Patient's self-reported quality of life as a prognostic factor in metastatic renal cell carcinoma initially treated with TKI: nomogram proposal.

BACKGROUND: Numerous prognostic factors have been described for metastatic renal cell carcinoma (mRCC). There are nomograms to assist in clinical decision-making and inform patients of their disease progression. However, they have a limited capacity and moderate concordance rates. Performance status (PS) is one of the most widely used prognostic factors and most closely related to overall survival (OS), but this is a subjective assessment based solely on the clinician's opinion. Patients must be at the center of care. Patient-reported outcomes (PROs) have shown benefits but are not widespread in daily clinical practice. METHODS: We analyzed 78 consecutive patients diagnosed with mRCC who initiated treatment at our institution between September 2012 and September 2019. We performed a descriptive analysis of the sample's baseline characteristics and the NCCN FKSI 19 questionnaire. We also conducted a survival analysis. RESULTS: The baseline FKSI 19 score demonstrates its prognostic potential, HR of 0.94 (95% CI 0.92-0.97). Our prognostic model would include: FKSI < 58 (HR 3.61 95% CI 1.97-6.61), anemia, thrombocytosis, non-clear cell histology, and metastatic hepatic involvement. AUC 0.86 (95%CI 0.77-0.95). CONCLUSION: Although it would need external validation, the proposed nomogram could be an alternative to other previously described models. The NCCN FKSI 19 baseline score could replace the clinician's subjective determination of PS. CLINICAL TRIAL REGISTRATION: Not applicable.

Sexualized Drug Use and Chemsex among Men Who Have Sex with Men in Europe: A Systematic Review and Meta-Analysis.

Background: In recent years, in Europe, there has been a growing concern about the use of sexualized drugs among men who have sex with men (MSM), due to its possible link to an increase in sexually transmitted infections. The aim of this review is to study the prevalence of chemsex, and the sexualized drug used in Europe, describing both different consumption patterns and other sexual behaviors considered risky and their possible relationship with positivity in diagnoses of sexually transmitted infections, including human immunodeficiency virus. Methods: We conducted a literature review in the main scientific databases (PubMed, Embase, Scopus, Cochrane Library, Web of Science), filtering for articles published between January 2018 and April 2023 that collect information on sexualized drug use and sexual practices conducted in European countries among men who have sex with men, including whether these behaviors can lead to diagnoses of sexually transmitted infections. Results: The definition of drugs included in chemsex is not clearly defined and shows heterogeneity between study publications; the three drugs presented in all manuscripts are mephedrone, GHB/GBL, and crystal methamphetamine. The prevalence of chemsex in Europe is 16% [11-21%] among MSM. The most frequent risky sexual behavior associated with chemsex practice was unprotected sex with a high number of partners. The log risk ratio of STIs was 0.86 (95% CI: 0.49 to 1.23). Conclusions: Adherence to definitions, stringent research methodologies, and focused interventions are needed to tackle the intricate relationship between substance use, sexual behavior, and the risk of HIV/STI transmission in MSM.

Influential Social Determinants of Adherence to Preventive and Health Promotion Activities during Pregnancy and the First Year of Life: Systematic Review.

Effective monitoring throughout pregnancy and the first year of life is a crucial factor in achieving lower rates of maternal and infant mortality. Currently, research on socioeconomic factors that influence the lack of adherence to preventive and control measures during pregnancy and the first year of life is limited. The objective of this review is to examine the available evidence on social determinants that influence participation in health promotion and preventive activities throughout the pregnancy journey and in infants during their first year of life. We performed a systematic review of the literature searching in the major scientific databases (PubMed, Scopus, EMBASE, WOS, and Cochrane Library) for articles from February 2017 to May 2023 containing information on health inequities that impact participation in health promotion and preventive measures from pregnancy through the first year of an infant's life. A total of 12 studies were selected; these studies were performed in ten different countries on five different continents. The selected studies cover preventive measures during maternal care, vaccination, and immunization during pregnancy and the first year of life, newborn screening, and follow-up of the first 12 months of life. The social factors associated with low adherence to health promotion activities during pregnancy and the first year of life include education, income, ethnicity, place of residence, and family characteristics. Despite the diverse geographical distribution, it is observed that there are common social factors linked to a decrease in the adherence to preventive measures during pregnancy and in the early years of life.

Risk Factors and Environmental Preventive Actions for Aspergillosis in Patients with Hematological Malignancies.

(1) Background: Aspergillus spp. is a widely distributed filamentous fungus in the environment due to its high sporulation capacity. Currently, invasive aspergillosis (IA) is the most common invasive fungal infection in patients with hematologic malignancies, with high rates of mortality and morbidity. The multifactorial nature of the disease requires appropriate risk stratification to enable the most appropriate preventive measures to be adapted and implemented according to the characteristics of the patient. In this sense, the present research aims to identify recent risk factors and environmental control measures against invasive aspergillosis to establish preventive actions to reduce the incidence of invasive aspergillosis in hospitals. (2) Methods: We conducted a qualitative systematic review of the scientific literature on environmental risk factors and preventive measures for invasive aspergillosis in patients with hematologic malignancies. The Medline, Cochrane, and Scopus databases were consulted, following the PRISMA and STROBE guidelines. (3) Results: Adequate implementation of environmental control measures is presented as the most efficient intervention in terms of prevention to decrease the incidence of invasive aspergillosis in hospitals. Neutropenia, fungal contamination, insufficient environmental control measures in hospital and home settings, length of hospital stay, and anemia, are identified as independent risk factors. We show that HEPA, LAF, and Plasmair® systems are suitable methods to reduce the concentration of airborne fungal spores. Antifungal prophylaxis did not significantly influence IA reduction in our study. (4) Conclusions: Proper professional training and environmental control measures in hospitals are essential for the prevention of invasive aspergillosis. We should optimize risk stratification for patients with hematologic malignancies. Antifungal prophylaxis should be complementary to environmental control measures and should never be substituted for the latter. Studies should also be undertaken to evaluate the efficiency of environmental control measures against IA at patients' homes.

Next-generation sequencing of uveal melanoma with clinical and histological correlations: Prognostic value of new mutations in the PI3K/AKT/mTOR pathway.

BACKGROUND: Uveal melanoma (UM) is the eye's most common primary malignancy and there are no effective therapies for disseminated disease. It is important to try to know the patient's prognosis. The aim of this study was to reflect genetic variants, studied using NGS, of a series of 69 cases of UM and its correlation with histopathology and clinical progression. METHODS: We performed targeted NGS using a 519-gene panel. RESULTS: There were selected 28 different mutated genes, showing a total of 231 genetic variants that affected the function of the protein. The most common secondary mutations occurred in SF3B1 (in 26%), followed by BAP1 (in 23%), LRP1B (22%) and FGFR4 (20%). BAP1 mutation was associated with a greater likelihood of metastases and with greater presence of epithelioid cells. LRP1B was also associated with presence of epithelioid cells SF3B1 mutation was significantly associated with a spindle morphology. We found variants in the RAD51B, TOP2A, PTPRD, TSC2, DHX9, PDK1 and MTOR that have not been previously reported in consulted databases. The presence of a mutation in: CHEK2, DHX9 and PDK1 was associated with metastases. CONCLUSIONS: BAP1 is the most solid biomarker of a poor prognosis in UM and mutations can be detected using NGS. SF3B1 is associated with the spindle cell subtype of UM, which gives it probably a favourable prognostic value. Our study suggests that mutations in DHX9 and PDK1 can have prognostic value. These potential biomarkers are related to the PI3K/AKT/mTOR pathway and makes them candidates for developing new directed therapies.

Presenteeism and mental health of workers during the COVID-19 pandemic: a systematic review.

Background: A large number of workers attend work despite being ill. Attending work during sickness can have a number of consequences for the worker (e.g., worsening of physical and mental condition), for co-workers, and for the company, and for service users. Objectives: The aim of this study was to assess the factors influencing presenteeism and mental health of workers during the COVID-19 pandemic. Methods: A systematic review following the PRISMA format was conducted in the PubMed, Scopus, Web of Science (WoS), Cumulative Index to Nursing and Allied Health Literature (CINAHL), PsycInfo, and ScienceDirect electronic databases in January 2023, using the following key words: Presenteeism, Mental Health, and COVID-19. The eligibility criteria applied were original articles published in English, Spanish, French, German, and Portuguese, workers during the COVID-19 pandemic (data collection date: January 01, 2020 - January 01, 2023), and articles assessing at least one measure of presenteeism and mental health status. Methodological quality was assessed using the critical appraisal tools of the Joanna Briggs Institute. The followed protocol is listed in the International Prospective Register of Systematic Reviews (PROSPERO) with code CRD42023391409. Results: A total of 25 studies were included in this review recruiting a total of 164,274 participants. A number of factors influencing mental health and sickness presenteeism were identified: (1) mental health-related factors (burnout [in 4 studies], stress [in 9 studies], depression [in 1 study], fear of COVID-19 [in 1 study], no well-being [in 2 studies], etc.); (2) individual factors (health status [in 1 study], being young [in 1 study], workers who experienced interrupted medical care [in 2 studies], having a chronic disease [in 1 study], etc.); (3) factors related to the situation caused by COVID-19 (confinement, symptoms, loss of contract, risk of bankruptcy, etc. [in 1 study each one]); and (4) factors derived from working conditions (organisational support [in 1 study], patient care [in 1 study], work functioning or task performance impairment [in 4 studies], work fatigue [in 2 studies], safety climate [in 1 study], workload [in 1 study], etc.). Conclusion: Identifying the key determinants of presenteeism and understanding the phenomena and origins of sickness presenteeism will help to create a safe working environment and optimal organisational systems to protect vulnerable workers in a pandemic context. Systematic review registration: The unique identifier is CRD42023391409.

Development of a Novel Prediction Model for Red Blood Cell Transfusion Risk in Cardiac Surgery.

BACKGROUND: Cardiac surgery is a complex and invasive procedure that often requires blood transfusions to replace the blood lost during surgery. Blood products are a scarce and expensive resource. Therefore, it is essential to develop a standardized approach to determine the need for blood transfusions in cardiac surgery. The main objective of our study is to develop a simple prediction model for determining the risk of red blood cell transfusion in cardiac surgery. METHODS: Retrospective cohorts of adult patients who underwent cardiac surgery between 2017 and 2019 were studied to identify hypothetical predictors of blood transfusion. Finally, a multivariable logistic regression model was developed to predict the risk of transfusion in cardiac surgery using the AUC and the Hosmer-Lemeshow goodness-of-fit test. RESULTS: We included 1234 patients who underwent cardiac surgery. Of the entire cohort, 875 patients underwent a cardiac procedure 69.4% [CI 95% (66.8%; 72.0%)]; 119 patients 9.6% [CI 95% (8.1%; 11.4%)] underwent a combined procedure, and 258 patients 20.9% [CI 95% (18.7; 23.2)] underwent other cardiac procedures. The median perioperative hemoglobin was 13.0 mg/dL IQR (11.7; 14.2). The factors associated with the risk of transfusion were age > 60 years OR 1.37 CI 95% (1.02; 1.83); sex female OR 1.67 CI 95% (1.24; 2.24); BMI > 30 OR 1.46 (1.10; 1.93); perioperative hemoglobin < 14 OR 2.11 to 51.41 and combined surgery OR 3.97 CI 95% (2.19; 7.17). The final model shows an AUC of 80.9% for the transfusion risk prediction [IC 95% (78.5-83.3%)]; p < 0.001]. CONCLUSIONS: We have developed a model with good discriminatory ability, which is more parsimonious and efficient than other models.

Dynamic Changes in Non-Invasive Markers of Liver Fibrosis Are Predictors of Liver Events after SVR in HCV Patients.

Objectives: The course of progressive liver damage after achieving sustained virological response (SVR) with direct-acting antivirals (DAAs) remains undetermined. We aimed to determine risk factors associated with the development of liver-related events (LREs) after SVR, focusing on the utility of non-invasive markers. Methods: An observational, retrospective study that included patients with advanced chronic liver disease (ACLD) caused by hepatitis C virus (HCV), who achieved SVR with DAAs between 2014 and 2017. Patients were followed-up until December 2020. LREs were defined as the development of portal hypertension decompensation and the occurrence of hepatocellular carcinoma (HCC). Serological markers of fibrosis were calculated before treatment and one and two years after SVR. Results: The study included 321 patients, with a median follow-up of 48 months. LREs occurred in 13.7% of patients (10% portal hypertension decompensation and 3.7% HCC). Child-Pugh [HR 4.13 (CI 95% 1.74; 9.81)], baseline FIB-4 [HR 1.12 (CI 95% 1.03; 1.21)], FIB-4 one year post-SVR [HR 1.31 (CI 95% 1.15; 1.48)] and FIB-4 two years post-SVR [HR 1.42 (CI 95% 1.23; 1.64)] were associated with portal hypertension decompensation. Older age, genotype 3, diabetes mellitus and FIB-4 before and after SVR were associated with the development of HCC. FIB-4 cut-off values one and two years post-SVR to predict portal hypertension decompensation were 2.03 and 2.21, respectively, and to predict HCC were 2.42 and 2.70, respectively. Conclusions: HCV patients with ACLD remain at risk of developing liver complications after having achieved SVR. FIB-4 evaluation before and after SVR may help to predict this risk, selecting patients who will benefit from surveillance.

Prognosis Factors of Patients Undergoing Renal Replacement Therapy.

BACKGROUND: Survival in patients with end-stage kidney disease (ESKD) on renal replacement therapy (RRT) is less than that of the general population of the same age, and depends on patient factors, the medical care received, and the type of RRT used. The objective of this study is to analyze the factors associated with survival in patients undergoing RRT. METHODS: We conducted a retrospective observational study of adult patients with an incident of ESKD on RRT in Andalusia from 1 January 2008 to 31 December 2018. Patient characteristics, nephrological care received, and survival from the beginning of RRT were evaluated. A survival model for the patient was developed according to the variables studied. RESULTS: A total of 11,551 patients were included. Median survival was 6.8 years (95% CI (6.6; 7.0)). After starting RRT, survival at one year and five years was 88.7% (95% CI (88.1; 89.3)) and 59.4% (95% CI (58.4; 60.4)), respectively. Age, initial comorbidity, diabetic nephropathy, and a venous catheter were independent risk factors. However, non-urgent initiation of RRT and follow-up in consultations for more than six months had a protective effect. It was identified that renal transplantation (RT) was the most influential independent factor in patient survival, with a risk ratio of 0.13 (95% CI (0.11; 0.14)). CONCLUSIONS: The receiving of a kidney transplant was the most beneficial modifiable factor in the survival of incident patients on RRT. We consider that the mortality of the renal replacement treatment should be adjusted, taking into account both modifiable and nonmodifiable factors to achieve a more precise and comparable interpretation.

Effectiveness and Safety of Cannabinoids as an Add-On Therapy in the Treatment of Resistant Spasticity in Multiple Sclerosis: A Systematic Review.

Background: Spasticity continues to be a very prevalent, highly invalidating, and difficult-to-manage symptom in patients with multiple sclerosis (MS). The aim of this systematic review is to evaluate the effectiveness of the use of cannabis and cannabinoids in these patients, evaluating its use as an additional therapy. Methods: We performed a systematic review of the literature searching in the major scientific databases (PubMed, Scopus, EMBASE, WOS, and Cochrane Library) for articles from January 2017 to May 2022 containing information about the effectiveness of cannabis and cannabinoids in patients with insufficient response to first-line oral antispastic treatment. Results: A total of five medium high-quality articles were selected to be part of the study and all evaluated the effectiveness of the tetrahydrocannabinol (THC) and cannabidiol (CBD) spray. The effectiveness of this drug and the significant improvements are produced on the patient-related spasticity assessment scales, obtaining improvement up to 45%; and on quality of life, producing a decrease in the appearance of symptoms related to spasticity, as well as an increase in the development of basic activities of daily living. The average dose is 5-7 sprays/day. The discontinuation rate for these treatments is around 40% due to lack of effectiveness and adverse events. All reported adverse effects are mild to moderate in severity and their incidence is ∼17%, although this figure tends to decrease with drug use. Conclusions: Adding the THC:CBD sprays have been shown to be more effective in treating MS spasticity than optimizing the dose of first-line antispastic drugs in selected responders patients. The safety and tolerability profiles remain in line with those obtained in other trials. More patients would benefit from treatment if the initial response search period was extended.

Survival Analysis in Patients with Laryngeal Cancer: A Retrospective Cohort Study.

INTRODUCTION: The worldwide incidence rate of laryngeal cancer is declining. However, the 5-year survival for these patients has decreased in recent years from 66% to 63%. This may be due to changes in the treatment of the disease. The present study aimed to evaluate the survival rate of patients with LC according to the stage of the disease and the treatment applied. For this purpose, surgical versus organ preservation protocols (OPP) based on chemoradiotherapy were evaluated. METHODS: A retrospective cohort study was conducted in a tertiary hospital. The study included adult patients with a clinical diagnosis of primary LC. Patients with LC and systemic metastases and those with synchronous tumors at diagnosis were excluded. Univariate and multivariate analyses were performed to determine the association between exposure to LC treatment and the time to event (death). Overall survival (OS), cause-specific survival (CSS), and disease-free survival (DFS) were calculated. RESULTS: Patients with advanced tumors (stages III and IV) had almost three times the risk of LC death than those in the initial tumor stages (I and II) [HR CCS = 2.89 (95%CI 1.30-6.39)]; [HR OS = 2.01 (95%CI 1.35-2.98)]. Patients who underwent surgical treatment had a higher chance of survival than those who were treated according to OPP [HR = 0.62; 95%CI (0.38-1.02)] in CSS, 0.74 [95%CI (0.50-1.90)] in OS, and 0.61 [95%CI (0.40-0.91)] in DFS. DISCUSSION: OPP changed the management of patients with advanced stages of LC, establishing CRT as an alternative to surgery. Our data did not reveal clinically relevant differences in OS between patients treated with OPP and those who underwent surgery; however, we reported differences in the DFS rate after five years of follow-up in favor of the surgery-treated group of patients. CONCLUSION: Surgical treatment improves CSS and DFS at five years in patients with initial LC with respect to radiation therapy alone. Furthermore, surgical treatment associated with complementary radiation therapy offers better CSS and DFS in patients with advanced LC.

Utility of pulmonary echography with a handheld ultrasound device in patients with acute coronary syndrome.

The objectives of this study are to establish the usefulness of lung ultrasound with a handheld device to predict the risk of developing heart failure with the need for mechanical ventilation (MV) in acute coronary syndrome (ACS). This is a prospective study of consecutive patients admitted because of ACS-type myocardial infarction, without data of HF at admission in a tertiary hospital, between February 2017 and February 2018. Lung ultrasounds were performed with a handheld cardiologic device in the first 24 h, and defined as echo-positive (PE+) when exams revealed 3 or more B-lines in 2 or more bilateral quadrants. We related this finding to the need for MV during admission. We included 119 patients (65.1 ± 12.8 year; 75.6% male, 24.4% female; 87.4% in Killip class I, 12.6% in Killip class II). Pulmonary echography was positive (PE+) in 21 patients (17.6%). The sensitivity of PE+ to predict MV was 93.3%, the specificity 93.3%, and the area under the curve 0.93. In Cox regression analysis adjusted by CRUSADE score and Killip class, PE+ patients had a hazard ratio of 64.55 (CI 7.87; 529.25, p < 0.001) of needing MV. PE+ was associated with more frequent use of inotropes and mortality. Pulmonary ultrasonography with a handheld echocardiograph was predictive of severe heart failure and the need for mechanical ventilation in ACS with high specificity and sensitivity.

Immunomodulation of Oxidative Stress during Organ Donation Process: Preliminary Results.

The objective was to quantify oxidative stress resulting from ischemia during the donation process, using malondialdehyde (MDA) measurement, and its modulation by the administration of melatonin. We designed a triple-blind clinical trial with donors randomized to melatonin or placebo. We collected donors by donation after brain death (DBD) and controlled donation after circulatory death (DCD), the latter maintained by normothermic regional perfusion (NRP). Melatonin or placebo was administered prior to donation or following limitation of therapeutic effort (LTE). Demographic variables and medical history were collected. We also collected serial measurements of MDA, at 60 and 90 min after melatonin or placebo administration. A total of 53 donors were included (32 from DBD and 21 from DCD). In the DBD group, 17 donors received melatonin, and 15 placebo. Eight DCD donors were randomized to melatonin and 13 to placebo. Medical history and cause for LTE were similar between groups. Although MDA values did not differ in the DBD group, statistical differences were observed in DCD donors during the 0-60 min interval: -4.296 (-6.752; -2.336) in the melatonin group and -1.612 (-2.886; -0.7445) in controls. Given the antioxidant effect of melatonin, its use could reduce the production of oxidative stress in controlled DCD.

Emergencias y redes sociales: ¿amigo o enemigo? / Emergency medicine and social media - friends or foes?

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[Diagnostic delay in rare diseases: systematic review.] / Retraso diagnóstico en enfermedades raras: revisión sistemática.

BACKGROUND: The aims of the International Consortium for Rare Diseases Research (IRDiRC) include that the diagnosis of a known rare disease (RD) must be made within a year. The objective of this systematic review was to identify the scientific evidence about the time to diagnosis in patients affected by RDs and also to know if there is a diagnostic delay (more than one year) according to the objective set by the IRDiRC. METHODS: A systematic review was carried out according to PRISMA criteria in the PubMed, Scopus and Web of Science (WoS) databases. The quality of the articles was assessed using the STROBE statement. RESULTS: 17 articles were included. They were devoted to specific RDs, most of them metabolic diseases, neurological and disorders that affect immunity. The study designs were mainly cross-sectional, and two retrospective cohorts were also included. Most articles showed that it takes more than a year to get a diagnosis for these RDs. CONCLUSIONS: Scientific literature quantifying the time to diagnosis is still scarce and no study addresses RDs as a whole. In most cases, it takes more than one year to obtain a diagnosis of a RD, so there is an obvious delay according to the objective set by the IRDiRC. Therefore, new advances in the RD field are necessary to reduce the time from the onset of symptoms to the accurate diagnosis.

OBJETIVO: Según el Consorcio Internacional para la Investigación de Enfermedades Raras (IRDiRC) el diagnóstico de una enfermedad rara (ER) conocida debería hacerse en el plazo de un año. El objetivo de esta revisión sistemática fue identificar las evidencias científicas sobre el tiempo que transcurre hasta obtener el diagnóstico en pacientes con ER y conocer si se produce retraso, conforme al objetivo del IRDiRC (más de un año). METODOS: Se realizó una revisión sistemática según criterios PRISMA en las bases de datos PubMed, Scopus y Web of Science (WoS). Se valoró la calidad de los estudios incluidos conforme a la declaración STROBE. RESULTADOS: Se incluyeron 17 artículos orientados a ER específicas, principalmente metabólicas, neurológicas y trastornos que afectan a la inmunidad. Los diseños fueron fundamentalmente transversales, aunque también se incluyeron dos de cohorte retrospectivos. La mayoría de los estudios reflejan que se emplea más de un año en obtener el diagnóstico de estas ER. CONCLUSIONES: La literatura científica que cuantifica el tiempo hasta el diagnóstico en ER es aún escasa y ningún estudio se orienta a estas enfermedades en su conjunto. Según el objetivo del IRDiRC, existe un evidente retraso en el diagnóstico de ER, ya que en la mayoría de los casos se requiere de un tiempo superior a un año. Por tanto, son necesarios nuevos avances en campo de las ER para contribuir a la reducción del tiempo desde la aparición de los síntomas hasta el diagnóstico adecuado.

Retraso diagnóstico en enfermedades raras: revisión sistemática / Diagnostic delay in rare diseases: systematic review

Fundamentos: Según el Consorcio Internacional para la Investigación de Enfermedades Raras (IRDiRC) el diagnóstico de una enfermedad rara (ER) conocida debería hacerse en el plazo de un año. El objetivo de esta revisión sistemática fue identificar las evidencias científicas sobre el tiempo que transcurre hasta obtener el diagnóstico en pacientes con ER y conocer si se produce retraso, conforme al objetivo del IRDiRC (más de un año). Métodos: Se realizó una revisión sistemática según criterios PRISMA en las bases de datos PubMed, Scopus y Web of Science (WoS). Se valoró la calidad de los estudios incluidos conforme a la declaración STROBE. Resultados: Se incluyeron 17 artículos orientados a ER específicas, principalmente metabólicas, neurológicas y trastornos que afectan a la inmunidad. Los diseños fueron fundamentalmente transversales, aunque también se incluyeron dos de cohorte retrospectivos. La mayoría de los estudios reflejan que se emplea más de un año en obtener el diagnóstico de estas ER. Conclusiones: La literatura científica que cuantifica el tiempo hasta el diagnóstico en ER es aún escasa y ningún estudio se orienta a estas enfermedades en su conjunto. Según el objetivo del IRDiRC, existe un evidente retraso en el diagnóstico de ER, ya que en la mayoría de los casos se requiere de un tiempo superior a un año. Por tanto, son necesarios nuevos avances en campo de las ER para contribuir a la reducción del tiempo desde la aparición de los síntomas hasta el diagnóstico adecuado.(AU)

Background: The aims of the International Consortium for Rare Diseases Research (IRDiRC) include that the diagnosis of a known rare disease (RD) must be made within a year. The objective of this systematic review was to identify the scientific evidence about the time to diagnosis in patients affected by RDs and also to know if there is a diagnostic delay (more than one year) according to the objective set by the IRDiRC. Methods: A systematic review was carried out according to PRISMA criteria in the PubMed, Scopus and Web of Science (WoS) databases. The quality of the articles was assessed using the STROBE statement. Results: 17 articles were included. They were devoted to specific RDs, most of them metabolic diseases, neurological and disorders that affect immunity. The study designs were mainly cross-sectional, and two retrospective cohorts were also included. Most articles showed that it takes more than a year to get a diagnosis for these RDs. Conclusions: Scientific literature quantifying the time to diagnosis is still scarce and no study addresses RDs as a whole. In most cases, it takes more than one year to obtain a diagnosis of a RD, so there is an obvious delay accordingto the objective set by the IRDiRC. Therefore, new advances in the RD field are necessary to reduce the time from the onset of symptoms to the accurate diagnosis.(AU)

Effectiveness Factors of Organ Donation in Andalusia.

OBJECTIVES: Donation effectiveness is one of the most important factors for the sustainability of the donation transplant process. The aim of this study was to characterize and identify hypothetical factors associated with effective donation (at least one organ transplanted) in the Andalusian population. METHOD: Cross-sectional descriptive observational study of a sample of 4144 potential organ donors registered in the Andalusian Information System of Transplant from January 2006 to December 2018. Donors were categorized according to the result of the donation and analyzed depending their effectiveness. RESULTS: The Andalusian donors were mainly men (60%) and were between 55 and 75 years of age (47.6%). The majority died of brain death (87.45%) caused by a cerebrovascular accident (63.5%). They had cardiovascular risk factors such as hypertension (38.3%), diabetes mellitus (14.8%), dyslipidemia (11.1%), smoking (20.4%), and overweight with a median body mass index of 27.1 kg/m2 (IQR, 24.6-29.4). Effective donor rate was 84.5%. Increasing age, diabetes mellitus, increasing body mass index, and the presence of antibodies against hepatitis C virus were hypothetical predictors of an ineffective donation. CONCLUSIONS: In view of our results, we can say that the Andalusian donor population has a high effectiveness rate, presenting hypothetical factors that could allow one to predict the outcome of an effective donation.