumed prophylaxis in year 7: one after a non‐treatment‐related G4 serious AE of spontaneous internal carotid artery bleed, and the other to manage bleeds and FVIII activity.ConclusionsThe safety and efficacy of valoctocogene roxaparvovec remain generally consistent with previous reports, with good haemostatic control for most participants. Two participants returned to prophylaxis.
Out of the Ordinary: An Evaluation of Geach's Argument for Immaterialism
Authors: Dillard Peter S. 
Published: July 2024

AbstractPeter Geach offers a novel argument for the immaterialist conclusion that thinking is not a physical activity performed. Two crucial premises of Geach's argument are that thinking is a basic activity and that thinking is a non‐clockable activity. It is argued that since Geach does not clarify in exactly what sense thinking is supposed to be a basic activity, the first premise of his argument has not been justified. It is then argued that the same Wittgensteinian considerations Geach takes to show that there are no interior acts of meaning also show that there are no interior acts of thinking and hence no non‐clockable interior acts of thinking. Thus the second premise of Geach's argument also has not been justified. Therefore, Geach's argument is unconvincing as it stands.
The effect of different roasting techniques on bioactive compounds, fatty acids and element profiles of mahaleb seeds used as vanilla substitute in bakery products
Authors: Younis Mahmoud , Ahmed Isam Ali Mohamed , Uslu Nurhan , Albakry Zainab , Özcan Mehmet Musa 
Published: July 2024

SummaryIn this study, the effects of different roasting techniques on the oil content, bioactive compounds, antioxidant activity, phenolic components, fatty acid and mineral contents of mahaleb seeds, which can be used instead of vanilla, were investigated spectrophotometric and chromatographic systems. The oil quantities of the mahaleb seeds were assessed to be between 30.34% (control) to 34.08% (conventional oven). The total phenolic and flavonoid quantities were assigned to be between 34.37 (control) and 46.61 mg gallic acid equivalent (GAE/)/100 g (microwave) to 82.62 (conventional oven) and 94.21 mg quercetin equivalent (QE)/100 g (microwave), respectively. Antioxidant capacity values of untreated and roasted mahaleb seeds were assessed to be between 1.89 (control) and 2.03 mmol Trolox equivalent (TE) kg−1 (conventional oven). L* values of mahaleb seeds were established to be between 53.04 and 83.40, and a decrease was observed in L* values after heat treatment. Caffeic acid and rutin values of the mahaleb seeds were established between 344.84 (oven) and 641.86 (control) to 18.53 (control) and 146.52 mg/100 g (oven), respectively. The dominant fatty acids of the mahaleb oils were oleic, linoleic and palmitic acids. Phosphorus (P) and potassium (K) quantities of the mahaleb seeds were established to be between 4988.11 (control) and 5280.93 mg kg−1 (oven) to 8025.94 (oven) and 8462.66 mg kg−1 (microwave), respectively. The roasting process had an effect on the bioactive components, fatty acids and element contents of mahaleb seeds.
Probing into the mechanism of adding tussah pupa powder to improve the deterioration of a pork batter emulsified gel
Authors: Zheng Jinyue , Ding Yvxin , Han Dan , Liang Caichun , Shao Jun‐Hua 
Published: July 2024

SummaryThe purpose of this experiment was to explore the improvement of tussah pupa powder on the deterioration of pork batter emulsion gel by using proteomics, distribution of moisture, rheological properties and surface hydrophobicity. The results showed that the myosin decomposed as the heating temperature increased; as the increase of the addition proportion of tussah pupa powder at each sterilisation temperature point, compared to the control group, the pH of a pork batter emulsified gel showed a significant increased trend (P < 0.05); the low molecular weight proteins or formed oligomers of tussah pupa powder could be used as fillers to participate in the formation process of gel network; the vitellogenin of tussah pupa powder could form a ‘skeleton’ in the pork batter system; as the sterilisation temperature at 100 °C (30 min) and 110 °C (30 min), the surface hydrophobicity was the largest as the addition amount 2%. In short, the tussah pupae powder could improve the deterioration characteristics of the pork batter emulsified gel by influencing the pH, surface hydrophobicity and the formation of gel network of pork batter system. This research provided theoretical support for improving the process property of the meat products.
Effects of l‐arginine/l‐lysine on physicochemical properties of sodium‐reduced Cantonese sausage without exogenous phosphate addition
Authors: Li Axiang , Liang Huihui , Gao Xun , Fan Xiaokang , Fang Hongmei , Zhou Cunliu 
Published: July 2024

SummaryThe study inquired the influences of l‐arginine and l‐lysine on the physicochemical properties (including weight loss rate, water activity, texture, colour, lipid and protein oxidation, residual nitrite content and total volatile basic nitrogen (TVB‐N) content) of low‐sodium and low‐phosphate Cantonese sausage during the 1‐ and 7‐day storage. The results showed that the addition of l‐arginine or l‐lysine reduced the weight loss rate, TBARS content, carbonyl group content and residual nitrite level, slightly decreased water activity, and enhanced L*, a* and b* values. Compared to the control, 0.3% l‐arginine or l‐lysine declined hardness and chewiness, while 0.6% l‐arginine or l‐lysine elevated these two parameters. However, the addition of l‐arginine or l‐lysine also led to an increase in TVB‐N content. Overall, l‐arginine and l‐lysine improved the qualities of low‐sodium and low‐phosphate Cantonese sausage, which might be attractive to meat product manufacturers.
Chemical composition, thermal profile and functional properties of grasshopper (Sphenarium purpurascens Ch.), cockroach (Nauphoeta cinerea) flours and their mixtures
Authors: Juárez‐Barrientos José Manuel , Rodríguez‐Miranda Jesús , Peña‐Marín Emyr Saúl , Chareo‐Benítez Berenice , Alcántar‐Vázquez Juan Pablo , Ramírez‐Rivera Emmanuel de Jesús , Aparicio‐Saguilán Alejandro , da Cruz Adriano Gomes 
Published: July 2024

SummaryThe use of insects as food is a hot topic today and the obtaining and comprehensive characterisation of insect meals is relevant since any scientific information represents progress towards the real use of these ‘new foods’. Therefore, the objective of this study was to evaluate the chemical composition of flours obtained from Sphenarium purpurascens Ch. and Nauphoeta cinerea, identify the main components and know their functional properties and thermal profile in flours and their mixtures to establish their potential applications as ingredients in the food and feed industry. The results revealed that flours and their mixtures can be used to increase the nutritional value of foods, especially thanks to their high protein content (35%–38%); in addition, their potential uses are numerous and range from baking, snacks, drinks and meat substitutes thanks to their techno‐functional and thermal properties. Regarding the thermal profile, this study presents results above 250 °C that have not been reported before for these insects and relate to the decomposition of acetylglucosamine units and the evaporation of low molecular weight volatile products that have not been reported for the flours of these insects. This study represents an advance in terms of the use of insects, pending attention to issues such as innocuity.
A new empirical framework to measure beliefs about the future well‐being of all humanity
Authors: Lou Xiaobin , Haas Brian W. 
Published: July 2024

AbstractMany important decisions that people are faced with hold consequences for future generations of humans on Earth. However, it is currently not well understood how people think about the future of all humans on Earth. This study was designed to explore the way people think about the past and future of all of humanity. We investigate people's beliefs about the past and future of all humanity (1000 years) as compared to people's beliefs about the remembered past and predicted future of their own lives (10 years). We found that the trajectory of quality of life is dissociable according to humanity vs individual levels, and that beliefs about the past and future of all humanity are linked to several personality and dispositional traits (neuroticism, conscientiousness, optimism and time orientation) and values/attitudes (current life satisfaction, science and technology and system justification). These findings provide a useful framework to further investigate how people think about the future of all humanity and shed new light on potential correlates to the way the future of humanity is imagined.