bluuebunny/crossref_metadata_2025_split huggingface dataset:
Neuromuscular symptoms in patients with RYR1-related malignant hyperthermia and rhabdomyolysis
Authors: van den Bersselaar Luuk R , Jungbluth Heinz , Kruijt Nick , Kamsteeg Erik-Jan , Fernandez-Garcia Miguel A , Treves Susan , Riazi Sheila , Malagon Ignacio , van Eijk Lucas T , van Alfen Nens , van Engelen Baziel G M , Scheffer Gert-Jan , Snoeck Marc M J , Voermans Nicol C 
Published: November 2022

Abstract
Malignant hyperthermia and exertional rhabdomyolysis have conventionally been considered episodic phenotypes that occur in otherwise healthy individuals in response to an external trigger. However, recent studies have demonstrated a clinical and histopathological continuum between patients with a history of malignant hyperthermia susceptibility and/or exertional rhabdomyolysis and RYR1-related congenital myopathies. We hypothesize that patients with a history of RYR1-related exertional rhabdomyolysis or malignant hyperthermia susceptibility do have permanent neuromuscular symptoms between malignant hyperthermia or exertional rhabdomyolysis episodes. We performed a prospective cross-sectional observational clinical study of neuromuscular features in patients with a history of RYR1-related exertional rhabdomyolysis and/or malignant hyperthermia susceptibility (n = 40) compared with healthy controls (n = 80). Patients with an RYR1-related congenital myopathy, manifesting as muscle weakness preceding other symptoms as well as other (neuromuscular) diseases resulting in muscle weakness were excluded. Study procedures included a standardized history of neuromuscular symptoms, a review of all relevant ancillary diagnostic tests performed up to the point of inclusion and a comprehensive, standardized neuromuscular assessment. Results of the standardized neuromuscular history were compared with healthy controls. Results of the neuromuscular assessment were compared with validated reference values. The proportion of patients suffering from cramps (P &lt; 0.001), myalgia (P &lt; 0.001) and exertional myalgia (P &lt; 0.001) was higher compared with healthy controls. Healthcare professionals were consulted because of apparent neuromuscular symptoms by 17/40 (42.5%) patients and 7/80 (8.8%) healthy controls (P &lt; 0.001). Apart from elevated creatine kinase levels in 19/40 (47.5%) patients and mild abnormalities on muscle biopsies identified in 13/16 (81.3%), ancillary investigations were normal in most patients. The Medical Research Council sum score, spirometry and results of functional measurements were also mostly normal. Three of 40 patients (7.5%) suffered from late-onset muscle weakness, most prominent in the proximal lower extremity muscles. Patients with RYR1 variants resulting in malignant hyperthermia susceptibility and/or exertional rhabdomyolysis frequently report additional neuromuscular symptoms such as myalgia and muscle cramps compared with healthy controls. These symptoms result in frequent consultation of healthcare professionals and sometimes in unnecessary invasive diagnostic procedures. Most patients do have normal strength at a younger age but may develop muscle weakness later in life.
First case report of fully robotically assisted lithotripsy in heavily calcified left main stenosis
Authors: Hofmann Felix J , Dörr Oliver , Blachutzik Florian , Boeder Niklas F , Elsässer Albrecht , Möllmann Helge , Nef Holger M 
Published: November 2022

AbstractBackgroundPercutaneous coronary intervention (PCI) is the standard-of-care treatment for left main stenosis as an alternative to bypass surgery. In addition, severe coronary lesion calcification can be modified by intravascular lithotripsy (IVL). However, with PCI and debulking treatment options, there are inherent limitations. PCI poses an increased health burden for the treating physician that is associated with wearing a heavy, lead-lined apron and being exposed to radiation. To overcome these issues, a robotically assisted angioplasty system (rPCI) was established that enables the operator to perform PCI remotely in routine clinical procedures. Furthermore, IVL have not been used remotely.Case summaryHere, we report the use of this technique for treating a heavily calcified left main stenosis in an 82-year-old male with previously diagnosed two-vessel coronary artery disease, progressive symptoms of dyspnoea at high cardio-vascular risk profile. The decision of the local heart team declined surgery. To the best of our knowledge, this is the first report of successful rPCI combined with IVL.DiscussionIn the case presented, rPCI was feasible and safe even in a complex lesion of the left main coronary artery requiring IVL. rPCI is a revolutionary new technique that may be applied to various types of coronary artery lesions.
What helps the successful implementation of digital decision aids supporting shared decision-making in cardiovascular diseases? A systematic review
Authors: Peters Loes J , Torres-Castaño Alezandra , van Etten-Jamaludin Faridi S , Perestelo Perez Lilisbeth , Ubbink Dirk T 
Published: November 2022

Abstract

Aims
Although digital decision aids (DAs) have been developed to improve shared decision-making (SDM), also in the cardiovascular realm, its implementation seems challenging. This study aims to systematically review the predictors of successful implementation of digital DAs for cardiovascular diseases.

Methods and results
Searches were conducted in MEDLINE, Embase, PsycInfo, CINAHL, and the Cochrane Library from inception to November 2021. Two reviewers independently assessed study eligibility and risk of bias. Data were extracted by using a predefined list of variables. Five good-quality studies were included, involving data of 215 patients and 235 clinicians. Studies focused on DAs for coronary artery disease, atrial fibrillation, and end-stage heart failure patients. Clinicians reported DA content, its effectivity, and a lack of knowledge on SDM and DA use as implementation barriers. Patients reported preference for another format, the way clinicians used the DA and anxiety for the upcoming intervention as barriers. In addition, barriers were related to the timing and Information and Communication Technology (ICT) integration of the DA, the limited duration of a consultation, a lack of communication among the team members, and maintaining the hospital’s number of treatments. Clinicians’ positive attitude towards preference elicitation and implementation of DAs in existing structures were reported as facilitators.

Conclusion
To improve digital DA use in cardiovascular diseases, the optimum timing of the DA, training healthcare professionals in SDM and DA usage, and integrating DAs into existing ICT structures need special effort. Current evidence, albeit limited, already offers advice on how to improve DA implementation in cardiovascular medicine.
Venoarterial extracorporeal membrane oxygenation (VA-ECMO) with vs. without left ventricular unloading by Impella: a systematic review and meta-analysis
Authors: Cappannoli Luigi , Galli Mattia , Zito Andrea , Restivo Attilio , Princi Giuseppe , Laborante Renzo , Vergallo Rocco , Romagnoli Enrico , Leone Antonio Maria , Aurigemma Cristina , Massetti Massimo , Sanna Tommaso , Trani Carlo , Burzotta Francesco , Savarese Gianluigi , Crea Filippo , D'Amario Domenico 
Published: November 2022

Abstract

Background and aims
The use of venoarterial extracorporeal membrane oxygenation (VA-ECMO) for the treatment of cardiogenic shock (CS) may result in left ventricle overload and distension. Percutaneous microaxial flow pump Impella in addition to VA-ECMO (ECPELLA) is an emerging option to overcome these collateral effects. Aim of this study is to assess whether the addition of Impella to VA-ECMO is an effective and safe unloading strategy.

Methods and results
We performed a systematic literature review of studies comparing ECPELLA vs. ECMO alone in patients with CS. The primary endpoint was early mortality (in-hospital or 30-day mortality). The secondary endpoints were bleeding, need for kidney replacement therapy, haemolysis, infections, and limb ischaemia. A total of 3469 potentially relevant articles were screened and eight retrospective studies including 11.137 patients were selected. There was no significant difference in early mortality (Risk Ratio, RR 0.90, 95% CI 0.78–1.03) between ECPELLA and ECMO. Nevertheless, there was a borderline significant reduction in early mortality with ECPELLA (RR 0.74, 95% CI 0.55–1.00) at sensitivity analysis selectively including studies reporting propensity matched analysis. ECPELLA was associated with increased bleeding (RR 1.45, 95% CI 1.20–1.75), need for kidney replacement therapy (RR 1.54, 95% CI 1.19–1.99), haemolysis (RR 1.71, 95% CI 1.41–2.07) and limb ischaemia (RR 1.43, 95% CI 1.17–1.75) and with a non-significant increase in severe infections (RR 1.26, 95% CI 0.84–1.89), compared with ECMO alone.

Conclusion
Among patients with cardiogenic shock, ECPELLA is associated with increased complications compared with ECMO. Whether reducing ventricular overload with Impella among patients treated with ECMO reduces early mortality needs to be confirmed by further investigations.
High-quality genome assembles from key Hawaiian coral species
Authors: Stephens Timothy G , Lee JunMo , Jeong YuJin , Yoon Hwan Su , Putnam Hollie M , Majerová Eva , Bhattacharya Debashish 
Published: November 2022

Abstract

Background
Coral reefs house about 25% of marine biodiversity and are critical for the livelihood of many communities by providing food, tourism revenue, and protection from wave surge. These magnificent ecosystems are under existential threat from anthropogenic climate change. Whereas extensive ecological and physiological studies have addressed coral response to environmental stress, high-quality reference genome data are lacking for many of these species. The latter issue hinders efforts to understand the genetic basis of stress resistance and to design informed coral conservation strategies.

Results
We report genome assemblies from 4 key Hawaiian coral species, Montipora capitata, Pocillopora acuta, Pocillopora meandrina, and Porites compressa. These species, or members of these genera, are distributed worldwide and therefore of broad scientific and ecological importance. For M. capitata, an initial assembly was generated from short-read Illumina and long-read PacBio data, which was then scaffolded into 14 putative chromosomes using Omni-C sequencing. For P. acuta, P. meandrina, and P. compressa, high-quality assemblies were generated using short-read Illumina and long-read PacBio data. The P. acuta assembly is from a triploid individual, making it the first reference genome of a nondiploid coral animal.

Conclusions
These assemblies are significant improvements over available data and provide invaluable resources for supporting multiomics studies into coral biology, not just in Hawaiʻi but also in other regions, where related species exist. The P. acuta assembly provides a platform for studying polyploidy in corals and its role in genome evolution and stress adaptation in these organisms.
Accurate gene consensus at low nanopore coverage
Authors: Espada Rocío , Zarevski Nikola , Dramé-Maigné Adèle , Rondelez Yannick 
Published: November 2022

Abstract

Background
Nanopore technologies allow high-throughput sequencing of long strands of DNA at the cost of a relatively large error rate. This limits its use in the reading of amplicon libraries in which there are only a few mutations per variant and therefore they are easily confused with the sequencing noise. Consensus calling strategies reduce the error but sacrifice part of the throughput on reading typically 30 to 100 times each member of the library.

Findings
In this work, we introduce SINGLe (SNPs In Nanopore reads of Gene Libraries), an error correction method to reduce the noise in nanopore reads of amplicons containing point variations. SINGLe exploits that in an amplicon library, all reads are very similar to a wild-type sequence from which it is possible to experimentally characterize the position-specific systematic sequencing error pattern. Then, it uses this information to reweight the confidence given to nucleotides that do not match the wild-type in individual variant reads and incorporates it on the consensus calculation.

Conclusions
We tested SINGLe in a mutagenic library of the KlenTaq polymerase gene, where the true mutation rate was below the sequencing noise. We observed that contrary to other methods, SINGLe compensates for the systematic errors made by the basecallers. Consequently, SINGLe converges to the true sequence using as little as 5 reads per variant, fewer than the other available methods.
Integration of semi-in vivo assays and multi-omics data reveals the effect of galloylated catechins on self-pollen tube inhibition in Camellia oleifera
Authors: Chang Yihong , Gong Wenfang , Xu Jinming , Gong Han , Song Qiling , Xiao Shixin , Yuan Deyi 
Published: November 2022

Abstract
Camellia oil extracted from the seeds of Camellia oleifera Abel. is a popular and high-quality edible oil, but its yield is limited by seed setting, which is mainly caused by self-incompatibility (SI). One of the obvious biological features of SI plants is the inhibition of self-pollen tubes; however, the underlying mechanism of this inhibition in C. oleifera is poorly understood. In this study, we constructed a semi-in vivo pollen tube growth test (SIV-PGT) system that can screen for substances that inhibit self-pollen tubes without interference from the genetic background. Combined with multi-omics analysis, the results revealed the important role of galloylated catechins in self-pollen tube inhibition, and a possible molecular regulatory network mediated by UDP-glycosyltransferase (UGT) and serine carboxypeptidase-like (SCPL) was proposed. In summary, galloylation of catechins and high levels of galloylated catechins are specifically involved in pollen tube inhibition under self-pollination rather than cross-pollination, which provides a new understanding of SI in C. oleifera. These results will contribute to sexual reproduction research on C. oleifera and provide theoretical support for improving Camellia oil yield in production.
Stability–Maneuverability Tradeoffs Provided Diverse Functional Opportunities to Shelled Cephalopods
Authors: Peterman David J , Ritterbush Kathleen A 
Published: November 2022

Synopsis
Stability–maneuverability tradeoffs impose various constraints on aquatic locomotion. The fossil record houses a massive morphological dataset that documents how organisms have encountered these tradeoffs in an evolutionary framework. Externally shelled cephalopods (e.g., ammonoids and nautiloids) are excellent targets to study physical tradeoffs because they experimented with numerous conch morphologies during their long-lived evolutionary history (around 0.5 billion years). The tradeoff between hydrostatic stability and maneuverability was investigated with neutrally buoyant biomimetic models, engineered to have the same mass distributions computed for their once-living counterparts. Monitoring rocking behavior with 3D motion tracking reveals how stability influenced the life habits of these animals. Cephalopods with short body chambers and rapid whorl expansion (oxycones) more quickly attenuate rocking, while cephalopods with long body chambers (serpenticones and sphaerocones) had improved pitch maneuverability. Disparate conch morphologies presented broad functional opportunities to these animals, imposing several advantages and consequences across the morphospace. These animals navigated inescapable physical constraints enforced by conch geometry, illuminating key relationships between functional diversity and morphological disparity in aquatic ecosystems. Our modeling techniques correct for differences in material properties between physical models and those inferred for their living counterparts. This approach provides engineering solutions to the obstacles created by buoyancy, mass distributions, and moments of inertia, permitting more lifelike, free-swimming biomechanical models and aquatic robots.
Univariate and Multivariate Determination of Dapagliflozin and Saxagliptin in Bulk and Dosage Form
Authors: Elhassan Manar M , Mahmoud Amr M , Hegazy Maha A , Mowaka Shereen 
Published: November 2022

Abstract

Background
Dapagliflozin is a sodium glucose cotransporter-II inhibitor while saxagliptin is a dipeptidyl peptidase-4 inhibitor. Both are used to manage type 2 diabetes mellitus.

Objective
The aim of this work is to develop four simple, accurate, and precise UV-spectrophotometric methods, three univariate and one multivariate, for the estimation of dapagliflozin and saxagliptin in their pure and marketed dosage forms.

Methods
Method (A) is based on the ratio difference method; Method (B) is ratio subtraction with constant multiplication; while Method (C) is a second derivative method and Method (D) is a partial least-squares method.

Results
The calibration curves for dapagliflozin and saxagliptin were linear within the concentration range of 2.50–50.0 μg/mL and 5.0–60.0 μg/mL, respectively. The specificity of the proposed methods was studied by analyzing different laboratory-prepared mixtures and their combined pharmaceutical dosage form. According to the International Council for Harmonisation guidelines, the three proposed methods were validated regarding the accuracy, precision, and specificity. Method (D), partial least-squares, was employed for the determination of the same mixture over a wavelength range of 205–300 nm. A statistical comparison was performed between the results of the proposed methods and those of a reported spectrophotometric method and no statistically significant difference was detected at 95% confidence limit regarding both precision and accuracy.

Conclusion
Four accurate, specific, and precise UV-spectrophotometric methods for dapagliflozin and saxagliptin testing and estimation were successfully utilized and validated.

Highlights
The examined methods are simple and do not involve sophisticated and expensive instruments. They could be effectively employed in quality control laboratories for routine examination of the investigated drugs in their pure powdered or combined pharmaceutical formulations.
Rapid Determination of Polysaccharides in Cistanche Tubulosa Using Near-Infrared Spectroscopy Combined with Machine Learning
Authors: Wang Yu , Tian Zhan-Ping , Xie Jia-Jia , Luo Ying , Yao Jun , Shen Jing 
Published: November 2022

Abstract

Background
Cistanche tubulosa, as a homology of medicine and food, not only has a unique medicinal value but also is widely used in healthcare products. Polysaccharide is one of its important quality indicators.

Objective
In this study, an analytical model based on near-infrared (NIR) spectroscopy combined with machine learning was established to predict the polysaccharide content of C. tubulosa.

Methods
The polysaccharide content in the samples determined by the phenol–sulfuric acid method was used as a reference value, and machine learning was applied to relate the spectral information to the reference value. Dividing the samples into a calibration set and a prediction set using the Kennard–Stone algorithm. The model was optimized by various preprocessing methods, including Savitzky–Golay (SG), standard normal variate (SNV), multiple scattering correction (MSC), first-order derivative (FD), second-order derivative (SD), and combinations of them. Variable selection was performed through the successive projections algorithm (SPA) and stability competitive adaptive reweighted sampling (sCARS). Four machine learning models were used to build quantitative models, including the random forest (RF), partial least-squares (PLS), principal component regression (PCR), and support vector machine (SVM). The evaluation indexes of the model were the coefficient of determination (R2), root-mean-square error (RMSE), and residual prediction deviation (RPD).

Results
RF performs best among the four machine learning models. R2c （calibration set coefficient of determination） and RMSEC （root mean square error of the calibration set）, %, were 0.9763. and 0.3527 for calibration, respectively. R2p （prediction set coefficient of determination）, RMSEP （root mean square error of the prediction set）, %, and RPD were 0.9230, 0.5130, and 3.33 for prediction, respectively.

Conclusion
The results indicate that NIR combined with the RF is an effective method applied to the quality evaluation of the polysaccharides of C. tubulosa.

Highlights
Four quantitative models were developed to predict the polysaccharide content in C. tubulosa, and good results were obtained. The characteristic variables were basically determined by the sCARS algorithm, and the corresponding characteristic groups were analyzed.
Aberrant elevation of FTO levels promotes liver steatosis by decreasing the m6A methylation and increasing the stability of SREBF1 and ChREBP mRNAs
Authors: Tang Zhili , Sun Chao , Yan Ying , Niu Zhoumin , Li Yuying , Xu Xi , Zhang Jing , Wu Yuting , Li Yan , Wang Li , Hu Cheng , Li Zhuoyang , Jiang Jingjing , Ying Hao 
Published: November 2022

ABSTRACTPrevious studies have indicated an association of fat mass and obesity-associated (FTO) with nonalcoholic fatty liver disease (NAFLD), the most common chronic liver disease worldwide. This study aimed to decipher the complex role of FTO in hepatic lipid metabolism. We found that a decrease in N6-methyladenosine (m6A) RNA methylation in the liver of mice fed with a high-fat diet (HFD) was accompanied by an increase in FTO expression. Overexpression of FTO in the liver promoted triglyceride accumulation by upregulating the expression of lipogenic genes. Mechanistical studies revealed that FTO could stabilize the mRNAs of sterol regulatory element binding transcription factor 1 (SREBF1) and carbohydrate responsive element binding protein (ChREBP), two master lipogenic transcription factors, by demethylating m6A sites. Knockdown of either SREBF1 or ChREBP attenuated the lipogenic effect of FTO, suggesting that they are bona fide effectors for FTO in regulating lipogenesis. Insulin could stimulate FTO transcription through a mechanism involving the action of intranuclear insulin receptor beta, while knockdown of FTO abrogated the lipogenic effect of insulin. Inhibition of FTO by entacapone decreased the expression of SREBF1, ChREBP, and downstream lipogenic genes, ameliorating liver steatosis in HFD-fed mice. Thus, our study established a critical role of FTO in both the insulin-regulated hepatic lipogenesis and the pathogenesis of NAFLD and provided a potential strategy for treating NAFLD.
Incidence Trends of Kaposi Sarcoma Among Young Non-Hispanic Black Men by US Regions, 2001-2018
Authors: Suk Ryan , White Donna L , Knights Sheena , Nijhawan Ank , Deshmukh Ashish A , Chiao Elizabeth Y 
Published: November 2022

Abstract
Despite the overall national decline in Kaposi sarcoma (KS) incidence in the United States among persons living with HIV, previous studies suggest there might be specific subgroups of the US population that are associated with higher KS incidence rates than others. Using the 2001-2018 National Program of Cancer Registries and Surveillance, Epidemiology, and End Results Program database, we assessed KS incidence trends among young men aged 20-34 years by race and ethnicity and geographic region. Statistical significance is 2-sided. The KS incidence rate increased nationally by 1.5% per year in non-Hispanic Black men, whereas the rate decreased statistically significantly by 3.5% per year in non-Hispanic White men. A statistically significant 3.3% per year increase among young non-Hispanic Black men in the South and no change among those living in non-South regions were observed. Targeted HIV prevention and treatment in young non-Hispanic Black men in the South and further research addressing the increased KS incidence and burden in this vulnerable population are needed.