bluuebunny/crossref_metadata_2025 huggingface dataset:
A case report of Leigh syndrome diagnosed by endomyocardial biopsy
Authors: Maruo Yuji , Ueda Yuki , Murayama Kei , Takeda Atsuhito
Published: February 2021

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>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

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

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

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 < 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

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 (>100 vFFR cases) and a non-expert (<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

Objectives

This 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 methods

A 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.

Results

A 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.

Conclusions

A 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

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

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 < 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 < 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

Phenotypes 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

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.
Conserved and divergent aspects of Robo receptor signaling and regulation betweenDrosophilaRobo1 andC. elegansSAX-3
Authors: Daiber Trent , VanderZwan-Butler Christine J , Bashaw Greg J , Evans Timothy A
Published: February 2021

The evolutionarily conserved Roundabout (Robo) family of axon guidance receptors control midline crossing of axons in response to the midline repellant ligand Slit in bilaterian animals including insects, nematodes, and vertebrates. Despite this strong evolutionary conservation, it is unclear whether the signaling mechanism(s) downstream of Robo receptors are similarly conserved. To directly compare midline repulsive signaling in Robo family members from different species, here we use a transgenic approach to express the Robo family receptor SAX-3 from the nematode Caenorhabditis elegans in neurons of the fruit fly, Drosophila melanogaster. We examine SAX-3’s ability to repel Drosophila axons from the Slit-expressing midline in gain of function assays, and test SAX-3’s ability to substitute for Drosophila Robo1 during fly embryonic development in genetic rescue experiments. We show that C. elegans SAX-3 is properly translated and localized to neuronal axons when expressed in the Drosophila embryonic CNS, and that SAX-3 can signal midline repulsion in Drosophila embryonic neurons, although not as efficiently as Drosophila Robo1. Using a series of Robo1/SAX-3 chimeras, we show that the SAX-3 cytoplasmic domain can signal midline repulsion to the same extent as Robo1 when combined with the Robo1 ectodomain. We show that SAX-3 is not subject to endosomal sorting by the negative regulator Commissureless (Comm) in Drosophila neurons in vivo, and that peri-membrane and ectodomain sequences are both required for Comm sorting of Drosophila Robo1.
Association of GDF15 With Inflammation and Physical Function During Aging and Recovery After Acute Hospitalization: A Longitudinal Study of Older Patients and Age-Matched Controls
Authors: Tavenier Juliette , Rasmussen Line Jee Hartmann , Andersen Aino Leegaard , Houlind Morten Baltzer , Langkilde Anne , Andersen Ove , Petersen Janne , Nehlin Jan O
Published: February 2021

Growth differentiation factor 15 (GDF15) is a stress-induced cytokine. Its plasma levels increase during aging and acute illness. In older Patients and age-matched Controls, we evaluated whether GDF15 levels (i) were associated with recovery after acute illness, and (ii) reflected different trajectories of aging and longitudinal changes in health measures. Fifty-two older Patients (≥65 years) were included upon admission to the emergency department (ED). At 30 days after discharge (time of matching), Patients were matched 1:1 on age and sex with Controls who had not been hospitalized within 2 years of inclusion. Both groups were followed up after 1 year. We assessed plasma levels of GDF15 and inflammatory biomarkers, frailty, nutritional status (mini nutritional assessment short-form), physical and cognitive function, and metabolic biomarkers. In Patients, elevated GDF15 levels at ED admission were associated with poorer resolution of inflammation (soluble urokinase plasminogen activator receptor [suPAR]), slowing of gait speed, and declining nutritional status between admission and 30-day follow-up. At time of matching, Patients were frailer and overall less healthy than age-matched Controls. GDF15 levels were significantly associated with participant group, on average Patients had almost 60% higher GDF15 than age-matched Controls, and this difference was partly mediated by reduced physical function. Increases in GDF15 levels between time of matching and 1-year follow-up were associated with increases in levels of interleukin-6 in Patients, and tumor necrosis factor-α and suPAR in age-matched Controls. In older adults, elevated GDF15 levels were associated with signs of accelerated aging and with poorer recovery after acute illness.
Hypothesis tests on Rayleigh wave radiation pattern shapes: a theoretical assessment of idealized source screening
Authors: Carmichael Joshua D
Published: February 2021

Shallow seismic sources excite Rayleigh wave ground motion with azimuthally dependent radiation patterns. We place binary hypothesis tests on theoretical models of such radiation patterns to screen cylindrically symmetric sources (like explosions) from non-symmetric sources (like non-vertical dip-slip or non-VDS faults). These models for data include sources with several unknown parameters, contaminated by Gaussian noise and embedded in a layered half-space. The generalized maximum likelihood ratio tests that we derive from these data models produce screening statistics and decision rules that depend on measured, noisy ground motion at discrete sensor locations. We explicitly quantify how the screening power of these statistics increase with the size of any dip-slip and strike-slip components of the source, relative to noise (faulting signal strength) and how they vary with network geometry. As applications of our theory, we apply these tests to (1) find optimal sensor locations that maximize the probability of screening non-circular radiation patterns and (2) invert for the largest non-VDS faulting signal that could be mistakenly attributed to an explosion with damage, at a particular attribution probability. Finally, we quantify how certain errors that are sourced by opening cracks increase screening rate errors. While such theoretical solutions are ideal and require future validation, they remain important in underground explosion monitoring scenarios because they provide fundamental physical limits on the discrimination power of tests that screen explosive from non-VDS faulting sources.
Ileocolonic Healing After Extended Small Bowel Resection in Mice: NOD2 Deficiency Impairs Anastomotic Healing and Postoperative Outcome
Authors: Witte Maria , Reiner Johannes , Bannert Karen , Jaster Robert , Maschmeier Christian , Schafmayer Clemens , Lamprecht Georg , Berlin Peggy
Published: February 2021

Background

Nucleotide-binding oligomerization domain-containing protein 2 (NOD2) mutations are a genetic risk factor for Crohn disease. Ileocecal resection is the most often performed surgery in Crohn disease. We investigated the effect of Nod2 knockout (KO) status on anastomotic healing after extended ileocecal resection (ICR) in mice.

Methods

Male C57BL6/J wild-type and Nod2 KO mice underwent an 11 cm resection of the terminal ileum including the cecum. An end-to-end jejuno-colostomy was performed. Animals were killed after 5 days investigating bursting pressure, hydroxyproline content, and expression of matrix metabolism genes, key cytokines, and histology of the anastomosis.

Results

Mortality was higher in the Nod2 KO group but not because of local or septic complications. Bursting pressure was significantly reduced in the Nod2 KO mice (32.5 vs 78.0 mmHg, P < 0.0024), whereas hydroxyprolin content was equal. The amount of granulation tissue at the anastomosis was similar but more unstructured in the Nod2 KO mice. Gene expression measured by real-time polymerase chain reaction showed significantly increased expression for Collagen 1alpha and for collagen degradation as measured by matrix metalloproteinase-2, -9, and -13 in the Nod2 KO mice. Gelatinase activity from anastomotic tissue was enhanced by Nod2 status. Gene expression of arginase I, tumor necrosis factor-α, and transforming growth factor-ß but not inducible nitric oxide synthase were also increased at the anastomosis in the Nod2 KO mice compared with the control mice.

Conclusions

We found that Nod2 deficiency results in significantly reduced bursting pressure after ileocecal resection. This effect is mediated via an increased matrix turnover. Patients with genetic NOD2 variations may be prone to anastomotic failure after bowel resection.
Interannual variability of gelatinous mesozooplankton in a temperate shelf sea: greater abundance coincides with cooler sea surface temperatures
Authors: Long A P , Haberlin D , Lyashevska O , Brophy D , O’ Hea Brendan , O’Donnell C , Scarrott R G , Lawton C , Doyle T K
Published: February 2021

Although gelatinous zooplankton are an important component of marine ecosystems, gelatinous mesozooplankton that are <2 cm are underrepresented in monitoring programmes. Here, the interannual variability of gelatinous mesozooplankton abundance and diversity was estimated from 167 zooplankton net samples that were collected in the Celtic Sea during seven fisheries surveys between 2007 and 2019 and analysed alongside environmental parameters. Compositional changes occurred interannually, including an overturn in the abundance ratio of two siphonophores (Muggiaea atlantica and Agalma elegans). Analysis of annual mean gelatinous abundance revealed no linear trend over time (Spearman, r = −0.09, p = 0.287); however, the interannual abundance varied by a factor of 33 (minimum mean abundance in 2013 = 7.36 ± 4.86 individuals m−3; maximum in 2017 = 244.82 ± 84.59 individuals m−3). Holoplanktonic taxa dominated the abundance of the gelatinous community (93.27%) and their abundance was negatively associated with summer sea surface temperature (represented by the 16°C isotherm in July), and the Eastern Atlantic Pattern index 3 months prior (April). Our data suggest that gelatinous mesozooplankton in the Celtic Sea may become less abundant with further ocean warming, and further highlight the need to monitor gelatinous mesozooplankton with a high taxonomic resolution moving forward.
Effects of flavophospholipol on conjugation and plasmid curing of multidrug-resistantSalmonellaEnteritidis in broiler chickens
Authors: Lim Kelvin , Pennell Michael , Lewis Stephanie , El-Gazzar Mohamed , Gebreyes Wondwossen A
Published: February 2021

Background

Early in vitro studies suggested that flavophospholipol has plasmid-curing effects and could inhibit conjugation by disrupting pilus formation between bacteria.

Objectives

This 36-day controlled-challenge study aimed to evaluate the anti-conjugative and plasmid-curing effect of flavophospholipol in vivo on plasmid-mediated antimicrobial resistance (AMR) in MDR transconjugant Salmonella Enteritidis in chickens.

Methods

A total of 270-day-old chicks were randomly assigned to four control and four treatment groups with two doses of in-feed flavophospholipol (10 ppm and 64 ppm) and in the presence and absence of ampicillin in drinking water. Chicks were orally challenged with Salmonella Enteritidis with known plasmid-encoded AMR factors. Cloacal swabs were collected on Day 7, 14 and 23. On Day 35, all chickens were euthanized, and caecal tissue and content were collected. Antimicrobial susceptibility testing was done with a panel of 12 antimicrobials and interpreted according to CLSI breakpoints.

Results

Flavophospholipol given in-feed at 64 ppm had an anti-conjugative effect. There was a significant reduction of acquisition of resistance to ampicillin, streptomycin and tetracycline by the recipient strains of Salmonella Enteritidis in treatment groups given flavophospholipol in-feed at 64 ppm (P < 0.05). This was not seen with flavophospholipol given in-feed at 10 ppm.

Conclusions

The results demonstrate that flavophospholipol given in-feed at 64 ppm had an anti-conjugative effect. The results also suggest that AMR is reduced through other mechanisms of action, which are yet to be determined. There is insufficient evidence that flavophospholipol at 64 ppm in feed alone or with sub-therapeutic levels of antibiotics had a plasmid-curing effect.
DDIWAS: High-throughput electronic health record-based screening of drug-drug interactions
Authors: Wu Patrick , Nelson Scott D , Zhao Juan , Stone Jr Cosby A , Feng QiPing , Chen Qingxia , Larson Eric A , Li Bingshan , Cox Nancy J , Stein C Michael , Phillips Elizabeth J , Roden Dan M , Denny Joshua C , Wei Wei-Qi
Published: February 2021

Objective

We developed and evaluated Drug-Drug Interaction Wide Association Study (DDIWAS). This novel method detects potential drug-drug interactions (DDIs) by leveraging data from the electronic health record (EHR) allergy list.

Materials and Methods

To identify potential DDIs, DDIWAS scans for drug pairs that are frequently documented together on the allergy list. Using deidentified medical records, we tested 616 drugs for potential DDIs with simvastatin (a common lipid-lowering drug) and amlodipine (a common blood-pressure lowering drug). We evaluated the performance to rediscover known DDIs using existing knowledge bases and domain expert review. To validate potential novel DDIs, we manually reviewed patient charts and searched the literature.

Results

DDIWAS replicated 34 known DDIs. The positive predictive value to detect known DDIs was 0.85 and 0.86 for simvastatin and amlodipine, respectively. DDIWAS also discovered potential novel interactions between simvastatin-hydrochlorothiazide, amlodipine-omeprazole, and amlodipine-valacyclovir. A software package to conduct DDIWAS is publicly available.

Conclusions

In this proof-of-concept study, we demonstrate the value of incorporating information mined from existing allergy lists to detect DDIs in a real-world clinical setting. Since allergy lists are routinely collected in EHRs, DDIWAS has the potential to detect and validate DDI signals across institutions.
Transforming and evaluating electronic health record disease phenotyping algorithms using the OMOP common data model: a case study in heart failure
Authors: Papez Vaclav , Moinat Maxim , Payralbe Stefan , Asselbergs Folkert W , Lumbers R Thomas , Hemingway Harry , Dobson Richard , Denaxas Spiros
Published: February 2021

Objective

The aim of the study was to transform a resource of linked electronic health records (EHR) to the OMOP common data model (CDM) and evaluate the process in terms of syntactic and semantic consistency and quality when implementing disease and risk factor phenotyping algorithms.

Materials and Methods

Using heart failure (HF) as an exemplar, we represented three national EHR sources (Clinical Practice Research Datalink, Hospital Episode Statistics Admitted Patient Care, Office for National Statistics) into the OMOP CDM 5.2. We compared the original and CDM HF patient population by calculating and presenting descriptive statistics of demographics, related comorbidities, and relevant clinical biomarkers.

Results

We identified a cohort of 502 536 patients with the incident and prevalent HF and converted 1 099 195 384 rows of data from 216 581 914 encounters across three EHR sources to the OMOP CDM. The largest percentage (65%) of unmapped events was related to medication prescriptions in primary care. The average coverage of source vocabularies was >98% with the exception of laboratory tests recorded in primary care. The raw and transformed data were similar in terms of demographics and comorbidities with the largest difference observed being 3.78% in the prevalence of chronic obstructive pulmonary disease (COPD).

Conclusion

Our study demonstrated that the OMOP CDM can successfully be applied to convert EHR linked across multiple healthcare settings and represent phenotyping algorithms spanning multiple sources. Similar to previous research, challenges mapping primary care prescriptions and laboratory measurements still persist and require further work. The use of OMOP CDM in national UK EHR is a valuable research tool that can enable large-scale reproducible observational research.
Cystic lymphangioma in adult—a rare case scenario or a misdiagnosis?
Authors: Sharma J V Pranav , Kazi Farah Naaz
Published: February 2021

Cystic lymphangiomas are a rare entity in adults. It is commonly congenital due to obstruction in the lymphatic drainage. We report the case of a 45-year-old female who was admitted with complaints of a lateral neck swelling associated with multiple palpable cervical lymph nodes. Patient was evaluated and relevant investigations were carried out. Her radiological investigations reported conflicting results of lymphatic cyst, branchial cyst and infected cyst or abscess. However, after an excisional biopsy when the sample tissue was sent for histopathology, the results featured a lymphangioma, which is a rare finding in adults of this age.
A huge ovarian serous cystadenoma with situs inversus totalis: first case report
Authors: Çetin Erman , Öner Eyüp , Aday Ulaş , Güzelgül Mehmet , Gökçe Ayça Orhan
Published: February 2021

Coexistence of situs inversus totalis and ovarian serous cystadenoma in pubertal girls is extremely rare. It is important to preserve ovarian hormonal physiology and fertility if it is detected in the pubertal period.

A 16-year-old girl presented with abdominal distension and pain. Radiological evaluation revealed a huge abdominal cystic mass and situs inversus totalis. In laparotomy, unilateral salpingoophorectomy and total cystectomy were performed on the ovarian cystic mass. It was confirmed as serous cystadenoma in pathological evaluation.

This is the first reported case in the literature of situs inversus totalis with a huge ovarian serous cystadenoma.
Acute retroperitoneal hemorrhage after oocyte retrieval: a case report
Authors: Xu Yangying , Hao Cuifang , Liu Xiaoqiang , Yang Zongzhi , Sun Xianhua
Published: February 2021

A 29-year-old woman with a 5-year history of primary infertility underwent in vitro fertilization-embryo transfer (IVF-ET) treatment. Hemorrhagic shock caused by retroperitoneal hematoma after oocyte retrieval was treated promptly by the evaluation of diagnostic laparoscopy and angiography. The patient was recovered and discharged from the hospital 7 days later without any complications. She was later diagnosed with Von Willebrand disease by a hematologist.
Exploring the Feasibility of Recruiting Respondents and Collecting Web Data via Smartphone: A Case Study of Text-To-Web Recruitment for a General Population Survey in Germany
Authors: Bucher Hannah , Sand Matthias
Published: February 2021

The widespread usage of smartphones, as well as their technical features, offers many opportunities for survey research. As a result, the importance and popularity of smartphone surveys is steadily increasing. To explore the feasibility of a new text-to-web approach for surveying people directly via their smartphones, we conducted a case study in Germany in which we recruited respondents from a mobile random digit dialing sample via text messages that included a link to a web survey. We show that, although this survey approach is feasible, it is hampered by a number of issues, namely a high loss of numbers at the invitation stage, and a high rate of implicit refusals on the landing page of the survey.
Phosphorus fertilization induces nectar secretion for honeybee visitation and cross-pollination of almond trees
Authors: Karunakaran Ranjith , Yermiyahu Uri , Dag Arnon , Sperling Or
Published: February 2021

Precise phosphorus (P) application requires a mechanistic understanding of mineral effects on crop biology and physiology. Photosynthate assimilation, metabolism, and transport require phosphorylation, and we postulated that P is critical for the bloom and fruit-set of almond trees that rely on stored carbohydrate reserves. Hence, we studied the growth, physiology and carbohydrate dynamics in 2-year-old almond trees irrigated with P concentrations between 1 mg l−1 and 20 mg l−1. Almond trees attained maximal photosynthesis, transpiration, and growth by 6 mg P l−1 irrigation. Nevertheless, almond trees continued to extract P in 10 mg P l−1 and 15 mg P l−1 irrigations, which corresponded to larger yields. We attributed the augmented productivity to increased fruit-set (59% between 6 mg P l−1 and 15 mg P l−1), caused by more frequent (29%) honeybee visits. High P improved pollinator visitation by enabling almond trees to utilize more of their starch reserves for nectar secretion (which increased by ~140% between 6 mg P l−1 and 15 mg P l−1). This work elucidates the benefits of P fertilization to plant–pollinator mutualism, critical to almond productivity, and reveals novel indices for optimal P application in almond orchards.
An Analysis of Outcomes and Interventions for Female Pediatric Casualties in Iraq and Afghanistan
Authors: Gale Hannah L , Koons Natalie J , Borgman Matthew A , April Michael D , Schauer Steven G
Published: February 2021

Background

Traumatic injuries were the most common reason for admission of pediatric patients to military hospitals during the recent wars in Iraq and Afghanistan. We compare survival and interventions between female and male pediatric casualties.

Materials and Methods

This is a secondary analysis of a previously described dataset from the Department of Defense Trauma Registry. We requested pediatric encounters from January 2007 to January 2016 within Iraq and Afghanistan. We separated casualties by sex to compare injury and mortality patterns.

Results

Our initial dataset included 3439 pediatric encounters—784 (22.8%) females and 2655 (77.2%) males. Females were less likely to sustain injuries by explosive (38.0% versus 44.5%) but more likely to sustain injuries via alternative mechanisms of injury (28.9% versus 21.5%). Both sexes had similar ISS (females median 10 [5-17], males 10 [4-17]). Fewer females underwent tourniquet application (4.2% versus 7.2%; all findings were significant). In unadjusted and adjusted regression analyses, females under age 8 had lower odds of survival to hospital discharge (OR 0.67, 95% CI 0.51-0.89) compared to males.

Conclusions

Among pediatric patients treated by U.S. medical personnel in Iraq and Afghanistan, females had a lower survival to hospital discharge despite similar severity of injury. Further studies are necessary to elucidate causes for this finding.
Shatter or not: role of temperature and metallicity in the evolution of thermal instability
Authors: Das Hitesh Kishore , Choudhury Prakriti Pal , Sharma Prateek
Published: February 2021

We test how metallicity variation (a background gradient and fluctuations) affects the physics of local thermal instability using analytical calculations and idealized, high-resolution 1D hydrodynamic simulations. Although the cooling function (Λ[T, Z]) and the cooling time (tcool) depend on gas temperature and metallicity, we find that the growth rate of thermal instability is explicitly dependent only on the derivative of the cooling function relative to temperature (∂ln Λ/∂ln T) and not on the metallicity derivative (∂ln Λ/∂ln Z). For most of 104 K ≲ T ≲ 107 K, both the isobaric and isochoric modes (occurring at scales smaller and larger than the sonic length covered in a cooling time [cstcool], respectively) grow linearly, and at higher temperatures (≳107 K) the isochoric modes are stable. We show that even the non-linear evolution depends on whether the isochoric modes are linearly stable or unstable. For the stable isochoric modes, we observe the growth of small-scale isobaric modes but this is distinct from the non-linear fragmentation of a dense cooling region. For unstable isochoric perturbations we do not observe large density perturbations at small scales. While very small clouds (∼min[cstcool]) form in the transient state of non-linear evolution of the stable isochoric thermal instability, most of them merge eventually.
Is the Dinoflagellate Amoebophrya Really Missing an mtDNA?
Authors: Kayal Ehsan , Smith David R
Published: February 2021

Mitochondrial DNA (mtDNA) is a universal hallmark of aerobic eukaryotes. That is why the recent suggestion by John et al. (2019. An aerobic eukaryotic parasite with functional mitochondria that likely lacks a mitochondrial genome. Sci Adv. 5(4):eaav1110.) that the aerobic dinoflagellate Amoebophrya sp. strain AT5 (Syndiniales) lacks mtDNA was so remarkable. Here, by reanalyzing recently published genomic and transcriptomic data from three Amoebophrya strains, we provide evidence of a cryptic, highly reduced mtDNA in this clade. More work is needed before one can definitively say if Amoebophrya has or does not have an mtDNA, but for now, the data are pointing toward the existence of one. Ultimately, we urge caution when basing supposedly absent genomic features on single line evidences.
Systematic Detection of Large-Scale Multigene Horizontal Transfer in Prokaryotes
Authors: Kloub Lina , Gosselin Sophia , Fullmer Matthew , Graf Joerg , Gogarten Johann Peter , Bansal Mukul S
Published: February 2021

Horizontal gene transfer (HGT) is central to prokaryotic evolution. However, little is known about the “scale” of individual HGT events. In this work, we introduce the first computational framework to help answer the following fundamental question: How often does more than one gene get horizontally transferred in a single HGT event? Our method, called HoMer, uses phylogenetic reconciliation to infer single-gene HGT events across a given set of species/strains, employs several techniques to account for inference error and uncertainty, combines that information with gene order information from extant genomes, and uses statistical analysis to identify candidate horizontal multigene transfers (HMGTs) in both extant and ancestral species/strains. HoMer is highly scalable and can be easily used to infer HMGTs across hundreds of genomes. We apply HoMer to a genome-scale data set of over 22,000 gene families from 103 Aeromonas genomes and identify a large number of plausible HMGTs of various scales at both small and large phylogenetic distances. Analysis of these HMGTs reveals interesting relationships between gene function, phylogenetic distance, and frequency of multigene transfer. Among other insights, we find that 1) the observed relative frequency of HMGT increases as divergence between genomes increases, 2) HMGTs often have conserved gene functions, and 3) rare genes are frequently acquired through HMGT. We also analyze in detail HMGTs involving the zonula occludens toxin and type III secretion systems. By enabling the systematic inference of HMGTs on a large scale, HoMer will facilitate a more accurate and more complete understanding of HGT and microbial evolution.
A Location-Based Outcome Analysis of the Most Common Microsurgically Clipped Cerebral Aneurysms: A Single-Center Experience
Authors: Nisson Peyton L , Meybodi Ali Tayebi , Berger Garrett K , Thompson Austen , Morshed Ramin A , Lawton Michael T
Published: February 2021

BACKGROUND

Intracranial aneurysms of the anterior communicating artery (AComA), posterior communicating artery (PComA), and the middle cerebral artery (MCA) comprise the majority of all aneurysms encountered and treated by vascular neurosurgeons.

OBJECTIVE

To analyze and compare outcomes between these locations using multivariable logistic regression and to assess what clinical features may differ between them.

METHODS

Solitary aneurysms microsurgically clipped by the senior author were included from a prospective database of patients treated between January 2010 and April 2013 at a tertiary academic medical center. Neurological status was assessed using the modified Rankin Scale (mRS). Neurological outcomes were dichotomized, with mRS scores 0-2 considered “good” and 3-6 considered “poor.”

RESULTS

A total of 196 patients were treated; 69 aneurysms were located at the MCA, 77 at the AComA, and 50 at the PComA. A total of 48% (97/196) of patients presented with a ruptured aneurysm and 14% (25/180) were considered large. PComA was more commonly presented as a ruptured aneurysm (64%) compared to AComA (56%) and MCA (28%) (P ≤ .001), and when ruptured, PComA aneurysms were 1.6 times more likely to experience a favorable outcome compared to MCA aneurysms (P = .01). Regression analysis revealed PComA was associated with a lower risk for poor outcomes (odds ratio [OR] 0.19, P = .01) controlling for age, presentation type, and vasospasm.

CONCLUSION

Patients who underwent microsurgical clipping of ruptured PComA aneurysms experienced significantly better outcomes, while those with MCA aneurysms suffered the worst. Further investigation on this topic and the potential reasons that may account for these differences is warranted.