Portuguese‐type amyloidosis (transthyretin amyloidosis, ATTR V30M).

J Nephrol. 2003 May-Jun;16(3):438-42. Portuguese-type amyloidosis (transthyretin amyloidosis, ATTR V30M). Lobato L. SourceDepartment of Nephrology, Santo António General Hospital, Porto, Portugal. [email protected] Abstract Portuguese-type amyloidosis (transthyretin amyloidosis, ATTR V30M) is the most common form of systemic hereditary amyloidosis, inherited in autosomal dominant mode. The disease, also called familial amyloid polyneuropathy type I (FAP-I), is caused by a mutant transthyretin (TTR) protein, which is synthesized by the liver. A single amino acid substitution of methionine for valine at position 30 of the TTR molecule (TTR V30M) was found in Portuguese patients. The clinical disease usually manifests as a peripheral sensory, motor and autonomic neuropathy starting in the 3rd or 4th decade of life. Renal manifestations of ATTR V30M, like other amyloidoses, are different levels of proteinuria and renal insufficiency. In ATTR V30M a large amyloid deposition in the medullary zone of the kidney and tubules is characteristic. A more extensive glomerular and vascular involvement is present only in patients with renal manifestations. A prospective survey in the north of Portugal showed that a stage of microalbuminuria (MA) could precede nephropathy and neurological disease. Nephropathy in FAP-I is present in one-third of affected patients and tends to aggregate in families. The progression towards end-stage renal disease (ESRD) affects 10% of the patients, and the survival after initiation of dialysis is a mean of 21 months. Patients who progress to ESRD have a late onset of neuropathy and lower prevalence of clinical disease in their families. Liver transplantation is a widely accepted treatment for FAP-I, and combined liver-kidney transplantation is also an option for selected patients with FAP-I and ESRD

The (Inter)cultural Missing Link in Conference Interpreting

The second half of the twentieth century brought about increased international contacts between people from different origins, which led to changes in the translation studies landscape, impacting conference interpreters as well. Although interpreting scholars acknowledge that interpreters are both linguistic and intercultural mediators, at first glance, culture and intercultural mediation appear to be neglected in the domain of conference interpreting, unlike the domains of community and sign language interpreting. In this paper, I conduct an analysis on how the established professional discourse and the scholarly literature have portrayed culture and intercultural mediation in conference interpreting. The analysis reveals various conceptualizations of culture and different stances regarding intercultural mediation. Amongst them, reductionist conceptualizations of culture seem to dominate; conceptualizations that have informed the conference interpreting pedagogy. However, this state of affairs contrasts sharply with the current culturally diverse interpreting landscape, what might have an impact on practice and professional identity

What characteristics of smart home speakers should companies invest in? Differences between actual and potential users

The aim of the research is double. First, it aims to examine the importance of smart product features on users'' satisfaction and adopters'' purchasing intentions. Second, we want to analyse the possible quadratic effect of three features, autonomy, personality and human interaction on the two outcomes. The results show that the features of smart products that influence users'' satisfaction differ from those of adopters'' purchasing intentions. Finally, interesting managerial implications for smart product producers and dealers are offered

TP30 210. Tratamiento de la fibrilación auricular mediante ablación con ultrasonidos concomitante a otra cirugía cardíaca. Resultados a largo plazo en nuestro centro

Introducción y objetivosActualmente la ablación quirúrgica de la fibrilación auricular (FA) es un procedimiento simple que puede realizarse en la mayoría de los pacientes durante la cirugía cardíaca. Presentamos nuestros resultados a largo plazo en ablación con ultrasonidos.Pacientes y métodosEn 23 pacientes con diferentes afecciones quirúrgicas cardíacas y FA (12 pacientes con FA permanente, 2 con FA persistente, 7 con FA paroxística, 1 paciente con fibrilo-flutter y un paciente con flutter auricular aislado), se asoció la ablación con ultrasonidos con el dispositivo UltraCinch™ Epicor, durante 2007–2008. El tamaño preoperatorio por ecocardiografía (ECO) de la aurícula izquierda (AI) fue de 45mm (rango 34–55). En un paciente no pudo realizarse por fallo de la consola.ResultadosNo hubo mortalidad intrahospitalaria. Un paciente precisó un marcapasos definitivo. Dos casos registrados de accidente cerebrovascular (ACV). Tras el procedimiento el 63,6% de los pacientes recuperó el ritmo sinusal, bajando al 54% de los pacientes en el momento del alta. A los 6 meses el 63% de los pacientes se encontraban en ritmo sinusal (RS) y a los 12 meses el 68%. Tras un seguimiento de 4 años obtenemos que sólo el 45% de los pacientes mantiene el RS, de los cuales el 20% tiene episodios de FA paroxística.ConclusiónLa ablación mediante ultrasonidos (US) de la FA es un procedimiento sencillo, reproducible y seguro, siendo su efectividad a corto y medio plazo similar a la de otros procedimientos de ablación. En nuestra corta serie, su eficacia a largo plazo disminuye significativamente

Comparative study of the degree of patient satisfaction in intermittent catheterization with Lofric and polyvinyl chloride catheters

Actas Urol Esp. 2001 Nov-Dec;25(10):725-30. [Comparative study of the degree of patient satisfaction in intermittent catheterization with Lofric and polyvinyl chloride catheters]. [Article in Spanish] López Pereira P, Martínez Urrutia MJ, Lobato L, Rivas S, Jaureguizar Monereo E. SourceUnidad de Urología Infantil, Hospital Universitario La Paz, Madrid. Abstract PURPOSE: To assess the grade of satisfaction in children on intermittent catheterization with the use of LoFric and PVC conventional catheters. MATERIAL AND METHODS: A total of 40 p with experience in CIC were included in this study. An anonymous questionnaire was sent to all patients after 2-months using the LoFric catheter. Patients were divided in 3 groups (bladder augmentation, artificial sphincter, Mitrofanoff) because of major differences in CIC discomfort between these groups. RESULTS: The questionnaire was completed by 87.5% of the patients (35 p). In 86% (30 p) LoFric catheter training was easy or very easy but in 14% (5 p) it was difficult. Four patients had some difficulty during conventional catheter insertion, in 3 (75%) the difficulty disappeared with the use of LoFric catheter. Of the 51% (18 p) who reported some discomfort during the insertion of conventional catheter, 72% said it was eliminated when the LoFric catheter was used. Of 6 p with some discomfort when removing the conventional catheter, 5 (83%) said it disappeared with the new catheter. Th LoFric catheter was favored by 70% of patients because it reduced the discomfort caused by conventional catheters, bladder insertion was easier and smoother, and gel lubrication was not needed. The 17% of patients reported some difficulty dealing with this slippery catheter. CONCLUSIONS: The use of the LoFric catheter could be justified in patients who report with conventional catheters have some discomfort. It can also be recommended in patients with artificial sphincter, bladder augmentation and Mitrofanoff procedure, in whom any complication related to CIC would have serious consequences

On the impact of covariance functions in multi-objective Bayesian optimization for engineering design

This is the author accepted manuscript. The final version is available from the publisher via the DOI in this recordMulti-objective Bayesian optimization (BO) is a highly useful class of methods that can effectively solve computationally expensive engineering design optimization problems with multiple objectives. However, the impact of covariance function, which is an important part of multi-objective BO, is rarely studied in the context of engineering optimization. We aim to shed light on this issue by performing numerical experiments on engineering design optimization problems, primarily low-fidelity problems so that we are able to statistically evaluate the performance of BO methods with various covariance functions. In this paper, we performed the study using a set of subsonic airfoil optimization cases as benchmark problems. Expected hypervolume improvement was used as the acquisition function to enrich the experimental design. Results show that the choice of the covariance function give a notable impact on the performance of multi-objective BO. In this regard, Kriging models with Matern-3/2 is the most robust method in terms of the diversity and convergence to the Pareto front that can handle problems with various complexities.Natural Environment Research Council (NERC

Urinary Biomarkers for Kidney Disease in ATTR Amyloidosis

Aim: The detection and prognosis of nephropathy in transthyretin amyloidosis depends on albuminuria and renal function. Knowing that urinary levels of alpha-1 microglobulin and beta-2 microglobulin reflect tubular dysfunction while urinary alpha-2 macroglobulin implies glomerular damage, we decide investigate the diagnostic value of these markers in the patients with transthyretin amyloidosis. Methods: Serum and urinary samples collected from 30 patients and 11 asymptomatic carriers were tested for alpha-1 microglobulin, beta-2 microglobulin, alpha-2 macroglobulin, albumin, creatinine and cystatin C. Results: Pathological urinary alpha-1 microglobulin was detected in 17 patients, beta-2 microglobulin in 6 and alpha-2 macroglobulin in 5; 5 patients had albuminuria (mg/g creatinine) 30-300 and in 20 patients values >300 were present. Asymptomatic carriers did not present pathological excretion of these biomarkers and albuminuria was >30 in 1 individual. The excretion rates of alpha-1 microglobulin and beta-2 microglobulin were positively correlated with albuminuria (P<0.001), serum creatinine (P<0.05) and cystatin C (P<0.001). Urinary alpha-2 macroglobulin was almost exclusively found in the presence of albuminuria, although their levels do not correlate. Conclusion: Urinary biomarkers emerge as a potential approach to detect renal disease but unexpectedly, urinary alpha-2 macroglobulin was not a marker of the severity of albuminuria

GRB 170817A-GW170817-AT 2017gfo and the observations of NS-NS, NS-WD and WD-WD mergers

The LIGO-Virgo Collaboration has announced the detection of GW170817 and has associated it with GRB 170817A. These signals have been followed after 11 hours by the optical and infrared emission of AT 2017gfo. The origin of this complex phenomenon has been attributed to a neutron star-neutron star (NS-NS) merger. In order to probe this association we confront our current understanding of the gravitational waves and associated electromagnetic radiation with four observed GRBs originating in binaries composed of different combinations NSs and white dwarfs (WDs). We consider 1) GRB 090510 the prototype of NS-NS merger leading to a black hole (BH); 2) GRB 130603B the prototype of a NS-NS merger leading to massive NS (MNS) with an associated kilonova; 3) GRB 060614 the prototype of a NS-WD merger leading to a MNS with an associated kilonova candidate; 4) GRB 170817A the prototype of a WD-WD merger leading to massive WD with an associated AT 2017gfo-like emission. None of these systems support the above mentioned association. The clear association between GRB 170817A and AT 2017gfo has led to introduce a new model based on on a new subfamily of GRBs originating from WD-WD mergers. We show how this novel model is in agreement with the exceptional observations in the optical, infrared, X- and gamma-rays of GRB 170817A-AT 2017gfo.Comment: version accepted for publication in JCAP. Missing references adde