Simultaneous diagnosis of liver PEComa in a family with known Li-Fraumeni syndrome: a case report.

BACKGROUND: Li-Fraumeni syndrome (LFS) is an autosomal dominant hereditary disease. It is associated with the loss of function of the p53 protein and an increased risk of malignant tumor development at early age. The most frequently detected tumors include breast cancer, sarcomas, leukemia, brain tumors, and adrenocortical carcinomas. While sarcomas account for only 1% of solid tumors, they are more frequently detected in these families. CASE PRESENTATION: We report a simultaneous diagnosis of hepatic perivascular epithelioid cell tumor (PEComa), a very rare subtype of sarcoma, in two siblings with a LFS. CONCLUSIONS: The simultaneous diagnosis of PEComa in two siblings presented in this case allowed us to review the frequency of PEComa in this genetic syndrome previously reported, which was very little. Despite its rarity, PEComa must be considered in the differential diagnosis of new-onset liver lesions in patients who were previously diagnosed with LFS.

A scoping review of initiatives to reduce inappropriate or non-beneficial hospital admissions and bed days in people nearing the end of their life: much innovation, but limited supporting evidence.

BACKGROUND: Hospitalisation during the last weeks of life when there is no medical need or desire to be there is distressing and expensive. This study sought palliative care initiatives which may avoid or shorten hospital stay at the end of life and analysed their success in terms reducing bed days. METHODS: Part 1 included a search of literature in PubMed and Google Scholar between 2013 and 2018, an examination of governmental and organisational publications plus discussions with external and co-author experts regarding other sources. This initial sweep sought to identify and categorise relevant palliative care initiatives. In Part 2, we looked for publications providing data on hospital admissions and bed days for each category. RESULTS: A total of 1252 abstracts were reviewed, resulting in ten broad classes being identified. Further screening revealed 50 relevant publications describing a range of multi-component initiatives. Studies were generally small and retrospective. Most researchers claim their service delivered benefits. In descending frequency, benefits identified were support in the community, integrated care, out-of-hours telephone advice, care home education and telemedicine. Nurses and hospices were central to many initiatives. Barriers and factors underpinning success were rarely addressed. CONCLUSIONS: A wide range of initiatives have been introduced to improve end-of-life experiences. Formal evidence supporting their effectiveness in reducing inappropriate/non-beneficial hospital bed days was generally limited or absent. TRIAL REGISTRATION: N/A.

Outpatient management of incidental pulmonary embolism in cancer patient.

PURPOSE: Incidentally discovered pulmonary embolism is a prevalent clinical problem for cancer patients and contributes significantly to the burden of cancer-associated thrombosis. The aim of this study was to explore if outpatient management of incidental pulmonary embolism (iPE) in cancer patients is effective and can be conducted safely. METHODS/PATIENTS: We performed a prospective observational cohort study in a single Spanish tertiary hospital. Patients diagnosed with iPE and active cancer were enrolled. Between May 2016 and May 2017, 25 consecutive patients were included in the study. RESULTS: All patients were assessed in the emergency room (ER) and started treatment with low-molecular weight heparins (LMWH) being discharged in the following 24 h. Congestive heart failure and right ventricular dysfunction were ruled out, and none of them presented massive PE, active bleeding or any disease-related reason that required hospitalization. The 90-day follow-up visit showed no venous thromboembolism (VTE) recurrence and the major bleeding rate was 4%. Mortality rate at 30 and 90 days was 0%. CONCLUSIONS: Outpatient management for iPE in cancer patients appears to be feasible and safe in selected cancer patients.

Unexpected hosts: imaging parasitic diseases.

Radiologists seldom encounter parasitic diseases in their daily practice in most of Europe, although the incidence of these diseases is increasing due to migration and tourism from/to endemic areas. Moreover, some parasitic diseases are still endemic in certain European regions, and immunocompromised individuals also pose a higher risk of developing these conditions. This article reviews and summarises the imaging findings of some of the most important and frequent human parasitic diseases, including information about the parasite's life cycle, pathophysiology, clinical findings, diagnosis, and treatment. We include malaria, amoebiasis, toxoplasmosis, trypanosomiasis, leishmaniasis, echinococcosis, cysticercosis, clonorchiasis, schistosomiasis, fascioliasis, ascariasis, anisakiasis, dracunculiasis, and strongyloidiasis. The aim of this review is to help radiologists when dealing with these diseases or in cases where they are suspected. Teaching Points • Incidence of parasitic diseases is increasing due to migratory movements and travelling. • Some parasitic diseases are still endemic in certain regions in Europe. • Parasitic diseases can have complex life cycles often involving different hosts. • Prompt diagnosis and treatment is essential for patient management in parasitic diseases. • Radiologists should be able to recognise and suspect the most relevant parasitic diseases.

Soluble expression, purification and functional characterisation of carboxypeptidase G2 and its individual domains.

Due to its applications in the treatment of cancer and autoimmune diseases, the 42 kDa zinc-dependent metalloenzyme carboxypeptidase G2 (CPG2) is of great therapeutic interest. An X-ray crystal structure of unliganded CPG2 reported in 1997 revealed the domain architecture and informed early rational drug design efforts, however further efforts at co-crystallization of CPG2 with ligands, substrates or inhibitors have not been reported. Thus key features of CPG2 such as the location of the active site, the presence of additional ligand-binding sites, stability, oligomeric state, and the molecular basis of activity remain largely unknown, with the current working understanding of CPG2 activity based primarily on computational modelling. To facilitate renewed efforts in CPG2 structural biology, we report the first high-yield (250 mg L(-1)) recombinant expression (and purification) of soluble and active CPG2 using the Escherichia coli expression system. We used this protocol to produce full-length enzyme, as well as protein fragments corresponding to the individual catalytic and dimerization domains, and the activity and stability of each construct was characterised. We adapted our protocol to allow for uniform incorporation of NMR labels ((13)C, (15)N and (2)H) and present preliminary solution-state NMR spectra of high quality. Taken together, our results offer a route for production and solution-state characterization that supports renewed effort in CPG2 structural biology as well as design of significantly truncated CPG2 proteins, which retain activity while yielding (potentially) improved immunogenicity.

Remarkable viscoelasticity in mixtures of cyclodextrins and nonionic surfactants.

We report the effect of native cyclodextrins (α, ß, and γ) and selected derivatives in modulating the self-assembly of the nonionic surfactant polyoxyethylene cholesteryl ether (ChEO10) and its mixtures with triethylene glycol monododecyl ether (C12EO3), which form wormlike micelles. Cyclodextrins (CDs) generally induce micellar breakup through a host-guest interaction with surfactants; instead, we show that a constructive effect, leading to gel formation, is obtained with specific CDs and that the widely invoked host-guest interaction may not be the only key to the association. When added to wormlike micelles of ChEO10 and C12EO3, native ß-CD, 2-hydroxyethyl-ß-CD (HEBCD), and a sulfated sodium salt of ß-CD (SULFBCD) induce a substantial increase of the viscoelasticity, while methylated CDs rupture the micelles, leading to a loss of the viscosity, and the other CDs studied (native α- and γ- and hydroxypropylated CDs) show a weak interaction. Most remarkably, the addition of HEBCD or SULFBCD to pure ChEO10 solutions (which are low-viscosity, Newtonian fluids of small, ellipsoidal micelles) induces the formation of transparent gels. The combination of small-angle neutron scattering, dynamic light scattering, and cryo-TEM reveals that both CDs drive the elongation of ChEO10 aggregates into an entangled network of wormlike micelles. (1)H NMR and fluorescence spectroscopy demonstrate the formation of inclusion complexes between ChEO10 and methylated CDs, consistent with the demicellization observed. Instead, HEBCD forms a weak complex with ChEO10, while no complex is detected with SULFBCD. This shows that inclusion complex formation is not the determinant event leading to micellar growth. HEBCD:ChEO10 complex, which coexists with the aggregated surfactant, could act as a cosurfactant with a different headgroup area. For SULFBCD, intermolecular interactions via the external surface of the CD may be more relevant.

Gestión de calidad y dosimetría en estudios de tomografía computarizada en la pancreatitis aguda / Quality control and dosimetry in CT studies in acute pancreatitis

Objetivo: Analizar los protocolos de tomografía computarizada (TC) para el estudio de la pancreatitis aguda utilizados en los distintos turnos de trabajo del Servicio de Radiodiagnóstico del Hospital Clínico San Carlos (HCSC), para valorar si existen diferencias significativas entre ellos y si éstas afectan a la calidad de los estudios y a las dosis impartidas a los pacientes. Material y métodos: Se revisaron retrospectivamente 120 estudios de TC en pacientes con pancreatitis aguda. Se obtuvieron los protocolos técnicos estándar usados en los siete turnos de trabajo y se compararon entre sí, lo que permitió agrupar los protocolos en dos grupos. Se escogieron 10 exploraciones de cada grupo para evaluar los criterios de calidad y las magnitudes dosimétricas (DLP, CTDIw y dosis efectiva), y se siguieron los criterios para las exploraciones de páncreas de la Guía Europea de Criterios de Calidad para la TC. Resultados: Entre los dos grupos finales existen diferencias en la intensidad de corriente de tubo y en el tiempo por cada rotación del tubo entre los protocolos (p < 0,05). No hay diferencias significativas entre los dos grupos en cuanto a la calidad de los estudios (p = 0,47) aunque sí las hubo en los valores de las magnitudes dosimétricas (p < 0,001). Conclusiones: Las diferencias encontradas entre los protocolos que se usaron en el estudio de TC para pancreatitis aguda en el HCSC afectan directamente a la dosis de radiación recibida por el paciente, pero no a la calidad de los estudios. Por tanto, debe establecerse un protocolo único que obtenga una calidad suficiente de imagen con la mínima dosis en el estudio de la pancreatitis aguda

Objective: To analyze the protocols for the use of computed tomography (CT) in the study of acute pancreatitis employed in different work shifts in our diagnostic imaging department in order to determine whether there are significant differences among them and whether these differences affect the quality of the examinations and the dose of radiation received by the patients. Material and methods: A total of 120 CT studies carried out in patients with acute pancreatitis were reviewed retrospectively. The standard technical protocols used in the seven work shifts were examined and compared with one another. The results allowed the protocols to be divided into two groups. Ten examinations from each group were selected to be evaluated with respect to dosimetric parameters (dose length product (DLP), weighted computed tomography dose index (CTDIw), and effective dose) and the quality criteria for CT examinations of the pancreas laid out in the «European Guidelines on Quality Criteria for Computed Tomography». Results: Significant differences (p < 0.05), de forma que existen dos grupos diferenciados claramente in tube current levels and tube rotation time were found between the two groups of protocols. No significant differences with respect to the quality of the studies were found between the two groups (p = 0.47), although there were significant differences (p < 0.001) in the dosimetric values. Conclusions: The differences found between the protocols used for CT examination in acute pancreatitis in our department directly affect the dose of radiation the patient receives but not the quality of the study. Therefore, a single protocol that ensures sufficient image quality using the minimum dose of radiation should be established for CT evaluation of acute pancreatitis