Ollier disease: multiple enchondromatosis: case report and review of literature

Multiple enchondromatosis is a rare disease in which cartilage tumors appear at the level of the skeleton. The incidence is unknown due to the very few cases reported in world literature. We presented the case of a patient at the plastic surgery department at General hospital Dr. Ruben Leñero, otherwise healthy, referring first clinical manifestations at childhood with an increase in volume and deformity at the second and third fingers of the left hand

Paraneoplastic Cerebellar Degeneration Secondary to BRAF Mutant Melanoma Metastasis from an Occult Primary Cancer

Melanoma metastasis from an unknown primary cancer has an incidence of 3.2% among melanoma patients. Furthermore, paraneoplastic neurological syndromes (PNS) are rare, occurring in 1-3% of patients with malignancies. Paraneoplastic cerebellar degeneration (PCD) is one of the classic PNS and is characterized by acute or subacute onset of ataxia and/or presence of onconeural antibodies. A 61-year-old male with ataxia, vertigo, and headache later developed dysarthria, multidirectional nystagmus, hyperactive delirium, auditory hallucinations, psychomotor agitation, and myoclonus. Toxicological, metabolic, infectious, and autoimmune etiologies were assessed and reported negative. An osteolytic lesion was observed in the right iliac crest via computed tomography (CT). A positron emission tomography-CT reported increased fluorodeoxyglucose uptake of a right iliac and right inguinal ganglion. After biopsy of the right inguinal ganglion, a BRAF mutation-positive melanoma metastasis from an occult primary cancer was diagnosed. Dermatologic, ophthalmologic, and endoscopic gastrointestinal assessment did not reveal a primary malignant melanoma. The patient's movement disorders and neuropsychiatric symptoms improved with quetiapine, prednisone, azathioprine, and cyclophosphamide. Oncological management was conducted with MAPK pathway inhibitors (i.e., dabrafenib and trametinib). Movement disorders associated with neuropsychiatric symptoms are complex to diagnose. PNS are rare and often associated with antibodies against neural antigens expressed by the tumor. The case presented above describes a patient with a BRAF-positive malignant melanoma metastasis from an occult primary associated with PCD - to the best of our knowledge, the first reported in the literature.</p

Clinical and epidemiological profile of patients with Sjögren's syndrome concomitant to rheumatoid arthritis

El Síndrome de Sjögren es una enfermedad crónica autoinmune en la cual se ven alteradas las glándulas mucosas del organismo, caracterizada principalmente por sequedad oral (xerostomía) y ocular (xeroftalmia). Objetivo. Describir el perfil clínico y epidemiológico de pacientes con Sjögren concomitante a Artritis Reumatoide en una Clínica  privada de la ciudad de Medellín-Colombia. 2005- 2010. Metodología. Estudio descriptivo del tipo de series clínicas en el que se estudiaron las historias clínicas de los pacientes atendidos por Sjögren concomitante a Artritis Reumatoide en una clínica privada de Medellín-Colombia. Para el análisis estadístico se utilizó el programa SPSS, a las variables cuantitativas se les calculó el promedio y la desviación estándar, además de los valores mínimo y máximo, y a las variables cualitativas se les estimó proporciones. Resultados. Se estudiaron 23 pacientes los cuales tenían una edad mediana de 55 años y 91.3% eran del sexo femenino. Los síntomas más frecuentemente reportados fueron la xerostomía y la xeroftalmia con un 69.6% y 56.5% respectivamente. Los métodos más empleados para el diagnóstico fueron el Factor Reumatoideo (78.3%) y los anticuerpos antinucleares (69.6%), mientras que los principales medicamentos empleados fueron la cloroquina y la Prednisolona (cada uno con 52.2%). Conclusión. Sjögren concomitante a Artritis fue encontrado más comúnmente en el sexo femenino. Las manifestaciones clínicas más frecuentes fueron la xerostomía y xeroftalmia y la mediana del tiempo de diagnóstico fue de 61 meses. Es necesario seguir ahondando en el tema para caracterizar mejor aquellos pacientes con Sjögren y otra enfermedad inmunológica de base.Sjögren's Syndrome is a chronic autoimmune disease in which the body's mucous glands are altered, characterized mainly by oral dryness (xerostomia) and ocular dryness (xerophthalmia). Aim. To describe the clinical and epidemiological profile of patients with Sjögren's concomitant to Rheumatoid Arthritis in a private clinic in the city of Medellín-Colombia. 2005- 2010. Methodology. Descriptive study of the type of clinical series in which the medical records of patients treated by Sjögren's concomitant with Rheumatoid Arthritis in a private clinic in Medellín-Colombia were studied. For the statistical analysis, the SPSS program was used; the average and standard deviation were calculated for the quantitative variables, as well as the minimum and maximum values, and proportions were estimated for the qualitative variables. Results. 23 patients were studied, who had a median age of 55 years and 91.3% were female. The most frequently reported symptoms were xerostomia and xerophthalmia with 69.6% and 56.5% respectively. The most used methods for diagnosis were Rheumatoid Factor (78.3%) and antinuclear antibodies (69.6%), while the main medications used were chloroquine and Prednisolone (each with 52.2%). Conclusion. Sjögren's concomitant Arthritis was found more commonly in females. The most frequent clinical manifestations were xerostomia and xerophthalmia and the median time of diagnosis was 61 months. It is necessary to continue delving into the topic to better characterize those patients with Sjögren's and another underlying immunological disease

Perfil clínico y epidemiológico de pacientes con síndrome de Sjögren concomitante a artritis reumatoide

El Síndrome de Sjögren es una enfermedad crónica autoinmune en la cual se ven alteradas las glándulas mucosas del organismo, caracterizada principalmente por sequedad oral (xerostomía) y ocular (xeroftalmia). Objetivo. Describir el perfil clínico y epidemiológico de pacientes con Sjögren concomitante a Artritis Reumatoide en una Clínica  privada de la ciudad de Medellín-Colombia. 2005- 2010. Metodología. Estudio descriptivo del tipo de series clínicas en el que se estudiaron las historias clínicas de los pacientes atendidos por Sjögren concomitante a Artritis Reumatoide en una clínica privada de Medellín-Colombia. Para el análisis estadístico se utilizó el programa SPSS, a las variables cuantitativas se les calculó el promedio y la desviación estándar, además de los valores mínimo y máximo, y a las variables cualitativas se les estimó proporciones. Resultados. Se estudiaron 23 pacientes los cuales tenían una edad mediana de 55 años y 91.3% eran del sexo femenino. Los síntomas más frecuentemente reportados fueron la xerostomía y la xeroftalmia con un 69.6% y 56.5% respectivamente. Los métodos más empleados para el diagnóstico fueron el Factor Reumatoideo (78.3%) y los anticuerpos antinucleares (69.6%), mientras que los principales medicamentos empleados fueron la cloroquina y la Prednisolona (cada uno con 52.2%). Conclusión. Sjögren concomitante a Artritis fue encontrado más comúnmente en el sexo femenino. Las manifestaciones clínicas más frecuentes fueron la xerostomía y xeroftalmia y la mediana del tiempo de diagnóstico fue de 61 meses. Es necesario seguir ahondando en el tema para caracterizar mejor aquellos pacientes con Sjögren y otra enfermedad inmunológica de base

Understanding the conservation-genetics gap in Latin America: challenges and opportunities to integrate genetics into conservation practices

Introduction: Integrating genetic data into conservation management decisions is a challenging task that requires strong partnerships between researchers and managers. Conservation in Latin America is of crucial relevance worldwide given the high biodiversity levels and the presence of hotspots in this region.Methods: We conducted a survey across Latin America to identify gaps and opportunities between genetic researchers and conservation managers. We aimed to better understand conservation managers’ points of view and how genetic research could help conservation practitioners to achieve their goals, by implementing genetic assessments that could effectively inform conservation practices. We distributed an online survey via four regional collaborating organizations and 32 focal points based in 20 Latin American countries. The target respondents were conservation managers of species or areas in Latin America.Results: We collected a total of 468 answered questionnaires from 21 Latin American countries. Most respondents (44%) were from an academic or research institution while non-academics were mainly from non-governmental institutions (30%) and government agencies (25%). Most respondents (65%) have performed or used genetic assessments in their managed area or species, either alone, in partnership, contracting someone else or using published results. For the majority of this group, the genetic results were relevant to their conservation management goals, helping to inform management decisions. Respondents that had not performed genetic assessments (35%) were mainly from the non-academic group, and their main barriers were limited access to funds, genetic lab facilities, and trained personnel to design studies and conduct lab work.Discussion: From the findings, we describe the current situation and provide a general diagnosis of the conservation-genetics gap in Latin America. We describe the gender gap, academic-practitioner co-development of conservation questions and projects, and the nationality and residency of Latin American conservation managers in relation to the countries where they work. We discuss opportunities to co-create research questions and co-develop studies based on conservation practitioners’ needs. We offer recommendations for overcoming barriers to integrate genetic information into conservation actions, and advance agendas that fit the needs and realities of the highly heterogeneous, biodiverse and challenging Latin American region

Post-intervention Status in Patients With Refractory Myasthenia Gravis Treated With Eculizumab During REGAIN and Its Open-Label Extension

OBJECTIVE: To evaluate whether eculizumab helps patients with anti-acetylcholine receptor-positive (AChR+) refractory generalized myasthenia gravis (gMG) achieve the Myasthenia Gravis Foundation of America (MGFA) post-intervention status of minimal manifestations (MM), we assessed patients' status throughout REGAIN (Safety and Efficacy of Eculizumab in AChR+ Refractory Generalized Myasthenia Gravis) and its open-label extension. METHODS: Patients who completed the REGAIN randomized controlled trial and continued into the open-label extension were included in this tertiary endpoint analysis. Patients were assessed for the MGFA post-intervention status of improved, unchanged, worse, MM, and pharmacologic remission at defined time points during REGAIN and through week 130 of the open-label study. RESULTS: A total of 117 patients completed REGAIN and continued into the open-label study (eculizumab/eculizumab: 56; placebo/eculizumab: 61). At week 26 of REGAIN, more eculizumab-treated patients than placebo-treated patients achieved a status of improved (60.7% vs 41.7%) or MM (25.0% vs 13.3%; common OR: 2.3; 95% CI: 1.1-4.5). After 130 weeks of eculizumab treatment, 88.0% of patients achieved improved status and 57.3% of patients achieved MM status. The safety profile of eculizumab was consistent with its known profile and no new safety signals were detected. CONCLUSION: Eculizumab led to rapid and sustained achievement of MM in patients with AChR+ refractory gMG. These findings support the use of eculizumab in this previously difficult-to-treat patient population. CLINICALTRIALSGOV IDENTIFIER: REGAIN, NCT01997229; REGAIN open-label extension, NCT02301624. CLASSIFICATION OF EVIDENCE: This study provides Class II evidence that, after 26 weeks of eculizumab treatment, 25.0% of adults with AChR+ refractory gMG achieved MM, compared with 13.3% who received placebo

Minimal Symptom Expression' in Patients With Acetylcholine Receptor Antibody-Positive Refractory Generalized Myasthenia Gravis Treated With Eculizumab

The efficacy and tolerability of eculizumab were assessed in REGAIN, a 26-week, phase 3, randomized, double-blind, placebo-controlled study in anti-acetylcholine receptor antibody-positive (AChR+) refractory generalized myasthenia gravis (gMG), and its open-label extension

Impact of COVID-19 on cardiovascular testing in the United States versus the rest of the world

Objectives: This study sought to quantify and compare the decline in volumes of cardiovascular procedures between the United States and non-US institutions during the early phase of the coronavirus disease-2019 (COVID-19) pandemic. Background: The COVID-19 pandemic has disrupted the care of many non-COVID-19 illnesses. Reductions in diagnostic cardiovascular testing around the world have led to concerns over the implications of reduced testing for cardiovascular disease (CVD) morbidity and mortality. Methods: Data were submitted to the INCAPS-COVID (International Atomic Energy Agency Non-Invasive Cardiology Protocols Study of COVID-19), a multinational registry comprising 909 institutions in 108 countries (including 155 facilities in 40 U.S. states), assessing the impact of the COVID-19 pandemic on volumes of diagnostic cardiovascular procedures. Data were obtained for April 2020 and compared with volumes of baseline procedures from March 2019. We compared laboratory characteristics, practices, and procedure volumes between U.S. and non-U.S. facilities and between U.S. geographic regions and identified factors associated with volume reduction in the United States. Results: Reductions in the volumes of procedures in the United States were similar to those in non-U.S. facilities (68% vs. 63%, respectively; p = 0.237), although U.S. facilities reported greater reductions in invasive coronary angiography (69% vs. 53%, respectively; p < 0.001). Significantly more U.S. facilities reported increased use of telehealth and patient screening measures than non-U.S. facilities, such as temperature checks, symptom screenings, and COVID-19 testing. Reductions in volumes of procedures differed between U.S. regions, with larger declines observed in the Northeast (76%) and Midwest (74%) than in the South (62%) and West (44%). Prevalence of COVID-19, staff redeployments, outpatient centers, and urban centers were associated with greater reductions in volume in U.S. facilities in a multivariable analysis. Conclusions: We observed marked reductions in U.S. cardiovascular testing in the early phase of the pandemic and significant variability between U.S. regions. The association between reductions of volumes and COVID-19 prevalence in the United States highlighted the need for proactive efforts to maintain access to cardiovascular testing in areas most affected by outbreaks of COVID-19 infection

Omecamtiv mecarbil in chronic heart failure with reduced ejection fraction, GALACTIC‐HF: baseline characteristics and comparison with contemporary clinical trials

Aims: The safety and efficacy of the novel selective cardiac myosin activator, omecamtiv mecarbil, in patients with heart failure with reduced ejection fraction (HFrEF) is tested in the Global Approach to Lowering Adverse Cardiac outcomes Through Improving Contractility in Heart Failure (GALACTIC‐HF) trial. Here we describe the baseline characteristics of participants in GALACTIC‐HF and how these compare with other contemporary trials. Methods and Results: Adults with established HFrEF, New York Heart Association functional class (NYHA) ≥ II, EF ≤35%, elevated natriuretic peptides and either current hospitalization for HF or history of hospitalization/ emergency department visit for HF within a year were randomized to either placebo or omecamtiv mecarbil (pharmacokinetic‐guided dosing: 25, 37.5 or 50 mg bid). 8256 patients [male (79%), non‐white (22%), mean age 65 years] were enrolled with a mean EF 27%, ischemic etiology in 54%, NYHA II 53% and III/IV 47%, and median NT‐proBNP 1971 pg/mL. HF therapies at baseline were among the most effectively employed in contemporary HF trials. GALACTIC‐HF randomized patients representative of recent HF registries and trials with substantial numbers of patients also having characteristics understudied in previous trials including more from North America (n = 1386), enrolled as inpatients (n = 2084), systolic blood pressure &lt; 100 mmHg (n = 1127), estimated glomerular filtration rate &lt; 30 mL/min/1.73 m2 (n = 528), and treated with sacubitril‐valsartan at baseline (n = 1594). Conclusions: GALACTIC‐HF enrolled a well‐treated, high‐risk population from both inpatient and outpatient settings, which will provide a definitive evaluation of the efficacy and safety of this novel therapy, as well as informing its potential future implementation

A cognition-based framework for the development of visualization literacy

Data visualizations are prevalent in scientific simulation, medicine, physical therapy, product design, manufacturing, weather predictions, simulations, and engineering. They are also used in information and scientific visualization for WWW exploration, document searching, and education. This pervasiveness makes it important to understand how we comprehend these visualizations, what comprehension difficulties can be expected in diverse populations, and which visual properties increase comprehension difficulty. This will enable us to create training methods that help people gain basic comprehension strategies and analytic skills for visualizations. The goal of this dissertation is to define an approach that can be used to determine the factors that make a visualization difficult to comprehend by certain individuals. This information is then used to test if training using this information helps individuals develop new and workable strategies for visualization analysis. In this dissertation we present an approach that is designed as a series of steps designed (1) to determine what cognitive abilities are correlated with comprehension of the visualization, (2) to identify visual properties that make a basic visualization difficult to comprehend and (3) to measure the effect of basic incremental training using these visual properties.Ph.D.Includes bibliographical references (p. 140-146)by Maria C. Velez-Roja