bluuebunny/crossref_metadata_2025_split huggingface dataset:
Quantitative analysis of myocardial metabolic heterogeneity is superior to visual assessment for the detection of active cardiac sarcoidosis by F-18 FDG PET-CT imaging
Authors: Malik M , Yazdani M , Gould SM , Reyes E 
Published: February 2021

Abstract

Funding Acknowledgements
Type of funding sources: None.

Background
Myocardial inflammation may occur in the context of a multisystem disease such as sarcoidosis, adversely affecting prognosis. A definitive diagnosis of cardiac sarcoidosis (CS) is essential to implementing life-saving treatment but this is complicated by the invasive nature of endomyocardial biopsy (EMB) and its low accuracy. Positron emission tomography (PET) assists in diagnosis, which relies on visual interpretation of myocardial F-18 FDG uptake. The value of quantitative analysis and its application to clinical practice remain uncertain.

Purpose
To investigate the power of quantitative F-18 FDG PET-CT imaging analysis for detecting CS in patients with suspected disease.

Methods
All patients underwent F-18 FDG PET-CT after a 24-hour low-carbohydrate diet and 15-hour fasting as part of their diagnostic work-up for suspected cardiac inflammation. Cardiovascular magnetic resonance acted as gatekeeper to PET-CT in 8 of every 10 scans. Myocardial F-18 FDG uptake was assessed qualitatively and quantitatively using both manually drawn regions of interest and automatic polar maps to measure global and segmental standardised F-18 FDG uptake values (SUV). The coefficient of variation (CoV) was calculated to determine uptake heterogeneity. To confirm diagnosis, follow-up data regarding disease progression, further testing and treatment were collected. To allow for sufficient follow-up time, the first 40 consecutive patients from a prospective registry (n= 214; Sep 2017-Jun 2020) were included.

Results
A comprehensive clinical picture was obtained successfully in 37 patients (median [IQR], 17 [13.5] months) and a final diagnosis of CS reached in 7 (disease prevalence, 19%). EMB was performed in 2 patients only while 3 underwent PPM/ICD implantation. Significant predictors of CS were fulfilment of Japanese Ministry of Health and Welfare criteria (Wald, 6.44; p = 0.01) and left ventricular dysfunction (Wald 6.72; p = 0.01). Qualitative F-18 FDG PET-CT had a high negative (95%) but low positive (45%) predictive value for CS (sensitivity, 83%; specificity, 77%). F-18 FDG SUV CoV was the strongest imaging predictor (Wald, 6.77; p = 0.009) and was significantly higher in CS than non-CS (CoV median [quartiles], 0.26 [0.21, 0.36] and 0.12 [0.11, 0.14] respectively; p = 0.004). As per ROC curve analysis (AUC, 0.84), a CoV threshold of 0.20 was highly specific (93%) and sensitive (86%) for CS.

Conclusion
In a referring population with a low prevalence of cardiac sarcoidosis, F-18 FDG PET-CT imaging is sensitive for the detection of myocardial inflammation with active disease unlikely in patients with a negative scan. Quantitative evaluation of metabolic heterogeneity within the myocardium provides a strong, independent marker of active disease and should be considered alongside visual assessment.
Diagnostic value of coronary artery assessment by transthoracic ecocardiography
Authors: Kamenskikh M , Zagatina A , Zhuravskaya N , Shmatov D 
Published: February 2021

Abstract

Funding Acknowledgements
Type of funding sources: None.
Several recent studies have reported the opportunity for diagnosing significant narrowing of the coronary arteries during echocardiography using the local flow acceleration in the stenosis. However, there is a discrepancy between the cut-off coronary flow velocity (CFV) values in the literature.
The aim of our study was to define the cut-off value of CFV for coronary artery stenosis more than 50%.

Methods
In a single-center study, we evaluated 100 patients (53 men, 62 ± 11 y.o.) who underwent echocardiography with scans for CFV in 3 segments of left coronary artery. Coronary angiography was performed by an independent expert specialist, blind other data.

Results
Two hundred and fifty-three segments (84%) of proximal left coronary were feasible for assessment. There was a significant correlation between coronary flow velocity and percent of stenosis in the corresponding segments, R = 0.52; p &lt; 0.0000001, (figure). The cut-off value of 67 cm/s had sensitivity 69%, specificity 89%, accuracy 79%, р&lt;0.0004 for left main narrowing more than 50% by angiography. The cut-off value of 70 cm/s in proximal segment of left anterior descending had sensitivity 62%, specificity 88%, accuracy 82%, р&lt;0.0001, the cut-off value of 50 cm/s in proximal segment of left circumflex had sensitivity 73%, specificity 88%, accuracy 81%, р&lt;0.003 for stenoses of more than 50%.

Conclusion
There is a significant positive correlation between coronary flow velocity by echocardiography and degree of narrowing by angiography.
A case report of Leigh syndrome diagnosed by endomyocardial biopsy
Authors: Maruo Yuji , Ueda Yuki , Murayama Kei , Takeda Atsuhito 
Published: February 2021

Abstract

Background
Leigh syndrome is a neurodegenerative disorder caused by mitochondrial dysfunction with both phenotypic and genetic heterogeneity. Mitochondrial impairments are usually demonstrated by skeletal muscle biopsy. We report a case of Leigh syndrome diagnosed by endomyocardial biopsy (EMB), not by skeletal muscle biopsy.

Case summary
At aged 7 months, the patient had delayed motor development. He developed metabolic acidosis triggered by an infection with elevated lactate and pyruvate values in serum and cerebrospinal fluid when he was 1 year old. T2-weighted imaging on magnetic resonance imaging of the brain revealed bilateral hyperintensity in midbrain and dorsal pons. Biopsied skeletal muscle did not show evidence of mitochondrial disease. Left ventricular hypertrophy, bilateral putamen hyperintensity in T2-weighted imaging and a lactate peak in the right basal ganglia in single voxel spectroscopy, and a convulsive seizure appeared at the age of 12, 15, and 16, respectively. When he was 17 years old, biopsied myocardium showed cytoplasmic vacuolization and a marked proliferation of mitochondria within myofibrils pathologically. Respiratory chain enzyme activity of the biopsied myocardium showed decreased activity of complex I. Genetic testing revealed an m.14453 A&gt;G mutation on the MT-ND6 gene. He was finally diagnosed with Leigh syndrome. Administration of oral 5-aminolevulinic acid reduced the frequency of seizures.

Discussion
EMB led to the diagnosis of Leigh syndrome. Efforts to find and conduct the biopsy of affected organs are important to diagnose mitochondrial disease. EMB is a useful diagnostic method when there is a difficulty in diagnosing mitochondrial disease by skeletal muscle biopsy.
Spontaneous retroperitoneal haemorrhage post-coronary angioplasty: a case report
Authors: Jain Anshul Kumar , Aggarwal Ajay , Aggarwal Rishabh 
Published: February 2021

Abstract

Background
Spontaneous retroperitoneal haemorrhage (SRH) is a rare cause of retroperitoneal haemorrhage in patients who are on anticoagulants or antiplatelet agents or both.

Case summary
We report here a rare and catastrophic complication of use of anticoagulants and antiplatelet drugs in a case undergoing coronary angioplasty. The patient had multiple coronary risk factors and developed acute myocardial infarction with pulmonary oedema and hypotension during hospitalization for treatment of lower respiratory tract infection and diabetic ketoacidosis. He underwent successful angioplasty of the culprit vessel but later developed hypotension attributable to retroperitoneal haemorrhage. No bleeding site was identified despite extensive evaluation of the aorta and iliac vessels.

Discussion
A diagnosis of SRH is considered when a patient on anticoagulants or antiplatelet drugs develops retroperitoneal haemorrhage without any specific identifiable site of bleeding in the retroperitoneum. Diffuse vasculopathy and atherosclerosis or vasculitis of the small vessels in the retroperitoneum may result in rupture of the most friable vessels and result in bleeding. Intense cough, forceful vomiting or sneezing may also be responsible for traumatizing the vessels and resulting in bleeding. Most cases recover with conservative management but some may benefit from interventional occlusion of the leak or surgical decompression in cases of abdominal compartment syndrome.
Pheochromocytoma in a patient presenting with ventricular fibrillation and carotid dissection: a case report
Authors: Lanot Nicolas , Adda Jérôme , Roubille François , Akodad Mariama 
Published: February 2021

Abstract

Background
Pheochromocytoma is an endocrine tumour secreting catecholamines, most often revealed by clinical symptoms (headache, palpitations, diaphoresis, or resistant hypertension). Some cases of ventricular arrhythmias were described in the literature, without any formal link between arrhythmia and pheochromocytoma.

Case summary
We report a case of pheochromocytoma discovered after cardiac arrest due to ventricular fibrillation in a 46-year-old patient. The diagnosis was suggested by clinical symptoms (headache, palpitation, and diaphoresis) and suspected on the abdominal computed tomography scan. The diagnosis was corroborated by metaiodobenzylguanidine scintigraphy and finally confirmed by anatomopathological analysis of the operative specimen. The cerebral imaging showed a dissection of the left internal carotid artery and an intraparenchymal haematoma that might be secondary to a catecholaminergic discharge of phaeochromocytoma and severe hypertension.

Discussion
Since pheochromocytoma is accessible to curative treatment, its detection in case of cardiac arrest is essential to decrease the risk of arrhythmic recurrence.
Effect of a pragmatic home-based mobile health exercise intervention after transcatheter aortic valve replacement: a randomized pilot trial
Authors: Lindman Brian R , Gillam Linda D , Coylewright Megan , Welt Frederick G P , Elmariah Sammy , Smith Stephanie A , McKeel David A , Jackson Natalie , Mukerjee Kush , Cloud Harrison , Hanna Narden , Purpura Jenelle , Ellis Hannah , Martinez Vong , Selberg Alexandra M , Huang Shi , Harrell Frank E 
Published: February 2021

Abstract

Aims
Impaired physical function is common in patients undergoing transcatheter aortic valve replacement (TAVR) and associated with worse outcomes. Participation in centre-based cardiac rehabilitation (CR) after cardiovascular procedures is sub-optimal. We aimed to test a home-based mobile health exercise intervention as an alternative or complementary approach.

Methods and results
At five centres, after a run-in period, eligible individuals treated with TAVR were randomized 1:1 at their 1-month post-TAVR visit to an intervention group [activity monitor (AM) with personalized daily step goal and resistance exercises] or a control group for 6 weeks. Among 50 participants, average age was 76 years, 34% were female, average STS score was 2.9 ± 1.8, and 40% had Short Physical Performance Battery (SPPB) ≤9. Daily compliance with wearing the AM and performing exercises averaged 85–90%. In the intention to treat population, there was no evidence that the intervention improved the co-primary endpoints: daily steps +769 (95% CI −244 to +1783); SPPB +0.68 (−0.27 to 1.53); and Kansas City Cardiomyopathy Questionnaire −1.7 (−9.1 to 7.1). The intervention did improve secondary physical activity parameters, including moderate-to-intense daily active minutes (P &lt; 0.05). In a pre-specified analysis including participants who did not participate in CR (n = 30), the intervention improved several measures of physical activity: +1730 (100–3360) daily steps; +66 (28–105) daily active minutes; +53 (27–80) moderate-to-intense active minutes; and −157 (−265 to −50) sedentary minutes.

Conclusion
Among selected participants treated with TAVR, this study did not provide evidence that a pragmatic home-based mobile health exercise intervention improved daily steps, physical performance or QoL for the overall cohort. However, the intervention did improve several measures of daily activity, particularly among individuals not participating in CR.

Trial registry
Clinicaltrials.gov NCT03270124.
Operator-dependent variability of angiography-derived fractional flow reserve and the implications for treatment
Authors: Lal Katherine , Gosling Rebecca , Ghobrial Mina , Williams Gareth J , Rammohan Vignesh , Hose D Rod , Lawford Patricia V , Narracott Andrew , Fenner John , Gunn Julian P , Morris Paul D 
Published: February 2021

Abstract

Aims
To extend the benefits of physiologically guided percutaneous coronary intervention to many more patients, angiography-derived, or ‘virtual’ fractional flow reserve (vFFR) has been developed, in which FFR is computed, based upon the images, instead of being measured invasively. The effect of operator experience with these methods upon vFFR accuracy remains unknown. We investigated variability in vFFR results based upon operator experience with image-based computational modelling techniques.

Methods and results
Virtual fractional flow reserve was computed using a proprietary method (VIRTUheart) from the invasive angiograms of patients with coronary artery disease. Each case was processed by an expert (&gt;100 vFFR cases) and a non-expert (&lt;20 vFFR cases) operator and results were compared. The primary outcome was the variability in vFFR between experts and non-experts and the impact this had upon treatment strategy (PCI vs. conservative management). Two hundred and thirty-one vessels (199 patients) were processed. Mean non-expert and expert vFFRs were similar overall [0.76 (0.13) and 0.77 (0.16)] but there was significant variability between individual results (variability coefficient 12%, intraclass correlation coefficient 0.58), with only moderate agreement (κ = 0.46), and this led to a statistically significant change in management strategy in 27% of cases. Variability was significantly lower, and agreement higher, for expert operators; a change in their recommended management occurred in 10% of repeated expert measurements and 14% of inter-expert measurements.

Conclusion
Virtual fractional flow reserve results are influenced by operator experience of vFFR processing. This had implications for treatment allocation. These results highlight the importance of training and quality assurance to ensure reliable, repeatable vFFR results.
Short term effects of interceptive expansion treatment: a prospective study
Authors: Van de Velde A-S , De Boodt L , Cadenas de Llano-Pérula M , Laenen A , Willems G 
Published: February 2021

SummaryObjectivesThis prospective cohort study investigated the short term effects of interceptive orthodontic treatment with a removable expansion plate, evaluating the changes in occlusion in all its dimensions: transversal, sagittal and vertical.Subjects and methodsA total of 226 patients treated with a removable expansion plate (slow maxillary expansion, SME) by orthodontic residents at the Department of Orthodontics, University Hospitals Leuven, Belgium were included. The patients had a mean age of 8.5 years at the start of the treatment. The mean treatment time was 6.9 months. Transversal measurements (intercanine and intermolar width) and occlusal characteristics (molar occlusion, overjet, overbite and functional shift) were collected before (T0) and after active treatment (T1). Statistical analysis was performed using the Wilcoxon signed rank test, Sign test and McNemar test for assessing changes between T0 and T1. Linear models were used to assess the associations between patient factors and the amount of expansion.ResultsA significant increase in transversal width at different occlusal landmarks was found. Correction of unilateral, bilateral and frontal crossbites was successful in 99.0%, 95.2% and 93.6% of the cases respectively. Changes in sagittal molar occlusion were significant: 64.9% (right side) and 62.6% (left side) remained stable, 28.4% (right) and 29.3% (left) improved and 6.7% (right) and 8.1% (left) deteriorated. Overbite changes were found to be statistically significant, though clinically irrelevant. Overjet changes were non-significant.ConclusionsA removable expansion plate is successful in improving the transversal dental dimensions of the maxilla. Statistically significant sagittal effects on molar occlusion were found. Long-term follow-up is needed to evaluate the long-term stability of this treatment.
Healthy life expectancy by frailty state in Europe from 2004 to 2015: findings from SHARE
Authors: Nielsen Camilla Riis , Ahrenfeldt Linda Juel , Jeune Bernard , Christensen Kaare , Lindahl-Jacobsen Rune 
Published: February 2021

Abstract

Background
As populations age, the possible consequences of increased frailty are a major concern for the health sector. Here, we investigate how life expectancy with and without frailty has changed during a 10–11-year-period across Europe.

Methods
The Sullivan method was used to investigate changes in life expectancy with and without frailty in 10 European countries. Frailty status (non-frail, pre-frail and frail) was determined by use of the Survey of Health, Ageing and Retirement in Europe Frailty Instrument (SHARE-FI). Data on frailty prevalence was obtained from 21 698 individuals in wave 1 (2004–05) and 38 859 individuals in wave 6 (2015) of the SHARE. Information on mortality was obtained from the Eurostat Database.

Results
In 2015, women aged 70 spent 25.0% (95% CI: 24.0–26.1) of their remaining life expectancy in a frail state, and the number for men was 11.5% (95% CI: 10.7–12.3). Southern Europeans spent 24.2% (95% CI: 22.9–25.4) of their remaining life expectancy in a frail state and the numbers for Central Europeans and Northern Europeans were 17.0% (95% CI: 16.0–17.9) and 12.2% (95% CI: 10.9–13.5), respectively. From 2004–05 to 2015, life expectancy increased by 1.1 years (from 15.3 to 16.4 years) for 70-year-old Europeans. Similarly, non-frail life expectancy increased by 1.1 years (95% CI: 0.8–1.4), whereas no significant changes in life expectancy in frail states were observed.

Conclusions
This study suggests that Europeans today spend more years in a non-frail state than Europeans did 10–11 years ago. Our findings reflect a considerable inequality by gender and region.
Food emulsifier glycerin monostearate aggravates phthalates’ testicular toxicity by disrupting tight junctions’ barrier function in rats
Authors: Xia Lingzi , Yang Min , He Miao , Jiang Mingzhe , Qin Chang , Wei Zhijun , Gao Haitao 
Published: February 2021

Abstract

Objectives
This study aimed to investigate the effect of the widely used food emulsifier glycerin monostearate (GM) on testicular toxicity caused by the mixture of three commonly used phthalate esters (MPEs) in rats, and further to explore the underlying mechanism.

Materials and Methods
Thirty male Sprague–Dawley rats were randomly divided into three groups. Rats were orally treated with 160 mg/kg/d MPEs in the MPEs group; coinstantaneously treated with 160 mg/kg/d MPEs and 200 mg/kg/d GM in the MPEs + GM group; and treated with the excipient in the control group. The intervention lasted for 5 weeks. Testis weight, epididymis weight, testicular histopathology, and serum testosterone were detected for testicular toxicity evaluation. The testicular ultrastructure, the tight junction proteins zonula occluden (ZO)-1, and claudin were measured for the mechanism exploration.

Results
The body weight, epididymis, serum testosterone level, and anogenital distance in the MPEs + GM group were significantly decreased compared with control group (P &lt; 0.05); Testicular histopathological observation showed that shed spermatids were observed in the MPEs + GM group. Ultrastructural observation of testicular cells showed that the cristae number was decreased in some mitochondria in the MPEs group, whereas the cristae were fused and disappeared in most mitochondria in the MPEs + GM group. The tight junctions were broken in the MPEs + GM group; meanwhile, the expression of ZO-1 and claudin were altered in the MPEs + GM group (P &lt; 0.01).

Conclusions
The results from this study indicated that GM aggravated MPEs’ testicular toxicity, which might relate to the injured mitochondria and damaged tight junctions in testicular tissue.
Integration of high-density genetic mapping with transcriptome analysis uncovers numerous agronomic QTL and reveals candidate genes for the control of tillering in sorghum
Authors: Govindarajulu Rajanikanth , Hostetler Ashley N , Xiao Yuguo , Chaluvadi Srinivasa R , Mauro-Herrera Margarita , Siddoway Muriel L , Whipple Clinton , Bennetzen Jeffrey L , Devos Katrien M , Doust Andrew N , Hawkins Jennifer S 
Published: February 2021

AbstractPhenotypes such as branching, photoperiod sensitivity, and height were modified during plant domestication and crop improvement. Here, we perform quantitative trait locus (QTL) mapping of these and other agronomic traits in a recombinant inbred line (RIL) population derived from an interspecific cross between Sorghum propinquum and Sorghum bicolor inbred Tx7000. Using low-coverage Illumina sequencing and a bin-mapping approach, we generated ∼1920 bin markers spanning ∼875 cM. Phenotyping data were collected and analyzed from two field locations and one greenhouse experiment for six agronomic traits, thereby identifying a total of 30 QTL. Many of these QTL were penetrant across environments and co-mapped with major QTL identified in other studies. Other QTL uncovered new genomic regions associated with these traits, and some of these were environment-specific in their action. To further dissect the genetic underpinnings of tillering, we complemented QTL analysis with transcriptomics, identifying 6189 genes that were differentially expressed during tiller bud elongation. We identified genes such as Dormancy Associated Protein 1 (DRM1) in addition to various transcription factors that are differentially expressed in comparisons of dormant to elongating tiller buds and lie within tillering QTL, suggesting that these genes are key regulators of tiller elongation in sorghum. Our study demonstrates the usefulness of this RIL population in detecting domestication and improvement-associated genes in sorghum, thus providing a valuable resource for genetic investigation and improvement to the sorghum community.
Chromosome-level genome assembly and structural variant analysis of two laboratory yeast strains from the Peterhof Genetic Collection lineage
Authors: Barbitoff Yury A , Matveenko Andrew G , Matiiv Anton B , Maksiutenko Evgeniia M , Moskalenko Svetlana E , Drozdova Polina B , Polev Dmitrii E , Beliavskaia Alexandra Y , Danilov Lavrentii G , Predeus Alexander V , Zhouravleva Galina A 
Published: February 2021

Abstract
Thousands of yeast genomes have been sequenced with both traditional and long-read technologies, and multiple observations about modes of genome evolution for both wild and laboratory strains have been drawn from these sequences. In our study, we applied Oxford Nanopore and Illumina technologies to assemble complete genomes of two widely used members of a distinct laboratory yeast lineage, the Peterhof Genetic Collection (PGC), and investigate the structural features of these genomes including transposable element content, copy number alterations, and structural rearrangements. We identified numerous notable structural differences between genomes of PGC strains and the reference S288C strain. We discovered a substantial enrichment of mid-length insertions and deletions within repetitive coding sequences, such as in the SCH9 gene or the NUP100 gene, with possible impact of these variants on protein amyloidogenicity. High contiguity of the final assemblies allowed us to trace back the history of reciprocal unbalanced translocations between chromosomes I, VIII, IX, XI, and XVI of the PGC strains. We show that formation of hybrid alleles of the FLO genes during such chromosomal rearrangements is likely responsible for the lack of invasive growth of yeast strains. Taken together, our results highlight important features of laboratory yeast strain evolution using the power of long-read sequencing.