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BACKGROUND: Intrasaccular devices provide a method for treating complex aneurysms without leaving metallic materials in the parent artery. Compared to other well-studied devices in neurointervention, the Contour device is relatively new as an intrasaccular flow diverter. This study examines its use in cases of incidental aneurysms and its application in the acute treatment of ruptured aneurysms. Additionally, it covers potential complications that may arise and methods for prevention. METHODS: We conducted a retrospective analysis of 25 patients who underwent treatment with the Contour device at 3 hospital centers. We collected data related to age, gender, baseline modified Rankin Scale, personal habits, medical history, procedure details, and angiographic results according to the Woven endobridge occlusion scale. RESULTS: A total of 15 patients (65.5%) achieved a satisfactory angiographic result (grade 0-0') 1 year after embolization. Contrast stagnation was observed in 14 patients (58.3%). Intraprocedural complications, such as device displacement, were documented in 3 patients (12%), while 2 patients (8%) had aggregates attached to the device. Regarding late complications, 5 patients (20%) experienced device displacement and 1 patient had a minor stroke (4%). Retreatment was necessary for 3 patients (12%), involving a flow diverter, stenting, and coiling. CONCLUSIONS: In summary, the Contour device offers a viable option for treating complex aneurysms. While initial results are promising, it is crucial to acknowledge a learning curve to minimize complications and achieve satisfactory angiographic results without the need for additional treatments.
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Aneurisma Roto , Embolización Terapéutica , Procedimientos Endovasculares , Aneurisma Intracraneal , Humanos , Aneurisma Intracraneal/diagnóstico por imagen , Aneurisma Intracraneal/cirugía , Estudios Retrospectivos , Resultado del Tratamiento , Stents , Aneurisma Roto/diagnóstico por imagen , Aneurisma Roto/cirugía , Embolización Terapéutica/métodos , Angiografía Cerebral , Procedimientos Endovasculares/métodosRESUMEN
Background: In 2016 the National Health Service (NHS) England embraced the commitment to work for maternity services to become safer, more personalized, kinder, professional and more family-friendly. Achieving this involves including a service users' organizations to co-lead and deliver the services. This article explores how Public Narrative, a framework for leadership development used across geographical and cultural settings worldwide, can enhance the confidence, capability and skills of service-user representatives (or Patient Leaders) in the National Health Service (NHS) in England. Specifically, we analyse a pilot initiative conducted with one cohort of Patient Leaders, the Chairs of local Maternity Voices Partnerships (MVPs), and how they have used Public Narrative to enhance their effectiveness in leading transformation in maternity services as part of the NHS Maternity Transformation Programme. Methods: Qualitative two-phase case study of a pilot training and coaching initiative using Public Narrative with a cohort of MVP Chairs. Phase 1 consisted of a 6-month period, during which the standard framework was adapted in co-design with the MVP Chairs. A core MVP Chair Co-Design Group underwent initial training and follow-up coaching in Public Narrative. Phase 2 consisted of qualitative data collection and data analysis. Results: The study of this pilot initiative suggests two main ways in which Public Narrative can enhance the effectiveness of Patient Leaders in service improvement in general and maternity services in specific. First, training and coaching in the Public Narrative framework enables Patient Leaders to gain insight into, articulate and then craft their lived experience of healthcare services in a way that connects with and activates the underlying values of others ("shared purpose"), such that those experiences become an emotional resource on which Patient Leaders can draw to influence future service design and decision-making processes. Second, Public Narrative provides a simple and compelling structure through which Patient Leaders can enhance their skills, confidence and capability as "healthcare leaders," both individually and collectively. Conclusions: The Public Narrative framework can significantly enhance the confidence, capability and skills of Patient Leaders, both to identify and coalesce around shared purpose and to advance genuine co-production in the design and improvement of healthcare services in general and maternity services in specific.
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Liderazgo , Medicina Estatal , Inglaterra , Femenino , Humanos , Embarazo , Investigación CualitativaRESUMEN
Scientific literature presents young people as a vulnerable group at risk of poverty and social exclusion. One of the elements that have the most significant impact on reducing their vulnerability is promoting education. Little is known about how social networks can promote the education of young people. To address this, the present study aims to analyse how social networks, specifically Instagram, which is one of the most used by young people, has promoted, among other aspects, the scientific education of young people during the COVID-19 pandemic. This study analyses 5000 education-related Instagram posts made during the COVID-19 pandemic (March 2021) European research project ALLINTERACT. We have analysed those posts that show, on the one hand, how citizens benefit from scientific research and, on the other hand, citizens' awareness of the impact of scientific research. Through the analysis of the posts, it has been observed how Instagram has been a social network that has provided information and scientific advances in various branches of knowledge, created knowledge networks, and provided a channel for information about the pandemic. Through the analysis of the 5000 posts, it is evident how Instagram has provided spaces for scientific learning, fostering access to scientific education for young people.
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COVID-19 , Medios de Comunicación Sociales , Adolescente , COVID-19/epidemiología , Humanos , Pandemias , SARS-CoV-2 , Red SocialRESUMEN
The purpose of this article is to demonstrate how the Social Impact in Social Media (SISM, hereinafter) methodology applied in psychological research provides evidence for the visibility of the social impact of the research. This article helps researchers become aware of whether and how their improvements are capturing the interest of citizens and how citizens are applying such evidence and obtaining better outcomes, in this case, in relation to well-being. In addition, citizens can access the latest evidence on social media and act as channels of communication between science and social or personal networks and, in doing so, they can improve the living conditions of others. This methodology is also useful for agencies that support researchers in psychology with financial assistance, which can use it to evaluate the social impact of the funds that they invest in research. In this article, the 10 studies on well-being were selected for analysis using the following criteria: their research results led to demonstrable improvement in well-being, and these improvements are presented on social media. We applied the social impact coverage ratio to identify the percentage of the social impact shared in social media in relation to the total amount of social media data collected. Finally, examples of quantitative and qualitative evidence of the social impact of the research on well-being are presented.
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AIM: This study aimed to investigate whether different levels of fasting plasma glucose (FPG) and hemoglobin A1c (HbA1c) in prediabetes are associated with hyperfiltration. METHODS: A prospective cohort of 2,022 individuals aged 30-74 years took part in the PREDAPS Study. One cohort of 1,184 participants with prediabetes and another cohort of 838 participants with normal FPG and normal HbA1c were followed for 5 years. Hyperfiltration was defined as an estimated glomerular filtration rate (eGFR) above the age- and gender-specific 95th percentile for healthy control participants, while hypofiltration was defined as an eGFR below the 5th percentile. The prevalence of hyperfiltration was compared for different levels of prediabetes: level 1 of prediabetes: FPG <100 mg/dL plus HbA1c 5.7-6.0% or FPG 100-109 mg/dL plus HbA1c < 5.7%; level 2 of prediabetes: FPG <100 mg/dL plus HbA1c 6.1-6.4% or FPG 100-109 mg/dL plus HbA1c 5.7-6.0% or FPG 110-125 mg/dL plus HbA1c <5.7% and level 3 of prediabetes: FPG 100-109 mg/dL plus HbA1c 6.1-6.4% or FPG 110-125 mg/dL plus HbA1c 5.7-6.4%. RESULTS: The participants with hyperfiltration were significantly younger, had a higher percentage of active smokers, and lower levels of hemoglobin and less use of ACEIs or ARBs. Only level 3 prediabetes based on FPG 100-109 mg/dL plus HbA1c 6.1-6.4% or FPG 110-125 mg/dL plus HbA1c 5.7-6.4% had a significantly higher odds ratio (OR) of hyperfiltration (OR 1.69 (1.05-2.74); P < 0.001) compared with no prediabetes (FPG < 100 mg/dL and HbA1c < 5.7%) after adjustment for different factors. The odds ratios for different levels of HbA1c alone in prediabetes increased progressively, but not significantly. CONCLUSIONS: Level 3 of prediabetes based on FPG 100-109 mg/dL plus HbA1c 6.1-6.4% or FPG 110-125 mg/dL plus HbA1c 5.7-6.4% had a significantly higher OR of hyperfiltration compared with participants without prediabetes.
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Glucemia/metabolismo , Ayuno/sangre , Tasa de Filtración Glomerular , Hemoglobina Glucada/metabolismo , Estado Prediabético/sangre , Adulto , Anciano , Estudios de Cohortes , Femenino , Humanos , Masculino , Persona de Mediana Edad , Obesidad/sangre , Obesidad/fisiopatología , Oportunidad Relativa , Estado Prediabético/fisiopatología , Insuficiencia Renal Crónica/sangre , Insuficiencia Renal Crónica/fisiopatología , Factores de Riesgo , EspañaRESUMEN
Research in neuroscience is being very fruitful in providing evidence about the influence of social experience in the architecture and functioning of the brain. In so doing, neuroscience is posing new and fascinating research questions to examine in depth the social processes that produce those neural changes. To undertake the task of tackling such research questions, evidence from the social sciences are necessary to better understand how different types of social experiences produce different types of synaptic changes and even modify subcortical brain structures differently. It will be the dialogue between neuroscience, other natural sciences and the social sciences which will advance the scientific understanding of plastic changes in the brain which result from complex social experiences that have been traditionally studied by the social sciences. Socioneuroscience constitutes the arena for such interdisciplinary dialogue and research that can both advance the scientific understanding of the human brain and provide evidence-based solutions to most urgent social problems. Socioneuroscience studies the relations between the human brain and social interactions taking into account knowledge from all social sciences and the natural sciences. Processes of conscious versus unconscious social volition and control is one central area of inquiry in socioneuroscience. In this article, we discuss the dominant coercive discourse in society -which presents males with aggressive attitudes and behaviors as more attractive- as an example of social control of human volition which imprisons many individuals' sexual freedom. However, due to brain plasticity, certain experiences that question such dominant discourse and empty violence from attractiveness open up the possibility for the individual and the society to break free from the neural wiring imposed by the dominant coercive discourse and, in the words of Santiago Ramón y Cajal, be ourselves "the architects of our brain", contributing to overcome violence against women.
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BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) causes the development of renal cysts and leads to a decline in renal function. Limited guidance exists in clinical practice on the use of tolvaptan. A decision algorithm from the European Renal Association-European Dialysis and Transplant Association (ERA-EDTA) Working Groups of Inherited Kidney Disorders and European Renal Best Practice (WGIKD/ERBP) has been proposed to identify candidates for tolvaptan treatment; however, this algorithm has not been assessed in clinical practice. METHODS: Eighteen-month cross-sectional, unicenter, observational study assessing 305 consecutive ADPKD patients. The ERA-EDTA WGIKD/ERBP algorithm with a stepwise approach was used to assess rapid progression (RP). Subsequently, expanded criteria based on the REPRISE trial were applied to evaluate the -impact of extended age (≤55 years) and estimated glomerular filtration rate (eGFR; ≥25 mL/min/1.73 m2). RESULTS: Historical eGFR decline, indicative of RP, was fulfilled in 26% of 73 patients who were candidates for RP assessment, mostly aged 31-55 years. Further tests including ultrasound and MRI measurements of kidney volume plus genetic testing enabled the evaluation of the remaining patients. Overall, 15.7% of patients met the criteria for rapid or likely RP using the algorithm, and the percentage increased to 27% when extending age and eGFR. CONCLUSIONS: The ERA-EDTA WGIKD/ERBP algorithm provides a valuable means of identifying in routine clinical practice patients who may be eligible for treatment with tolvaptan. The impact of a new threshold for age and eGFR may increase the percentage of patients to be treated.
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Antagonistas de los Receptores de Hormonas Antidiuréticas/uso terapéutico , Toma de Decisiones Clínicas/métodos , Selección de Paciente , Riñón Poliquístico Autosómico Dominante/tratamiento farmacológico , Tolvaptán/uso terapéutico , Adulto , Factores de Edad , Algoritmos , Estudios Transversales , Progresión de la Enfermedad , Femenino , Tasa de Filtración Glomerular , Humanos , Riñón/diagnóstico por imagen , Riñón/patología , Riñón/fisiopatología , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Tamaño de los Órganos , Riñón Poliquístico Autosómico Dominante/patología , Valor Predictivo de las Pruebas , Estudios Retrospectivos , UltrasonografíaRESUMEN
BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is the commonest inherited renal disorder; it is defined by progressive renal cyst formation and subsequent renal enlargement that leads to end-stage renal disease. Until recently, only symptomatic treatments for ADPKD existed. However, therapies that address the underlying pathophysiology of ADPKD are now available and accurate identification of the rate of disease progression is essential. SUMMARY: Published data on the different imaging modalities for measuring kidney and cyst volumes in ADPKD are reviewed. The advantages and drawbacks of the different techniques for calculating kidney volume from renal imaging are also examined, including the use of manual planimetry, stereology, and the ellipsoid equation, as well as the prospect of semi- and fully automatic techniques. The translation of these approaches into clinical practice and their role in informing treatment decisions is discussed. Key Messages: These new therapies require the accurate monitoring of disease progression, which along with diagnosis and prognosis, relies on the effective use of renal imaging techniques. There is growing support for the use of total kidney volume as a measure of cyst burden and as a prognostic predictor of renal function in ADPKD, showing promise as a marker of disease progression.
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Fallo Renal Crónico/diagnóstico , Riñón/patología , Riñón Poliquístico Autosómico Dominante/diagnóstico por imagen , Ensayos Clínicos como Asunto , Progresión de la Enfermedad , Humanos , Procesamiento de Imagen Asistido por Computador/métodos , Riñón/diagnóstico por imagen , Riñón/fisiopatología , Fallo Renal Crónico/patología , Fallo Renal Crónico/fisiopatología , Imagen por Resonancia Magnética , Tamaño de los Órganos , Riñón Poliquístico Autosómico Dominante/patología , Riñón Poliquístico Autosómico Dominante/terapia , Valor Predictivo de las Pruebas , Pronóstico , Tomografía Computarizada por Rayos X , UltrasonografíaRESUMEN
The social impact of research has usually been analysed through the scientific outcomes produced under the auspices of the research. The growth of scholarly content in social media and the use of altmetrics by researchers to track their work facilitate the advancement in evaluating the impact of research. However, there is a gap in the identification of evidence of the social impact in terms of what citizens are sharing on their social media platforms. This article applies a social impact in social media methodology (SISM) to identify quantitative and qualitative evidence of the potential or real social impact of research shared on social media, specifically on Twitter and Facebook. We define the social impact coverage ratio (SICOR) to identify the percentage of tweets and Facebook posts providing information about potential or actual social impact in relation to the total amount of social media data found related to specific research projects. We selected 10 projects in different fields of knowledge to calculate the SICOR, and the results indicate that 0.43% of the tweets and Facebook posts collected provide linkages with information about social impact. However, our analysis indicates that some projects have a high percentage (4.98%) and others have no evidence of social impact shared in social media. Examples of quantitative and qualitative evidence of social impact are provided to illustrate these results. A general finding is that novel evidences of social impact of research can be found in social media, becoming relevant platforms for scientists to spread quantitative and qualitative evidence of social impact in social media to capture the interest of citizens. Thus, social media users are showed to be intermediaries making visible and assessing evidence of social impact.
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Investigación , Cambio Social , Medios de Comunicación Sociales , Biología , Comunicación , Genómica , Humanos , Salud Pública , Investigación Cualitativa , Técnicas SociométricasRESUMEN
Background: High incidences of drug consumption and mental health problems are found among the Roma population in Spain, a reality that remains understudied. Past studies have indicated the positive role played by the Iglesia Evangélica Filadelfia (IEF) in promoting rehabilitation and prevention of these practices. Objective: In this article, authors analyze in which ways the IEF favors processes of drug rehabilitation and mental health recovery as well as the prevention of these problems among its Roma members. Methods: A communicative qualitative approach was developed. It was communicative because new knowledge was created by dialogically contrasting the existing state of the art with study participants. It was qualitative because everyday life stories were collected, gathering the experiences, perceptions and interpretations of Roma people who are actively involved in three different IEF churches based in Barcelona. Results: This article identifies these protective factors: anti-drug discourse, a supportive environment, new social relations, role model status, the promotion of interactions, the revaluation of oneself, spiritual activities and the improvement of the feeling of belonging and the creation of meaning. Conclusion: The present research contributes new evidence to the current understanding of the role played by the IEF in improving Roma health status and how the identified protective factors can contribute to rehabilitation and recovery from such problems in other contexts.
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Trastornos Mentales/etnología , Protestantismo/psicología , Religión y Psicología , Romaní/psicología , Adulto , Femenino , Promoción de la Salud/métodos , Humanos , Masculino , Trastornos Mentales/prevención & control , Trastornos Mentales/rehabilitación , Persona de Mediana Edad , Factores Protectores , Investigación Cualitativa , Apoyo Social , España/epidemiología , Trastornos Relacionados con Sustancias/etnología , Trastornos Relacionados con Sustancias/prevención & control , Trastornos Relacionados con Sustancias/rehabilitaciónRESUMEN
Presentamos el caso de un varón de 32 años, con síndrome de genes contiguos TSC2/PKD1, que le ocasiona esclerosis tuberosa (ET) y poliquistosis renal autosómica dominante simultáneamente. Evolucionó a enfermedad renal terminal y se realizó trasplante renal a los 12 años. Los riñones presentaban angiomiolipomas (AML), que son tumores benignos frecuentes en pacientes con ET. A los 17 años postrasplante, presentó un cuadro de dolor abdominal, anemización y hematoma retroperitoneal. Dicho hematoma se produjo por el sangrado de los AML. Como tratamiento se realizó embolización selectiva. Nuestro paciente podría haberse beneficiado en el momento del trasplante renal del tratamiento con inhibidores de mTOR. Este fármaco actúa como inmunosupresor y reductor tumoral en la ET, al disminuir el riesgo de rotura y hemorragia. En este paciente no se administró porque cuando se trasplantó no se conocía la relación de los inhibidores de mTOR con la ET. Este caso confirma que, a pesar de tratarse de pacientes trasplantados o en diálisis, el riesgo de sangrado por los AML persiste, por lo cual se propone realizar controles periódicos de los riñones propios y valorar la nefrectomía (AU)
We report the case of a 32-year-old male diagnosed with TSC2/PKD1 contiguous gene syndrome, presenting with tuberous sclerosis (TS) and autosomal dominant polycystic kidney disease simultaneously. He progressed to end-stage renal disease and received a kidney transplant at the age of 12. The native kidneys presented angiomyolipomas (AML), which are common benign tumours in patients with TS. Seventeen years after transplantation, he presented with abdominal pain, anaemia and a retroperitoneal haematoma, the latter caused by renal AML bleeding. Selective embolisation was performed. Our patient could have benefited from the administration of mTOR inhibitors at transplant. This therapy is immunosuppressive and reduces the size of benign tumours in TS as well as the risk of rupture and bleeding. This patient did not receive mTOR inhibitors at the time of the transplant because the relationship between mTOR inhibitors and TS was unknown at that time. This case confirms the persistent risk of renal AML bleeding for both transplanted patients and patients on dialysis. As a result, we would recommend routine check-ups of native kidneys and nephrectomy assessment (AU)
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Humanos , Masculino , Adulto , Angiomiolipoma/complicaciones , Neoplasias Renales/complicaciones , Síndrome WAGR/complicaciones , Terapia de Reemplazo Renal , Hemorragia/etiología , Diálisis Renal/métodos , Insuficiencia Renal Crónica/terapia , Esclerosis Tuberosa/etiología , Enfermedades Renales Poliquísticas/etiología , Trasplante de RiñónRESUMEN
OBJECTIVE: To perform an extensive clinical and epidemiological characterization of our fibromyalgia patients. PATIENTS, MATERIAL, AND METHOD: Two-year observational study in 3 primary care centers in Terrassa, Spain. We recruited a sample of 235 individuals diagnosed with fibromyalgia being treated in primary care or rheumatology clinics who, when offered inclusion in a multidisciplinary program, agreed to provide the initial data we requested. The main measures were sociodemographic data, unhealthy habits and physical activity, comorbidities, treatment for fibromyalgia, Fibromyalgia Impact Questionnaire (FIQ), Hospital Anxiety and Depression Scale (HADS), and a family functioning scale (family APGAR). MAIN RESULTS: In all, 97.8% were women and the average age was 54.6 years. Most of the patients had a primary school education and the majority was on sick leave. Ninety-four percent had associated comorbidity and only 3% were not taking any medication for their disease. Many were taking drugs with no proven efficacy in fibromyalgia. The majority had intermediate scores on the FIQ, the HADS showed that 63% and 53% had an anxious and/or probable depressive disorder, respectively, and, according to the family APGAR score, 62% received proper family support. CONCLUSIONS: In agreement with the literature, the major findings in our fibromyalgia patients were a marked predominance of women, a high incidence of comorbidities-mainly psychiatric disorders-a moderate impact of the disease and widespread use of drugs with no demonstrated efficacy.
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Fibromialgia , Atención Primaria de Salud , Adulto , Anciano , Comorbilidad , Estudios Transversales , Femenino , Fibromialgia/diagnóstico , Fibromialgia/epidemiología , Fibromialgia/psicología , Fibromialgia/terapia , Humanos , Masculino , Trastornos Mentales/diagnóstico , Trastornos Mentales/epidemiología , Persona de Mediana Edad , Índice de Severidad de la Enfermedad , España/epidemiologíaRESUMEN
We report the case of a 32-year-old male diagnosed with TSC2/PKD1 contiguous gene syndrome, presenting with tuberous sclerosis (TS) and autosomal dominant polycystic kidney disease simultaneously. He progressed to end-stage renal disease and received a kidney transplant at the age of 12. The native kidneys presented angiomyolipomas (AML), which are common benign tumours in patients with TS. Seventeen years after transplantation, he presented with abdominal pain, anaemia and a retroperitoneal haematoma, the latter caused by renal AML bleeding. Selective embolisation was performed. Our patient could have benefited from the administration of mTOR inhibitors at transplant. This therapy is immunosuppressive and reduces the size of benign tumours in TS as well as the risk of rupture and bleeding. This patient did not receive mTOR inhibitors at the time of the transplant because the relationship between mTOR inhibitors and TS was unknown at that time. This case confirms the persistent risk of renal AML bleeding for both transplanted patients and patients on dialysis. As a result, we would recommend routine check-ups of native kidneys and nephrectomy assessment.
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Angiomiolipoma/complicaciones , Hematoma/etiología , Interferón gamma/deficiencia , Enfermedades Renales Quísticas/complicaciones , Neoplasias Renales/complicaciones , Riñón Poliquístico Autosómico Dominante/complicaciones , Canales Catiónicos TRPP/genética , Esclerosis Tuberosa/complicaciones , Proteínas Supresoras de Tumor/genética , Adulto , Angiomiolipoma/diagnóstico por imagen , Angiomiolipoma/genética , Angiomiolipoma/cirugía , Embolización Terapéutica , Hematoma/diagnóstico por imagen , Hematoma/patología , Humanos , Inmunosupresores/uso terapéutico , Interferón gamma/genética , Riñón/diagnóstico por imagen , Riñón/patología , Enfermedades Renales Quísticas/diagnóstico por imagen , Enfermedades Renales Quísticas/genética , Enfermedades Renales Quísticas/cirugía , Neoplasias Renales/diagnóstico por imagen , Neoplasias Renales/genética , Neoplasias Renales/cirugía , Trasplante de Riñón , Masculino , Riñón Poliquístico Autosómico Dominante/genética , Riñón Poliquístico Autosómico Dominante/cirugía , Síndrome , Esclerosis Tuberosa/diagnóstico por imagen , Esclerosis Tuberosa/genética , Esclerosis Tuberosa/cirugía , Proteína 2 del Complejo de la Esclerosis TuberosaRESUMEN
BACKGROUND: Mutations in TSC1 or TSC2 cause the tuberous sclerosis complex (TSC), while mutations in PKD1 or PKD2 cause autosomal dominant polycystic kidney disease (ADPKD). PKD1 lays immediately adjacent to TSC2 and deletions involving both genes, the PKD1/TSC2 contiguous gene syndrome (CGS), are characterized by severe ADPKD, plus TSC. mTOR inhibitors have proven effective in reducing angiomyolipoma (AML) in TSC and total kidney volume in ADPKD but without a positive effect on renal function. METHODS AND RESULTS: We describe a patient with independent truncating PKD1 and TSC2 mutations who has the expected phenotype for both diseases independently instead of the severe one described in PKD1/TSC2-CGS. Treatment with mTOR inhibitors reduced the AML and kidney volume for 2 years but thereafter they resumed growth; no positive effect on renal function was seen throughout. This is the first case addressing the response to mTOR treatment when independent truncating mutations in PKD1 and TSC2 are present. CONCLUSIONS: This case reveals that although PKD1 and TSC2 are adjacent genes and there is likely cross-talk between the PKD1 and TSC2 signalling pathways regulating mTOR, having independent TSC2 and PKD1 mutations can give rise to a milder kidney phenotype than is typical in PKD1/TSC2-CGS cases. A short-term beneficial effect of mTOR inhibition on AML and total kidney volume was not reflected in improved renal function.
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Inhibidores de Proteínas Quinasas/farmacología , Serina-Treonina Quinasas TOR/antagonistas & inhibidores , Canales Catiónicos TRPP/genética , Proteínas Supresoras de Tumor/genética , Adulto , Anciano , Humanos , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Fenotipo , Inhibidores de Proteínas Quinasas/uso terapéutico , Resultado del Tratamiento , Esclerosis Tuberosa/diagnóstico , Esclerosis Tuberosa/tratamiento farmacológico , Esclerosis Tuberosa/genética , Esclerosis Tuberosa/metabolismo , Proteína 2 del Complejo de la Esclerosis TuberosaRESUMEN
BACKGROUND: While the use of plastic materials has generated huge societal benefits, the 'plastic age' comes with downsides: One issue of emerging concern is the accumulation of plastics in the aquatic environment. Here, so-called microplastics (MP), fragments smaller than 5 mm, are of special concern because they can be ingested throughout the food web more readily than larger particles. Focusing on freshwater MP, we briefly review the state of the science to identify gaps of knowledge and deduce research needs. STATE OF THE SCIENCE: Environmental scientists started investigating marine (micro)plastics in the early 2000s. Today, a wealth of studies demonstrates that MP have ubiquitously permeated the marine ecosystem, including the polar regions and the deep sea. MP ingestion has been documented for an increasing number of marine species. However, to date, only few studies investigate their biological effects. The majority of marine plastics are considered to originate from land-based sources, including surface waters. Although they may be important transport pathways of MP, data from freshwater ecosystems is scarce. So far, only few studies provide evidence for the presence of MP in rivers and lakes. Data on MP uptake by freshwater invertebrates and fish is very limited. KNOWLEDGE GAPS: While the research on marine MP is more advanced, there are immense gaps of knowledge regarding freshwater MP. Data on their abundance is fragmentary for large and absent for small surface waters. Likewise, relevant sources and the environmental fate remain to be investigated. Data on the biological effects of MP in freshwater species is completely lacking. The accumulation of other freshwater contaminants on MP is of special interest because ingestion might increase the chemical exposure. Again, data is unavailable on this important issue. CONCLUSIONS: MP represent freshwater contaminants of emerging concern. However, to assess the environmental risk associated with MP, comprehensive data on their abundance, fate, sources, and biological effects in freshwater ecosystems are needed. Establishing such data critically depends on a collaborative effort by environmental scientists from diverse disciplines (chemistry, hydrology, ecotoxicology, etc.) and, unsurprisingly, on the allocation of sufficient public funding.
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Fundamento y objetivo: Los objetivos de este estudio fueron: determinar la prevalencia de la enfermedad renal crónica (ERC) en pacientes con diabetes mellitus tipo 2 (DM2) mediante la estimación del filtrado glomerular (FGe); comprobar los factores asociados a ERC; y en que medida el filtrado glomerular se relaciona con un riesgo aumentado de enfermedad cardiovascular (ECV). Pacientes y método: Estudio observacional retrospectivo transversal. Revisión de una muestra representativa de 500 historias clínicas seleccionada aleatoriamente del listado de 2.950 pacientes con DM2 de nuestra área. Se registraron datos sociodemográaficos, comorbilidades, factores de riesgo cardiovascular, tratamientos farmacológicos y datos analíticos. La ERC se definió como FGe < 60 ml/min/ 1,72m2 y se clasificó en estadios según la K/DOQI Clinical Practice Guidelines for Chronic Kidney Disease. Resultados: El 51,6% eran mujeres y la media de edad era de 66,2 años. Se observó una prevalencia de ERC del 23,2%, con 108 casos (21,6%) en stadio 3 y 8 (1,6%) en estadio 4, sin ningún paciente en estadio 5. Un 70,4% eran hipertensos, un 67% tenían dislipidemia, el 17,6% eran fumadores y el 19% tenían antecedente de ECV (46% de ellos, cardiopatía isquémica). La presencia de ERC se relacionó con más edad, sexo femenino, creatinina plasmática elevada, presencia de microabuminuria y antecedentes de tabaquismoactivo, HTA, dislipidemia y ECV. Al analizar los datos según las categorías de ERC, desaparecía la relación significativa con el tabaquismo. En el análisis multivariado existía relación positiva con edad, sexo femenino, dislipidemia y cardiopatía isquémica. Conclusión: En este estudio se confirma la elevada prevalencia de ERC en pacientes con DM2 y su relación con la presencia de enfermedad cardiovascular (AU)
Background and objective: The aim of this study was: to estimate the prevalence of chronic renal insufficiency (CRI) in diabetic type 2 (DM2) patients treated in Primary Care based on the estimated glomerular filtration rate (GFe); to determine associated factors with CRI, and to evaluate the relationship of GF rate and risk of cardiovascular disease. Patients and methods: This was a descriptive cross-sectional study. We included 500 medical histories randomly selected in a total of 2,950 DM2 patients. We registered sociodemographic data, comorbidities, cardiovascular risk factors and laboratory data. CRI definition was based on GFe rate and classified according to the K/DOQI Clinical Practice Guidelines for Chronic Kidney Disease. Results: The prevalence of CRI was 23.2%. There were 51.6% females and the mean age was 66.2 years; 70,4% had hypertension and 67% dyslipidemia. The presence of CRI was related with older age, females, smoking habit, plasma creatinine value, microalbuminuria, and history of hypert nsion, dyslipidemia and cardiovascular disease. After analysing the data according to the category of GF rate, only the significant relationship with smoking habit disappeared. Multivariate statistic analysis supports a relation with older age, female gender, dyslipidemia and heart disease. Conclusions: We confirm a high prevalence of CRI in DM2 patients and their relationship with the presence of cardiovascular disease (AU)
Asunto(s)
Humanos , Insuficiencia Renal Crónica/complicaciones , Diabetes Mellitus Tipo 2/complicaciones , Tasa de Filtración Glomerular , Factores de Riesgo , Enfermedades Cardiovasculares/epidemiologíaRESUMEN
BACKGROUND AND OBJECTIVE: The aim of this study was: to estimate the prevalence of chronic renal insufficiency (CRI) in diabetic type 2 (DM2) patients treated in Primary Care based on the estimated glomerular filtration rate (GFe); to determine associated factors with CRI, and to evaluate the relationship of GF rate and risk of cardiovascular disease. PATIENTS AND METHODS: This was a descriptive cross-sectional study. We included 500 medical histories randomly selected in a total of 2,950 DM2 patients. We registered sociodemographic data, comorbidities, cardiovascular risk factors and laboratory data. CRI definition was based on GFe rate and classified according to the K/DOQI Clinical Practice Guidelines for Chronic Kidney Disease. RESULTS: The prevalence of CRI was 23.2%. There were 51.6% females and the mean age was 66.2 years; 70,4% had hypertension and 67% dyslipidemia. The presence of CRI was related with older age, females, smoking habit, plasma creatinine value, microalbuminuria, and history of hypertension, dyslipidemia and cardiovascular disease. After analysing the data according to the category of GF rate, only the significant relationship with smoking habit disappeared. Multivariate statistic analysis supports a relation with older age, female gender, dyslipidemia and heart disease. CONCLUSIONS: We confirm a high prevalence of CRI in DM2 patients and their relationship with the presence of cardiovascular disease.
Asunto(s)
Enfermedades Cardiovasculares/epidemiología , Diabetes Mellitus Tipo 2/fisiopatología , Nefropatías Diabéticas/epidemiología , Fallo Renal Crónico/epidemiología , Anciano , Albuminuria/epidemiología , Antropometría , Comorbilidad , Creatinina/sangre , Estudios Transversales , Nefropatías Diabéticas/sangre , Nefropatías Diabéticas/etiología , Nefropatías Diabéticas/fisiopatología , Dislipidemias/epidemiología , Femenino , Tasa de Filtración Glomerular , Humanos , Hipertensión/epidemiología , Fallo Renal Crónico/sangre , Fallo Renal Crónico/etiología , Fallo Renal Crónico/fisiopatología , Masculino , Persona de Mediana Edad , Prevalencia , Estudios Retrospectivos , Factores de Riesgo , Índice de Severidad de la Enfermedad , Fumar/epidemiología , España/epidemiologíaRESUMEN
BACKGROUND: Tuberous sclerosis (TS) is a rare autosomal dominant systemic disease with an estimated prevalence of 1/6000. Renal angiomyolipoma (AML) is a benign tumour with high morbidity frequently present in TS. The aim of the study was to test the effect of rapamycin in reducing the volume of AML in TS. METHODS: Twenty four-month prospective open-label, single arm, unicentre Phases II andIII study. The primary endpoint was to evaluate the effect of treatment on the reduction of at least 50% AML volume from baseline at 24 months. The secondary endpoints were: average tumour reduction, surgical complications, skin lesions and drug safety.The study population comprised 17 patients, aged >10 years who were diagnosed with TS and had ≥1 renal AML >2 cm of diameter and had a serum creatinine < 2mg/dl and urine protein/creatinine ratio < 22.6 mg/mmol. The trial was conducted at Fundació Puigvert. Rapamycin was given to achieve stable plasma levels between 4 and 8 ng/ml. AML volume was estimated using orthogonal measurements by MRI at baseline, 6, 12 and 24 months. RESULTS: Ten out of 17 patients were success responders for the main outcome -58.8%, 95%CI: 32.9% to 81.6%-. After 6 months of therapy, the mean volume decrease was 55.18% (5.01 standard error (SE); p<0.001) and 66.38% (4.41 SE; p<0.001) at year 1. There was no significant decrease between year 1 and 2. According to RECIST criteria, all patients achieved a partial response at year 1 and all but two had already achieved this partial response after 6 months.The main analysis was performed according to the intention-to-treat principle analysis. Tumour volume was analyzed over time by means of mixed models for repeated measurement analysis. We used the baseline tumour volume as a covariate for the absolute change and percentage change from baseline data. The analysis was performed using SAS version 9.2 software, and the level of significance was established at 0.05 (two-sided). CONCLUSIONS: This study show that mTOR inhibitors are a relatively safe, efficacious and less aggressive alternative than currently available options in the management of AML in TS. TRIAL REGISTRATION: EudraCT number: 2007-005978-30, ClinicalTrials.gov number: NCT0121712.
Asunto(s)
Angiomiolipoma/tratamiento farmacológico , Antibióticos Antineoplásicos/uso terapéutico , Sirolimus/uso terapéutico , Esclerosis Tuberosa/complicaciones , Adulto , Angiomiolipoma/complicaciones , Antibióticos Antineoplásicos/efectos adversos , Femenino , Humanos , Masculino , Estudios Prospectivos , Sirolimus/efectos adversos , Resultado del TratamientoRESUMEN
BACKGROUND: Tuberous sclerosis (TS) is a systemic disease, with an autosomal dominant pattern of inheritance caused by mutations in two genes (TSC1 and TSC2) that cause tumours (angiomyolipomas [AML], angiofibromas, astrocytomas). Constant and inadequate proliferation occurring in TS may be blocked by mTOR inhibitors (mammalian target of rapamycin), such as rapamycin. MATERIAL AND METHODS: At present, our study includes 17 patients with TS. All had at least one AML greater than 2cm in diameter diagnosed by MRI. They received rapamycin during 12 months. Plasma levels remained stable between 4-8ng/dl. The AML size was monitored every six months by abdominal MRI. RESULTS: At 12 months of inclusion, MRI indicated a decrease in the size of AML in all patients showing at least a 50% reduction in 82.4% (14/17, 95% CI [56.57%, 96.20%]). The mean percent reduction was 66.3% (95% CI [56.9%, 75.6%], P<.0001). The major side effects observed were: oral aphthous ulcers (5/17); hypertriglyceridemia (3/17); microcytosis and hypochromia (3/17); diarrhea (2/17); acne (1/17); acute pyelonephritis (1/17); and proteinuria (1/17). CONCLUSIONS: These preliminary clinical data suggest that rapamycin can play a beneficial role in the treatment of TS. Our experience in 17 patients treated for 12 months demonstrates safety and efficacy in reducing AML volume.