bluuebunny/crossref_metadata_2025_split huggingface dataset:
New spinocerebellar ataxia subtype caused bySAMD9Lmutation triggering mitochondrial dysregulation (SCA49)
Authors: Corral-Juan Marc , Casquero Pilar , Giraldo-Restrepo Natalia , Laurie Steve , Martinez-Piñeiro Alicia , Mateo-Montero Raidili Cristina , Ispierto Lourdes , Vilas Dolores , Tolosa Eduardo , Volpini Victor , Alvarez-Ramo Ramiro , Sánchez Ivelisse , Matilla-Dueñas Antoni 
Published: February 2022

AbstractSpinocerebellar ataxias consist of a highly heterogeneous group of inherited movement disorders clinically characterized by progressive cerebellar ataxia variably associated with additional distinctive clinical signs. The genetic heterogeneity is evidenced by the myriad of associated genes and underlying genetic defects identified. In this study, we describe a new spinocerebellar ataxia subtype in nine members of a Spanish five-generation family from Menorca with affected individuals variably presenting with ataxia, nystagmus, dysarthria, polyneuropathy, pyramidal signs, cerebellar atrophy and distinctive cerebral demyelination. Affected individuals presented with horizontal and vertical gaze-evoked nystagmus and hyperreflexia as initial clinical signs, and a variable age of onset ranging from 12 to 60 years. Neurophysiological studies showed moderate axonal sensory polyneuropathy with altered sympathetic skin response predominantly in the lower limbs. We identified the c.1877C &gt; T (p.Ser626Leu) pathogenic variant within the SAMD9L gene as the disease causative genetic defect with a significant log-odds score (Zmax = 3.43; θ = 0.00; P &lt; 3.53 × 10−5). We demonstrate the mitochondrial location of human SAMD9L protein, and its decreased levels in patients’ fibroblasts in addition to mitochondrial perturbations. Furthermore, mutant SAMD9L in zebrafish impaired mobility and vestibular/sensory functions. This study describes a novel spinocerebellar ataxia subtype caused by SAMD9L mutation, SCA49, which triggers mitochondrial alterations pointing to a role of SAMD9L in neurological motor and sensory functions.
LncRNA LINC02253 activates KRT18/MAPK/ERK pathway by mediating N6-methyladenosine modification of KRT18 mRNA in gastric cancer
Authors: Gao Zengzhan , Long Yanbin , Wu Yunhua , Pu Yansong , Xue Fei 
Published: February 2022

Abstract
Long non-coding RNAs (lncRNAs) play a crucial role in gastric cancer (GC) progression. And understanding the role of N6-methyladenosine (m6A) in tumorigenesis is an emerging field in cancer research. Here, we identified a novel oncogene, lncRNA LINC02253, in GC. LINC02253 expression was found to be significantly increased in GC. And LINC02253 expression was closely correlated with tumor size, lymph node metastasis and TNM stage of GC. Besides, GC patients with higher LINC02253 expression had worse 5-year overall survival. Additionally, LINC02253 promoted GC cell growth, migration and invasion both in vitro and in vivo. Mechanistically, we determined that LINC02253 increased KRT18 expression through enhancing the stability of KRT18 mRNA. Furthermore, LINC02253 increased m6A modification of KRT18 mRNA to stabilize KRT18 mRNA by recruiting m6A writer METTL3. And, rescue experiments revealed that KRT18 mediated the effects of LINC02253 on growth, migration and invasion of GC cells through activating MAPK/ERK signaling pathway. In conclusion, we demonstrates that oncogenic lncRNA LINC02253 positively regulates GC growth and metastasis via increasing METTL3-mediated mRNA stability of KRT18, extending the understanding of GC pathogenesis regulated by lncRNAs.
Research on the risk-evaluation model of power transmission and transformation projects based on multilevel fuzzy-thought weighting for cloud-model improvement
Authors: Xiao Yanli , Gou Ruixin , Wang Zheng , Wan Ye 
Published: February 2022

Abstract
The risk evaluation of power transmission and transformation projects is a complex and comprehensive evaluation process influenced by many factors and involves many indicators. In order to solve the uncertainty and fuzziness problems in the process of the multilevel fuzzy risk evaluation of power transmission and transformation projects, this paper introduces the cloud theory, which is specialized in the study of uncertainty problems and constructs the multilevel fuzzy comprehensive risk-evaluation model of power transmission and transformation projects based on the improved multilevel fuzzy-thought weighting based on the cloud model. Finally, the risk of the Beijing 220-kV Tangyu power transmission and transformation project is evaluated and the feasibility of the evaluation model is verified. The results of the evaluation and the evaluation layer cloud model are combined with MATLAB simulation to show that the risk level of the project is between large risk and general risk.
A fronto-insular-parietal network for the sense of body ownership
Authors: Moro Valentina , Pacella Valentina , Scandola Michele , Besharati Sahba , Rossato Elena , Jenkinson Paul M , Fotopoulou Akaterini 
Published: February 2022

Abstract
Neuropsychological disturbances in the sense of limb ownership provide unique opportunities to study the neurocognitive basis of body ownership. Previous small sample studies that showed discrete cortical lesions cannot explain why multisensory, affective, and cognitive manipulations alter disownership symptoms. We tested the novel hypothesis that disturbances in the sense of limb ownership would be associated not only with discrete cortical lesions but also with disconnections of white-matter tracts supporting specific functional networks. We drew on an advanced lesion-analysis and Bayesian statistics approach in 49 right-hemisphere patients (23 with and 26 without limb disownership). Our results reveal that disturbances in the sense of ownership are associated with lesions in the supramarginal gyrus and disconnections of a fronto-insular-parietal network, involving the frontal-insular and frontal inferior longitudinal tracts, confirming previous disconnection hypotheses. Together with previous behavioral and neuroanatomical results, these findings lead us to propose that the sense of body ownership involves the convergence of bottom-up, multisensory integration, and top-down monitoring of sensory salience based on contextual demands.
Are microbes and metabolites influencing the parental consumption of nestlings’ feces in gray-backed shrikes?
Authors: Hu Jie , Zeng Jingyuan , Shi Yurou , Song Sen 
Published: February 2022

AbstractThe behavioral video recordings of the gray-backed shrike Lanius tephronotus revealed that parent birds eat the feces produced by their nestlings. “Parental nutrition hypothesis” attributes the origin of this behavior to nutrition-recovery and cost-saving, respectively. However, the presence of usable nutrients in the nestlings’ feces is unknown because of traditional technology. In this study, we analyzed all the metabolites and the variations in the diversity and content of microbes in the feces of gray-backed shrike nestlings. We aimed to report the changes in microbes and metabolites with the age of nestlings and point out that the parent birds that eat the feces may gain potential nutrition benefits. The results showed that the relative abundances of Proteobacteria, Firmicutes, and Bacteroidota, changed significantly when the nestlings were 6 days old. The relative abundances of 6 probiotics, which are involved in digestion, metabolism, and immunity-related physiological functions, decreased in the nestlings’ feces gradually with age; therefore, these probiotics may be obtained by parent birds upon ingestion of the feces of young nestlings. Among the metabolites that were detected, 20 were lipids and some had a role in anti-parasitic functions and wound healing; however, their relative contents decreased with age. These beneficial substances in the nestlings’ feces may stimulate the parents to swallow the feces. Moreover, there were many aromatic metabolites in the newly hatched nestlings’ feces, but the content of bitter metabolites increased as they grew up. Therefore, our results are in accordance with the nutritional hypothesis.
The best of both worlds: cicada males change costly signals to achieve mates while females choose a mate based on both calling and courtship songs
Authors: Hou Zehai , Wei Songshan , Wei Cong 
Published: February 2022

AbstractCicadas usually sing and mate in the higher parts of trees. Studies addressing the effects of different acoustic signals on mate choice in Cicadidae are very limited. We investigated the effects of both acoustical features and morphological traits on mate choice in an East Asian cicada Platypleura kaempferi. Males produce high-rate calling songs that attract females, then produce low-rate courtship songs to secure mating when a female is attracted. Higher calling song rate (CR), shorter single-pulse duration, and shorter pulse period of the calling song, together with lower courtship song rate and longer echeme period of the courtship song, are the most desirable traits used by females to choose a mate. These traits indicate that the more a male can raise the rate of song production, the higher the probability he is sexually selected by the female. No correlation was found between morphological traits and mating success. After mating, a minority of males started emitting calling songs again, but the CR was significantly lower than before mating and none of them attracted a new mate later. This promotes females mating with unmated males. We hypothesize that P. kaempferi may have the best of both worlds due to the unique song modulation and the mechanism of female mate choice: males change energetically, costly acoustic signals to achieve mates, while females choose a mate based on males’ acoustic properties. Our results contribute to better understanding the diversity of mating preference and enrich the mechanism of mate choice in acoustic insects.
Case report of Campylobacter jejuni-associated myopericarditis: rare case of cardiac involvement by a common gastroenteritis pathogen
Authors: Miruzzi Lara , Callus Adrian , Yamagata Kentaro , Cassar Maempel Andrew 
Published: February 2022

Abstract

Background
Myocarditis is caused by inflammation affecting the heart muscle. The usual aetiological factor is viral, especially in immunocompetent hosts and developed countries. Campylobacter jejuni is a common cause of bacterial gastroenteritis but has rarely been associated with myocarditis.

Case summary
We report a case of a 22-year-old male admitted with pleuritic chest pain and a diarrhoeal illness. Thorough evaluation of the patient history did not reveal any sources for contracting the diarrhoea. Stool cultures confirmed that the patient had C. jejuni infection as well as myopericarditis confirmed on cardiac magnetic resonance imaging (cardiac MRI). Treatment with colchicine 0.5 mg BD, ibuprofen 600 mg TDS, and ciprofloxacin 500 mg BD orally for 5 days was started, together with an intravenous infusion of 0.9% normal saline 1 L TDS. The patient showed signs of improvement over a span of three days and the ST changes on electrocardiogram resolved.

Discussion
Although C. jejuni-associated myopericarditis is uncommon, it can be potentially life-threatening if not considered in the differential. Its diagnosis involves good history taking, examination, and investigation with electrocardiography, troponins and inflammatory markers, echocardiography, and cardiac MRI. Several mechanisms of infection have been suggested, including direct insult by toxin or bacterium as well as an immune-mediated response. Both supportive and causative treatments are important to ensure recovery while reducing the risk of complications. It is therefore crucial to ensure that the patient receives adequate follow-up to ascertain patient progress and to mitigate any complications that may arise as well as tackle patient concerns. The patient had a rapid recovery.
Successful bridge to recovery in a patient with fulminant giant cell myocarditis that developed from multiple autoimmune disorders including myasthenia gravis: a case report
Authors: Yagi Nobuichiro , Watanabe Takuya , Ikeda Yoshihiko , Fukushima Norihide 
Published: February 2022

Abstract

Background
A recently indicated immunotherapy strategy, combined with mechanical circulatory support (MCS), seems to improve outcomes in patients with fulminant giant cell myocarditis (GCM). However, characterizing a definitive clinical outcome of this strategy remains challenging, and the autoimmunity associated with the onset of GCM remains controversial.

Case summary
A 26-year-old man with poor control of atopic dermatitis and ulcerative colitis presented with cardiogenic shock requiring MCS. He was diagnosed with fulminant GCM; hence, immunotherapy (including steroids and intravenous immunoglobulin) was administered and an extracorporeal left ventricular assist device (LVAD) was needed. As the patient complained of prominent fatigue and double vision before myocarditis onset, and acetylcholine receptor-binding antibody titres were elevated, he was diagnosed with myasthenia gravis (MG). No anti-striational antibodies known to be associated with GCM in patients with MG were found in the patient’s serum. Cyclosporin-based immunosuppression under LVAD therapy led to an almost complete resolution of his muscle weakness, intermittent ptosis, and cardiac dysfunction along with the histopathological remission of GCM resulting in LVAD removal. He remained at home without recurrence of GCM and worsening symptoms of MG over the 6-month period following discharge.

Discussion
We describe a case of GCM with multiple autoimmune disorders, which recovered by treatment with early cyclosporin-based immunosuppressive therapy under LVAD therapy. The present case suggests the involvement of unknown anti-striational antibodies in the development of GCM in patients with MG and may provide information to guide a novel therapeutic regimen for patients with fulminant GCM requiring mechanical circulatory support.
Prevalence and distribution of coronary artery calcium in a southeast asian cohort
Authors: Wong C J , Choo H M C , Baskaran L , Koh N S Y , Huang Z , Chua T S J , Tan S Y , Huang W 
Published: February 2022

Abstract

Funding Acknowledgements
Type of funding sources: None.
Background
The coronary artery calcium score (CACS) independently predicts the risk of cardiovascular disease and major adverse cardiovascular events. While previous studies have demonstrated regional and ethnic differences in coronary calcification, the distribution of CACS in Southeast Asian (SEA) adults has not been investigated.
Purpose
The aim of this study was to determine CACS distribution in a SEA cohort living in Singapore.
Methods
This study involved 4945 asymptomatic patients who underwent CT coronary angiography and calcium scoring as part of screening for cardiovascular disease. Similar to the MESA study, patients with diabetes were analyzed separately due an increased prevalence of coronary calcification. A nonparametric analytical approach was used to determine CACS distribution stratified by age, gender and ethnicity.
Results
A positive CACS was seen in 43.7% of the overall SEA cohort with a higher prevalence in males (45.2%) than females (36.7%). The onset and burden of coronary calcification was also earlier and more severe in male subjects. There were no significant differences in CACS distribution amongst the three major ethnic groups in our study (p = 0.177). The presence of coronary calcification (CACS &gt;0) was associated with increasing age, male gender and hypertension. Ethnicity, dyslipidemia, smoking and a family history of coronary artery disease did not significantly affect the presence of CACS.
Conclusions
This study provides a reference CACS distribution in an asymptomatic SEA population. There were no significant differences in CACS distribution amongst the three major ethnic groups living in Singapore.
Hemodynamic change in patients with hypertrophic obstructive cardiomyopathy before and after alcohol septal ablation using 4D flow magnetic resonance imaging: a retrospective observational study
Authors: Suwa K , Akita K , Iguchi K , Ushio T , Maekawa Y 
Published: February 2022

Abstract

Funding Acknowledgements
Type of funding sources: Public grant(s) – National budget only. Main funding source(s): Ministry of Education, Science, Sports and Culture of Japan, Grants-in-Aid for Scientific Research

Background
The hemodynamics in the left ventricle (LV) and the ascending aorta (AAO) before and after alcohol septal ablation (ASA) in patients with hypertrophic obstructive cardiomyopathy (HOCM) is elucidated.

Purpose
Our objective was to evaluate the pattern changes in AAO and intra-LV flow assessed by four-dimensional (4D) flow magnetic resonance imaging (MRI) before and after ASA and to clarify the association between 4D flow MRI-derived hemodynamic characteristics and the peak pressure gradient (PPG) in patients with drug-refractory HOCM.

Methods
In this retrospective observational study, 11 patients with HOCM underwent 4D flow MRI before and a week after ASA. The 4D flow MRI included blood flow visualization and quantification using streamline images. The combined score of vortex and helix in AAO was analyzed. The duration and phase count of the AAO vortex or helix flow [Figure 1a with vortex (yellow allow) before ASA and 1b without vortex after ASA] and the size of the intra-LV anterior vortex (Figure 1c with smaller vortex before ASA and 1d with larger vortex after ASA, both in white circle) were quantified. The correlation between the changes in hemodynamics and the resting PPG at LV outflow tract was also analyzed. We used the paired t-test for the comparison between before and after ASA and the Pearson"s correlation coefficient for the analysis.

Results
The combined score for the incidence of vortex and/or helix flow in AAO after ASA was significantly lower than that before ASA (1.45 ± 0.52 vs. 1.09 ± 0.30, p = 0.046). The duration (744 ± 291 ms vs. 467 ± 258 ms, p &lt; 0.001) and phase count (14.8 ± 4.4 phases vs. 10.5 ± 5.8 phases, p &lt; 0.001) of the vortex or helix flow in AAO were significantly decreased after ASA. The LV anterior vortex area after ASA was significantly larger than that before ASA (1628 ± 420 mm2 vs. 2974 ± 539 mm2, p = 0.009). The delta phase count of the AAO vortex or helix before and a week after ASA was significantly correlated with delta PPG before and a week after ASA (Figure 2a; R = 0.79, p = 0.004) and with delta PPG before and 6 months after ASA (Figure 2b; R = 0.83, p = 0.002).

Conclusions
Lower vortex or helix flow in AAO and larger diastolic vortex flow in LV were observed after ASA, which suggests the possibility to detect the changes of aberrant hemodynamics in HOCM. Abstract Figure. Streamline images before and after ASA
The correlation between coronary artery disease and left ventricular filling pressure: which correlates more LVEDP or LV pre-A wave?
Authors: Barakat A , Amar A , Alsaadi A,R 
Published: February 2022

Abstract

Funding Acknowledgements
Type of funding sources: Public hospital(s). Main funding source(s): Al-mouwasat University Hospital and Uneversity Heart Surgery Center, Damascus, Syrian Arab Republic.

Background
Coronary artery disease (CAD) affects left ventricular (LV) systolic and diastolic function. This results in high filling pressure which expressed by different waves and may be assessed by invasive and noninvasive methods. Validation and comparing the correlation between CAD and different LV filling pressure waves may add a step forward in CAD diagnosis, prognosis and treatment.

Purpose
This study invasively validates the correlation between coronary artery disease (CAD) and left ventricular end-diastolic pressure (LVEDP) as well as left ventricular pre-A wave (LV pre-A wave) and compare the results.

Methods
124 patients who accepted to participate for this study underwent left heart catheterization for medical indications. This study obtained the results of LV filling pressures (LVEDP and LV pre-A wave), as well as, coronary angiography results with assessing the severity and extents (if CAD presents) by vessels number and Gensini Score (GS). Spearman r correlation were used for continuous/continuous or continuous/ordinal variables and Chi square test for nominal/nominal variables. Then we compared the results.

Results
CAD presence with elevated LVEDP incidence (OR = 4.29, relative risk = 1.85 P = 0.0123). Vessel number, plaque number and Gensini score correlations with LVEDP were (P = 0.0038 r = 0.34, P = 0.0002 r = 0.44, p = 0.0002 r = 0.43 and p = 0.0622 r = 0.22) respectively. In the same way, CAD presence with LV pre-a wave (OR = 2.75, relative risk = 1.5, P = 0.0447). Vessels number, plaque numbers and Gensini score relations with LV pre-A wave were (P = 0.0379 r = 0.23, P = 0.0004 r = 0.39, p = 0.0002 r = 0.40 and p = 0.0568 r = 0.21) respectively. All the results are summarized in Tables (1 + 2+3).

Conclusions
LV filling pressure had a significant correlation with CAD presence, vessel number and plaque number but it did not have a correlation with Gensini score. LVEDP had a stronger correlation with CAD presence, severity, sensitivity and extent but lower specificity than LV pre-A wave. Abstract Tables of results (1 + 2) Abstract Table of result 3
Smokers paradox in non-ST elevation acute coronary syndromes: does it exist?
Authors: Dakhil Z A , Farhan HASAN 
Published: February 2022

Abstract

Funding Acknowledgements
Type of funding sources: None.

Introduction
In Iraq; about third of males and 4% of females are smokers. There is no data from Middle eastern countries including Iraq on impact of smoking on prognosis in ACS

Purpose
to assess if there is smokersˈ paradox in patients with NSTE-ACS in terms of lower adverse in-hospital outcomes in smokers

Methods
Patients with NSTE-ACS were prospectively included. GRACE score was calculated. Patients were categorised into two groups: smokers vs non-smokers

Results
n.=200, 34.5% were smokers, smokers were younger 53.6 ± 11.2 vs 61.46 ± 11.2, p &lt; 0.001. smokers were males in 89.9% vs 60.3%, p &lt; 0.001 and were hypertensive in 55.1% vs 77.1% p = 0.001. No significant differences between two groups in having DM, IHD, positive family history of IHD nor in troponin positivity. Smokers had higher GFR 91.4 ± 21.9 vs 79.4 ± 22.1, p = 0.001 and higher haemoglobin 13.8 ± 1.9 vs 13.2 ± 2.1, p = 0.04. AF was recorded in 2.9% of smokers vs 11.5%. No statistical difference between groups regarding prescribed drugs including aspirin, P2Y12 inhibitors, B-blockers, ACEI/ARBs, CCB, nitrate, anticoagulant, statin, MRA or diuretic. Smokers were at high GRACE risk class in 21.7% vs 38.2%, p = 0.01, yet, they were catheterized in 76.8% vs 65.6% in non-smokers, p = 0.1. For those who were catheterized, timing to catheterisation did not differ with smoking, p = 0.06. There was no significant difference between the two groups regarding developing in-hospital acute heart failure, ongoing ischaemic chest pain, life-threatening arrhythmias, cardiogenic shock, stroke or death.

Conclusion
No smokersˈ paradox was observed as there were no differences in developing adverse in-hospital outcomes according to smoking status, yet smokers presented at lower risk class compared with non-smoker counterparts which can be explained by younger age and lower comorbidities in smokers. Preventive programs should be the goal to encourage smoking cessation to reduce cardiovascular diseases and mortality Abstract Figure. Abstract Figure.