Assessment of plasma chitotriosidase activity, CCL18/PARC concentration and NP-C suspicion index in the diagnosis of Niemann-Pick disease type C: A prospective observational study

Background: Niemann-Pick disease type C (NP-C) is a rare, autosomal recessive neurodegenerative disease caused by mutations in either the NPC1 or NPC2 genes. The diagnosis of NP-C remains challenging due to the non-specific, heterogeneous nature of signs/symptoms. This study assessed the utility of plasma chitotriosidase (ChT) and Chemokine (C-C motif) ligand 18 (CCL18)/pulmonary and activation-regulated chemokine (PARC) in conjunction with the NP-C suspicion index (NP-C SI) for guiding confirmatory laboratory testing in patients with suspected NP-C. Methods: In a prospective observational cohort study, incorporating a retrospective determination of NP-C SI scores, two different diagnostic approaches were applied in two separate groups of unrelated patients from 51 Spanish medical centers (n = 118 in both groups). From Jan 2010 to Apr 2012 (Period 1), patients with =2 clinical signs/symptoms of NP-C were considered ''suspected NP-C'' cases, and NPC1/NPC2 sequencing, plasma chitotriosidase (ChT), CCL18/PARC and sphingomyelinase levels were assessed. Based on findings in Period 1, plasma ChT and CCL18/PARC, and NP-C SI prediction scores were determined in a second group of patients between May 2012 and Apr 2014 (Period 2), and NPC1 and NPC2 were sequenced only in those with elevated ChT and/or elevated CCL18/PARC and/or NP-C SI =70. Filipin staining and 7-ketocholesterol (7-KC) measurements were performed in all patients with NP-C gene mutations, where possible. Results: In total across Periods 1 and 2, 10/236 (4%) patients had a confirmed diagnosis o NP-C based on gene sequencing (5/118 4.2%] in each Period): all of these patients had two causal NPC1 mutations. Single mutant NPC1 alleles were detected in 8/236 (3%) patients, overall. Positive filipin staining results comprised three classical and five variant biochemical phenotypes. No NPC2 mutations were detected. All patients with NPC1 mutations had high ChT activity, high CCL18/PARC concentrations and/or NP-C SI scores =70. Plasma 7-KC was higher than control cut-off values in all patients with two NPC1 mutations, and in the majority of patients with single mutations. Family studies identified three further NP-C patients. Conclusion: This approach may be very useful for laboratories that do not have mass spectrometry facilities and therefore, they cannot use other NP-C biomarkers for diagnosis

The Seventeenth Data Release of the Sloan Digital Sky Surveys: Complete Release of MaNGA, MaStar and APOGEE-2 Data

This paper documents the seventeenth data release (DR17) from the Sloan Digital Sky Surveys; the fifth and final release from the fourth phase (SDSS-IV). DR17 contains the complete release of the Mapping Nearby Galaxies at Apache Point Observatory (MaNGA) survey, which reached its goal of surveying over 10,000 nearby galaxies. The complete release of the MaNGA Stellar Library (MaStar) accompanies this data, providing observations of almost 30,000 stars through the MaNGA instrument during bright time. DR17 also contains the complete release of the Apache Point Observatory Galactic Evolution Experiment 2 (APOGEE-2) survey which publicly releases infra-red spectra of over 650,000 stars. The main sample from the Extended Baryon Oscillation Spectroscopic Survey (eBOSS), as well as the sub-survey Time Domain Spectroscopic Survey (TDSS) data were fully released in DR16. New single-fiber optical spectroscopy released in DR17 is from the SPectroscipic IDentification of ERosita Survey (SPIDERS) sub-survey and the eBOSS-RM program. Along with the primary data sets, DR17 includes 25 new or updated Value Added Catalogs (VACs). This paper concludes the release of SDSS-IV survey data. SDSS continues into its fifth phase with observations already underway for the Milky Way Mapper (MWM), Local Volume Mapper (LVM) and Black Hole Mapper (BHM) surveys

La enseñanza virtual de imágenes clínicas, tutorizada mediante correo electrónico, es más eficiente que la enseñanza tradicional On-line learning with e-mail tutoring for clinical images is more efficient than traditional teaching methods

Introducción. La enseñanza de la patología médica a través de imágenes es clave para conseguir habilidad clínica en el diagnóstico. Objetivos. Comparar la eficacia docente de un método de enseñanza basado en imágenes en un &lsquo;entorno no presencial' frente a la enseñanza tradicional en un &lsquo;entorno presencial', y evaluar el grado de satisfacción del alumno sobre este método de innovación docente en la enseñanza de la patología médica. Materiales y métodos. El estudio se realizó durante el curso 2005-2006 entre 62 alumnos de Patología médica, de la Facultad de Medicina de Córdoba. Se compararon los dos métodos de enseñanza: el presencial (en cada seminario se expusieron verbalmente 15 imágenes) y el no presencial (imágenes clínicas expuestas en la página web de la Facultad de Medicina con tutorización a través del correo electrónico). La evaluación consistió en la valoración clínica de 16 imágenes (ocho imágenes de cada modelo de enseñanza). Se comparó la puntuación del examen teórico con la de las imágenes clínicas. Tras el examen fi-nal, el alumno realizó un cuestionario de evaluación. Resultados. La calificación media final de las imágenes (sobre 10 puntos) fue de: 6,8 &plusmn; 1,5 y la del test (sobre 10 puntos) fue de 7,3 &plusmn; 0,9. La calificación media de las imágenes expuestas en la web (7,4 &plusmn; 1,6) fue superior a la del modelo presencial (6,3 &plusmn; 1,7) p < 0,0001. Existía una correlación entre la puntuación total de la imagen y la del test (r: 0,584, p <0,0001). Asimismo, se correlacionaba la calificación de la imagen del modelo presencial y la de la imagen expuesta en la web (r: 0,697, p < 0,0001). Conclusiones. Las calificaciones de los casos expuestos en la web fueron superiores a las de los casos expuestos en los seminarios presenciales. La enseñanza de la patología médica a través de imágenes clínicas fue un método muy bien considerado por los alumnos.<br>Introduction. The teaching of Internal Medicine through images is the key for the achievement of clinical skills in the diagnosis. Aims. To compare the efficiency of a teaching method based on images in a face-to-face learning situation with the traditional teaching methods, and to evaluate the degree of satisfaction amongst the alumni regarding the new teaching method within the Internal Medicine. Materials and methods. The study was carried out throughout the academic year 2005/06 amongst 62 Internal Medicine students in the School of Medicine in Córdoba. Two teaching methods were compared: (i) face-to-face -15 images were exposed in workshops, and (ii) distance- clinical images were exposed at the School of Medicine web site through a tutorial system based on e-mail. The evaluation consisted in a clinical evaluation of 16 images -8 images for each teaching method. The results from the multiple choice exam and the clinical images exam were also compared. Finally, students answered an assessment questionnaire. Results. The final average qualification -out of 10- for the images was: 6.8 &plusmn; 1.5 and for the multiple choice exam -out of 10- was 7.3 &plusmn; 0.9. The average qualification was higher for the images exposed at the web site than for the face-to-face model: (7.4 &plusmn; 1.6) vs (6.3 &plusmn; 1.7) p < 0.0001. There was a correlation between the total punctuation for the images and the examination (r: 0.584, p < 0.0001). Moreover, there was also a correlation between the qualification obtained for the images in the face-to-face method and the images exposed on-line (r: 0.697, p < 0.0001). Conclusions. Qualifications for the cases displayed on the website were higher than those for the cases exposed on the face-to-face workshops. In addition to this, students had a very positive opinion regarding the new teaching method for Internal Medicine based on clinical images

Radiation effects in optical coatings for ITER diagnostics

The aim is to provide an assessment of radiation damage in coated films on refractive substrates that could be used as relevant information to protect the field lenses in optical diagnostics for ITER. Radiation-resistant optical materials with transparent properties should transfer light from plasma to detectors through the interspace until the port cell area where they are located (more than 10 m from the vacuum window). These optical coatings and substrates should have resilience enough to withstand neutron and gamma irradiation without significant degradation of their transmittance. Coated sapphire (Al2O3 windows), YAG with Broad Band Anti-Reflective (BBAR) and substrates of BaF2/CaF2 protected with anti-humidity coating (Parylene-C) were extensively tested. After testing, transmission mea- surements and analysis of optical surfaces yield significant discoveries. All substrates showed good refractive performance under gamma radiation. On the contrary, Parylene-C did not resist temperatures above 100 degrees Celsius as expected, according to manufacturing specifications. In addition, it was observed that with an energy dose of 332 kGy of gamma rays and a significantly lower temperature of 50 degrees Celsius, the Parylene-C protection is also damaged. Coated sapphire had the best overall performance with respect to the neutron irradiation tests. Nevertheless, the decrease in transmission observed in the YAG and BaF2 coated samples is not significant for the expected cumulative neutron dose that these samples will receive at their location within the diagnostic. This information was considered for the selection of the best candidates as refractive lenses and optical coatings for the Preliminary Design Review (PDR) of ex-vessel components that will integrate the Wide-Angle Viewing System (WAVS) for ITER Equatorial Port 12