Cytogenomic characterization of small supernumerary marker chromosomes in patients with pigmentary mosaicism.

Introduction: The combination of gene content on the marker chromosome, chromosomal origin, level of mosaicism, origin mechanism (chromothripsis), and uniparental disomy can influence the final characterization of sSMCs. Several chromosomal aberrations, including sSMCs, have been observed in 30%-60% of patients with pigmentary mosaicism, and in more than 80%, chromosomal abnormalities are present in the mosaic state. In patients with pigmentary mosaicism the most representative chromosomes involved in sSMCs are 3, 5, 6, 9, 10, 13, 15, 18, 20, and X. In this study, we included the complete clinical, cytogenetic, and molecular characterization of seven patients with pigmentary mosaicism associated with the presence of SMCs of different chromosomal origins. Methods: The patients were diagnosed by the Genetics and Dermatology Department of three different hospitals. Cytogenetic and FISH analyses were performed on peripheral blood, light skin, and dark skin. FISH analysis was performed using different probes, depending on the marker chromosome description. Different array analysis was performed. Results: To date, of the seven cases studied, the chromosomal origins of six were successfully identified by FISH or array analysis. The chromosomes involved in SMCs were 6, 9, 15, and 18, X. The most frequently found was the centric minute structure. Discussion: To date, this group of seven patients constitutes the largest clinical and cytogenetically finely described study of cases with pigmentary mosaicism associated with sSMCs. Undoubtedly, analysis of the two skin types is a fundamental part of our study, as numerical differences may occur in the cell lines found in each skin type. The knowledge generated in this study will help delineate a very heterogeneous entity more accurately, and in the future, analyzing more patients with PM will likely establish a more definite association with the presence of this genetic alteration.

Impact of COVID-19 Pandemic on Cutaneous Squamous Cell Carcinoma: A Single-Centre Study of Epidemiologic, Clinic and Histopathological Factors / Impacto de la pandemia de COVID-19 en el carcinoma de células escamosas cutáneo: un estudio unicéntrico de los factores epidemiológicos, clínicos e histopatológicos

Background: The COVID-19 pandemic may have adversely affected the early diagnosis of skin cancer. Objective To compare epidemiological, clinical and histopathological characteristics in patients undergoing cutaneous squamous cell carcinoma (SCC) surgery before and after the beginning of the pandemic. Material & methods: We conducted a cross-sectional study including two case series: (1) patients operated on for SCC in the year after the first state of alarm in Spain (15 March 2020), and (2) patients with SCC operated on in the previous year. Epidemiological, clinical and histopathological variables, tumour stage and risk grade were collected. Results: 248 patients were included (127 undergoing surgery before the pandemic and 121 after the pandemic). After the beginning of the pandemic, the percentage of high-risk SCC significantly increased from 35.3% to 46.2% (p=0.011). However, no significant differences were found in thickness, perineural invasion or metastases. Conclusions: Although there has not been a significant reduction in the number of SCC operated on after the pandemic, there has been a significant increase in high-risk SCC. All this could lead to an increase in skin cancer mortality in the future. (AU)

Antecedentes: La pandemia de COVID-19 ha podido afectar negativamente el diagnóstico precoz del cáncer de piel. Objetivo Comparar las características epidemiológicas, clínicas e histopatológicas en los pacientes intervenidos de carcinoma de células escamosas (CCE) cutáneo antes de la pandemia y después del inicio de la pandemia. Material y métodos: Se diseñó un estudio transversal que incluía 2 series de pacientes: 1) pacientes intervenidos de CCE el año posterior a la declaración del confinamiento general en España (15 de marzo de 2020), y 2) pacientes intervenidos de CCE el año previo. Se recogieron variables epidemiológicas, clínicas e histopatológicas, así como el estadio tumoral y el grado de riesgo. Resultados: Se incluyeron 248 pacientes (127 intervenidos antes de la pandemia y 121 intervenidos después de la pandemia). Tras el inicio de la pandemia, el porcentaje de CCE de alto riesgo aumentó significativamente de 32,3 a 45,5% (p=0,011). No obstante, no se encontraron diferencias significativas en el grosor tumoral, la invasión perineural o la presencia de metástasis. Conclusiones: Aunque no se produjo una reducción significativa en el número de CCE intervenidos después de la pandemia, ha habido un incremento significativo en los CCE de alto riesgo. Todo ello puede conllevar un incremento en la mortalidad por cáncer de piel en el futuro. (AU)

[Artículo traducido] Impacto de la pandemia COVID-19 en el carcinoma de células escamosas cutáneo: un estudio unicéntrico de los factores epidemiológicos, clínicos e histopatológicos / Impact of COVID-19 Pandemic on Cutaneous Squamous Cell Carcinoma: A Single-Centre Study of Epidemiologic, Clinic and Histopathological Factors

Antecedentes: La pandemia de COVID-19ha podido afectar negativamente el diagnóstico precoz del cáncer de piel. Objetivo Comparar las características epidemiológicas, clínicas e histopatológicas en los pacientes intervenidos de carcinoma de células escamosas (CCE) cutáneo antes de la pandemia y después del inicio de la pandemia. Material y métodos: Se diseñó un estudio transversal que incluía 2 series de pacientes: 1) pacientes intervenidos de CCE el año posterior a la declaración del confinamiento general en España (15 de marzo de 2020), y 2) pacientes intervenidos de CCE el año previo. Se recogieron variables epidemiológicas, clínicas e histopatológicas, así como el estadio tumoral y el grado de riesgo. Resultados: Se incluyeron 248 pacientes (127 intervenidos antes de la pandemia y 121 intervenidos después de la pandemia). Tras el inicio de la pandemia, el porcentaje de CCE de alto riesgo aumentó significativamente de 32,3 a 45,5% (p=0,011). No obstante, no se encontraron diferencias significativas en el grosor tumoral, la invasión perineural o la presencia de metástasis. Conclusiones: Aunque no se produjo una reducción significativa en el número de CCE intervenidos después de la pandemia, ha habido un incremento significativo en los CCE de alto riesgo. Todo ello puede conllevar un incremento en la mortalidad por cáncer de piel en el futuro. (AU)

Background: The COVID-19 pandemic may have adversely affected the early diagnosis of skin cancer. Objective To compare epidemiological, clinical and histopathological characteristics in patients undergoing cutaneous squamous cell carcinoma (SCC) surgery before and after the beginning of the pandemic. Material & methods: We conducted a cross-sectional study including two case series: (1) patients operated on for SCC in the year after the first state of alarm in Spain (15 March 2020), and (2) patients with SCC operated on in the previous year. Epidemiological, clinical and histopathological variables, tumour stage and risk grade were collected. Results: 248 patients were included (127 undergoing surgery before the pandemic and 121 after the pandemic). After the beginning of the pandemic, the percentage of high-risk SCC significantly increased from 35.3% to 46.2% (p=0.011). However, no significant differences were found in thickness, perineural invasion or metastases. Conclusions: Although there has not been a significant reduction in the number of SCC operated on after the pandemic, there has been a significant increase in high-risk SCC. All this could lead to an increase in skin cancer mortality in the future. (AU)

Impact of COVID-19 Pandemic on Cutaneous Squamous Cell Carcinoma: A Single-Centre Study of Epidemiologic, Clinic and Histopathological Factors. / [Artículo traducido] Impacto de la pandemia COVID-19 en el carcinoma de células escamosas cutáneo: un estudio unicéntrico de los factores epidemiológicos, clínicos e histopatológicos.

BACKGROUND: The COVID-19 pandemic may have adversely affected the early diagnosis of skin cancer. OBJECTIVE: To compare epidemiological, clinical and histopathological characteristics in patients undergoing cutaneous squamous cell carcinoma (SCC) surgery before and after the beginning of the pandemic. MATERIAL & METHODS: We conducted a cross-sectional study including two case series: (1) patients operated on for SCC in the year after the first state of alarm in Spain (15 March 2020), and (2) patients with SCC operated on in the previous year. Epidemiological, clinical and histopathological variables, tumour stage and risk grade were collected. RESULTS: 248 patients were included (127 undergoing surgery before the pandemic and 121 after the pandemic). After the beginning of the pandemic, the percentage of high-risk SCC significantly increased from 35.3% to 46.2% (p=0.011). However, no significant differences were found in thickness, perineural invasion or metastases. CONCLUSIONS: Although there has not been a significant reduction in the number of SCC operated on after the pandemic, there has been a significant increase in high-risk SCC. All this could lead to an increase in skin cancer mortality in the future.

Impact of COVID-19 Pandemic on Cutaneous Squamous Cell Carcinoma: A Single-Centre Study of Epidemiologic, Clinic and Histopathological Factors.

BACKGROUND: The COVID-19 pandemic may have adversely affected the early diagnosis of skin cancer. OBJECTIVE: To compare epidemiological, clinical and histopathological characteristics in patients undergoing cutaneous squamous cell carcinoma (SCC) surgery before and after the beginning of the pandemic. MATERIAL & METHODS: We conducted a cross-sectional study including two case series: (1) patients operated on for SCC in the year after the first state of alarm in Spain (15 March 2020), and (2) patients with SCC operated on in the previous year. Epidemiological, clinical and histopathological variables, tumour stage and risk grade were collected. RESULTS: 248 patients were included (127 undergoing surgery before the pandemic and 121 after the pandemic). After the beginning of the pandemic, the percentage of high-risk SCC significantly increased from 35.3% to 46.2% (p=0.011). However, no significant differences were found in thickness, perineural invasion or metastases. CONCLUSIONS: Although there has not been a significant reduction in the number of SCC operated on after the pandemic, there has been a significant increase in high-risk SCC. All this could lead to an increase in skin cancer mortality in the future.

Effects of bisphenol F, bisphenol S, and bisphenol AF on cultured human osteoblasts.

Bisphenol A (BPA) analogs, like BPA, could have adverse effects on human health including bone health. The aim was to determine the effect of BPF, BPS and BPAF on the growth and differentiation of cultured human osteoblasts. Osteoblasts primary culture from bone chips harvested during routine dental work and treated with BPF, BPS, or BPAF for 24 h at doses of 10-5, 10-6, and 10-7 M. Next, cell proliferation was studied, apoptosis induction, and alkaline phosphatase (ALP) activity. In addition, mineralization was evaluated at 7, 14, and 21 days of cell culture in an osteogenic medium supplemented with BP analog at the studied doses. BPS treatment inhibited proliferation in a dose-dependent manner at all three doses by inducing apoptosis; BPF exerted a significant inhibitory effect on cell proliferation at the highest dose alone by an increase of apoptosis; while BPAF had no effect on proliferation or cell viability. Cell differentiation was adversely affected by treatment with BPA analogs in a dose-dependent, observing a reduction in calcium nodule formation at 21 days. According to the results obtained, these BPA analogs could potentially pose a threat to bone health, depending on their concentration in the organism.

Structure-preserving Gaussian denoising of FIB-SEM volumes.

FIB-SEM (Focused Ion Beam-Scanning Electron Microscopy) is an imaging technique that allows 3D ultrastructural analysis of cells and tissues at the nanoscale. The acquired FIB-SEM data are highly noisy, which makes denoising an essential step prior to volume interpretation. Gaussian filtering is a standard method in the field because it is fast and straightforward. However, it tends to blur the biological features due to its linear nature that ignores the rapid changes of the structures throughout the volume. To address this issue, we have developed a new approach to structure-preserving noise reduction for FIB-SEM. It has abilities to locally adapt the filtering to the biological structures while taking advantage of the simplicity of Gaussian filtering. It uses the Optical Flow (OF) to estimate the variations of the structural features across the volume, so that they are compensated before the subsequent filtering with a Gaussian function. As demonstrated qualitatively and objectively with datasets from different samples and acquired under different conditions, our denoising approach outperforms the standard Gaussian filtering and is competitive with state-of-the-art methods in terms of noise reduction and preservation of the sharpness of the structures.

Pigmentary mosaicism as a recurrent clinical manifestation in three new patients with mosaic trisomy 12 diagnosed postnatally: cases report and literature review.

BACKGROUND: To date, only twenty-one cases diagnosed postnatally with mosaic trisomy 12 have been reported. The most frequent phenotypic manifestations are developmental delay, dysmorphic facial features, congenital heart defects, digital alterations, and pigmentary disorders. In the present report, detailed clinical and genetic profiles of three unrelated new patients with mosaic trisomy 12 are described and compared with previously reported cases. CASE PRESENTATION: In the present report, we include the clinical, cytogenetic, and molecular description of three Mexican patients diagnosed postnatally with mosaic trisomy 12. At phenotypic level, the three patients present with developmental delay, dysmorphic facial features, congenital heart defects and skin pigmentary anomalies. Particularly, patient 1 showed unique eye alterations as bilateral distichiasis, triple rows of upper lashes, and digital abnormalities. In patient 2 redundant skin, severe hearing loss, and hypotonia were observed, and patient 3 presented with hypertelorism and telecanthus. Hyperpigmentation with disseminated pigmentary anomalies is a common trait in all of them. The cytogenetic study was carried out under the strict criteria of analysis, screening 50-100 metaphases from three different tissues, showing trisomy 12 mosaicism in at least one of the three different tissues analyzed. With SNParray, the presence of low-level mosaic copy number variants not previously detected by cytogenetics, and uniparental disomy of chromosome 12, was excluded. STR markers allowed to confirm the absence of uniparental disomy as well as to know the parental origin of supernumerary chromosome 12. CONCLUSIONS: The detailed clinical, cytogenetic, and molecular description of these three new patients, contributes with relevant information to delineate more accurately a group of patients that show a heterogeneous phenotype, although sharing the same chromosomal alteration. The possibility of detecting mosaic trisomy 12 is directly associated with the sensitivity of the methodology applied to reveal the low-level chromosomal mosaicism, as well as with the possibility to perform the analysis in a suitable tissue.

Botulismo alimentario durante la pandemia por el SARS-CoV-2. Descripción de un caso y de un posible brote familiar en Barcelona / Food borne-botulism during SARS-CoV-2 pandemic time. A case and a possible familial outbreak in Barcelona

Introducción. El botulismo es un síndrome neuroparalítico hoy en día infrecuente, potencialmente fatal, causado por neurotoxinas de Clostridium botulinum. El origen es alimentario en el 25% de los casos. Caso clínico. Describimos el caso confirmado de botulismo alimentario en una paciente atendida en nuestro hospital en septiembre de 2020 y la sospecha de un segundo caso en un familiar de la paciente, no confirmado éste por las pruebas de laboratorio. La instauración en pocos días de una afectación bilateral de pares craneales, incluyendo disfagia, disnea y disartria, junto con midriasis y tetraparesia graves, precedida de diarrea, constituyó la presentación clínica en el primer caso; mientras que en su familiar cursó con síntomas inespecíficos y transitorios. Constatamos disautonomía consistente en hipotensión arterial en ambos casos. Teniendo en cuenta la situación pandémica en aquel momento, se descartó repetidamente la infección por SARS-CoV-2 antes de plantear alternativas diagnósticas. La neurotoxina B de C. botulinum fue detectada en las heces de la paciente, confirmando el diagnóstico de botulismo, que relacionamos con la ingesta de una conserva casera de alubias. Se completó el diagnóstico diferencial del cuadro descartando otras posibles etiologías. Conclusión. La sospecha clínica temprana, confirmada con los hallazgos de laboratorio y neurofisiológicos y que llevaron al manejo específico de la paciente, fueron cruciales para la evolución favorable. No fue necesario aplicar medidas de salud pública, a excepción de la notificación a sus allegados de la contaminación detectada. Conocer la existencia de esta patología puede contribuir a su pronóstico.(AU)

Introduction. Botulism is a potentially fatal neuroparalytic syndrome caused by Clostridium botulinum neurotoxin. The 25% are food-borne botulism cases. Case report. We describe a confirmed case of botulism attended in our hospital in September 2020, together with a second case in a patient’s relative, suspected but not confirmed by laboratory tests. Clinical presentation consisted on general weakness, bilateral cranial palsy, mydriasis, and rapidly progressive tetraparesis in case 1, involving respiratory and swallowing function so she required hospitalization and support treatment. Non specific and transient symptoms occurred in case 2. SARS-CoV-2 infection was initially suspected in both cases due to pandemic situation in our country, ruled out by negative PCR. When B neurotoxin was detected in stool sample of patient 1 we confirmed the diagnosis of food-borne botulism probably linked to home-made conserved beans. Conclusion. Early clinical suspicion, together with laboratory and electromyography findings, and support treatment provided at hospital were crucial for favourable outcome. Being aware of this rare syndrom might contribute to its better management.(AU)

Food borne-botulism during SARS-CoV-2 pandemic time. A case and a possible familial outbreak in Barcelona. / Botulismo alimentario durante la pandemia por el SARS-CoV-2. Descripción de un caso y de un posible brote familiar en Barcelona.

INTRODUCTION: Botulism is a potentially fatal neuroparalytic syndrome caused by Clostridium botulinum neurotoxin. The 25% are food-borne botulism cases. CASE REPORT: We describe a confirmed case of botulism attended in our hospital in September 2020, together with a second case in a patient's relative, suspected but not confirmed by laboratory tests. Clinical presentation consisted on general weakness, bilateral cranial palsy, mydriasis, and rapidly progressive tetraparesis in case 1, involving respiratory and swallowing function so she required hospitalization and support treatment. Non specific and transient symptoms occurred in case 2. SARS-CoV-2 infection was initially suspected in both cases due to pandemic situation in our country, ruled out by negative PCR. When B neurotoxin was detected in stool sample of patient 1 we confirmed the diagnosis of food-borne botulism probably linked to home-made conserved beans. CONCLUSION: Early clinical suspicion, together with laboratory and electromyography findings, and support treatment provided at hospital were crucial for favourable outcome. Being aware of this rare syndrom might contribute to its better management.

TITLE: Botulismo alimentario durante la pandemia por el SARS-CoV-2. Descripción de un caso y de un posible brote familiar en Barcelona.Introducción. El botulismo es un síndrome neuroparalítico hoy en día infrecuente, potencialmente fatal, causado por neurotoxinas de Clostridium botulinum. El origen es alimentario en el 25% de los casos. Caso clínico. Describimos el caso confirmado de botulismo alimentario en una paciente atendida en nuestro hospital en septiembre de 2020 y la sospecha de un segundo caso en un familiar de la paciente, no confirmado éste por las pruebas de laboratorio. La instauración en pocos días de una afectación bilateral de pares craneales, incluyendo disfagia, disnea y disartria, junto con midriasis y tetraparesia graves, precedida de diarrea, constituyó la presentación clínica en el primer caso; mientras que en su familiar cursó con síntomas inespecíficos y transitorios. Constatamos disautonomía consistente en hipotensión arterial en ambos casos. Teniendo en cuenta la situación pandémica en aquel momento, se descartó repetidamente la infección por SARS-CoV-2 antes de plantear alternativas diagnósticas. La neurotoxina B de C. botulinum fue detectada en las heces de la paciente, confirmando el diagnóstico de botulismo, que relacionamos con la ingesta de una conserva casera de alubias. Se completó el diagnóstico diferencial del cuadro descartando otras posibles etiologías. Conclusión. La sospecha clínica temprana, confirmada con los hallazgos de laboratorio y neurofisiológicos y que llevaron al manejo específico de la paciente, fueron cruciales para la evolución favorable. No fue necesario aplicar medidas de salud pública, a excepción de la notificación a sus allegados de la contaminación detectada. Conocer la existencia de esta patología puede contribuir a su pronóstico.

Optical flow driven interpolation for isotropic FIB-SEM reconstructions.

BACKGROUND AND OBJECTIVE: Focused Ion Beam - Scanning Electron Microscopy (FIB-SEM) allows three-dimensional ultrastructural analysis of cells and tissues at the nanoscale. The technique iteratively removes a section of the sample with a FIB and takes an SEM image from the exposed surface. The section thickness is usually higher than the image pixel size to reduce acquisition time, thus resulting in anisotropic resolution. In this work, we explore novel interpolation methods along the sectioning direction to produce isotropic resolution and facilitate proper interpretation of the FIB-SEM 3D volumes. METHODS: Classical interpolation methods are usually applied in this context under the assumption that the changes through successive images are relatively smooth. However, the actual 3D arrangement of the structures in the sample may cause significant changes in the biological features between consecutive images of the FIB-SEM stacks. We have developed a novel interpolation strategy that accounts for this variation by using the Optical Flow (OF) to estimate it. As an intermediate stage, OF-compensated images are produced by aligning the spatial regions of the biological structures. Interpolated images are then generated from these OF-compensated images. The final isotropic stack is assembled by interleaving the interpolated images with the original images of the anisotropic stack. RESULTS: OF-driven and classical interpolation methods were compared using an objective assessment based on Pearson Correlation Coefficient (PCC) and a qualitative evaluation based on visual results, using public datasets and representative anisotropy conditions. The objective assessment demonstrated that the OF-driven interpolation always yields higher PCC values, with interpolated images closer to the ground truth. The qualitative evaluation corroborated those results and confirmed that classical interpolation may blur areas with substantial changes between consecutive images whereas OF-driven interpolation provides sharpness. CONCLUSIONS: We have developed an OF-driven interpolation approach to generating FIB-SEM stacks with isotropic resolution from experimental anisotropic data. It adapts to the rapid variation of the biological structures observed through the images of the FIB-SEM stack. Our approach outperforms classical interpolation and manages to produce sharp interpolated views in cases where there are significant changes between consecutive experimental images.

Geobacillus stearothermophilus STCC4517 spore suspensions showed survival curves with shoulder phenomena independent of sporulation temperature and pH, whose duration was an exponential function of treatment temperature.

Deviations in linearity in survival curves are common in inactivation kinetics during heat treatment. These might lead one to underestimate how effective thermal treatment is. In previous research we reported a relationship between decimal reduction time values (DT) and shoulder lengths (Sl) of survival curves which was characteristic of each microorganism. However, the impact of other factors such as sporulation temperature and pH of the treatment media on shoulder length is still not known. The objective of this research was to evaluate the effect of sporulation temperature (45, 55 and 65 °C) and pH (4.0, 5.0, 6.0 and 7.0) treatment has on the profile of survival curves and on the relationship between Sl/DT of G. stearothermophilus STCC 4517. The results obtained demonstrated that all the spore suspensions, independently of sporulation temperature and pH, showed survival curves with shoulder phenomena, whose duration was an exponential function of treatment temperature. Although both parameters had a significant effect on heat resistance, the relationship between the shoulder length and DT values was constant at all pHs for spores produced at the optimum sporulation temperature.

Long-term impact of the 2008 economic crisis in Spain on road traffic collisions mortality by socioeconomic position.

We aimed to assess the effect of the 2008 crisis on road traffic collision (RTC) mortality in Spain, by socioeconomic position (SEP) and type of road use. This prospective, country-wide study covered all adults living in Spain and aged ≥30 years in November 2001. The long-term effect of the crisis was assessed by measuring the monthly percentage change (MPC) in RTC mortality between the pre-crisis (2002-2007) and crisis period (2008-2011). During the recession, RTC mortality fell more in people with low compared to high SEP, so MPCs difference between periods were of a higher magnitude in the low compared to high SEP groups, especially among men motorcyclists. RTC mortality trends were favorable following the 2008 crisis, particularly among low-SEP groups. In men motorcyclists, the upward trend of the pre-crisis period reversed course.

Factores asociados a mortalidad intrahospitalaria en pacientes adultos mayores con asistencia ventilatoria mecánica invasiva en el servicio de urgencias / In-hospital mortality associated factors in elderly patients with invasive mechanical ventilation in the emergency department

Objetivos Identificar los factores asociados a mortalidad intrahospitalaria, estimar la tasa de intubación y describir la mortalidad intrahospitalaria de mayores de 65 años que requirieron ventilación mecánica invasiva (VMI) en el servicio de urgencias. Métodos Estudio de cohorte retrospectiva con pacientes mayores de 65 años, intubados en la central de emergencias del adulto entre 2016 y 2018 en un hospital de alta complejidad. Se consignaron datos demográficos, comorbilidades y scores de severidad al ingreso. Se realizaron análisis bivariado y multivariado con regresión logística en relación a mortalidad hospitalaria y posibles confundidores. Resultados Un total de 285 pacientes con media de 80 años requirieron VMI en urgencias durante una mediana de 3 días, y con media de 20 puntos de severidad según APACHE II. La tasa de VMI resultó 0,48% (IC95% 0,43-0,54), y 55,44% (158) fallecieron. Los factores asociados a mortalidad tras el ajuste por edad y sexo fueron: accidente cerebrovascular (OR 2,13; IC95%1,21-3,76), insuficiencia renal crónica (OR 4,38; IC95%1,91-10,04), índice de Charlson (OR 1,19; IC95%1,02-1,38), APACHE II (OR 1,07; IC95%1,02-1,12) y SOFA (OR 1,14; IC95%1,03-1,27). Discusión Nuestra tasa de VMI fue inferior a la declarada por Johnson et al. en Estados Unidos en 2018 (0,59%). La mortalidad intrahospitalaria de nuestro estudio superó la predicha por el score de APACHE II (40%) y de SOFA (33%), sin embargo fue consistente con la reportada por Lieberman et al. en Israel y Esteban et al. en Estados Unidos. Conclusiones Si bien la tasa de requerimiento de VMI en el servicio de emergencias fue baja, más de la mitad fallecieron durante su hospitalización. Las enfermedades cerebrovasculares y renales preexistentes y los altos puntajes en el índice de comorbilidades y en los scores de gravedad al ingreso fueron predictores independientes para mortalidad intrahospitalaria. (AU)

Aims To identify factors associated with in-hospital mortality, to estimate the intubation rate and to describe in-hospital mortality in patients over 65 years old with invasive mechanical ventilation (IMV) in the emergency department (ED). Methods Retrospective cohort study of patients over 65 years old, who were intubated in an ED of a high complexity hospital between 2016 and 2018. Demographic data, comorbidities, and severity scores on admission were described. Bivariate and multivariate analyses were performed with logistic regression according to mortality and possible confounders. Results A total of 285 patients with a mean age of 80 years required IMV in the emergency department, for a median of 3 days, and with a mean APACHE II score of 20 points of severity. The IMV rate was .48% (95% CI .43-.54), and 55.44% (158) died. Mortality-associated factors after age and sex adjustment were stroke (OR 2.13; 95%CI 1.21-3.76), chronic kidney failure, (OR 4.,38; 95%CI 1.91-10.04), Charlson index (OR 1.19; 95%CI 1.02-1.38), APACHE II score (OR 1.07; 95%CI 1.02-1.12), and SOFA score (OR 1.14; 95%CI 1.03-1.27). Discussion Our IMV rate was lower than that stated by Johnson et al. in the United States in 2018 (.59%). In-hospital mortality in our study exceeded that predicted by the APACHE II score (40%) and SOFA (33%). However it was consistent with that reported by Lieberman et al. in Israel and Esteban et al. in the United States. Conclusions Although the IMV rate was low in the ED, more than half the patients died during hospitalization. Pre-existing cerebrovascular and renal diseases and high results in the comorbidities index and severity scores on admission were independent factors associated with in-hospital mortality. (AU)

In-hospital mortality associated factors in elderly patients with invasive mechanical ventilation in the emergency department.

AIMS: To identify factors associated with in-hospital mortality, to estimate the intubation rate and to describe in-hospital mortality in patients over 65 years old with invasive mechanical ventilation (IMV) in the emergency department (ED). METHODS: Retrospective cohort study of patients over 65 years old, who were intubated in an ED of a high complexity hospital between 2016 and 2018. Demographic data, comorbidities, and severity scores on admission were described. Bivariate and multivariate analyses were performed with logistic regression according to mortality and possible confounders. RESULTS: A total of 285 patients with a mean age of 80 years required IMV in the emergency department, for a median of 3 days, and with a mean APACHE II score of 20 points of severity. The IMV rate was .48% (95% CI .43-.54), and 55.44% (158) died. Mortality-associated factors after age and sex adjustment were stroke (OR 2.13; 95% CI 1.21-3.76), chronic kidney failure, (OR 4.,38; 95% CI 1.91-10.04), Charlson index (OR 1.19; 95% CI 1.02-1.38), APACHE II score (OR 1.07; 95% CI 1.02-1.12), and SOFA score (OR 1.14; 95% CI 1.03-1.27). DISCUSSION: Our IMV rate was lower than that stated by Johnson et al. in the United States in 2018 (.59%). In-hospital mortality in our study exceeded that predicted by the APACHE II score (40%) and SOFA (33%). However it was consistent with that reported by Lieberman et al. in Israel and Esteban et al. in the United States. CONCLUSIONS: Although the IMV rate was low in the ED, more than half the patients died during hospitalization. Pre-existing cerebrovascular and renal diseases and high results in the comorbidities index and severity scores on admission were independent factors associated with in-hospital mortality.

Tasas de embarazo y nacido vivo en mujeres jóvenes infértiles con baja reserva ovárica / Pregnancy and live birth rates in young women with diminished ovarian reserve

Introducción:En pacientes infértiles menores de 40 años con disminución de la reserva ovárica, los resultados de técnicas de reproducción asistida son desfavorables comparados con aquellas de la misma edad con reserva ovárica normal. Objetivo: Investigar las tasas de embarazo y nacido vivo en pacientes infértiles menores de 40 años con disminución de la reserva ovárica. Materiales y métodos: Estudio observacional, descriptivo, retrospectivo, en el cual se revisaron fichas de pacientes menores de 40 años con valores de hormona antimulleriana (HAM) menores a 1,1 ng/dL y recuento de folículos de ≤7, que fueron sometidas a fertilización in vitro, con embriones transferidos en días 3 y 5. Se analizaron número de ovocitos recuperados, número de ovocitos M2, número de ovocitos fertilizados, tasas de embarazo clínico, y de recién nacido vivo. Resultados: Se incluyeron45 pacientes, 51% entre 35 y 39 años de edad. El promedio de HAM fue de 0,59 ng/dL, y el de recuento de folículos antrales 4,73 y de ovocitos recuperados 4,4. Las tasas de embarazo clínico y de recién nacido vivo no arrojaron diferenciassignificativas cuando se compararon con el resultado clínico, excepto cuando se compararon los embriones transferidos en día 5 (33%) con el día 3 (21,8%) (p<0,0001). Se observó una correlación significativa entre los valores de HAM y el número de folículos (p=0,0034), y número de ovocitos recuperados (p=0,0159). Conclusiones: En pacientes jóvenes infértiles con disminución de la reserva ovárica, las tasas de embarazo clínico aumentan significativamente al transferir embriones en el día 5.

Introduction:Results of assisted reproductive techniques are unfavorable in infertile patients under 40 years of age with decreased ovarian reserve, as compared to those of the same age with normal ovarian reserve. Aim.To investigate the pregnancy and live birth rates in infertile young patients with diminished ovarian reserve. Materials & methods.Retrospective and descriptive study of women less than 40 years old, undergoing in vitrofertilization, with embryos transferred on days 3 and 5, with anti-mullerian hormone (AMH) values of less than 1,1 ng/ml) and antral follicle count (AFC) of 7 or less. Results.A total of 45 patients were included, 51% between 35 to 39 years old. The mean AMH value was 0.59 ng/dL, the mean AFC was 4.73 folliclesand oocyte retrieval, a mean of 4.4. Theclinical pregnancy rate and live birth rates did not yield statistically significant results when compared to each clinical outcome, except when compared embryos transferred on day 3 with day 5 (p<0.0001). A significant correlation was found between levels of AMH and number of follicles (p=0.0034) as well as number of retrieved oocytes (p=0.0159). Conclusions.In young patients with diminished ovarian reserve undergoing in vitro fertilization cycles, clinical pregnancy rates significantly increase when embryos are transferred on day 5.

UPD(14)mat and UPD(14)mat in concomitance with mosaic small supernumerary marker chromosome 14 in two new patients with Temple syndrome.

Temple syndrome (TS14) can be originated by maternal uniparental disomy (UPD(14)mat), paternal deletion, or epimutation, leading to disturbances in 14q32.2 imprinted region. The most frequent phenotypic manifestations are prenatal and postnatal growth failure, hypotonia, developmental delay, small hands/feet, precocious puberty, and truncal obesity. However, the diagnosis can be challenging due to the clinical overlap with other imprinting disorders such as Silver-Russell or Prader-Willi syndromes. Although rare, TS14 has been also reported in patients with concomitant UPD(14)mat and mosaic trisomy 14. In the present report, the clinical and genetic profiles of two new patients with TS14 are described. SNParray and MS-MLPA, allowed the determination of segmental UPD(14)mat and the hypomethylation of MEG3 gene. Additionally, in one of our patients we also observed by cytogenetics a small supernumerary marker chromosome that led to partial trisomy 14 in mosaic. Only few patients with concomitant UPD(14)mat and mosaic partial trisomy 14 have been reported. Our patients share cardinal TS14 phenotypic features that are associated to the genetic abnormalities detected; however, we also observed some clinical features such as fatty liver disease that had not previously been reported as part of this syndrome. The detailed clinical, cytogenetical and molecular description of these two new patients, contributes to a more accurately delineation of this syndrome.

Impact of shoulders on the calculus of heat sterilization treatments with different bacterial spores.

To date, heat is still the most used technology in food preservation. The calculus of heat treatments is usually based on Bigelow observations i.e. treatment time is an exponential function of the heat treatment temperature. However, a number of researchers have reported deviations from linearity in heat inactivation curves that caused errors in the calculus. This research was designed to evaluate the variability of shoulder length among different sporulated species, the impact of treatment temperature on these shoulders and the relationship between the traditional DT value and shoulder length. The heat inactivation kinetics of five bacterial spores of importance for the food industry was evaluated. B. weihenstephanensis and B. cereus did not show shoulders and DT values calculated ranged from 0.99 to 0.23 and from 1.33 to 0.56 respectively at temperatures from 100 to 102.5 °C. On the other side B. subtilis, B. licheniformis and G. stearothermophilus showed shoulders of 1.75-0.42, 1.92-0.43 and 3.22-0.78 and DT values of 1.52-0.32, 2.12-0.59 and 2.22-0.48 respectively in the range of temperatures tested. From the results obtained it was concluded that the presence and magnitude of shoulders depended on the bacterial spore species, the longest being those on the bacterial spores which showed greatest heat resistance. It has also been proved that shoulder lengths vary with treatment temperature in the same proportion of traditional DT values, with the relationship Sl/DT being constant. Thus, an equation which included the constant Sl/DT was proposed.

Stimulation of brown adipose tissue by polyphenols in extra virgin olive oil.

Obesity is one of the main public health problems of the 21st century resulting from an imbalance between calorie intake and energy expenditure. Currently, the search for new treatments against this pathology has become a priority. One of the therapeutic strategies against obesity could be the activation of brown adipose tissue through different molecules such as the phenolic compounds of extra virgin olive oil (EVOO). The objective of this review was to provide an update of scientific knowledge on the relationship between EVOO phenolic compounds and brown adipose tissue.According to this review, it has been demonstrated that extra virgin olive oil phenolic compounds can have beneficial effects on obesity by activating brown adipose tissue and enhance thermogenesis through different signaling pathways mediated by molecules such as AMP-activated protein kinase (AMPK), peroxisome proliferator-activated receptor γ coactivator-1α (PGC1α) or sirtuin 1 (Sirt1).