A new patient with deletion of 10p and revision of the literature. Study of the genotype-phenotype correlation

Citogenética y Genética MolecularSince the first report by Elliott et al., in 1970, of a patient with partial deletion of the short arm of chromosome 10 (10p), at least 67 further cases have been reported, of which 44 were pure de novo deletions. Two syndromes have been associated with deletions of 10p: DiGeorge 2 syndrome (DGS2) and HDR (Hypothyroidism, sensorineural Deafness and Renal disease). DGS2 (so-named due to its similitude to DiGeorge syndrome) is characterised by congenital heart defects, dysmorphism, hypoplastic thymus with T-cell deficiency, and hypoparathyroidism with hypocalcemia. In 1984, Herve et al. published the first case that associated a deletion of 10p with a clinical picture of DiGeorge, and a critical region, of approximately 1 Mb, in 10p13-p14 was delineated in 1998 by Schuffenhauer et al. On the other hand, HDR syndrome was first described in 1977 by Barakat et al., and in 1997 the syndrome was associated with a deletion of 10p. The observation that such deletions in patients with HDR were outside the DGS2 critical region led to the discovery of a causal gene, GATA3 located in 10p14, which has an important role in embryonic development of the kidney, parathyroids and auditory system. Here we present a patient with a 10p deletion that includes both the DGS2 critical region and GATA3 gene. The propositus’ clinical picture includes facial dysmorphism, unilateral ptosis, unilateral renal agenesis and hypoacusia. We carried out a revision of the literature, as well as a comparative analysis of the clinical characteristics and the cytoband affected, with the aim of correlating the main manifestations with the region of 10p deleted. The results have shown an overlap of clinical features as well as a great variability of manifestations among patients with different 10p deletions. No correlation could be established between the deleted genes and clinical manifestations, thus suggesting the involvement of more complex molecular mechanisms.N

Informe sobre el gravamen local de las entregas domiciliarias realizadas en la ciudad de Barcelona por grandes empresas cuyo objeto social es el comercio electrónico

Sol·licitant de l’informe: Ajuntament de Barcelon

Targeted screening for congenital cytomegalovirus infection in infants who fail universal newborn hearing screen.

Introduction: Given the importance of early antiviral treatment in infants with sensorineural hearing loss secondary to congenital cytomegalovirus infection (cCMV), we submit a protocol for early diagnosis of cCMV according to the outcome of universal newborn hearing screening using automated auditory brainstem responses (AABR) (targeted CMV screening). Material and methods: Based on current knowledge provides by literature, we elaborate an action algorithm agreed between the coordinators of the Early Hearing Detection and Intervention program in Castilla y León (Spain). Results: If the first AABR test is a refer result for one or both ears, we request the identification of the viral genome by PCR in a urine sample within 15 days. The confirmation of uni or bilateral sensorineural hearing loss, allows the beginning of the antiviral treatment, before the first month of life. Discussion: Universal screening of cCMV enables monitoring of all infected infants, identifying cases of late-onset/progressive hearing loss sooner; but in the presence of an unknown cause- sensorineural hearing loss from the first two weeks of life, efforts must be made to rule out cCMV infection, although it is more complicated under these conditions. Conclusion: The inclusion of cCMV diagnosis into neonatal hearing screening program, will allow early detection of congenital infection in some infants, improving their quality of life.Introducción: Dada la importancia del inicio temprano de un tratamiento antiviral en los neonatos con hipoacusia neurosensorial secundaria a infección congénita por citomegalovirus (CMVc), presentamos un protocolo de diagnóstico precoz del CMVc en función del resultado del cribado auditivo neonatal universal con potenciales evocados auditivos automatizados (PEATC-A). Material y métodos: Partiendo del conocimiento actual que aporta la literatura, elaboramos un algoritmo de actuación consensuado entre los coordinadores del Programa de Detección Precoz de la Hipoacusia Infantil en la Comunidad de Castilla y León (España). Resultados: Si la primera prueba de PEATC-A en el neonato es un no pasa de uno o ambos oídos, solicitamos en el plazo de 15 días la identificación del genoma viral mediante PCR en una muestra de orina. La confirmación posterior de hipoacusia neurosensorial uni o bilateral, permitirá el inicio del tratamiento antiviral, antes del primer mes de vida. Discusión: Si bien el cribado universal del CMVc haría posible el seguimiento de todos los neonatos infectados, detectando más precozmente los casos de hipoacusia tardía/progresiva; ante la presencia de una hipoacusia neurosensorial de causa desconocida, a partir de las dos semanas de vida posnatal, se debe intentar descartar una infección por CMVc, aunque en estas condiciones resulta más complicado. Conclusión: La incorporación del diagnóstico del CMVc en el programa de cribado auditivo neonatal, permitirá la detección precoz de algunos niños con infección congénita, pudiéndoles mejorar su calidad de vida

Marco activo de recursos de innovación docente: Madrid

Una guía de espacios e instituciones para actividades educativas complementarias en enseñanza secundaria y Formación Profesional

Treatment with tocilizumab or corticosteroids for COVID-19 patients with hyperinflammatory state: a multicentre cohort study (SAM-COVID-19)

Objectives: The objective of this study was to estimate the association between tocilizumab or corticosteroids and the risk of intubation or death in patients with coronavirus disease 19 (COVID-19) with a hyperinflammatory state according to clinical and laboratory parameters. Methods: A cohort study was performed in 60 Spanish hospitals including 778 patients with COVID-19 and clinical and laboratory data indicative of a hyperinflammatory state. Treatment was mainly with tocilizumab, an intermediate-high dose of corticosteroids (IHDC), a pulse dose of corticosteroids (PDC), combination therapy, or no treatment. Primary outcome was intubation or death; follow-up was 21 days. Propensity score-adjusted estimations using Cox regression (logistic regression if needed) were calculated. Propensity scores were used as confounders, matching variables and for the inverse probability of treatment weights (IPTWs). Results: In all, 88, 117, 78 and 151 patients treated with tocilizumab, IHDC, PDC, and combination therapy, respectively, were compared with 344 untreated patients. The primary endpoint occurred in 10 (11.4%), 27 (23.1%), 12 (15.4%), 40 (25.6%) and 69 (21.1%), respectively. The IPTW-based hazard ratios (odds ratio for combination therapy) for the primary endpoint were 0.32 (95%CI 0.22-0.47; p < 0.001) for tocilizumab, 0.82 (0.71-1.30; p 0.82) for IHDC, 0.61 (0.43-0.86; p 0.006) for PDC, and 1.17 (0.86-1.58; p 0.30) for combination therapy. Other applications of the propensity score provided similar results, but were not significant for PDC. Tocilizumab was also associated with lower hazard of death alone in IPTW analysis (0.07; 0.02-0.17; p < 0.001). Conclusions: Tocilizumab might be useful in COVID-19 patients with a hyperinflammatory state and should be prioritized for randomized trials in this situatio

Adelante / Endavant

Séptimo desafío por la erradicación de la violencia contra las mujeres del Institut Universitari d’Estudis Feministes i de Gènere "Purificación Escribano" de la Universitat Jaume

Spatiotemporal Characteristics of the Largest HIV-1 CRF02_AG Outbreak in Spain: Evidence for Onward Transmissions

Background and Aim: The circulating recombinant form 02_AG (CRF02_AG) is the predominant clade among the human immunodeficiency virus type-1 (HIV-1) non-Bs with a prevalence of 5.97% (95% Confidence Interval-CI: 5.41–6.57%) across Spain. Our aim was to estimate the levels of regional clustering for CRF02_AG and the spatiotemporal characteristics of the largest CRF02_AG subepidemic in Spain.Methods: We studied 396 CRF02_AG sequences obtained from HIV-1 diagnosed patients during 2000–2014 from 10 autonomous communities of Spain. Phylogenetic analysis was performed on the 391 CRF02_AG sequences along with all globally sampled CRF02_AG sequences (N = 3,302) as references. Phylodynamic and phylogeographic analysis was performed to the largest CRF02_AG monophyletic cluster by a Bayesian method in BEAST v1.8.0 and by reconstructing ancestral states using the criterion of parsimony in Mesquite v3.4, respectively.Results: The HIV-1 CRF02_AG prevalence differed across Spanish autonomous communities we sampled from (p &lt; 0.001). Phylogenetic analysis revealed that 52.7% of the CRF02_AG sequences formed 56 monophyletic clusters, with a range of 2–79 sequences. The CRF02_AG regional dispersal differed across Spain (p = 0.003), as suggested by monophyletic clustering. For the largest monophyletic cluster (subepidemic) (N = 79), 49.4% of the clustered sequences originated from Madrid, while most sequences (51.9%) had been obtained from men having sex with men (MSM). Molecular clock analysis suggested that the origin (tMRCA) of the CRF02_AG subepidemic was in 2002 (median estimate; 95% Highest Posterior Density-HPD interval: 1999–2004). Additionally, we found significant clustering within the CRF02_AG subepidemic according to the ethnic origin.Conclusion: CRF02_AG has been introduced as a result of multiple introductions in Spain, following regional dispersal in several cases. We showed that CRF02_AG transmissions were mostly due to regional dispersal in Spain. The hot-spot for the largest CRF02_AG regional subepidemic in Spain was in Madrid associated with MSM transmission risk group. The existence of subepidemics suggest that several spillovers occurred from Madrid to other areas. CRF02_AG sequences from Hispanics were clustered in a separate subclade suggesting no linkage between the local and Hispanic subepidemics

Contaduría

Sin duda alguna entre los beneficios se considera que a través de programas de calidad de las organizaciones serán más capaces de lograr sus objetivos, mejorar la calidad de los servicios y productos que ofrecen sus usuarios y ser más competitivas, productivas y eficientes. Así mismo se argumenta que el personal se verá beneficiado porque contará con un mejor sistema de capacitación y formación profesional, un ambiente más propicio para trabajar y, en general, una mejor perspectiva de desarrollo

Auditoria, calidad, innovación

Sin duda alguna entre los beneficios se considera que a través de programas de calidad de las organizaciones serán más capaces de lograr sus objetivos, mejorar la calidad de los servicios y productos que ofrecen sus usuarios y ser más competitivas, productivas y eficientes. Así mismo se argumenta que el personal se verá beneficiado porque contará con un mejor sistema de capacitación y formación profesional, un ambiente más propicio para trabajar y, en general, una mejor perspectiva de desarrollo