tbuckley/cabot-search huggingface dataset:
Abstract 11683: Physiologic Crosstalk Between Circulating Renin-angiotensin and Natriuretic Peptide Systems in Humans: Implication for Cardiorenal Diseases
Authors: Xiao Ma, Seethalakshmi R Iyer, Valentina Cannone, Jeson Sangaralingham, John C Burnett
Journal: Circulation (2019)

Introduction: Cardiorenal homeostasis is regulated by the renin-angiotensin (RAS) and natriuretic peptide systems (NPS), which function respectively through renin-induced angiotensin II (ANG II) fo...
Diffuse Large B-cell Lymphoma
Authors: Hiroki Sakurada, Sho Koyasu, Akihiko Sugimoto, Etsuro Nakanishi, Yuji Nakamoto
Journal: Clinical Nuclear Medicine (2021)

A 77-year-old man with parkinsonism was referred to the department of neurology for further examination. Cardiac 123I-MIBG scintigraphy unexpectedly showed strong uptake in the left shoulder, suggestive of MIBG-avid tumors including paraganglioma. MRI revealed multiple nodules suggestive of lymphoma. A biopsy was performed, which led to the pathological diagnosis of diffuse large B-cell lymphoma. Cardiac MIBG scintigraphy sometimes shows unexpected findings outside the mediastinum. In addition, lymphoma should also be added to the list of differential diagnoses for MIBG-positive tumors.
Assessment of Underpayment for Inpatient Care at Children’s Hospitals
Authors: Paige VonAchen, Dipika Gaur, Walter Wickremasinghe, Matt Hall, Denise M. Goodman, Rishi Agrawal, Jay G. Berry
Journal: JAMA Pediatrics (2021)

Discussion | In this study, which is to our knowledge the first to longitudinally examine sexual identity and sexual contact in a nationally representative sample of high school students, an increase was noted for nonheterosexual identity but not same-sex sexual contact.However, it is unclear to what extent this increase reflects a change in the true prevalence of nonheterosexual sexual identities or whether the observed increase was in part because of increased comfort with selfdisclosure.In terms of additional limitations, the YRBS questionnaire never explicitly defined the term sexual contact 4 and failed to adequately distinguish between same-sex and samegender sexual contact. 5Moreover, some participants may have responded to the question assessing sex with their gender identity, leading to the incorrect classification of same-sex sexual contact.Furthermore, some youths in sexual minority groups may have felt their identity was not represented by the available responses to the question regarding sexual identity.Additionally, adolescents may have underreported nonheterosexual sexual identities and same-sex sexual contact because of persistent stigma associated with sensitive topics such as sexual identity. 6lthough the YRBS measures are imperfect, the apparent increase in nonheterosexual identity among youth in the US calls for greater vigilance among health care professionals regarding the heightened risks faced by these youths, such as bullying and mental health challenges.
Massively parallel functional photoacoustic computed tomography of the human brain
Authors: Shuai Na, Jonathan J. Russin, Li Lin, Xiaoyun Yuan, Peng Hu, Kay B. Jann, Lirong Yan, Konstantin Maslov, Junhui Shi, Danny J. Wang, Charles Y. Liu, Lihong V. Wang
Journal: Nature Biomedical Engineering (2021)
POS0294 PROFILE OF SPINAL TUMORS IN RHEUMATOLOGY DEPARTMENTS
Authors: B. A. Hiba, H. Sahli, S. Boussaid, S. Nouicer, S. Jemmali, S. Rekik, M. Eleuch
Journal: Annals of the Rheumatic Diseases (2021)

Background: Spine tumors remain a hot topic because of their associated morbidity by affecting motor and sensory function. Contrary to metastatic spine disease (MSD), extremely prevalent, rise within or surrounding the spinal cord and/or vertebral column, primary spinal tumors are rare, 5% of all primary skeletal tumors and frequently benign (20%). The diagnostic delay of these tumors, even when benign, is associated with a poor prognosis. Establishing the correct diagnosis is heavily reliant on magnetic resonance imaging and histological confirmation. Objectives: to provide an overview of the epidemiology, radiological and histopathological of spinal tumors diagnosed in a rheumatology department. Methods: A retrospective study consisting of clinical characteristics analysis, laboratory and x-ray examinations, was performed on 40 patients who were hospitalised for a spinal tumor, in a rheumatology department, over 5-year period from 2015 to 2020. Results: A total of 40 patients with a mean age of 66 ± 13.5 years [18-93] and a sex-ratio of 1.1, were included. The most common initial complaints were inflammatory back pain (67.5%) and fatigue (52.5%), with a median duration of 5 months. Physical examination abnormalities included lumbar stiffness (32.5%), radicular signs (18.7%), hepatomegaly (12.5%), and lymphadenopathy (17.5%). Neurological deficit was found in only 3 patients (7.5%). Hypercalcemia (corrected serum calcium &gt; 105 mg/l), and anemia (hemoglobin (Hb) &lt; 100 g/l in female, Hb &lt;110g/l in male) were present initially in respectively 47.5% and 46.3% patients, while biological inflammatory syndrome was present in 89.7% patients (median C-reactive protein of 44.7). Tumor markers were performed in 12 patients and they were positive in 9 of them. Plain radiographs findings were vertebral compression fractures (43.6%), osteolytic lesions (30.8%) and osteoblastic lesions (12.5%). Lumbar spine was the most affected (57.5%), followed by the dorsal spine (45%). Magnetic resonance imaging (MRI) was performed in 55%, and the most common lesion was low signal intensity on T1-weighted sequences and high signal intensity on T2-weighted sequences (68.1%). In our study, only one patient was diagnosed for a myxopapillary ependymoma, a benign primary spinal tumor characterised by a metastatic dissemination risk. For the rest (39 patients), the diagnosis of bone metastasis, multiple myeloma (57.7%), and of solid tumor cancers (40%), were established. Primary cancers were mainly prostate cancer (37.5%), lung cancer (18.7%) and kidney cancer (18.7%). By a median follow-up time of 25 months, overall survival rate was 30%. Conclusion: Extradural lesions are the most common, and are typically metastatic. Special attention should be pain to the patient’s medical history and laboratory abnormalities. In fact, an early diagnosis requires a high index of clinical suspicion. Disclosure of Interests: None declared
Evaluation of Crizotinib Treatment in a Patient With Unresectable <i>GOPC-ROS1</i> Fusion Agminated Spitz Nevi
Authors: Susan J. Robertson, Lisa Orme, Rodrigo Teixeira, Maryam Shamassi, Felicity Newell, Ann-Marie Patch, Iwei Yeh, Grace Gard, James Wilmott, Louise Jackett, Philip LeBoit, Andrew Fellowes, Grant MacArthur, Stephen Fox, Nicholas K. Hayward, Boris Bastian, Richard Scolyer, Nicola Waddell, Anthony Penington, Mark Shackleton
Journal: JAMA Dermatology (2021)

Spitz nevi are benign melanocytic neoplasms that classically present in childhood. Isolated Spitz nevi have been associated with oncogenic gene fusions in approximately 50% of cases. The rare agminated variant of Spitz nevi, thought to arise from cutaneous genetic mosaicism, is characterized by development of clusters of multiple lesions in a segmental distribution, which can complicate surgical removal. Somatic single-nucleotide variants in the HRAS oncogene have been described in agminated Spitz nevi, most of which were associated with an underlying nevus spilus. The use of targeted medical therapy for agminated Spitz nevi is not well understood.A girl aged 30 months presented with facial agminated Spitz nevi that recurred rapidly and extensively after surgery. Owing to the morbidity of further surgery, referral was made to a molecular tumor board. The patient's archival nevus tissue was submitted for extended immunohistochemical analysis and genetic sequencing. Strong ROS1 protein expression was identified by immunohistochemistry. Consistent with this, analysis of whole-genome sequencing data revealed GOPC-ROS1 fusions. These results indicated likely benefit from the oral tyrosine kinase inhibitor crizotinib, which was administered at a dosage of 280 mg/m2 twice daily. An excellent response was observed in all lesions within 5 weeks, with complete flattening after 20 weeks.Given the response following crizotinib treatment observed in this case, the kinase fusion was believed to be functionally consequential in the patient's agminated Spitz nevi and likely the driver mutational event for growth of her nevi. The repurposing of crizotinib for GOPC-ROS1 Spitz nevi defines a new treatment option for these lesions, particularly in cases for which surgery is relatively contraindicated.
Inferring Genome-Wide Correlations of Mutation Fitness Effects between Populations
Authors: Xin Huang, Alyssa Lyn Fortier, Alec J Coffman, Travis J Struck, Megan N Irby, Jennifer E James, José E León-Burguete, Aaron P Ragsdale, Ryan N Gutenkunst
Journal: Molecular Biology and Evolution (2021)

The effect of a mutation on fitness may differ between populations depending on environmental and genetic context, but little is known about the factors that underlie such differences. To quantify genome-wide correlations in mutation fitness effects, we developed a novel concept called a joint distribution of fitness effects (DFE) between populations. We then proposed a new statistic w to measure the DFE correlation between populations. Using simulation, we showed that inferring the DFE correlation from the joint allele frequency spectrum is statistically precise and robust. Using population genomic data, we inferred DFE correlations of populations in humans, Drosophila melanogaster, and wild tomatoes. In these species, we found that the overall correlation of the joint DFE was inversely related to genetic differentiation. In humans and D. melanogaster, deleterious mutations had a lower DFE correlation than tolerated mutations, indicating a complex joint DFE. Altogether, the DFE correlation can be reliably inferred, and it offers extensive insight into the genetics of population divergence.
AB0886-HPR ASSESSMENT OF SEASONAL VARIATIONS ON CHRONIC INFLAMMATORY RHEUMATISMS ACTIVITY
Authors: O. Hamdi, M. Sellami, S. Miladi, A. Fazaa, L. Souabni, K. Ouenniche, S. Kassab, S. Chekili, K. Ben Abdelghani, A. Laatar
Journal: Annals of the Rheumatic Diseases (2021)

Background: Although rheumatoid arthritis (RA) and spondyloarthritis (SA) activities have been described to vary under the influence of several factors, little is known about the influence of seasonality on the activity of chronic inflammatory rheumatisms. Objectives: To assess the influence of seasonality on the activity of chronic inflammatory rheumatisms. Methods: We conducted a cross-sectional study involving patients with RA (2010 ACR/EULAR criteria) and SA (2009 ASAS criteria). Chronic inflammatory rheumatisms activity was assessed during the summer (June-September) and winter (December-February) using clinical parameters including the Patient’s Global Assessment of disease activity (PGA), 10-cm Visual Analog Scale (VAS) pain score, morning stiffness, nocturnal awakenings, and joint count for RA (tender joint count (TJC) and swollen joint count (SJC)); biological parameters including erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP); disease activity scores including the SDAI, CDAI and DAS 28 for RA, BASDAI and ASDAS CRP for SA. An analysis of variance (ANOVA) was used to assess the statistical relationship between seasonality and rheumatisms activities. Results: We enrolled 175 patients (100 RA and 75 SA) with a sex ratio of 0.5 and a mean age of 57.75 ± 10.53 years [23-83]. The mean chronic inflammatory rheumatisms duration was 12.38 ± 4.6 years. RA was erosive in 91% of cases. Rheumatoid factor and anti-citrullinated peptides antibodies were positive respectively in 84% and 85% of cases. Seventy-five percent of RA patients were on corticosteroids with a mean dose of 10.14 mg/day of prednisone equivalent and 79% of SA patients were on non-steroidal anti-inflammatory drugs. Eighty percent of our patients were treated with conventional synthetic DMARD and 44% with biological DMARD. Small joints were more affected than large joints regardless of the season in RA patients (p=0.05). The following parameters were higher in winter than in summer in RA patients: mean PGA 4.73 vs 4.64 (p=0.01); mean morning stiffness 1.6 vs 1.1 (p=0.01); mean SJC 8.7 vs 7.5 (p=0.01); mean DAS 28 ESR 4.56 vs 3.99 (p= 0.05); mean DAS28 CRP 4.6 vs 3.41 (p= 0.05), mean SDAI 21.8 vs 19.5 (p= 0.05); mean CDAI 20.5 vs 18.75 (p= 0.01) and mean ESR 45.6mm/h vs 38.2 mm/h (p=0.01). As for SA, the following parameters were higher in winter than in summer: mean morning stiffness 2 vs 1.4 (p= 0.01); mean ASDASCRP 3.9 vs 3.1 (p= 0.01) and mean BASDAI 6.2 vs 4.9 (p= 0.05). However, we found no statistically significant correlation between seasonal changes and VAS pain score, nocturnal awakenings, TJC, and CRP. Conclusion: Chronic inflammatory rheumatisms activity was higher in winter. Health care professionals should take seasonal changes into account in order to improve therapeutic care. Disclosure of Interests: None declared
Response to: ‘Correspondence on ‘Concomitant use of oral glucocorticoids and proton pump inhibitors and risk of osteoporotic fractures among patients with rheumatoid arthritis: a population-based cohort study’ by Gong and Zhang and Lin<i>et al</i>
Authors: Shahab Abtahi, Johanna H M Driessen, Andrea M Burden, Patrick C Souverein, Joop P van den Bergh, Annelies Boonen
Journal: Annals of the Rheumatic Diseases (2021)

We read with much interest the two correspondences on our recently published paper by Lin et al and Gong and Zhang in the Annals of the Rheumatic Diseases .1–3 We conducted a retrospective cohort study to evaluate the association between concomitant use of two commonly used medications in patients with rheumatoid arthritis (RA), that is, oral glucocorticoids (GCs) and proton pump inhibitors (PPIs), and risk of osteoporotic (OP) fractures. We used data from one of the largest primary care databases in the world, the Clinical Practice Research Datalink (CPRD). While this database is a rich source, it does have some inherent limitations.

The first question of both correspondences addresses one of these limitations of the CPRD, that is, the absence of any direct measure of RA disease activity in the database, such as the Disease Activity Score in 28 joints. The values of C reactive protein (CRP) were also not available for all patients, and if available, not for the whole follow-up period. Therefore, we decided not to include CRP in the analyses, considering our on-treatment study design and importance of having information on covariates during all person-times from patients for the entire follow-up. We were aware of this limitation and mentioned this in the paper. We also reported our strategy to overcome …
Upadacitinib Noninferior to Adalimumab for Psoriatic Arthritis
Authors: Anita Slomski
Journal: JAMA (2021)

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Abstract 15628: Endothelial Cell RNAseq in Hypercholesterolemic Zebrafish Reveals Early Dynamic Changes in Neuromast-Enriched Genes
Authors: Wei Dai, Aaron P Kithcart, Nicholas Rainville, Rahul C Deo, Manu Beerens, Calum MacRae
Journal: Circulation (2019)

Introduction: The cellular and molecular phenotypes of atherosclerosis during development are largely unknown. Zebrafish has emerged as an appealing model to understand endothelial dysfunction duri...
Single-Cell Epigenomics and Functional Fine-Mapping of Atherosclerosis GWAS Loci
Authors: Tiit Örd, Kadri Õunap, Lindsey K. Stolze, Redouane Aherrahrou, Valtteri Nurminen, Anu Toropainen, Ilakya Selvarajan, Tapio Lönnberg, Einari Aavik, Seppo Ylä-Herttuala, Mete Civelek, Casey E. Romanoski, Minna U. Kaikkonen
Journal: Circulation Research (2021)

[Figure: see text].
Somatic Mutations in “Benign” Disease
Authors: Satu Mustjoki, Neal S. Young
Journal: New England Journal of Medicine (2021)

DNA mutations occur in nearly every tissue throughout the human life span and accumulate at various rates in different tissues according to intrinsic and extrinsic factors. If a mutated clone acquires features that confer a competitive advantage, clonal dominance can emerge. Such alterations can have functional consequences and cause disease.
Competing against COVID-19: have we forgotten about student-athletes’ mental health?
Authors: Nicholas Grubic, Shagun Jain, Valentina Mihajlovic, Jane S Thornton, Amer M Johri
Journal: British Journal of Sports Medicine (2021)

<h3>Abstract</h3> The mechanisms of human birth seasonality have been debated for over 150 years<sup>1</sup>. In particular, the question of whether sexual activity or fertility variations drive birth seasonality has remained open and challenging to test without large-scale data on sexual activity <sup>2,3</sup>. Analyzing data from half-a-million users worldwide collected from the female health tracking app Clue combined with birth records, we inferred that birth seasonality is primarily driven by seasonal fertility, yet increased sexual activity around holidays explains minor peaks in the birth curve. Our data came from locations in the Northern Hemisphere (UK, US, and France) and the Southern Hemisphere (Brazil). We found that fertility peaks between the autumn equinox and winter solstice in the Northern Hemisphere locations and shortly following the winter solstice in the Southern Hemisphere locations.
AB0281 MORTALITY PREDICTORS IN PATIENTS WITH SYSTEMIC LUPUS ERYTHEMATOSUS: A SINGLE TERTIARY CENTER REFERRAL EXPERIENCE
Authors: C. M. Gamboa-Alonso, G. Figueroa-Parra, A. L. De-Leon-Ibarra, M. Á. Villarreal-Alarcón, J. Díaz-Angulo, D. Vega-Morales, D. Á. Galarza-Delgado
Journal: Annals of the Rheumatic Diseases (2021)

Background: Systemic Lupus Erythematosus (SLE) is a heterogeneous chronic multisystemic disease that has an increased risk of requiring inpatient management with higher morbidity and mortality rates. The most frequent causes of mortality are a high disease activity, infections, and cardiovascular diseases. Objectives: To determine the predictors of mortality in patients diagnosed with SLE. Methods: A longitudinal, descriptive, observational study was performed from March 2017-March 2020 at the University Hospital of the Autonomous University of Nuevo León, México, including patients with a diagnosis of SLE according to the ACR-EULAR 2012/2019 criteria. Descriptive statistics were used for demographic variables. Associations between mortality and clinical variables were determined using binary logistic regression analysis; a p &lt;0.05 was considered statistically significant. The SPSS program version 20 was used. Results: One-hundred and eighty-six patients with SLE diagnosis who fulfilled ACR-EULAR 2012/2019 criteria were included, 161 (86.6%) were women; the mean age was 35.8 (SD 15.41) years. The main chief complaints were dyspnea 31 (16.7%), fever in 28 (15.1%), renal involvement in 21 (11.29%), and arthritis in 19 (10.22%) patients. Of the 186 patients, 34 (18.3%) had a readmission, 13 (7%) required intensive care unit management, 68 (36.6%) had some type of infection and 22 (11.8%) died. Factors associated with mortality are shown in table 1. Patients receiving steroids and immunosuppression previous to hospitalization were 73 (39.2%) and 92 (49.5%) respectively. Conclusion: Infections remain the leading cause of death in SLE patients. Factors that predispose to infections are a chronic use of steroids and immunosuppression as well as high activity of disease. References: [1]Wu X-Y, Yang M, Xie Y-S, Xiao W-G, Lin J, Zhou B, et al. Causes of death in hospitalized patients with systemic lupus erythematosus: a 10-year multicenter nationwide Chinese cohort. Clin Rheumatol. enero de 2019;38(1):107-15. Table 1. Association between clinical and therapeutic factors with mortality in SLE patients. Factors associated with mortality Univariado Multivariado β (95 % IC) β (95 % IC)□ Age 0.93 (0.96-1.02) 0.98 (0.96-1.02) Use of mechanical ventilation 3.83 (1.07-13.4)* 3.07 (0.59-16.04) Previous use of steroids 3.92 (1.51-10.15)* 2.04 (0.58-7.35) Previous use of immunosupression 4.04 (1.42-11.45)* 2.85 (0.71-11.48) Infection 3.57 (1.41-9.01)* 3.25 (1.19-8.86)* p &lt;0.05 * Disclosure of Interests: None declared
POEMS syndrome: 2021 Update on diagnosis, risk‐stratification, and management
Authors: Angela Dispenzieri
Journal: American Journal of Hematology (2021)

POEMS syndrome is a paraneoplastic syndrome due to an underlying plasma cell neoplasm. The major criteria for the syndrome are polyradiculoneuropathy, clonal plasma cell disorder (PCD), sclerotic bone lesions, elevated vascular endothelial growth factor, and the presence of Castleman disease. Minor features include organomegaly, endocrinopathy, characteristic skin changes, papilledema, extravascular volume overload, and thrombocytosis.The diagnosis of POEMS syndrome is made with three of the major criteria, two of which must include polyradiculoneuropathy and clonal plasma cell disorder, and at least one of the minor criteria.Because the pathogenesis of the syndrome is not well understood, risk stratification is limited to clinical phenotype rather than specific molecular markers. Risk factors include low serum albumin, age, pleural effusion, pulmonary hypertension, and reduced eGFR.For those patients with a dominant plasmacytoma, first line therapy is irradiation. Patients with diffuse sclerotic lesions or disseminated bone marrow involvement and for those who have progression of their disease 3-6 months after completing radiation therapy should receive systemic therapy. Corticosteroids are temporizing, but alkylators are the mainstay of treatment, either in the form of low dose conventional therapy or high dose with stem cell transplantation. Lenalidomide shows promise with manageable toxicity. Thalidomide and bortezomib also have activity, but their benefit needs to be weighed against their risk of exacerbating the peripheral neuropathy. Prompt recognition and institution of both supportive care measures and therapy directed against the plasma cell result in the best outcomes.