bluuebunny/crossref_metadata_2025_split huggingface dataset:
Perinatal‐lethal Gaucher disease presenting with blueberry muffin lesions
Authors: Rosanio Francesco Maria , D’Acunzo Ida , Mozzillo Filomena , Di Pinto Rosita , Tornincasa Chiara , Amabile Sonia , Piccirillo Alessandro , Roma Vincenzina , Giordano Lucio 
Published: August 2021

Abstract“Blueberry muffin baby” is an expression applied to newborns displaying a generalized purpuric rash caused by dermal erythropoiesis. This presentation is typically associated with TORCH (toxoplasmosis, other, rubella, cytomegalovirus, and herpesvirus) complex infections. However, alternative diagnoses should be considered, including other infections, neoplastic diseases, congenital vascular lesions, and metabolic diseases. We report a case of perinatal‐lethal‐type Gaucher disease presenting with cholestasis, hepatosplenomegaly, persistent thrombocytopenia, and blueberry muffin‐like skin lesions.
Immunological features and complications in patients with glycogen storage disease 1b after living donor liver transplantation
Authors: Shimizu Seiichi , Sakamoto Seisuke , Yamada Masaki , Fukuda Akinari , Yanagi Yusuke , Uchida Hajime , Mimori Kotaro , Shoji Kensuke , Funaki Takanori , Miyairi Isao , Nakano Noriyuki , Haga Chizuko , Yoshioka Takako , Imadome Ken‐Ichi , Horikawa Reiko , Kasahara Mureo 
Published: August 2021

AbstractBackgroundLT is an elective treatment choice for children diagnosed with GSD1b that can improve their quality of life and stabilize their glucose intolerance. However, careful attention should be paid to immunosuppression after LT due to the susceptibility to infection because of neutropenia and neutrophil dysfunction in GSD1b patients. This study revealed the immunological features and complications in the early post‐LT period.MethodsWe compared findings between 11 (1.9%) children with GSD1b and 273 children with BA. Analyses using the PSM were performed to overcome selection bias.ResultsDespite persistent low tacrolimus trough levels in GSD1b patients, none of these children developed TCMR within 1 month after LDLT (GSD1b: 0/11 [0%] vs. BA: 86/273 [31.5%], p = .038). This result was also confirmed in PSM. The incidence of bloodstream infections was higher in GSD1b patients than in BA patients in the early phase of the post‐transplant period (GSD1b: 4/11 [36.4%] vs. BA: 33/273 [12.1%], p = .041), but not reach statistical significance in PSM. In a phenotypic analysis, the ratio of CD8+ T cells in GSD1b recipients' peripheral blood mononuclear cell samples was lower than in recipients with BA through the first month after LDLT.ConclusionsWe found that GSD1b recipients were more likely to develop postoperative bloodstream infection than recipients with BA but did not experience TCMR despite low tacrolimus levels in the early post‐LDLT period. A tailored immunosuppression protocol should be prepared for GSD1b recipients after LDLT.
Positive allosteric modulation of NMDA receptors: mechanisms, physiological impact and therapeutic potential
Authors: Geoffroy Chloé , Paoletti Pierre , Mony Laetitia 
Published: August 2021

AbstractNMDA receptors (NMDARs) are glutamate‐gated ion channels that play key roles in synaptic transmission and plasticity. Both hyper‐ and hypo‐activation of NMDARs are deleterious to neuronal function. In particular, NMDAR hypofunction is involved in a wide range of neurological and psychiatric conditions like schizophrenia, intellectual disability, age‐dependent cognitive decline, or Alzheimer's disease. While early medicinal chemistry efforts were mostly focused on the development of NMDAR antagonists, the last 10 years have seen a boom in the development of NMDAR positive allosteric modulators (PAMs). Here we review the currently developed NMDAR PAMs, their pharmacological profiles and mechanisms of action, as well as their physiological effects in healthy animals and animal models of NMDAR hypofunction. In light of the complexity of physiological outcomes of NMDAR PAMs in vivo, we discuss the remaining challenges and questions that need to be addressed to better grasp and predict the therapeutic potential of NMDAR positive allosteric modulation.
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Recent Developments in Air Pumps for Thermal Management of Electronics
Authors: Wen Tsrong-Yi , Ye Jia-Cheng 
Published: August 2021

Abstract
For electronics, poor thermal management could cause severe mechanical and electrical failures. Forced convective air cooling, i.e., flowing air over a hot surface, is one of the most efficient and economical solutions to manage thermal issues of electronics. Air pump is used to initiate and sustain airflow required in forced convection. This paper reviews both the mechanical and the nonmechanical air pumps that have been using widely in current electronics or have a great potential in future electronics. The mechanical pumps include axial fans, blowers, beam fans, and diaphragm pumps, while the nonmechanical pump specifically focuses on electrohydrodynamic pumps. This paper presents the working principle first and then the recent developments, including the pump itself (design, characteristics, etc.) and the applications in thermal management (placement, integration, etc.). In the end, this paper conducts the strength analysis (flow rate, pressure, noise, flexibility, and reliability) among the reviewed five types of air pumps.
Effects of Sleeve Parameters on Cavitation Control Performance in Steam Trap Valves
Authors: Qiu Chang , Gao Zhi-xin , Jin Zhi-jiang , Qian Jin-yuan 
Published: August 2021

Abstract
The steam trap valve is used in thermal power systems to pour out condensate water and keep steam inside. While flowing through steam trap valves, the condensate water can easily reach cavitation, which may cause serious damage to the piping system. In this paper, in order to control cavitation inside steam trap valves, effects of sleeve parameters, including orifice diameter, installation angle and thickness, are investigated using a cavitation model. The pressure, velocity, and vapor distribution inside valves are analyzed and compared for different sleeve geometrical parameters. The total vapor volumes are also predicted and compared. The results show that the sleeve parameters have a significant influence on the cavitation intensity and cavitation vapor distributions. Specifically, the orifice diameter of the sleeve has much larger effect on each aspect than that of other two geometrical parameters of the sleeve. The improved geometrical parameters of the sleeve are determined to suppress the cavitation inside the valve. The sleeve with smaller diameter orifices, higher installation angle (maximum 80 deg), and higher thickness is recommended in practice for better anticavitation performance. The work is of significance for cavitation control and the optimization design of steam trap valves.
Some Reflections on Sparrow's Work on Similarity Solutions for Laminar Film Condensation on a Vertical Plate
Authors: Dhir Vijay K. 
Published: August 2021

Abstract
In this contribution in honor of the late Prof. E. M. Sparrow, we reflect on the pioneering work of Sparrow and Gregg on the development of similarity solutions for laminar film condensation on a vertical plate. Dhir and Lienhard, using this work as a basis, developed a generalized solution for isothermal curved surfaces on which gravitational acceleration varied along the surface and for variable gravity situations. Subsequently, nonisothermal surfaces were also considered. These studies were publisher earlier in the Journal of Heat Transfer.
High-Dimensional Reliability Method Accounting for Important and Unimportant Input Variables
Authors: Yin Jianhua , Du Xiaoping 
Published: August 2021

Abstract
Reliability analysis is a core element in engineering design and can be performed with physical models (limit-state functions). Reliability analysis becomes computationally expensive when the dimensionality of input random variables is high. This work develops a high-dimensional reliability analysis method through a new dimension reduction strategy so that the contributions of unimportant input variables are also accommodated after dimension reduction. Dimension reduction is performed with the first iteration of the first-order reliability method (FORM), which identifies important and unimportant input variables. Then a higher order reliability analysis is performed in the reduced space of only important input variables. The reliability obtained in the reduced space is then integrated with the contributions of unimportant input variables, resulting in the final reliability prediction that accounts for both types of input variables. Consequently, the new reliability method is more accurate than the traditional method which fixes unimportant input variables at their means. The accuracy is demonstrated by three examples.
Early detection of neovascular age-related macular degeneration: an economic evaluation based on data from the EDNA study
Authors: Hernandez Rodolfo , Kennedy Charlotte , Banister Katie , Goulao Beatriz , Cook Jonathan , Sivaprasad Sobha , Hogg Ruth , Azuara-Blanco Augusto , Heimann Heinrich , Dimitrova Maria , Gale Richard , Porteous Mia , Ramsay Craig R , Chakravarthy Usha , Scotland Graham S 
Published: August 2021

Background/aimsTo evaluate the cost-effectiveness of non-invasive monitoring tests to detect the onset of neovascular age-related macular degeneration (nAMD) in the unaffected second eye of patients receiving treatment for unilateral nAMD in a UK National Health Service (NHS) hospital outpatient setting.MethodsA patient-level state transition model was constructed to simulate the onset, detection, and treatment of nAMD in the second eye. Five index tests were compared: self-reported change in visual function, Amsler test, clinic measured change in visual acuity from baseline, fundus assessment by clinical examination or colour photography, and spectral domain optical coherence tomography (SD-OCT). Diagnosis of nAMD was confirmed by fundus fluorescein angiography (FFA) before prompt initiation of antivascular endothelial growth factor treatment. Quality-adjusted life-years (QALYs) and costs of health and social care were modelled over a 25-year time horizon.ResultsSD-OCT generated more QALYs (SD-OCT, 5.830; fundus assessment, 5.787; Amsler grid, 5.736, patient’s subjective assessment, 5.630; and visual acuity, 5.600) and lower health and social care costs (SD-OCT, £19 406; fundus assessment, £19 649; Amsler grid, £19 751; patient’s subjective assessment, £20 198 and visual acuity, £20 444) per patient compared with other individual monitoring tests. Probabilistic sensitivity analysis indicated a high probability (97%–99%) of SD-OCT being the preferred test across a range of cost-effectiveness thresholds (£13 000–£30 000) applied in the UK NHS.ConclusionsEarly treatment of the second eye following FFA confirmation of SD-OCT positive findings is expected to maintain better visual acuity and health-related quality of life and may reduce costs of health and social care over the lifetime of patients.
Five-year outcomes of eyes initially enrolled in the 2-year BEVORDEX trial of bevacizumab or dexamethasone implants for diabetic macular oedema
Authors: Cornish Elisa E , Teo Kelvin YC , Gillies Mark C , Lim Lyndell L , Nguyen Vuong , Wickremasinghe Sanjeewa , Mehta Hemal , McAllister Ian L , Fraser-Bell Samantha 
Published: August 2021

BackgroundThe BEVORDEX trial compared outcomes of eyes with diabetic macular oedema (DMO) randomised to receive either intravitreal dexamethasone (DEX-) implant or bevacizumab over 2 years. We assessed long-term efficacy and safety outcomes 5 years from enrolment.MethodsPatients received standard clinical care after they finished the study. Their files were reviewed for visual and anatomical outcomes, post-trial treatments and complications.ResultsThree-year and five-year data were available for 82% and 59% of eyes enrolled in the BEVORDEX study, respectively. Visual acuity gains at end of trial were generally lost by both treatment groups at 5 years but the macular thickness did not change from end of trial to 5 years. A similar proportion of eyes from each treatment group gained ≥10 letters at 5 years from enrolment in the BEVORDEX trial.Eyes that were initially randomised to the DEX-implant group had significantly fewer treatments but were more likely to develop proliferative diabetic retinopathy (PDR) over the 5-year period compared with eyes initially randomised to bevacizumab. The proportion of eyes that had cataract surgery by 5 years was similar between initial treatment groups.ConclusionsEyes in the BEVORDEX trial had similar 5-year rates of cataract surgery, however, more eyes converted to PDR in the group initially treated with DEX-implant. Eyes that were initially treated for 2 years with either intravitreal DEX-implant of bevacizumab followed by standard of care had similar visual and anatomical outcomes at 5 years.
Plasminogen activator inhibitor is significantly elevated in liver transplant recipients with decompensated NASH cirrhosis
Authors: Rivas Gloriany , Hummer-Bair Breianna , Bezinover Dmitri , Kadry Zakiyah , Stine Jonathan 
Published: August 2021

BackgroundNon-alcoholic fatty liver disease is a prohaemostatic state with abnormal primary, secondary and tertiary haemostasis. Plasminogen activator inhibitor (PAI)-1 is the best-established marker for prohaemostasis in non-alcoholic fatty liver disease. While epidemiological studies demonstrate decompensated non-alcoholic steatohepatitis (NASH) cirrhosis patients have increased rates of venous thromboembolism, including portal vein thrombosis, mechanistic studies have focused exclusively on patients without or with compensated cirrhosis. We aimed to characterizecharacterise PAI-1 levels in decompensated NASH cirrhosis.MethodsPAI-1 level was measured in consecutive adult liver transplant recipients immediately prior to liver transplantation. Multivariable models were constructed using linear regression to assess factors related to PAI-1 level.ResultsForty-six subjects with mean age 57 (IQR 53–62) years and Model for Endstage Liver Disease (MELD) score of 34 (IQR 30–40) were enrolled. Baseline characteristics were similar between NASH (n=10) and non-NASH (n=36) subjects except for rates of diabetes and hyperlipidaemia. Mean PAI-1 level was greater in NASH (53.9, 95% CI 33.3 to 74.5 mg/mL) when compared with non-NASH (36.1, 95% CI 28.7 to 43.5), p=0.040. NASH remained independently predictive of PAI-1 level prior to transplant on adjusted multivariable modelling (β 40.13, 95% CI 14.41 to 65.86, p=0.003). Conclusions: PAI-1 level is significantly elevated in decompensated NASH cirrhosis independent of other pro-haemostatic factors. This may explain the greater rates of venous thromboembolism in decompensated NASH cirrhosis. Future study focusing on prevention of venous thromboembolism in this population is paramount to improve patient-oriented outcomes given the high morbidity and mortality of venous thromboembolism and the significant impact it has on transplant candidacy.
The genomic epidemiology of multi-drug resistant invasive non-typhoidalSalmonellain selected sub-Saharan African countries
Authors: Park Se Eun , Pham Duy Thanh , Pak Gi Deok , Panzner Ursula , Maria Cruz Espinoza Ligia , von Kalckreuth Vera , Im Justin , Mogeni Ondari D. , Schütt-Gerowitt Heidi , Crump John A , Breiman Robert F , Adu-Sarkodie Yaw , Owusu-Dabo Ellis , Rakotozandrindrainy Raphaël , Bassiahi Soura Abdramane , Aseffa Abraham , Gasmelseed Nagla , Sooka Arvinda , Keddy Karen H , May Jürgen , Aaby Peter , Biggs Holly M , Hertz Julian T , Montgomery Joel M , Cosmas Leonard , Olack Beatrice , Fields Barry , Sarpong Nimako , Razafindrabe Tsiriniaina Jean Luco , Raminosoa Tiana Mirana , Kabore Leon Parfait , Sampo Emmanuel , Teferi Mekonnen , Yeshitela Biruk , El Tayeb Muna Ahmed , Krumkamp Ralf , Dekker Denise Myriam , Jaeger Anna , Tall Adama , Gassama Amy , Niang Aissatou , Bjerregaard-Andersen Morten , Løfberg Sandra Valborg , Deerin Jessica Fung , Park Jin Kyung , Konings Frank , Carey Megan E , Van Puyvelde Sandra , Ali Mohammad , Clemens John , Dougan Gordon , Baker Stephen , Marks Florian 
Published: August 2021

BackgroundInvasive non-typhoidalSalmonella(iNTS) is one of the leading causes of bacteraemia in sub-Saharan Africa. We aimed to provide a better understanding of the genetic characteristics and transmission patterns associated with multi-drug resistant (MDR) iNTS serovars across the continent.MethodsA total of 166 iNTS isolates collected from a multi-centre surveillance in 10 African countries (2010–2014) and a fever study in Ghana (2007–2009) were genome sequenced to investigate the geographical distribution, antimicrobial genetic determinants and population structure of iNTS serotypes–genotypes. Phylogenetic analyses were conducted in the context of the existing genomic frameworks for various iNTS serovars. Population-based incidence of MDR-iNTS disease was estimated in each study site.ResultsSalmonellaTyphimurium sequence-type (ST) 313 andSalmonellaEnteritidis ST11 were predominant, and both exhibited high frequencies of MDR;SalmonellaDublin ST10 was identified in West Africa only. Mutations in thegyrAgene (fluoroquinolone resistance) were identified inS. Enteritidis andS. Typhimurium in Ghana; an ST313 isolate carryingblaCTX-M-15was found in Kenya. International transmission of MDR ST313 (lineage II) and MDR ST11 (West African clade) was observed between Ghana and neighbouring West African countries. The incidence of MDR-iNTS disease exceeded 100/100 000 person-years-of-observation in children aged <5 years in several West African countries.ConclusionsWe identified the circulation of multiple MDR iNTS serovar STs in the sampled sub-Saharan African countries. Investment in the development and deployment of iNTS vaccines coupled with intensified antimicrobial resistance surveillance are essential to limit the impact of these pathogens in Africa.
Efficacy and safety of diuretics in heart failure with preserved ejection fraction: a scoping review
Authors: Singh Arushi , Agarwal Anubha , Wafford Q. Eileen , Shah Sanjiv J , Huffman Mark , Khan Sadiya 
Published: August 2021

ObjectiveDiuretics reduce congestion in patients with heart failure with preserved ejection fraction (HFpEF). However, comparison of clinical effects across diuretic classes or combinations of diuretics in patients with HFpEF are not well described. Therefore, we sought to conduct a scoping review to map trial data of diuretic efficacy and safety in patients with HFpEF.Review methods and resultsWe searched multiple bibliometric databases for published literature and ClinicalTrials.gov, and hand searched unpublished studies comparing different classes of diuretics to usual care or placebo in patients with HFpEF. We included randomised controlled trials or quasi-experimental studies. Two authors independently screened and extracted key data using a structured form. We identified 13 published studies on diuretics in HFpEF, with 1 evaluating thiazide use, 7 on mineralocorticoid receptor antagonists (MRAs) and 5 on sodium-glucose co-transporter 2 inhibitors (SGLT2i). There remain 17 ongoing trials evaluating loop diuretics (n=1), MRAs (n=5), SGLT2i (n=10) and a polydiuretic (n=1), including 2 well-powered trials of SGLT2i that will be completed in 2021.ConclusionsThe limited number of published trials evaluating different classes of diuretics in patients with HFpEF have been generally small and short term. Ongoing and emerging trials of single or combination diuretics with greater power will be useful to better define their safety and efficacy.Scoping review registrationdoi:10.18131/g3-dejv-tm77.
THADA drives Golgi residency and upregulation of PD-L1 in cancer cells and provides promising target for immunotherapy
Authors: Li Chushu , Chi Hao , Deng Shouyan , Xu Ke , Wang Huanbin , Yao Han , Wang Yungang , Chen Dawei , Guo Xun , Fang Jing-Yuan , He Fang , Xu Jie 
Published: August 2021

BackgroundThe abnormal upregulation of programmed death-ligand 1 (PD-L1) in cancer cells inhibits T cell-mediated cytotoxicity, but the molecular mechanisms that drive and maintain PD-L1 expression are still incompletely understood.MethodsCombined analyses of genomes and proteomics were applied to find potential regulators of PD-L1. In vitro experiments were performed to investigate the regulatory mechanism of PD-L1 by thyroid adenoma associated gene (THADA) using human colorectal cancer (CRC) cells. The prevalence of THADA was analyzed using CRC tissue microarrays by immunohistochemistry. T cell killing assay, programmed cell death 1 binding assay and MC38 transplanted tumor models in C57BL/6 mice were developed to investigate the antitumor effect of THADA.ResultsTHADA is critically required for the Golgi residency of PD-L1, and this non-redundant, coat protein complex II (COPII)-associated mechanism maintains PD-L1 expression in tumor cells. THADA mediated the interaction between PD-L1 as a cargo protein with SEC24A, a module on the COPII trafficking vesicle. Silencing THADA caused absence and endoplasmic reticulum (ER) retention of PD-L1 but not major histocompatibility complex-I, inducing PD-L1 clearance through ER-associated degradation. Targeting THADA substantially enhanced T cell-mediated cytotoxicity, and increased CD8+ T cells infiltration in mouse tumor tissues. Analysis on clinical tissue samples supported a potential role of THADA in upregulating PD-L1 expression in cancer.ConclusionsOur data reveal a crucial cellular process for PD-L1 maturation and maintenance in tumor cells, and highlight THADA as a promising target for overcoming PD-L1-dependent immune evasion.
Age-specific atrial fibrillation incidence, attributable risk factors and risk of stroke and mortality: results from the MORGAM Consortium
Authors: Morseth Bente , Geelhoed Bastiaan , Linneberg Allan , Johansson Lars , Kuulasmaa Kari , Salomaa Veikko , Iacoviello Licia , Costanzo Simona , Söderberg Stefan , Niiranen Teemu J , Vishram-Nielsen Julie K K , Njølstad Inger , Wilsgaard Tom , Mathiesen Ellisiv B , Løchen Maja-Lisa , Zeller Tanja , Blankenberg Stefan , Ojeda Francisco M , Schnabel Renate B 
Published: August 2021

BackgroundThe main aim was to examine age-specific risk factor associations with incident atrial fibrillation (AF) and their attributable fraction in a large European cohort. Additionally, we aimed to examine risk of stroke and mortality in relation to new-onset AF across age.MethodsWe used individual-level data (n=66 951, 49.1% men, age range 40–98 years at baseline) from five European cohorts of the MOnica Risk, Genetics, Archiving and Monograph Consortium. The participants were followed for incident AF for up to 10 years and the association with modifiable risk factors from the baseline examinations (body mass index (BMI), hypertension, diabetes, daily smoking, alcohol consumption and history of stroke and myocardial infarction (MI)) was examined. Additionally, the participants were followed up for incident stroke and all-cause mortality after new-onset AF.ResultsAF incidence increased from 0.9 per 1000 person-years at baseline age 40–49 years, to 17.7 at baseline age ≥70 years. Multivariable-adjusted Cox models showed that higher BMI, hypertension, high alcohol consumption and a history of stroke or MI were associated with increased risk of AF across age groups (p<0.05). Between 30% and 40% of the AF risk could be attributed to BMI, hypertension and a history of stroke or MI. New-onset AF was associated with a twofold increase in risk of stroke and death at ages≥70 years (p≤0.001).ConclusionIn this large European cohort aged 40 years and above, risk of AF was largely attributed to BMI, high alcohol consumption and a history MI or stroke from middle age. Thus, preventive measures for AF should target risk factors such as obesity and hypertension from early age and continue throughout life.