Hostigamiento laboral y síndrome de burnout en personal sanitario en un hospital de referencia

Objetivo: Evaluar la asociación entre la exposición a hostigamiento laboral y la presencia de síndrome de burnout en el personal sanitario de un hospital de referencia peruano. Materiales y métodos: Estudio transversal, analítico. Se incluyó a médicos internistas, cirujanos, enfermeras, residentes, internos de medicina y técnicos de enfermería de los departamentos de Medicina y Cirugía del Hospital Nacional Hipólito Unanue en Lima, Perú. Se usaron los cuestionarios Maslach Burnout Inventory-Human Services Survey (MBI-HSS) y Negative Acts Questionnaire-Revised (NAQ-R) para la detección de burnout y hostigamiento, respectivamente. Adicionalmente, se evaluó la asociación con la edad, género, ocupación, estado civil, lugar de trabajo, conformidad con salario, carga familiar, actividad física, hábitos nocivos, vacaciones, afiliación religiosa, número de trabajos, remuneración mensual, tiempo de trabajo, horas laborales por semana, número de pacientes atendidos por día, guardias semanales y horas de descanso. El análisis multivariado se realizó mediante el uso de un modelo de regresión logística múltiple, para lo cual se utilizó como variable respuesta la presencia o no de burnout. Resultados: Se incluyeron a 206 participantes. De ellos, 22 (10,7 %) presentaron burnout y 27 (14 %), hostigamiento moderado a elevado. En el análisis bivariado, la edad (OR 0,94; IC 95 % 0,89-0,99; p = 0,02), el estado civil casados y convivientes (OR 2,85; IC 95 % 1,01-8,06; p = 0,04) y el hostigamiento (OR 5,20; IC 95 % 1,92-14,09; p = 0,009) se asociaron a la presencia de burnout. En el análisis multivariado, el único predictor significativo de burnout fue el hostigamiento laboral. La presencia de un hostigamiento moderado a elevado se asoció a un OR de 4,00 (IC 95 % 1,4-11,3; p = 0,009) comparado con bajos niveles de hostigamiento. Conclusiones: Es importante identificar a trabajadores de la salud con hostigamiento laboral por su fuerte asociación con el síndrome de burnout. Se considera indispensable la realización de una investigación complementaria que permita entender y abordar la problemática del hostigamiento laboral y su influencia en el desarrollo de burnout, así como estudios que permitan evaluar intervenciones destinadas a prevenir tanto el hostigamiento laboral como el burnout.

Objective: To determine the association between workplace harassment and burnout syndrome among healthcare personnel of a Peruvian referral hospital. Materials and methods: An analytical cross-sectional study which included internists, surgeons, nurses, residents, interns and nursing technicians from the Medicine and Surgery departments of Hospital Nacional Hipólito Unanue in Lima, Peru. The Maslach Burnout Inventory-Human Services Survey (MBI-HSS) and the Negative Acts Questionnaire-Revised (NAQ-R) were used for the assessment of burnout and harassment, respectively. Additionally, the association with age, gender, occupation, marital status, workplace, salary satisfaction, family burden, physical activity, harmful habits, vacations, religious affiliation, number of jobs, monthly remuneration, job tenure, working hours per week, number of patients seen per day, weekly shifts and rest hours was evaluated. A multivariate analysis was conducted using a multiple logistic regression model and the presence or absence of burnout as an outcome variable. Results: The study consisted of 206 participants, out of whom 22 (10.7 %) suffered burnout and 27 (14 %) moderate to severe harassment. In the bivariate analysis, age (OR 0.94; 95 % CI 0.89-0.99; p = 0.02), marital status such as married and cohabiting (OR 2.85; 95 % CI 1.01-8.06; p = 0.04) and harassment (OR 5.20; 95 % CI 1.92-14.09; p = 0.009) were associated with burnout. In the multivariate analysis, the only significant predictor of burnout was workplace harassment. Moderate to severe harassment was associated with OR 4.00 (95 % CI 1.4-11.3; p = 0.009) compared to mild harassment. Conclusions: It is important to identify health workers suffering workplace harassment due to its strong association with burnout syndrome. It is essential to carry out further research to understand and address the problem of workplace harassment and its influence on the development of burnout, as well as studies to evaluate interventions aimed at preventing both workplace harassment and burnout.

Robotic Partial Nephrectomy with En Bloc Removal of a Renal Vein Thrombus for Multiple cT3a Renal Cell Carcinoma Lesions.

Partial nephrectomy (PN) may be recommended for selected patients with advanced-stage (>cT2) renal cell carcinoma (RCC) with the aim of avoiding dialysis and chronic kidney disease-related comorbidities. The spread of robotic surgery has led to expansion of PN indications to more challenging scenarios and even frontier surgeries, including advanced-stage RCC. Here we describe the management of a patient with a solitary kidney diagnosed with multiple cT3a (renal vein thrombus) RCC who was treated using a conservative robotic approach. The most crucial surgical considerations for this procedure were: (1) tailored planning of the surgical approach using three-dimensional reconstruction software; (2) accurate boundary delineation for the tumors and thrombus; (3) avoiding unnecessary warm ischemia time; (4) performing an anatomical excision to follow eventual tumor bulging; and (5) en bloc removal of the main lesion and its thrombus. No perioperative complications were recorded. Histopathology revealed clear cell RCC for all four lesions with nucleolar grade 3 and negative surgical margins. At 12-mo follow-up the patient was disease-free. When performed by an experienced surgeon, PN plus venous thrombus excision for imperative cases with cT3 RCC may represent a valid treatment option with valuable oncological and functional outcomes. Patient summary: We describe the case of patient who had a single kidney with multiple kidney tumors and tumor extension into a blood vessel. The patient was treated with robot-assisted removal of the tumors, sparing as much kidney tissue as possible. This technique was found to be safe and effective, with no complications and good intermediate-term results.

Efecto del tinnitus sobre la calidad de vida y sus factores asociados en pacientes adultos / Effects of Tinnitus on the Quality of Life and its Associated Factors in Adult Patients

Introducción: El tinnitus es una condición de alta prevalencia que puede afectar la calidad de vida. Objetivos: Evaluar la calidad de vida y sus factores asociados en pacientes adultos con tinnitus. Métodos: Estudio analítico transversal. La población incluida fueron pacientes adultos con síntoma de tinnitus, atendidos en el servicio de otorrinolaringología en un hospital de referencia en Lima, Perú. El efecto del tinnitus sobre la calidad de vida fue medida mediante el cuestionario Tinnitus Handicap Inventory. Resultados: Se incluyeron 151 pacientes con tinnitus; 31,2 por ciento fueron varones y la media de edad fue 66 años, 17,2 por ciento y 23,1 por ciento de pacientes con tinnitus tuvieron antecedentes de trastornos depresivos y desórdenes de ansiedad, respectivamente; 85,4 por ciento y 62,2 por ciento de pacientes con tinnitus presentaron hipoacusia y cefalea, respectivamente. El Tinnitus Handicap Inventory tuvo una mediana de 26 (rango intercuartil: 8-50), un valor mínimo de 0 y un valor máximo de 100. De los pacientes, 101 (66,8 por ciento) tuvieron una discapacidad leve a moderada debido al tinnitus y 50 (33 por ciento) discapacidad moderada a severa. En el análisis multivariado se encontró que la ansiedad (OR = 2,59; IC 95 por ciento 1,14-5,9; p = 0,02), hipoacusia (OR = 12,9; IC 95 por ciento 1,65-102,1; p= 0,01) y cefalea (OR = 2,61; IC 95 por ciento 1,18-5,8; p = 0,01) se asociaron con discapacidad moderada a severa debido al tinnitus. Conclusiones: Los pacientes adultos con tinnitus frecuentemente tuvieron una afectación moderada a severa de su calidad de vida. Los factores asociados a discapacidad moderada a severa debido a tinnitus fueron la ansiedad, cefalea e hipoacusia(AU)

Introduction: Tinnitus is a highly prevalent condition that can affect the quality of life of patients. Objective: To assess the quality of life and its associated factors in adult patients with tinnitus. Methods: Cross-sectional and analytical study carried out with a population that included adult patients with tinnitus symptoms attended in the otorhinolaryngology service of a reference hospital in Lima, Peru. The effect of tinnitus on quality of life was measured using the Tinnitus Handicap Inventory. Results: The study included 151 patients with tinnitus: 31.2 percent were male and the mean age was 66 years, while 17.2 percent and 23.1 percent of patients with tinnitus had a history of depressive disorders and anxiety disorders, respectively. Of tinnitus patients, 85.4 percent and 62.2 percent had hearing loss and headache, respectively. The Tinnitus Handicap Inventory showed a median value of 26 (interquartile: 8-50), a minimum value of 0, and a maximum value of 100. Of the patients, 101 (66.8 percent) had mild to moderate disability due to tinnitus, while 50 (33 percent) had moderate to severe disability. In multivariate analysis, anxiety (OR=2.59; 95 percent CI: 1.14-5.9; P= 0.02), hearing loss (OR= 12.9; 95 percent CI: 1.65-102.1; P= 0.01) and headache (OR= 2.61; 95 percent CI 1.18-5.8; p= 0.01) were found to be associated with moderate to severe disability due to tinnitus. Conclusions: Adult patients with tinnitus frequently had moderate to severe impairment of their quality of life. Factors associated with moderate to severe disability due to tinnitus were anxiety, headache, and hearing loss(AU)

Utilidad diagnóstica de la colonoscopia y evaluación histológica en el estudio de pacientes con diarrea crónica / Diagnostic utility of colonoscopy and histological evaluation in the study of patients with chronic diarrhea

RESUMEN Introducción: Los pacientes con diarrea crónica con frecuencia se someten a la evaluación con colonoscopia, sin embargo, la realización de biopsias o ileoscopia permanece controversial. Objetivo: Evaluar la utilidad de la colonoscopia más biopsias en el estudio de pacientes con diarrea crónica. Materiales y métodos: Retrospectivamente revisamos pacientes con diarrea crónica que fueron llevados a colonoscopia entre 2015 a 2019. Se excluyeron pacientes con datos incompletos, infección por VIH, hallazgos endoscópicos anormales, colonoscopia sin valoración del ciego, estar en tratamiento empírico para la diarrea y mala preparación. Se realizó análisis descriptivo de las características de los pacientes, hallazgos histopatológicos y comparación de signos y síntomas según hallazgo histopatológico. Resultados: Se evaluaron 535 pacientes con diarrea crónica, de estos, a 283 (52,8%) se les realizó biopsias. En el 55,1% (n=156) de las biopsias se obtuvo algún diagnóstico histopatológico final. Los diagnósticos histopatológicos correspondieron a colitis ulcerativa (n=3), enfermedad de Crohn (n=5), colitis linfocítica (n=6), colitis colágena (n=12), colitis eosinofílica (n=13), colitis infecciosa (n=13), Melanosis coli (n=15), colitis inespecífica (n=57) y otros cambios histológicos (n=32). La enfermedad de Crohn solo se documentó en biopsias de íleon (p<0,001), la colitis ulcerativa solo se diagnosticó en biopsias del recto sigmoide (p=0,007), la colitis infecciosa en su mayor proporción (30,7%) se documentó en biopsias del colon derecho (p=0,028). Conclusión: La colonoscopia y las biopsias son útiles en la investigación de pacientes con diarrea crónica, obteniendo un diagnóstico histológico en el 55% de los pacientes. La ileoscopia complementó los hallazgos de la colonoscopia en menor proporción.

ABSTRACT Introduction: Patients with chronic diarrhea often undergo colonoscopy evaluation, however, the performance of biopsies or ileoscopy remains controversial. Objective: To evaluate the usefulness of colonoscopy plus biopsies in the study of patients with chronic diarrhea. Materials and methods: We retrospectively reviewed patients with chronic diarrhea who underwent colonoscopy between 2015 and 2019. Patients with incomplete data, HIV infection, abnormal endoscopic findings, colonoscopy without blind assessment, being on empiric treatment for diarrhea, and poor diagnosis were excluded. preparation. A descriptive analysis of the characteristics of the patients, histopathological findings and comparison of signs and symptoms according to histopathological finding was performed. Results: 535 patients with chronic diarrhea were evaluated, of these, 283 (52.8%) underwent biopsies. In 55.1% (n=156) of the biopsies some final histopathological diagnosis was obtained. Histopathological diagnoses corresponded to ulcerative colitis (n=3), Crohn's disease (n=5), lymphocytic colitis (n=6), collagenous colitis (n=12), eosinophilic colitis (n=13), infectious colitis (n=13), Melanosis coli (n=15), nonspecific colitis (n=57) and other histological changes (n=32). Crohn's disease was only documented in biopsies of the ileum (p<0.001), ulcerative colitis was only diagnosed in biopsies of the sigmoid rectum (p=0.007), infectious colitis in its highest proportion (30.7%) was documented in biopsies of the right colon (p=0.028). Conclusion: Colonoscopy and biopsies are useful in the investigation of patients with chronic diarrhea, obtaining a histological diagnosis in 55% of patients. Ileoscopy complemented colonoscopy findings to a lesser extent.

A novel test for annexin A5 M2 haplotyping in in vitro fertilization patients and preimplantation embryos.

OBJECTIVE: To develop a test for evaluating the annexin A5 M2 haplotype in in vitro fertilization patients and preimplantation embryos. DESIGN: Test performance was measured by comparing Sanger sequencing of parental blood DNA and quantitative real-time polymerase chain reaction (qPCR) of saliva DNA, 3 fibroblast cell line 7-cell aliquots and their corresponding purified DNA, 123 trophectoderm biopsy samples, and DNA isolated from 1 embryonic stem cell line along with the Mendelian inheritance expectations, embryo Sanger sequencing, and single-nucleotide polymorphism (SNP) microarray-based linkage analysis. SETTING: Preimplantation genetic testing laboratory research on IVF patient and embryo DNA. PATIENT(S): An assay was developed for the detection of the M2 haplotype on saliva samples of 6 in vitro fertilization patients. In addition, 13 patients who underwent preimplantation genetic testing with data on parental and embryo biopsy DNA available for research use were evaluated. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): The concordance rates between Sanger sequencing, SNP array-based linkage analysis, and Mendelian inheritance expectations with qPCR. RESULT(S): The concordance rate between Sanger sequencing and qPCR was 100% on parental blood DNA and saliva DNA. The sample concordance rate between all replicates of 7-cell aliquots was 100%. The sample concordance rate between 3 cell lines used to prepare 7-cell aliquots and purified genomic DNA was 100%. The concordance rate between qPCR and Sanger sequencing results from a single trophectoderm biopsy and isolated embryonic stem cell line was 100%. The concordance rate of trophectoderm biopsy qPCR results and expectations from Mendelian inheritance rules was 97%; however, when SNP array-based linkage analysis was included, the concordance rate reached 100%. CONCLUSION(S): This study resulted in the development of a convenient saliva collection method and qPCR-based genotyping method to screen for the M2 haplotype. In addition, a novel method for testing preimplantation embryos has been established, providing an alternative to the use of low molecular weight heparin, through selection of embryos without the M2 haplotype.

[Diagnostic utility of colonoscopy and histological evaluation in the study of patients with chronic diarrhea]. / Utilidad diagnóstica de la colonoscopia y evaluación histológica en el estudio de pacientes con diarrea crónica.

INTRODUCTION: Patients with chronic diarrhea often undergo colonoscopy evaluation, however, the performance of biopsies or ileoscopy remains controversial. OBJECTIVE: To evaluate the usefulness of colonoscopy plus biopsies in the study of patients with chronic diarrhea. MATERIALS AND METHODS: We retrospectively reviewed patients with chronic diarrhea who underwent colonoscopy between 2015 and 2019. Patients with incomplete data, HIV infection, abnormal endoscopic findings, colonoscopy without blind assessment, being on empiric treatment for diarrhea, and poor diagnosis were excluded. preparation. A descriptive analysis of the characteristics of the patients, histopathological findings and comparison of signs and symptoms according to histopathological finding was performed. RESULTS: 535 patients with chronic diarrhea were evaluated, of these, 283 (52.8%) underwent biopsies. In 55.1% (n=156) of the biopsies some final histopathological diagnosis was obtained. Histopathological diagnoses corresponded to ulcerative colitis (n=3), Crohn's disease (n=5), lymphocytic colitis (n=6), collagenous colitis (n=12), eosinophilic colitis (n=13), infectious colitis (n=13), Melanosis coli (n=15), nonspecific colitis (n=57) and other histological changes (n=32). Crohn's disease was only documented in biopsies of the ileum (p<0.001), ulcerative colitis was only diagnosed in biopsies of the sigmoid rectum (p=0.007), infectious colitis in its highest proportion (30.7%) was documented in biopsies of the right colon (p=0.028). CONCLUSION: Colonoscopy and biopsies are useful in the investigation of patients with chronic diarrhea, obtaining a histological diagnosis in 55% of patients. Ileoscopy complemented colonoscopy findings to a lesser extent.

Acute effect of a maximum incremental test until exhaustion on malondialdehyde and antioxidant vitamins in plasma and erythrocytes in athletes.

INTRODUCTION: Background: it is well known that moderate or vigorous physical exercise produces an increase in free radicals. Aim: the aims of this study were to observe changes in malondialdehyde and antioxidant vitamins after a maximum incremental test, and to relate malondialdehyde and antioxidant vitamin values to performance parameters. Methods: eighty-four male athletes participated in this study. Participants performed a maximum incremental test until exhaustion on a treadmill. Malondialdehyde in plasma and antioxidant vitamins in plasma and erythrocytes were determined before and after the test. Results: in plasma, there was a decrease in malondialdehyde after the test. In erythrocytes, results showed increases in vitamin C and decreases in vitamin E after the test. Maximal oxygen uptake values were associated positively with vitamin C and negatively with malondialdehyde levels before the test. On the other hand, maximal oxygen uptake, total test time, and total test distance were positively related to the malondialdehyde values obtained after the test. Conclusions: a maximum incremental test did not produce any changes in plasma vitamins in athletes. However, it increased the levels of vitamin C in erythrocytes and decreased malondialdehyde values in plasma and vitamin E in erythrocytes. The levels of malondialdehyde, vitamin C and vitamin E were related to performance parameters. These results may be linked to the adaptation of antioxidant systems due to regular training.

INTRODUCCIÓN: Introducción: es sabido que el ejercicio físico moderado o vigoroso produce un aumento de radicales libres. Objetivos: los objetivos del estudio fueron: observar los cambios del malondialdehído y las vitaminas antioxidantes después de un test incremental máximo y relacionar los niveles de malondialdehído y vitaminas antioxidantes con parámetros de rendimiento. Métodos: ochenta y cuatro atletas masculinos participaron en el estudio. Los participantes realizaron un test incremental hasta la extenuación en un tapiz rodante. El malondialdehído en plasma y las vitaminas antioxidantes en plasma y en eritrocitos se determinaron antes y después del test incremental. Resultados: en el plasma hubo una disminución del malondialdehído después de la prueba incremental. En los eritrocitos, los resultados mostraron un aumento de la vitamina C y un descenso de la vitamina E después de la prueba. El consumo máximo de oxígeno se asoció positivamente con la vitamina C e inversamente con el malondialdehído antes del test. Por otro lado, el consumo máximo de oxígeno, el tiempo total del test y la distancia total durante el test se asociaron positivamente con los valores de malondialdehído obtenidos tras el test máximo. Conclusión: un test incremental máximo hasta la extenuación no produjo cambios en las vitaminas antioxidantes del plasma. Sin embargo, sí aumentó los niveles de vitamina C en los eritrocitos y redujo los niveles de malondialdehído en el plasma y los de vitamina E en los eritrocitos. Los niveles de malondialdehído, vitamina C y vitamina E se relacionaron con los parámetros de rendimiento. Estos resultados podrían estar relacionados con la adaptación de los sistemas antioxidantes debido al entrenamiento regular.

Preimplantation Genetic Testing for Polygenic Disease Relative Risk Reduction: Evaluation of Genomic Index Performance in 11,883 Adult Sibling Pairs.

Preimplantation genetic testing for polygenic disease risk (PGT-P) represents a new tool to aid in embryo selection. Previous studies demonstrated the ability to obtain necessary genotypes in the embryo with accuracy equivalent to in adults. When applied to select adult siblings with known type I diabetes status, a reduction in disease incidence of 45-72% compared to random selection was achieved. This study extends analysis to 11,883 sibling pairs to evaluate clinical utility of embryo selection with PGT-P. Results demonstrate simultaneous relative risk reduction of all diseases tested in parallel, which included diabetes, cancer, and heart disease, and indicate applicability beyond patients with a known family history of disease.

Cavoscopy in the surgical treatment of renal cell carcinoma with vena cava thrombus. Systematic review. / Utilización de la cavoscopia en la cirugía del carcinoma de células renales con trombo en cava. Revisión de conjunto.

OBJECTIVE: To perform a literature review on the use of cavoscopy during surgery for renal cell carcinoma with vena cava thrombus (RCCVCT), according to the criteria of Evidence-Based Medicine. MATERIAL AND METHODS: We performed a Pubmed search for studies published with the following keywords: "renal tumor thrombus", "renal tumor cavoscopy" and "cystoscopy thrombus", without time limit and in English. With these criteria, 5 articles were identified with a total of 41 patients. All studies found are case series and expert opinions, so the degree of evidence in the use of cavoscopy in RCCVCT is low. RESULTS: RCCVCT surgery is a complex technique, which can reach over 50% 5-year survival, when a complete oncological resection is achieved. One of the keys for surgical success is complete resection of tumor thrombus, having used different techniques for its verification. One of them is cavoscopy, which consists on the introduction of a flexible cystoscope through the cavotomy incision after thrombectomy, checking the lumen of the vena cava with saline serum irrigation. In two series of clinical cases, cavoscopy detected thrombus persistence in 22% and 43% of patients respectively, allowing resection. The entire resected thrombus showed malignancy in several cases. CONCLUSION: Cavoscopy is a technique that improves detection of tumor remnants after thrombectomy in comparison to indirect review methods. Although oncological impact of caval thrombus is controversial, the use of cavoscopy allows a more complete resection of the thrombus, and it may offer a possible increase in the recurrence-free survival of these patients.

OBJETIVO: Realización de una revisión bibliográfica sobre la utilización de la cavoscopia en la cirugía del carcinoma de células renales con trombo en cava (CCRTC), según los criterios de la Medicina Basada en la Evidencia. MATERIAL Y  MÉTODOS: Búsqueda en Pubmed de los estudios publicados con las siguientes palabras clave: "renal tumor thrombus", "renal tumor cavoscopy" y "cystoscopy thrombus", sin límite de tiempo y en inglés. Con estos criterios se identificaron 5 artículos con un total de 41 pacientes. Todos los estudios encontrados son series de casos y opiniones de expertos, por lo que el grado de evidencia en la utilización de la cavoscopia en el CCRTC es baja. RESULTADOS: La cirugía del CCRTC se trata de una técnica compleja, que puede alcanzar una supervivencia a los 5 años de más del 50% cuando se consigue una resección oncológica completa. Una de las claves del éxito de la cirugía es la resección completa del trombo tumoral, habiéndose utilizado diferentes técnicas para su comprobación. Una de ellas es la cavoscopia, que se basa en la introducción de un cistoscopio flexible a través de la cavotomía, revisando la luz de la vena cava con irrigación de suero salino tras la trombectomía. Su realización en dos series de casos clínicos detectó persistencia de trombo en el 22% y 43% de los pacientes respectivamente, permitiendo su resección. La totalidad del trombo resecado demostró malignidad en varios casos.CONCLUSIÓN: La cavoscopia es una técnica que mejora la detección de restos tumorales tras la trombectomía respecto a los métodos indirectos de revisión. Aunque el impacto oncológico del trombo en cava continúa siendo debatido, la utilización de la cavoscopia permite una resección más completa del trombo en cava, pudiendo ofrecer un posible aumento en la supervivencia libre de recurrencia de estos pacientes.

Efectos de un protocolo de ayuno intermitente sobre la composición corporal y perfil lipídico en estudiantes universitarios / Effects of a protocol of intermittent fasting on body composition and lipids profile in university students

El ayuno intermitente es una estrategia nutricional de creciente interés para el control del peso y mejora de la salud metabólica. El objetivo del presente estudio fue evaluar el efecto de un protocolo de ayuno intermitente sobre la composición corporal, perfil lipídico y los biomarcadores de riesgo cardiovascular en estudiantes universitarios. En este estudio experimental participaron 30 sujetos varones y fueron divididos aleatoriamente en dos grupos, 15 sujetos constituían el grupo experimental (GE) (edad: 20,83±0,98 años) y 15 el grupo control (GC) (edad: 23,71±5,55 años). El GE realizó un protocolo de ayuno 16/8, dieciséis horas de ayuno y ocho horas de ingesta calórica sin limitaciones, dos días consecutivos a la semana durante cinco semanas. Se evaluó la composición corporal, la ingesta calórica, el perfil lipídico y los biomarcadores del riesgo cardiovascular al inicio, mitad y final del protocolo. Se observaron descensos significativos en el GE en pliegues cutáneos, perímetro cintura, porcentaje de grasa, perfil lipídico y biomarcadores del riesgo cardiovascular en comparación con GC (p<0,05). Se encontraron incrementos significativos en la ingesta de colesterol y ácidos grasos poliinsaturados en el GE al final del estudio (p<0,05). Se observaron descensos en el colesterol total, triglicéridos, lipoproteínas de baja densidad y biomarcadores del riesgo cardiovascular a lo largo del protocolo en el GE (p<0,05). Un protocolo de ayuno intermitente 16/8, dos días consecutivos por semana, durante cinco semanas, parece efectivo para mejorar parámetros de composición corporal y perfil lipídico, así como para mejorar los biomarcadores relacionados con el riesgo cardiovascular(AU)

Intermittent fasting is a nutritional strategy of high interest in weight control and improvement of metabolic health. The objective of this study was to evaluate the effect of an intermittent fasting protocol on body composition, lipid profile and biomarkers of cardiovascular risk in university students. In this experimental study thirty male subjects participated and were randomly divided into two groups; fifteen subjects constituted the experimental group (GE) (age: 20.83 ± 0.98 years) and fifteen the control group (GC) (age: 23.71 ± 5.55 years). The GE performed a fasting protocol 16/8, sixteen hours of fasting and eight hours of caloric intake without limitations, two consecutive days per week for five weeks. Body composition, calorie intake, lipid profile and biomarkers of cardiovascular risk were evaluated at the beginning, middle and at the end of the protocol. Significant decreases were found in GE in skinfolds, waist perimeter, % fat, lipid profile and biomarkers of cardiovascular risk as compared to GC (p <0.05). There were significant increases in the intake of cholesterol and polyunsaturated fatty acids in the GE at the end of the study (p <0.05). There were decreases in total cholesterol, triglycerides, low-density lipoproteins, and biomarkers of cardiovascular risk throughout the study in GE (p<0.05). An intermittent fasting protocol 16/8, two consecutive days per week, for five weeks, seems effective to improve parameters of body composition and lipid profile, as well as to improving biomarkers related to cardiovascular risk(AU)

Respuesta superovulatoria en vacas donantes Brahman usando ablación folicular previo a protocolos de superovulación / Superovulatory response in Brahman donor cows using follicular ablation before superovulation protocols

RESUMEN Objetivo. Determinar el efecto de la ablación folicular en el inicio de un protocolo de superovulación (SPO) sobre la respuesta superovulatoria en vacas donantes de raza Brahman. Materiales y métodos. Se utilizaron 20 vacas de raza Brahman, las cuales fueron distribuídas aleatoriamente en dos grupos: Grupo control (G1; n = 10), la sincronización de la onda de crecimiento folicular fue realizada mediante la combinación de estrógenos (2.5 mg, Benzoato de Estradiol) y progestágenos (1 gr, implante intravaginal); cuatro días después se inició el protocolo de SPO con la hormona folículoestimulante porcina (FSHp); y grupo ablación (G2; n = 10), se realizó la ablación folicular y un día después se inició el tratamiento de SPO con FSHp . En los dos grupos la colecta de los embriones se realizó siete días después de la primera inseminación artificial. Resultados. El G2 presentó una mayor proporción de embriones de calidad 1 (p<0.01) en comparación con el G1 (68.60%, 31.22%), mientras que los animales del grupo G1 presentaron una mayor proporción de embriones de calidad 2 (43.04%, 18.60%, p<0.01). Para las variables total de estructuras colectadas, y total de embriones transferibles, no se observaron diferencias significativas (p>0.05). Conclusiones. La ablación folicular aumentó el porcentaje de embriones de calidad 1, sugiriendo que la implementación de esta técnica, como estrategia para sincronizar el inicio de una nueva onda de crecimiento folicular en tratamientos de SPO, mejora la calidad de los embriones producidos en vacas donadoras Brahman.

ABSTRACT Objective. The objective of this study was to determine the effect of follicular ablation at the beginning of a superovulation protocol (SOP) on the superovulatory response of Brahman donor cows. Materials and methods. Twenty Brahman cows were used, randomly distributed in two groups: control group (G1, n = 10), synchronization of the follicular growth wave was performed by the combination of estrogens (2.5 mg, estradiol benzoate) and progestagens (1 gr intravaginal implant); four days after starting the SOP with porcine follicle stimulating hormone (FSHp); and the ablation group (G2, n = 10), follicular ablation was performed and one day after, the SOP treatment with FSHp was initiated. In both groups, embryo collection was performed seven days after the first artificial insemination. Results. The G2 had a higher proportion of quality 1 embryos (p<0.01) compared to G1 (68.60% vs. 31.22%), while animals of G1 group had a higher proportion of quality 2 embryos (43.04% vs. 18.60%, p<0.01). For the total of structures collected and the total of transferable embryos, no significant differences were observed (p>0.05). Conclusions. Follicular ablation increased the percentage of quality 1 embryos, suggesting that the implementation of this technique, as a strategy to synchronize the beginning of a new wave of follicular growth when using SOP, improve embryo quality in Brahman donor cows.

Desenlaces cardiovasculares adversos mayores en pacientes con síndrome coronario agudo temprano / Major adverse cardiovascular outcomes in patients with early acute coronary syndrome

Resumen Introducción y objetivo: la enfermedad coronaria se ha convertido en una de las principales causas de muerte en los individuos menores de 55 años en las últimas décadas, hecho que hace necesario ampliar el conocimiento en esta población creciente, su caracterización, factores de riesgo y desenlaces clínicos en el tiempo. Métodos: se realizó un estudio de cohorte para evaluar el efecto de los factores de riesgo cardiovasculares, así como las variables clínicas y angiográficas sobre la incidencia de un desenlace adverso cardiovascular mayor, en pacientes con un primer evento coronario agudo antes de los 55 años. Se realizó una asociación entre las variables y el tiempo libre a un desenlace cardiovascular mayor adverso. Resultados: se reclutaron 193 pacientes, con un seguimiento de 1,7 años por paciente. La mediana de edad fue 51 años. Se encontró asociación entre el tipo de evento coronario, infarto agudo del miocardio con elevación del ST (RR=8,4 IC95% 1,9-37,4) y puntaje de Killip > II (RR 5,57, IC 95% 1,2 - 25,2), con mayor número de complicaciones intrahospitalarias. Aquellos con compromiso de la arteria circunfleja (RR=4,5 IC95% 1,65 - 12,4) y requerimiento de implante de tres o más prótesis intracoronarias (RR 4,7 IC95% 1,7-12,7), presentaron mayor riesgo de sufrir nuevo evento cardiovascular mayor. Conclusión: los pacientes menores de 55 años con síndrome coronario agudo y compromiso de la arteria circunfleja o requerimiento de implante de más de tres stents, tienen mayor número de desenlaces cardiovasculares adversos.

Abstract Introduction and objective: Coronary disease has become one of the main causes of death in individuals less than 55 years-old in the last 20-30 years or so. This has led to the need to increase the knowledge in this growing population, as well as its characteristics, risk factors and eventual clinical outcomes. Methods: A cohort study was conducted in order to evaluate the effect of the cardiovascular risk factors, as well as the clinical and coronary angiography variables on the incidence of a major adverse cardiovascular outcome, in patients with a first acute coronary event before 55 years-old. Correlations were performed between the variables and the time free from a major adverse cardiovascular outcome. Results: The study included 193 patients, with a mean follow-up of 1.7 years per patient. The median age was 51 years. An association was found between the type of coronary event, acute myocardial infarction with ST elevation (RR=8.4, 95% CI; 1.9-37.4) and a Killip score > II (RR 5.57, 95% CI; 1.2 - 25.2), with a greater number of in-hospital complications. Those with circumflex artery involvement (RR=4.5, 95%CI; 1.65 - 12.4) and a requirement for three or more coronary stent implants (RR 4.7, 95%CI; 1.7-12.7), had a higher risk of suffering a new cardiovascular event. Conclusion: Patients less than 55 years-old with acute coronary syndrome and circumflex artery involvement, or the requirement of the implanting more than three stents, have a higher number of adverse cardiovascular outcomes.

DNA methylation-based age prediction and telomere length in white blood cells and cumulus cells of infertile women with normal or poor response to ovarian stimulation.

An algorithm assessing the methylation levels of 353 informative CpG sites in the human genome permits accurate prediction of the chronologic age of a subject. Interestingly, when there is discrepancy between the predicted age and chronologic age (age acceleration or "AgeAccel"), patients are at risk for morbidity and mortality. Identification of infertile patients at risk for accelerated reproductive senescence may permit preventative action. This study aimed to assess the accuracy of the "epigenetic clock" concept in reproductive age women undergoing fertility treatment by applying the age prediction algorithm in peripheral (white blood cells [WBCs]) and follicular somatic cells (cumulus cells [CCs]), and to identify whether women with premature reproductive aging (diminished ovarian reserve) were at risk of AgeAccel in their age prediction. Results indicated that the epigenetic algorithm accurately predicts age when applied to WBCs but not to CCs. The age prediction of CCs was substantially younger than chronologic age regardless of the patient's age or response to stimulation. In addition, telomeres of CCs were significantly longer than that of WBCs. Our findings suggest that CCs do not demonstrate changes in methylome-predicted age or telomere-length in association with increasing female age or ovarian response to stimulation.

Conventional versus minimal ovarian stimulation: an intra-patient comparison of ovarian response in poor-responder women according to Bologna Criteria.

RESEARCH QUESTION: Is minimal ovarian stimulation (MOS) as effective as conventional ovarian stimulation (COS) in ovarian response and embryo quality in the same 46 poor-responder patients according to the Bologna criteria? DESIGN: An intra-patient comparison of patients undergoing both protocols. Ovaries were stimulated with either a gonadotrophin-releasing hormone antagonist protocol and a combination of recombinant FSH and highly purified human menotrophin (HP-HMG) daily (COS), or with the use of clomiphene citrate 50 mg daily and 150 IU of HP-HMG or recombinant FSH every other day from simulation day 4 (MOS). RESULTS: After MOS, significantly more good-quality embryos (1.0 ± 1.2 versus 0.3 ± 0.6) (P = 0.002), oocytes (3.2 ± 1.9 versus 2.0 ± 1.8) (P = 0.002), and mature (metaphase II) oocytes (2.6 ± 1.7 versus 1.6 ± 1.7) (P = 0.001) were obtained. In COS cycles, a significantly higher total gonadotrophin dose was needed per good-quality embryo (+2194 IU; 95% CI 618 to 3170). CONCLUSIONS: In poor responder patients, MOS is a good alternative when COS has failed, or even as a first-line treatment. It offered a significantly greater number of good-quality embryos as well as a higher number of oocytes, using significantly lower doses of gonadotrophins per oocyte and embryo obtained.

Extracellular vesicles: a promising tool for assessment of embryonic competence.

PURPOSE OF REVIEW: Extracellular vesicles have recently emerged as a promising field of research due to their pivotal roles in intercellular communication and potential to serve as biomarkers. This review focuses on extracellular vesicles secreted by the human preimplantation embryo. The most recent findings on embryo-derived extracellular vesicles are described and discussed, as well as current technical challenges to study them. RECENT FINDINGS: So far, only a few studies have addressed extracellular vesicles of embryonic origin and explored their potential as biomarkers for embryo selection. Two main hypotheses have driven interest in studying extracellular vesicles in IVF embryo-conditioned culture media. On the one hand, the potential roles of extracellular vesicles in mediating the embryo-endometrial crosstalk for proper implantation. On the other hand, the profile of secreted extracellular vesicles as an indicator of embryonic fitness irrespective of any involvement or communication with the endometrium. Embryo-derived extracellular vesicles have already been investigated to design diagnostic tests for embryo viability, however with small sample sizes or without extensive technology validation. SUMMARY: Extracellular vesicles offer indeed a novel means to assess embryonic fitness. Further validation studies, technology development and more complex study designs are certainly required to implement the profiling of embryonic extracellular vesicles as a diagnostic test for embryo selection.

Atrial myxoma in a patient with patent foramen ovale: evaluation with multimodal imaging. Case report / Mixoma auricular en un paciente con foramen oval permeable: evaluación con imágenes multimodales. Reporte de un caso

Abstract: Primary cardiac tumors in adults are rare and mostly benign, approximately 75%, being the myxoma the most frequent in half of that percentage. One-fourth of the primary cardiac tumors are malignant and 95% of the cases are sarcomas. Metastases are more frequent than primary tumors. Cardiac surgery is indicated specially in benign masses and therapies such as chemotherapy and/or radiotherapy should be reserved for unresectable or metastatic malignancies. Hence the importance of a diagnostic approach, which leads to the best therapeutic conduct and in many cases, a multimodal image approach is necessary, as it is exposed in our case.(AU)

Resumen: Los tumores cardiacos primarios en adultos son raros y en su mayoría benignos, aproximadamente el 75%, siendo el mixoma el más frecuente en la mitad de ese porcentaje. Un cuarto de los tumores cardiacos primarios son malignos y el 95% de los casos son sarcomas. Las metástasis son más frecuentes que los tumores primarios. La cirugía cardiaca está indicada especialmente en masas benignas y las terapias como la quimioterapia y/o la radioterapia deben reservarse para tumores malignos o metástasis irresecables. De ahí la importancia de un enfoque de diagnóstico, que conduzca a la mejor conducta terapéutica y, en muchos casos, es necesario un enfoque de imagen multimodal, como está expuesto en nuestro caso.(AU)

Oxidative stress, lipid peroxidation indexes and antioxidant vitamins in long and middle distance athletes during a sport season.

BACKGROUND: The main objective of this study was to observe any changes and possible adaptations produced in MDA and antioxidants vitamins on plasma and erythrocytes in endurance male athletes among an athletic season (12 months). METHODS: Twenty three long and middle distance male athletes participated in this study. Basal MDA on plasma and antioxidant vitamins in plasma and erythrocytes were measured at four moments along the season (0, 3, 6 and 9 months). Fatty acid concentrations in erythrocytes were obtained to determine lipid peroxidation indexes. RESULTS: In plasma, vitamin C suffered significant decreases at 3 and 6 months compared with the begin (P<0.01), and an increase at 9 months, compared with 3 months. On the other hand, vitamin A level was significantly lower at 9 months compared with the other periods (P<0.01 compared with 0 and 6 months; P<0.05 compared with 3 months). In erythrocytes, significant decreases were observed in vitamin E among the season at 6 months and an increase from 6 to 9 months (P<0.05). Vitamin A suffers a significant decrease in both for competitive periods, at 3 and 9 months, compared with the beginning of the season. The most of changes in lipid peroxidation indexes were produced along the firsts 3 months. CONCLUSIONS: 1) Physical training improves the antioxidant systems in order to reduce lipid peroxidation in trained athletes along the season; 2) PUFA/SFA ratios seem more reliable than MDA to observe oxidative stress.

Effect of seasonality on the quality of bovine oocytes selected by the brilliant cresyl blue method / Efecto de la estacionalidad en la calidad de los ovocitos seleccionados por el método de azul cresil brillante / Efeito da sazonalidade na qualidade dos ovócitos bovinos selecionados pelo método azul cresil brilhante

Abstract Background: The brilliant cresyl blue (BCB) staining is a non-invasive test to select the best-suited oocytes for embryonic development. This makes it a useful tool to select best-quality oocytes at the times of the year when there is forage restriction. Objective: To evaluate the effect of seasonality on the nuclear maturation and quality of oocytes selected by the BCB test. Methods: The cumulus-oophorus complexes (COCs) were obtained in summer and winter of 2010 and 2011. Selected COCs were maintained for 90 min at 38.5 °C in a CO2 incubator, in TCM 199 medium containing 10% fetal bovine serum and antibiotics, and supplemented with 26 µM brilliant cresyl blue. Afterwards, they were divided according to the ooplasm staining (BCB+ -blue; BCB− -unstained). Subsequently, COCs were matured for 22 h. Nuclear maturation was evaluated at 22 h of culture. Results: The proportion of BCB− oocytes was higher in the winter of 2010, but there was no increase in this group in the winter of 2011. The percentage of oocytes that reached metaphase II was higher in control and BCB+ groups in relation to oocytes from BCB− group. Conclusion: The season of the year influences the percentage of oocytes best suited for embryonic production in situations in which oocyte donors receive pasture-based feeding, since the method was effective in determining the effect of seasonality on the competence of bovine oocytes to reach nuclear maturation.

Resumen Antecedentes: La tinción con azul cresil brillante (BCB) es un método no invasivo para seleccionar ovocitos aptos para el desarrollo embrionario. Por tanto, es una herramienta útil para selecionar los ovocitos de mejor calidad en temporadas de restricción de forraje. Objetivo: Evaluar el efecto de la estacionalidad sobre la maduración nuclear y calidad de los ovocitos seleccionados por el test BCB. Métodos: Los complejos cumulus-oophorus (CCOs) fueron obtenidos durante el verano y el invierno de 2010 y 2011. Los CCOs seleccionados se mantuvieron durante 90 min a 38,5 oC en una incubadora de CO2 en un medio TCM 199 con 10% de suero fetal bovino y antibióticos, suplementado con 26 µM de azul cresil brillante. Luego se separaron según el color del citoplasma (BCB+ -azul y BCB− -incoloro). Posteriormente, los CCOs se maduraron durante 22 h. La evaluación de la maduración nuclear se realizó a las 22 h de cultivo. Resultados: La proporción de ovocitos BCB− fue mayor en el invierno de 2010, pero no hubo un aumento de ese grupo en el invierno de 2011. El porcentaje de ovocitos que alcanzaron la etapa de metafase II fue mayor en el grupo control y BCB+ con respecto al grupo BCB−. Conclusión: La estación del año influye en el porcentaje de ovocitos más aptos para la producción de embriones en situaciones donde las donadoras de ovocitos reciben alimentación a base de pastos, ya que este método fue eficaz para determinar el efecto de la estacionalidad en la competencia de ovocitos bovinos en alcanzar la maduración nuclear.

Resumo Antecedentes: O método do azul cresil brilhante (BCB) não é invasivo e seleciona ovócitos mais aptos ao desenvolvimento embrionário. Portanto é ferramenta útil para selecionar ovócitos de melhor qualidade em épocas do ano que ocorre restrição de pastagem. Objetivo: Avaliar o efeito da sazonalidade sobre a maturação nuclear e a qualidade dos ovócitos selecionados pelo teste BCB. Métodos: Os complexos cumulus oophorus (CCOs) foram obtidos no verão e inverno de 2010 e 2011. Os CCOs selecionados foram mantidos por 90 min, a 38,5 °C, em incubadora de CO2, em meio TCM 199 contendo 10% de soro fetal bovino e antibióticos, e suplementado com 26 µM de azul cresil brilhante. Em seguida, estes foram divididos de acordo com a coloração do citoplasma (BCB+ -azuis e BCB− -incolores). Então os CCOs foram maturados durante 22 h. A avaliação da maturação nuclear foi realizada às 22 h de cultivo. Resultados: A proporção dos ovócitos BCB− foi maior no inverno de 2010, mas não houve aumento desse grupo no inverno de 2011. O percentual de ovócitos que atingiu o estágio de metáfase II foi maior no controle e no grupo BCB+ em relação ao grupo BCB−. Conclusão: A estação do ano influencia o percentual de ovócitos mais aptos a produção de embriões, em situações onde as doadoras de ovócitos recebem alimentação baseada em pastagens, já que o método se mostrou efetivo para determinação do efeito da sazonalidade sobre a competência de ovócitos bovinos em atingirem a maturação nuclear.

Factores asociados a mortalidad a 30 días en pacientes mayores de 75 años llevados a cateterismo cardiaco / Factors associated to mortality at 30 days in patients over 75 years who underwent cardiac catheterization

Resumen La enfermedad coronaria es la principal causa de mortalidad en el mundo, y en tal sentido, la población anciana es la más afectada. Paralelo al creciente aumento de la población mayor de 75 años, se cuestiona la seguridad y eficacia de la intervención coronaria percutánea, en términos de morbi-mortalidad. Se plantea un estudio de corte transversal en mayores de 75 años, llevados a cateterismo cardiaco por infarto agudo de miocardio con o sin elevación del ST, angina inestable o fracción de eyección ventricular izquierda menor del 40%, en un centro especializado de Cardiología de Medellín-Colombia. Se estimó la incidencia acumulada de muerte a 30 días y se exploraron las variables relacionadas con la mortalidad. Resultados: Se analizaron 399 sujetos, con mediana de edad de 80 años (RIQ 6), de los cuales fallecieron 20 durante la hospitalización, y en total 24 murieron en los 30 días posteriores al cateterismo cardiaco, estimándose una mortalidad a 30 días del 6% (IC 95% 3,5-8,5). La mediana de estancia hospitalaria fue de 7 días (rango 0-64 días). Se encontró relación entre mortalidad y sexo femenino con una razón de prevalencia (RP) de 2,61 (p= 0,017), con infarto posterior a cateterismo cardiaco RP 9,77 (p < 0,001) y complicación mecánica durante el cateterismo RP 5,039 (p = 0,003). Además, una RP de 9,25 (p < 0,001) en los pacientes con infarto agudo de miocardio Killip III y IV. Los pacientes con un desenlace fatal tenían una presión sistólica de la arteria pulmonar (PSAP) mediana de 40 mm Hg y una fracción de eyección mediana del ventrículo izquierdo (FEVI) del 40%, mientras quienes no fallecieron tenían una PSAP mediana de 36 mm Hg y una FEVI mediana del 47%. Conclusiones: El cateterismo cardiaco y la intervención coronaria tienen una mortalidad relativamente baja en los primeros 30 días y comparable a sujetos de menor edad llevados a este procedimiento. Los factores asociados con aumento de la mortalidad fueron: puntaje de III - IV en la escala de Killip-Kimball, fracción de eyección disminuida, reinfarto durante la hospitalización, complicación mecánica durante el cateterismo cardiaco y género femenino. Estos resultados sugieren que la intervención coronaria percutánea puede ser un método seguro y eficaz en mayores de 75 años.

Abstract Coronary disease is the main cause of death in the world and, in that sense, elderly population are the most affected. Parallel to the growing increase in the population over 75 years, security and efficacy of the percutaneous coronary intervention is questioned in regards to its morbidity and mortality. A cross-sectional study was conducted with patients over 75 years who underwent cardiac catheterization due to acute myocardial infarction with or without ST elevation, unstable angina or left ventricular ejection fraction lower than 40%, in a specialized Cardiology Center in Medellín, Colombia, Cumulative incidence was estimated at 30 days and variables related to mortality were explored. Results: 399 individuals were analyzed, with an average age of 80 years (RIQ 6), out of whom 20 died during the hospitalization, and a total of 24 died during the 30 days after the cardiac catheterization, with an estimated mortality at 30 days of 6% (CI 95%, 3.5-8.5). The mean hospital stay was 7 days (range 0-64 days). A relationship between mortality and female gender was found with a prevalence rate (PR) of 2.61 (p = 0.017), with infarction posterior to cardiac catheterization PR 9.77 (p < 0.001) and mechanical complication during the catheterization PR 5.039 (p = 0.003). Also, a PR of 9.25 (p < 0.001) in patients with acute myocardial infarction Killip III and IV. Patients with fatal outcome had a mean pulmonary artery systolic pressure (PASP) of 40 mm Hg and a mean ejection fraction of the left ventricular ejection fraction (LVEF) of 40%, whereas those who survived had a mean PASP of 36 mm HG and a mean LVEF of 47%. Conclusion: Cardiac catheterization and coronary intervention have a relatively low mortality rate in the first 30 days and it is comparable to younger individuals who underwent this procedure. Factors associated to an increase in mortality were: score of III or IV in the Killip-Kimball scale, decreased ejection fraction, reinfarction during hospitalization, mechanical complication during cardiac catheterization and female gender. These results suggest that percutaneous coronary intervention can be a safe and efficient method in patients over 75 years of age.

Comprehensive chromosome screening and gene expression analysis from the same biopsy in human preimplantation embryos.

STUDY QUESTION: Can simultaneous comprehensive chromosome screening (CCS) and gene expression analysis be performed on the same biopsy of preimplantation human embryos? SUMMARY ANSWER: For the first time, CCS and reliable gene expression analysis have been performed on the same human preimplantation embryo biopsy. WHAT IS KNOWN ALREADY: A single trophectoderm (TE) biopsy is routinely used for many IVF programs offering CCS for selection of only chromosomally normal embryos for transfer. Although the gene expression profiling of human preimplantation embryos has been described, to date no protocol allows for simultaneous CCS and gene expression profiling from a single TE biopsy. STUDY DESIGN, SIZE AND DURATION: This is a proof of concept and validation study structured in two phases. In Phase 1, cell lines were subjected to a novel protocol for combined CCS and gene expression analysis so as to validate the accuracy and reliability of the proposed protocol. In Phase 2, 20 donated human blastocysts were biopsied and processed with the proposed protocol in order to obtain an accurate CCS result and characterize their gene expression profiles using the same starting material. PARTICIPANTS/MATERIALS, SETTING AND METHOD: A novel protocol coupling quantitative real-time PCR-based CCS and gene expression analysis using RT-PCR was designed for this study. Phase 1: six-cell aliquots of well-characterized fibroblast cell lines (GM00323, 46,XY and GM04435, 48,XY,+16,+21) were subjected to the proposed protocol. CCS results were compared with the known karyotypes for consistency, and gene expression levels were compared with levels of purified RNA from same cell lines for validation of reliable gene expression profiling. Phase 2: four biopsies were performed on 20 frozen human blastocysts previously diagnosed as trisomy 21 (10 embryos) and monosomy 21 (10 embryos) by CCS. All samples were processed with the proposed protocol and re-evaluated for concordance with the original CCS result. Their gene expression profiles were characterized and differential gene expression among embryos and early embryonic cell lineages was also evaluated. MAIN RESULTS AND THE ROLE OF CHANCE: CCS results from cell lines showed 100% consistency with their known karyotypes. ΔΔCt values of differential gene expression of four selected target genes from the cell lines GM4435 and GM0323 were comparable between six-cell aliquots and purified RNA (Collagen type I alpha-1 (COL1A1), P = 0.54; Fibroblast growth factor-5 (FGF5), P = 0.11; Laminin subunit beta-1 (LAMB1), P = 1.00 and Atlastin-1 (ATL1), P = 0.23). With respect to human blastocysts, 92% consistency was reported after comparing embryonic CCS results with previous diagnosis. A total of 30 genes from a human stem cell pluripotency panel were selected to evaluate gene expression in human embryos. Correlation coefficients of expression profiles from biopsies of the same embryo (r = 0.96 ± 0.03 (standard deviation), n = 45) were significantly higher than when biopsies from unrelated embryos were evaluated (r = 0.93 ± 0.03, n = 945) (P < 0.0001). Growth differentiation factor 3 (GDF3) was found to be significantly up-regulated in the inner cell mass (ICM), whereas Caudal type homebox protein-2 (CDX2), Laminin subunit alpha-1 (LAMA1) and DNA methyltransferase 3-beta (DNMT3B) showed down-regulation in ICM compared with TE. Trisomy 21 embryos showed significant up-regulation of markers of cell differentiation (Cadherin-5 (CDH5) and Laminin subunit gamma-1 (LAMC1)), whereas monosomy 21 blastocysts showed higher expression of genes reported to be expressed in undifferentiated cells (Gamma-Aminobutyric Acid Type-A Receptor Beta3 Subunit (GABRB3) and GDF3). LARGE SCALE DATA: N/A. LIMITATIONS, REASONS FOR CAUTION: Gene expression profiles of chromosomally normal embryos were not assessed due to restrictive access to euploid embryos for research. Nonetheless, the profile of blastocysts with single aneuploidies was characterized and compared. Only 30 target genes were analyzed for gene expression in this study. Increasing the number of target genes will provide a more comprehensive transcriptomic signature and reveal potential pathways paramount for embryonic competence and correct development. WIDER IMPLICATIONS OF THE FINDINGS: This is the first time that CCS and gene expression analysis have been performed on the same human preimplantation embryo biopsy. Further optimization of this protocol with other CCS platforms and inclusion of more target genes will provide innumerable research and clinical applications, such as discovery of biomarkers for embryonic reproductive potential and characterization of the transcriptomic signatures of embryos, potentially allowing for further embryo selection prior to embryo transfer and therefore improving outcomes. STUDY FUNDING AND COMPETING INTERESTS: This study was funded by the Foundation for Embryonic Competence, Basking Ridge, NJ, USA. No conflicts of interests declared.