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1.
Rev Med Chil ; 151(1): 23-31, 2023 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37906743

RESUMO

BACKGROUND: The SARS-CoV-2 pandemic is associated with morbidity, hospitalizations, absenteeism, and mortality among healthcare workers (HCW). AIM: To evaluate the seroconversion rate in HCW exposed to SARS-CoV-2 in the early pandemic phase in 2020 at a regional reference hospital. MATERIAL AND METHODS: One hundred seventy-nine HCW working at a regional hospital were invited to a longitudinal study performed between April-July 2020. A serological analysis by ELISA IgG for viral nucleoprotein and protein S with a secondary analysis by ELISA IgG protein S1/S2 for samples with positive or doubtful result was carried out together with a complementary online survey to inquire about occupational or community exposures to SARS-CoV-2. RESULTS: Two cases with baseline infection were detected (1.1%, one symptomatic and one asymptomatic) and no cases of seroconversion were detected. During the study period, there were 136 patients hospitalized with COVID-19, and regional weekly COVID-19 incidence ranged from 2.7 to 24.4 per 100,000 inhabitants. No SARS-CoV-2 cases were detected by PCR among 27 HCW who consulted for respiratory symptoms in the period. Online surveys confirmed direct care of COVID-19 patients and also detected a high degree of unprotected social interaction at work. CONCLUSIONS: There was no evidence of seroconversion in this group of HCW exposed to the risk of infection by SARS-CoV-2 during the onset of the COVID-19 pandemic. Personal protective equipment and other measures used by the HCW were extremely useful for their protection in the initial phase of the pandemic.


Assuntos
COVID-19 , SARS-CoV-2 , Humanos , COVID-19/epidemiologia , Pandemias/prevenção & controle , Estudos Longitudinais , Soroconversão , Pessoal de Saúde , Imunoglobulina G
2.
Rev. méd. Chile ; 151(9)sept. 2023.
Artigo em Inglês | LILACS-Express | LILACS | ID: biblio-1565714

RESUMO

Background: Histopathological analysis of tissue samples is an ancillary complementary diagnostic tool in tuberculosis (TB) with variable sensitivity and specificity according to different clinical settings. We evaluated the spectrum of histological findings, their diagnostic sensitivity, diagnostic utility, and requests over time in a sample of archival biopsies. Methods: Analysis of biopsies of confirmed TB cases between years 2011-2019 at a reference hospital in Chile. Results: The series included patients with a histological study for TB confirmed by culture (88.9%) or PCR (11.1%). In total, 34 samples were available for analysis, most of them of extrapulmonary origin (82.4%). Biopsies were taken before the start of treatment in 26 cases (76.5%) or after the start-end of treatment for different reasons in 8 cases (23.5%). Restricting the analysis to the group with pretreatment biopsies, the prevalence/diagnostic sensitivity of granulomas was 93.3%, 69.2% for caseous necrosis, 26.9% for granulomas with caseous necrosis without acid-fast bacilli (AFB), and 46.2% for AFB in any histological context. A histological score was constructed to evaluate the homogeneity of lesions, observing that 76.9% had at least four of the six components of the score. The request for biopsies was maintained over time despite the increase in the use of molecular techniques. The presence of AFB contributed to the diagnosis before microbiological results in 23.1% of the cases. Conclusions: Histological study continues to contribute to the diagnosis of TB, especially in extrapulmonary forms.


El análisis histopatológico de muestras de tejidos es una metodología antigua y auxiliar para el diagnóstico de tuberculosis (TB) con sensibilidad y especificidad variable de acuerdo al escenario clínico. Evaluamos el espectro de los hallazgos histológicos, su sensibilidad diagnóstica, su utilidad diagnóstica y cambios de solicitud en el tiempo. Métodos: Análisis de biopsias de casos de TB confirmados entre los años 2011-2019 en un hospital de referencia en Chile. Resultados: La serie incluye pacientes con estudio histológico por TB confirmados por cultivo (88,9%) o PCR (11,1%). En total se contó con 34 muestras para análisis, en su mayoría de origen extrapulmonar (82,4%). Las biopsias fueron tomadas antes del inicio del tratamiento en 26 casos (76,5%) o luego del inicio o al finalizar el tratamiento por diferentes razones en 8 casos (23,5%). Restringiendo el análisis al grupo con biopsias pretratamiento, la prevalencia/sensibilidad diagnóstica de granulomas fue de 93,3%, de necrosis caseosa 69,2%, de granulomas con necrosis caseosa sin bacilos ácido-alcohol resistentes (BAAR) de 26,9% y de BAAR en cualquier contexto histológico de 46,2%. Se construyó un score histológico para ver homogeneidad de lesiones, observando que el 76,9% tenía al menos 4 de los 6 componentes del score. La solicitud de biopsias se mantuvo en el tiempo a pesar del incremento de técnicas moleculares. La presencia de BAAR contribuyó al diagnóstico antes que los resultados microbiológicos en el 23,1% de los casos. Conclusiones: El estudio histológico sigue contribuyendo al diagnóstico, especialmente en las formas extrapulmonares de TB.

3.
Rev. méd. Chile ; 151(6): 717-724, jun. 2023. tab
Artigo em Espanhol | LILACS | ID: biblio-1560231

RESUMO

INTRODUCCIÓN: COVID-19 cobró millones de vidas especialmente en la era pre-vacunas. Estudios preliminares mostraban eficacia promisoria del plasma de personas convalecientes anti SARS-CoV-2 (PPC). Objetivo: evaluar la eficacia del PPC en hospitalizados por COVID-19 de moderada gravedad. MATERIAL Y MÉTODOS: Estudio retrospectivo, bicéntrico, en adultos hospitalizados por COVID-19 moderado (no crítico) que requirieron oxigenoterapia. Al plasma donado por sobrevivientes de cuadros leves (600 cc) se les realizó búsqueda de IgG anti SARS-CoV-2. Se evaluó su impacto en mortalidad, estadía hospitalaria (días) y necesidad de ventilación mecánica (VMI). RESULTADOS: De los 119 pacientes incluidos, 58% eran hombres (edad mediana 60 años), 88% poseía comorbilidad y 43% tenía "CALL score" de alto riesgo. 43 pacientes (36%) recibieron PPC, sólo 15 (12,6%) precozmente (< 7 días). 22 pacientes debieron trasladarse a unidad intensiva, 18 recibieron VMI y 15 fallecieron (12,6%). El uso de PPC no se asoció a cambios en la mortalidad (p = 0,16), necesidad de VMI (p = 0,79) ni en la estadía hospitalaria (p = 0,24). Su administración en forma precoz (< 7 días de síntomas) tampoco demostró asociación significativa. La presencia de cardiopatía y el requerir posteriormente VMI fueron factores independientes asociados a mortalidad. CONCLUSIONES: El uso de PPC en pacientes hospitalizados por COVID-19 de moderada gravedad no se asoció a menor mortalidad, estadía hospitalaria ni necesidad de VMI.


INTRODUCTION: COVID-19 claimed millions of lives, mainly in the pre-vaccine era. Preliminary studies showed promising efficacy of convalescent plasma against SARS-CoV-2 (CP). Objective: To evaluate the efficacy of CP in patients hospitalized for COVID-19 with moderate severity. METHODS: Retrospective, bicentric study including adults hospitalized for moderate (non-critical) COVID-19 who required oxygen therapy. CP donated by survivors of mild cases (600 cc) were searched for IgG anti-SARS-CoV-2. Its impact on mortality, hospital stay (days), and need for mechanical ventilation (IMV) was evaluated. RESULTS: Of the 119 patients included, 58% were men (median age 60 years), 88% had comorbidity, and 43% had a high-risk CALL score. Forty-three patients (36%) received CP, only 15 (12.6%) early (< 7 days). Twenty-two patients had to be transferred to the intensive care unit; 18 received IMV, and 15 died (12.6%). The use of CP was not associated with changes in mortality (p = 0.16), need for IMV (p = 0.79), or hospital stay (p = 0.24). Its early administration (< 7 days of symptoms) did not show a significant association either. The presence of heart disease and subsequently requiring IMV were independent factors of mortality. CONCLUSIONS: The use of CP in patients hospitalized for moderately severe COVID-19 was not associated with lower mortality, hospital stay, or the need for IMV.


Assuntos
Humanos , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Idoso , Índice de Gravidade de Doença , Imunização Passiva , SARS-CoV-2 , COVID-19/mortalidade , COVID-19/terapia , Soroterapia para COVID-19 , Hospitalização/estatística & dados numéricos , Tempo de Internação/estatística & dados numéricos , Respiração Artificial/estatística & dados numéricos , Estudos Retrospectivos , Resultado do Tratamento
4.
Rev. méd. Chile ; 151(6): 742-752, jun. 2023. tab
Artigo em Inglês | LILACS | ID: biblio-1560234

RESUMO

OBJECTIVES: To characterize clinical aspects, evaluate the diagnostic opportunity, and identify factors associated with mortality in patients hospitalized for tuberculosis (TB). METHODS: Retrospective study of patients admitted for TB to a Regional Hospital in Chile between 2011 and 2019. RESULTS: 142 TB events required hospitalization in this period (38.2% of total cases). All risk groups were identified, with a significant increase in patients with diabetes mellitus. The pulmonary location was the most frequent (71.1%), followed by disseminated forms (16.2%). The sensitivity of microscopy smear in cases of pulmonary TB (isolated or combined) was 78.8% and lower in cases of bronchoalveolar lavage (58.3%). PCR was only occasionally applied (< 10%) with a sensitivity of 100% in sputum samples. Its use increased progressively and reached a positivity of 33% (6 out of 18 cases) in cases with negative sputum staining. The median time between symptom onset and diagnosis was prolonged (9 weeks), and 32.5% of all regional events were diagnosed at the hospital. Dose adjustments (22.1%), corticosteroid use (25%), and treatment interruptions were frequent (11%). Lethality reached 19%, and by multivariate analysis, only shock was associated with a fatal outcome. CONCLUSIONS: In this case series, the diagnosis of TB cases was delayed, scarcely diagnosed by molecular methods, highly concentrated at the hospital level, required admission in a large percentage of cases, and had a high case-fatality rate.


OBJETIVOS: Caracterizar aspectos clínicos, evaluar la oportunidad diagnóstica e identificar factores asociados a mortalidad en pacientes ingresados por tuberculosis (TB). MÉTODOS: Estudio retrospectivo de pacientes ingresados por TB a un Hospital Regional en Chile entre el 2011 y 2019. RESULTADOS: Un total de 142 eventos de TB requirieron hospitalización en el período (38,2% del total). Todos los grupos de riesgo fueron identificados con un aumento significativo de los pacientes con diabetes mellitus. La localización pulmonar fue la más frecuente (71,1%), seguida de la forma diseminada (2 o más sitios; 16,2%). La sensibilidad de la tinción de expectoración en casos de TB pulmonar (aislada o combinada) fue de 78,8% y más baja en casos de lavado broncoalveolar (58,3%). La PCR fue sólo ocasionalmente aplicada (< 10%) con una sensibilidad del 100% en muestras de expectoración. Su uso aumentó progresivamente en el período y el incremento diagnóstico de TB en casos con tinción negativa de expectoración estudiados con PCR fue de 33% (6 de 18 casos). La mediana entre inicio de síntomas y el diagnóstico fue prolongada (9 semanas) y el 32,5% de los eventos regionales fueron diagnosticados en el hospital. Los ajustes de dosis (22,1%), uso de corticoides (25%) e interrupciones del tratamiento fueron hechos frecuentes (11%). La letalidad alcanzó 19% y en el análisis multivariado sólo la aparición de shock se asoció a un desenlace fatal. CONCLUSIONES: En esta serie de casos, el diagnóstico de casos de TB fue tardío, infrecuentemente diagnosticado por métodos moleculares, concentrado en la atención terciaria, requirió hospitalización en un gran porcentaje de casos y tuvo una elevada letalidad.


Assuntos
Humanos , Masculino , Feminino , Adolescente , Adulto , Pessoa de Meia-Idade , Idoso , Adulto Jovem , Tuberculose Pulmonar/diagnóstico , Tuberculose Pulmonar/mortalidade , Tuberculose Pulmonar/epidemiologia , Escarro/microbiologia , Tuberculose/diagnóstico , Tuberculose/mortalidade , Tuberculose/epidemiologia , Chile/epidemiologia , Estudos Retrospectivos , Fatores de Risco , Hospitalização/estatística & dados numéricos
5.
PLoS One ; 18(2): e0270388, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36745590

RESUMO

The main objective of this study was to estimate the performance, under local epidemiological conditions, of two in-house ELISA assays for the combined detection of anti-SARS-CoV-2 IgA, IgM, and IgG immunoglobulins. A total of 94 serum samples were used for the assessment, where 44 corresponded to sera collected before the pandemic (free of SARS-CoV-2 antibodies), and 50 sera were collected from confirmed COVID-19 patients admitted to the main public hospital in the city of Valdivia, southern Chile. The Nucleocapsid (Np) and the receptor-binding domain (RBD) proteins were separately used as antigens (Np and RBD ELISA, respectively) to assess their diagnostic performance. A receiver operating characteristic (ROC) analysis was performed to estimate the optical density (OD) cut-off that maximized the sensitivity (Se) and specificity (Sp) of the ELISA assays. Np ELISA had a mean Se of 94% (95% CI = 83.5-98.8%) and a mean Sp of 100% (95% CI = 92.0-100%), with an OD 450 nm positive cut-off value of 0.88. On the other hand, RBD ELISA presented a mean Se of 96% (95% CI = 86.3-99.5%) and a mean Sp of 90% (95% CI = 78.3-97.5%), with an OD 450 nm positive cut off value of 0.996. Non-significant differences were observed between the Se distributions of Np and RBD ELISAs, but the latter presented a significant lower Sp than Np ELISA. In parallel, collected sera were also analyzed using a commercial lateral flow chromatographic immunoassay (LFCI), to compare the performance of the in-house ELISA assays against a commercial test. The LFCI had a mean sensitivity of 94% (95% CI = 87.4-100%) and a mean specificity of 100% (95% CI = 100-100%). When compared to Np ELISA, non-significant differences were observed on the performance distributions. Conversely, RBD ELISA had a significant lower Sp than the LFCI. Although, Np ELISA presented a similar performance to the commercial test, this was 2.5 times cheaper than the LFCI assay (labor cost not considered). Thus, the in-house Np ELISA could be a suitable alternative tool, in resource limited environments, for the surveillance of SARS-CoV-2 infection, supporting further epidemiological studies.


Assuntos
COVID-19 , Humanos , COVID-19/diagnóstico , COVID-19/epidemiologia , SARS-CoV-2 , Imunoglobulina A , Ensaio de Imunoadsorção Enzimática/métodos , Imunoglobulina G , Sensibilidade e Especificidade , Imunoglobulina M , Anticorpos Antivirais
6.
Rev. méd. Chile ; 151(1): 23-31, feb. 2023. ilus, tab
Artigo em Inglês | LILACS | ID: biblio-1515415

RESUMO

BACKGROUND: The SARS-CoV-2 pandemic is associated with morbidity, hospitalizations, absenteeism, and mortality among healthcare workers (HCW). AIM: To evaluate the seroconversion rate in HCW exposed to SARS-CoV-2 in the early pandemic phase in 2020 at a regional reference hospital. MATERIAL AND METHODS: One hundred seventy-nine HCW working at a regional hospital were invited to a longitudinal study performed between April-July 2020. A serological analysis by ELISA IgG for viral nucleoprotein and protein S with a secondary analysis by ELISA IgG protein S1/S2 for samples with positive or doubtful result was carried out together with a complementary online survey to inquire about occupational or community exposures to SARS-CoV-2. RESULTS: Two cases with baseline infection were detected (1.1%, one symptomatic and one asymptomatic) and no cases of seroconversion were detected. During the study period, there were 136 patients hospitalized with COVID-19, and regional weekly COVID-19 incidence ranged from 2.7 to 24.4 per 100,000 inhabitants. No SARS-CoV-2 cases were detected by PCR among 27 HCW who consulted for respiratory symptoms in the period. Online surveys confirmed direct care of COVID-19 patients and also detected a high degree of unprotected social interaction at work. CONCLUSIONS: There was no evidence of seroconversion in this group of HCW exposed to the risk of infection by SARS-CoV-2 during the onset of the COVID-19 pandemic. Personal protective equipment and other measures used by the HCW were extremely useful for their protection in the initial phase of the pandemic.


ANTECEDENTES: La pandemia de SARS-CoV-2 está asociada a morbilidad, hospitalizaciones, ausentismo y mortalidad entre el personal de salud (PS). OBJETIVO: Evaluar la tasa de seroconversión en el PS expuesto al SARS-CoV-2 en la fase pandémica inicial el 2020 en un hospital regional de referencia. MATERIAL Y MÉTODOS: Ciento setenta y nueve trabajadores de la salud fueron invitados a un estudio longitudinal realizado entre abril-julio de 2020. Se efectuó un análisis serológico por ELISA IgG para nucleoproteína viral y proteína S con un análisis secundario por ELISA IgG proteína S1 / S2 para muestras con resultado positivo o dudoso junto a encuestas complementarias en línea para preguntar sobre exposiciones ocupacionales o comunitarias al SARS-CoV-2. RESULTADOS: Se detectaron dos casos con infección basal (1,1%, uno sintomático y uno asintomático) sin casos de seroconversión. Durante el período de estudio, hubo 136 pacientes hospitalizados con COVID-19, y la incidencia semanal regional de COVID-19 osciló entre 2,7 y 24,4 por 100.000 habitantes. No se detectaron casos de SARS-CoV-2 por PCR entre los 27 funcionarios que consultaron por síntomas respiratorios en este período. Las encuestas en línea confirmaron la atención directa de los pacientes con COVID-19 y también detectaron un alto grado de interacción social desprotegida en el trabajo. CONCLUSIONES: No hubo evidencia de seroconversión en un grupo de funcionarios expuestos al riesgo de infección por SARS-CoV-2 durante el inicio de la pandemia de COVID-19. Los equipos de protección personal y otras medidas utilizadas por el PS fueron de suma utilidad para su protección en la fase inicial de la pandemia.


Assuntos
Humanos , SARS-CoV-2 , COVID-19/epidemiologia , Imunoglobulina G , Estudos Longitudinais , Pessoal de Saúde , Pandemias/prevenção & controle , Soroconversão
7.
Rev Med Chil ; 151(9): 1177-1184, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-39093154

RESUMO

BACKGROUND: Histopathological analysis of tissue samples is an ancillary complementary diagnostic tool in tuberculosis (TB) with variable sensitivity and specificity according to different clinical settings. We evaluated the spectrum of histological findings, their diagnostic sensitivity, diagnostic utility, and requests over time in a sample of archival biopsies. METHODS: Analysis of biopsies of confirmed TB cases between years 2011-2019 at a reference hospital in Chile. RESULTS: The series included patients with a histological study for TB confirmed by culture (88.9%) or PCR (11.1%). In total, 34 samples were available for analysis, most of them of extrapulmonary origin (82.4%). Biopsies were taken before the start of treatment in 26 cases (76.5%) or after the start-end of treatment for different reasons in 8 cases (23.5%). Restricting the analysis to the group with pretreatment biopsies, the prevalence/diagnostic sensitivity of granulomas was 93.3%, 69.2% for caseous necrosis, 26.9% for granulomas with caseous necrosis without acid-fast bacilli (AFB), and 46.2% for AFB in any histological context. A histological score was constructed to evaluate the homogeneity of lesions, observing that 76.9% had at least four of the six components of the score. The request for biopsies was maintained over time despite the increase in the use of molecular techniques. The presence of AFB contributed to the diagnosis before microbiological results in 23.1% of the cases. CONCLUSIONS: Histological study continues to contribute to the diagnosis of TB, especially in extrapulmonary forms.


Assuntos
Sensibilidade e Especificidade , Tuberculose , Humanos , Biópsia/métodos , Feminino , Masculino , Adulto , Pessoa de Meia-Idade , Tuberculose/diagnóstico , Tuberculose/patologia , Tuberculose/microbiologia , Chile , Mycobacterium tuberculosis/isolamento & purificação , Mycobacterium tuberculosis/genética , Idoso , Adulto Jovem , Estudos Retrospectivos , Adolescente , Granuloma/patologia , Granuloma/microbiologia , Granuloma/diagnóstico
8.
Rev Med Chil ; 151(6): 717-724, 2023 Jun.
Artigo em Espanhol | MEDLINE | ID: mdl-38801380

RESUMO

INTRODUCTION: COVID-19 claimed millions of lives, mainly in the pre-vaccine era. Preliminary studies showed promising efficacy of convalescent plasma against SARS-CoV-2 (CP). OBJECTIVE: To evaluate the efficacy of CP in patients hospitalized for COVID-19 with moderate severity. METHODS: Retrospective, bicentric study including adults hospitalized for moderate (non-critical) COVID-19 who required oxygen therapy. CP donated by survivors of mild cases (600 cc) were searched for IgG anti-SARS-CoV-2. Its impact on mortality, hospital stay (days), and need for mechanical ventilation (IMV) was evaluated. RESULTS: Of the 119 patients included, 58% were men (median age 60 years), 88% had comorbidity, and 43% had a high-risk CALL score. Forty-three patients (36%) received CP, only 15 (12.6%) early (< 7 days). Twenty-two patients had to be transferred to the intensive care unit; 18 received IMV, and 15 died (12.6%). The use of CP was not associated with changes in mortality (p = 0.16), need for IMV (p = 0.79), or hospital stay (p = 0.24). Its early administration (< 7 days of symptoms) did not show a significant association either. The presence of heart disease and subsequently requiring IMV were independent factors of mortality. CONCLUSIONS: The use of CP in patients hospitalized for moderately severe COVID-19 was not associated with lower mortality, hospital stay, or the need for IMV.


Assuntos
Soroterapia para COVID-19 , COVID-19 , Hospitalização , Imunização Passiva , Tempo de Internação , SARS-CoV-2 , Índice de Gravidade de Doença , Humanos , COVID-19/terapia , COVID-19/mortalidade , Masculino , Estudos Retrospectivos , Pessoa de Meia-Idade , Feminino , Idoso , Hospitalização/estatística & dados numéricos , Tempo de Internação/estatística & dados numéricos , Resultado do Tratamento , Adulto , Respiração Artificial/estatística & dados numéricos
9.
Rev Med Chil ; 151(6): 742-752, 2023 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38801383

RESUMO

OBJECTIVES: To characterize clinical aspects, evaluate the diagnostic opportunity, and identify factors associated with mortality in patients hospitalized for tuberculosis (TB). METHODS: Retrospective study of patients admitted for TB to a Regional Hospital in Chile between 2011 and 2019. RESULTS: 142 TB events required hospitalization in this period (38.2% of total cases). All risk groups were identified, with a significant increase in patients with diabetes mellitus. The pulmonary location was the most frequent (71.1%), followed by disseminated forms (16.2%). The sensitivity of microscopy smear in cases of pulmonary TB (isolated or combined) was 78.8% and lower in cases of bronchoalveolar lavage (58.3%). PCR was only occasionally applied (< 10%) with a sensitivity of 100% in sputum samples. Its use increased progressively and reached a positivity of 33% (6 out of 18 cases) in cases with negative sputum staining. The median time between symptom onset and diagnosis was prolonged (9 weeks), and 32.5% of all regional events were diagnosed at the hospital. Dose adjustments (22.1%), corticosteroid use (25%), and treatment interruptions were frequent (11%). Lethality reached 19%, and by multivariate analysis, only shock was associated with a fatal outcome. CONCLUSIONS: In this case series, the diagnosis of TB cases was delayed, scarcely diagnosed by molecular methods, highly concentrated at the hospital level, required admission in a large percentage of cases, and had a high case-fatality rate.


Assuntos
Tuberculose Pulmonar , Humanos , Estudos Retrospectivos , Masculino , Feminino , Pessoa de Meia-Idade , Chile/epidemiologia , Adulto , Fatores de Risco , Idoso , Tuberculose Pulmonar/epidemiologia , Tuberculose Pulmonar/diagnóstico , Tuberculose Pulmonar/mortalidade , Adulto Jovem , Hospitalização/estatística & dados numéricos , Tuberculose/diagnóstico , Tuberculose/epidemiologia , Tuberculose/mortalidade , Adolescente , Escarro/microbiologia
10.
Rev. med. Chile ; 150(7): 849-854, jul. 2022. tab, graf
Artigo em Espanhol | LILACS | ID: biblio-1424146

RESUMO

BACKGROUND: Philadelphia negative myeloproliferative neoplasms (Ph-MPN) are clonal disorders whose pathogenesis has been elucidated in recent years, creating diagnostic and prognostic algorithms. AIM: To study JAK2, CALR y MPL gene mutations in patients with Ph-MPN. MATERIALS AND METHODS: Descriptive cross-sectional observational study of patients with MPN (2015-2019), reviewing clinical, demographic and laboratory data. JAK2, CALR and MPL gene mutations were analyzed by RT-PCR. Results: We studied 72 patients. Fifty percent had essential thrombocythemia (ET), 26.4% had polycythemia vera (PV) and 23.6% had primary myelofibrosis (PM). Bone marrow biopsy was available in 76.5%. At diagnosis, the mean age was 65.5 years and 61% were symptomatic. A thrombotic event was the most frequent problem in 20% and 25% had splenomegaly. There were statistically significant differences in hematological parameters between the different MPNs. JAK2 V617F mutation was detected in 61.1%. Only 19 JAK2 V617F negative patients were available for CALR and MPL mutation studies, identifying 10 triple negative cases. Kaplan Meier curves showed a median survival of 88 months, being similar in the three MPNs. Causes of death in 20 patients were thrombotic complications in 30%, disease progression in 25%, infection in 20%, other neoplasms in 15% and other causes in 10%. CONCLUSIONS: The presentation and frequency of JAK2 V617F, CALR and MPL mutations in our cohort was similar to those reported in other studies for ET and PM. JAK2 V617F mutation was lower for PV. No significant differences between the three MPNs were observed for overall survival. We could not assess the prognostic value of the mutations.


Assuntos
Humanos , Idoso de 80 Anos ou mais , Policitemia Vera/genética , Trombocitemia Essencial/diagnóstico , Trombocitemia Essencial/genética , Transtornos Mieloproliferativos/genética , Chile , Estudos Transversais , Hospitais Públicos , Mutação
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