bluuebunny/crossref_metadata_2025_split huggingface dataset:
Reef complexity influences distribution and habitat choice of the corallivorous seastar Culcita schmideliana in the Maldives
Authors: Montalbetti Enrico , Fallati Luca , Casartelli Marco , Maggioni Davide , Montano Simone , Galli Paolo , Seveso Davide 
Published: February 2022

AbstractThe cushion seastar Culcita schmideliana has gained major attention in the last few years because of its selective predation on juvenile corals, as well as its ability to generate large demographic assemblages, causing delays in coral recovery after large mortality events in the Republic of Maldives. However, a lack of data regarding the factors affecting its distribution and habitat selection still persists in this area. Here, we adopted a novel approach in the study of corallivorous seastar habitat selection that combined ecological and digital photogrammetry data. In this regard, we tested 3 different parameters as factors influencing seastar habitat choice in the South-East region of Faafu Atoll, Republic of Maldives, namely prey abundance, Linear Rugosity Index (LRI), and Average Slope (AS). The analysis of selectivity coefficient (Ei) of seastars for different habitat types showed a preference for reefs characterized by medium AS values (Ei = 0.268), a LRI included between 2 and 2.5 (Ei = 0.180), and a juvenile coral density ranging between 10 and 20 colonies m−2 (Ei = 0.154). A multiple linear regression analysis showed that different AS and LRI values explained the 43.1% (R2 = 0.431, P = 0.007) and the 48.1% (R2 = 0.481, P = 0.024) of variance in seastars abundance, respectively, while juvenile coral densities did not significantly affect this (R2 = 0.132, P = 0.202). These results provide new information on the distribution and behaviour of an important corallivore of Maldivian reefs, such as C. schmideliana.
Correlation between olfactory function, age, sex, and cognitive reserve index in the Italian population
Authors: Masala Carla , Cavazzana Annachiara , Sanna Fabrizio , Cecchini Maria Paola , Zanini Alice , Gasperi Flavia , Menghi Leonardo , Endrizzi Isabella , Borgogno Monica , Drago Serena , Cantone Elena , Ciofalo Andrea , Macchi Alberto , Monti Giulia , Parma Valentina , Piochi Maria , Pinna Ilenia , Torri Luisa , Cabrino Giorgia , Ottaviano Giancarlo , Pendolino Alfonso Luca , Pignatelli Angela , Pighin Faride , Bochicchio Vincenzo , Motta Gaetano , Fontana Giorgia , Pasquariello Benedetta , Cavaliere Carlo , Iacono Valentina , Hummel Thomas 
Published: February 2022

AbstractPurposeLoss of smell decreases the quality of life and contributes to the failure in recognizing hazardous substances. Given the relevance of olfaction in daily life, it is important to recognize an undiagnosed olfactory dysfunction to prevent these possible complications. Up to now, the prevalence of smell disorders in Italy is unknown due to a lack of epidemiological studies. Hence, the primary aim of this study was to evaluate the prevalence of olfactory dysfunction in a sample of Italian adults.MethodsSix hundred and thirty-three participants (347 woman and 286 men; mean age 44.9 years, SD 17.3, age range 18–86) were recruited from 10 distinct Italian regions. Participants were recruited using a convenience sapling and were divided into six different age groups: 18–29 years (N = 157), 30–39 years (N = 129), 40–49 years (N = 99), 50–59 years (N = 106), > 60 years (N = 142). Olfactory function, cognitive abilities, cognitive reserve, and depression were assessed, respectively, with: Sniffin’ Sticks 16-item Odor Identification Test, Montreal Cognitive Assessment, Cognitive Reserve Index, and the Beck Depression Inventory. Additionally, socio-demographic data, medical history, and health-related lifestyle information were collected.ResultsAbout 27% of participants showed an odor identification score < 12 indicating hyposmia. Multiple regression analysis revealed that OI was significantly correlated with age, sex, and cognitive reserve index, and young women with high cognitive reserve index showing the highest olfactory scores.ConclusionThis study provides data on the prevalence of olfactory dysfunction in different Italian regions.
Ventrolateral periaqueductal gray matter integrative system of defense and antinociception
Authors: de Mello Rosa Gustavo Henrique , Ullah Farhad , de Paiva Yara Bezerra , da Silva Juliana Almeida , Branco Luiz Guilherme S. , Corrado Alexandre Pinto , Medeiros Priscila , Coimbra Norberto Cysne , Franceschi Biagioni Audrey 
Published: February 2022

AbstractDefensive responses are neurophysiological processes crucial for survival during threatening situations. Defensive immobility is a common adaptive response, in rodents, elaborated by ventrolateral periaqueductal gray matter (vlPAG) when threat is unavoidable. It is associated with somatosensory and autonomic reactions such as alteration in the sensation of pain and rate of respiration. In this study, defensive immobility was assessed by chemical stimulation of vlPAG with different doses of NMDA (0.1, 0.3, and 0.6 nmol). After elicitation of defensive immobility, antinociceptive and respiratory response tests were also performed. Results revealed that defensive immobility was followed by a decrease in the nociceptive perception. Furthermore, the lowest dose of NMDA induced antinociceptive response without eliciting defensive immobility. During defensive immobility, respiratory responses were also disturbed. Interestingly, respiratory rate was increased and interspersed with prolonged expiratory phase of breathing. These findings suggest that vlPAG integrates three different defensive behavioral responses, contributing to the most effective defensive strategies during threatening situations.
WT1 complete gonadal dysgenesis with membranoproliferative glomerulonephritis: case series and literature review
Authors: Anderson Erin , Aldridge Melanie , Turner Ross , Harraway James , McManus Sam , Stewart Anna , Borzi Peter , Trnka Peter , Burke John , Coman David 
Published: February 2022

Abstract
Background
Intronic WT1 mutations are usually causative of Frasier syndrome with focal segmental glomerulosclerosis as the characteristic nephropathy. Membranoproliferative glomerulonephritis is not commonly associated with disorders of sex development but has been recently identified as a WT1-associated nephropathy, but usually in cases of exonic mutations in either isolated Wilms tumor or Denys-Drash syndrome.

Methods
The clinical and genetic data from 3 individuals are reported.

Results
This report describes the kidney manifestations in 3 individuals from 2 unrelated families with Frasier syndrome intronic WT1 mutations, noting that 2 of the 3 individuals have histologically confirmed membranoproliferative glomerulonephritis.

Conclusions
These case reports support expansion of the clinical spectrum of the kidney phenotypes associated with Frasier syndrome providing evidence of an association between WT1 mutation and an immune complex-related membranoproliferative glomerulonephritis.

Graphical abstract
A higher resolution version of the Graphical abstract is available as Supplementary information
Exploring the relevance of NUP93 variants in steroid-resistant nephrotic syndrome using next generation sequencing and a fly kidney model
Authors: Bierzynska Agnieszka , Bull Katherine , Miellet Sara , Dean Philip , Neal Chris , Colby Elizabeth , McCarthy Hugh J. , Hegde Shivaram , Sinha Manish D. , Bugarin Diz Carmen , Stirrups Kathleen , Megy Karyn , Mapeta Rutendo , Penkett Chris , Marsh Sarah , Forrester Natalie , Afzal Maryam , Stark Hannah , BioResource NIHR , Williams Maggie , Welsh Gavin I. , Koziell Ania B. , Hartley Paul S. , Saleem Moin A. 
Published: February 2022

Abstract

Background
Variants in genes encoding nuclear pore complex (NPC) proteins are a newly identified cause of paediatric steroid-resistant nephrotic syndrome (SRNS). Recent reports describing NUP93 variants suggest these could be a significant cause of paediatric onset SRNS. We report NUP93 cases in the UK and demonstrate in vivo functional effects of Nup93 depletion in a fly (Drosophila melanogaster) nephrocyte model.

Methods
Three hundred thirty-seven paediatric SRNS patients from the National cohort of patients with Nephrotic Syndrome (NephroS) were whole exome and/or whole genome sequenced. Patients were screened for over 70 genes known to be associated with Nephrotic Syndrome (NS). D. melanogaster Nup93 knockdown was achieved by RNA interference using nephrocyte-restricted drivers.

Results
Six novel homozygous and compound heterozygous NUP93 variants were detected in 3 sporadic and 2 familial paediatric onset SRNS characterised histologically by focal segmental glomerulosclerosis (FSGS) and progressing to kidney failure by 12 months from clinical diagnosis.
Silencing of the two orthologs of human NUP93 expressed in D. melanogaster, Nup93-1, and Nup93-2 resulted in significant signal reduction of up to 82% in adult pericardial nephrocytes with concomitant disruption of NPC protein expression. Additionally, nephrocyte morphology was highly abnormal in Nup93-1 and Nup93-2 silenced flies surviving to adulthood.

Conclusion
We expand the spectrum of NUP93 variants detected in paediatric onset SRNS and demonstrate its incidence within a national cohort. Silencing of either D. melanogaster Nup93 ortholog caused a severe nephrocyte phenotype, signaling an important role for the nucleoporin complex in podocyte biology.

Graphical Abstract
A higher resolution version of the Graphical abstract is available as Supplementary information
Detection of DZIP1L mutations by whole-exome sequencing in consanguineous families with polycystic kidney disease
Authors: Hertz Jens Michael , Svenningsen Per , Dimke Henrik , Engelund Morten Buch , Nørgaard Hanne , Hansen Anita , Marcussen Niels , Thiesson Helle Charlotte , Bergmann Carsten , Larsen Martin J. 
Published: February 2022

Abstract

Background
Autosomal recessive polycystic kidney disease is a cystic kidney disease with early onset and clinically characterized by enlarged echogenic kidneys, hypertension, varying degrees of kidney dysfunction, and liver fibrosis. It is most frequently caused by sequence variants in the PKHD1 gene, encoding fibrocystin. In more rare cases, sequence variants in DZIP1L are seen, encoding the basal body protein DAZ interacting protein 1-like protein (DZIP1L). So far, only four different DZIP1L variants have been reported.

Methods
Four children from three consanguineous families presenting with polycystic kidney disease were selected for targeted or untargeted exome sequencing.

Results
We identified two different, previously not reported homozygous DZIP1L sequence variants: c.193 T > C; p.(Cys65Arg), and c.216C > G; p.(Cys72Trp). Functional analyses of the c.216C > G; p.(Cys72Trp) variant indicated mislocalization of mutant DZIP1L.

Conclusions
In line with published data, our results suggest a critical role of the N-terminal domain for proper protein function. Although patients with PKHD1-associated autosomal recessive polycystic kidney disease often have liver abnormalities, none of the present four patients showed any clinically relevant liver involvement. Our data demonstrate the power and efficiency of next-generation sequencing-based approaches. While DZIP1L-related polycystic kidney disease certainly represents a rare form of the disease, our results emphasize the importance of including DZIP1L in multigene panels and in the data analysis of whole-exome sequencing for cystic kidney diseases.

Graphical abstract
A higher resolution version of the Graphical abstract is available as Supplementary information
Evaluation of the VITEK2 AST-XN17 card for the detection of carbapenemase-producing Enterobacterales in isolates primarily producing metallo β-lactamase
Authors: Kuchibiro Tomokazu , Komatsu Masaru , Yamasaki Katsutoshi , Nakamura Tatsuya , Niki Makoto , Nishio Hisaaki , Kida Kaneyuki , Ohama Masanobu , Nakamura Akihiro , Nishi Isao 
Published: February 2022

AbstractCarbapenemase-producing Enterobacterales (CPE) are not always resistant to carbapenem antimicrobial susceptibility testing (AST) and can be difficult to detect. With the newly created VITEK2 AST-XN17 card, the types of antibiotics measured in AST can be increased. In this study, we evaluated the detectability of CPE using the results of AST with multiple antimicrobial agents with additional measurements of the AST-XN17 card. In addition, we evaluated the CPE detectability of comments on CPE using the VITEK2 Advance Expert System (AES). In total, 169 Enterobacterales samples, including 76 non-CPE and 93 CPE, collected from multiple medical institutions in the Kinki region of Japan, were used in this investigation. AST with VITEK2 was performed by adding the AST-XN17 card in addition to the AST-N268 or AST-N404 card. Measurement results were identified using cutoff values, primarily Clinical and Laboratory Standards Institute breakpoints, and the CPE detection capability of each antibiotic was evaluated in several terms, including sensitivity and specificity. The drugs highly sensitive to CPE detection were faropenem (FRPM) > 2 µg/mL at 100% and meropenem > 0.25 µg/mL at 98.9%; the highest specificity to CPE detection was for avibactam/ceftazidime (AVI/CAZ) > 8 µg/mL at 100%. The sensitivity and specificity of each card in the AES output were 86.2% and 94.7% for AST-N404 and AST-XN17 and 91.5% and 90.8% for AST-N268 and AST-XN17, respectively. AST using the VITEK2 AST-XN17 card is a useful test method of screening for CPE.
A Longitudinal Examination of Withholding All or Part of School Recess on Children’s Physical Activity and Sedentary Behavior: Evidence from a Natural Experiment
Authors: Carriedo Alejandro , Cecchini José A. 
Published: February 2022

AbstractSchool recess is a daily opportunity for school-age students to be physically active. However, in some territories teachers often use recess for other purposes (e.g., children’s poor classroom behavior might be punished with reduced time for recess). This study aimed to examine the impact of such practices on children’s physical activity (PA) and the relationships between PA, gender, body mass index (BMI), and academic achievement. Forty-six first-grade students from two natural classrooms wore an accelerometer over the course of 6 weeks to measure their metabolic equivalent of task (METs) and sedentary behavior during school recess. Gender, age, BMI, the classroom to which students belonged, and academic achievement were also analyzed in two Generalized Estimating Equations models. Results revealed that boys achieved more METs and spent less time participating in sedentary behavior than girls during recess. Children within a healthy weight range of BMI yielded more METs than underweight and overweight/obese children. Academic achievement was positively associated with the METS and negatively with the sedentary behavior. Finally, withholding all or part of school recess significantly reduced children’s PA and extended their sedentary behavior. The literature indicates that school recess plays an important role in promoting numerous children’s health outcomes. Therefore, students should not be excluded from participation in all or part of recess.
Effectiveness and Safety of Laparoscopic Sleeve Gastrectomy for Weight Loss in Mild Obesity: Prospective Cohort Study with 3-Year Follow-up
Authors: Elnabil-Mortada Ahmed , Elmaleh Haitham M. , Ackroyd Roger , Khaled Rabbah A. 
Published: February 2022

Abstract

Purpose

Patients with mild obesity especially in absence of associated medical problems (OAMP) are commonly managed by non-surgical approaches. Laparoscopic sleeve gastrectomy (LSG) has proved itself to be effective and it is now the most performed weight loss procedure. We aimed to study the effectiveness and safety of LSG for weight loss in mild obesity.

Methods
A prospective cohort study. Group A; BMI (30–34.9 kg/m2), and group B; BMI ≥ 40 or BMI ≥ 35 with OAMP. Demographic data, perioperative complications, % excess weight loss (EWL), % total weight loss (TWL), nutritional profile, and evolution of OAMP were recorded and statistically analyzed.

Results
A total of 250 patients, with 80 patients (32%) in group A, and 170 (68%) in group B. The majority were female. The mean preoperative weight, BMI, and excess weight were 90.1 ± 9.52, 32.7 ± 1.4, and 21.5 ± 4.9 in group A, and 129.88 ± 26.12, 47.8 ± 8.2, and 62.3 ± 23.6 kg in group B respectively. The low BMI group had significantly lower OAMP, with higher pre-LSG non-surgical procedures rate. Overall post-operative morbidity rate was significantly higher in group B. %TWL was significantly lower in low BMI group. Nutritional profile was within the normal range in both groups at 3-year follow-up.

Conclusion
Laparoscopic sleeve gastrectomy is a safe and effective weight loss solution for mild obesity with better outcome than for higher BMI. Further studies are warranted to reconsider NIH’s statement for medicolegal aspects, and for matching the current changes in bariatric surgery practice, safety evidence, and patients’ demand.

Graphical abstract
Provision of cross-domain knowledge in mechanical joining using ontologies
Authors: Zirngibl Christoph , Kügler Patricia , Popp Julian , Bielak Christian R. , Bobbert Mathias , Drummer Dietmar , Meschut Gerson , Wartzack Sandro , Schleich Benjamin 
Published: February 2022

AbstractSince the application of mechanical joining methods, such as clinching or riveting, offers a robust solution for the generation of advanced multi-material connections, the use in the field of lightweight designs (e.g. automotive industry) is steadily increasing. Therefore, not only the design of an individual joint is required but also the dimensioning of the entire joining connection is crucial. However, in comparison to thermal joining techniques, such as spot welding, the evaluation of the joints’ resistance against defined requirements (e.g. types of load, minimal amount of load cycles) mainly relies on the consideration of expert knowledge, a few design principles and a small amount of experimental data. Since this generally implies the involvement of several domains, such as the material characterization or the part design, a tremendous amount of data and knowledge is separately generated for a certain dimensioning process. Nevertheless, the lack of formalization and standardization in representing the gained knowledge leads to a difficult and inconsistent reuse, sharing or searching of already existing information. Thus, this contribution presents a specific ontology for the provision of cross-domain knowledge about mechanical joining processes and highlights two potential use cases of this ontology in the design of clinched and pin joints.
Some results on the Gaussian Markov Random Field construction problem based on the use of invariant subgraphs
Authors: Baz Juan , Díaz Irene , Montes Susana , Pérez-Fernández Raúl 
Published: February 2022

AbstractThe study of Gaussian Markov Random Fields has attracted the attention of a large number of scientific areas due to its increasing usage in several fields of application. Here, we consider the construction of Gaussian Markov Random Fields from a graph and a positive-definite matrix, which is closely related to the problem of finding the Maximum Likelihood Estimator of the covariance matrix of the underlying distribution. In particular, it is simultaneously required that the variances and the covariances between variables associated with adjacent nodes in the graph are fixed by the positive-definite matrix and that pairs of variables associated with non-adjacent nodes in the graph are conditionally independent given all other variables. The solution to this construction problem exists and is unique up to the choice of a vector of means. In this paper, some results focusing on a certain type of subgraphs (invariant subgraphs) and a representation of the Gaussian Markov Random Field as a Multivariate Gaussian Markov Random Field are presented. These results ease the computation of the solution to the aforementioned construction problem.
Ultrasound Perfusion Imaging for the Detection of Cerebral Hypoperfusion After Aneurysmal Subarachnoid Hemorrhage
Authors: Fung Christian , Heiland Dieter Henrik , Reitmeir Raluca , Niesen Wolf-Dirk , Raabe Andreas , Eyding Jens , Schnell Oliver , Rölz Roland , Z´Graggen Werner J. , Beck Jürgen 
Published: February 2022

Abstract
Background
Delayed cerebral ischemia increases mortality and morbidity after aneurysmal subarachnoid hemorrhage (aSAH). Various techniques are applied to detect cerebral vasospasm and hypoperfusion. Contrast-enhanced ultrasound perfusion imaging (UPI) is able to detect cerebral hypoperfusion in acute ischemic stroke. This prospective study aimed to evaluate the use of UPI to enable detection of cerebral hypoperfusion after aSAH.

Methods
We prospectively enrolled patients with aSAH and performed UPI examinations every second day after aneurysm closure. Perfusion of the basal ganglia was outlined to normalize the perfusion records of the anterior and posterior middle cerebral artery territory. We applied various models to characterize longitudinal perfusion alterations in patients with delayed ischemic neurologic deficit (DIND) across the cohort and predict DIND by using a multilayer classification model.

Results
Between August 2013 and December 2015, we included 30 patients into this prospective study. The left–right difference of time to peak (TTP) values showed a significant increase at day 10–12. Patients with DIND demonstrated a significant, 4.86 times increase of the left–right TTP ratio compared with a mean fold change in patients without DIND of 0.9 times (p = 0.032).

Conclusions
UPI is feasible to enable detection of cerebral tissue hypoperfusion after aSAH, and the left–right difference of TTP values is the most indicative result of this finding.
Literatur in vereinfachter Sprache: Einfachheit und literarische Ästhetik
Authors: Hennig Mathilde , Jacob Joachim 
Published: February 2022

ZusammenfassungDer naheliegenden Annahme, dass die Rahmenbedingungen Leichter und Einfacher Sprache erhebliche Grenzen für eine literarästhetische Gestaltung von Texten setzen, steht eine inzwischen stark verbreitete Praxis der Produktion literarischer Texte in Leichter und Einfacher Sprache (und zwar sowohl als Übersetzungen vorliegender literarischer Werke als auch als Eigenproduktionen) gegenüber. Der Artikel nimmt das zum Anlass, die Frage, inwieweit Einfachheit und Literarästhetik aufeinander beziehbar sind, aus einer linguistisch-literaturwissenschaftlich interdisziplinären Perspektive zu diskutieren. Der Artikel stellt Überlegungen zu Einfachheit und Komplexität aus literaturwissenschaftlicher und linguistischer Perspektive gegenüber und setzt sie in Beziehung zu den vorliegenden Regelwerken zu Leichter Sprache sowie Empfehlungen zum Verfassen von Literatur in Einfacher Sprache. Ausgehend von einem einfachen Grundverständnis einer Komplexität-Simplizität-Skala, das von einem Mehr vs. Weniger von Komplexitätsmerkmalen ausgeht, diskutiert der Beitrag, welche literarästhetischen Merkmale für Analysen dieser Art in Frage kommen. Ein exemplarischer Blick auf den kreativen Umgang mit Einfachheit in drei Textbeispielen rundet die Überlegungen ab.