¿Ahora sí cuidados paliativos es parte de la medicina?

Ending 2019 Sars-Cov-2 virus was detected in China´s city of Wuhan (1) and in the early 2020 the coronavirus pandemic was declared by the WHO. (2) The array of clinical manifestations includes asymptomatic, mild condition or potentially mortal symptoms like pneumonitis and pulmonary embolism, especially in elders. (3) Consequently, global health care and economy collapsed.  A fines del año 2019 se describió al virus Sars-Cov-2 en la ciudad China de Wuhan (1) y a inicios del año 2020 fue declarada la infección por este como pandemia por la OMS. (2) La infección por ese virus genera desde afecciones asintomáticas a formas graves de neumonitis y tromboembolismo pulmonar, particularmente en la población más añosa, (3) generando una sobrecarga en el sistema sanitario y un colapso en la economía mundial

Importancia de la anemia en el cáncer colorrectal

El cáncer colorrectal es la segunda causa de mortalidad por cáncer en Uruguay con 23,61% del total de fallecidos por cáncer. La presencia de anemia es un signo frecuente en los pacientes con cáncer colorrectal asociándose a una reducción en la sobrevida, su papel como factor pronóstico es discutido. El objetivo de esta presentación es observar si la presencia de anemia preoperatoria en los pacientes con cáncer colorrectal afecta el pronóstico. Se seleccionaron 411 pacientes para un estudio retrospectivo de seguimiento por cáncer colorrectal desde el año 1987 al año 2002. Presentaron anemia preoperatoria (230/411) 56% de los casos, en este subgrupo predominó la topografía lesional en colon derecho con 36,5% (84/230) de los casos, la edad media fue 68 años comparado al grupo de pacientes sin anemia donde predominó la topografía rectal con 40,3% (73/181) de los casos y la edad media fue 64 años. Los pacientes con anemia tuvieron mayores índices de mortalidad global, 47% versus 34% p=0,05, y quirúrgica que los pacientes sin anemia, 10% versus 3% p=0,009. Del total de los casos, 96% (394/411) fueron estadios B, C y D de Dukes. Surge la evidencia de los datos analizados que la presencia de anemia preoperatoria en pacientes con cáncer colorrectal tiene incidencia negativa en el pronóstico, aumentando tanto la mortalidad global como la quirúrgica

Accuracy of Predictive Equations for Estimating Resting Energy Expenditure in Obese Adolescents

ObjectiveTo compare resting energy expenditure (REE) measured by indirect calorimetry with REE predicted using different equations in obese adolescents.Study designWe recruited 264 obese patients (body mass index ranging from 30.0-70.0 kg/m2) between 14 and 18 years of age. Data were obtained comparing measured and predicted REE derived from published equations for normal weight and obese adolescents. The average differences between measured and predicted REE, as well as the accuracy at ±10% level, were evaluated.ResultsEvaluating the mean REE in 109 males (1938 ± 271 kcal/d) and 155 females (2569 ± 459 kcal/d), we found that the Lazzer equation in males had the smallest difference between measured and predicted REE; in females the Henry-1, Food and Agriculture Organization/World Health Organization/United Nations University, Schmelze, and Lazzer equations were the most accurate. The prediction accuracy was considered adequate within ±10%.ConclusionsREE predictive equations developed in obese patients and for specific age groups are more suitable than those for the general population. Inaccuracy of predicted REE could affect dietary prescription appropriateness and, consequently, dietary compliance in this age group

Thermomechanical characterization of an amylose-free starch extracted from cassava (Manihot esculenta, Crantz)

The aim of this study was to determine and compare the melting (Tm), glass transition (Tg) and mechanical relaxation (Tα) temperatures of a new waxy cassava starch. Thermal transitions measurements were obtained by Differential Scanning Calorimetry (DSC) and Dynamical Mechanical Thermal Analysis (DMTA). The experimental data showed a high correlation between water volume fraction and melting temperature (Tm) indicating that the Flory-Huggins theory can be used to describe the thermal behavior of this starch. The Tm of waxy cassava starch-water mixes were lower than a waxy corn starch-water reference system, but differences were not statistically significant. The mechanical relaxation temperatures taken at tan δ peaks were found 29–38 °C larger than Tg. The Tα and Tg measured for waxy cassava starch exhibited similar properties to the ones of waxy corn starch, implying that waxy cassava starch can be used in food and materials industry

ANÁLISE ASSISTENCIAL da UNIDADE DE CUIDADOS PALIAT IVOS ONCOLÓGICOS EM UM HOSPITAL PART ICULAR NA CIDADE DE MONTEVIDÉU

“The Palliative Care Unit is defined as an organization of health professionals providing multidisciplinary care through a broad spectrum of forms of assistance which necessarily includes hospitalization in specific beds. The UCP must meet functional, structural and organizational requirements that ensure adequate conditions of quality, safety and efficiency to perform this activity “(1). The overall objective is to analyze the welfare aspect of the Oncology Palliative Care Unit of a Hospital located in Montevideo in its first year of operation. The methodology performed is a descriptive, retrospective cross-sectional study.The results show that 379 users were treated and 2487 consultations were performed in sanatorium, clinic and user´s home. Most users served are males with an average age of 76, being derived mostly by oncologists. The elastomeric infusor was used in 85 of them. 301 died, the majority of deaths occurring in the Hospi Saunders II. In regards to psychological care, its risk and need was assessed for 117 users and their families. A letter of condolence was sent to 57 families, and 13 mourning families were assisted. The Ministry of Public Health considers that 921 users could receive palliative care in our institution. 379 users were helped in a year by this unit. This is an important quantity; comparing data concerning other palliative care units in Uruguay.“La UCP (Unidad de Cuidados Paliativos) se define como una organización de profesionales sanitarios, que ofrece atención multidisciplinaria mediante un amplio espectro de modalidades de asistencia que incluye necesariamente la hospitalización en camas específicas. Para realizar esta actividad la UCP debe cumplir unos requisitos funcionales, estructurales y organizativos, que garantizan las condiciones adecuadas de calidad,seguridad y eficiencia”(1). El objetivo general es analizar el aspecto asistencial de una Unidad de Cuidados Paliativos Oncológicos de la ciudad de Montevideo en su primer año defuncionamiento. Para esto se realizó un estudio descriptivo, retrospectivo de corte transversal. Los resultados arrojaron que se atendieron 379 usuarios, realizándose 2487 consultas distribuidas en sanatorio, policlínica y domicilio. La mayoría de los usuarios atendidos son de sexo masculino con una edad media de 76 años, siendo derivados casi todos por médicos oncólogos. Fallecieron 301 de los usuarios, muchos de ellos en elHospi Saunders II. Se utilizó el recurso del infusor elastomérico en 85 de ellos. En relación a la asistencia psicológica se evaluó el riesgo y la necesidad en 117 usuarios y sus familias,enviándose a 57 familias cartas de condolencias. Se asistió en duelo a 13 familias. El Ministerio de Salud Pública considera que 921 usuarios serían pasibles de cuidados paliativos en esta mutualista. En un año fueron captados por esta unidad 379 usuarios. Este es un número importante comparando los datos con unidades de cuidados paliativos referentes en Uruguay.“A UCP (Unidade de Cuidados Paliativos) é definida como uma organização de profissionais de saúde que prestam atendimento multidisciplinar através de um amplo espectro de formas de assistência que necessariamente inclui camas de hospitalização específicas. A UCP deve atender aos requisitos funcionais, estruturais e organizacionais que assegurem condições adequadas de qualidade, segurança e eficiência para realizar esta atividade “(1). O objetivo geral é analisar o aspecto do bem-estar de Oncologia Palliative Care Unit da Associação Espanhola de Montevidéu, em seu primeiro ano de operação. Metodologia: um estudo descritivo transversal, retrospectivo foi realizado. 379 usuários atendidos, realizando consultas distribuídas em 2.487 sanatório, clínica e em casa. A maioria dos usuários atendidos são do sexo masculino, com idade média de 76, sendo derivada principalmente por médicos oncologistas. O uso de infusor elastomérica em 85 usuários usada, 301 morreram ea maioria das mortes no Hospice Saunders II. No que diz respeito ao risco de atendimento psicológico e da necessidade de 117 usuários e suas famílias, o envio de uma carta de condolências 57 famílias, com a assistência de 13 famílias enlutadas que foram avaliados. O Ministério da Saúde considera 921 usuários seria susceptível de nossa mútua paliativos, cuidados em um ano foram apanhados por esta unidade 379 usuários. Este é um número importante comparar dados relativos às unidades de cuidados paliativos no Uruguai

Evaluation of MLH1 variants of unclear significance

Inactivating mutations in the MLH1 gene cause the cancer predisposition Lynch syndrome, but for small coding genetic variants it is mostly unclear if they are inactivating or not. Nine such MLH1 variants have been identified in South American colorectal cancer (CRC) patients (p.Tyr97Asp, p.His112Gln, p.Pro141Ala, p.Arg265Pro, p.Asn338Ser, p.Ile501del, p.Arg575Lys, p.Lys618del, p.Leu676Pro), and evidence of pathogenicity or neutrality was not available for the majority of these variants. We therefore performed biochemical laboratory testing of the variant proteins and compared the results to protein in silico predictions on structure and conservation. Additionally, we collected all available clinical information of the families to come to a conclusion concerning their pathogenic potential and facilitate clinical diagnosis in the affected families. We provide evidence that four of the alterations are causative for Lynch syndrome, four are likely neutral and one shows compromised activity which can currently not be classified with respect to its pathogenic potential. The work demonstrates that biochemical testing, corroborated by congruent evolutionary and structural information, can serve to reliably classify uncertain variants when other data are insufficient.Barretos Cancer Hospital was partially funded by FINEP‐CT‐INFRA, Grant Number: 02/2010, Radium Hospital Foundation (Oslo, Norway), Helse Sør‐Øst (Norway); Deutsche Forschungsgemeinschaft, Grant Number: PL688/2‐1info:eu-repo/semantics/publishedVersio

No difference in penetrance between truncating and missense/aberrant splicing pathogenic variants in mlh1 and msh2: A prospective lynch syndrome database study

Background. Lynch syndrome is the most common genetic predisposition for hereditary cancer. Carriers of pathogenic changes in mismatch repair (MMR) genes have an increased risk of developing colorectal (CRC), endometrial, ovarian, urinary tract, prostate, and other cancers, depending on which gene is malfunctioning. In Lynch syndrome, differences in cancer incidence (penetrance) according to the gene involved have led to the stratification of cancer surveillance. By contrast, any differences in penetrance determined by the type of pathogenic variant remain unknown. Objective. To determine cumulative incidences of cancer in carriers of truncating and missense or aberrant splicing pathogenic variants of the MLH1 and MSH2 genes. Methods. Carriers of pathogenic variants of MLH1 (path_MLH1) and MSH2 (path_MSH2) genes filed in the Prospective Lynch Syndrome Database (PLSD) were categorized as truncating or missense/aberrant splicing according to the InSiGHT criteria for pathogenicity. Results. Among 5199 carriers, 1045 had missense or aberrant splicing variants, and 3930 had truncating variants. Prospective observation years for the two groups were 8205 and 34,141 years, respectively, after which there were no significant differences in incidences for cancer overall or for colorectal cancer or endometrial cancers separately. Conclusion. Truncating and missense or aberrant splicing pathogenic variants were associated with similar average cumulative incidences of cancer in carriers of path MLH1 and path_MSH2.Fil: Dominguez Valentin, Mev. St Mark’s Hospital; Reino Unido. The Norwegian Radium Hospital; Noruega. European Hereditary Tumour Group; Reino UnidoFil: Plazzer, John Paul. St Mark’s Hospital; Reino Unido. The Royal Melbourne Hospital; AustraliaFil: Sampson, Julian R.. European Hereditary Tumour Group; Reino Unido. Cardiff University; Reino UnidoFil: Engel, Christoph. European Hereditary Tumour Group; Reino Unido. Universitat Leipzig; AlemaniaFil: Aretz, Stefan. Universitat Bonn; AlemaniaFil: Jenkins, Mark A.. University of Melbourne; AustraliaFil: Sunde, Lone. Aalborg University; DinamarcaFil: Bernstein, Inge. Aalborg University; DinamarcaFil: Capella, Gabriel. European Hereditary Tumour Group; Reino Unido. St Mark’s Hospital; Reino Unido. Institut Català d’Oncologia; EspañaFil: Balaguer Prunés, Francesc. Universidad de Barcelona; EspañaFil: Macrae, Finlay. European Hereditary Tumour Group; Reino Unido. The Royal Melbourne Hospital; AustraliaFil: Winship, Ingrid M.. University of Melbourne; AustraliaFil: Thomas, Huw. Imperial College London; Reino UnidoFil: Evans, Dafydd Gareth. University of Manchester; Reino UnidoFil: Burn, John. Universidad de Newcastle; Australia. The Royal Melbourne Hospital; Australia. St Mark’s Hospital; Reino UnidoFil: Greenblatt, Marc. University of Vermont; Estados UnidosFil: de Vos tot Nederveen Cappel, Wouter H.. Isala Clinics; Países BajosFil: Sijmons, Rolf H.. University of Groningen; Países Bajos. St Mark’s Hospital; Reino Unido. European Hereditary Tumour Group; Reino UnidoFil: Nielsen, Maartje. Leids Universitair Medisch Centrum; Países BajosFil: Bertario, Lucio. Fondazione IRCCS Istituto Nazionale dei Tumori; ItaliaFil: Bonanni, Bernardo. Fondazione IRCCS Istituto Nazionale dei Tumori; ItaliaFil: Tibiletti, Maria Grazia. Università dell’Insubria; ItaliaFil: Cavestro, Giulia Martina. Vita-Salute San Raffaele University; ItaliaFil: Lindblom, Annika. Karolinska Huddinge Hospital; SueciaFil: Della Valle, Adriana. Hospital Fuerzas Armadas; UruguayFil: Lopez Kostner, Francisco. Clínica Universidad de los Andes; ChileFil: Alvarez, Karin. Clínica Universidad de los Andes; ChileFil: Gluck, Nathan. Universitat Tel Aviv; IsraelFil: Katz, Lior. Sheba Medical Center; IsraelFil: Heinimann, Karl. University Hospital Basel; SuizaFil: Piñero, Tamara Alejandra. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Medicina Traslacional e Ingeniería Biomédica - Hospital Italiano. Instituto de Medicina Traslacional e Ingeniería Biomédica.- Instituto Universitario Hospital Italiano de Buenos Aires. Instituto de Medicina Traslacional e Ingeniería Biomédica; ArgentinaFil: Pavicic, Walter Hernan. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Medicina Traslacional e Ingeniería Biomédica - Hospital Italiano. Instituto de Medicina Traslacional e Ingeniería Biomédica.- Instituto Universitario Hospital Italiano de Buenos Aires. Instituto de Medicina Traslacional e Ingeniería Biomédica; Argentin

The Future is Big Graphs! A Community View on Graph Processing Systems

Graphs are by nature unifying abstractions that can leverage interconnectedness to represent, explore, predict, and explain real- and digital-world phenomena. Although real users and consumers of graph instances and graph workloads understand these abstractions, future problems will require new abstractions and systems. What needs to happen in the next decade for big graph processing to continue to succeed?Comment: 12 pages, 3 figures, collaboration between the large-scale systems and data management communities, work started at the Dagstuhl Seminar 19491 on Big Graph Processing Systems, to be published in the Communications of the AC

Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database

Lynch syndrome (LS) results from pathogenic variants in the mismatch repair (MMR) genes and is the most common hereditary cancer syndrome, affecting an estimated 1 in 300 individuals. Pathogenic variants in each of the MMR genes path_MLH1, path_MSH2, path_MSH6, and path_PMS2 result in different risks for cancers in organs including the colorectum, endometrium, ovaries, stomach, small bowel, bile duct, pancreas, and upper urinary tract. Accurate estimates of these risks are essential for planning appropriate approaches to the prevention or early diagnosis of cancers but the robustness of previous studies has been limited by factors including retrospective design,1,2 lack of validation in independent cohorts,3-5 and inconsistent classification of genetic variants. Unexpected findings from previous studies have included path_MLH1 and path_MSH2 carriers appearing to have a lifetime risk of colorectal cancer (CRC) of approximately 50%, despite surveillance colonoscopy,6-8 and that shorter intervals between colonoscopies do not seem to reduce the incidence of CRC in LS.9,10 These findings challenge the assumptions that CRC in LS usually develops from a noninfiltrative adenoma precursor and that CRC can be prevented by colonoscopic detection and removal of adenomas in the colon and rectum. Additionally, previous studies in the Prospective Lynch Syndrome Database (PLSD) have shown no increase in cancer risk in path_PMS2 carriers before 40 years of age and, although observation years were limited in older path_PMS2 carriers, LS-associated cancers other than endometrial and prostate were not observed.6-8 In this study we collected prospective data from a new large cohort of path_MMR carriers to validate previous findings from PLSD. We also updated information on the original cohort to ensure consistent classification of pathogenicity of MMR gene variants. We then combined both data sets, providing larger numbers that allowed us to derive more precise risk estimates for cancers in LS categorized by gene and gender

From colorectal cancer pattern to the characterization of individuals at risk: Picture for genetic research in Latin America

Colorectal cancer (CRC) is one of the most common cancers in Latin America and the Caribbean, with the highest rates reported for Uruguay, Brazil and Argentina. We provide a global snapshot of the CRC patterns, how screening is performed, and compared/contrasted to the genetic profile of Lynch syndrome (LS) in the region. From the literature, we find that only nine (20%) of the Latin America and the Caribbean countries have developed guidelines for early detection of CRC, and also with a low adherence. We describe a genetic profile of LS, including a total of 2,685 suspected families, where confirmed LS ranged from 8% in Uruguay and Argentina to 60% in Peru. Among confirmed LS, path_MLH1 variants were most commonly identified in Peru (82%), Mexico (80%), Chile (60%), and path_MSH2/EPCAM variants were most frequently identified in Colombia (80%) and Argentina (47%). Path_MSH6 and path_PMS2 variants were less common, but they showed important presence in Brazil (15%) and Chile (10%), respectively. Important differences exist at identifying LS families in Latin American countries, where the spectrum of path_MLH1 and path_MSH2 variants are those most frequently identified. Our findings have an impact on the evaluation of the patients and their relatives at risk for LS, derived from the gene affected. Although the awareness of hereditary cancer and genetic testing has improved in the last decade, it is remains deficient, with 39%–80% of the families not being identified for LS among those who actually met both the clinical criteria for LS and showed MMR deficiency.Fil: Vaccaro, Carlos Alberto. Hospital Italiano; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: López Kostner, Francisco. No especifíca;Fil: Adriana, Della Valle. Hospital Fuerzas Armadas; UruguayFil: Inez Palmero, Edenir. Hospital de cáncer de Barretos, FACISB; BrasilFil: Rossi, Benedito Mauro. Hospital Sirio Libanes; BrasilFil: Antelo, Marina. Gobierno de la Ciudad de Buenos Aires. Hospital de Gastroenterología "Dr. Carlos B. Udaondo"; Argentina. Universidad Nacional de Lanús; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Solano, Angela Rosario. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Biomédicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Biomédicas; ArgentinaFil: Carraro, Dirce Maria. No especifíca;Fil: Forones, Nora Manoukian. Universidade Federal de Sao Paulo; BrasilFil: Bohorquez, Mabel. Universidad del Tolima; ColombiaFil: Lino Silva, Leonardo S.. Instituto Nacional de Cancerologia; MéxicoFil: Buleje, Jose. Universidad de San Martín de Porres; PerúFil: Spirandelli, Florencia. No especifíca;Fil: Abe Sandes, Kiyoko. Universidade Federal da Bahia; BrasilFil: Nascimento, Ivana. No especifíca;Fil: Sullcahuaman, Yasser. Universidad Peruana de Ciencias Aplicadas; Perú. Instituto de Investigación Genomica; PerúFil: Sarroca, Carlos. Hospital Fuerzas Armadas; UruguayFil: Gonzalez, Maria Laura. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Medicina Traslacional e Ingeniería Biomédica - Hospital Italiano. Instituto de Medicina Traslacional e Ingeniería Biomédica.- Instituto Universitario Hospital Italiano de Buenos Aires. Instituto de Medicina Traslacional e Ingeniería Biomédica; ArgentinaFil: Herrando, Alberto Ignacio. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Medicina Traslacional e Ingeniería Biomédica - Hospital Italiano. Instituto de Medicina Traslacional e Ingeniería Biomédica.- Instituto Universitario Hospital Italiano de Buenos Aires. Instituto de Medicina Traslacional e Ingeniería Biomédica; ArgentinaFil: Alvarez, Karin. No especifíca;Fil: Neffa, Florencia. Hospital Fuerzas Armadas; UruguayFil: Galvão, Henrique Camposreis. Barretos Cancer Hospital; BrasilFil: Esperon, Patricia. Hospital Fuerzas Armadas; UruguayFil: Golubicki, Mariano. Gobierno de la Ciudad de Buenos Aires. Hospital de Gastroenterología "Dr. Carlos B. Udaondo"; ArgentinaFil: Cisterna, Daniel. Gobierno de la Ciudad de Buenos Aires. Hospital de Gastroenterología "Dr. Carlos B. Udaondo"; ArgentinaFil: Cardoso, Florencia C.. Centro de Educación Medica E Invest.clinicas; ArgentinaFil: Tardin Torrezan, Giovana. No especifíca;Fil: Aguiar Junior, Samuel. No especifíca;Fil: Aparecida Marques Pimenta, Célia. Universidade Federal de Sao Paulo; BrasilFil: Nirvana da Cruz Formiga, María. No especifíca;Fil: Santos, Erika. Hospital Sirio Libanes; BrasilFil: Sá, Caroline U.. Hospital Sirio Libanes; BrasilFil: Oliveira, Edite P.. Hospital Sirio Libanes; BrasilFil: Fujita, Ricardo. Universidad de San Martín de Porres; PerúFil: Spirandelli, Enrique. No especifíca;Fil: Jimenez, Geiner. No especifíca;Fil: Santa Cruz Guindalini, Rodrigo. Universidade de Sao Paulo; BrasilFil: Gondim Meira Velame de Azevedo, Renata. No especifíca;Fil: Souza Mario Bueno, Larissa. Universidade Federal da Bahia; BrasilFil: dos Santos Nogueira, Sonia Tereza. No especifíca;Fil: Piñero, Tamara Alejandra. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Medicina Traslacional e Ingeniería Biomédica - Hospital Italiano. Instituto de Medicina Traslacional e Ingeniería Biomédica.- Instituto Universitario Hospital Italiano de Buenos Aires. Instituto de Medicina Traslacional e Ingeniería Biomédica; Argentin