Utility of Genetic Testing in Patients with Transthyretin Amyloid Cardiomyopathy: A Brief Review.

Transthyretin amyloid cardiomyopathy (ATTR-CM) is an increasingly diagnosed condition. Although wild-type transthyretin amyloidosis (ATTRwt) is the most common ATTR-CM, hereditary transthyretin amyloidosis (ATTRv) may also occur. Currently, genetic testing for transthyretin pathogenic variants is recommended for patients with a confirmed clinical diagnosis of ATTR-CM. In fact, confirmation of this autosomal dominant pathogenic variant prompts genetic counselling and allows early identification of affected relatives. Additionally, in the presence of an ATTR-CM-associated polyneuropathy, specific drugs targeting transthyretin can be used. In this paper, we review the utility of genetic testing for the detection of pathogenic variants among patients harboring ATTR-CM and its impact on the natural history of the disease.

Performance of prognostic scoring systems in elderly patients with acute myeloid leukaemia on intensive chemotherapy: A PETHEMA registry study.

Selection of elderly patients (aged ≥60 years) for intensive chemotherapy treatment of acute myeloblastic leukaemia (AML) remains challenging. Several cooperative groups such as Acute Leukaemia French Association (ALFA), Haematological Oncology Clinical Studies Group (HOCSG) and MD Anderson Cancer Center (MDACC) have developed predictive models to select those patients who can benefit from intensive chemotherapy. Our purpose is to validate and compare these three models in a cohort of patients treated in real-life setting. For this, a total of 1724 elderly AML patients and treated with intensive chemotherapy regimens were identified in the PETHEMA registry. Median age was 67.2 years (range, 60-84,9) and median overall survival [OS] 9 months (95 % confidence interval [CI], 8.2-9.7). Taking into account the ALFA group's model, patients likely to benefit from intensive chemotherapy had longer OS (14 months, 95 % CI 12.3-15.7) than those unlikely to benefit (5 months, 95 % CI 4.1-5.9; p < 0.001). Significant differences in OS were observed between patients with favourable risk (17 months, 95 % CI 13.2-20.7), intermediate risk (11 months, 95 % CI 9.3-12.6) and adverse risk (6 months, 95 % CI 5.1-6.4; p < 0.001) according to the HOCSG model. No significant differences in OS were observed between patients with 0, 1, 2 or ≥3 points according to the MDACC model. However, when patients with ≥1 point were compared with those with 0 points, median OS was significantly longer in the latter [15 months (95 % CI 12.1-17.8) vs 7 (95 % CI 5.7-8.5)]. This retrospective study validates predictive models proposed by the ALFA, HOCSG and MDACC groups in this real-life cohort.

The role of an electronic alert system to detect acute kidney injury in hospitalized patients: DETECT-H Project / Utilidad de un sistema de alerta electrónica para la detección de fracaso renal agudo en pacientes hospitalizados. Proyecto DETECT-HP

BACKGROUND AND AIMS: Acute kidney injury (AKI) is associated with higher mortality and length of stay (LOS) for hospitalized patients. To improve outcomes, an electronic detection system could be a useful tool for early diagnosis. METHODS: A fully automated real-time system for detecting decreased glomerular filtration rate in adult patients was developed in our hospital, DETECT-H project. AKI was established according to KDIGO guidelines. RESULTS: In six months, 1241 alerts from 11,022 admissions were issued. Overall incidence of AKI was 7.7%. Highest AKI stage reached was: stage 1 (49.8%), 2 (24.5%) and 3 (25.8%), in-hospital mortality was 10.9%, 22.7%, 33.9% respectively and 57.1% in AKI requiring dialysis; mortality in stable CKD was 4.3%. Median LOS was 8 days versus 5 days for all patients. AKI was associated with a mortality of 3.18 (95% CI 1.80-5.59) and a LOS 1.52 (1.11-2.08) times as high as that for admissions without AKI. Multivariate analysis indicated that a LOS higher than 8 days was associated with AKI. Previous CKD was noted in 31.9% and AKI in 45.3% at discharge. As compared to the use of the detect system, only one third of CKD patients and half of AKI episodes were identified. CONCLUSIONS: CKD and in-hospital AKI are under-recognized entities. Mortality and LOS are increased in-hospital patients with renal dysfunction. AKI severity was associated with higher mortality and LOS. An automated electronic detection system for identifying renal dysfunction would be a useful tool to improve renal outcomes

INTRODUCCIÓN Y OBJETIVOS: El fracaso renal agudo (FRA) aumenta la mortalidad y la estancia hospitalarias (EH). El empleo de sistemas de detección electrónica podría ser una herramienta beneficiosa para mejorar estos resultados. MÉTODOS: Se desarrolló un sistema de detección automático a tiempo real de pacientes ingresados con función renal alterada, denominado proyecto DETECT-H. El FRA se estableció de acuerdo con las guías KDIGO. RESULTADOS: En 6 meses, 1.241 alertas fueron recogidas de 11.022 ingresos. La incidencia global del FRA fue del 7,7%. La distribución en función del estadio máximo del FRA alcanzado fue: estadio 1: 49,8%, estadio 2: 24,5% y estadio 3: 25,8%; con una mortalidad hospitalaria del 10,9, 22,7 y 33,9%, respectivamente. En el caso del FRA con necesidad de diálisis fue del 57,1%. La mortalidad en pacientes con enfermedad renal crónica (ERC) estable fue del 4,3%. La mediana de EH en pacientes detectados fue 8 vs. 5 días para todos los pacientes hospitalizados. El FRA se asoció con una mortalidad 3,18 (1,8-5,59) y una EH 1,52 (1,11-2,08) veces superior que aquellos ingresos sin FRA. El análisis multivariante indicó que el FRA se asociaba con la EH > 8 días. En los informes de alta, la presencia de ERC previa solo fue registrada en el 31,9% de los pacientes con ERC y el FRA hospitalario en el 45,3%. Conclusiones : La ERC y el FRA intrahospitalario son entidades infradiagnosticadas. La mortalidad y la EH están aumentadas en pacientes con disfunción renal. La gravedad del FRA se asoció con mayor mortalidad y EH. Un sistema de detección automático para identificarlos podría ser útil para mejorar estos resultados

The role of an electronic alert system to detect acute kidney injury in hospitalized patients: DETECT-H Project.

BACKGROUND AND AIMS: Acute kidney injury (AKI) is associated with higher mortality and length of stay (LOS) for hospitalized patients. To improve outcomes, an electronic detection system could be a useful tool for early diagnosis. METHODS: A fully automated real-time system for detecting decreased glomerular filtration rate in adult patients was developed in our hospital, DETECT-H project. AKI was established according to KDIGO guidelines. RESULTS: In six months, 1241 alerts from 11,022 admissions were issued. Overall incidence of AKI was 7.7%. Highest AKI stage reached was: stage 1 (49.8%), 2 (24.5%) and 3 (25.8%), in-hospital mortality was 10.9%, 22.7%, 33.9% respectively and 57.1% in AKI requiring dialysis; mortality in stable CKD was 4.3%. Median LOS was 8 days versus 5 days for all patients. AKI was associated with a mortality of 3.18 (95% CI 1.80-5.59) and a LOS 1.52 (1.11-2.08) times as high as that for admissions without AKI. Multivariate analysis indicated that a LOS higher than 8 days was associated with AKI. Previous CKD was noted in 31.9% and AKI in 45.3% at discharge. As compared to the use of the detect system, only one third of CKD patients and half of AKI episodes were identified. CONCLUSIONS: CKD and in-hospital AKI are under-recognized entities. Mortality and LOS are increased in-hospital patients with renal dysfunction. AKI severity was associated with higher mortality and LOS. An automated electronic detection system for identifying renal dysfunction would be a useful tool to improve renal outcomes.