bluuebunny/crossref_metadata_2025 huggingface dataset:
Graspable foods and tools elicit similar responses in visual cortex
Authors: Ritchie John Brendan , Andrews Spencer T , Vaziri-Pashkam Maryam , Baker Chris I
Published: September 2024

The extrastriatal visual cortex is known to exhibit distinct response profiles to complex stimuli of varying ecological importance (e.g. faces, scenes, and tools). Although food is primarily distinguished from other objects by its edibility, not its appearance, recent evidence suggests that there is also food selectivity in human visual cortex. Food is also associated with a common behavior, eating, and food consumption typically also involves the manipulation of food, often with hands. In this context, food items share many properties with tools: they are graspable objects that we manipulate in self-directed and stereotyped forms of action. Thus, food items may be preferentially represented in extrastriatal visual cortex in part because of these shared affordance properties, rather than because they reflect a wholly distinct kind of category. We conducted functional MRI and behavioral experiments to test this hypothesis. We found that graspable food items and tools were judged to be similar in their action-related properties and that the location, magnitude, and patterns of neural responses for images of graspable food items were similar in profile to the responses for tool stimuli. Our findings suggest that food selectivity may reflect the behavioral affordances of food items rather than a distinct form of category selectivity.
Efficacy of early use of percutaneous stellate ganglion block for electrical storms
Authors: Baldi Enrico , Dusi Veronica , Rordorf Roberto , Currao Alessia , Compagnoni Sara , Sanzo Antonio , Gentile Francesca Romana , Frea Simone , Gravinese Carol , Angelini Filippo , Cauti Filippo Maria , Iannopollo Gianmarco , De Sensi Francesco , Gandolfi Edoardo , Frigerio Laura , Crea Pasquale , Zagari Domenico , Casula Matteo , Binaghi Giulio , Sangiorgi Giuseppe , Barone Lucy , Persampieri Simone , Dell’Era Gabriele , Patti Giuseppe , Colombo Claudia , Mugnai Giacomo , Tavella Domenico , Notaristefano Francesco , Barengo Alberto , Falcetti Roberta , Girardengo Giulia , D’Angelo Giuseppe , Tanese Nikita , Sgromo Vito , De Ferrari Gaetano Maria , Savastano Simone ,   all the STAR study group, Fasolino Alessandro , Pontremoli Silvia Miette , Bendotti Sara , Primi Roberto , Auricchio Angelo , Conte Giulio , Rossi Pietro , Morena Arianna , Toscano Antonio , Carinci Valeria , Dattilo Giuseppe , Mancini Nastasia , Tritto Massimo , Corda Marco , Tola Gianfranco , Cesarano Elisa , Scudu Claudia , Lupi Alessandro , Carassia Claudia , De Vecchi Federica , Vargiu Sara , Perego Giovanni Battista , Chieffo Enrico
Published: September 2024

Aims

Electrical storm (ES) is a life-threatening condition requiring a rapid management. Percutaneous stellate ganglion block (PSGB) is proved to be safe and effective on top of standard therapy, but no data are available about its early use.

Methods and results

We considered all patients enrolled from 1 July 2017 to 30 April 2024 in the STAR registry (STellate ganglion block for Arrhythmic stoRm), a multicentre, international, observational, prospective registry. We aimed to assess the effectiveness of the first PSGB only. Patients were divided into two groups depending on whether they received PSGB before [early PSGB, often due to antiarrhythmic drug (AAD) contraindication] or after (delayed PSGB) intravenous AADs (AADs other than beta-blockers). We considered 180 PSGB (26 early PSGB and 154 AAD first). In the early PSGB group, we observed a statistically significant reduction of treated arrhythmic events in the hour after PSGB compared with the hour before: 0 (0–0) vs. 4.5 (1–10), P < 0.001, and the extent of the reduction was similar in the early PSGB and delayed PSGB groups [−4.5 (−7 to −2) vs. −2.5 (−3.5 to −1.5), P = ns]. The percentage of patients free from arrhythmias was similar in the two groups up to 12 h after PSGB (81 vs. 84%, P = 0.6, after 1 h; 77 vs. 79%, P = 0.8, at 3 h; and 65 vs. 69%, P = 0.7, after 12 h).

Conclusion

Percutaneous stellate ganglion block is proved to be effective also when used early in the treatment of ES. Due to its rapidity of action, our results may suggest its early use to reduce the number of defibrillations and possibly to reduce the likelihood of a refractory ES.
Late mitral leaflet tear after transcatheter edge-to-edge repair for acute ischaemic mitral regurgitation: a case report
Authors: Cannata Francesco , Tamborini Gloria , Zanobini Marco , Marana Ivana , Muratori Manuela , De Marco Federico , Pontone Gianluca , Pepi Mauro
Published: September 2024

Background

Acute mitral regurgitation due to papillary muscle rupture is a severe complication of acute myocardial infarction. Transcatheter edge-to-edge repair is emerging as an effective alternative to surgical treatment, with encouraging outcomes. Leaflet adverse events are rare and are associated with relapse of significant mitral regurgitation.

Case summary

A 54-year-old man arrived at our hospital with a late presentation of ST-elevation myocardial infarction. During primary percutaneous coronary intervention of the circumflex coronary artery, a partial papillary muscle rupture occurred with acute severe mitral regurgitation and cardiogenic shock. Due to the severe haemodynamic instability, the patient underwent an emergent transcatheter edge-to-edge repair with MitraClip device during Impella support with mitral regurgitation resolution and haemodynamic stabilization. At 2-month follow-up, an interclip leaflet tear occurred with relapse of severe mitral regurgitation, requiring a mitral valve replacement surgery.

Discussion

Acute mitral regurgitation due to papillary muscle rupture is a serious complication of acute myocardial infarction. Management is based on haemodynamic stabilization and surgery. The transcatheter edge-to-edge repair is emerging as a therapeutic alternative in high-risk cases. Leaflet adverse events rarely occur during the transcatheter edge-to-edge repair procedure or before patient discharge. Our case is the first to report a late leaflet adverse event, occurring two months after the procedure and, interestingly, after an acute myocardial infarction conditioning an ischaemic mitral regurgitation. This event may be the result of the progressive adverse remodelling of left ventricular inferolateral akinetic wall, with consequent increase of tethering forces on the posterior leaflet, tensioned in the opposite direction by the clip.
External fixation of an internal aortic annuloplasty device: advancing the technique
Authors: Girdauskas Evaldas , Stock Sina , Owais Tamer , Dumps Christian , Von Stumm Maria , Holst Theresa
Published: September 2024

We present a modified technique of Hemispherical Aortic Annuloplasty Reconstructive Technology (HAART) 200 annuloplasty ring implantation in bicuspid aortic valve morphology by external fixation of the looping sutures to avoid common complications associated with the original implantation technique. Preliminary results are promising and should be confirmed in subsequent multicentre studies.
Breast cancer and cardiovascular health
Authors: López-Fernández Teresa , Marco Irene , Aznar Marianne C , Barac Ana , Bergler-Klein Jutta , Meattini Icro , Scott Jessica M , Cardinale Daniela , Dent Susan
Published: September 2024

Modern cancer therapies greatly improve clinical outcomes for both early and advanced breast cancer patients. However, these advances have raised concerns about potential short- and long-term toxicities, including cardiovascular toxicities. Therefore, understanding the common risk factors and underlying pathophysiological mechanisms contributing to cardiovascular toxicity is essential to ensure best breast cancer outcomes. While cardio-oncology has emerged as a sub-speciality to address these challenges, it is essential that all cardiologists recognize and understand the cardiovascular consequences of cancer therapy. This review aims to provide a comprehensive overview of the potential adverse cardiovascular effects associated with modern breast cancer therapies. A preventive, diagnostic, and therapeutic workflow to minimize the impact of cardiovascular toxicity on patient outcomes is presented. Key aspects of this workflow include regular monitoring of cardiovascular function, early detection and management of cancer therapy-related cardiovascular toxicities, and optimization of cardiovascular risk factor control. By highlighting the gaps in knowledge in some areas, this review aims to emphasize the critical role of cardio-oncology research in ensuring the holistic well-being of patients with breast cancer.
A randomized controlled implementation study integrating patient self-screening with a remote central monitoring system to screen community dwellers aged 75 years and older for atrial fibrillation
Authors: Wong Kam Cheong , Nguyen Tu N , Marschner Simone , Turnbull Samual , Indrawansa Anupama Balasuriya , White Rose , Burns Mason Jenner , Gopal Vishal , Min Haeri , Quintans Desi , von Huben Amy , Trankle Steven A , Usherwood Tim , Lindley Richard I , Kumar Saurabh , Chow Clara K
Published: September 2024

Aims

Diagnosis of atrial fibrillation (AF) provides opportunities to reduce stroke risk. This study aimed to compare AF diagnosis rates, participant satisfaction, and feasibility of an electrocardiogram (ECG) self-screening virtual care system with usual care.

Methods and results

This randomized controlled implementation study involving community-dwelling people aged ≥75 years was conducted from May 2021 to June 2023. Participants were given a handheld single-lead ECG device and trained to self-record ECGs once daily on weekdays for 12 months. The control group received usual care with their general practitioners in the first 6 months and participated in the subsequent 6 months. Atrial fibrillation diagnosis and participant satisfaction were assessed at 6 months. Two hundred participants (mean age 79.0 ± 3.4 years; 54.0% female; 72.5% urban) were enrolled. Atrial fibrillation was diagnosed in 10/97 (10.3%) intervention participants and 2/100 (2.0%) in the control group (odds ratio 5.6, 95% confidence interval 1.4–37.3, P = 0.03). In the intervention, 80% of AF cases were diagnosed within 3 months. 91/93 (97.9%) intervention participants and 55/93 (59.1%) control-waitlisted participants (P < 0.001) were satisfied with AF screening. Of the expected 20 days per month, the overall monthly median number of days participants self-recorded ECGs was 20 (interquartile range 17–22). Participants were confident using the device (93%), reported it was easy to use (98%), and found screening efficient (96%).

Conclusion

Patient-led AF self-screening using single-lead ECG devices with a remote central monitoring system was feasible, acceptable, and effective in diagnosing AF among older people. This screening model could be adapted for implementation, interfacing with integrated care models within existing health systems.

Registration

Australian New Zealand Clinical Trials Registry identifier: ACTRN12621000184875.
Natural products and derivatives as Japanese encephalitis virus antivirals
Authors: Mi Yunqi , Guo Yan , Luo Xuliang , Bai Yang , Chen Haonan , Wang Meihua , Wang Yang , Guo Jiao
Published: September 2024

Japanese encephalitis virus (JEV) causes acute Japanese encephalitis (JE) in humans and reproductive disorders in pigs. There are ~68 000 cases of JE worldwide each year, with ~13 600–20 400 deaths. JE infections have a fatality rate of one-third, and half of the survivors experience permanent neurological sequelae. The disease is prevalent throughout the Asia–Pacific region and has the potential to spread globally. JEV poses a serious threat to human life and health, and vaccination is currently the only strategy for long-term sustainable protection against JEV infection. However, licensed JEV vaccines are not effective against all strains of JEV. To date, there are no drugs approved for clinical use, and the development of anti-JEV drugs is urgently needed. Natural products are characterized by a wide range of sources, unique structures, and low prices, and this paper provides an overview of the research and development of anti-JEV bioactive natural products.
Chromosome-level genome assemblies of two littorinid marine snails indicate genetic basis of intertidal adaptation and ancient karyotype evolved from bilaterian ancestors
Authors: Wang Yan-Shu , Li Meng-Yu , Li Yu-Long , Li Yu-Qiang , Xue Dong-Xiu , Liu Jin-Xian
Published: September 2024

Living in the intertidal environment, littorinid snails are excellent models for understanding genetic mechanisms underlying adaptation to harsh fluctuating environments. Furthermore, the karyotypes of littorinid snails, with the same chromosome number as the presumed bilaterian ancestor, make them valuable for investigating karyotype evolution from the bilaterian ancestor to mollusks. Here, we generated high-quality, chromosome-scale genome assemblies for 2 littorinid marine snails, Littorina brevicula (927.94 Mb) and Littoraria sinensis (882.51 Mb), with contig N50 of 3.43 Mb and 2.31 Mb, respectively. Comparative genomic analyses identified 92 expanded gene families and 85 positively selected genes as potential candidates possibly associated with intertidal adaptation in the littorinid lineage, which were functionally enriched in stimulus responses, innate immunity, and apoptosis process regulation and might be involved in cellular homeostasis maintenance in stressful intertidal environments. Genome macrosynteny analyses indicated that 4 fissions and 4 fusions led to the evolution from the 17 presumed bilaterian ancestral chromosomes to the 17 littorinid chromosomes, implying that the littorinid snails have a highly conserved karyotype with the bilaterian ancestor. Based on the most parsimonious reconstruction of the common ancestral karyotype of scallops and littorinid snails, 3 chromosomal fissions and 1 chromosomal fusion from the bilaterian ancient linkage groups were shared by the bivalve scallop and gastropoda littorinid snails, indicating that the chromosome-scale ancient gene linkages were generally preserved in the mollusk genomes for over 500 million years. The highly conserved karyotype makes the littorinid snail genomes valuable resources for understanding early bilaterian evolution and biology.
Pediatric Inflammatory Bowel Disease Type Unclassified: A Nationwide Cohort Study in Scotland With up to 20 Years Follow-up Shows Reclassification in the Majority and Mild Course in Those Whose Diagnosis Is Unchanged
Authors: Wands David I F , Gianolio Laura , Cameron Fiona , Hansen Richard , Russell Richard K , Wilson David C
Published: September 2024

Background

Given the paucity of long-term longitudinal data for inflammatory bowel disease type unclassified (IBDU), we aimed to clarify IBDU disease course and reclassification rate by presenting nationwide data with up to 20 years of follow-up.

Methods

We analyzed a prospectively identified 11-year cohort of pediatric patients diagnosed with IBDU between January 1, 2003 and December 31, 2013 at all Scottish pediatric IBD centers and followed up into adult services until December 31, 2022. Data were obtained from electronic medical records at fixed timepoints (5 and 10 years post-diagnosis) and at the final follow-up.

Results

Overall, 102 patients were included in the analysis (57/102 [56%] male, median [interquartile range {IQR}] age at diagnosis: 11.5 [9.1-13.2] years) with a median (IQR) follow-up length of 10.5 (8.6-14.0) years. A change of diagnosis was made in 61 of 102 patients (60%); of these, 30 patients (29%) were reclassified to Crohn’s disease (CD) and 31 patients (30%) to ulcerative colitis (UC). Patients who remained with IBDU had higher 1- to 5-year remission rates (IBDU 30/39 [77%] vs reclassified 16/57 [28%], P < .05), with lower rates of moderate-to-severe disease (IBDU 3/39 [8%] vs reclassified 31/57 [54%], P < .05) and less need for biologics across all timepoints (IBDU vs reclassified: first timepoint 1/39 [3%] vs 17/57 [30%], second timepoint 1/33 [3%] vs 26/56 [46%], third timepoint 0/18 [0%] vs 16/33 [49%]; all P < .05). Higher rates of surgical resections were observed in reclassified patients (reclassified 11/61 [18%] vs IBDU 1/41 [2%], P = .02).

Conclusions

In our nationwide pediatric IBDU cohort, 60% of patients were reclassified to either UC or CD over 10.5 years of median follow-up; those who remained with IBDU had a milder disease course.
Healthcare Utilization and Geographic Distribution of Advanced Therapy in Minority Race and Ethnic Groups With Inflammatory Bowel Disease
Authors: Hussain Fatima S , Potlach Tomas , Chi Xiaofei , Gurka Matthew J , Hall Jaclyn , Setya Aniruddh , Chaudhry Naueen A , Pham Angela , Damas Oriana M , Kerman David , Abreu Maria T , Zimmermann Ellen M
Published: September 2024

Background and Aims

Biases in healthcare pose challenges for inflammatory bowel disease (IBD) patients from underrepresented races and ethnicities. Our study aimed to assess the quality of and access to care among underrepresented racial and ethnic populations using a diverse database.

Methods

We used the OneFlorida Data Trust, representing over half of Florida’s population. We performed a retrospective study from 2012 to 2020. Advanced IBD therapies included a prescription of at least 1 biologic agent or tofacitinib. Disease activity markers included C-reactive protein (CRP), hemoglobin (Hgb), albumin, and white blood cell (WBC). Regression analyses compared the rates of medication use, healthcare utilization, and disease severity by race and ethnicity. Geographic distribution of advanced IBD therapy was analyzed at the county level.

Results

Our study included 10 578 patients. Hispanic patients utilized more biologics than non-Hispanic White (NHW) patients (odds ratio [OR]: 1.3, P < .0001). Non-Hispanic Black patients utilized more steroids than NHW (OR: 1.2, P = .0004). Hispanics had fewer visits to emergency departments (EDs) and fewer admissions compared with NHW (OR: 0.7 and 0.6, respectively; P < .0001). Non-Hispanic Black patients visited ED more frequently than NHW patients (OR: 1.3, P < .0001). Hispanics had lower disease activity markers than NHW based on CRP (OR: 0.5, P = .005), Hgb (OR: 0.4, P < .0001), albumin (OR: 0.7, P < .0001), and WBC (OR: 0.5, P < .0001). Geographic distribution of advanced IBD therapy showed clustered areas in southern and northern Florida.

Conclusions

Our data show an improved access to care pattern in Hispanic patients. However, disparities still exist, and this is evident in the healthcare utilization trends observed among non-Hispanic Black patients.
Metabotropic Glutamate Receptor 5 as a Potential Biomarker of the Intersection of Trauma and Cannabis Use
Authors: Weiss Emily R , Davis Margaret T , Asch Ruth H , D’Souza Deepak Cyril , Cool Ryan , Esterlis Irina
Published: September 2024

Background

Metabotropic glutamate receptor 5 (mGlu5) dysregulation has been implicated in the pathophysiology of trauma-related psychopathology, and there are direct interactions between the endocannabinoid and glutamatergic systems. However, relationships between cannabis use (CU) and mGlu5 have not been directly investigated in trauma-related psychopathology.

Methods

Using positron emission tomography with [18F]FPEB, we examined relationships between CU status and mGlu5 availability in vivo in a cross-diagnostic sample of individuals with trauma-related psychopathology (n = 55). Specifically, we tested whether mGlu5 availability in frontolimbic regions of interest (ROIs; dorsolateral prefrontal cortex, orbitofrontal cortex, ventromedial prefrontal cortex, amygdala, hippocampus) differed as a function of CU status.

Results

Past-year CU (n = 22) was associated with 18.62%–19.12% higher mGlu5 availability in frontal and 14.24%–16.55% higher mGlu5 in limbic ROIs relative to participants with no recent CU. Similarly, past-month or monthly CU (n = 16) was associated with higher mGlu5 availability in frontal (18.05%–20.62%) and limbic (15.53%–16.83%) ROIs. mGlu5 availability in the orbitofrontal cortex and amygdala was negatively associated with depressive symptoms in the past-year CU group. In both CU groups, exploratory analyses showed negative correlations between mGlu5 availability and sadness across all ROIs and with perceptions of worthlessness and past failures (r’s = −.47 to .66, P’s = .006–.033) in the ventromedial prefrontal cortex. Participants with CU reported lower mean depressive symptoms (P’s = .006–.037) relative to those without CU.

Conclusions

These findings have substantial implications for our understanding of interactions between CU and glutamatergic neurotransmission in trauma-related psychopathology, underscoring the need for treatment development efforts to consider the effects of CU in this population.
Population Pharmacokinetic Modeling of Cefepime, Meropenem, and Piperacillin-Tazobactam in Patients With Cystic Fibrosis
Authors: Rolsma Stephanie L , Sokolow Andrew , Patel Pratish C , Sokolow Katherine , Jimenez-Truque Natalia , Fissell William H , Ryan Vivian , Kirkpatrick Carl M , Nation Roger L , Gu Kenan , Teresi Mary , Fishbane Nicholas , Kontos Marissa , An Guohua , Winokur Patricia , Landersdorfer Cornelia B , Creech C Buddy
Published: September 2024

Background

Patients with cystic fibrosis (CF) experience recurrent bacterial pulmonary exacerbations. Management of these infections is increasingly challenging due to decreased antimicrobial susceptibility to β-lactam antibiotics. The pharmacokinetics (PK) of these agents are inadequately characterized in patients with CF.

Methods

This study enrolled 155 pediatric and adult participants with CF who were receiving the following β-lactam antibiotics: cefepime (n = 82), meropenem (n = 42), or piperacillin-tazobactam (n = 31). Opportunistic blood samples were obtained during hospitalization. Population PK analysis was conducted via nonlinear mixed effects modeling. Clinical and demographic characteristics were evaluated as potential covariates. Monte Carlo simulations were performed to evaluate the probability of target attainment (PTA) for different dosing regimens.

Results

Estimated creatinine clearance and total or lean body weight affected the PK of cefepime and meropenem. No covariates were identified for piperacillin and tazobactam. In the cefepime group, a 3-hour infusion achieved a higher PTA than a 0.5-hour infusion for all participants. Estimated breakpoints—the respective minimum inhibitory concentration up to which ≥90% of patients are predicted to reach a PK/pharmacodynamic target—were 2- to 4-fold higher in pediatric participants receiving a 3- vs 0.5-hour infusion. In the meropenem group, increased creatinine clearance led to reduced PTA. In the piperacillin-tazobactam group, total daily dose and mode of administration were principal drivers of PTA.

Conclusions

Standard dosing regimens fail to achieve specific minimum inhibitory concentration targets in patients with CF. Therefore, clinicians should incorporate local antibiograms and PK models to determine optimal dosing. Further PK optimization to account for interindividual differences could be achieved by real-time β-lactam therapeutic drug monitoring.
Using integrative taxonomy to delimit species in the plant bug genus Pseudoloxops (Hemiptera: Miridae) in French Polynesia
Authors: Balukjian Brad , Van Dam Matthew H
Published: September 2024

We use integrative taxonomy to elucidate species boundaries of the plant bug genus Pseudoloxops (Kirkaldy 1905) in the Austral and Society archipelagos of French Polynesia. We operationalize the unified species concept by treating each individual as a potential species and then establish initial groupings (putative species) following statistically highly-supported reciprocal monophyly of individuals in a phylogenetic analysis of CO1, 16S, and 28S gene fragments. We then test our species hypotheses against additional lines of evidence from geometric morphometrics, genetic distance, discrete genitalic morphology, plant association, and geographic distribution partitions. Twenty species endemic to French Polynesia are recognized as follows: Pseudoloxops aama Balukjian & Van Dam, sp. nov., Pseudoloxops anaana Balukjian & Van Dam, sp. nov., Pseudoloxops baileyi Balukjian & Van Dam, sp. nov., Pseudoloxops chastaoliancai Balukjian & Van Dam, sp. nov., Pseudoloxops harrisonfordi Balukjian & Van Dam, sp. nov., Pseudoloxops kamalaharrisae Balukjian & Van Dam, sp. nov., Pseudoloxops oboyskii Balukjian & Van Dam, sp. nov., Pseudoloxops papepihaa Balukjian & Van Dam, sp. nov., Pseudoloxops puarata Balukjian & Van Dam, sp. nov., Pseudoloxops raimana Balukjian & Van Dam, sp. nov., Pseudoloxops ravataputuarai Balukjian & Van Dam, sp. nov., Pseudoloxops simberloffi Balukjian & Van Dam, sp. nov., Pseudoloxops tairoto Balukjian & Van Dam, sp. nov., Pseudoloxops temehanirahi Balukjian & Van Dam, sp. nov., Pseudoloxops tiapai Balukjian & Van Dam, sp. nov., Pseudoloxops toparaamahana Balukjian & Van Dam, sp. nov., Pseudoloxops tupapaau Balukjian & Van Dam, sp. nov. New synonyms are proposed for Pseudoloxops flavus (Knight, 1937) [=Pseudoloxops rubrocuneatus (Knight, 1937)] and Pseudoloxops adamsoni (Knight, 1937) [= Pseudoloxops nigribasicornis (Knight, 1937) and = Pseudoloxops tahiticus (Knight, 1937)]. Pseudoloxops rubroclavus (Knight, 1937) is redescribed.
The 129 strain-derived passenger mutations in ACKR1-deficient mice alter the expression of PYHIN and Fc-gamma receptor genes
Authors: Möller-Ramon Zoe , Aslani Maria , Sobczak Nikola , Hristov Michael , Weber Christian , Rot Antal , Duchêne Johan
Published: September 2024

Most genetically modified mice have been produced using 129 strain-derived embryonic stem cells. Despite ample backcrosses with other strains, these may retain characteristics for 129 passenger mutations, leading to confounding phenotypes unrelated to targeted genes. Here we show that widely used Ackr1−/−129ES mice have approximately 6 Mb of the 129-derived genome retained adjacently to the Ackr1 locus on chromosome 1, including several characteristic polymorphisms. These most notably affect the expression of PYHIN and Fc-gamma receptor genes in myeloid cells, resulting in the overproduction of IL-1β by activated macrophages and the loss of Fc-gamma receptors on myeloid progenitor cells. Therefore, caution is warranted when interpreting Ackr1−/−129ES mouse phenotypes as being solely due to the ACKR1 deficiency. Our findings call for a careful reevaluation of data from previous studies using Ackr1−/−129ES mice and underscore the limitations and pitfalls inherent to mouse models produced using traditional genetic engineering techniques involving 129 embryonic stem cells.
Limited proteolysis of neutrophil granule proteins by the bacterial protease RgpB depletes neutrophil antimicrobial capacity
Authors: Cooper Kelley N , Wielento Aleksandra , Morris Savannah C , Terekhova Marina , Rodriguez-Hernandez Carlos J , Potempa Barbara , Carey Katherine A , Artyomov Maxim N , Potempa Jan , Bagaitkar Juhi
Published: September 2024

Neutrophils are highly abundant in the gingival tissues where they play an essential role in immune homeostasis by preventing microbial invasion. Here, we show that the oral periodontal pathogen Porphyromonas gingivalis utilizes its cysteine proteases (gingipains) to disengage phagosomal antimicrobial capacity. Arginine gingipains are a subfamily of trypsin-like proteases produced by P. gingivalis that cleave several host proteins at arginine residues. We find that RgpB-mediated proteolysis of host proteins is not limited to the extracellular or plasma membrane-associated host proteins, but also results in the degradation of several intracellular proteins. Using 2D-difference gel electrophoresis coupled with mass spectrometry, we identified several cytoskeletal and cytoplasmic proteins, including metabolic enzymes and antimicrobial proteins such as neutrophil elastase, myeloperoxidase, and proteinase 3 within neutrophil granules that were cleaved by RgpB. Strikingly, despite the breakdown of multiple proteins, RgpB-treated neutrophils did not undergo apoptosis but increased integrin expression and underwent broad transcriptional changes consistent with proinflammatory programming. However, despite their primed status and augmented inflammatory capacity, RgpB-treated neutrophils were conducive to intracellular bacterial survival due to the reduced activity of granule proteins and oxidative burst. Thus, our data show a previously unknown role for P. gingivalis proteases in the attenuation of neutrophil microbicidal capacity via proteolysis of intracellular proteins.
Characterization of colistin-resistant carbapenemase producing Klebsiella pneumoniae in a river receiving wastewater treatment plant effluent
Authors: Swain Pragyan Paramita , Sahoo Saubhagini , Behera Birasen , Behera Dibyajyoti Uttameswar , Subudhi Enketeswara , Sahoo Rajesh Kumar
Published: September 2024

Genes conferring antibiotic resistance phenotype, particularly to last resort antibiotics, pose a significant concern globally. Wastewater treatment plant (WWTP) effluent substantially contributes to antibiotic resistance in receiving rivers, threatening human health. Globally, colistin- and carbapenem-resistant Klebsiella pneumoniae infections cause high morbidity and mortality. We investigated colistin-resistant carbapenemase-producing K. pneumoniae (Co-CRKP) isolates in Kathajodi river receiving WWTP effluent, their resistance genes, and pathogenic potential. Four isolates (Co-CRKP-7, Co-CRKP-8, Co-CRKP-10, and Co-CRKP-15) exhibited extensively drug-resistant (XDR) phenotype, harbouring blaTEM-1, blaCTX-M-15, blaNDM-5, and blaOXA-48 genes. Colistin resistance was attributed to mutations in the pmrA and pmrB genes. Virulence genes (fimH, mrkD, entB, iucA, iutA, and irp1), capsular serotypes (K1, K2) and biofilm formation in the isolates explicated their pathogenicity. Furthermore, Inc plasmid replicons (Y, FrepB, P, K/B, L/M, N, FIA, A/C, and FIB) indicated the dissemination potential of the resistance genes in Co-CRKP isolates. The multi-locus sequence typing showed that Co-CRKP-7 and Co-CRKP-8 belonged to ST42, while Co-CRKP-10 and Co-CRKP-15 were ST16 and ST231, respectively. These high-risk clones carrying multidrug resistance and virulence genes, implicated in numerous outbreaks, have spread worldwide. Our findings emphasize the necessity for effective treatment of hospital wastes to restrict the spread of clinical isolates into aquatic environments.
Improving the medium composition for the production of the natural blue-violet pigment violacein by a new Janthinobacterium sp. isolate
Authors: Ishimoto Caroline Kie , Lima Junior Rodolfo Dantas , Scaramussa Simone Aparecida de Lima , Fill Taicia Pacheco , Oliveira Valéria Maia , Bicas Juliano Lemos
Published: September 2024

The interest in natural compounds has increased primarily due to their beneficial health and environmental aspects. However, natural sources of some compounds, such as bluish pigments, are limited, requiring the development of efficient processes to meet commercial demands. This study isolated a blue-violet bacterium from spoiled cooked rice and identified it as a potential new species of Janthinobacterium through 16S rDNA analysis. Ultra-high performance liquid chromatography–tandem mass spectrometry analyses confirmed that the blue-violet pigment violacein was responsible for the bluish color. In laboratory conditions, different carbon and nitrogen sources were evaluated in submerged culture media to enhance pigment production. Glycerol did not result in significant pigment production by this strain, as expected from previous reports. Instead, a culture medium composed of yeast extract and fructose yielded higher pigment production, reaching about 113.68 ± 16.68 mg l−1 after 120 h. This result provides crucial insights for future studies aiming for sustainable and commercially viable violacein production. Based on a bioeconomy concept, this approach has the potential to supply natural and economic bluish pigments for various industrial sectors, including pharmaceutical, cosmetic, and food.
Trisomy 21
Authors: Clark Robin D. , Curry Cynthia J.
Published: September 2024

This chapter reviews the incidence, recurrence risk, etiology, and chromosomal nature of Down syndrome(DS) or trisomy 21. Prenatal screening methodologies are outlined including serum screening, nuchal translucency measurements and cell free DNA. The common US findings in DS including “soft” signs are reviewed. The neonatal findings are enumerated. Clinically somewhat similar chromosomal and syndromic conditions are listed. Testing strategies are outlined. Counseling of parents should emphasize the positive aspects of these infants and children as well as the advances in management of infectious disease and cardiac defects in these children. Referrals for infant development programs and support groups are emphasized as are surveillance recommendations.
Turner Syndrome
Authors: Clark Robin D. , Curry Cynthia J.
Published: September 2024

This chapter reviews background information about the incidence, etiology, prenatal diagnosis and chromosomal nature of Turner syndrome, or monosomy X, and its variants. Details of the common presenting signs during infancy including small size, distal lymphedema, neck webbing, prominent ears and cardiovascular defects are listed. Later manifestations of Turner syndrome are included for counseling purposes. Various chromosome anomalies, other than monosomy X, that have been reported in Turner syndrome, including X chromosome deletions, isochromosomes, rings, X-autosome translocations and mosaicism for variant X and Y chromosomes, are described and cytogenetic testing strategies are offered. The differential diagnosis of cystic hygroma and hydrops fetalis are discussed. Recommendations for evaluation and management are provided.
Wolf–Hirschhorn Syndrome
Authors: Clark Robin D. , Curry Cynthia J.
Published: September 2024

This chapter reviews background information about the incidence, sex ratio, prenatal diagnosis, etiology, and chromosomal nature of Wolf–Hirschhorn syndrome (WHS) or chromosome 4p minus syndrome. The two critical regions within the deleted segment that are responsible for the WHS phenotype are discussed. The common finding of an unbalanced familial translocation as the cause of WHS in also half of patient is presented as is the recommendation to perform chromosome analysis on parents of an affected child. The classic phenotype during infancy, diagnosis, genetic testing, and prognosis of Wolf–Hirschhorn syndrome are also reviewed. Late onset manifestations are listed to assist with family counseling. Recommendations for evaluation and management are provided.
Chromosome 22q11.2 Deletion Syndrome
Authors: Clark Robin D. , Curry Cynthia J.
Published: September 2024

This chapter discusses the incidence and etiology of chromosome 22q11.2 deletion syndrome. This is the preferred term rather than DiGeorge or Velocardiofacial syndrome. Presenting findings are highly variable including conotruncal heart defects, cleft palate, hypocalcemia and immunodeficiency. The craniofacial findings are subtle. About 10 % of these deletions are inherited. Almost all children have velopharyngeal insufficiency and will require intensive speech therapy and possible surgery. Developmental delay is variable but the frequency of psychiatric disorders including OCD and schizophrenia in older children is a major concern. Recommendations for testing children and their parents are included as are links to online support and resources.
Cornelia de Lange Syndrome
Authors: Clark Robin D. , Curry Cynthia J.
Published: September 2024

This chapter reviews background information about the incidence genetics, recurrence risk, etiology, prenatal diagnosis and variable phenotype of Cornelia de Lange syndrome, caused by dysfunction of various components of the cohesin ring that holds siter chromatids together during mitotic cell division. The clinical presentation during infancy includes small size, microcephaly, hypertrichosis and synophrys, a recognizable pattern of facial characteristics including arched eyebrows, ptosis, a thin down turned prominent upper lip and a long philtrum, cleft palate and upper limb deficits, usually affecting the ulnar ray. The differential diagnosis, and prognosis of Cornelia de Lange syndrome are also reviewed. Recommendations for testing, evaluation, and management are provided.
VATER / VACTERL Association
Authors: Clark Robin D. , Curry Cynthia J.
Published: September 2024

This chapter reviews background information about the incidence risk factors, and etiology of VATER/VACTERL association, a sporadic disorder. The name is an acronym of the features that define the phenotype: vertebral defects, anal atresia, tracheo-esophageal fistula, and radial or renal defects. The clinical diagnosis is one of exclusion and the differential diagnosis is presented with an emphasis on chromosome anomalies (22q11 deletion), teratogenic exposures (diabetic embryopathy, valproic acid) and single gene disorders (Fanconi anemia, Townes Brocks syndrome). When other diagnoses have been excluded, the prognosis for normal growth and development is good. Recommendations for evaluation and management, including genetic testing, are provided.
The Alphabet Soup of Microscopy: An Introduction to Advanced Imaging Techniques. Part II: What the FLIP, FLAP, FRAP, FRET, and FLIM is Going On?
Authors: Worden Austin N
Published: September 2024

The use of fluorescence in imaging has been a pivotal factor in advancing our scientific understanding. As microscopy continues to evolve, the terminology used to describe these techniques becomes increasingly complex, often resulting in a bewildering array of acronyms that resemble alphabet soup. Among the most prominent acronyms are those associated with advanced fluorescence microscopy techniques: Fluorescence Loss in Photobleaching (FLIP), Fluorescence Localization after Photobleaching (FLAP), Fluorescence Recovery after Photobleaching (FRAP), Förster Resonance Energy Transfer (FRET), and Fluorescence Lifetime Imaging Microscopy (FLIM). Each of these methods provides invaluable insights into molecular dynamics and interactions within living cells and tissues. This article, Part 2 of the Alphabet Soup of Microscopy series, aims to clarify these widely used fluorescence microscopy techniques and to illuminate their contributions to our understanding of cellular processes.
The DESI Early Data Release white dwarf catalogue
Authors: Manser Christopher J , Izquierdo Paula , Gänsicke Boris T , Swan Andrew , Koester Detlev , Robert Akshay , Xu Siyi , Inight Keith , Amroota Ben , Fusillo N P Gentile , Koposov Sergey E , Kim Bokyoung , Dey Arjun , Prieto Carlos Allende , Aguilar J , Ahlen S , Blum R , Brooks D , Claybaugh T , Cooper A P , Dawson K , de la Macorra A , Doel P , Forero-Romero J E , Gaztañaga E , Gontcho S Gontcho A , Honscheid K , Kisner T , Kremin A , Lambert A , Landriau M , Le Guillou L , Levi Michael E , Li T S , Meisner A , Miquel R , Moustakas J , Nie J , Palanque-Delabrouille N , Percival W J , Poppett C , Prada F , Rezaie M , Rossi G , Sanchez E , Schlafly E F , Schlegel D , Schubnell M , Seo H , Silber J , Tarlé G , Weaver B A , Zhou Z , Zou H
Published: September 2024

The Early Data Release (EDR) of the Dark Energy Spectroscopic Instrument (DESI) comprises spectroscopy obtained from 2020 December 14 to 2021 June 10. White dwarfs were targeted by DESI both as calibration sources and as science targets and were selected based on Gaia photometry and astrometry. Here, we present the DESI EDR white dwarf catalogue, which includes 2706 spectroscopically confirmed white dwarfs of which approximately 60 per cent have been spectroscopically observed for the first time, as well as 66 white dwarf binary systems. We provide spectral classifications for all white dwarfs, and discuss their distribution within the Gaia Hertzsprung–Russell diagram. We provide atmospheric parameters derived from spectroscopic and photometric fits for white dwarfs with pure hydrogen or helium photospheres, a mixture of those two, and white dwarfs displaying carbon features in their spectra. We also discuss the less abundant systems in the sample, such as those with magnetic fields, and cataclysmic variables. The DESI EDR white dwarf sample is significantly less biased than the sample observed by the Sloan Digital Sky Survey, which is skewed to bluer and therefore hotter white dwarfs, making DESI more complete and suitable for performing statistical studies of white dwarfs.
The gravitational lensing imprints of DES Y3 superstructures on the CMB: a matched filtering approach
Authors: Demirbozan U , Nadathur S , Ferrero I , Fosalba P , Kovács A , Miquel R , Davies C T , Pandey S , Adamow M , Bechtol K , Drlica-Wagner A , Gruendl R A , Hartley W G , Pieres A , Ross A J , Rykoff E S , Sheldon E , Yanny B , Abbott T M C , Aguena M , Allam S , Alves O , Bacon D , Bertin E , Bocquet S , Brooks D , Rosell A Carnero , Carretero J , Cawthon R , da Costa L N , Pereira M E S , De Vicente J , Desai S , Doel P , Everett S , Flaugher B , Friedel D , Frieman J , Gatti M , Gaztanaga E , Giannini G , Gutierrez G , Hinton S R , Hollowood D L , James D J , Jeffrey N , Kuehn K , Lahav O , Lee S , Marshall J L , Mena-Fernández J , Mohr J J , Myles J , Ogando R L C , Malagón A A Plazas , Roodman A , Sanchez E , Sevilla-Noarbe I , Smith M , Soares-Santos M , Suchyta E , Swanson M E C , Tarle G , Weaverdyck N , Weller J , Wiseman P
Published: September 2024

Low-density cosmic voids gravitationally lens the cosmic microwave background (CMB), leaving a negative imprint on the CMB convergence $\kappa$. This effect provides insight into the distribution of matter within voids, and can also be used to study the growth of structure. We measure this lensing imprint by cross-correlating the Planck CMB lensing convergence map with voids identified in the Dark Energy Survey Year 3 (DES Y3) data set, covering approximately 4200 deg$^2$ of the sky. We use two distinct void-finding algorithms: a 2D void-finder that operates on the projected galaxy density field in thin redshift shells, and a new code, Voxel, which operates on the full 3D map of galaxy positions. We employ an optimal matched filtering method for cross-correlation, using the Marenostrum Institut de Ciències de l’Espai N-body simulation both to establish the template for the matched filter and to calibrate detection significances. Using the DES Y3 photometric luminous red galaxy sample, we measure $A_\kappa$, the amplitude of the observed lensing signal relative to the simulation template, obtaining $A_\kappa = 1.03 \pm 0.22$ ($4.6\sigma$ significance) for Voxel and $A_\kappa = 1.02 \pm 0.17$ ($5.9\sigma$ significance) for 2D voids, both consistent with Lambda cold dark matter expectations. We additionally invert the 2D void-finding process to identify superclusters in the projected density field, for which we measure $A_\kappa = 0.87 \pm 0.15$ ($5.9\sigma$ significance). The leading source of noise in our measurements is Planck noise, implying that data from the Atacama Cosmology Telescope, South Pole Telescope and CMB-S4 will increase sensitivity and allow for more precise measurements.
Contribution of astrophysical events to the chemical evolution of a dwarf irregular galaxy
Authors: Fukagawa Nao , Prantzos Nikos
Published: September 2024

We study the contribution of various astrophysical events asymptotic giant branch (AGB stars, core collapse and thermonuclear supernovae, neutron star mergers, and collapsars) to the abundances of elements both up to and heavier than the iron peak in a Local Group dwarf irregular galaxy, Wolf–Lundmark–Melotte (WLM). Its star formation history has been recently determined by observations with the JWST, and we use it to estimate the occurrence of the astrophysical sources. The rates of the gas accretion and the outflow are roughly determined based on the stellar metallicity distribution, the oxygen abundance of H ii regions, and the gas fraction. As discussed in the literature, the difference in time-scales on which the astrophysical events release the nucleosynthesis products is seen in the occurrence of the events and the evolution of abundance ratios. WLM has an extended star formation history and massive stars are recently and currently formed. Thus, the contribution of rotating massive stars through the weak s-process appears in the abundance ratios of light trans-iron elements to iron at later time of the evolution.
Detailed analysis of local climate at the CTAO-North site on La Palma from 20 yr of MAGIC weather station data
Authors: Gaug Markus , Longo Alessandro , Bianchi Stefano , Font Lluís , Almirante Sofia , Kornmayer Harald , Doro Michele , Hahn Alexander , Blanch Oscar , Plastino Wolfango , Dorner Daniela
Published: September 2024

The Observatorio del Roque de los Muchachos will host the northern site of the Cherenkov Telescope Array Observatory (CTAO), in an area about 200 m below the mountain rim, where the optical telescopes are located. The site currently hosts the MAGIC (Major Atmospheric Gamma-ray Imaging Cherenkov) telescopes, which have gathered a unique series of 20 yr of weather data. We use advanced profile-likelihood methods to determine seasonal cycles, the occurrence of weather extremes, weather downtime, and long-term trends correctly taking into account data gaps. The fractality of the weather data is investigated by means of multifractal detrended fluctuation analysis. The data are published according to the Findable, Accessible, Interoperable, and Reusable (FAIR) principles. We find that the behaviour of wind and relative humidity show significant differences compared to the mountain rim. We observe an increase in temperature of $0.55\pm 0.07\mathrm{(stat.)}\pm 0.07\mathrm{(syst.)}$$^{\circ }$C decade−1, the diurnal temperature range of $0.13\pm 0.04\mathrm{(stat.)}\pm 0.02\mathrm{(syst.)}$$^{\circ }$C decade−1 (accompanied by an increase of seasonal oscillation amplitude of $\Delta C_m=0.29\pm 0.10\mathrm{(stat.)}\pm 0.04\mathrm{(syst.)}$$^{\circ }$C decade−1), and relative humidity of $4.0\pm 0.4\mathrm{(stat.)}\pm 1.1\mathrm{(syst.)}$ per cent decade−1, and a decrease in trade wind speeds of $0.85\pm 0.12\mathrm{(stat.)}\pm 0.07\mathrm{(syst.)}$ (km h−1) decade−1. The occurrence of extreme weather, such as tropical storms and long rains, remains constant over time. We find a significant correlation of temperature with the North Atlantic Oscillation Index and multifractal behaviour of the data. The site shows a weather-related downtime of 18.5 per cent–20.5 per cent, depending on the wind gust limits employed. No hints are found of a degradation of weather downtime under the assumption of a linear evolution of environmental parameters over time.