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1.
J Natl Cancer Inst ; 116(8): 1333-1342, 2024 Aug 01.
Artículo en Inglés | MEDLINE | ID: mdl-38688563

RESUMEN

BACKGROUND: Physical activity improves physical and psychological health in cancer survivors. This study evaluated Active Living After Cancer (ALAC), a community-based program to improve physical activity, physical function, and quality of life (QOL) in minority and medically underserved cancer survivors and their caregivers. METHODS: Participants completed 12 weekly ALAC sessions and assessments of physical activity, physical functioning, and QOL at baseline and follow-up (week 12). Paired samples t tests were used to assess changes in outcomes over time. RESULTS: A total of 540 cancer survivors (mean age = 61.1 [SD = 11.3] years) and 87 caregivers (mean age = 62.3 [SD = 13.1] years) were enrolled. Most were women (91.4%), Hispanic (61.1%) or non-Hispanic Black (19.3%), and medically underserved (86.4%). The percent of cancer survivors meeting physical activity recommendations increased from 28.9% to 60.2% (d = 0.75), and the number of sit-to-stand repetitions in a 30-second period increased from 12.3 to 14.3 (d = 0.39) from 0-12 weeks. Cancer survivors reported statistically significant improvements in physical (t score Δ = 1.7, d = 0.06) and mental (t score Δ = 2.3, d = 0.31) health-related QOL. Caregivers also improved their physical activity, physical function, and QOL, and there were no statistically significant differences between breast and other cancer survivors and between cancer survivors and caregivers. CONCLUSIONS: The ALAC program demonstrated increased physical activity, physical function, and QOL in medically underserved cancer survivors and their caregivers. Furthermore, ALAC was successfully implemented by community partners and serves as a good model for reaching medically underserved cancer survivors and improving survivorship. Additional efforts are warranted to further extend reach, improve cancer survivorship, and reduce cancer health disparities among underserved cancer survivors.


Asunto(s)
Supervivientes de Cáncer , Cuidadores , Ejercicio Físico , Neoplasias , Calidad de Vida , Humanos , Femenino , Supervivientes de Cáncer/psicología , Persona de Mediana Edad , Masculino , Cuidadores/psicología , Neoplasias/psicología , Neoplasias/terapia , Anciano , Área sin Atención Médica
2.
Bol. méd. Hosp. Infant. Méx ; 81(1): 36-43, Jan.-Feb. 2024. tab, graf
Artículo en Inglés | LILACS-Express | LILACS | ID: biblio-1557187

RESUMEN

Abstract Background: Early detection of suspected neurodevelopmental delay allows for timely diagnosis and appropriate intervention, for which numerous screening tests have been developed. However, most are complex and impractical for health-care workers at the community level. This study aimed to validate the KARVI scale in the neurodevelopment assessment of children under 1 year of age. Methods: We conducted an observational, longitudinal, comparative, inferential, and prospective study. Healthy children without risk factors for developing neurodevelopmental delay from 0 to 12 months of age were evaluated remotely using the Zoom® application. The Child Development Evaluation Test and the KARVI scale were applied once a month for four consecutive months. Results: Fifty individuals were analyzed, with a predominance of males in 52%. Adequate percentages for a screening test were obtained in the first evaluation with a sensitivity of 70% (confidence interval [CI] 95% 34.75-93.33) and a specificity of 75% (CI 95% 58.8-87.31), and in the fourth evaluation with a sensitivity of 100% (CI 95% 29.4-100) and a specificity of 78.72% (CI 95% 64.34-89.3), being significant in both evaluations (p = 0.007 and p = 0.001, respectively). Conclusions: The KARVI scale has the elements to be an effective screening test for suspected neurodevelopmental delay, but more extensive studies are needed to obtain more reliable results.


Resumen Introducción: La identificación temprana de retraso en el neurodesarrollo permite un diagnóstico oportuno y una intervención apropiada. Para ello, se han creado diversas pruebas de tamizaje; sin embargo, la mayoría son complejas y poco prácticas para el personal de la salud a nivel comunitario. El objetivo del estudio fue realizar la validación de la escala KARVI en la valoración del neurodesarrollo en niños menores de un año. Métodos: Se realizó un estudio observacional, longitudinal, comparativo inferencial y prospectivo, en el cual se evaluaron, vía remota mediante la aplicación Zoom®, niños sanos de 0 a 12 meses de edad sin factores de riesgo para desarrollar retraso en el neurodesarrollo. Se aplicaron la prueba EDI (Evaluación del Desarrollo Infantil) y la escala KARVI una vez al mes por cuatro meses consecutivos. Resultados: Se analizaron 50 individuos, con predominio del sexo masculino en el 52%. Se obtuvieron porcentajes adecuados para una prueba de tamizaje tanto en la primera evaluación, con sensibilidad de 70% (IC 95% 34.75-93.33) y especificidad de 75% (IC 95% 58.8-87.31), como en la cuarta, con sensibilidad de 100% (IC 95% 29.4-100) y especificidad de 78.72% (IC 95% 64.34-89.3), con significación estadística en ambas evaluaciones (p = 0.007 y p = 0.001, respectivamente). Conclusiones: Se considera que la escala KARVI cuenta con los elementos para considerarla como una prueba de tamizaje efectiva para detectar retraso del neurodesarrollo, sin embargo. Sin requieren estudios más extensos para obtener resultados más confiables.

3.
BMJ Case Rep ; 17(2)2024 Feb 10.
Artículo en Inglés | MEDLINE | ID: mdl-38341198

RESUMEN

A woman in her late 50s with recent onset of hypertension, diabetes, lumbar pain and unintentional weight loss was diagnosed with a cortisol and androgen-producing adrenal mass. Despite this, serum adrenocorticotropic hormone (ACTH) concentration was inappropriately elevated, which was investigated thoroughly. Investigations included a brain magnetic resonance imaging to exclude concomitant pituitary adenoma, a corticotropin-releasing hormone stimulation test and a gallium-68 DOTATATE and 18F-FDOPA PET scan, both excluding ectopic ACTH production. Considering the disparity between clinical presentation and biochemical results, the ACTH was reanalysed using the Cobas immunoassay (Roche, Switzerland), ultimately unveiling the cause for ACTH elevation. ACTH levels had previously been measured with ACTH Immulite (Siemens, Germany), a two-site immunoassay which is prone to interferences causing falsely elevated ACTH concentrations. Inaccurate laboratory levels can lead to diagnosis delay and unnecessary diagnostic procedures and a close communication between the physicians and laboratorians is of utmost importance.


Asunto(s)
Neoplasias de la Corteza Suprarrenal , Carcinoma Corticosuprarrenal , Femenino , Humanos , Neoplasias de la Corteza Suprarrenal/diagnóstico , Carcinoma Corticosuprarrenal/diagnóstico , Hormona Adrenocorticotrópica , Hidrocortisona , Inmunoensayo , Persona de Mediana Edad
4.
Ann Hematol ; 103(1): 321-334, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-37971549

RESUMEN

The current study includes all consecutive patients (N = 484) who received a reduced-intensity conditioning regimen (RIC) allogeneic hematopoietic stem cell transplantation in our center from 1999 to 2020. Conditioning regimens were based on fludarabine with melphalan or busulfan, with low-dose thiotepa and pharmacological GVHD prophylaxis consisted of cyclosporine A (CsA)-methotrexate (MTX)/mofetil (MMF) (n = 271), tacrolimus-sirolimus (n = 145), and post-transplantation cyclophosphamide (PTCy)-tacrolimus (n = 68). The median time of overall follow-up in survivors was 8 years (1-22 years) and was at least 3 years in all three GVHD prophylaxis groups. Thirty-three percent had a high or very high disease risk index, 56% ≥ 4 European bone marrow transplantation risk, and 65% ≥ 3 hematopoietic stem cell transplantation comorbidity index score-age score. Neutrophil and platelet engraftment was longer for PTCy-tacro (p 0.0001). Cumulative incidence of grade III-IV aGVHD was 17% at 200 days, and that of moderate-severe cGvHD was 36% at 8 years. GVHD prophylaxis was the only prognostic factor in the multivariable analyses for the development of aGVHD and moderate-severe cGVHD (p 0.0001). NRM and relapse incidences were 29% and 30% at 8 years, while OS and PFS rates were 43% and 39% at 8 years. At 3 years, OS was highest in the PTCy-tacro group (68%) than in the tacro-siro (61%) and CsA-MTX/MMF (49%) cohorts (p < 0.01). In the three groups, respectively, the 200-day incidence of grade III-IV aGvHD (6% vs. 12% vs. 23%) and 3-year moderate-severe cGVHD (8% vs. 40% vs. 38%) were lower in the PTCy cohort. These better outcomes were confirmed in multivariable analyses. Based on our recent results, the PTCy could be considered as a real GvHD prophylaxis in the RIC setting due to improve best 3-year GvHD and survival outcomes.


Asunto(s)
Enfermedad Injerto contra Huésped , Enfermedades Hematológicas , Trasplante de Células Madre Hematopoyéticas , Humanos , Ciclofosfamida/uso terapéutico , Ciclosporina/uso terapéutico , Enfermedad Injerto contra Huésped/epidemiología , Enfermedad Injerto contra Huésped/etiología , Enfermedad Injerto contra Huésped/prevención & control , Enfermedades Hematológicas/tratamiento farmacológico , Trasplante de Células Madre Hematopoyéticas/métodos , Metotrexato/uso terapéutico , Tacrolimus/uso terapéutico , Acondicionamiento Pretrasplante/métodos
5.
Hum Genomics ; 17(1): 102, 2023 Nov 16.
Artículo en Inglés | MEDLINE | ID: mdl-37968704

RESUMEN

BACKGROUND: Next-generation sequencing has had a significant impact on genetic disease diagnosis, but the interpretation of the vast amount of genomic data it generates can be challenging. To address this, the American College of Medical Genetics and Genomics and the Association for Molecular Pathology have established guidelines for standardized variant interpretation. In this manuscript, we present the updated Hospital Israelita Albert Einstein Standards for Constitutional Sequence Variants Classification, incorporating modifications from leading genetics societies and the ClinGen initiative. RESULTS: First, we standardized the scientific publications, documents, and other reliable sources for this document to ensure an evidence-based approach. Next, we defined the databases that would provide variant information for the classification process, established the terminology for molecular findings, set standards for disease-gene associations, and determined the nomenclature for classification criteria. Subsequently, we defined the general rules for variant classification and the Bayesian statistical reasoning principles to enhance this process. We also defined bioinformatics standards for automated classification. Our workgroup adhered to gene-specific rules and workflows curated by the ClinGen Variant Curation Expert Panels whenever available. Additionally, a distinct set of specifications for criteria modulation was created for cancer genes, recognizing their unique characteristics. CONCLUSIONS: The development of an internal consensus and standards for constitutional sequence variant classification, specifically adapted to the Brazilian population, further contributes to the continuous refinement of variant classification practices. The aim of these efforts from the workgroup is to enhance the reliability and uniformity of variant classification.


Asunto(s)
Pruebas Genéticas , Variación Genética , Humanos , Estados Unidos , Mutación , Reproducibilidad de los Resultados , Teorema de Bayes , Genoma Humano
6.
Front Immunol ; 14: 1209588, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37346037

RESUMEN

In cancer, activation of the IRE1/XBP1s axis of the unfolded protein response (UPR) promotes immunosuppression and tumor growth, by acting in cancer cells and tumor infiltrating immune cells. However, the role of IRE1/XBP1s in dendritic cells (DCs) in tumors, particularly in conventional type 1 DCs (cDC1s) which are cellular targets in immunotherapy, has not been fully elucidated. Here, we studied the role of IRE1/XBP1s in subcutaneous B16/B78 melanoma and MC38 tumors by generating loss-of-function models of IRE1 and/or XBP1s in DCs or in cDC1s. Data show that concomitant deletion of the RNase domain of IRE1 and XBP1s in DCs and cDC1s does not influence the kinetics of B16/B78 and MC38 tumor growth or the effector profile of tumor infiltrating T cells. A modest effect is observed in mice bearing single deletion of XBP1s in DCs, which showed slight acceleration of melanoma tumor growth and dysfunctional T cell responses, however, this effect was not recapitulated in animals lacking XBP1 only in cDC1s. Thus, evidence presented here argues against a general pro-tumorigenic role of the IRE1/XBP1s pathway in tumor associated DC subsets.


Asunto(s)
Melanoma Experimental , Ribonucleasas , Ratones , Animales , Ribonucleasas/metabolismo , Endorribonucleasas/genética , Endorribonucleasas/metabolismo , Inmunidad Adaptativa , Ribonucleasa Pancreática/metabolismo , Melanoma Experimental/metabolismo , Proteínas Serina-Treonina Quinasas/genética , Proteínas Serina-Treonina Quinasas/metabolismo , Células Dendríticas
7.
Mol Syndromol ; 13(6): 485-495, 2023 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-36660027

RESUMEN

Introduction: Pathogenic variants in the SLC26A2/DTDST gene cause the following spectrum of phenotypes: achondrogenesis 1B (ACG1B), atelosteogenesis 2 (AO2), diastrophic dysplasia (DTD), and recessive-multiple epiphyseal dysplasia (rMED), the first 2 being lethal. Here, we report a cohort and a comprehensive literature review on a genotype-phenotype correlation of SLC26A2/DTDST-related disorders. Methods: The local patients were genotyped by Sanger sequencing or next-generation sequencing (NGS). We reviewed data from the literature regarding phenotype, zygosity, and genotype in parallel. Results: The local cohort enrolled 12 patients, including one with a Desbuquois-like phenotype. All but one showed biallelic mutations, however, only one allele mutated in a fetus presenting ACG1B was identified. The literature review identified 42 articles and the analyses of genotype and zygosity included the 12 local patients. Discussion: The R279W variant was the most prevalent among the local patients. It was in homozygosity (hmz) in 2 patients with rMED and in compound heterozygosity (chtz) in 9 patients. The genotype and zygosity review of all patients led to the following conclusions: DTD is the most common phenotype in Finland due to a Finnish mutation (c.727-1G>C). Outside of Finland, rMED is the most prevalent phenotype, usually associated with R279W in hmz. In contrast, DTD's genotype is usually in chtz. Despite a large number of variants (38), just 8 are recurrent (R279W, C653S, c.-26+2T>C, R178*, K575Sfs*10, V340del, G663R, T512K). The last 3 in hmz lead to lethal phenotypes. The Finnish mutation is found only in chtz outside of Finland, being associated with all 4 classical phenotypes. The p.R178* and p.K575Sfs*10 variants should be viewed as lethal mutations since both were mainly described with lethal phenotypes and were never reported in hmz. The existence of 9 patients with only one mutated allele suggests that other mutations in the other allele of these patients still need to be unveiled.

9.
Acta Med Port ; 36(1): 55-58, 2023 Jan 02.
Artículo en Inglés | MEDLINE | ID: mdl-35394421

RESUMEN

Neurofibromatosis type 1 (NFT1) is a disease caused by mutations in the tumor suppressor gene NF1. It is associated with a higher incidence of chromaffin cell tumors which are usually adrenal, unilateral and benign. The presence of these tumors during pregnancy is extremely rare and frequently associated with fatal outcomes. We report the case of a female patient with NFT1, who presented with paroxysmal spells of headache, palpitations, dizziness and pre-cordial discomfort, starting immediately after the delivery of her third child. Diagnostic work-up came to reveal a bilateral pheochromocytoma and the patient underwent bilateral adrenalectomy. Over 12 years after the initial surgery, metastatic disease was diagnosed, and a reintervention was performed. This is a rare presentation of bilateral malignant pheochromocytoma in a patient with NFT1, with postpartum occurrence of the first symptoms. This text focuses the important details and challenges found at each stage of diagnosis and follow-up.


A neurofibromatose tipo 1 (NFT1) é uma doença causada por mutações no gene supressor de tumor NF1. Está associada a uma maior incidência de tumores de células cromafins que geralmente são adrenais, unilaterais e benignos. A presença destes tumores durante a gravidez é extremamente rara e com frequência associada a resultados fatais. Relatamos o caso de uma doente com NFT1, que apresentou crises paroxísticas de cefaleias, palpitações, tonturas e desconforto pré-cordial, com início imediatamente após o parto de seu terceiro filho. A investigação diagnóstica revelou feocromocitoma bilateral e a doente foi submetida a adrenalectomia bilateral. Mais de 12 anos após a cirurgia inicial, foi diagnosticada doença metastática e efetuada reintervenção. Esta é uma apresentação rara de feocromocitoma maligno bilateral numa doente com NFT1, com ocorrência pós-parto dos primeiros sintomas. Este texto foca detalhes e desafios importantes encontrados em cada fase do diagnóstico e acompanhamento.


Asunto(s)
Neoplasias de las Glándulas Suprarrenales , Neoplasias Encefálicas , Neurofibromatosis 1 , Paraganglioma , Feocromocitoma , Femenino , Humanos , Embarazo , Neoplasias de las Glándulas Suprarrenales/complicaciones , Neoplasias de las Glándulas Suprarrenales/diagnóstico , Neoplasias de las Glándulas Suprarrenales/cirugía , Neoplasias Encefálicas/complicaciones , Estudios de Seguimiento , Neurofibromatosis 1/complicaciones , Neurofibromatosis 1/patología , Feocromocitoma/complicaciones , Feocromocitoma/diagnóstico , Feocromocitoma/cirugía
10.
Arch. pediatr. Urug ; 94(2): e216, 2023. tab
Artículo en Español | LILACS, UY-BNMED, BNUY | ID: biblio-1520116

RESUMEN

El síndrome inflamatorio multisistémico asociado a COVID-19 es una presentación postinfecciosa, que puede ser particularmente grave, pudiendo producir una severa disfunción multiorgánica. Se presenta una serie de 6 casos clínicos, asistidos en Servicio Médico Integral, Montevideo-Uruguay, con el fin de exponer las características clínicas y paraclínicas de este nuevo síndrome, y la evolución clínica de los mismos. Se realiza un estudio observacional descriptivo. La edad media fue de 6 años, con predominio en sexo femenino. Estos pacientes tuvieron una presentación clínica leve a moderada, con buena evolución Las manifestaciones clínicas principales fueron: fiebre, compromiso gastrointestinal, mucocutáneo y afectación ocular; dos de estos pacientes presentaron compromiso cardiovascular. Todos tuvieron alteraciones en la paraclínica, destacándose reactantes de fase aguda elevados. Todos los pacientes recibieron inmunoglobulina intravenosa y corticoides, tres de ellos recibieron heparina de bajo peso molecular por valor de D-dímeros 5 veces por encima del valor de referencia. No descartamos el impacto del diagnóstico y tratamiento precoz en la buena evolución de estos niños.


The Multisystem Inflammatory Syndrome associated with COVID-19 is a postinfectious presentation, which can be particularly serious, and can produce severe multiorgan dysfunction. A report of 6 clinical cases, assisted in the Comprehensive Medical Service, Montevideo-Uruguay, is presented in order to expose the clinical and paraclinical characteristics of this new syndrome, and their clinical evolution. A descriptive observational study was carried out. The mean age was 6 years, with a predominance of females. These patients had a mild to moderate clinical presentation, with good evolution. The main clinical manifestations were: fever, gastrointestinal and mucocutaneous involvement, and ocular involvement; two of these patients had cardiovascular compromise. All had alterations in the paraclinical, standing out elevated acute phase reactants. All patients received intravenous immunoglobulin and corticosteroids, three of them received low molecular weight heparin with a value of D-dimers 5 times higher than the reference value. We do not rule out the impact of early diagnosis and treatment on the positive evolution of these children.


A Síndrome Inflamatória Multissistêmica associada à COVID-19 é uma apresentação pósinfecciosa, que pode ser particularmente grave e produzir disfunção grave de múltiplos órgãos. Apresentamos um relato de 6 casos clínicos, atendidos no Serviço Médico Integral, Montevidéu-Uruguai, com o objetivo de expor as características clínicas e para clínicas desta nova síndrome, e sua evolução clínica. Tratase de um estudo observacional descritivo. A média de idade foi de 6 anos, com predomínio do sexo feminino. Esses pacientes tinham apresentação clínica leve a moderada, com boa evolução. As principais manifestações clínicas foram: febre, envolvimento gastrointestinal, muco cutâneo e ocular; dois desses pacientes apresentaram comprometimento cardiovascular. Todos apresentavam alterações para clínicas, destacandose elevados reagentes na fase aguda. Todos os pacientes receberam imunoglobulina e corticosteroides endovenosos, três deles receberam heparina de baixo peso molecular com valor do dímero D 5 vezes acima do valor de referência. Não descartamos o impacto do diagnóstico e tratamento precoces na evolução positiva dessas crianças.


Asunto(s)
Humanos , Masculino , Femenino , Preescolar , Niño , Síndrome de Respuesta Inflamatoria Sistémica/diagnóstico , Síndrome de Respuesta Inflamatoria Sistémica/etiología , Síndrome de Respuesta Inflamatoria Sistémica/tratamiento farmacológico , COVID-19/complicaciones
11.
Molecules ; 27(5)2022 Mar 03.
Artículo en Inglés | MEDLINE | ID: mdl-35268772

RESUMEN

Consumers are increasingly looking for foods, including wine, that are free of animal-derived proteins. This study seeks to evaluate patatin, a new, plant-based and allergen-free fining agent, by comparing it with the fining agents polyvinipolypyrrolidone, bovine serum albumin, and methylcellulose. Specifically, its effects on the phenolic profile of enological tannins were analyzed with four spectrophotometric assays: OD 280 nm, Folin−Ciocâlteu, Adams−Harbertson, and methylcellulose. In addition, changes in the polyphenol composition of Sangiovese red wine were determined by UV-Vis spectrophotometry and HPLC with adsorption trials, and the solid−liquid interaction in a wine solution was modeled by both Langmuir and Freundlich equations. Our findings highlight the occurrence of systematic proportional error between the selected spectrophotometric assays. As a result, direct comparisons of protein precipitation assays can be made only among results obtained with the same spectrophotometric method. However, it is clear that patatin has an impact on the phenolic profile of Sangiovese red wine: it removes simple phenolics (gallic acid, (+)-catechin, (−)-epicatechin, epicatechin gallate, syringic acid, fertaric acid, coutaric acid, and rutin) as well as both oligomeric and polymeric tannins to different extents. In concentrations of less than 1 g/L, the patatin isotherm showed a linear relation between the equilibrium concentration and the quantity absorbed, obeying the Freundlich model reasonably well (KF 1.46; 1/n 1.07; R2 0.996 with 1/n > 1). Thus, the adsorption process is strongly dependent on the fining dosage.


Asunto(s)
Vino , Adsorción , Cromatografía Líquida de Alta Presión , Albúmina Sérica Bovina , Taninos/análisis , Vino/análisis
13.
Environ Res ; 204(Pt B): 111981, 2022 03.
Artículo en Inglés | MEDLINE | ID: mdl-34499895

RESUMEN

The diet is the main route that polycyclic aromatic hydrocarbons (PAHs) enter the body and measuring breast milk is one of the best ways to understand the maternal body burden and can be passed on to infants. In this study, it was determinate the concentrations of 23 PAHs in 60 milk samples taken from 3 cities in Colombia and to determine the potential routes of exposure and risk to human health. On average, concentration for the ∑PAHs across all locations was 186.6 ng g-1, lipid mass (LM), with city means of 260.1, 175.7, and 123.9 ng g-1 LM for Cartagena, Bogota and Medellin, respectively. Monte Carlo simulations were used to estimate the hazard quotient (HQ) and incremental lifetime cancer risk (ILCR) for infant dietary exposure to PAHs. HQs were below the safe thresholds (HQ = 1) while ILCRs were greater than the reference value equal to 10-6 (mg kg-1day-1). Dietary source assessment indicated that fish is a significant source of PAHs, with mothers that consumed fish at least once per week having ∼2.5 times greater PAH milk concentrations than other groups. While a disparity was also observed among consumers of exclusively marine (∑PAHs 198.5 ng g-1 LM) or freshwater fish (∑PAHs 85.7 ng g-1 LM). However, geographical considerations can be significant in this finding.


Asunto(s)
Hidrocarburos Policíclicos Aromáticos , Animales , China , Colombia , Monitoreo del Ambiente , Femenino , Humanos , Lactante , Leche Humana/química , Hidrocarburos Policíclicos Aromáticos/análisis , Medición de Riesgo
14.
Haematologica ; 107(3): 593-603, 2022 03 01.
Artículo en Inglés | MEDLINE | ID: mdl-33691382

RESUMEN

Genome complexity has been associated with poor outcome in patients with chronic lymphocytic leukemia (CLL). Previous cooperative studies established five abnormalities as the cut-off that best predicts an adverse evolution by chromosome banding analysis (CBA) and genomic microarrays (GM). However, data comparing risk stratification by both methods are scarce. Herein, we assessed a cohort of 340 untreated CLL patients highly enriched in cases with complex karyotype (CK) (46.5%) with parallel CBA and GM studies. Abnormalities found by both techniques were compared. Prognostic stratification in three risk groups based on genomic complexity (0-2, 3- 4 and ≥5 abnormalities) was also analyzed. No significant differences in the percentage of patients in each group were detected, but only a moderate agreement was observed between methods when focusing on individual cases (κ=0.507; P<0.001). Discordant classification was obtained in 100 patients (29.4%), including 3% classified in opposite risk groups. Most discrepancies were technique-dependent and no greater correlation in the number of abnormalities was achieved when different filtering strategies were applied for GM. Nonetheless, both methods showed a similar concordance index for prediction of time to first treatment (TTFT) (CBA: 0.67 vs. GM: 0.65) and overall survival (CBA: 0.55 vs. GM: 0.57). High complexity maintained its significance in the multivariate analysis for TTFT including TP53 and IGHV status when defined by CBA (hazard ratio [HR] 3.23; P<0.001) and GM (HR 2.74; P<0.001). Our findings suggest that both methods are useful but not equivalent for risk stratification of CLL patients. Validation studies are needed to establish the prognostic value of genome complexity based on GM data in future prospective studies.


Asunto(s)
Leucemia Linfocítica Crónica de Células B , Aberraciones Cromosómicas , Bandeo Cromosómico , Genómica , Humanos , Leucemia Linfocítica Crónica de Células B/diagnóstico , Leucemia Linfocítica Crónica de Células B/genética , Mutación , Pronóstico , Medición de Riesgo
15.
Braz. arch. biol. technol ; Braz. arch. biol. technol;65: e22210342, 2022. tab, graf
Artículo en Inglés | LILACS-Express | LILACS | ID: biblio-1364458

RESUMEN

Abstract: Virus-based biopesticides are effective biocontrol agents of crop insect pests. Development of suitable formulations and production processes are necessary to obtain high-quality products easily adopted by farmers. A detailed unit operation study was carried out for the production process of a Phthorimaea operculella granulovirus-based biopesticide to control the tomato leafminer, Tuta absoluta, one of the most important pests affecting this crop. Physicochemical, microbiological, and insecticidal parameters were implemented in the process and applied to the finished product, and a scaling strategy was developed. A Quantitative Polymerase Chain Reaction (Q-PCR) technique was implemented to quantify viral concentrations in the active ingredient (5.34 ± 1.44 x109 Occlusion Bodies mL-1) and in the finished product (>1.6x109 OB mL-1), without contaminant interferences. The Q-PCR methodology was also useful to select the appropriate solid mixing time following Lacey´s mixing index (8 min). Factors and similarity principles influencing the liquid mixing process were identified in the scaling evaluation. Furthermore, the drying kinetics analysis enabled identifying a drying temperature of 35 °C, with an efficacy under controlled conditions higher than 97%. Contaminant concentration was lower than 1%, indicating controlled and aseptic formulation process conditions. A simple statistical method was used to estimate the reproducibility and repeatability of the parameters assessed in the finished product. These results enable to establish and extrapolate important parameters in the standardization, scale-up, and quality control for the granulovirus-based biopesticide.

16.
Rare Tumors ; 13: 20363613211026494, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34262677

RESUMEN

Adrenocortical carcinomas (ACC) are aggressive tumors with a poor prognosis. Histological scores are advised for the diagnosis, however, there are borderline cases that may be misjudged as adrenocortical adenomas (ACA). The three main scores used are: Weiss Modified System (WMS), Reticulin Algorithm (RA), and Helsinki Score (HS). We intend to compare the accuracy of the three scores in ACC diagnosis and to identify predictive factors of overall survival (OS). Retrospective study (2004-2016) at Centro Hospitalar e Universitário de Coimbra of the adrenal tumors, classified as ACC or ACA, with a history of posterior tumor relapse/metastases, without lesions in the contralateral adrenal gland: 13F and 6M, with a median age of 51 ± 12.41 years. Nodules' median size was 9.20 ± 6.2 cm. Patients had a median OS of 52 ± 18.6 months, with 57.9% and 46.3%, at 3 and 5 years. Seven patients had local recurrence and nine had metastases. Thirteen cases were in stage II. The WMS and the HS allowed a diagnosis of ACC in 15 cases and the RA defined ACC in 17 cases. All cases had, at least, focal disruption of the reticulin framework. More than 5 mitosis/50 HPF was associated with worse OS: 49.67 ± 21.43 versus 108.86 ± 14.02 months (p = 0.026). In patients with stage II, tumor size ⩾10 cm was associated with worse OS: 19.25 ± 7.15 versus 96.11 ± 16.7 months (p = 0.007), confirmed by multivariate analysis (p = 0.031). The correct diagnosis of ACC is a pathologist responsibility. The RA seems the most accurate. Any loss of the reticulin framework should raise awareness for malignancy. In patients on stage II, a size ⩾10 cm is a predictor of worse prognosis.

18.
Biota Neotrop. (Online, Ed. ingl.) ; 21(2): e20201041, 2021. tab, graf
Artículo en Inglés | LILACS-Express | LILACS | ID: biblio-1285458

RESUMEN

Abstract: The main goal of this work was to investigate how the abundance and richness of Arctiinae moths varies over time, during the night. Specifically, we analyzed the following questions: (1) Is there a relationship between Arctiinae abundance and richness with the temperature and relative humidity? (2) What are the hours of activity of each species of moth? (3) Does the species composition differ over night? (4) Is it necessary to sample this group of moths throughout the night to have a representative sample of the species? We sampled the moths in Emas National Park (17°49'-18°28'S and 52°39'-53°10'W), Brazil. We selected seven sampling points in an area of savanna. At each sampling point, we collected the Arctiinae moths with a light trap (with a 15-W black light fluorescent light bulb), reflected in a white cloth (2 x 3 m) extended vertically. We sampled the moths in seven consecutive nights (one night in each sampling point, from December 13 to December 19, 2012, from 7 p.m. until 7 a.m.). We divided the samplings in twelve periods over the night, with an hour each. At each period of time, we measured the temperature and the relative humidity with a digital termohygrometer. We sampled 149 individuals belonging to 17 species of Arctiinae moths. Most species (70.5%) were active only for one or two hours at night. The species differed in terms of time activity. The higher abundance occurred at 8 p. m. (44 individuals), followed by 38 individuals at 9 p. m. and 23 at 10 p. m. The species richness was also higher in the early hours of the night. The temperature was the only variable that showed a positive and significative relationship with the Arctiinae moth abundance. The species richness was not influenced neither by the temperature nor by the relative air humidity. The possible causes of the peak of abundance and species richness in specific hours of the night are discussed.


Resumo: Este trabalho teve como objetivo principal investigar como a abundância e a riqueza de mariposas Arctiinae variam temporalmente, ao longo do período noturno. Especificamente, analisamos as seguintes questões: (1) existe relação entre a abundância e a riqueza de Arctiinae e a umidade relativa do ar e a temperatura? (2) qual é o horário de atividade de cada espécie de mariposa? (3) a composição de espécies difere ao longo da noite? (4) é necessário amostrar esse grupo de mariposas ao longo de toda a noite para ter uma amostra representativa das espécies? Realizamos as amostragens no Parque Nacional das Emas (17°49'-18°28'S e 52°39'-53°10'W), Brasil. Selecionamos sete pontos amostrais em uma área de campo cerrado. Em cada ponto, coletamos as mariposas Arctiinae utilizando uma fonte luminosa (lâmpada UV de 15 W) refletida em um pano branco (2 x 3 m) estendido na vertical. Coletamos as mariposas durante sete noites consecutivas (uma noite por ponto, entre os dias 13 e 19 de dezembro de 2012, das 19:00 até as 07:00). Dividimos o período noturno em doze faixas de uma hora. Medimos a temperatura e a umidade relativa do ar com auxílio de um termohigrômetro digital. Amostramos 149 indivíduos pertencentes a 17 espécies de mariposas Arctiinae. A maioria das espécies (70,5%) esteve ativa apenas por uma ou duas horas durante a noite. As espécies diferiram em termos de horário de atividade. O horário das 20 h apresentou uma maior abundância (44 indivíduos), seguido do horário das 21 (38) e das 22 h (23). A riqueza também foi maior nas primeiras horas da noite. Somente a temperatura foi positivamente correlacionada com a abundância de mariposas. A riqueza de mariposas não foi influenciada nem pela temperatura nem pela umidade relativa do ar. As possíveis causas das diferenças em termos de horários de atividade são discutidas..

19.
Ecancermedicalscience ; 14: 1102, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-33082852

RESUMEN

Mexico is an upper-middle income country located in North America, with an increasing life expectancy and a growing population of older adults. Due to population ageing and lifestyle changes, the number of cancer cases amongst older individuals is expected to increase in the upcoming decades, representing a challenge to the healthcare system. The challenges for implementing geriatric oncology care in Mexico include a fragmented healthcare system, as well as the lack of geriatric training amongst healthcare professionals. In this mini-review, we present an overview of the epidemiology of cancer amongst older adults in Mexico, the Mexican healthcare system and ongoing initiatives for the development of geriatric oncology programmes in the country. In addition, we highlight the priorities for future developments in the field of cancer and ageing in Mexico, with a focus on the various stakeholders involved.

20.
Mycopathologia ; 185(4): 639-652, 2020 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-32564177

RESUMEN

Broad-spectrum antifungal prophylaxis is currently considered the standard of care for adults with de novo AML for the prevention of invasive fungal infections (IFIs), especially invasive pulmonary aspergillosis (IPA). Because fluconazole has been used in our center as anti-yeast prophylaxis, we sought to analyze in detail the incidence of IFIs over a 17-year period, as well as their impact on outcome. A standardized protocol of patient management, including serum galactomannan screening and thoracic CT-guided diagnostic-driven antifungal therapy, was used in all patients. A total of 214 consecutive adults with de novo AML who were treated in 3 CETLAM (Grupo Cooperativo para el Estudio y Tratamiento de las Leucemias Agudas y Mielodisplasias) protocols from 2002 to 2018 were included. The 90-day incidence of any IFI (including possible cases) was 11% (95% CI 4-15%), most cases occurred during induction chemotherapy (8%, 95% CI 4-12%), and most cases were probable/proven IPA (8%, 95% CI 3-13%). Developing an IFI during induction and consolidation had no impact on 1-year survival. A case-control study with 23 cases of IPA and 69 controls identified induction/re-induction chemotherapy, chronic pulmonary disease and age > 60 years/poor baseline performance status as potential pretreatment risk factors. The current study proves that inpatient induction and consolidation chemotherapy for de novo AML can be given in areas with "a priori" high-burden of airborne molds with fluconazole prophylaxis, while the selective use of anti-mold prophylaxis in patients at very high risk may further reduce the incidence of IFI in this specific clinical scenario.


Asunto(s)
Antifúngicos , Quimioterapia de Consolidación , Infecciones Fúngicas Invasoras , Leucemia Mieloide Aguda , Adulto , Antifúngicos/uso terapéutico , Estudios de Casos y Controles , Humanos , Infecciones Fúngicas Invasoras/epidemiología , Infecciones Fúngicas Invasoras/prevención & control , Leucemia Mieloide Aguda/tratamiento farmacológico , Leucemia Mieloide Aguda/microbiología , Persona de Mediana Edad , Estudios Retrospectivos
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