Search

Aortic coarctation (COA) is frequent congenital heart disease. It can be difficult to assess the indication for intervention or re-intervention in some cases. Exercise stress echocardiography (ESE) can be helpful for hemodynamic evaluation in patients with COA or reCOA. We aimed to determine ESE parameters predictive of intervention (angioplasty or surgery). We retrospectively reviewed 94 ESE performed in children (n = 14) and adults with native or repaired CoA and unclear indication for intervention in three centers in France. Exercise test was performed concomitantly to echocardiography on the e-bike in semi-lying position. The protocol was adapted according to the age and the physical condition. Echocardiography protocol included left ventricular adaptation (LVA) to effort and peak systolic gradient (PSG) at isthmus and appearance of diastolic tail during effort. We investigated risk marker associated with subsequent indication for intervention. Median age (min–max) was 26 years (10–72). Intervention was subsequently performed in thirteen patients (14.7%). Fifty-six patients (60.2%) had simple COA and 37 (39.8%) had complex anatomy, 24 (25%) had hypertension. Poor LVA was present in 13 (14%). Diastolic tail during effort appeared in 65 cases. The mean pic isthmus gradient 50 ± 21 mmHg (min: 15; max: 124). Poor LVA was associated with more interventions (log-rank, P = 0.004) (Fig. 1). On univariate analysis presence of antihypertensive drugs (HR: 4.13, 95% CI [1.35–12.65]; P = 0.013), systolic blood pressure at rest (HR: 1.04, 95% CI [1.011–1.072]; P = 0.007); the lower exercise power (Watts) (HR: 0.98; 95% CI [0.96–0.99]; P = 0.001); poor LVA (HR: 5.95, 95% CI [1.56–22.65]; P = 0.009); peak systolic gradient at rest and on effort at isthmus (HR: 1.06, 95% CI [1.03–1.10] and HR: 1.04, 95% CI [1.02–1.06]) were significantly predictive of interventions (Table 1). ESE is a useful tool for hemodynamic evaluation of COA. More severe forms that needed intervention showed less well adaption of the LV to effort and increase in the cardiac output and afterload. [ABSTRACT FROM AUTHOR]

Objetivo. Detectar anomalías cromosómicas que afectan tanto el número de cromosomas como su estructura para definir la etiología de la enfermedad permitiéndole al clínico establecer posteriores planes de manejo y asesoramiento genético. Materiales y métodos. Para reconocer y detectar variaciones inusuales en la morfología cromosómica, se aplican distintas técnicas de cultivo celular y bandeo cromosómico. Entre ellas el laboratorio de citogenética de la Universidad Nacional presta el servicio de: Cariotipo convencional bandeo C y G, Cariotipo de alta resolución cromosómica con bandeo Q, G y R, Cariotipo para evaluación de fragilidad cromosómica del cromosoma X, Cariotipo para evaluación de fragilidad cromosómica en presencia de mitomicina C (MMC), Cariotipo para evaluación de estados leucémicos (cromosoma Philadelphia), Cariotipo de líquido amniótico. Resultados. Entre 2005 y 2013 se han atendido aproximadamente 3000 pacientes que gracias a los diagnósticos citogenéticos realizados por medio de técnicas citogenéticas convencionales y moleculares y a la unión con estrategias de prevención primordial y primaria (asesoría preconcepcional, diagnostico y tamizaje prenatal y neonatal), secundaria (diagnóstico oportuno) y terciaria (guías de manejo anticipatorio) se ha comprobado la mejora en la mortalidad, morbilidad, discapacidad, reducción en costos de aseguramiento y promoción de una mejoría en la calidad de vida de los pacientes, sus familias y los perfiles en salud de la comunidad. Conclusiones. El acceso a los servicios de análisis citogenético ha permitido detectar anomalías y desarrollar estrategias de manejo adecuadas para los pacientes atendidos y ha servido de base para la investigación y la enseñanza en la institución.

Background: A core feature of body dysmorphic disorder (BDD) is body image disturbance. Many with BDD misperceive and are dissatisfied with the sizes and shapes of body parts, but detailed quantification and analysis of this has not yet been performed. To address this gap, we applied Somatomap 3D, a digital avatar tool, to quantify body image disturbances by assessing body size estimation (BSE) accuracy and body dissatisfaction., Methods: Sixty-one adults (31 with BDD, 30 healthy controls) created avatars to reflect their perceived current body and ideal body by altering 23 body part sizes and lengths using Somatomap 3D. Physical measurements of corresponding body parts were recorded for comparison. BSE accuracy (current minus actual) and body dissatisfaction (ideal minus current) were compared between groups and in relation to BDD symptom severity using generalized estimating equations., Results: Individuals with BDD significantly over- and under-estimated certain body parts compared to healthy controls. Individuals with BDD overall desired significantly thinner body parts compared to healthy controls. Moreover, those with worse BSE accuracy had greater body dissatisfaction and poorer insight., Conclusion: In sum, this digital avatar tool revealed disturbances in body image in individuals with BDD that may have perceptual and cognitive/affective components., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024 The Authors. Published by Elsevier Inc. All rights reserved.)

Across the life sciences, an ongoing effort over the last 50 years has made data and methods more reproducible and transparent. This openness has led to transformative insights and vastly accelerated scientific progress 1,2 . For example, structural biology 3 and genomics 4,5 have undertaken systematic collection and publication of protein sequences and structures over the past half-century, and these data have led to scientific breakthroughs that were unthinkable when data collection first began (e.g. 6 ). We believe that neuroscience is poised to follow the same path, and that principles of open data and open science will transform our understanding of the nervous system in ways that are impossible to predict at the moment. To this end, new social structures along with active and open scientific communities are essential 7 to facilitate and expand the still limited adoption of open science practices in our field 8 . Unified by shared values of openness, we set out to organize a symposium for Open Data in Neuroscience (ODIN) to strengthen our community and facilitate transformative neuroscience research at large. In this report, we share what we learned during this first ODIN event. We also lay out plans for how to grow this movement, document emerging conversations, and propose a path toward a better and more transparent science of tomorrow.

We develop a data harmonization approach for C. elegans volumetric microscopy data, still or video, consisting of a standardized format, data pre-processing techniques, and a set of human-in-the-loop machine learning based analysis software tools. We unify a diverse collection of 118 whole-brain neural activity imaging datasets from 5 labs, storing these and accompanying tools in an online repository called WormID (wormid.org). We use this repository to train three existing automated cell identification algorithms to, for the first time, enable accuracy in neural identification that generalizes across labs, approaching human performance in some cases. We mine this repository to identify factors that influence the developmental positioning of neurons. To facilitate communal use of this repository, we created open-source software, code, web-based tools, and tutorials to explore and curate datasets for contribution to the scientific community. This repository provides a growing resource for experimentalists, theorists, and toolmakers to (a) study neuroanatomical organization and neural activity across diverse experimental paradigms, (b) develop and benchmark algorithms for automated neuron detection, segmentation, cell identification, tracking, and activity extraction, and (c) inform models of neurobiological development and function.

Anorexia nervosa is an often-severe psychiatric illness characterized by significantly low body weight, fear of gaining weight, and distorted body image. Multiple neuroimaging studies have shown abnormalities in cortical morphology, mostly associated with the starvation state. Investigations of white matter, while more limited in number, have suggested global and regional volume reductions, as well as abnormal diffusivity in multiple regions including the corpus callosum. Yet, no study has specifically examined thickness of the corpus callosum, a large white matter tract instrumental in the inter-hemispheric integration of sensory, motor, and cognitive information. We analyzed MRI data from 48 adolescents and adults with anorexia nervosa and 50 healthy controls, all girls/women, to compare corpus callosum thickness and examined relationships with body mass index (BMI), illness duration, and eating disorder symptoms (controlling for BMI). There were no significant group differences in corpus callosum thickness. In the anorexia nervosa group, severity of body shape concerns was significantly, positively correlated with callosal thickness in the rostrum, genu, rostral body, isthmus, and splenium. In addition, there were significant positive correlations between eating disorder-related obsessions and compulsions and thickness of the anterior midbody, rostral body, and splenium. There were no significant associations between callosal thickness and BMI or illness duration. In sum, those with AN with worse concerns about bodily appearance and worse eating disorder-related obsessive thought patterns and compulsive behaviours have regionally thicker corpus callosum, independent of current weight status. These findings provide important neurobiological links to key, specific eating disorder behavioural phenotypes., (© 2024. The Author(s).)

Orthogonal separation techniques coupled to high-resolution mass spectrometry are required for characterizing the human lipidome, given its inherent chemical and structural complexity. However, electrophoretic separations remain largely unrecognized in contemporary lipidomics research compared to established chromatographic and ion mobility methods. Herein, we introduce a novel derivatization protocol based on 3-methyl-1- p -tolyltriazene (MTT) as a safer alternative to diazomethane for quantitative phospholipid (PL) methylation (∼90%), which enables their rapid analysis by multisegment injection-nonaqueous capillary electrophoresis-mass spectrometry (MSI-NACE-MS). Isobaric interferences and ion suppression effects were minimized by performing an initial reaction using 9-fluorenylmethyoxycarbonyl chloride prior to MTT and a subsequent back extraction in hexane. This charge-switch derivatization strategy expands lipidome coverage when using MSI-NACE-MS under positive ion mode with improved resolution, greater sensitivity, and higher throughput (∼3.5 min/sample), notably for zwitterionic PLs that are analyzed as their cationic phosphate methyl esters. Our method was validated by analyzing methyl- tert -butyl ether extracts of reference human plasma, which enabled a direct comparison of 48 phosphatidylcholine and 27 sphingomyelin species previously reported in an interlaboratory lipidomics harmonization study. The potential for plasma PL quantification by MSI-NACE-MS via a serial dilution of NIST SRM-1950 was also demonstrated based on estimation of relative response factors using their reported consensus concentrations. Moreover, lipid identification was supported by modeling predictable changes in the electrophoretic mobility for cationic PLs in conjunction with MS/MS. Overall, this work offers a practical derivatization protocol to expand lipidome coverage in CE-MS beyond the analysis of hydrophilic/polar metabolites under aqueous buffer conditions.

Mycetomas are endemic diseases in tropical and sub-tropical countries of Africa, Asia and America, mainly affecting rural populations living below the poverty line. We report a particular case of a mycetoma associated with pregnancy whose evolution was good, but at the cost of significant financial expenses. This was a 39-year-old woman who developed a fungal mycetoma due to Madurella mycetomatis from the ingunocrural region. The patient had to develop several previous pregnancies on this site of mycetoma, the outcome of which was favorable. The last pregnancy was accompanied by an aggravation of the mycetoma in the form of polyfistulized inflammatory swelling of the right inguino-crural region emitting black grains. Magnetic Resonance Imaging (MRI) of the region showed invasion of the adductor muscles at the level of the root of the thigh on its antero-internal side with no sign of pelvic extension or underlying bone lesion. The patient was treated by surgery associated with antifungal treatment. The evolution was favorable for pregnancy and mycetoma., Competing Interests: The authors have declared that no competing interests exist., (Copyright: © 2023 Ndour et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.)

Optimal dietary intake of omega-3 long-chain polyunsaturated fatty acids (n3-LCPUFAs) is critical to human health across the lifespan. However, omega-3 index (O3I) determination is not routinely assessed due to complicated procedures for n3-LCPUFA analysis from the phospholipid (PL) fraction of erythrocytes. Herein, a high-throughput method for lipidomics based on multisegment injection-nonaqueous capillary electrophoresis-mass spectrometry was applied to identify circulating PLs as surrogate biomarkers of O3I in two randomized placebo-controlled trials. An untargeted lipidomic data workflow using a subgroup analysis of serum extracts from sunflower oil versus high-dose fish oil (FO)-supplemented participants revealed that ingested n3-LCPUFAs were primarily distributed as their phosphatidylcholines (PCs) relative to other PL classes. In both high-dose FO (5.0 g/day) and EPA-only trials (3.0 g/day), PC (16:0_20:5) was the most responsive PL, whereas PC (16:0_22:6) was selective to DHA-only supplementation. We also demonstrated that the sum concentration of both these PCs in fasting serum or plasma samples was positively correlated to the O3I following FO (r = 0.708, P = 1.02 × 10 -11 , n = 69) and EPA- or DHA-only supplementation (r = 0.768, P = 1.01 × 10 -33 , n = 167). Overall, DHA was more effective in improving the O3I (ΔO3I = 4.90 ± 1.33%) compared to EPA (ΔO3I = 2.99 ± 1.19%) in young Canadian adults who had a poor nutritional status with an O3I (3.50 ± 0.68%) at baseline. Our method enables the rapid assessment of the O3I by directly measuring two circulating PC species in small volumes of blood, which may facilitate screening applications for population and precision health., Competing Interests: Conflict of interest S. M. P. reports grants or research contracts from the US National Dairy Council, Canadian Institutes for Health Research, Dairy Farmers of Canada, Roquette Freres, Ontario Centre of Innovation, Nestle Health Sciences, Myos, National Science and Engineering Research Council, and the US NIH during the conduct of the study; personal fees from Nestle Health Sciences, nonfinancial support from Enhanced Recovery, outside the submitted work. S. M. P. has patents licensed to Exerkine but reports no financial gains from any patent or related work. All other authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2023 The Authors. Published by Elsevier Inc. All rights reserved.)

Background: Individuals with body dysmorphic disorder (BDD) misperceive that they have prominent defects in their appearance, resulting in preoccupations, time-consuming rituals, and distress. Previous neuroimaging studies have found abnormal activation patterns in the extrastriate visual cortex, which may underlie experiences of distorted perception of appearance. Correspondingly, we investigated gray matter volumes in individuals with BDD in the early extrastriate visual cortex using cytoarchitectonically defined maps that were previously derived from postmortem brains., Methods: We analyzed T1-weighted magnetic resonance imaging data from 133 unmedicated male and female participants (BDD: n = 65; healthy control subjects: n = 68). We used cytoarchitectonically defined probability maps for the early extrastriate cortex, consisting of areas corresponding to V2, V3d, V3v/VP, V3a, and V4v. Gray matter volumes were compared between groups, supplemented by testing associations with clinical symptoms., Results: The BDD group exhibited significantly larger gray matter volumes in the left and right early extrastriate cortex. Region-specific follow-up analyses revealed multiple subregions showing larger volumes in BDD, significant in the left V4v. There were no significant associations after corrections for multiple comparisons between gray matter volumes in early extrastriate cortex and BDD symptoms, comorbid symptoms, or duration of illness., Conclusions: Greater volumes of the early extrastriate visual cortex were evident in those with BDD, which aligns with outcomes of prior studies revealing BDD-specific functional abnormalities in these regions. Enlarged volumes of the extrastriate cortex in BDD might manifest during neurodevelopment, which could predispose individuals to aberrant visual perception and contribute to the core phenotype of distortion of perception for appearance., (Copyright © 2021 Society of Biological Psychiatry. Published by Elsevier Inc. All rights reserved.)

Anorexia nervosa (AN) is characterized by low body weight, fear of gaining weight, and distorted body image. Anxiety may play a role in the formation and course of the illness, especially related to situations involving food, eating, weight, and body image. To understand distributed patterns and consistency of neural responses related to anxiety, we enrolled 25 female adolescents with AN and 22 non-clinical female adolescents with mild anxiety who underwent two fMRI sessions in which they saw personalized anxiety-provoking word stimuli and neutral words. Consistency in brain response patterns across trials was determined using a multivariate representational similarity analysis (RSA) approach within anxiety circuits and in a whole-brain voxel-wise searchlight analysis. In the AN group there was higher representational similarity for anxiety-provoking compared with neutral stimuli predominantly in prefrontal regions including the frontal pole, medial prefrontal cortex, dorsolateral prefrontal cortex, and medial orbitofrontal cortex, although no significant group differences. Severity of anxiety correlated with consistency of brain responses within anxiety circuits and in cortical and subcortical regions including the frontal pole, middle frontal gyrus, orbitofrontal cortex, thalamus, lateral occipital cortex, middle temporal gyrus, and cerebellum. Higher consistency of activation in those with more severe anxiety symptoms suggests the possibility of a greater degree of conditioned brain responses evoked by personally-relevant emotional stimuli. Anxiety elicited by disorder-related stimuli may activate stereotyped, previously-learned neural responses within- and outside of classical anxiety circuits. Results have implications for understanding consistent and automatic responding to environmental stimuli that may play a role in maintenance of AN., (© 2023. Springer Nature Limited.)

Purpose: Although prognostic factors of spinal multiple myeloma (MM) seem to differ from those of other spine metastases (SpM), the data in the literature remains scarce., Methods: A prospective population of 361 patients treated for spine MM lesions between January 2014 and 2017., Results: OS for our series was 59.6 months (SD 6.0 months; CI 95%: 47.7-71.3). Cox multivariate proportional-hazards analysis showed that bone marrow transplant [HR: 0.390, 95% CI 0.264-0.577; p < 0.0001] and light-chain isotype [HR: 0.748, 95% CI 0.318-1.759; p = 0.005] were independent predictors of longer survival. In contrast, age >80 years [HR: 2.7, 95% CI 1.6-4.3; p < 0.0001], ISS III [HR: 2.510, 95% CI 2.01-3.124; p = 0.001], IgA isotype [HR: 1.475, 95% CI 1.031-2.11; p = 0.034] and IgD/M isotype [HR: 2.753, 95% CI 1.230-6.130; p = 0.013] were independent poor prognostic factors. However, ECOG (p = 0.486), spine surgery (p = 0.391), spine radiotherapy (p = 0.260), epidural involvement (p = 0.259), the number of vertebra lesions (p = 0.222), and synchronous/metachronous timeline (p = 0.412) were not significantly associated with improved OS., Conclusions: Spinal involvement in the context of MM does not influence OS. The main prognostic factors to consider before spinal surgery are the characteristics of the primary MM disease (ISS score, IgG isotype and systemic treatment)., Competing Interests: Declaration of competing interest The authors declare that they have no personal conflicts of interest and no institutional or financial interest in any drugs, materials, or devices described in this manuscript. The authors have no financial disclosures to report. In addition, all patients gave their informed consent for any medical and scientific investigations. This paper has not been published previously, is not under consideration for publication elsewhere, and we acknowledge that, if accepted, this paper will not be published elsewhere in the same form, in English or in any other language, without the written consent of the publisher., (Copyright © 2023 Elsevier Ltd. All rights reserved.)

Background Quality of Life (QoL) is a prognostic factor in heart failure (HF) of patients with acquired cardiac disease. The aim of this study was to determine the predictive value of QoL on outcomes in adults with congenital heart disease (ACHD) and HF. Methods and Results Quality of life of 196 adults with congenital heart disease with clinical heart failure (HF) (mean age: 44.3±13.8 years; 51% male; 56% with complex congenital heart disease; 47% New York Heart Association class III/IV) included in the prospective multicentric registry FRESH-ACHD (French Survey on Heart Failure-Adult with Congenital Heart Disease) was assessed using the 36-Item Short Form Survey (SF-36), a patient-reported survey. The primary end point was defined by all-cause death, HF-related hospitalization, heart transplantation, and mechanical circulatory support. At 12 months, 28 (14%) patients reached the combined end point. Patients with low quality of life experienced major adverse events more frequently (logrank P =0.013). On univariate analysis, lower score at physical functioning (hazard ratio [HR], 0.98 [95% CI, 0.97-0.99]; P =0.008), role limitations related to physical health (HR, 0.98 [95% CI, 0.97-0.99]; P =0.008), and general health dimensions of the SF-36 (HR, 0.97 [95% CI, 0.95-0.99]; P =0.002) were significantly predictive of cardiovascular events. However, after multivariable analysis, SF-36 dimensions were no longer significantly associated with the primary end point. Conclusions Patients with congenital heart disease with HF and poor quality of life experience severe events more frequently, making quality of life assessment and rehabilitation programs essential to alter their trajectory.