El puntaje de Framingham ayudaría en la estratificación del riesgo de pacientes con ergometría positiva y SPECT normal / The Framingham score could help in risk stratification of patients with positive ergometry and normal SPECT

Antecedentes. El valor pronóstico de una ergometría positiva en el contexto de imágenes tomográficas de perfusión miocárdica de estrés y reposo (SPECT) normales no está bien establecido. Objetivos. Documentar la incidencia de infarto, muerte y revascularización coronaria en pacientes con una ergometría positiva de riesgo intermedio e imágenes de perfusión SPECT normales, y explorar el potencial valor del puntaje de riesgo de Framingham en la estratificación pronóstica de estos pacientes. Métodos. Cohorte retrospectiva integrada por pacientes que habían presentado síntomas o hallazgos electrocardiográficos compatibles con enfermedad arterial coronaria durante la prueba de esfuerzo, con criterios de riesgo intermedio en la puntuación de Duke y perfusión miocárdica SPECT normal. Fueron identificados a partir de la base de datos del laboratorio de cardiología nuclear del Instituto de Cardiología y Cirugía Cardiovascular de la ciudad de Posadas, Argentina. Resultados. Fueron elegibles 217 pacientes. El seguimiento fue de 3 1,5 años. La sobrevida libre de eventos (muerte,infarto de miocardio no fatal, angioplastia coronaria o cirugía de bypass de arteria coronaria) a uno, tres y cinco años fue significativamente menor (Log-rank test, p= 0,001) en el grupo con puntaje de Framingham alto o muy alto (77, 71y 59 %, respectivamente) que en el grupo de puntaje bajo o intermedio (89, 87 y 83 %). Tomando como referencia a los pacientes con riesgo bajo en el puntaje de Framingham, luego de ajustar por edad, sexo y puntaje de Duke, los pacientes categorizados en los estratos alto y muy alto riesgo del puntaje de Framingham presentaron una incidencia del evento combinado cercana al triple (hazard ratio [HR] 2,81; intervalo de confianza [IC] del 95 % 0,91 a 8,72; p= 0,07 y HR 3,61;IC 95 % 1,23 a 10,56; p= 0,019 respectivamente). Conclusiones. La estimación de riesgo con el puntaje de Framingham sería de ayuda en la estratificación pronóstica de los pacientes con ergometría positiva y SPECT normal. (AU)

Background. The prognostic value of positive exercise testing with normal SPECT myocardial perfusion imaging is not well established. Objectives. To document the incidence of infarction, death, and coronary revascularization in patients with a positive intermediate-risk exercise test and normal SPECT perfusion images and to explore the potential value of the Framingham Risk Score in the prognostic stratification of these patients. Methods. A retrospective cohort comprised patients who presented symptoms or electrocardiographic findings compatible with coronary artery disease during the stress test, with intermediate risk criteria in the Duke score and normal SPECT myocardial perfusion. They were identified from the database of the nuclear cardiology laboratory of the Instituto de Cardiología y Cirugía Cardiovascular of Posadas, Argentina. Results. 217 patients were eligible. Follow-up was 3 1.5 years. Event-free survival (death, non-fatal myocardial infarction, coronary angioplasty, or coronary artery bypass surgery) at one, three, and five years was significantly lower (Log-ranktest, p: 0.001) in the group with a score of Framingham high or very high (77, 71 and 59 %, respectively) than in the lowor intermediate score group (89, 87 and 83 %). Taking as reference the low-risk patients in the Framingham score, after adjusting for age, sex, and Duke score, the patients categorized in the high-risk and very high-risk strata showed about three times higher incidence of the combined event (hazard ratio [HR] 2.81; 95 % confidence interval [CI] 0.91 to 8.72;p=0.07 and HR 3.61; 95 % CI 1.23 to 10.56; p=0.019 respectively). Conclusions. Risk estimation with the Framingham score would be helpful in the prognostic stratification of patients with positive exercise testing and normal SPECT. (AU)

El dilema clínico frente a los pacientes con ergometría positiva y prueba de perfusión miocárdica con SPECT normal / The clinical dilemma facing patients with positive stress test and normal SPECT myocardial perfusion imaging

La evaluación de la perfusión miocárdica con SPECT combina una prueba de esfuerzo (ergometría o estrés farmacológico) junto a imágenes de perfusión con radioisótopos. Este estudio es útil para establecer el diagnóstico de enfermedad arterial coronaria, estratificar el riesgo de infarto y tomar decisiones terapéuticas. Un resultado normal aporta un alto valor predictivo negativo, es decir, una muy baja probabilidad de que el paciente presente eventos cardiovasculares. El hallazgo de signos de isquemia en la ergometría podría poner en jaque el valor predictivo negativo de una perfusión normal. En presencia de este resultado, el paso siguiente es evaluar los predictores de riesgo en la ergometría, el riesgo propio del paciente en función de los antecedentes clínicos y el puntaje cálcico coronario, cuando este se encuentra disponible. Ante la presencia concomitante de otros marcadores de riesgo se sugiere completar la evaluación con un estudio anatómico.El uso de nuevas tecnologías podría mejorar la precisión en la predicción de eventos. (AU)

Assessment of myocardial perfusion with SPECT combines a stress test (ergometry or pharmacological stress) with radioisotope perfusion imaging. This test is helpful to diagnose coronary artery disease, stratify the risk of heart attack, and make therapeutic decisions. A normal result provides a high negative predictive value; therefore, the probability of cardiovascular events is very low. Signs of ischemia on an ergometry could jeopardize the negative predictive value of normal perfusion. In this clinical setting, the next step is to evaluate the risk predictors in the stress test, the individual risk based on the clinical history, and the coronary calcium score when available. Given the simultaneous presence of other risk markers,completing the evaluation with an anatomical study is suggested. The use of new technologies could improve the accuracy of event prediction. (AU)

Evaluation of the sensitivity and specificity of rapid human immunodeficiency virus (HIV)1 and 2 test kits commonly used in Nigeria

The sensitivity and specificity of five rapid HIV antibody test kits commonly used in Nigeria were evaluated. The kits were selected based on their high percentage frequency of use as compared to others. A total of 100 EIA HIV-1and RNA HIV-1 positive sera were used as positive gold standard; while 100 EIA HIV-1 and RNA HIV-1 negative sera were used as negative gold standard. The positive gold standard sera were pooled; serially diluted and analysed to determine the sensitivities of the kits. The methods used were strictly as provided by the manufacturers. Of the 100 positive gold standard serum samples used; Immunocomb-II gave false negative results with 10 (Sensitivity = 90); while HIV-SAV; Hexagon; Determine and SD-Bioline were false negative with 12 specimens; representing 88 sensitivity for each. On the other hand; of the 100 negative gold standard sera; Immunocomb-II gave 6 false positive results (Specificity = 94); HIV-SAV 12 (Specificity = 88); Hexagon 2 (Specificity = 98); Determine 12 (Specificity = 88); while SD-Bioline had no false positive result (specificity = 100). In analytical sensitivity; Immunocomb-II detected the highest serum titre of 30 000; making it the most sensitive. Two of the five test kits (Immunocomb and SD-Bioline) demonstrated excellent analytical sensitivity and specificity respectively. The two could be recommended for use as combination test algorithms instead of EIA/Western Blot algorithm; which is time-consuming; expensive and often not technically feasible in a developing country like ours. This study shows that not all the analytical performance indices cited in the literature from the manufacturers of diagnostic kits are necessarily reproducible in end-user laboratories

Effect of M-wave Amplitude on Inter-evaluator Concordance and Number of Detected Innervation Zones in the Medial Gastrocnemius Using Multichannel Electromyography / Efecto de la Amplitud de la Onda M sobre la Concordancia entre Evaluadores y el Número de Zonas de Inervación Detectadas en el Gastrocnemio Medial Mediante Electromiografía Multicanal

SUMMARY: The Innervation Zones (IZ) correspond to clusters of neuromuscular junctions. The traditional method of locating IZs through voluntary muscle contractions may not be feasible in individuals with motor disorders. Imposed contractions by electrostimulation are an alternative. However, there is limited evidence regarding the factors that affect inter-evaluator concordance and the number of localized IZs when using imposed contraction. The main objective of this research was to determine the effect of the amplitude of compound motor action potentials (CMAPs) containing the M-wave on inter-evaluator agreement. As a secondary objective, was investigate the effect on the number of detected IZs. Twenty-four healthy volunteers (age: 21.2 ± 1.5years, weight: 67.4 ± 13.2kg, height: 1.68 ± 0.80m) participated in the study. Electrostimulation was applied to the tibial nerve to induce contraction of the medial gastrocnemius. The IZ were identified based on the M-wave recorded through multichannel electromyography. A receiver operating characteristic (ROC) analysis was conducted to assess sensitivity and specificity in detecting the IZs. Inter-rater agreement was evaluated using a two-way mixed effects test to determine the intraclass correlation coefficients (ICC). A p-value less than 0.05 was considered statistically significant. The ROC analysis revealed that for both evaluators, a specificity of 95% was achieved with an amplitude ≥30 %. The area under the ROC curve was 0.980 [0.964, 0.996], indicating a strong influence of CMAP amplitude on detection of IZs. The highest level of agreement (ICC = 0.788 [0.713, 0.844]) among the evaluators was observed with CMAP amplitudes equal to or greater than 80 % of the maximum M-wave. The findings of this study demonstrate that both the number and the inter-evaluator concordance for detecting IZs using imposed contractions are strongly influenced by the amplitude of the M-wave. Higher M-wave amplitudes were associated with improved concordance and increased IZ detection, making it crucial to standardize amplitude settings for reliable outcomes.

Las Zonas de Inervación (IZ) corresponden a grupos de uniones neuromusculares. El método tradicional para localizar IZs mediante contracciones musculares voluntarias puede no ser factible en personas con trastornos motores. Las contracciones impuestas mediante electro estimulación son una alternativa. Sin embargo, existe poca evidencia sobre los factores que afectan la concordancia entre evaluadores y el número de IZs localizadas al usar este tipo de contracciones. El objetivo de esta investigación fue determinar el efecto de la amplitud de los potenciales de acción motores compuestos (PAMCs) que contienen la onda M sobre la concordancia entre evaluadores. Como objetivo secundario, se investigó el efecto sobre el número de IZs detectadas. Veinticuatro voluntarios sanos (edad: 21.2 ± 1.5 años, peso: 67.4 ± 13.2 kg, altura: 1.68 ± 0.80 m) participaron en el estudio. Se aplicó electroestimulación al nervio tibial para inducir la contracción del gastrocnemio medial. Las IZs se identificaron según la onda M registrada mediante electromiografía multicanal. Se realizó un análisis de curva de las característica del receptor (ROC) para evaluar la sensibilidad y especificidad en la detección de las IZs. La concordancia entre evaluadores se evaluó utilizando una prueba de efectos mixtos de dos vías para determinar los coeficientes de correlación intraclase (ICC). Se consideró un valor de p menor que 0.05 como estadísticamente significativo. El análisis ROC reveló que para ambos evaluadores se logró una especificidad del 95% con una amplitud ≥30 %. El área bajo la curva ROC fue de 0.980 [0.964, 0.996], lo que indica una fuerte influencia de la amplitud del CMAP en la detección de las IZs. El nivel más alto de concordancia (ICC = 0.788 [0.713, 0.844]) entre los evaluadores se observó con amplitudes de CMAP iguales o mayores al 80 % de la onda M máxima. Los hallazgos de este estudio demuestran que tanto el número como la concordancia entre evaluadores para detectar IZs mediante contracciones impuestas están fuertemente influenciados por la amplitud de la onda M. Las amplitudes más altas de la onda M se asociaron con una concordancia mejorada y un aumento en la detección de IZs, lo que hace crucial estandarizar los ajustes de amplitud para obtener resultados confiables.

The Anterior Pelvic Index (API) in the Classification of the Female Pelvis and Prediction of Fetopelvic Disproportion / El Índice Pelviano Anterior (API) en la Clasificación de la Pelvis Femenina y Predicción de la Desproporción Fetopélvica

SUMMARY: Measurements of the upper strait of the pelvis can be calculated using the Anterior Pelvic Index. The objective of the study was to determine the external validity and cut-off point of the API, to classify narrow pelvises from normal ones. We selected 214 women from 15 to 55 years old, 171 had vaginal delivery and 43 by caesarean section by feto-pelvic disproportion (FPD) of maternal origin, in whom the API was calculated, of which its mean difference was established with an alpha error of <0.05. Maximum values of sensitivity and specificity, ROC curve and Youden index were determined. The student's t gave a p-value =0.000 of the mean difference between the women who had vaginal delivery and those who had cesarean section by FPD of maternal origin; the value of the area under the ROC curve was 0.758 (CI 95% 0.695 - 0.814) with a p-value=0.0001. Maximum sensitivity was 74.42 % (CI 95%: 58.8 % to 86.5 %) and maximum specificity was 73.10 % (CI 95%: 65.8 % to 79.6 %), produced a Youden index of 0.475 (CI 95% 0.283 - 0.590) which is associated with the 15.44 (CI 95% 14.19 - 15.83) of the API scale. The API is a good tool for predicting women with suspected narrow pelvis and allows its classification into three types of pelvises: an API value of more than 15.83 would indicate pelvis suitable for vaginal delivery; an API value between 14.19 and 15.83 would be suspected of pelvic narrowness; an API value less than 14.19 would confirm a narrow pelvis.

Las medidas del estrecho superior de la pelvis pueden calcularse mediante el Índice Pelviano Anterior. El objetivo del estudio fue determinar la validez externa y el punto de corte del API, para clasificar pelvis estrechas de las normales. Seleccionamos 214 mujeres de 15 a 55 años, 171 tuvieron parto vaginal y 43 mediante cesárea por DFP de origen materno, en quienes se calculó el API, del cual se estableció su diferencia de medias con un error alfa de <0,05. Se determinaron valores máximos de sensibilidad y especificidad, curva ROC e índice de Youden. La t de Student dio un p-valor=0,000 de la diferencia de medias entre las mujeres de tuvieron parto vaginal y las que fueron sometidas a cesárea por DFP de origen materno; el valor del área bajo la curva ROC fue 0,758 (IC 95% 0,695 - 0,814) con un p- valor=0,0001. La máxima sensibilidad (74,42 %. IC 95%: 58,8 % a 86,5 %) y máxima especificidad (73,10 %. IC 95%: 65,8 % a 79,6 %), produjeron un índice de Youden de 0,475 (IC 95% 0,283 - 0,590) el cual está asociado al valor 15,44 (IC 95% 14,19 - 15,83) de la escala del API. El API es una buena herramienta de predicción de mujeres con sospecha de pelvis estrecha y permite su clasificación en tres tipos de pelvis: un valor de API de mas de 15,83 indicaría pelvis aptas para un parto vaginal; un valor de API entre 14,19 y 15,83 se sospecharía de estrechez pélvica; un valor de API menor a 14,19 confirmaría una pelvis estrecha.

Estudio comparativo entre un test de antígeno y la prueba de la reacción en cadena de la polimerasa en tiempo real (RT-PCR) para el diagnóstico de infección por COVID-19 en pediatría / Comparative study between an antigen test and the reverse transcription-polymerase chain reaction (RT-PCR) test for the diagnosis of COVID-19 in pediatrics

Introducción. La pandemia por COVID-19 ha puesto de manifiesto la necesidad de pruebas diagnósticas rápidas. La prueba de referencia es la reacción en cadena de la polimerasa en tiempo real (RT-PCR). Requiere un equipo y personal capacitado, y su resultado puede llevar un tiempo de espera prolongado. El sistema BD Veritor® es el método rápido cromatográfico utilizado para la detección del antígeno del coronavirus de tipo 2 del síndrome respiratorio agudo grave, en individuos sintomáticos. El objetivo primario del siguiente trabajo es evaluar sensibilidad y especificidad del test de antígeno (TA) comparadas con la RT-PCR en población pediátrica. Población y métodos. Estudio prospectivo, de prueba diagnóstica. Se incluyó a todo menor de 17 años en los primeros 5 días de inicio de síntomas, que consultó desde julio de 2021 hasta febrero de 2022. Se calculó un mínimo de 300 muestras para lograr una precisión de ± 8,76 % y de ± 3,68 % para sensibilidad y especificidad respectivamente. Se analizaron en paralelo las muestras por ambas metodologías. Resultados. De 316 muestras pareadas, 33 fueron positivas por ambos métodos; 6 fueron positivas solo por RT-PCR. La especificidad del TA fue del 100 %; la sensibilidad, del 84,6 %, con un valor predictivo positivo y negativo del 100 % y del 98 % respectivamente. Conclusiones. El TA demostró ser útil en el diagnóstico de pacientes pediátricos con COVID-19 en los primeros 5 días de inicio de síntomas, aunque aquellos con TA negativo y alta sospecha clínica deberían confirmar su resultado con la RT-PCR.

Introduction. The COVID-19 pandemic has brought to light the need for rapid diagnostic tests. The gold standard test is reverse transcription-polymerase chain reaction (RT-PCR). RT-PCR requires equipment and trained personnel, and results may take a long waiting time. The BD Veritor® System is a rapid chromatographic method used for the detection of severe acute respiratory syndrome coronavirus 2 antigen in symptomatic individuals. The primary objective of this study is to assess the sensitivity and specificity of the antigen test (AT) compared to the RT-PCR in the pediatric population. Population and methods. Prospective study with a diagnostic test. All children younger than 17 years in the first 5 days of symptom onset, who consulted between July 2021 and February 2022, were included. A minimum of 300 specimens was estimated to achieve an accuracy of ±8.76% and ±3.68% for sensitivity and specificity, respectively. Specimens were analyzed in parallel using both methodologies. Results. Of 316 paired samples, 33 were positive by both methods; 6 were positive only by RT-PCR. The specificity of the AT was 100%; sensitivity was 84.6%, with a positive and negative predictive value of 100% and 98%, respectively. Conclusions. The AT proved to be useful in the diagnosis of pediatric patients with COVID-19 in the first 5 days of symptom onset, although those with a negative AT and high clinical suspicion should confirm their result with a RT-PCR.

Validación de técnica de ganglio centinela en cáncer de endometrio en el Hospital de Talca / Validation of sentinel lymph node technique in endometrial cancer at the Hospital de Talca

Objetivo: Validar la técnica de ganglio centinela utilizando verde de indocianina en la estadificación del cáncer de endometrio. Método: Realizamos un estudio prospectivo entre enero y diciembre de 2021. Se incluyeron todas las pacientes portadoras de cáncer de endometrio clínicamente en etapa 1, de todos los grados de diferenciación e histologías. Todas las pacientes fueron sometidas a una estadificación laparoscópica. Se inició el procedimiento con identificación de ganglio centinela utilizando verde de indocianina. Posteriormente, se completó la cirugía de estadiaje estándar en todas las pacientes. Los ganglios centinelas fueron procesados con técnica de ultraestadiaje. Resultados: Se incluyeron 33 pacientes. El 81% presentaron histología endometrioide. El 100% fueron sometida además a una linfadenectomía pelviana estándar y el 20% a una linfadenectomía paraaórtica simultáneamente. Se detectó al menos un ganglio centinela en el 100% de los casos. La detección bilateral ocurrió en el 90,9%. La localización más frecuente fue la fosa obturatriz y la arteria hipogástrica. Obtuvimos una sensibilidad del 90% para detectar enfermedad ganglionar y un valor predictivo negativo del 95,8%. Conclusiones: La técnica de ganglio centinela utilizando verde de indocianina es replicable. Los resultados de nuestra serie nos permiten realizar procedimientos menos agresivos al estadificar el cáncer de endometrio.

Objective: To validate sentinel node mapping using indocyanine green in endometrial cancer staging. Method: A prospective study was conducted between January and December 2021. All patients with clinically stage 1 endometrial cancer, of all grades and histologies were included. All patients underwent laparoscopic staging. The procedure began with identification of the sentinel node using indocyanine green. Subsequently, standard staging surgery was completed in all patients. Sentinel nodes were processed using ultrastaging technique. Results: Thirty-three patients were enrolled. 81% of cases had endometrioid histology. All patients also underwent a standard pelvic lymphadenectomy and in 20% of cases a para-aortic lymphadenectomy. At least one sentinel node was detected in 100% of the cases. Bilateral detection occurred in 90.9%. The most frequent location was obturator fossa and hypogastric artery. Sensitivity to detect lymph node disease was 90% and negative predictive value 95.8%. Conclusions: Sentinel lymph node mapping using indocyanine green is a replicable technique. Our results allows us to perform less aggressive procedures in endometrial cancer staging.

Diseño y Validación de una Aplicación Móvil, para el Diagnóstico de Anemia en Pre-Escolares. Estudio de Precisión Diagnóstica / Design and Validation of a Mobile Application for the Diagnosis of Anemia in Preschoolers. Diagnostic Accuracy Study

La anemia afecta a miles de niños. Para el diagnóstico se cuantifica la hemoglobina (Hb); técnica que no se encuentra al alcance de toda la población. Contar con un instrumento validado de fácil aplicación, puede ayudar al diagnóstico. El objetivo de este estudio fue validar una aplicación móvil (APP) para diagnosticar anemia en niños de 2 a 5 años, aplicable por padres o tutores. Estudio de validación de escalas. Mediante búsqueda bibliografía se recopilaron ítems y dominios relacionados con anemia en niños. Una vez reducidos, se construyó un cuestionario para pilotaje, con tres hematólogos pediatras. El resultado de este fue posteriormente validado por 22 expertos mediante aplicación de escalas tipo Likert. Los ítems validados, se contrastaron con la Hb de niños de 267 niños de 2 a 5 años de los andes ecuatorianos (2.560 msnm). Se determinó asociación de los ítems con Hb y con los resultados obtenidos y se construyó la APP. 14 ítems fueron analizados. Todos ellos puntuaron sobre la mediana de la distribución (35,5 puntos) y fueron valorados por, al menos el 50 % de los expertos. Se seleccionaron palidez palmar, astenia y sueño en horas no habituales. Todos mostraron asociación significativa con anemia (p<0,05), y fueron aplicados como preguntas a padres o tutores y contrastados con el valor de Hb. Sensibilidad y especificidad para palidez fue: 85,1 % y 85,0 %; astenia: 72,3 % y 87,7 %; sueño en horas no habituales: 68,1 % y 87,7 %; palidez más astenia o sueño: 95,7 % y 74,6 %; y debilidad más sueño: 92,5 % y 76,8 %. Se desarrolló y validó una APP para diagnóstico de anemia en niños de 2 a 5 años aplicable por padres o tutores.

SUMMARY: Anemia affects thousands of children, and to reach a diagnosis, hemoglobin (Hb) is quantified. This technique however, is not always accessible to the general population. Therefore, the availability of a validated instrument can be useful in the diagnosis. The aim of this study was to validate a mobile application (APP), to diagnose anemia in children from 2 to 5 years old, applicable by parents or guardians. Scale validation study. Through a bibliographic search, items and domains related to anemia in children were collected. Once reduced, a pilot questionnaire was constructed with three pediatric hematologists. The result was later validated by 22 experts through the application of the Likert-type scales. The validated items were contrasted with the Hb of children of 267 children from 2 to 5 years of age from the Ecuadorian Andes (2,560 meters above sea level). The association of the items with Hb and with the results obtained was determined, and the APP was constructed. 14 items were analyzed. All of them scored above the median of the distribution (35.5 points) and were valued by at least 50 % of the experts. Palmar pallor, asthenia, and sleep at unusual hours were selected. All showed a significant association with anemia (p<0.05) and were applied as questions to parents or guardians and contrasted with the Hb value. Sensitivity and specificity for pallor was: 85.1 % and 85.0 %; asthenia: 72.3 % and 87.7 %; sleep at unusual hours: 68.1 % and 87.7 %; paleness plus fatigue or sleepiness: 95.7 % and 74.6 %; and weakness plus sleep: 92.5 % and 76.8 %. An APP for the diagnosis of anemia in children from 2 to 5 years old applicable by parents or guardians was developed and validated.

Genotipificación del gen RHD en ADN fetal libre en plasma de embarazadas RhD negativo / Genotyping of the RHD gene in free fetal DNA in plasma of RhD negative pregnant women

Objetivo: Determinar el grupo RhD fetal a través del estudio del gen RHD en ADN fetal que se encuentra libre en plasma de embarazadas RhD negativo. Método: Se analizó la presencia de los genes RHD, SRY y BGLO en ADNfl obtenido de plasma de 51 embarazadas RhD negativo no sensibilizadas, utilizando una qPCR. Los resultados del estudio genético del gen RHD se compararon con el estudio del grupo sanguíneo RhD realizado por método serológico en muestras de sangre de cordón, y los resultados del estudio del gen SRY fueron cotejados con el sexo fetal determinado por ecografía. Se calcularon la sensibilidad, la especificidad, los valores predictivos y la capacidad discriminativa del método estandarizado. Resultados: El gen RHD estaba presente en el 72,5% de las muestras y el gen SRY en el 55,5%, coincidiendo en un 100% con los resultados del grupo RhD detectado en sangre de cordón y con el sexo fetal confirmado por ecografía, respectivamente. Conclusiones: Fue posible deducir el grupo sanguíneo RhD del feto mediante el estudio del ADN fetal que se encuentra libre en el plasma de embarazadas con un método molecular no invasivo desarrollado y validado para este fin. Este test no invasivo puede ser utilizado para tomar la decisión de administrar inmunoglobulina anti-D solo a embarazadas RhD negativo que portan un feto RhD positivo.

Objective: To determine the fetal RhD group through the study of the RHD gene in fetal DNA found free in plasma of RhD negative pregnant women. Method: The presence of the RHD, SRY and BGLO genes in fetal DNA obtained from plasma of 51 non-sensitized RhD negative pregnant women was analyzed using qPCR. The results of the genetic study of the RHD gene were compared with the RhD blood group study performed by serological method in cord blood samples, and the results of the SRY gene study were compared with the fetal sex determined by ultrasound. Sensitivity, specificity, predictive values and discriminative capacity of the standardized method were calculated. Results: The RHD gene was present in 72.5% of the samples and the SRY gene in 55.5%, coinciding 100% with the results of the RhD group detected in cord blood, and with the fetal sex confirmed by ultrasound, respectively. Conclusions: It was possible to deduce the RhD blood group of the fetus through the study of fetal DNA found free in the plasma of pregnant women with a non-invasive molecular method developed and validated for this purpose. This non-invasive test can be used to make the decision to administer anti-D immunoglobulin only to RhD-negative pregnant women carrying an RhD-positive fetus.

Second to fourth digit ratio in women with breast cancer / Relación del segundo al cuarto dígito en mujeres con cáncer de mama

SUMMARY: Digit ratio established in utero is positivelly correlated with intrauterine level of estrogen. Since the breast cancer is related to excessive and prolonged exposure to estrogen, digit ratio might be considered as useful marker in breast cancer risk assessment. The aim of the present study was to compare digit ratios in breast cancer patients and healthy controls. The study group consisted of 98 breast cancer patients aged between 29 to 84 years while the control group included 141 healthy women aged between 21 and 67 years. After collecting anamnestic data concerning menopausal status, the length of second and fourth fingers were measured and the digit ratios were calculated for both hands, as well as the difference between right and left digit ratio. Digit ratio was significantly higher on right hand in breast cancer patients compaired to healthy controls (1.003±0.05 vs. 0.990±0.03). Right digit ratio showed better predictive capacity for the breast cancer development then the left (AUC:0.609 vs. 0.541). Negative statistically significant correlation between right digit ratio and the age of breast cancer diagnosis was observed (r=-0.271). Higher values of right digit ratio in women with breast cancer when compared to healthy women suggest their higher prenatal estrogen exposure that confirms the importance of digit ratio determination in breast cancer risk assessment.

La proporción de dígitos establecida en el útero, se correlaciona positivamente con el nivel intrauterino de estrógeno. Dado que el cáncer de mama está relacionado con una exposición excesiva y prolongada a los estrógenos, la proporción de dígitos podría considerarse un marcador útil en la evaluación del riesgo de cáncer de mama. El objetivo del presente estudio fue comparar proporciones de dígitos en pacientes con cáncer de mama y controles sanos. El grupo de estudio consistió en 98 pacientes con cáncer de mama con edades comprendidas entre los 29 y los 84 años, mientras que el grupo de control incluyó a 141 mujeres sanas con edades comprendidas entre los 21 y los 67 años. Después de recopilar datos anamnésticos sobre el estado menopáusico, se midió la longitud de los dedos segundo y anular y se calcularon las proporciones de los dedos para ambas manos, así como la diferencia entre la proporción de los dedos derecho e izquierdo. La proporción de dígitos fue significativamente mayor en la mano derecha en pacientes con cáncer de mama en comparación con controles sanos (1,003 ± 0,05 frente a 0,990 ± 0,03). La proporción del dígito derecho mostró una mejor capacidad predictiva para el desarrollo de cáncer de mama que el izquierdo (AUC: 0.609 vs. 0.541). Se observó una correlación estadísticamente significativa negativa entre la proporción de dígitos derechos y la edad del diagnóstico de cáncer de mama (r=-0,271). Los valores más altos de la proporción de dígitos derechos en mujeres con cáncer de mama en comparación con mujeres sanas sugieren una mayor exposición prenatal a estrógenos que confirma la importancia de la determinación de la proporción de dígitos en la evaluación del riesgo de cáncer de mama.

Diagnosis of fibromyalgia: diagnostic feasibility and accuracy of thermography

INTRODUCTION: Studies have suggested using thermography as a resource to diagnose fibromyalgia, although there has been no evidence confirming this hypothesis so far. OBJECTIVE: To evaluate the sensitivity and specificity of computerized infrared thermography as an auxiliary method for diagnosing fibromyalgia. METHODS: It is a diagnostic accuracy studywith cross-sectional design. One hundred and three individuals were evaluated for global pain using the Visual Analogue Scale. The measurement of pain at tender points was assessed by algometry, and skin temperature was assessed by thermography. To evaluate sensitivity and specificity, the analysis was performed using the Receiver Operating Characteristic Curve, measured by the area under the curve with their respective confidence intervals. RESULTS: Thermography has not been very sensitive or specific for pain (tender points) and diagnosis of fibromyalgia, according to the evaluation of the Receiver Operating Characteristic Curve, with an area under the curve equal to or lower than 0.75. CONCLUSION: In this study the thermography was not sensitive and specific as a tool for diagnosing the fibromyalgia syndrome. This study highlights important clinical implications concerning the current methods for diagnosing it, which, despite all efforts, are still subjective and poorly reproducible.

Accuracy of visual inspection, cytology and colposcopy in the diagnosis of high-grade cervical intraepithelial neoplasia / Acurácia da inspeção visual, citologia e colposcopia no diagnóstico da neoplasia intraepitelial cervical de alto grau

Cervical cancer is still one of the leading causes of cancer and mortality in women, especially in low- and middle-income countries. Normally, the prevention of its occurrence is done through efficient screening and treatment programs for high-grade epithelial lesions, which are pre-malignant lesions. Cheaper diagnostic techniques ensure greater access to women, which can prevent a large number of cancer cases worldwide. Objective: The aim of the study was to evaluate the accuracy of visual inspection either with acetic acid or with Lugol's iodine, cervical cytology and colposcopy in the diagnosis of cervical intraepithelial neoplasia 2 and 3. Methods: This is a study of diagnostic accuracy. We evaluated 115 women with high-grade squamous intraepithelial lesion confirmed by biopsy, 54 with cervical intraepithelial neoplasia 2 and 61 with cervical intraepithelial neoplasia 3, from January 2016 to December 2018 at the Lower Genital Tract Pathology and Colposcopy Service of the Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil. A comparative analysis of the visual inspection, Pap smear and colposcopy diagnostic methods was performed. Results: The average age was 33.1 years (standard deviation=9.83) for cervical intraepithelial neoplasia 2 cases and 35.2 years (standard deviation=7.97) for cervical intraepithelial neoplasia 3. In the cervical intraepithelial neoplasia 2 group, visual inspection tests were positive for high-grade squamous intraepithelial lesion in 98.1% of the cases with acetic acid and 94.4% with Lugol's iodine. Colposcopy identified a probable high-grade squamous intraepithelial lesion in 94.4% of the cases, while cytology only in 42.6%. In the cervical intraepithelial neoplasia 3 group, the visual inspection tests were positive for high-grade squamous intraepithelial lesion in 91.8% of the cases with acetic acid and 95.1% with Lugol's iodine. Colposcopy identified a probable high-grade squamous intraepithelial lesion in 93.5% of the cases, while cytology in 65.6%. Conclusion: Visual inspection with acetic acid and Lugol's iodine, and colposcopy test were more accurate for the diagnosis of cervical intraepithelial neoplasia 2 and 3 than through cytopathology. (AU)

Introdução: O câncer do colo de útero ainda é uma das principais causas de câncer e mortalidade em mulheres, especialmente em países de baixa e média renda. Normalmente, a prevenção de sua ocorrência é feita por meio de programas eficientes de triagem e tratamento de lesões epiteliais de alto grau, que são as lesões pré-malignas. Técnicas diagnósticas mais baratas garantem maior acesso às mulheres, podendo evitar um grande número de casos de câncer no mundo inteiro. Objetivo: O objetivo deste estudo foi avaliar a acurácia da inspeção visual (com ácido acético e com solução de lugol), da citologia cervical e da colposcopia no diagnóstico de neoplasias intraepiteliais cervicais 2/3. Métodos: Trata-se de um estudo de acurácia diagnóstica. Foram avaliadas 115 mulheres com lesão intraepitelial escamosa de alto grau confirmada por biópsia, 54 com neoplasias intraepiteliais cervicais 2 e 61 com neoplasias intraepiteliais cervicais 3, no período de janeiro de 2016 a dezembro de 2018 no Serviço de Patologia e Colposcopia do Trato Genital Inferior do Hospital de Clínicas de Porto Alegre, em Porto Alegre, Brasil. Foi realizada análise comparativa dos métodos de diagnóstico Inspeção visual com ácido acético, Inspeção visual com Solução de Lugol, colpocitologia oncótica e colposcopia. Resultados: A média de idade foi de 33,11 anos (DP 9,83) para os casos de neoplasias intraepiteliais cervicais 2 e de 35,28 anos (DP 7,97) para neoplasias intraepiteliais cervicais 3. No grupo de neoplasias intraepiteliais cervicais 2, os testes de inspeção visual foram positivos para tratamento de lesões epiteliais de alto grau em 98,1% dos casos com Inspeção visual com ácido acético e em 94,4% daqueles com Inspeção visual com Solução de Lugol. A colposcopia identificou provável tratamento de lesões epiteliais de alto grau em 94,4% dos casos, enquanto a citologia apenas 42,6%. No grupo neoplasias intraepiteliais cervicais 3, os testes de inspeção visual foram positivos para tratamento de lesões epiteliais de alto grau em 91,8% dos casos com Inspeção visual com ácido acético e em 95,1% daqueles com Inspeção visual com Solução de Lugol. A colposcopia identificou provável tratamento de lesões epiteliais de alto grau em 93,5% dos casos, enquanto a citologia em 65,6%. Conclusão: A inspeção visual (com ácido acético e com Solução de Lugol) e a colposcopia foram mais precisas para o diagnóstico de neoplasias intraepiteliais cervicais 2/3 do que a citopatologia. (AU)

Avaliação de validade de um sistema computacional na identificação de estudos duplicados / Evaluación de la validez de un sistema computacional en la identificación de estudios duplicados / Validity assessment of a computational system in the identification of duplicate studies

Resumo Objetivo Avaliar o desempenho do sistema web "Apoio à Revisão Sistemática" quanto à identificação de referências bibliográficas duplicadas, em comparação a outros programas. Métodos Trata-se de uma pesquisa metodológica que avalia o processo automático de identificação de duplicatas do sistema "Apoio à Revisão Sistemática" (versão 1.0), em comparação ao EndNote X9® e Rayyan® , considerando checagem manual como referência. Foi utilizado um conjunto de estudos relacionados a três temas sobre fibrose cística recuperados das bases de dados Pubmed, Embase e Web of Science. Para avaliação de desempenho, utilizaram-se a sensibilidade, especificidade, acurácia e área sob a curva ROC para cada software, em comparação à referência. Resultados As buscas nas bases de dados resultaram em 1332 estudos, sendo 273 (20,5%) verdadeiros duplicados. Em comparação aos dados de referência, o programa "Apoio à Revisão Sistemática" identificou maior proporção de duplicatas verdadeiras do que os demais. Os valores de sensibilidade, especificidade e acurácia do sistema "Apoio à Revisão Sistemática" apresentaram-se acima de 98%. Conclusão e implicações para a prática O sistema "Apoio à Revisão Sistemática" possui alta sensibilidade, especificidade e acurácia para identificação de estudos duplicados, otimizando o tempo e o trabalho dos revisores da área da saúde.

Resumen Objetivo Evaluar el desempeño del sistema web "Apoyo a la Revisión Sistemática" en cuanto a la identificación de referencias duplicadas en comparación a otros programas. Métodos Se trata de una investigación metodológica que evalúa el proceso automático de desduplicación del sistema web "Apoyo a la Revisión Sistemática" (versión 1.0), en comparación al EndNote X9® y Rayyan®, considerando la verificación manual como referencia. Fue utilizado, como ejemplo, un conjunto de estudios relacionados a tres temas sobre fibrosis quística recuperados de las bases de datos Pubmed, Embase y Web of Science. Se analizó la sensibilidad, especificidad, precisión y el área sobre la curva ROC de los programas. Resultados Las búsquedas en las bases de datos dieron como resultado 1332 estudios, siendo 273 (20,5%) verdaderos duplicados. En comparación a los datos de referencia, el programa "Apoyo a la Revisión Sistemática" identificó mayor proporción de duplicados verdaderos que los demás. Los valores de sensibilidad, especificidad y precisión del sistema "Apoyo a la Revisión Sistemática" fueron superiores a 98%. Conclusión e implicaciones para la práctica El sistema "Apoyo a la Revisión Sistemática" posee alta sensibilidad, especificidad y precisión para identificación de estudios duplicados obtenidos a partir de búsquedas en bases de datos en el área de salud, optimizando el trabajo de investigadores. Palabras clave Exactitud de los Datos; Bases de Datos Bibliográficas; Revisión Sistemática; Sensibilidad y Especificidad; Software.

Abstract Objective To evaluate the performance of the Systematic Review Support web-based system for the identification of duplicate records compared with similar software tools. Methods A methodological study was conducted assessing the automated process of de-duplication performed by the Systematic Review Support web-based system (version 1.0) versus the EndNote X9® and Rayyan® systems, adopting hand-checking as the benchmark reference for comparisons. A set of studies on three topics related to cystic fibrosis retrieved from the Pubmed, Embase and Web of Science electronic databases was used for testing purposes. The sensitivity, specificity, accuracy and area under the ROC curve of the software systems were compared to the benchmark values for performance evaluation. Results The database searches retrieved 1332 studies, of which 273 (20.5%) were true duplicates. The Systematic Review Support tool identified a larger proportion of true duplicates than the other systems tested. The sensitivity, specificity and accuracy of the Systematic Review Support tool exceeded 98%. Conclusion and implications for practice The Systematic Review Support system provided a high level of sensitivity, specificity and accuracy in identifying duplicate studies, optimizing time and effort by reviewers in the health field.

Validation of MyDiagnostick tool to identify atrial fibrillation in a multi-ethnic Asian population

INTRODUCTION@#MyDiagnostick is an atrial fibrillation (AF) screening tool that has been validated in the Caucasian population in the primary care setting.@*METHODS@#In our study, we compared MyDiagnostick with manual pulse check for AF screening in the community setting.@*RESULTS@#In our cohort of 671 candidates from a multi-ethnic Asian population, AF prevalence was found to be 1.78%. Of 12 candidates, 6 (50.0%) had a previous history of AF and another 6 (50.0%) were newly diagnosed with AF. Candidates found to have AF during the screening were older (72.0 ± 11.7 years vs. 56.0 ± 13.0 years, P < 0.0001) and had a higher CHADSVASC risk score (2.9 ± 1.5 vs. 1.5 ± 1.1, P = 0.0001). MyDiagnostick had a sensitivity of 100.0% and a specificity of 96.2%. In comparison, manual pulse check had a sensitivity of 83.3% and a specificity of 98.9%.@*CONCLUSION@#MyDiagnostick is a simple AF screening device that can be reliably used by non-specialist professionals in the community setting. Its sensitivity and specificity are comparable and validated across various studies performed in different population cohorts.

Evaluation of COVID-19 Antigen Test Kit Assay Analytical and Clinical Performance / 中国医疗器械杂志

Objective To rapidly screen patients with novel coronavirus pneumonia (COVID-19) infection including asymptomatic ones. Method Established a rapid detection test kit, and evaluated analytical and clinical performance of it. Result The minimum limit of detection of the reagent was 9.75×102 TCID50/mL; there was no cross-reaction and interference in the high-concentration samples of 29 common respiratory pathogens tested. The diagnostic sensitivity of clinical samples was 98.56%, specificity was 99.00%, and the total coincidence rate was 98.85%; the consistency test Kappa value is 0.974 5. The stratified analysis of positive samples with different Ct values showed that the coincidence rate within each stratum was greater than 95%. Conclusion This COVID-19 antigen test kit with excellent detection performance, fast detection speed, and portable operation. It can be used as a supplementary method for existing nucleic acid detection methods for early screening of new coronavirus.

Research Progress in Imaging-based Diagnosis of Benign and Malignant Enlarged Lymph Nodes in Non-small Cell Lung Cancer / 中国肺癌杂志

Non-small cell lung cancer (NSCLC) can be detected with enlarged lymph nodes on imaging, but their benignity and malignancy are difficult to determine directly, making it difficult to stage the tumor and design radiotherapy target volumes. The clinical diagnosis of malignant lymph nodes is often based on the short diameter of lymph nodes ≥1 cm or the maximum standard uptake value ≥2.5, but the sensitivity and specificity of these criteria are too low to meet the clinical needs. In recent years, many advances have been made in diagnosing benign and malignant lymph nodes using other imaging parameters, and with the development of radiomics, deep learning and other technologies, models of mining the image information of enlarged lymph node regions further improve the diagnostic accuracy. The purpose of this paper is to review recent advances in imaging-based diagnosis of benign and malignant enlarged lymph nodes in NSCLC for more accurate and noninvasive assessment of lymph node status in clinical practice.
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Accuracy of baseline low-dose computed tomography lung cancer screening: a systematic review and meta-analysis / 中华医学杂志(英文版)

BACKGROUND@#Screening using low-dose computed tomography (LDCT) is a more effective approach and has the potential to detect lung cancer more accurately. We aimed to conduct a meta-analysis to estimate the accuracy of population-based screening studies primarily assessing baseline LDCT screening for lung cancer.@*METHODS@#MEDLINE, Excerpta Medica Database, and Web of Science were searched for articles published up to April 10, 2022. According to the inclusion and exclusion criteria, the data of true positives, false-positives, false negatives, and true negatives in the screening test were extracted. Quality Assessment of Diagnostic Accuracy Studies-2 was used to evaluate the quality of the literature. A bivariate random effects model was used to estimate pooled sensitivity and specificity. The area under the curve (AUC) was calculated by using hierarchical summary receiver-operating characteristics analysis. Heterogeneity between studies was measured using the Higgins I2 statistic, and publication bias was evaluated using a Deeks' funnel plot and linear regression test.@*RESULTS@#A total of 49 studies with 157,762 individuals were identified for the final qualitative synthesis; most of them were from Europe and America (38 studies), ten were from Asia, and one was from Oceania. The recruitment period was 1992 to 2018, and most of the subjects were 40 to 75 years old. The analysis showed that the AUC of lung cancer screening by LDCT was 0.98 (95% CI: 0.96-0.99), and the overall sensitivity and specificity were 0.97 (95% CI: 0.94-0.98) and 0.87 (95% CI: 0.82-0.91), respectively. The funnel plot and test results showed that there was no significant publication bias among the included studies.@*CONCLUSIONS@#Baseline LDCT has high sensitivity and specificity as a screening technique for lung cancer. However, long-term follow-up of the whole study population (including those with a negative baseline screening result) should be performed to enhance the accuracy of LDCT screening.

Tumor cell-based glycolytic metabolism and single-cell sequencing of urinary exfoliated cells for the diagnosis and molecular profiling of urothelial carcinoma / 中华病理学杂志

Objective: To explore the diagnostic values of HK2 testing and single-cell sequencing in the urothelial carcinoma (UC). Methods: The qualified urine specimens of 265 suspected UC patients or postoperative patients from the Cancer Hospital of Chinese Academy of Medical Sciences, Beijing, China were collected. Both exfoliative cytology and HK2 testing were performed on clinically suspected UC or postoperative patients. The performance of diagnostic cytology and HK2, including consistency, sensitivity, specificity, positive predictive value and negative predictive value, was evaluated based on histopathological, clinical and imaging diagnosis. Isolated HK2 metabolically abnormal cells were subject to single-cell sequencing to verify the reliability of HK2 detection performance and to explore the molecular characteristics of UC. Results: The concordance rate of HK2 testing and cytology for detecting UC was 90.3% (102/113, Kappa=0.604). Compared with cytology, the sensitivity of HK2 was significantly higher (85.2% versus 75.6%, P=0.024). The detection sensitivity of combined HK2 testing and cytology was increased to 91.1%. HK2 testing was significantly more sensitive than cytology for diagnosing UC in the upper urinary tract (81.8% versus 65.5%, P=0.022). It was also more sensitive than cytology for diagnosing early-stage UC (82.6% versus 69.5%, P=0.375) and low-grade UC (69.6% versus 47.8%, P=0.125). Single-cell sequencing of the ten patients, whose samples were positive for HK2, demonstrated highly concordant copy number variations (CNVs) in tumor cells from the same UC patient, with heterogeneity in CNV profiles among different patients. Deletion of chromosome 8p was found in 3 of the 4 urine samples of renal pelvis UC. The 2 patients with benign lesions had no CNVs in all sequenced cells. Conclusions: The test for abnormal urinary glycolytic HK2 metabolism can assist urine cytology to improve the sensitivity of UC diagnosis, and it provides a novel and reliable approach for early detection of upper urinary tract UC and lower grade UC. Meanwhile, this study has preliminarily revealed the feasibility of single-cell sequencing in urinary samples, which is expected to improve the diagnostic specificity of HK2 testing.

Clinical value of the MeltPro MTB assays in detection of drug-resistant tuberculosis in paraffin-embedded tissues / 中华病理学杂志

Objective: To evaluate the clinical value of the MeltPro MTB assays in the diagnosis of drug-resistant tuberculosis. Methods: A cross-sectional study design was used to retrospectively collect all 4 551 patients with confirmed tuberculosis between January 2018 and December 2019 at Beijing Chest Hospital, Capital Medical University. Phenotypic drug sensitivity test and GeneXpert MTB/RIF (hereafter referred to as "Xpert") assay were used as gold standards to analyze the accuracy of the probe melting curve method. The clinical value of this technique was also evaluated as a complementary method to conventional assays of drug resistance to increase the detective rate of drug-resistant tuberculosis. Results: By taking the phenotypic drug susceptibility test as the gold standard, the sensitivity of the MeltPro MTB assays to detect resistance to rifampicin, isoniazid, ethambutol and fluoroquinolone was 14/15, 95.7%(22/23), 2/4 and 8/9,respectively; and the specificity was 92.0%(115/125), 93.2%(109/117), 90.4%(123/136) and 93.9%(123/131),respectively; the overall concordance rate was 92.1%(95%CI:89.6%-94.1%),and the Kappa value of the consistency test was 0.63(95%CI:0.55-0.72).By taking the Xpert test results as the reference, the sensitivity of this technology to the detection of rifampicin resistance was 93.6%(44/47), the specificity was100%(310/310), the concordance rate was 99.2%(95%CI:97.6%-99.7%), and the Kappa value of the consistency test was 0.96(95%CI:0.93-0.99). The MeltPro MTB assays had been used in 4 551 confirmed patients; the proportion of patients who obtained effective drug resistance results increased from 83.3% to 87.8%(P<0.01); and detection rate of rifampicin, isoniazid, ethambutol, fluoroquinolone resistance, multidrug and pre-extensive drug resistance cases were increased by 3.2%, 14.7%, 22.2%, 13.7%, 11.2% and 12.5%, respectively. Conclusion: The MeltPro MTB assays show satisfactory accuracy in the diagnosis of drug-resistant tuberculosis. This molecular pathological test is an effective complementary method in improving test positivity of drug-resistant tuberculosis.