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Bladder embryonal rhabdomyosarcomas (ERMS) are malignant soft tissue tumors that rarely present in the perinatal period. Herein, we report 2 cases that were diagnosed in the newborn period (one with concomitant posterior urethral valves [PUV]), managed with chemotherapy and surgical resection to minimize the need for radiation.
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Housing is a pressing problem worldwide and a key determinant of health and wellbeing. The right to adequate housing, as a pillar of the right to an adequate standard of living, means more than a roof to live under. Adequate means the dwelling must fulfill material functions and psychosocial functions, thus contributing to dwellers health and wellbeing. Social housing policies aim to fulfill the right to housing, but frequently fail in fulfilling the right to it being adequate. This study capitalizes on the implementation of a national urban regeneration program in two social housing villas in central Chile (one in Santiago, in the central valley, the other in Viña del Mar, a coastal city) to run a natural experiment assessing the impact of dwelling renovation on several dimensions of perceived habitability and housing satisfaction among the -mostly female-household homemakers. We use 5 waves of survey data collected with a step-wedge design to estimate the association between a time-varying exposure status (the intervention) and 7 binary outcomes for habitability and 5 for housing dissatisfaction, including overall housing satisfaction. We use Poisson regression models with robust variance and a random intercept at the respondent level. At baseline, reports of poor habitability and dissatisfaction across all features were markedly high, the highest levels of dissatisfaction being with acoustic insulation and dwelling size in both villas, and with indoor temperature in Santiago. The intervention resulted in statistically significant and markedly large improvements in reported habitability and dissatisfaction relative to those housing components targeted by the intervention, as well as with overall dwelling satisfaction in both study cases. Implications are, first, that the policy response to quantitative housing deficits must not overlook housing quality; second, that housing renovation appears as a promising intervention for qualitative housing crises; third, that while improvements in habitability and satisfaction are specific to the interventions in place, overall housing satisfaction can improve in more limited, tailored, dwelling renovation interventions. Social housing renovation in Latin America appears as a promising intervention to improve quality of life among the urban poor dwellers and reduce inequalities in health related to housing conditions.
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Satisfacción Personal , Vivienda Popular , Humanos , Chile , Femenino , Masculino , Vivienda Popular/estadística & datos numéricos , Vivienda Popular/normas , Adulto , Persona de Mediana Edad , Remodelación Urbana , Vivienda/estadística & datos numéricos , Vivienda/normas , Encuestas y CuestionariosRESUMEN
OBJECTIVES: To determine the prevalence of suspected abuse of non-institutionalised elderly people and the associated variables. PATIENTS AND METHOD: Observational, descriptive, cross-sectional, multicentre study in patients aged 65 years or older, non-institutionalised, consecutively selected in primary care (PC). The EASI questionnaires (Suspected Elderly Abuse Index), the EAI questionnaire (Suspected Abuse Index in patients with cognitive impairment), the Barthel index, and the EUROQOL-5D questionnaire were used with patients, and the CASE questionnaire and the Zarit test were used with caregivers. Socio-demographic, health, and quality of life variables were analysed in all patients. RESULTS: Eight hundred four patients were included, mean age 78.9±7.9 years, 58.3% women. The prevalence of suspected abuse was 11.3% (95% CI: 9.1%-13.9%). Suspected abuse was more frequent in women than in men (14.4% vs. 7.1%; odds ratio (OR)=1.97; 95% CI=1.1-3.4; p=0.016) and in those who lived with two or more people compared to those who lived alone (18.4% vs. 7.3%; OR=2.42; 95% CI=1.1-5.0; p=0.017). Among older patients, the lower their dependency, the lower the prevalence of suspected abuse (30.0% in highly dependent vs. 8.7% in non-dependent: p-trend=0.006); and the better the perceived health status, the lower the prevalence of suspected abuse (29.6% in poor health status vs. 6.9% in optimal health status; p-trend=<0.001). Among caregivers, the prevalence of suspected abuse was 20.4% (95% CI=12.8%-28.0%). A trend of higher prevalence of suspected abuse could be observed with higher scores on the CASE questionnaire (56.3% at high risk and 9.6% with no risk of abuse; p-trend=0.007). In the case of the ZARIT questionnaire with scores below 47, the prevalence of suspected abuse was 9.1%, and for scores above 55, it was 52.6% (p-trend<0.001). CONCLUSIONS: The results of the PRESENCIA study show that approximately 1 in 10 patients aged ≥65 meet the criteria for suspected abuse. The probability of abuse increases in women, in patients with greater dependency and in patients with poorer perceived health status. Caregivers with greater overload and greater risk presented a greater suspicion of elder abuse.
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Exosomes are secreted vesicles of ~30 to 150 nm diameter that play important roles in human health and disease. To better understand how cells release these vesicles, we examined the biogenesis of the most highly enriched human exosome marker proteins, the exosomal tetraspanins CD81, CD9, and CD63. We show here that endocytosis inhibits their vesicular secretion and, in the case of CD9 and CD81, triggers their destruction. Furthermore, we show that syntenin, a previously described exosome biogenesis factor, drives the vesicular secretion of CD63 by blocking CD63 endocytosis and that other endocytosis inhibitors also induce the plasma membrane accumulation and vesicular secretion of CD63. Finally, we show that CD63 is an expression-dependent inhibitor of endocytosis that triggers the vesicular secretion of lysosomal proteins and the clathrin adaptor AP-2 mu2. These results suggest that the vesicular secretion of exosome marker proteins in exosome-sized vesicles occurs primarily by an endocytosis-independent pathway.
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Endocitosis , Exosomas , Tetraspanina 30 , Exosomas/metabolismo , Humanos , Tetraspanina 30/metabolismo , Biomarcadores/metabolismo , Sinteninas/metabolismo , Sinteninas/genética , Tetraspanina 28/metabolismo , Membrana Celular/metabolismo , Complejo 2 de Proteína Adaptadora/metabolismo , Tetraspanina 29/metabolismoRESUMEN
Aspergillus fumigatus is an important global fungal pathogen of humans. Azole drugs are among the most effective treatments for A. fumigatus infection. Azoles are also widely used in agriculture as fungicides against fungal pathogens of crops. Azole-resistant A. fumigatus has been increasing in Europe and Asia for two decades where clinical resistance is thought to be driven by agricultural use of azole fungicides. The most prevalent mechanisms of azole resistance in A. fumigatus are tandem repeats (TR) in the cyp51A promoter coupled with mutations in the coding region which result in resistance to multiple azole drugs (pan-azole resistance). Azole-resistant A. fumigatus has been isolated from patients in the United States (U.S.), but little is known about its environmental distribution. To better understand the distribution of azole-resistant A. fumigatus in the U.S., we collected isolates from agricultural sites in eight states and tested 202 isolates for sensitivity to azoles. We found azole-resistant A. fumigatus in agricultural environments in seven states showing that it is widespread in the U.S. We sequenced environmental isolates representing the range of U.S. sample sites and compared them with publicly available environmental worldwide isolates in phylogenetic, principal component, and ADMIXTURE analyses. We found worldwide isolates fell into three clades, and TR-based pan-azole resistance was largely in a single clade that was strongly associated with resistance to multiple agricultural fungicides. We also found high levels of gene flow indicating recombination between clades highlighting the potential for azole-resistance to continue spreading in the U.S.IMPORTANCEAspergillus fumigatus is a fungal pathogen of humans that causes over 250,000 invasive infections each year. It is found in soils, plant debris, and compost. Azoles are the first line of defense antifungal drugs against A. fumigatus. Azoles are also used as agricultural fungicides to combat other fungi that attack plants. Azole-resistant A. fumigatus has been a problem in Europe and Asia for 20 years and has recently been reported in patients in the United States (U.S.). Until this study, we did not know much about azole-resistant A. fumigatus in agricultural settings in the U.S. In this study, we isolated azole-resistant A. fumigatus from multiple states and compared it to isolates from around the world. We show that A. fumigatus which is resistant to azoles and to other strictly agricultural fungicides is widespread in the U.S.
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Aspergillus fumigatus , Fungicidas Industriales , Humanos , Estados Unidos , Fungicidas Industriales/farmacología , Azoles/farmacología , Filogenia , Farmacorresistencia Fúngica/genética , Antifúngicos/farmacología , Proteínas Fúngicas/genética , Pruebas de Sensibilidad MicrobianaRESUMEN
Urban air pollution is one of the most important environmental problems for human health and several strategies have been developed for its mitigation. The objective of this study is to assess the impact of single and combined mitigation measures on concentrations of air pollutants emitted by traffic at pedestrian level in the same urban environment. The effectiveness of different scenarios of green infrastructure (GI), the implementation of photocatalytic materials and traffic low emission zones (LEZ) are investigated, as well as several combinations of LEZ and GI. A wide set of scenarios is simulated through Computational Fluid Dynamics (CFD) modelling for two different wind directions (perpendicular (0°) and 45° wind directions). Wind flow for the BASE scenario without any measure implemented was previously evaluated using wind-tunnel measurements. Air pollutant concentrations for this scenario are compared with the results obtained from the different mitigation scenarios. Reduction of traffic emissions through LEZ is found to be the most effective single measure to improve local air quality. However, GI enhances the effects of LEZ, which makes the combination of LEZ + GI a very effective measure. The effectiveness of this combination depends on the GI layout, the intensity of emission reduction in the LEZ and the traffic diversion in streets surrounding the LEZ. These findings, in line with previous literature, suggest that the implementation of GI may increase air pollutant concentrations at pedestrian level for some cases. However, this study highlights that this negative effect on air quality can turn into positive when used in combination with reductions of local traffic emissions.
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The surgical treatment of patients with cleft lip and palate depends on the characteristics of the affected anatomical structures (palate, lip and nose). The objective of this work was to develop a quantified classification for these clefts, to represent their surgical complexity. This work was developed with the team of surgeons of the SUMA Cleft Leadership Center (CLC) Smile Train Mexico. The method of Multiple-Criteria Decision Analysis was applied using the Analytic Hierarchy Approach. A surgical complexity factor associated with each cleft was defined and it was validated in a sample of fifty patients treated at the SUMA-CLC.Clinical Relevance- A quantitative classification that represents the surgical complexity of clefts provides an objective unified criteria for planning the surgical treatment of patients, as well as having standardized procedures for the surgical treatment of patients.
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Labio Leporino , Fisura del Paladar , Cirujanos , Humanos , Labio Leporino/cirugía , Fisura del Paladar/cirugía , NarizRESUMEN
Parent-Child Interaction Therapy (PCIT) is an evidence-based practice that effectively prevents and treats child disruptive behaviors and child physical maltreatment and reduces parenting stress. PCIT was adapted for telehealth delivery, internet-delivered PCIT (iPCIT), before the COVID-19 pandemic but was not widely implemented until the rapid transition to telehealth during stay-at-home orders. To understand how clinicians adapted PCIT during COVID-19, we followed up on a previous study investigating community clinician adaptations of PCIT pre-COVID-19 using the Lau et al. (2017) Augmenting and Reducing Framework. Clinicians (N = 179) who responded to the follow-up survey and reported delivering PCIT remotely completed a quantitative measure of adaptations at both time points (Fall 2019; Summer 2020) to assess how adaptations to PCIT changed following lockdown measures. Clinicians (n = 135) also provided qualitative descriptions of adaptations made early in the COVID-19 pandemic. Clinicians in the full sample were 74.3% Non-Hispanic White and 14% Latinx. Most clinicians had a master's degree (66.5%), were licensed (80.4%), and were PCIT-certified (70.4%). Paired samples t-tests showed that clinicians reported similar levels of augmenting t(179) = -0.09, p=.926) and reducing adaptations t(179) = -0.77, p=.442) at both time points. Unlike quantitative findings, qualitative findings indicated that clinicians described engaging in many types of adaptations in response to the pandemic. Clinicians discussed engaging in augmenting adaptations by extending treatment length and integrating other practices into treatment. Clinicians also discussed engaging in reducing adaptations. Implications and future directions will be discussed.
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Parent-Child Interaction Therapy (PCIT) is an evidence-based practice (EBP) for young children with challenging behaviors. PCIT has been adapted to treat varying presentations and culturally diverse families. Although efforts have been made to disseminate PCIT into community settings, which often serve clinically complex, socio-culturally diverse, and marginalized communities, barriers to disseminating adapted models remain. An alternative strategy to understanding how to increase access to appropriately adapted PCIT is to learn from community clinicians' practice-based adaptations to meet their clients' diverse needs related to clinical presentation, culture, and language. This mixed-method study investigated community clinician adaptations of PCIT. Clinicians (N = 314) were recruited via PCIT listservs to complete a survey collecting background information, and adaptations to PCIT. Most clinicians had a master's degree (72.1%), were licensed (74.2%), and were PCIT-certified (70.7%). Qualitative interviews were conducted with a purposeful sample of 23 community clinicians, who were 39% Spanish-speaking, were 30% Latinx, and 30% reported serving a ≥50% Latinx clientele. Clinicians reported engaging in adaptations aimed at augmenting PCIT more extensively than adaptations involving removing core components. Themes from qualitative interviews converged with quantitative findings, with clinicians most frequently describing augmenting adaptations, and highlighted reasons for adapting PCIT. Clinicians primarily augmented treatment to address clients' clinical presentations. Clinicians rarely adapted treatment specifically for culture, but when mentioned, clinicians discussed tailoring idioms and phrases to match clients' culture for Spanish-speaking clients. Implications for training PCIT clinicians in intervention adaptations will be discussed.
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Objetivo: Evaluar los resultados a largo plazo en el tratamiento quirúrgico de la enfermedad pilonidal sacrocoxígea (EPS), comparando las diferentes técnicas quirúrgicas utilizadas, complicaciones, tiempo de cicatrización y recidiva. Material y Método: Estudio trasversal retrospectivo. Se revisaron las fichas de los pacientes intervenidos por EPS entre enero 2017 hasta agosto 2021. Para el seguimiento se obtuvo la información desde los registros de los controles periódicos en nuestro centro y aquellos que no continuaron con estos controles se contactaron telefónicamente. Resultados: Se recopilaron 309 casos, con una media de seguimiento de 15,6 meses. Las técnicas más utilizadas para la fase crónica de EPS fueron marsupialización y Karydakis, con tiempo de cicatrización completa de 54,5 y 18,2 días, respectivamente. La presencia de complicaciones prolongó el tiempo de cicatrización en 46,5 días en Karydakis, con mínimo impacto en marsupialización. La tasa de recidiva fue menor en Karydakis y en etapa aguda cuando se realiza destechamiento y legrado. La profilaxis antibiótica no afectó el riesgo de complicaciones postoperatorias. Discusión: El desarrollo de complicaciones postoperatorias tiene mayor impacto en la cicatrización de la técnica cerrada que en la abierta, siendo esta última más tolerante en cuanto a la cicatrización frente a complicaciones. Conclusión: La intervención con técnica de Karydakis logra la cicatrización de la herida operatorio en menor tiempo que la marsupialización, sin embargo, al desarrollar complicaciones, este tiempo aumenta 3,5 veces más. La recurrencia fue menor en Karydakis. En absceso se recomienda el desteche y legrado por sobre el drenaje exclusivo
Aim: To evaluate long-term results in the surgical treatment of sacrococcygeal pilonidal disease (SPD) comparing the different surgical techniques used, complications, healing time and recurrence. Material and Method: Retrospective cross-sectional study. The files of the patients operated on for EPS between January 2017 and August 2021 were reviewed. For follow-up, information was obtained from the records of the periodic controls in our center; those who did not continue with these controls were contacted by telephone. Results: 309 cases were collected, with a mean follow-up of 15.6 months. The most used techniques for the chronic phase of EPS were marsupialization and Karydakis, achieving complete wound healing in 54.5 and 18.2 days, respectively. The presence of complications prolonged the healing time by 46.5 days in Karydakis, with minimal impact on marsupialization. The recurrence rate was lower in Karydakis and in the acute stage when unroofing and curettage were performed. Antibiotic prophylaxis did not increase the risk of postoperative complications. Discussion: The development of postoperative complications has a greater impact on the healing of the closed technique than in the open technique, the last one seems to be more tolerant in terms of healing in the presence of complications. Conclusion: The intervention with the Karydakis technique achieves healing of the surgical wound in less time than marsupialization, however, when complications develop, this time increases 3.5 times more. Recurrence was lower in Karydakis. In abscess weaning and curettage is recommended over the exclusive drainage.
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The purpose of this study is to compare group B Streptococcus (GBS) infection incidence in HIV-exposed uninfected (HEU) and HIV-unexposed (HU) infants in a Spanish cohort. We conducted a retrospective study in 5 hospitals in Madrid (Spain). Infants ≤ 90 days of life with a GBS infection were included from January 2008 to December 2017. Incidence of GBS infection in HEU and HU children was compared. HEU infants presented a sevenfold greater risk of GBS infection and a 29-fold greater risk of GBS meningitis compared to HU, with statistical significance. Early-onset infection was tenfold more frequent in HEU children, with statistical significance, and late-onset infection was almost fivefold more frequent in the HUE infants' group, without statistical significance. CONCLUSION: HEU infants presented an increased risk of GBS sepsis and meningitis. One in each 500 HEU infants of our cohort had a central nervous system infection and 1 in each 200, a GBS infection. Although etiological causes are not well understood, this should be taken into account by physicians when attending this population. WHAT IS KNOWN: ⢠HIV-exposed uninfected infants are at higher risk of severe infections. ⢠An increased susceptibility of these infants to group B Streptococcus infections has been described in low- and high-income countries, including a higher risk of meningitis in a South African cohort. WHAT IS NEW: ⢠Group B Streptococcal meningitis is more frequent in HIV-exposed uninfected infants also in high-income countries. ⢠Physicians should be aware of this increased risk when attending these infants.
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Infecciones por VIH , Meningitis , Sepsis , Infecciones Estreptocócicas , Niño , Lactante , Humanos , Infecciones por VIH/complicaciones , Infecciones por VIH/epidemiología , Estudios Retrospectivos , Factores de Riesgo , Streptococcus agalactiae , Infecciones Estreptocócicas/complicaciones , Infecciones Estreptocócicas/epidemiologíaRESUMEN
BACKGROUND: Multiple sclerosis imposes a heavy burden on the person who suffers from it and on the relatives, due to the caregiving load involved. The objective was to analyse whether the inclusion of social costs in economic evaluations of multiple sclerosis-related interventions changed results and/or conclusions. METHODS: A systematic review was launched using Medline and the Cost-Effectiveness Analysis Registry of Tufts University (2000-2019). Included studies should: (1) be an original study published in a scientific journal, (2) be an economic evaluation of any multiple sclerosis-related intervention, (3) include productivity losses and/or informal care costs (social costs), (4) be written in English, (5) use quality-adjusted life years as outcome, and (6) separate the results according to the perspective applied. RESULTS: Twenty-nine articles were selected, resulting in 67 economic evaluation estimations. Social costs were included in 47% of the studies. Productivity losses were assessed in 90% of the estimations (the human capital approach was the most frequently used method), whereas informal care costs were included in nearly two-thirds of the estimations (applying the opportunity and the replacement-cost methods equally). The inclusion of social costs modified the figures for incremental costs in 15 estimations, leading to a change in the conclusions in 10 estimations, 6 of them changing from not recommended from the healthcare perspective to implemented from the societal perspective. The inclusion of social costs also altered the results from cost-effective to dominant in five additional estimations. CONCLUSIONS: The inclusion of social costs affected the results/conclusions in multiple sclerosis-related interventions, helping to identify the most appropriate interventions for reducing its economic burden from a broader perspective.
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Esclerosis Múltiple , Humanos , Análisis Costo-Beneficio , Atención a la Salud , Atención al Paciente , Análisis de Costo-EfectividadRESUMEN
El consumo de opioides ha venido incrementando en los últimos años, generando una crisis de salud pública que afecta a todo tipo de población. El uso de sustancias opiáceas ilegales en embarazadas también está en incremento, por lo que, en la práctica clínica se evidencian con mayor frecuencia resultados neonatales adversos como el síndrome de abstinencia neonatal (NAS). Adicionalmente, los niños expuestos prenatalmente a estas sustancias pueden sufrir alteraciones cognitivas, motoras o psiquiátricas durante el transcurso de su vida. Este artículo tiene como objetivo proporcionar una revisión de la literatura actualizada acerca del uso de opioides durante el embarazo y las consecuencias para los niños expuestos a estas sustancias.
Opioid consumption has increased greatly in recent years, creating a public health crisis that affects all types of population. The use of illegal opiates amongst pregnant women has also risen, causing a surge in the frequency in which adverse neonatal outcomes, such as Neonatal Abstinence Syndrome (NAS), are seen in clinical practice. Furthermore, children exposed prenatally to these substances have cognitive, motor and psychiatric adverse outcomes throughout their lifetime. This article's objective is to provide an updated literature review about opioid use during pregnancy and its consequences on children exposed in-utero.
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An increasing number of novel wearable health monitors utilize Bioimpedance (BioZ) to deliver meaningful health insights. Several integrated circuit BioZ chips have emerged to measure BioZ within the space constraints of wearable applications. One new integrated circuit BioZ chip, the MAX30009 Bioimpedance Analog Front End (AFE), has never been characterized. This paper aims to provide an initial characterization of the MAX30009. The AFE's performance was evaluated through a series of tests exploring the chip's accuracy, precision, and performance in the presence of realistic RC contact impedance circuits. The experiments found the AFE can achieve a standard deviation of 0.067 ohms and 0.033 degrees for a 100-ohm resistor and 0.0575 ohms and 0.249 degrees for a 227 nF capacitor at 50 kHz. Ultimately, a Bland-Altman analysis suggests that over the frequency range of 1 kHz - 340 kHz, the MAX30009 is interchangeable with a reference Zurich Instruments Impedance Analyzer. Clinical Relevance-The MAX30009 Bioimpedance chip is demonstrated to be interchangeable with a Zurich Instruments impedance analyzer over the range of 1 kHz - 340 kHz.
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Impedancia EléctricaRESUMEN
Introducción: El compromiso cardiovascular en la enfermedad por coronavirus 2019 (COVID-19) no necesariamente se presenta con los síntomas clásicos descriptos en la miocarditis. Es creciente la evidencia que demuestra compromiso cardiovascular subclínico en contexto de la intensa inflamación desatada, la tormenta de citocinas involucradas, el estado protrombótico basal y la disfunción endotelial consecuente. Nos propusimos analizar si la troponina T (TT) y la fracción amino-terminal del propéptido natriurético cerebral (NT-proBNP) determinada al momento de ingreso hospitalario se relacionan con la mortalidad durante la internación de estos pacientes. Material y métodos: Estudio analítico, observacional, de cohortes retrospectivas y corte transversal. Incluyó sujetos con COVID-19 internados por enfermedad moderada-severa, del 20 de marzo de 2020 al 15 de noviembre de 2020. Se analizaron las determinaciones de TT y NT-proBNP obtenidas en las primeras 24 horas de ingreso. Se consideró TT alterada si ≥ 0,014 ng/dL y NT-proBNP alterado si ≥ 300 pg/mL. Resultados: Se incluyeron 108 sujetos, 63,2% hombres, edad 51,5 años (59-43). El 28% ingreso a Unidad de Cuidados Intensivos (UCI) y el 25% falleció. El grupo de pacientes con TT elevada presentó mayor mortalidad (OR = 3,1; IC 95% = 1,10-8,85; p = 0,028) al igual que el grupo con NT-proBNP elevado (OR = 3,47; IC 95% = 1,21-9,97; p = 0,017). Al análisis multivariado sólo NT-proBNP ≥300 pg/mL se mantuvo como factor de riesgo independiente. Conclusiones: Niveles de NT-proBNP ≥ 300 pg/mL al ingreso en pacientes con COVID-19 moderada-severa se relacionaron con una mayor mortalidad.(AU)
Introduction: Cardiovascular compromise in coronavirus disease 2019 (COVID-19) does not necessarily present with the classic symptoms described in myocarditis. There is growing evidence demonstrating subclinical cardiovascular compromise in the context of the intense inflammation unleashed, the cytokine storm involved, the baseline prothrombotic state, and the consequent endothelial dysfunction. We set out to analyse whether Troponin-T (TT) and the amino-terminal fraction of pro-brain natriuretic peptide (NT-proBNP) determined at hospital admission, are related to mortality during the hospitalization of these patients. Material and methods: Analytical, observational, retrospective cohort and cross-sectional study. It included subjects with COVID-19 hospitalized for moderate-severe illness, from 20/03/20 to 15/11/20. The TT and NT-proBNP obtained in the first 24 hours from admission were analysed. Altered TT was considered if ≥.014 ng/dl and altered NT-proBNP if ≥300 pg/ml. Results: One hundred and eight subjects were included, 63.2% men, age 51.5 years (59-43), 28% were admitted to the Critical Unit and 25% died. The group with elevated TT presented higher mortality (OR = 3.1; 95%CI = 1.10-8.85; p = .02). The group with elevated NT-proBNP also show higher mortality (OR = 3.47; 95%CI = 1.21-9.97; p = .01). On multivariate analysis, only NT-proBNP ≥300 pg/ml remained an independent risk factor. Conclusions: NT-proBNP levels ≥300 pg/ml at admission in patients with moderate-severe COVID-19 were associated with higher mortality.(AU)
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Humanos , Adulto , Persona de Mediana Edad , Troponina T , Péptido Natriurético Encefálico/análisis , Biomarcadores , Coronavirus , Enfermedades Cardiovasculares , MortalidadRESUMEN
Only up to 25% of the cases in which there is a familial aggregation of breast and/or ovarian cancer are explained by germline mutations in the well-known BRCA1 and BRCA2 high-risk genes. Recently, the BRCA1-associated ring domain (BARD1), that partners BRCA1 in DNA repair, has been confirmed as a moderate-risk breast cancer susceptibility gene. Taking advantage of next-generation sequencing techniques, and with the purpose of defining the whole spectrum of possible pathogenic variants (PVs) in this gene, here we have performed a comprehensive mutational analysis of BARD1 in a cohort of 1946 Spanish patients who fulfilled criteria to be tested for germline pathogenic mutations in BRCA1 and BRCA2. We identified 22 different rare germline variants, being 5 of them clearly pathogenic or likely pathogenic large deletions, which account for 0.26% of the patients tested. Our results show that the prevalence and spectrum of mutations in the BARD1 gene might vary between different regions of Spain and expose the relevance to test for copy number variations.
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Neoplasias de la Mama , Variaciones en el Número de Copia de ADN , Neoplasias Ováricas , Proteínas Supresoras de Tumor , Ubiquitina-Proteína Ligasas , Proteína BRCA1/genética , Neoplasias de la Mama/genética , Variaciones en el Número de Copia de ADN/genética , Femenino , Genes BRCA1 , Genes BRCA2 , Predisposición Genética a la Enfermedad , Mutación de Línea Germinal , Humanos , Neoplasias Ováricas/genética , España/epidemiología , Proteínas Supresoras de Tumor/genética , Ubiquitina-Proteína Ligasas/genéticaRESUMEN
INTRODUCTION: Cardiovascular compromise in coronavirus disease 2019 (COVID-19) does not necessarily present with the classic symptoms described in myocarditis. There is growing evidence demonstrating subclinical cardiovascular compromise in the context of the intense inflammation unleashed, the cytokine storm involved, the baseline prothrombotic state, and the consequent endothelial dysfunction. We set out to analyse whether Troponin-T (TT) and the amino-terminal fraction of pro-brain natriuretic peptide (NT-proBNP) determined at hospital admission, are related to mortality during the hospitalization of these patients. MATERIAL AND METHODS: Analytical, observational, retrospective cohort and cross-sectional study. It included subjects with COVID-19 hospitalized for moderate-severe illness, from 20/03/20 to 15/11/20. The TT and NT-proBNP obtained in the first 24 hours from admission were analysed. Altered TT was considered if ≥.014 ng/dl and altered NT-proBNP if ≥300 pg/ml. RESULTS: One hundred and eight subjects were included, 63.2% men, age 51.5 years (59-43), 28% were admitted to the Critical Unit and 25% died. The group with elevated TT presented higher mortality (OR = 3.1; 95%CI = 1.10-8.85; p = .02). The group with elevated NT-proBNP also show higher mortality (OR = 3.47; 95%CI = 1.21-9.97; p = .01). On multivariate analysis, only NT-proBNP ≥300 pg/ml remained an independent risk factor. CONCLUSIONS: NT-proBNP levels ≥300 pg/ml at admission in patients with moderate-severe COVID-19 were associated with higher mortality.
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COVID-19 , Péptido Natriurético Encefálico , Fragmentos de Péptidos , Troponina T , Biomarcadores/sangre , Encéfalo , COVID-19/mortalidad , Estudios Transversales , Femenino , Humanos , Masculino , Persona de Mediana Edad , Péptido Natriurético Encefálico/sangre , Fragmentos de Péptidos/sangre , Pronóstico , Estudios Retrospectivos , Troponina T/sangreRESUMEN
Objetivos: Conocer el grado de control óptimo simultáneo de la diabetes (DM), hipertensión arterial (HTA) e hipercolesterolemia y determinar los factores asociados. Material y métodos: Estudio descriptivo transversal en pacientes diabéticos de 18 o más de edad, seleccionados consecutivamente en consultas de medicina de familia (MF). Los datos de los pacientes se obtuvieron mediante acceso a la historia informatizada, registrándose variables clínicas y analíticas de interés. Se consideró buen control metabólico una HbA1c < 7%, buen control de la presión arterial (PA) valores < 140/80 mmHg y buen control de colesterol LDL (c-LDL) valores < 100 mg/dL. Se realizó análisis bivariante y se calcularon odds ratio (OD) en un modelo de regresión logística. El estudio fue aprobado por el CEIm del Hospital Clínico San Carlos (Madrid). Resultados: Se incluyó a 1.420 pacientes (55,8% varones), con una edad media (DE) de 70,6 (10,8) años. El 75,9% eran hipertensos y el 69,1% dislipémicos. Los valores de HbA1c fueron de 6,9 (1,2) %, PA sistólica 135,0 (16,8) mmHg, PA diastólica 75,9 (10,6) mmHg y LDL-colesterol 93,7 (32,8) mg/dL. El buen control metabólico de la DM se alcanzó en el 63% (intervalo de confianza [IC] 95%: 60,4-65,5), el buen control de la HTA en el 42,6% (IC 95%: 40,0-45,2) y el buen control de colesterol LDL en el 61,1% (IC 95%: 58,4-63,7) de los pacientes. El buen control de los tres factores de riesgo cardiovascular (FRCV) simultáneamente se alcanzó en el 16,1% (IC 95%: 14,2-18,1). Se observó una asociación positiva e independiente (p < 0,05) entre el buen control simultáneo de los FRCV con la edad (OR: 1.017) y los antecedentes personales de enfermedad cardiovascular (OR: 1.596). Conclusiones: Los resultados de nuestro estudio indican que una proporción pequeña, menos de dos de cada 10 pacientes cumplen los objetivos de buen control recomendados por las guías de práctica clínica (AU)
Objectives: To know the degree of simultaneous optimal control of diabetes (DM), high blood pressure (BP) and hypercholesterolemia and determine the associated factors. Material and method: Cross-sectional descriptive study in diabetic patients 18 years aged or older selected consecutively in primary care centers (PC). Patient data were obtained through access to electronical clinical history. Clinical and analytical variables of interest were registered. Good metabolic control was considered as HbA1c < 7%, good blood pressure control (PA) as values < 140/80 mmHg and good LDL cholesterol control (c-LDL) as values < 100 mg/dL. Bivariate analysis was performed and odds ratio were calculated in a logistic regression model. The study was approved by the San Carlos Clinical Hospital's Clinical Research Ethics Committee (CREC), in Madrid. Results: 1420 patients (55.8% male), with an average (SD) age of 70.6 (10.8) years were included. 75.9% were hypertensive patients, and 69.1% dyslipemic. HbA1c values were 6.9 (1.2) %, sistolic BP 135.0 (16.8) mmHg, diastolic BP 75.9 (10.6) mmHg and LDL-cholesterol 93.7 (32.8) mg/dL. Good metabolic control of DM was achieved at 63.0% (95% CI: 60.465.5), good control of HTA at 42.6% (95% CI: 40.045.2) and good LDL cholesterol control in 61.1% (95% IC: 58.463.7) of patients. Good simultaneous control of the three cardiovascular risk factors (CVRF) was reached at 16.1% (95% CI: 14.218.1). A positive and independent association (p<0.05) was observed between good simultaneous control of CVRF with age (OR: 1.017) and with personal history of cardiovascular disease (OR: 1.596). Conclusions: The results of our study indicate that a small proportion, less than two out of 10 patients, meet the good control goals recommended by clinical practice guidelines. We found important differences between patients with and without cardiovascular disease (AU)
Asunto(s)
Humanos , Masculino , Femenino , Persona de Mediana Edad , Anciano , Anciano de 80 o más Años , Hipertensión/diagnóstico , Hipercolesterolemia/diagnóstico , Diabetes Mellitus Tipo 2/complicaciones , Angiopatías Diabéticas/prevención & control , Guías de Práctica Clínica como Asunto , Estudios TransversalesRESUMEN
Introducción y objetivos: El implante percutáneo de la válvula aórtica se ha consolidado como tratamiento de la estenosis aórtica grave inoperable o de alto riesgo quirúrgico. Recientemente las indicaciones se han ampliado a riesgo intermedio y bajo. Nuestro objetivo es evaluar la eficiencia de SAPIEN 3 frente al tratamiento médico conservador (TMC) o el reemplazo quirúrgico de válvula aórtica (RVA) en pacientes sintomáticos inoperables con riesgo alto e intermedio.´Métodos: Análisis de coste-efectividad de SAPIEN 3 frente a RVA/TMC mediante un modelo de Markov (ciclos mensuales) adaptado con 8 estados definidos por la New York Hearth Association y resultados a 15 años, incluidos las complicaciones mayores y el tratamiento tras el alta hospitalaria, desde la perspectiva del Sistema Nacional de Salud. Los parámetros de efectividad se basan en los estudios PARTNER. Se incluyeron costes sanitarios (en euros de 2019) derivados del procedimiento, hospitalización, complicaciones clínicas y seguimiento. Se aplicó una tasa de descuento anual del 3% en costes y beneficios. El análisis de sensibilidad fue determinístico y probabilístico (Monte Carlo). Resultados: En comparación con el RVA (riesgo alto e intermedio) y el TMC (inoperables), el SAPIEN 3 implicó mejores resultados en las 3 poblaciones y menor estancia. Las tasas de coste-utilidad incremental fueron 5.471 (riesgo alto), 8.119 (riesgo intermedio) y 9.948 (inoperables) euros/años de vida ajustados por calidad ganados. En el análisis probabilístico, el SAPIEN 3 resultó coste-efectivo por encima del 75% de las simulaciones en los 3 perfiles. Conclusiones: En nuestro medio, el SAPIEN 3 permite un tratamiento eficiente de la estenosis aórtica grave tanto en pacientes inoperables como en riesgo alto e intermedio (AU)
Introduction and objectives: Transcatheter aortic valve implant has become a widely accepted treatment for inoperable patients with aortic stenosis and patients at high surgical risk. Its indications have recently been expanded to include patients at intermediate and low surgical risk. Our aim was to evaluate the efficiency of SAPIEN 3 vs conservative medical treatment (CMT) or surgical aortic valve replacement (SAVR) in symptomatic inoperable patients at high or intermediate risk. Methods: We conducted a cost-effectiveness analysis of SAPIEN 3 vs SAVR/CMT, using a Markov model (monthly cycles) with 8 states defined by the New York Heart Association and a time horizon of 15 years, including major complications and management after hospital discharge, from the perspective of the National Health System. Effectiveness parameters were based on the PARTNER trials. Costs related to the procedure, hospitalization, complications, and follow-up were included (euros in 2019). An annual discount rate of 3% was applied to both costs and benefits. Deterministic and probabilistic sensitivity analyses (Monte Carlo) were performed. Results: Compared with SAVR (high and intermediate risk) and CMT (inoperable), SAPIEN 3 showed better clinical results in the 3 populations and lower hospital stay. Incremental cost-utility ratios (/quality-adjusted life years gained) were 5471 (high risk), 8119 (intermediate risk) and 9948 (inoperable), respectively. In the probabilistic analysis, SAPIEN 3 was cost-effective in more than 75% of the simulations in the 3 profiles. Conclusions: In our health system, SAPIEN 3 facilitates efficient management of severe aortic stenosis in inoperable and high- and intermediate-risk patients (AU)
Asunto(s)
Humanos , Reemplazo de la Válvula Aórtica Transcatéter/economía , Estenosis de la Válvula Aórtica/cirugía , Índice de Severidad de la Enfermedad , Análisis Costo-Beneficio , Cadenas de MarkovRESUMEN
The concentrations of As, Cd, Cu, Pb and Zn were measured in muscle tissue of Coryphaena hippurus captured in the southern Gulf of California to determine inter-annual variations and their relation with environmental parameters for the period 2006-2015; additionally, health risk to consumers was assessed according to levels of studied elements and rate of fish consumption in northwest Mexico. During 2014 and 2015 the levels of As, Cd, Cu, and Zn were significantly lower than the rest of the years; in the case of As, it was also significantly lower in 2010. Oceanic Niño Index was negatively correlated with Zn concentrations in fish, while sea surface temperature was negatively correlated with Zn, Pb and Cd concentrations in dolphinfish. The simultaneous occurrence of the analyzed elements in muscle of dolphinfish indicated that health effects on consumers are not likely to occur; nevertheless, fishermen with elevated fish consumption might be at risk.