bluuebunny/crossref_metadata_2025_split huggingface dataset:
Preconception carrier screening and preimplantation genetic testing in the infertility management
Authors: Caroselli Silvia , Poli Maurizio , Gatta Valentina , Stuppia Liborio , Capalbo Antonio 
Published: August 2024

AbstractBackgroundGenetic testing serves as a valuable element of reproductive care, applicable at various stages of the reproductive journey: (i) before pregnancy, when a couple's genetic reproductive risk can be evaluated; (ii) before embryo implantation, as part of in vitro fertilization (IVF) treatment, to ascertain several inherited or de novo genetic/chromosomal diseases of the embryo before transfer; (iii) during the prenatal period, to assess the genetic costitution of the fetus. Preconception carrier screening (CS) is a genetic test typically performed on couples planning a pregnancy. The primary purpose of CS is to identify couples at‐risk of conceiving a child affected by a severe genetic disorder with autosomal recessive or X‐linked inheritance. Detection of high reproductive risk through CS allows prospective parents to be informed of their predisposition and improve reproductive decision‐making. These include undergoing IVF with preimplantation genetic testing (PGT) or donor gametes, prenatal diagnosis, adoption, remaining childless, taking no actions. Both the presence of the affected gene (PGT‐M) and chromosomal status (PGT‐A) of the embryo can be comprehensively assessed through modern approaches.ObjectivesWe provide a review of CS and PGT applications to equip healthcare providers with up‐to‐date information regarding their opportunities and complexities.Results and DiscussionThe use of CS and PGT is currently considered the most effective intervention for avoiding both an affected pregnancy whilst using autologous gametes in couples with known increased risk, and chromosomal abnormalities. As our understanding in the genetic component in pathological conditions increases, the number of tested disorders will expand, offering a more thorough assessment of one's genetic inheritance. Nevertheless, implementation and development in this field must be accompanied by scientific and ethical considerations to ensure this approach serves the best long‐term interests of individuals and society, promoting justice and autonomy and preserving parenthood and the healthcare system.ConclusionThe combination of CS and PGT aligns with principles of personalized medicine by offering reproductive care tailored to the individual's genetic makeup.
Twenty four‐hour blood pressure and cognitive outcomes in adolescents born extremely preterm and at term
Authors: Piazza Chandelle L. , Doyle Lex W. , Pascoe Leona , Mainzer Rheanna M. , Takagi Michael , Cheong Jeanie L. , Anderson Peter J. ,   the Victorian Infant Collaborative Study Group
Published: August 2024

AbstractAimTo explore the impact of blood pressure on cognitive outcomes at 18 years of age in individuals born extremely preterm (<28 weeks' gestation) and at term (≥37 weeks' gestation).MethodsProspective longitudinal cohort comprising 136 young adults born extremely preterm and 120 matched term controls born in Victoria, Australia in 1991 and 1992. Using linear regression, we analysed the relationships between 24‐h mean ambulatory blood pressure, systolic and diastolic hypertension with cognitive outcomes.ResultsFor both birth groups combined, higher 24‐h mean ambulatory blood pressure and systolic hypertension were associated with similar or worse cognitive outcomes. The strongest relationships were between higher 24‐h mean ambulatory blood pressure and systolic hypertension with poorer general intellect, visual learning and visual memory. We found little evidence that relationships between ambulatory blood pressure and cognitive outcomes differed by birth group.ConclusionHigher 24‐h mean ambulatory blood pressure and systolic hypertension were associated with poorer cognitive outcomes in individuals born extremely preterm and at term, particularly in general intelligence and visual memory.
Trends in habitat quality and habitat degradation in terrestrial protected areas
Authors: Zhao Jianqiao , Yu Le , Newbold Tim , Chen Xin 
Published: August 2024

AbstractProtected areas are typically considered a cornerstone of conservation programs and play a fundamental role in protecting natural areas and biodiversity. Human‐driven land‐use and land‐cover (LULC) changes lead to habitat loss and biodiversity loss inside protected areas, impairing their effectiveness. However, the global dynamics of habitat quality and habitat degradation in protected areas remain unclear. We used the Integrated Valuation of Ecosystem Services and Trade‐offs (InVEST) model based on global annual remotely sensed data to examine the spatial and temporal trends in habitat quality and degradation in global terrestrial protected areas. Habitat quality represented the ability of habitats to provide suitable conditions for the persistence of individuals and populations, and habitat degradation represented the impacts on habitats from human‐driven LULC changes in the surrounding landscape. Based on a linear mixed‐effects modeling method, we also explored the relationship between habitat degradation trends and protected area characteristics, biophysical factors, and socioeconomic factors. Habitat quality declined by 0.005 (0.6%) and habitat degradation increased by 0.002 (11%) from 1992 to 2020 globally, and similar trends occurred even in remote or restrictively managed protected areas. Habitat degradation was attributed primarily to nonirrigated cropland (62%) and urbanization (27%) in 2020. Increases in elevation, gross domestic production per capita, and human population density and decreases in agricultural suitability were associated with accelerated habitat degradation. Our results suggest that human‐induced LULC changes have expanded from already‐exploited areas into relatively undisturbed areas, and that in wealthy countries in particular, degradation is related to rapid urbanization and increasing demand for agricultural products.
ProtienCNN‐BLSTM: An efficient deep neural network with amino acid embedding‐based model of protein sequence classification and biological analysis
Authors: Lilhore Umesh Kumar , Simaiya Sarita , Dalal Surjeet , Faujdar Neetu , Sharma Yogesh Kumar , Rao K. B. V. Brahma , Maheswara Rao V. V. R. , Tomar Shilpi , Ghith Ehab , Tlija Mehdi 
Published: August 2024

AbstractProtein sequence classification needs to be performed quickly and accurately to progress bioinformatics advancements and the production of pharmaceutical products. Extensive comparisons between large databases of known proteins and unknown sequences are necessary in traditional protein classification methods, which can be time‐consuming. This labour‐intensive and slow manual matching and classification method depends on functional and biological commonalities. Protein classification is one of the many fields in which deep learning has recently revolutionized. The data on proteins are organized hierarchically and sequentially, and the most advanced algorithms, such as Deep Family‐based Method (DeepFam) and Protein Convolutional Neural Network (ProtCNN), have shown promising results in classifying proteins into relative groups. On the other hand, these methods frequently refuse to acknowledge this fact. We propose a novel hybrid model called ProteinCNN‐BLSTM to overcome these particular challenges. To produce more accurate protein sequence classification, it combines the techniques of amino acid embedding with bidirectional long short‐term memory (BLSTM) and convolutional neural networks (CNNs). The CNN component is the most effective at capturing local features, while the BLSTM component is the most capable of modeling long‐term dependencies across protein sequences. Through the process of amino acid embedding, sequences of proteins are transformed into numeric vectors, which significantly improves the precision of prediction and the representation of features. Using the standard protein samples PDB‐14189 and PDB‐2272, we analyzed the proposed ProteinCNN‐BLSTM model and the existing deep‐learning models. Compared to the existing models, such as CNN, LSTM, GCNs, CNN‐LSTM, RNNs, GCN‐RNN, DeepFam, and ProtCNN, the proposed model performed more accurately and better than the existing models.
Independent and joint relationships of cardiorespiratory fitness and body mass index with liver fat content
Authors: Jia Yu , Zhou Yiheng , Lei Yi , Zeng Rui , Wan Zhi , Li Dongze , Zhao Qian , Liao Xiaoyang 
Published: August 2024

AbstractAimsTo investigate the relationship between cardiorespiratory fitness (CRF) and liver fat content (LFC) in community‐based participants and highlight their relationship in people with different body mass indices (BMIs).Materials and MethodsUsing UK Biobank data, CRF was estimated with bicycle ergometer fitness testing and was evaluated based on physical work capacity at 75% maximum heart rate (PWC75%). LFC was quantified through liver proton density fat fraction (PDFF) on magnetic resonance imaging. Multivariate linear regression models were used to analyse the associations of CRF and BMI with absolute reduction and percentage change in PDFF (%).ResultsIn total, 5765 participants with a mean age of 55.57 years and a median (range) follow‐up of 10.7 (4.0–17.7) years were included. Compared with the lowest PWC75% tertile, the absolute reduction and percentage change in PDFF in the highest PWC75% tertile were −0.450 (95% confidence interval [CI] −0.699 to −0.192) and −4.152 (95% CI −6.044 to −2.104), respectively. These associations were independent of BMI, and individuals with obesity and normal weight had the largest absolute reduction and percentage change in LFC, respectively (p for interaction <0.001). Joint analysis showed that PWC75% and BMI had a negative dose–response relationship with PDFF. These associations were consistent in different sex and age subgroups (p for interaction >0.05).ConclusionsThere was a significant negative association between CRF and LFC, and this association was independent of BMI. The results of this study strongly recommend improving CRF to mitigate LFC.
A cohort analysis of familial partial lipodystrophy from two Mediterranean countries
Authors: Fernández‐Pombo Antía , Yildirim Simsir Ilgin , Sánchez‐Iglesias Sofía , Ozen Samim , Castro Ana I. , Atik Tahir , Loidi Lourdes , Onay Huseyin , Prado‐Moraña Teresa , Adiyaman Cem , Díaz‐López Everardo Josué , Altay Canan , Ginzo‐Villamayor Maria José , Akinci Baris , Araújo‐Vilar David 
Published: August 2024

AbstractAimTo assess the disease burden of familial partial lipodystrophy (FPLD) caused by LMNA (FPLD2) and PPARG (FPLD3) variants to augment the knowledge of these rare disorders characterized by selective fat loss and metabolic complications.Materials and MethodsAn observational longitudinal study, including 157 patients (FPLD2: 139 patients, mean age 46 ± 17 years, 70% women; FPLD3: 18 patients, mean age: 44 ± 17 years, 78% women) from 66 independent families in two countries (83 from Turkey and 74 from Spain), was conducted.ResultsPatients were diagnosed at a mean age of 39 ± 19 years, 20 ± 16 years after the first clinical signs appeared. Men reported symptoms later than women. Symptom onset was earlier in FPLD2. Fat loss was less prominent in FPLD3. In total, 92 subjects (59%) had diabetes (age at diagnosis: 34 ± 1 years). Retinopathy was more commonly detected in FPLD3 (P < .05). Severe hypertriglyceridaemia was more frequent among patients with FPLD3 (44% vs. 17%, P = .01). Hepatic steatosis was detected in 100 subjects (66%) (age at diagnosis: 36 ± 2 years). Coronary artery disease developed in 26 patients (17%) and 17 (11%) suffered from a myocardial infarction. Turkish patients had a lower body mass index, a higher prevalence of hepatic steatosis, greater triglyceride levels and a tendency towards a higher prevalence of coronary artery disease. A total of 17 patients died, with a mean time to death of 75 ± 3 years, which was shorter in the Turkish cohort (68 ± 2 vs. 83 ± 4 years, P = .01). Cardiovascular events were a major cause of death.ConclusionsOur analysis highlights severe organ complications in patients with FPLD, showing differences between genotypes and Mediterranean countries. FPLD3 presents a milder phenotype than FPLD2, but with comparable or even greater severity of metabolic disturbances.
Steamed hay and alfalfa pellets for the management of severe equine asthma
Authors: Symoens Antoine , Westerfeld Roxane , Vives Berta Mozo , André Valentine , Moulon Laurine , Collomb Marine , Richard Hélène , Juette Tristan , Bédard Christian , Leclère Mathilde 
Published: August 2024

AbstractBackgroundSteaming hay significantly reduces respirable particles and provides a palatable alternative to dry hay for horses with asthma, but there are few prospective studies demonstrating the clinical efficacy of steamed hay.ObjectivesTo compare the efficacy of alfalfa pellets and steamed hay in improving lung function and inflammation of horses with severe asthma (SEA).Study DesignControlled crossover study.MethodsTen horses with SEA were enrolled and nine completed the study. Horses were housed indoors and fed hay. Once in exacerbation, they were fed pellets and steamed hay for 4 weeks, in a crossover design. Weighted clinical scores and lung function were recorded weekly. Bronchoalveolar lavage fluid (BALF) cytology and mucus scores were recorded before and after each diet.ResultsBased on linear mixed model (LMM) analysis, weighted clinical scores significantly improved over time (p < 0.001, no diet effect or time‐diet interactions). With pellets, weighted clinical scores decreased from (median (interquartile range)) 13 (5.5) to 2 (1.5), while with steamed hay, they decreased from 10 (9.5) to 6 (8.5). With pellets, lung resistance decreased significantly from a baseline of (mean (SD)) 2.62 (0.77) cmH2O/L/s to 1.17 (0.66), 0.79 (0.54), 0.70 (0.20), 0.62 (0.18) on Weeks 1–4, respectively (LMM with post hoc tests, p < 0.001). With steamed hay, the resistance decreased significantly from a baseline of 2.34 (0.93) cmH2O/L/s to 1.38 (0.49) and 1.51 (0.66) on Weeks 1 and 2, respectively (p < 0.03). Neutrophils BALF decreased significantly with both diets (pellets: 40.2 (24.4) to 20.1 (11.0) %; steamed hay 30.9 (20.2) to 25.7 (17.6) %; LMM, p = 0.006).Main LimitationsA small number of horses in a research setting. Dust was not measured in the stalls.ConclusionsClinical scores, lung function and BALF inflammation of horses with SEA improved with steamed hay and pellets, but the effect on lung function was more pronounced with pellets.
Comprehensive laboratory assessment of lonoctocog alfa versus octocog alfa in severe haemophilia A
Authors: Müller Jens , Albert Thilo , Klein Claudia , Horneff Silvia , Rühl Heiko , Pötzsch Bernd , Goldmann Georg , Marquardt Natascha , Oldenburg Johannes 
Published: August 2024

AbstractIntroductionLonoctocog alfa is a single‐chain factor VIII (FVIII) molecule with high binding affinity to von‐Willebrand‐factor. While it is well known that its plasma activity is underestimated by one‐stage clotting assays (OSCA), there is a lack of knowledge on the post‐infusion performance of lonoctocog alfa in global coagulation assays or its potential impact on the haemostatic balance in vivo.AimTo characterize lonoctocog alfa versus octocog alfa in pre‐ and post‐infusion samples obtained from patients undergoing repeated investigation of incremental recovery (IR).MethodsEighteen patients with severe haemophilia A (lonoctocog alfa: 10, octocog alfa: 8) were included. A panel of factor‐specific and global coagulation assays was applied, comprising a FVIII OSCA, two FVIII chromogenic substrate assays (CSA), rotational thrombelastography and thrombin generation (TG). Potential activation of coagulation was assessed by measuring plasma thrombin markers and levels of activated protein C.ResultsComparable IRs were found for lonoctocog alfa and octocog alfa (2.36 [IU/dL]/[IU/kg] vs. 2.55 [IU/dL]/[IU/kg], respectively). Lonoctocog alfa activities were found to be underestimated by the FVIII OSCA while also the two FVIII CSAs showed statistically significant assay discrepancies on lonoctocog alfa. Effects of both FVIII products on rotational thrombelastography were less distinct than those on TG parameters. No elevated pre‐ or significantly shifting post‐infusion plasma levels of coagulation biomarkers were detected.ConclusionLonoctocog alfa and octocog alfa showed comparable recovery and safety in vivo as well as similar impacts on TG in vitro. Observed assay discrepancies on lonoctocog alfa demonstrated variability of results also between different FVIII CSAs.
STK11 (LKB1) immunohistochemistry is a sensitive and specific marker for STK11 adnexal tumours
Authors: Dehghani Amir , Sharma Aarti E , Siegmund Stephanie E , Carreon Chrystalle K , Stewart Colin J R , Medeiros Fabiola , Mirkovic Jelena , Nucci Marisa R , Crum Christopher P , Hornick Jason L , Howitt Brooke E , McCluggage W Glenn , Kolin David L 
Published: August 2024

AimsSTK11 adnexal tumour is a rare, recently described malignant neoplasm that is associated with Peutz–Jeghers syndrome. [Correction added on 3 October 2024, after first online publication: ‘ST11’ in preceding sentence has been corrected to ‘STK11’ in this version.] It predominantly originates from the para‐adnexal soft tissues and often shows secondary involvement of the fallopian tube and ovary. STK11 adnexal tumours have a broad differential diagnosis due to their variable morphology and non‐specific immunoprofile, and diagnostic confirmation currently requires sequencing to identify an STK11 mutation. We investigate the diagnostic utility of STK11 (LKB1) immunohistochemistry (IHC) in a cohort of STK11 adnexal tumours and morphological mimics.Methods and resultsIHC for STK11 was performed on 122 tumours, including 17 STK11 adnexal tumours and 105 morphological mimics (10 female adnexal tumours of Wolffian origin, 22 adult granulosa cell tumours, 10 juvenile granulosa cell tumours, four Sertoli–Leydig cell tumours, two Leydig cell tumours, one Sertoli cell tumour, one steroid cell tumour, four extra‐ovarian sex cord‐stromal tumours, 16 ovarian endometrioid carcinomas, eight tubo‐ovarian high‐grade serous carcinomas, five ovarian mesonephric‐like adenocarcinomas, 14 ovarian carcinosarcomas, five peritoneal malignant mesotheliomas, two pelvic plexiform leiomyomata and one ovarian solid pseudopapillary tumour). All STK11 adnexal tumours showed complete loss of cytoplasmic staining for STK11. All other tumour types showed retained cytoplasmic staining, except for one endometrioid carcinoma with mucinous differentiation which showed complete loss of STK11 expression and a high‐grade serous carcinoma with subclonal loss.ConclusionsSTK11 is a highly sensitive and specific immunohistochemical marker for distinguishing STK11 adnexal tumour from its histological mimics, and can obviate the need for confirmatory molecular studies in the appropriate morphological context.
The impact of public spending on water, sanitation and hygiene adoption: Governance thresholds for complementary policies
Authors: Achuo Elvis D. , Asongu Simplice A. 
Published: August 2024

AbstractDespite the global resolve to ensure the availability and sustainable management of water and sanitation, several people across the world still have very limited or no access to basic drinking water, sanitation and hygiene (WASH) services. Therefore, this study primarily examined the effect of public spending on WASH adoption. The moderating role of governance quality in the nexus among public spending and WASH adoption was equally assessed. The underlying relationships for a global panel of 45 countries over the 2000–2022 period are unravelled with the help of the system Generalised Method of Moments, Driscoll–Kraay robust standard errors and the generalised least squares estimation techniques. Results from various approaches show that public spending has a statistically significant negative effect on WASH adoption. Moreover, the interactive regressions show that public spending negatively interacts with governance to produce a negative net effect of −0.319. The underlying negative effects are apparent when some governance thresholds are exceeded. These thresholds are critical points that when reached, complementary policies are needed in order to maintain the unconditional positive effect of public spending on WASH adoption. It follows that the complementarity between public spending and governance is a sufficient and necessary condition for the promotion of WASH adoption exclusively below certain governance thresholds. Contingent on the empirical results, policymakers are advised to tailor public spending to more conveniently target local‐based WASH initiatives in order to limit bureaucracy and broad‐based policies. Besides, the local population should be endowed with the ability to sanction elected officials when WASH measures are not effectively implemented. Beyond the economic and political governance consideration related to WASH, institutional governance should also be improved at the local level, to the extent that ensuring the respect of interactions between the citizens and the State in the promotion of WASH is also enforced at the local level.
Irrigation and Nitrogen Management Determine Dry Matter Accumulation and Yield of Winter Wheat Under Dryland Conditions
Authors: Ma Lijuan , Ali Muhammad Fraz , Ye Yulan , Huang Xiaohu , Peng Zili , Naseer Muhammad Asad , Wang Rui , Wang Dong 
Published: August 2024

ABSTRACTThe increase in crop yield can be primarily attributed to the combined effect of genetic advancements, as well as increased contributions from nitrogen (N) and water. The accumulation of dry matter plays a crucial role in determining grain yield in winter wheat. The current study aimed to better understand the source‐sink dynamics, analyse the dry matter transport (DMT) before and after anthesis and calculate its ratio to grain yield. In this experiment, eight main cultivars of winter wheat that have been widely cultivated in Shaanxi Province since the 1940s were selected as planting material. Field examinations were conducted using three levels of both irrigation and N. The yield‐related parameters, dry matter accumulation, dry matter distribution, DMT and DMT efficiency were measured. The results showed that irrigation prolonged the time of dry matter accumulation, and the application of N fertiliser increased the rate of dry matter accumulation. The analysis of the dynamic characteristic parameters of dry matter in winter wheat showed that irrigation and N had a significant impact on rate of dry matter accumulation. The proportion of stems, leaves and spikes of new varieties increased significantly (p < 0.05), which increased by 56.67%–69.7%, 13.26%–18.07% and 15.78%–28.26%, respectively, with the varietal improvement. The DMT efficiency increased with varietal improvement and also with increased irrigation and N application. The response of irrigation treatment to DMT and dry matter was more significant. In addition, the irrigation treatment had a higher effect on the DMT efficiency of vegetative organs after anthesis. The logistic equation analysis revealed that water stress accelerated the fulfilment of maximum daily temperature (Tmax), while both the maximum growth rate (Gmax) and dry matter weight (Wmax) decreased as water stress increased. There was a positive linear relationship between dry matter accumulation after anthesis and grain yield. The structural equation model showed that varieties, N application and irrigation had significant positive effects on DMT, post‐anthesis dry matter and grain yield, while irrigation had significant negative effects on DMT efficiency. The accumulation of dry matter in winter wheat after anthesis showed a significant increase with the succession of varieties. The combination of moderate deficit irrigation and fertilisation improved transportation and dry matter accumulation after anthesis in winter wheat, thereby enhancing its production capacity.