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AIMS: To investigate the association between the elapsed time to cardiology care following a primary care physician (PCP) referral and 1 year outcomes among patients with heart failure (HF). METHODS: Data from electronic medical records at our institution encompassing all PCP referrals to cardiology consultation from 2010 to 2021 (N = 68 518) were analysed. Of these, 6379 patients had a prior diagnosis of HF. Using a Cox regression model for hospitalization and mortality outcomes, the association between delay time in cardiology care post-PCP referral and 1 year outcomes was examined, adjusting for age, gender and comorbidities. RESULTS: A significant increase in 1 year mortality rates with delayed cardiology care was observed for each day: all-cause (0.25%), cardiovascular (CV) (0.13%) and HF (0.11%). In multivariate analysis, continuous delay to consultation was independently associated with higher risk of all-cause [hazard ratio (HR): 1.02; 95% confidence interval (CI) (1.01-1.02); P < 0.01], CV [1.01 (1.00-1.02); P < 0.01] and HF mortality (HR: 1.01; 95% CI 1.00-1.03; P < 0.01). Patients attended in the 25th quartile of time delay (<2 days) had significantly lower mortality and HF readmission rates [1.21 (1.10-1.33); P < 0.01] as compared with patients in the 75th quartile (>14 days). CONCLUSIONS: Delay in cardiology assistance following a PCP referral among patients previously diagnosed with HF was associated with increased in all-cause, CV, and HF mortality at 1 year.
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Developmental dysplasia of the hip (DDH) is the most common musculoskeletal anomaly of childhood. This study analyses paediatrician's concordance performing hip ultrasound according to Graf's method. An analytical cross-sectional study is designed. Patients' hips are evaluated by Graf's ultrasound method at 4-6 and 12-16 weeks of age. Demographic characteristics, pregnancy history, factors related to DDH, hip type, and α and ß angles are collected. To assess the agreement degree of hip diagnosis and hip types Kappa index (I. kappa) is used. Intraclass correlation coefficient (ICC) evaluates the concordance of α and ß angles. A p value < 0.05 is considered statistically significant. All results are represented with their 95% confidence interval (95% CI). Four hundred sixty-seven neonates are recruited and meet the inclusion criteria. A total of 3182 images were analysed. Agreement between paediatricians according to hip diagnosis and different types ranges from moderate to almost perfect I. kappa 0.6-1.0 (95% CI 0.5-0.7; 95% CI 1.0-1.0). α angle ICC for paediatricians is between 0.75 and 0.88 (95% CI 0.61-0.86; 95% CI 0.80-0.92). ß angle value agreement degree among paediatricians at both visits is moderate. The Graf method is the most popular ultrasound technique for hip assessment. In our setting, paediatricians carry out children follow-up; therefore, they should perform universal screening. In this study agreement degree between paediatricians varies between substantial and almost perfect. Conclusion: The Graf ultrasound procedure performed by paediatricians is a reliable test and can be used for DDH screening. What is Known ⢠Developmental dysplasia of the hip (DDH) is the most common congenital musculoskeletal anomaly of childhood. Early diagnosis and treatment improve DDH prognosis. Lack of detection can cause complications such as lameness, early osteoarthritis and need for hip replacement at an early age. What is New ⢠Today, the best screening method is still subject of debate. But it seems that with selective screening many pathological hips go unnoticed. Universal screening implementation may be a challenge in some countries. But the question is if this could be carried out by paediatricians as part of healthy child follow-up.
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Displasia del Desarrollo de la Cadera , Ultrasonografía , Humanos , Estudios Transversales , Femenino , Masculino , Ultrasonografía/métodos , Recién Nacido , Displasia del Desarrollo de la Cadera/diagnóstico por imagen , Lactante , Luxación Congénita de la Cadera/diagnóstico por imagen , Luxación Congénita de la Cadera/diagnóstico , Pediatras , Tamizaje Neonatal/métodos , Reproducibilidad de los Resultados , Variaciones Dependientes del ObservadorRESUMEN
Muscle dysfunction and muscle atrophy are common complications resulting from Chronic Obstructive Pulmonary Disease (COPD). The evaluation of the peripheral muscles can be carried out through the assessment of their structural components from ultrasound images or their functional components through isometric and isotonic strength tests. This evaluation, performed mainly on the quadriceps muscle, is not only of great interest for diagnosis, prognosis and monitoring of COPD, but also for the evaluation of the benefits of therapeutic interventions. In this work, bioimpedance spectroscopy technology is proposed as a low-cost and easy-to-use alternative for the evaluation of peripheral muscles, becoming a feasible alternative to ultrasound images and strength tests for their application in routine clinical practice. For this purpose, a laboratory prototype of a bioimpedance device has been adapted to perform segmental measurements in the quadriceps region. The validation results obtained in a pseudo-randomized study in patients with COPD in a controlled clinical environment which involved 33 volunteers confirm the correlation and correspondence of the bioimpedance parameters with respect to the structural and functional parameters of the quadriceps muscle, making it possible to propose a set of prediction equations. The main contribution of this manuscript is the discovery of a linear relationship between quadriceps muscle properties and the bioimpedance Cole model parameters, reaching a correlation of 0.69 and an average error of less than 0.2 cm regarding the thickness of the quadriceps estimations from ultrasound images, and a correlation of 0.77 and an average error of 3.9 kg regarding the isometric strength of the quadriceps muscle.
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Impedancia Eléctrica , Enfermedad Pulmonar Obstructiva Crónica , Humanos , Enfermedad Pulmonar Obstructiva Crónica/fisiopatología , Enfermedad Pulmonar Obstructiva Crónica/diagnóstico , Enfermedad Pulmonar Obstructiva Crónica/diagnóstico por imagen , Masculino , Músculo Cuádriceps/fisiopatología , Músculo Cuádriceps/diagnóstico por imagen , Músculo Cuádriceps/fisiología , Persona de Mediana Edad , Anciano , Femenino , Espectroscopía Dieléctrica/métodos , Espectroscopía Dieléctrica/instrumentación , Fuerza Muscular/fisiología , Músculo Esquelético/fisiopatología , Músculo Esquelético/diagnóstico por imagenRESUMEN
Natural ageing is accompanied by a decline in motor, sensory, and cognitive functions, all impacting quality of life. Ageing is also the predominant risk factor for many neurodegenerative diseases, including Parkinson's disease and Alzheimer's disease. We need to therefore gain a better understanding of the cellular and physiological processes underlying age-related neuronal decay. However, gaining this understanding is a slow process due to the large amount of time required to age mammalian or vertebrate animal models. Here, we introduce a new cellular model within the Drosophila brain, in which we report classical ageing hallmarks previously observed in the primate brain. These hallmarks include axonal swellings, cytoskeletal decay, a reduction in axonal calibre, and morphological changes arising at synaptic terminals. In the fly brain, these changes begin to occur within a few weeks, ideal to study the underlying mechanisms of ageing. We discovered that the decay of the neuronal microtubule (MT) cytoskeleton precedes the onset of other ageing hallmarks. We showed that the MT-binding factors Tau, EB1, and Shot/MACF1, are necessary for MT maintenance in axons and synapses, and that their functional loss during ageing triggers MT bundle decay, followed by a decline in axons and synaptic terminals. Furthermore, genetic manipulations that improve MT networks slowed down the onset of neuronal ageing hallmarks and confer aged specimens the ability to outperform age-matched controls. Our work suggests that MT networks are a key lesion site in ageing neurons and therefore the MT cytoskeleton offers a promising target to improve neuronal decay in advanced age.
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Proteínas de Drosophila , Calidad de Vida , Animales , Citoesqueleto , Neuronas/patología , Drosophila , Microtúbulos , Envejecimiento , Mamíferos , Proteínas Asociadas a Microtúbulos , Proteínas de Drosophila/genéticaRESUMEN
BACKGROUND: The prevalence of cancer patients with concomitant cardiovascular (CV) disease is on the rise due to improved cancer prognoses. The aim of this study is to evaluate the long-term outcomes of cancer patients referred to a cardiology department (CD) via primary care using e-consultation. METHODS: We analysed data from cancer patients with prior referrals to a CD between 2010 and 2021 (n = 6889) and compared two care models: traditional in-person consultations and e-consultations. In e-consultation model, cardiologists reviewed electronic health records (e-consultation) to determine whether the demand could be addressed remotely or necessitated an in-person consultation. We used an interrupted time series regression model to assess outcomes during the two periods: (1) time to cardiology consultation, (2) rates of all-cause and CV related hospital admissions and (3) rates of all-cause and CV-related mortality within the first year after the initial consultation or e-consultation at the CD. RESULTS: Introduction of e-consultation for cancer patients referred to cardiology care led to a 51.8% reduction (95%CI: 51.7%-51.9%) in waiting times. Furthermore, we observed decreased 1-year incidence rates, with incidence rate ratios (iRRs) [IC95%] of .75 [.73-.77] for CV-related hospitalizations, .43 [.42-.44] for all-cause hospitalizations, and .87 [.86-.88] for all-cause mortality. CONCLUSIONS: Compared to traditional in-person consultations, an outpatient care program incorporating e-consultation for cancer patients significantly reduced waiting times for cardiology care and demonstrated safety, associated with lower rates of hospital admissions.
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Enfermedades Cardiovasculares , Neoplasias , Atención Primaria de Salud , Derivación y Consulta , Humanos , Neoplasias/terapia , Neoplasias/epidemiología , Masculino , Femenino , Persona de Mediana Edad , Anciano , Enfermedades Cardiovasculares/epidemiología , Registros Electrónicos de Salud , Cardiología , Análisis de Series de Tiempo Interrumpido , Consulta Remota , Hospitalización/estadística & datos numéricos , Listas de Espera , Telemedicina , Servicio de Cardiología en Hospital/organización & administraciónRESUMEN
Ciliary defects cause several ciliopathies, some of which have late onset, suggesting cilia are actively maintained. Still, we have a poor understanding of the mechanisms underlying their maintenance. Here, we show Drosophila melanogaster IFT88 (DmIFT88/nompB) continues to move along fully formed sensory cilia. We further identify Inactive, a TRPV channel subunit involved in Drosophila hearing and negative-gravitaxis behaviour, and a yet uncharacterised Drosophila Guanylyl Cyclase 2d (DmGucy2d/CG34357) as DmIFT88 cargoes. We also show DmIFT88 binding to the cyclase´s intracellular part, which is evolutionarily conserved and mutated in several degenerative retinal diseases, is important for the ciliary localisation of DmGucy2d. Finally, acute knockdown of both DmIFT88 and DmGucy2d in ciliated neurons of adult flies caused defects in the maintenance of cilium function, impairing hearing and negative-gravitaxis behaviour, but did not significantly affect ciliary ultrastructure. We conclude that the sensory ciliary function underlying hearing in the adult fly requires an active maintenance program which involves DmIFT88 and at least two of its signalling transmembrane cargoes, DmGucy2d and Inactive.
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Proteínas de Drosophila , Drosophila , Animales , Drosophila/metabolismo , Cilios/metabolismo , Drosophila melanogaster/metabolismo , Proteínas de Drosophila/genética , Proteínas de Drosophila/metabolismo , AudiciónRESUMEN
Aims: To evaluate the impact of an outpatient care management programme that includes a clinician-to-clinician e-consultation on delay time in care, hospital admissions, and mortality in a high-risk group of patients with heart failure (HF) and previous episodes of HF hospitalization (HFH). Methods and results: We selected 6444 HF patients who visited the cardiology service at least once between 2010 and 2021. Of these, 4851 were attended in e-consult, and 2230 had previous HFH. Using an interrupted time series regression model, we analysed the impact of incorporating e-consult into the healthcare model in the group of patients with HFH and evaluated the elapsed time to cardiology care, HF, cardiovascular (CV), and all-cause hospital admissions and mortality, calculating the incidence relative risk (iRR). In the group of patients with HFH, the introduction of e-consult substantially decreased waiting times to cardiology care (8.6 [8.7] vs. 55.4 [79.9] days, P < 0.001). In that group of patients, after e-consult implantation, hospital admissions for HF were reduced (iRR [95%CI]: 0.837 [0.840-0.833]), 0.900 [0.862-0.949] for CV and 0.699 [0.678-0.726] for all-cause hospitalizations. There was also lower mortality (iRR [95%CI]: 0.715 [0.657-0.798] due to HF, 0.737 [0.764-0.706] for CV and 0.687 [0.652-0.718] for all-cause). The improved outcomes after e-consultation implementation were significantly higher in the group of patients with previous HFH. Conclusion: In patients with HFH, an outpatient care programme that includes an e-consult significantly reduced waiting times to cardiology care and was safe, with a lower rate of hospital admissions and mortality in the first year.
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INTRODUCTION: In recent years, several hospitals have incorporated MRI equipment managed directly by their cardiology departments. The aim of our work is to determine the total cost per test of both CT and MRI in the setting of a Cardiology Department of a tertiary hospital. MATERIALS AND METHODS: The process followed for estimating the costs of CT and MRI tests consists of three phases: (1) Identification of the phases of the testing process; (2) Identification of the resources consumed in carrying out the tests; (3) Quantification and assessment of inputs. RESULTS: MRI involves higher personnel (EUR 66.03 vs. EUR 49.17) and equipment (EUR 89.98 vs. EUR 33.73) costs, while CT consumes higher expenditures in consumables (EUR 93.28 vs. EUR 22.95) and overheads (EUR 1.64 vs. EUR 1.55). The total cost of performing each test is higher in MRI (EUR 180.60 vs. EUR 177.73). CONCLUSIONS: We can conclude that the unit cost of each CT and MRI performed in that unit are EUR 177.73 and EUR 180.60, respectively, attributable to consumables in the case of CT and to amortization of equipment and staff time in the case of MRI.
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At rest, a good Fontan circulation can provide a normal cardiac output (CO). However, as a consequence of its unique hemodynamic nature, the limitations of the Fontan circuit are exposed during exercise. We aimed to provide a comprehensive assessment of the pathophysiology of exercise in adult Fontan patients (FPs) and identify factors limiting their functional capacity (FC). In a single-center study conducted in 37 FPs aged ≥16 years and 19 healthy-controls (HCs) who underwent CPET on a cycle ergometer in February and March 2022, the mean peakVO2 was 21 ± 5.4 mL/kg/min, which was 55% of the predicted value. Morphologically, the left single ventricle showed a higher peakVO2% predicted value (57.4 ± 14.4% vs. 43.4 ± 8.1%, p = 0.045). The factors associated with low peakVO2 values were an early flattened or descending O2 pulse at maximal exertion (52 ± 14% vs. 62 ± 12.5, p = 0.04 and 47.6 ± 9% vs. 60 ± 14, p = 0.018, respectively) and chronotropic insufficiency (53 ± 12% vs. 69.8 ± 20%, p = 0.008). The OUES was found to be a useful parameter to assess the FC in FPs in maximal and submaximal exercise testing. A strong positive correlation was observed between the %OUES and peakVO2%predicted (r = 0.726, p > 0.001). The lung function was impaired in the FPs, mostly with a mild restrictive pattern (56.8%). The FPs showed lower inspiratory muscle strength compared to the HCs but it was not statistically associated with either the peakVO2 or VE/VCO2 slope. Regular intense physical activity improves one's FC. Although FPs have inspiratory muscle weakness, its impact on their FC is unclear. The peakVO2% predicted grew progressively higher as the level of physical activity increased (low level 49.5 ± 14%, moderate level 55 ± 12%, intense level 69 ± 20%).
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Type 2 diabetes (T2DM) is one of the main public health care problems worldwide. It is associated with a marked increased risk of developing atherosclerotic vascular disease, heart failure, chronic kidney disease and death. It is essential to act during the early phases of the disease, through the intensification of lifestyle changes and the prescription of those drugs that have been shown to reduce these complications, with the aim not only of achieving an adequate metabolic control, but also a comprehensive vascular risk control. In this consensus document, developed by the different specialists that treat these patients (endocrinologists, primary care physicians, internists, nephrologists and cardiologists), a more appropriate approach in the management of patients with T2DM or its complications is provided. A particular focus is given to the global control of cardiovascular risk factors, the inclusion of weight within the therapeutic objectives, the education of patients, the deprescription of those drugs without cardiovascular benefit, and the inclusion of GLP-1 receptor agonists and SGLT2 inhibitors as cardiovascular protective drugs, at the same level as statins, acetylsalicylic acid, or renin angiotensin system inhibitors.
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AIMS: To assess the longer-term results (hospital admissions and mortality) in women versus men referred to a cardiology department from primary care using an e-consultation in our outpatient care programme. METHODS: We selected 61,306 patients (30,312 women and 30,994 men) who visited the cardiology service at least once between 2010 and 2021: 69.1% (19,997 women and 20,462 men) were attended in e-consultation (from 2013 to 2021) and 30.9% (8920 women and 9136 men) in in-person consultations (from 2010 to 2012) without gender differences in the proportion of patients attended in each period. Using an interrupted time series regression model, we analysed the impact of incorporating e-consultation into the healthcare model and evaluated the elapsed time to cardiology care, heart failure (HF), cardiovascular (CV), and all-cause hospital admissions and mortality during the one-year after cardiology consultation. RESULTS: The introduction of e-consultation substantially decreased waiting times to cardiology care; during the in-person consultation period, the mean delay for cardiology care was 57.9 (24.8) days in men and 55.8 (22.8) days in women. During the e-consultation period, the waiting time to cardiology care was markedly reduced to 9.41 (4.02) days in men and 9.46 (4.18) in women. After e-consultation implantation, there was a significant reduction in the 1-year rate of hospital admissions and mortality, both in women and men iRR [IC 95%]: 0.95 [0.93-0.96] for HF, 0.90 [0.89-0.91] for CV and 0.70 [0.69-0.71] for all-cause hospitalization; and 0.93 [0.92-0.95] for HF, 0.86 [0.86-0.87] for CV and 0.88 [0.87-0.89] for all-cause mortality in women; and 0.91 [0.89-0.92] for HF, 0.90 [0.89-0.91] for CV and 0.72 [0.71-0.73] for all-cause hospitalization; and 0.96 [0.93-0.97] for HF, 0.87 [95% CI: 0.86-0.87] for CV and 0.87 [0.86-0.87] for all-cause mortality, in men. CONCLUSION: Compared with the in-person consultation period, an outpatient care programme that includes an e-consultation significantly reduced waiting time to cardiology care and was safe, with a lower rate of hospital admissions and mortality in the first year, without significative gender differences.
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Cardiología , Insuficiencia Cardíaca , Masculino , Humanos , Femenino , Factores Sexuales , Derivación y Consulta , Hospitalización , Accesibilidad a los Servicios de SaludRESUMEN
Aims: We aimed to assess longer-term results (accessibility, hospital admissions, and mortality) in elderly patients referred to a cardiology department (CD) from primary care using e-consultation in outpatient care. Methods and results: We included 9963 patients >80 years from 1 January 2010 to 31 December 2019. Until 2012, all patients attended an in-person consultation (2010-2012). In 2013, we instituted an e-consult programme (2013-2019) for all primary care referrals to cardiologists that preceded a patient's in-person consultation when considered. We used an interrupted time series (ITS) regression approach to investigate the impact of e-consultation on (i) cardiovascular hospital admissions and mortality. We also analysed (ii) the total number and referral rate (population-adjusted referred rate) in both periods, and (iii) the accessibility was measured as the number of consultations and variation according to the distance from the municipality and reference hospital. During e-consultation, the demand for care increased (12.8 ± 4.3% vs. 25.5 ± 11.1% per 1000 inhabitants, P < 0.001) and referrals from different areas were equalized. After the implementation of e-consultation, we observed that the increase in hospital admissions and mortality were stabilized [incidence rate ratio (iRR): 1.351 (95% CI, 0.787, 2.317), P = 0.874] and [iRR: 1.925 (95% CI: 0.889, 4.168), P = 0.096], respectively. The geographic variabilities in hospital admissions and mortality seen during the in-person consultation were stabilized after e-consultation implementation. Conclusions: Implementation of a clinician-to-clinician e-consultation programme in outpatient care was associated with improved accessibility to cardiology healthcare in elderly patients. After e-consultations were implemented, hospital admissions and mortality were stabilized.
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BACKGROUND AND OBJECTIVE: Triponderal mass index (TMI) would estimate excess adiposity better than body mass index (BMI), maintaining stable values during childhood. This work aims to determine the correlation between TMI and markers of metabolic risk as well as set values of TMI that are related to an increase of metabolic risk. MATERIAL AND METHODS: Multicenter, observational, cross-sectional and prospective study in children under 14 years of age with obesity. VARIABLES: age, sex, pubertal stage, weight, height, abdominal circumference, BMI, TMI, basal glucose and insulin, HOMA index, blood pressure, lipoprotein profile, transaminases and uric acid. BMI and TMI were expressed according to the values of the Barcelona longitudinal study. Statistical analysis was performed with the SPSS* program. RESULTS: One hundred and ninety-nine patients (50.3% male), age 11.08 (2.48) years, TMI 19.68 (2.36)kg/m3. Correlation between TMI and abdominal circumference (r=0.571; p=0), insulin (r=0.198; p=0.005), HOMA index (r=0.189; p=0.008) and HDL-c (r=-0.188; p=0.008) was observed. IMT>20.15kg/m3 was associated with insulin≥15mIU/ml (p=0.029) and IMT>20.36kg/m3 with HDL-c<40mg/dl (p=0.023). CONCLUSIONS: TMI was correlated with increase of abdominal circumference, insulin and HOMA index and decrease of HDL-c. IMT>20kg/m3 can be associated with increased insulin and decreased HDL-c. Therefore, the IMT seems to be a useful parameter in the assessment of pediatric patients with obesity.
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Resistencia a la Insulina , Síndrome Metabólico , Obesidad Infantil , Adolescente , Niño , Humanos , Masculino , Femenino , Estudios Longitudinales , Estudios Transversales , Estudios Prospectivos , Índice de Masa Corporal , Insulina , Factores de RiesgoRESUMEN
BACKGROUND: An early diagnosis and early initiation of oral anticoagulants (OAC) are main determinants for outcomes in patients with atrial fibrillation (AF). Inter-clinician electronic consultations (e-consultations) program for the general practitioner referrals to cardiologist may improve health care access by reducing the elapsed time for cardiology care. OBJECTIVE: To evaluate the effect of a reduced elapsed time to care after a inter-clinician e-consultations program implementation (2013-2019) in comparison with previous in-person consultation (2010-2012) in the outpatient health care management in a Cardiology Department. METHODOLOGY: We included 10,488 patients with AF from 1 January 2010, to 31 December 2019. Until 2012, all patients attended an in-person consultation (2010-2012). In 2013, we instituted an e-consult program (2013-2019) for all primary care referrals to cardiologists that preceded patient's in-person consultation when considered. The shared electronic patient dossier (EPD) was available between GP and cardiologist, and any change in therapy advice from cardiologist was directly implemented in this EPD. RESULTS: During the e-consultation period (2013-2019) were referred 6627 patients by GPs to cardiology versus 3861 during the in-person consultation (2010-2012). The e-consultation implementation was associated with a reduction in the elapsed time to anticoagulation prescription (177.6 ± 8.9 vs. 22.5 ± 8.1 days, p < .001), and an increase of OAC use (61% [95% IC: 19.6%-102.4%], p < .001). The e-consult program implementation was associated with a reduction in the 1-year CV mortality (.48 [95% CI: .30-.75]) and all-cause mortality (.42 [95% CI: .29-.62]). The OAC reduces the stroke mortality (.15 [95% CI: .06-.39]) and CV mortality (.43 [95% CI: .29-.62]) and all-cause mortality (.23 [95% CI: .17-.31]). CONCLUSION: A shared EPD-based inter-clinician e-consultation program significantly reduced the elapsed time for cardiology consultation and initiation of OAC. The implementation of this program was associated with a lower risk of stroke and cardiovascular/all-cause mortality.
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Fibrilación Atrial , Consulta Remota , Accidente Cerebrovascular , Humanos , Fibrilación Atrial/diagnóstico , Fibrilación Atrial/terapia , Fibrilación Atrial/complicaciones , Anticoagulantes/uso terapéutico , Accidente Cerebrovascular/prevención & control , Accidente Cerebrovascular/complicaciones , Atención Primaria de Salud , Administración Oral , Factores de RiesgoRESUMEN
OBJECTIVE: Advanced clear cell gynecologic malignancies remain among the most challenging diseases to manage. We evaluated ovarian and endometrial clear cell carcinoma (OCCC and ECCC) specimens using comprehensive sequencing technology to identify mutational targets and compared their molecular profiles to histologically similar clear cell renal cell carcinoma (ccRCC). METHODS: Using next-generation sequencing (NGS), fragment analysis (FA), and in situ hybridization (ISH), 164 OCCC, 75 ECCC and 234 ccRCC specimens from 2015 to 2018 were evaluated and compared. RESULTS: The highest mutation rates in ECCC and OCCC were noted in: ARID1A (75.0%, 87.5%), TP53 (34.8%, 11.1%), PIK3CA (25.0%, 46.8%), PPP2R1A (8.7%, 16.7%), MSI-high (8.8%, 6.4%) and PTEN (8.3%, 7.1%). Among these mutations, there was no significant difference between OCCC and ECCC mutation prevalence except in TP53, with higher mutation rates in ECCC versus OCCC (34.8 vs. 11.1%, respectively, p < 0.05). ccRCC demonstrated different mutation profiles with higher mutation rates in VHL (80.3%), PBRM1 (43.9%), SETD2 (31.1%), and KDM5C (29.2%). By contrast, VHL, PBRM1, and SETD2 mutations were not found in ECCC and OCCC (0.0%). Compared to ccRCC and ECCC, OCCC was found to have a significantly higher tumor mutation burden (TMB) (19.1%). CONCLUSION: Gynecologic and renal CCC demonstrate separate and disparate somatic profiles. However, OCCC and ECCC are diseases with similar profiles. TMB and MSI analyses indicate that a subset of OCCC may benefit from immunotherapy. Prospective clinical trials are needed and are underway to examine targeted therapies in these gynecologic disease subtypes.
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Adenocarcinoma de Células Claras , Carcinoma de Células Renales , Neoplasias Endometriales , Neoplasias Renales , Neoplasias Ováricas , Humanos , Femenino , Carcinoma de Células Renales/genética , Carcinoma de Células Renales/patología , Estudios Prospectivos , Neoplasias Endometriales/genética , Mutación , Neoplasias Renales/genética , Adenocarcinoma de Células Claras/genética , Adenocarcinoma de Células Claras/patología , Neoplasias Ováricas/genética , Neoplasias Ováricas/patologíaRESUMEN
Chronic kidney disease (CKD) is a major public health problem worldwide that affects more than 10% of the Spanish population. CKD is associated with high comorbidity rates, poor prognosis and major consumption of health system resources. Since the publication of the last consensus document on CKD seven years ago, little evidence has emerged and few clinical trials on new diagnostic and treatment strategies in CKD have been conducted, apart from new trials in diabetic kidney disease. Therefore, CKD international guidelines have not been recently updated. The rigidity and conservative attitude of the guidelines should not prevent the publication of updates in knowledge about certain matters that may be key in detecting CKD and managing patients with this disease. This document, also prepared by 10 scientific associations, provides an update on concepts, clarifications, diagnostic criteria, remission strategies and new treatment options. The evidence and the main studies published on these aspects of CKD have been reviewed. This should be considered more as an information document on CKD. It includes an update on CKD detection, risk factors and screening; a definition of renal progression; an update of remission criteria with new suggestions in the older population; CKD monitoring and prevention strategies; management of associated comorbidities, particularly in diabetes mellitus; roles of the Primary Care physician in CKD management; and what not to do in Nephrology. The aim of the document is to serve as an aid in the multidisciplinary management of the patient with CKD based on current recommendations and knowledge.
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Nefropatías Diabéticas , Nefrología , Insuficiencia Renal Crónica , Consenso , Nefropatías Diabéticas/diagnóstico , Nefropatías Diabéticas/epidemiología , Nefropatías Diabéticas/terapia , Humanos , Insuficiencia Renal Crónica/diagnóstico , Insuficiencia Renal Crónica/epidemiología , Insuficiencia Renal Crónica/terapia , Factores de RiesgoRESUMEN
AIMS: e-consults are asynchronous, clinician-to-clinician exchanges that answer focused, non-urgent, patient-specific questions using the electronic medical record. We instituted an e-consultation programme (2013-2019) for all general practitioners (GPs) referrals to cardiologists that preceded patients' in-person consultations when considered. In our study, we aimed to analyse the clinical characteristics, 1 year prognosis and the prognostic determinants of patients with a previous diagnosis of HF referred for an e-consult, categorized by their previous HF-related hospitalization status (recent hospitalization, <1 year before; remote hospitalization, >1 year before or never been hospitalized because of HF), and to analyse the impact of reducing the time elapsed between e-consultation and response by the cardiologist in terms of prognosis. METHODS AND RESULTS: Epidemiological and clinical data were obtained from 4851 HF patients referred by GPs to the cardiology department for an e-consultation 2013 and 2020. The delay of time to e-consults were solved was 8.6 + 8.6 days with 84.3% solved in <14 days. For the 1 year prognosis evaluation after the e-consult were assessed the cardiovascular hospitalizations, HF-related hospitalizations, HF-related mortality, cardiovascular mortality, and all-cause mortality. Compared with the group without a previous hospitalization, patients with recent and remote HF hospitalization were at higher risk of a new HF-related hospitalization (OR: 19.41 [95% CI: 12.95-29.11]; OR: 8.44 [95% CI: 5.14-13.87], respectively), HF-related mortality (OR: 2.47 [95% CI: 1.43-4.27]; OR: 1.25 [95% CI: 0.51-3.06], respectively), as well as cardiovascular hospitalizations and mortality and all-cause mortality. Reduction in the time elapsed because e-consultation was solved was associated with lower risk of HF-related mortality (OR: 0.94 [95% CI: 0.89-0.99]), cardiovascular mortality (OR: 0.96 [95% CI: 0.93-0.98]), and all-cause mortality (OR: 0.98 [95% CI: 0.97-1.00]). CONCLUSIONS: A clinician-to-clinician e-consultation programme between GPs and cardiologists in patients with HF allows to solve the demand of care in around 25% e-consults without an in-person consultation; the patients with a previous history of HF-related hospitalization showed a worse 1 year outcome. A reduction in the time elapsed because e-consultation was solved was associated with a mortality reduction.
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Insuficiencia Cardíaca , Consulta Remota , Humanos , Insuficiencia Cardíaca/epidemiología , Insuficiencia Cardíaca/terapia , Insuficiencia Cardíaca/diagnóstico , Pronóstico , HospitalizaciónRESUMEN
BACKGROUND: Telemedicine models play a key role in organizing the growing demand for care and healthcare accessibility, but there are no described longer-term results in health care. Our objective is to assess the longer-term results (delay time in care, accessibility, and hospital admissions) of an electronic consultation (e-consultation) outpatient care program. METHODS: Epidemiological and clinical data were obtained from the 41 258 patients referred by primary care to the cardiology department from January 1, 2010, to December 31, 2019. Until 2012, all patients were attended in an in-person consultation (2010-2012). In 2013, we instituted an e-consultation program (2013-2019) for all primary care referrals to cardiologists that preceded patients' in-person consultations when considered. We used an interrupted time series regression approach to investigate the impact of the e-consultation on (1) delay time (days) in care and (2) hospital admissions. We also analyzed (3) total number and referral rate (population-adjusted referred rate) in both periods (in-person consultation and e-consultation), and (4) the accessibility was measured as number of consultations and variation according to distance from municipality and reference hospital. RESULTS: During the e-consultation, the demand increased (7.2±2.4% versus 10.1±4.8% per 1000 inhabitants, P<0.001), and referrals from different areas were equalized. The reduction in delay to consultation during the in-person consultation (-0.96 [95% CI, -0.951 to -0.966], P<0.001) was maintained with e-consultations (-0.064 [95% CI, 0.043-0.085], P<0.001). After the implementation of e-consultation, we observed that the increasing of hospital admission observed in the in-person consultation (incidence rate ratio, 1.011 [95% CI, 1.003-1.018]), was stabilized (incidence rate ratio, 1.000 [95% CI, 0.985-1.015]; P=0.874). CONCLUSIONS: Implementing e-consultations in the outpatient management model may improve accessibility of care for patients furthest from the referral hospital. After e-consultations were implemented, the upward trend of hospital admissions observed during the in-person consultation period was stabilized with a slight downward trend.
Asunto(s)
Servicio de Cardiología en Hospital , Cardiología , Consulta Remota , Atención a la Salud , Humanos , Atención Primaria de Salud , Derivación y ConsultaRESUMEN
INTRODUCTION: Cardiopulmonary exercise test (CPET) allows quantification of functional capacity of patients with Fontan. The objective of this study was to determine the role of CPET parameters in predicting a higher maximum oxygen consumption (VO2 max) and to analyse the role of CPET parameters in predicting an unfavourable outcome. METHODS: A retrospective, cross-sectional, descriptive study was carried out on 57 patients with Fontan, who had undergone incremental CPET with cycloergometer between 2010 and 2020. Determinants of VO2 max and determinants of clinical deterioration were analysed. RESULTS: In the univariate analysis, the variables significantly related to VO2 max were: age, sex, body mass index (BMI), years of Fontan evolution, intracardiac Fontan, oxygen consumption at anaerobic threshold (VO2AT), CO2 equivalents at anaerobic threshold (VE/VCO2) and chronotropic insufficiency. The multiple linear regression model that best fitted the relationship between VO2 max and independent variables (correlation coefficient 0.73) included sex (correlation index 3.35; p = 0.02), BMI (-0.27; p = 0.02), chronotropic failure (-2.79; p = 0.01) and VO2AT (0.92; p < 0.0001). In the univariate analysis of the prognostic CPET variables related to an unfavourable clinical situation, significance was only obtained with chronotropic insufficiency (p = 0.003). In multivariate analysis, chronotropic insufficiency maintains its association [p= 0.017, OR = 4.65 (1.3-16.5)]. CONCLUSIONS: In conclusion, together with the anthropometric parameters universally related to VO2 max, chronotropic insufficiency and VO2AT are the main determinants of functional capacity in patients with Fontan. Moreover, chronotropic insufficiency is closely related to unfavourable clinical evolution. Our data would support the intensive treatment of chronotropic insufficiency in order to improve the quality of life and the clinical situation of patients with Fontan.