Pregnanetriolone in paper-borne urine for neonatal screening for 21-hydroxylase deficiency: The place of urine in neonatal screening

The standard method of primary neonatal screening for congenital adrenal hyperlasia (CAH), determination of 17-hydroxyprogesterone (17OHP) in heelprick blood, is the object of recurrent controversy because of its poor diagnostic and economic efficiency. The superior ability of urinary pregnanetriolone levels to discriminate between infants with and without classical CAH has been known for some time, but has not hitherto been exploited for primary screening. Here we propose an economical neonatal CAH-screening system based on fluorimetric determination of the product of reaction between urinary pregnanetriolone and phosphoric acidS

Dr. Louis Isaac Woolf: At the Forefront of Newborn Screening and the Diet to Treat Phenylketonuria—Biography to Mark His 100th Birthday

In mid 2019, the author reminded the (International Society for Neonatal Screening) ISNS of the happy occasion of the 100th birthday of one of the living pioneers of neonatal screening, Professor Louis Isaac Woolf. Dr. Woolf turned 100 on April 24, 2019. Then ISNS president Professor Rodney Howell from Miami and Professor Graham Sinclair from Vancouver visited Dr. Woolf to commemorate his work [1]. The ISNS invited the author to write a biography of Dr. Woolf, now aged 101S

The labiate family in the Malaspina expedition (1789-1794). I

Se estudiaron e identificaron los pliegos de la familia Lamiaceae depositados en el herbario MA recolectados por Luis Neé durante la expedición Malaspina, la cual duró algo más de 5 años y recorrió gran parte de América, Filipinas, Australia y algunas islas del océano Pacífico. En total se estudiaron 166 pliegos correspondientes a 68 especies y 23 géneros de labiadas. La mayoría de las colecciones identificadas (14 géneros y 51 especies) proviene de América. Se ha localizado nuevo material tipo de dos especies del género Gardoquia. Se ha excluido el género Salvia (otros 164 pliegos correspondientes a 46 especies), ya que será publicado en un trabajo independiente posterior. The sheets of Lamiaceae deposited in the herbarium MA collected by Luis Neé during the Malaspina expedition, that in 5 years traveled along America, Philippines, Australia, and some Pacific islands. They were studied and identified 166 sheets corresponding to 68 species and 23 genera of the Lamiaceae family. The most of the identified collections (14 genera and 51 species) are from América. New type material has been located of two species of Gardoquia. In a subsequent independent work the genus Salvia (another 164 sheets corresponding to 46 species) will be published

Review and Proposal of Alternative Technologies for Comprehensive and Reliable Newborn Screening Using Paper Borne Urine Samples for Lysosomal Storage Disorders: Glycosphingolipid Disorders

Few current methods are efficient to detect a high number of lysosomal storage disorders (LSDs) in newborn screening. Therefore, we propose a stepwise procedure that starts with the use of paper borne urine samples (Berry-Woolf specimen) for the inexpensive detection of elevated lysosomal content and the identification of which of the three majors biochemical groups -mucopolysaccharides, oligosaccharides, and glycosphingolipids- is detected. Urine samples are preferable to blood samples because of their higher concentrations of the relevant analytes. Subsequent steps would precisely determine which enzyme deficiency is involved. As a summary, following our previous papers on the detection of elevated oligosaccharides and mucopolysaccharides, here we describe how elevated urinary glycosphingolipids (GSLs) could be fluorometrically detected using the reagent 5-hydroxy-1-tetralone (HOT) and subsequently identified with precision by continuous thin layer chromatography or other techniques. We also outline the steps required for the validation of this procedure for its introduction in newborn screening programsS

H-Galois extensions with normal basis for weak Hopf algebras

Let H be a weak Hopf algebra and let A be an H-comodule algebra with subalgebra of coinvariants AH. In this paper we introduce the notion of H-Galois extension with normal basis and we prove that AH ,→ A is an H-Galois extension with normal basis if and only if AH ,→ A is an H-cleft extension which admits a convolution invertible total integral. As a consequence, if H is cocommutative and A commutative, we obtain a bijective correspondence between the second cohomology group H2 ϕAH (H, AH) and the set of isomorphism classes of H-Galois extensions with normal basis whose left action over AH is ϕAHThis work was supported by Ministerio de Economía y Competitividad and by Feder founds. Grant MTM2013-43687-P: Homología, homotopía e invariantes categóricos en grupos y álgebras no asociativasS

Francisco Prat Puig. Su actividad social y cultural entre Cataluña, Agde, La Habana y Santiago de Cuba (1906 - 1997)

The present investigation highlights a university teaching relevant figure profession that since 1947 was part of the Universidad de Oriente faculty. He is a Catalan émigré who arrived in this country with recognized achievements as a pedagogue, researcher, archaeologist and restorer. His training, first activities in Spain and France experience require recognition, in the spirit of rediscovering the cultural substance with which he arrived on the island, and from it, approaching the process of knowledge, interpretation and symbiosis with history and culture Cuban.La presente investigación), destaca una relevante figura del magisterio universitario que desde 1947 formó parte del claustro de profesores de la Universidad de Oriente. Se trata de un emigrado catalán que llegó a esta Patria con reconocidos logros como pedagogo, investigador, arqueólogo y restaurador. Su formación, primeras actividades en España y su vivencia en Francia exigen un reconocimiento, en el ánimo de reencontrar la sustancia cultural con la que arriba a la isla, y desde él, aproximarnos al proceso de conocimiento, interpretación y simbiosis con la historia y cultura cubanas

Aportaciones de Louis I. Woolf al Tratamiento y Diagnóstico Precoz de la Fenilcetonuria y otros Errores Congénitos del Metabolismo. Los comienzos de la Tría Neonatal en España, con referencia al Programa de Galicia. CENTENARIO DE LOUIS ISAAC WOOLF

3ª ediciónAportaciones de Louis I. Woolf al Tratamiento y Diagnóstico Precoz de la Fenilcetonuria y otros Errores Congénitos del Metabolismo. Los comienzos de la Tría Neonatal en España, con referencia al Programa de Galici

High resolution 2-De-Based proteomics analysis of human atrial fibrilation

Comunicaciones a congreso

shinyCurves, a shiny web application to analyse multisource qPCR amplification data: a COVID‑19 case study

[EN]Background Quantitative, reverse transcription PCR (qRT-PCR) is currently the gold-standard for SARS-CoV-2 detection and it is also used for detection of other virus. Manual data analysis of a small number of qRT-PCR plates per day is a relatively simple task, but automated, integrative strategies are needed if a laboratory is dealing with hundreds of plates per day, as is being the case in the COVID-19 pandemic. Results Here we present shinyCurves, an online shiny-based, free software to analyze qRT-PCR amplification data from multi-plate and multi-platform formats. Our shiny application does not require any programming experience and is able to call samples Positive, Negative or Undetermined for viral infection according to a number of user-defined settings, apart from providing a complete set of melting and amplification curve plots for the visual inspection of results. Conclusions shinyCurves is a flexible, integrative and user-friendly software that speeds-up the analysis of massive qRT-PCR data from different sources, with the possibility of automatically producing and evaluating melting and amplification curve plots.This project was supported by funding from the UPV/EHU (Accion Especial "Desarrollo e implementacion del test de diagnostico para COVID-19"). The funding body did not play any roles in the study design; nor in the data collection, analysis and interpretation, or in the writing of the paper