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INTRODUCTION: The association of APOL1 risk variants with cardiovascular risk and cardiovascular disease (CVD) in observational and clinical trials has had inconsistent results. We aim to assess the relationship between the presence of APOL1 risk variants and the CVD risk in Afro-descendant patients with end-stage renal disease (ESRD). METHODS: We performed an observational, cross-sectional study of Afro-descendant adult patients with ESRD who were on the waitlist for a kidney transplant. Associations of APOL1 genotypes (high-risk [HR] = 2 alleles; low-risk [LR] = 0 or 1 allele) with cardiovascular risk were the primary clinical endpoint. The relation was evaluated using univariate and multivariate analysis. RESULTS: We enrolled a total of 102 patients with ESRD; 37% (38 patients) had APOL1 HR status with two alleles in homozygous (G1/G1 = 21 and G2/G2 = 3) or compound heterozygote (G1/G2 = 14) form and 63% (64 patients) had APOL1 LR status. No significant association was found between HR APOL1 genotypes and high cardiovascular risk (in adjusted Colombia Framingham Risk Score). APOL1 HR versus LR variants were not independently associated with left ventricular hypertrophy or systolic dysfunction. No cardiovascular deaths occurred during the follow-up. CONCLUSION: In Afro-descendent patients with ESRD, APOL1 HR status is not associated with the increase in cardiovascular risk profile and metabolic disturbances.
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Apolipoproteína L1 , Doenças Cardiovasculares , Falência Renal Crônica , Adulto , Humanos , Apolipoproteína L1/genética , Doenças Cardiovasculares/genética , Estudos Transversais , Predisposição Genética para Doença , Genótipo , Falência Renal Crônica/genética , Fatores de Risco , População NegraRESUMO
Contexto: los pacientes con trasplante de riñón parecen tener un riesgo particularmente alto de enfermedad grave por COVID-19 debido a la inmunosupresión y la presencia de comorbilidades. Objetivo: describir las características clínicas, paraclínicas y desenlaces de los pacientes trasplantados renales que presentan infección por SARS-COV-2 en un hospital de cuarto nivel en Cali, Colombia. Metodología: realizamos un estudio observacional de receptores de trasplante renal con infección por SARS-CoV-2 ingresados ââen la Fundación Valle del Lili, de junio a diciembre del 2020. Para ser elegibles en el estudio, los pacientes debían presentar síntomas compatibles, RT-PCR positiva y manejo hospitalario. Se excluyó a los pacientes asintomáticos. Resultados: inscribimos a un total de 50 pacientes, donde el 64 % eran hombres y la edad media fue de 53,5 años (rango 46-60). Las comorbilidades fueron: 36 (70 %) con hipertensión, 16 (32 %) con diabetes mellitus y 5 (10 %) con obesidad y los regímenes inmunosupresores más comunes fueron: tacrolimus, micofenolato y prednisona. La mediana de tiempo desde el inicio de los síntomas hasta la RT-PCR positiva fue de siete días. Los síntomas iniciales más comunes fueron fiebre (64 %), fatiga (58%), tos (44%) y disnea (36%). Los niveles basales de proteína C reactiva (PCR) fueron de 6,43 mg/dl (3,25-11,22), la mediana del recuento de linfocitos fue de 785 mm3/uL (550-1230), el dímero D basal fue de 0,767 ug/ml (0,484-1153,5) y el nivel medio de ferritina fue de 1011 ng/ml (670-2145). El 40 % desarrolló lesión renal aguda (20 pacientes), de los cuales 11 pacientes necesitaron terapia de remplazo renal, 6 de los pacientes fallecieron (12 %), 4/6 por insuficiencia multiorgánica relacionada con la sepsis y 2/6 por el síndrome de dificultad respiratoria agudo (SDRA). Conclusiones: las complicaciones mayores como la lesión renal aguda, el síndrome de dificultad respiratoria aguda y la mortalidad relacionada con la infección por COVID-19 observadas en nuestro estudio son significativas, pero menos frecuentes que las reportadas en otros países.
Background: Patients with kidney transplants seem to be at particularly high risk for severe COVID19 disease due to their impaired immune responses and comorbidities. Purpose: This study aims to describe kidney transplant patients' clinical characteristics and outcomes with SARSCOV-2 infection in a fourth-level hospital in Cali, Colombia. Methodology: We performed an observational study of kidney transplant recipients with SARS-CoV2 infection admitted at Fundación Valle del Lili from June to December 2020. To be eligible for this study, patients have symptoms compatible, a positive RT-PCR and inpatient management. Asymptomatic patients were excluded. Results: We enrolled a total of 50 patients. 64% were male, and the median age was 53.5 years (range 46-60). The comorbidities were 36 (70%) hypertension, 16 (32%) diabetes mellitus, 5 (10%) obesity. The most common immunosuppressive regimen was tacrolimus, mycophenolate and prednisone. The median time from symptoms onset to the positive RT-PCR was 7 days. The most common initial symptom was fever (64%), and fatigue (58%), cough (44%) and dyspnea (36%). Baseline levels of CRP was 6.43 mg/dL (3.25-11.22). The median lymphocyte count was 785 mm3/uL (550-1230). Baseline D-Dimer was 0.767 ug/ml (0.484-1153.5), ferritin median level was 1011ng/ml (670-2145). Six of the patients died (12%), 4/6 were by sepsis-related multi-organ failure and 2/6 were by ARDS. Conclusions: Major complications such as acute kidney injury, acute respiratory distress syndrome and mortality related to COVID-19 infection observed in our study are lower than those reported in other countries.
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La tuberculosis es la primera causa de mortalidad infectocontagiosa a nivel mundial. La tuberculosis pulmonar corresponde a la presentación más frecuente, sin embargo, el 15 % de los casos cursan con infección extrapulmonar, siendo raro el compromiso amigdalino. Este reporte de caso describe a un paciente de 39 años con odinofagia recurrente secundaria a amigdalitis por Mycobacterium tuberculosis, un raro caso de tuberculosis extrapulmonar. La amigdalitis es una infección leve y frecuente de la vía aérea superior, que responde adecuadamente al manejo antibiótico; sin embargo, cuadros recurrentes y prolongados, manifestaciones atípicas o pobre respuesta a la antibioticoterapia son características que obligan a la búsqueda de diagnósticos diferenciales, lo que lleva a considerar la presencia de Mycobacterium tuberculosis como agente etiológico, especialmente en países con alto índice de tuberculosis como Colombia
Tuberculosis is the leading cause of infectious mortality worldwide. The pulmonary one corresponds to the most frequent presentation, however up to 15% of tuberculosis cases present extrapulmonary involvement, tonsillar tuberculosis being rare. The following is a case report of a 39-year-old patient with recurrent odynophagia secondary to Mycobacterium tuberculosis tonsillitis, a rare form of extrapulmonary tuberculosis. Tonsillitis is a benign and extremely common infection of the upper airway. Such patients benefit from systemic antibiotics, although, recurrent episodes, prolonged odynophagia, atypical manifestations, or poor response to antimicrobial therapy forces consideration of diagnostic possibilities other than the obvious, including Mycobacterium tuberculosis as the etiological agent, especially in countries with the highest rates of tuberculosis.
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Humanos , Masculino , Adulto , Tuberculose Pulmonar/complicações , Tonsilite/microbiologia , Tuberculose Pulmonar/tratamento farmacológico , Tuberculose Pulmonar/diagnóstico por imagem , Tonsilite/tratamento farmacológico , Tonsilite/diagnóstico por imagem , Antibacterianos/uso terapêuticoRESUMO
Resumen Objetivo: determinar el efecto de un programa de rehabilitación en los puntajes de ansiedad y depresión de pacientes con enfermedad cardiovascular. Materiales y métodos: se analizó la información de una cohorte retrospectiva de pacientes con enfermedad cardiovascular, admitidos a un programa de rehabilitación cardiaca. La ansiedad y depresión fueron medidas con la escala HADS (Hospital Anxiety and Depression Scale) y se categorizaron según el tratamiento de base recibido (médico o quirúrgico). Se comparó el cambio en los puntajes de ansiedad y depresión al ingreso y al final de la rehabilitación cardiaca mediante la prueba de Wilcoxon para muestras pareadas y la prueba de McNemar para evaluar el cambio de los porcentajes en cada subescala. Resultados: se incluyeron 1.221 pacientes. La mediana de edad fue 61 años, 68,30% eran hombres. Al ingreso, la mediana del puntaje de ansiedad y depresión fue 3, de los cuales 141 pacientes presentaron un trastorno de ansiedad (11,55%) y 67 un trastorno depresivo (5,49%). Al final de la rehabilitación cardiaca se obtuvo una mejoría en los puntajes de ansiedad y depresión tanto en pacientes en tratamiento médico (promedio -1,87 puntos 95% IC -2,14 a -1,60 p<0,01 y -1,46 puntos 95% IC -1,72 a -1,21 p<0,01 respectivamente) como quirúrgico (promedio -1,48 puntos 95% IC -1,78 a -1,18 p<0,01 y -1,83 puntos 95% IC -2,12 a -1,57 p<0,01). Conclusiones: los puntajes de ansiedad y depresión, en pacientes con enfermedad cardiovascular en tratamiento médico o quirúrgico, mejoraron luego de un programa integral de rehabilitación cardíaca.
Abstract Objective: To determine the effects of a rehabilitation program on the anxiety and depression scores of patients with cardiovascular disease. Materials and methods: An analysis was performed on the information collected from a retrospective cohort of patients with cardiovascular disease, admitted to a cardiac rehabilitation program. Anxiety and depression were measured using the Hospital Anxiety and Depression Scale (HADS), and were classified according to the baseline treatment (medical or surgical) received. A comparison was made between the anxiety and depression scores on admission and at the end of the cardiac rehabilitation program using Wilcoxon test for paired samples and the McNemar test to evaluate the change in the percentages in each sub-scale. Results: A total of 1,221 patients were included. The median age was 61 years, and 68.3% were males. On admission, the median score was 3 on the anxiety and depression scale, with 141 (11.55%) patients having an anxiety disorder, and 67 (5.49%) with depressive disorder. An improvement was observed in the anxiety and depression scores at the end of the end of the cardiac rehabilitation, both in patients on medical treatment (mean difference minus 1.87 points, 95% CI; -2.14 to -1.60: P<.01, and -1.46 points, 95% CI; -1.72 to -1.21: P<.01, for anxiety and depression, respectively) and on surgical treatment (mean difference -1.48 points, 95% CI; -1.78 to -1.18, P<.01 and -1.83 points, 95% CI -2.12 to -1.57, P<.01, respectively). Conclusions: The anxiety and depression scores in patients with cardiovascular disease on medical or surgical treatment improved after an integrated cardiac rehabilitation program.
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Humanos , Masculino , Pessoa de Meia-Idade , Transtornos de Ansiedade , Reabilitação , Transtorno Depressivo , Reabilitação Cardíaca , Ansiedade , Transtornos de Ansiedade , Exercício Físico , Fatores de Risco de Doenças CardíacasRESUMO
In 2014, vaccinia virus (VACV) infections were identified among farmworkers in Caquetá Department, Colombia; additional cases were identified in Cundinamarca Department in 2015. VACV, an orthopoxvirus (OPXV) used in the smallpox vaccine, has caused sporadic bovine and human outbreaks in countries such as Brazil and India. In response to the emergence of this disease in Colombia, we surveyed and collected blood from 134 farmworkers and household members from 56 farms in Cundinamarca Department. We tested serum samples for OPXV antibodies and correlated risk factors with seropositivity by using multivariate analyses. Fifty-two percent of farmworkers had OPXV antibodies; this percentage decreased to 31% when we excluded persons who would have been eligible for smallpox vaccination. The major risk factors for seropositivity were municipality, age, smallpox vaccination scar, duration of time working on a farm, and animals having vaccinia-like lesions. This investigation provides evidence for possible emergence of VACV as a zoonosis in South America.
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Doenças Transmissíveis Emergentes/epidemiologia , Doenças Transmissíveis Emergentes/virologia , Vaccinia virus , Vacínia/epidemiologia , Vacínia/virologia , Zoonoses/epidemiologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Agricultura , Animais , Criança , Colômbia/epidemiologia , Feminino , Humanos , Imunoglobulina G/imunologia , Imunoglobulina M/imunologia , Masculino , Pessoa de Meia-Idade , Orthopoxvirus/imunologia , Fatores de Risco , Estudos Soroepidemiológicos , Vaccinia virus/imunologia , Adulto JovemRESUMO
BACKGROUND: Endothelial growth factor receptor (EGFR) mutations are an essential driver of personalized therapy for patients with lung cancer and are detected in approximately 15% of Caucasian and 50% of Asian patients. EGFR tyrosine kinase inhibitors have been developed and used for this set of patients. T790M mutation in exon 20 is usually associated with secondary resistance to EGFR tyrosine kinase inhibitors therapy but is also present in treatment-naïve patients. The frequency for baseline T790M mutation varies from 4 to 35% according to the detection method used. Newer techniques have yielded higher rates, but concerns about false-positive results have been raised. Compound mutations account for 4-14% of all EGFR-mutated tumors, with no studies yet to provide a frequency rate for T790M + 19 deletion association due to the small number of cases. However, there are reports that pretreatment T790M + L858R association is significantly more frequent compared to T790M + exon 19 deletion mutations. Diagnostic challenges, current knowledge on the subject, and therapeutic decisions are discussed. CASE PRESENTATION: We present the case of a 43-year-old Hispanic woman, a treatment-naïve patient, with metastasized lung cancer adenocarcinoma harboring a T790M deletion along with the classic 19 mutation. The initial symptoms were monoparesis of her left leg, associated with hyperreflexia, and hypoesthesia. In the absence of third-generation tyrosine kinase inhibitors, a platinum-based therapy was initiated with no response and she died 4 months after diagnosis. CONCLUSIONS: Osimertinib seems to be a suitable therapy for treatment-naïve patients with sensitizing and resistant compound EGFR mutations. More studies regarding the clinical characteristics of these patients and the appropriate management of this condition are needed to provide the highest standard of care.
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Adenocarcinoma de Pulmão/patologia , Neoplasias Ósseas/secundário , Hipestesia/patologia , Extremidade Inferior/patologia , Neoplasias Pulmonares/patologia , Adenocarcinoma de Pulmão/diagnóstico por imagem , Adenocarcinoma de Pulmão/tratamento farmacológico , Adulto , Neoplasias Ósseas/diagnóstico por imagem , Neoplasias Ósseas/tratamento farmacológico , Análise Mutacional de DNA , Receptores ErbB/genética , Receptores ErbB/uso terapêutico , Éxons , Evolução Fatal , Feminino , Humanos , Hipestesia/diagnóstico por imagem , Hipestesia/etiologia , Extremidade Inferior/diagnóstico por imagem , Neoplasias Pulmonares/diagnóstico por imagem , Neoplasias Pulmonares/tratamento farmacológico , Imageamento por Ressonância Magnética , Inibidores de Proteínas Quinases/uso terapêutico , Reflexo Anormal , Deleção de SequênciaRESUMO
Introducción: los estudios inmunohematológicos que se realizan a los donantes de sangre se orientan a proporcionar al receptor una terapia transfusional compatible con el sistema sanguíneo ABO y antígeno D del sistema Rh. Sin embargo, como una forma de incrementar la seguridad transfusional, surge el interés de ampliar la gama de antígenos a determinar y por ende, a compatibilizar previo a una transfusión sanguínea. Objetivo: determinar la frecuencia de los cinco antígenos mayores del sistema Rh y los antígenos K1 y K2 del sistema Kell en donantes voluntarios de sangre. Métodos: Estudio descriptivo transversal que incluyó 200 donantes voluntarios de sangre del Centro Productivo Regional de Sangre del Maule (CPRSM) seleccionados al azar. Se realizó fenotipificación de los cinco antígenos mayores del sistema Rh. y el antígeno K1 y K2 del sistema Kell. Se utilizó la técnica de hemaglutinación en tubo, con sueros monoespecíficos y DG Gel® Coombs. Se calculó la frecuencia fenotípica de los antígenos D, C, c, E y e del sistema Rh., y K1 y K2 del sistema Kell, en porcentajes. A partir de la frecuencia de los fenotipos Rh. se determinó la frecuencia del genotipo más probable de dicho sistema. Para el Kell se estimó el genotipo en base al fenotipo. Resultados: sistema Rh: 96 por ciento de las muestras estudiadas presentaba el antígeno D, 97,5 por ciento el antígeno e; 35,5 por ciento el antígeno E; 79 por ciento el antígeno C y 65,5 por ciento el antígeno c. El genotipo más frecuente fue CDe/CDe. Sistema Kell: se encontró una frecuencia del 4 por ciento para el antígeno K1, mientras que el antígeno K2 presenta una frecuencia del 99,5 por ciento. Al nivel de frecuencia genotípica se detectó que el 96 por ciento de la población tiene un genotipo homocigoto para K2 (kk). Conclusiones: La frecuencias de los siete antígenos estudiados es similar a la descrita en otras poblaciones(AU)
Introduction: Immunologic studies performed on blood donors are directed to provide a transfusion therapy compatible with ABO blood group system and Rh system D antigen in the recipient. However, as a way to increase transfusion safety, the interest of expanding the range of antigens to determine and therefore to be tested for compatibility prior to a blood transfusion, arises. Aim: To determine the frequency of the five major antigens of Rh. system and K1 and K2 antigens of the Kell system in blood donors. Methods: Cross-sectional study including 200 randomly selected voluntary blood donors from Centro Productivo Regional de Sangre del Maule (CPRSM). Phenotyping of five major antigens of Rh. system and K1 and K2 Kell system antigens was carried out. The tube hemagglutination technique with monospecific Coombs sera and DG Gel ® was used. The Rh. system D, C, c, E, e antigens and Kell system K1 and K2 antigen phenotypic frequencies were calculated in percentages. The most likely Rh.genotype was determined from the phenotype frequency of this system. Similarly, in Kell system the genotype frequency was determined based on phenotype. Results: In the Rh.system, 96 percent of the samples studied had D antigen; 97.5 percent had the e antigen, and 35.5 percent the E antigen. Antigen C was present in 79 percent and c in 65.5 percent. The most frequent Rh. genotype was CDe/CDe. In Kell system, K1 antigen presented a frequency of 4 percent, while antigen K2 presented a 99.5 percent. Regarding genotypic frequency, a 96 percent of the population showed a K2 (kk) homozygous genotype(AU) Conclusion: The frequency of the seven antigens studied is similar to that described in other populations(AU)
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Humanos , Masculino , Feminino , Doadores de Sangue , Antígenos de Grupos Sanguíneos , Sistema do Grupo Sanguíneo Rh-Hr/sangue , Variação Biológica da População , Transfusão de Sangue/métodos , Estudos Transversais , Epidemiologia Descritiva , Testes de Hemaglutinação/métodos , Sistema do Grupo Sanguíneo de KellRESUMO
BACKGROUND: Hepatocellular carcinoma is the most common cause of primary liver neoplasms and is one of the main causes of death in patients with liver cirrhosis. High Alpha fetoprotein serum levels have been found in 60-70% of patients with Hepatocellular carcinoma; nevertheless, there are other causes that increase this protein. Alpha fetoprotein levels > or =200 and 400 ng/mL in patients with an identifiable liver mass by imaging techniques are diagnostic of hepatocellular carcinoma with high specificity. METHODS: We analysed the sensitivity and specificity of the progressive increase of the levels of alpha fetoprotein for the detection of hepatocellular carcinoma in patients with liver cirrhosis. Seventy-four patients with cirrhosis without hepatocellular carcinoma and 193 with hepatic lesions diagnosed by biopsy and shown by image scans were included. Sensitivity and specificity of transversal determination of alpha fetoprotein > or = 200 and 400 ng/mL and monthly progressive elevation of alpha fetoprotein were analysed. Areas under the ROC curves were compared. Positive and negative predictive values adjusted to a 5 and 10% prevalence were calculated. RESULTS: For an elevation of alpha fetoprotein > or= 200 and 400 ng/mL the specificity is of 100% in both cases, with a sensitivity of 36.3 and 20.2%, respectively. For an alpha fetoprotein elevation rate > or =7 ng/mL/month, sensitivity was of 71.4% and specificity of 100%. The area under the ROC curve of the progressive elevation was significantly greater than that of the transversal determination of alpha fetoprotein. The positive and negative predictive values modified to a 10% prevalence are of: 98.8% and 96.92%, respectively; while for a prevalence of 5% they were of 97.4% and 98.52%, respectively. CONCLUSION: The progressive elevation of alpha fetoprotein > or =7 ng/mL/month in patients with liver cirrhosis is useful for the diagnosis of hepatocellular carcinoma in patients that do not reach alphaFP levels > or =200 ng/mL. Prospective studies are required to confirm this observation.
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Carcinoma Hepatocelular/diagnóstico , Cirrose Hepática/sangue , Neoplasias Hepáticas/diagnóstico , alfa-Fetoproteínas/análise , Carcinoma Hepatocelular/sangue , Feminino , Humanos , Neoplasias Hepáticas/sangue , Masculino , Pessoa de Meia-Idade , Sensibilidade e EspecificidadeRESUMO
Hepatocellular carcinoma is the fifth most common malignant neoplasm worldwide. Most patients are not candidates to surgical treatment. The prognosis of this neoplasm is poor, with an overall survival rate of 8 weeks in unresectable tumors. Estrogen receptors have been found in up to 33% of this tumors, reason why treatment with tamoxifen or progesterone compounds have been tried to diminish this neoplasm's progression but its use remains controversial. In our institution, thirteen patients were treated with tamoxifen (20- 40 mg/day) and 26 received supportive measures only. The clinical and tumoral characteristics were similar in both groups. Survival in the Tamoxifen group was of 5.5 +/- 1.7 months while in the supportive measures group was of 2.1 +/- 0.5 months (p = 0.018). Other factors related to an increased survival were: female gender and the Okuda score; age, TNM and alphaFP were not related to survival. The multivariate analysis showed that treatment with tamoxifen duplicates survival independently of the tumoral stage and functional hepatic reserve. It seems that the benefit of treatment with tamoxifen is limited and is not associated to the presence of estrogen receptors. In our study a 69 year-old man with diagnosis of non-resectable hepatocellular carcinoma and negative estrogen receptors, was treated with tamoxifen with a partial response and an overall survival of 4 years until November 2005. Despite some case reports that have shown tumoral regression, while other studies do not report any survival benefits. It is important to identify patients that would benefit from treatment with tamoxifen.