Second Workshop on Atlantic chub mackerel (Scomber colias) (WKCOLIAS2)

The Atlantic chub mackerel Scomber colias has become an increasingly important commercial species in the European Atlantic waters in the last 10–15 years, probably through an expansion process from NW African waters and due to market needs. However, at present there are no assessment or advice requirements. In the WK framework, available information of the species in the West Atlantic waters has been compiled in order to evaluate possible geographical differences and trends, and the feasibility to describe its population structure. Though the Atlantic chub mackerel is not routinely included among the target species in the acoustic surveys performed in the Atlantic Iberian waters and the Mediterranean Sea, a synoptic overview of the species is possible over all its West Atlantic distribution. Moreover, the data available have indicated latitudinal trends, mainly in the landings’ length composition, L50 and the spawning periods. Nevertheless, even if some degree of connectivity likely exists and migrations are occurring between adjacent areas, some subunits could be considered for management purposes. From the assessment models’ trials carried out, the results or reference points obtained for the European fisheries cannot be retained at present. Therefore, continuing collating information from fisheries and biological sampling of the species, obtaining reliable biomass estimations from scientific surveys and identifying management units seem the main priorities to address in future research work and in case of assessment requirements

Prevalence and geographic distribution of the wolf-hirschhorn syndrome in Spain

Referencias bibliográficas: • Battaglia A, Filippi T, Carey JC. Update on the clinical features and natural history of Wolf-Hirschhorn (4p-) syndrome: experience with 87 patients and recommendations for routine health supervision. Am. J. Med. Genet. C Semin. Med. Genet. 2008; 148C: 246-251. • Battaglia A, Carey JC, South ST. Wolf-Hirschhorn syndrome: A review and update. Am. J. Med. Genet. Part. C Semin. Med. Genet. 2015; 169: 216–223. • Nevado J, Ho KS, Zollino M, Blanco R, Cobaleda C, Golzio C, Beaudry-Bellefeuille I, Berrocoso S, Limeres J, Barrúz P, Serrano-Martín C, Cafiero C, Málaga I, Marangi G, Campos-Sánchez E, Moriyón-Iglesias T, Márquez S, Markham L, Twede H, Lortz A, Olson L, Sheng X, Weng C, Wassman ER III, Newcomb T, Wassman ER, Carey JC, Battaglia A, López-Granados E, Wolf-Hirschhorn Spain’s Working Group, Douglas D, Lapunzina P. International meeting on Wolf-Hirschhorn syndrome: Update on the nosology and new insights on the pathogenic mechanisms for seizures and growth delay. Proc. Am. J. Med. Genet. Part A. 2020; 182: 257–267. • Battaglia A, Carey JC. The delineation of the Wolf-Hirschhorn syndrome over six decades: Illustration of the ongoing advances in phenotype analysis and cytogenomic technology. Am J Med Genet A. 2021;185(9):2748-2755. • South ST, Whitby H, Battaglia A, Carey JC, Broth-man AR. Comprehensive analysis of Wolf–Hirschhorn syndrome using array CGH indicates a high prevalence of translocations. European Journal of Human Genetics.2008; 16: 45–52. • Blanco-Lago R, Malaga-Dieguez I, Granizo-Martinez JJ, Carrera-Garcia L, Barruz-Galian P, Lapunzina P, Nevado-Blanco J, En Representacion Del Grupo Colaborativo Para El Estudio Del Sindrome de Wolf-Hirschhorn ERDGCPEEDSW. Wolf-Hirschhorn syndrome. Description of a Spanish cohort of 51 cases and a literature review. Rev Neurol. 2017 May 1;64(9):393-400.PMID: 28444681 • Limeres J, Serrano C, De Nova JM, Silvestre-Rangil J, Machuca G, Maura I, Cruz Ruiz-Villandiego J, Diz P, Blanco-Lago R, Nevado J, Diniz-Freitas M. Oral Manifestations of Wolf-Hirschhorn Syndrome: Genotype-Phenotype Correlation Analysis. J. Clin. Med. 2020; 9(11): 3556. • Battaglia A, Lortz A, Carey JC. Natural history study of adults with Wolf-Hirschhorn syndrome 1: Case series of personally observed 35 individuals. Am. J. Med. Genet. A. 2021;185(6):1794-1802. • Carey JC, Lortz A, Mendel A, Battaglia A. Natural history study of adults with Wolf-Hirschhorn syndrome 2: Patient-reported outcomes study. Am. J. Med. Genet. A. 2021;185(7): 2065-2069. • Shannon NL, Maltby EL, Rigby AS, Quarrell OWJ. An epidemiological study of Wolf-Hirschhorn syndrome: life expectancy and cause of mortality. J. Med. Genet. 2001; 38: 674-679. • Taruscio, D, Vittozi L, Rocchetti A, Torreri P, Ferrari L. The Occurrence of 275 Rare Diseases and 47 Rare Disease Groups in Italy. Results from the National Registry of Rare Diseases. International Journal of Environmental Research and Public Health. 2018:15:1470-88. • Zollino M, Murdolo M, Marangi G, Pecile V, Galasso C, Mazzanti L, Neri G. On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: genotype-phenotype correlation analysis of 80 patients and literature review. Am. J. Med. Genet. C Semin. Med. Genet. 2008; 148C (4): 257-269. • Corrêa T, Mergener R, Leite JCL, Galera MF, Moreira LMA, Vargas JE, Riegel M. Cytogenomic Integrative Network Analysis of the Critical Region Associated with Wolf-Hirschhorn Syndrome. Biomed Res Int. 2018; 5436187. • Blanco-Lago R, Malaga-Dieguez I, Granizo-Martinez JJ, Carrera-Garcia L, Barruz-Galian P, Lapunzina P, Nevado-Blanco J, En representacion del Grupo Colaborativo para el Estudio del Sindrome de Wolf-Hirschhorn ERDGCPEEDSW. Wolf-Hirschhorn syndrome. Description of a Spanish cohort of 51 cases and a literature review. Rev Neurol. 2017 May 1;64(9):393-400. PMID: 28444681 • Gavril EC, Luca AC, Curpan AS, Popescu R, Resmerita I, Panzaru MC, Butnariu LI, Gorduza EV, Gramescu M, Rusu C. Wolf-Hirschhorn Syndrome: Clinical and Genetic Study of 7 New Cases, and Mini Review. Children (Basel). 2021; 8(9):751. • Shimizu K, Wakui K, Kosho T, Okamoto N, Mizuno S, Itomi K, Hattori S, Nishio K, Samura O, Kobayashi Y, Kako Y, Arai T, Tsutomu OI, Kawame H, Narumi Y, Ohashi H, Fukushima Y. Microarray and FISH-based genotype-phenotype analysis of 22 Japanese patients with Wolf-Hirschhorn syndrome. Am. J. Med. Genet. A. 2014; 164A (3): 597-609.FUNDAMENTOS // El Síndrome de Wolf-Hirschhorn es una enfermedad poco frecuente de origen genético causada por la deleción del extremo distal del cromosoma 4, que incluye preferentemente la región p16.3. Los objetivos de este trabajo fueron determinar la prevalencia de la enfermedad en la población española, así como establecer la distribución geográfica del síndrome a lo largo de la geografía nacional, dilucidando el rango de edad en el que existían más pacientes afectados. MÉTODOS // Para la investigación se reclutaron 80 pacientes diagnosticados con el síndrome en el periodo 2013-2021, en todo el territorio español, gracias a los acuerdos con la Asociación Española de Síndrome Wolf-Hirschhorn (AESWH). La información clínica de los pacientes se obtuvo mediante dos cuestionarios estandarizados que fueron cumplimentados por médicos de referencia y los padres, siendo completados y corroborados con los distintos informes médicos de cada paciente y, al menos, una entrevis- ta una entrevista a los padres. La caracterización molecular de la enfermedad se realizó mediante el uso de microarrays de SNP (del inglés, single nucleotide polymorphism) (CytoSNP 850K, Illumina). Los datos se trataron estadísiticamente utilizando los softwares Microsoft Excel (Microsoft Corporation) y SPSS (IBM), mediante las comparaciones entre dos grupos s con la prueba t de Student (para variables continuas) o con pruebas de Chi cuadrado (para las categóricas). Para más de dos grupos se realizó análisis ANOVA (seguido de las pruebas post hoc de Bonferroni o T3-Dunnett) para variables continuas y pruebas z entre proporciones de columna para variables categóricas. RESULTADOS // En España (hasta 2021) están diagnosticadas ochenta personas con este síndrome, estimándose su prevalencia en 1,69x10-4 por cada 10.000 habitantes y/o 1/172.904 por cada recién nacido vivo. En este trabajo se constató la existencia de importantes diferencias de prevalencia entre las comunidades autónomas de nuestro país. La comunidad con más pacientes diagnosticados fue Madrid, aunque la mayor prevalencia se observó en Asturias. Se establecieron diferencias estadísticamente significativas en cuanto al sexo y la enfermedad (proporción de mujeres sobre varones de 2:1), así como se estableció la edad media al diagnóstico en 7,20 años. CONCLUSIONES // La prevalencia de este síndrome en España se estima muy por debajo de la prevalencia que se maneja en los textos científicos (1 por cada 50.000 recién nacidos). Adicionalmente, hemos determinado que esta prevalencia muestra grandes dife- rencias geográficas, lo que nos permite afirmar que este síndrome podría encontrarse infra-diagnosticado en nuestro país. La mayor parte de los pacientes incluidos en esta cohorte se encuentran en edad pediátrica. No se ha podido corroborar que la mortalidad en este síndrome, en nuestra población, ocurra preferentemente durante los dos primeros años de vida, como se venía afirmando.BACKGROUND // Wolf-Hirschhorn syndrome is a rare disease of genetic origin caused by the deletion of the distal end of chromo- some 4, including at least the region p16.3. The objectives of this work were to determine the prevalence of the disease in the Spanish population, as well as to establish the geographical distribution of the syndrome throughout the Spanish geography, elucidating the age range in which there are more patients. METHODS // Patients diagnosed with the disease for nine years (2013-2021) throughout the Spanish territory were recruited for the research, thanks to agreements with the Spanish Association of Wolf-Hirschhorn Syndrome (AESWH). The clinical information of the patients was obtained from referring physicians using two standardized questionnaires completed with data from medical reports and the parent interview. The molecular characterization of the disease was made using SNP (single nucleotide polymorphism) microarrays (cytoSNP850K, Illumina, USA). The data were statistically processed using Microsoft Excel (Microsoft Corporation) and SPSS (IBM) software, using comparisons between two groups s with Student’s t-test (for continuous variables) or with Chi-square tests (for categorical ones). For more than two groups, ANOVA analyses were performed (followed by Bonferroni or T3-Dunnett post hoc tests) for continuous varia- bles and z-tests between column proportions for categorical variables. RESULTS // In Spain (until 2021) eighty people are diagnosed with this syndrome, estimating its prevalence at 1.69x10-4 per 10,000 inhabitants and / or 1/172,904 for each live newborn. This paper remarks the existence of important differences in prevalence between the different regions in Spain. The region with the most diagnosed patients was Madrid, although the highest prevalence was obser- ved in Asturias. Significant differences have been established in terms of sex and disease (ratio of women to men of 2:1), and the mean age at diagnosis has been established at 7.20 years. CONCLUSIONS // The prevalence of this syndrome in Spain has been estimated well below the prevalence that is handled in scien- tific texts (1/50,000 newborns). In addition, we have determined that this prevalence shows large geographical differences, which allows us to affirm that this syndrome could be under-diagnosed in our country. Most of the patients included in this cohort are of paediatric age. It has not been possible to corroborate that mortality in this syndrome, in our population, occurs preferably during the first two years of life, as has been claimedDepto. de Investigación y Psicología en EducaciónFac. de EducaciónTRUEpu

Evolution content in school textbooks

Background Evolution is a unifying theme in biology and its understanding is essential to address sustainability problems. However, many people across the world do not understand evolution. Textbooks are among the most widely used educational resources and the way they depict evolution may greatly impact students’ scientific literacy in evolution. In this paper we investigate which evolution concepts are addressed in European science textbooks, from the 1st to the 9th grade. A content analysis using the "Framework for the Assessment of school Curricula on the presence of Evolutionary concepts", was performed on textbooks from eight European countries: Belgium, Cyprus, Czech Republic, Greece, Italy, Netherlands, Portugal and Slovenia. At least two experienced coders per country independently analysed the texts, images and activities, discussed the results and reached a final consensus. Results Our results show that textbooks lack or rarely address concepts considered important for evolution understanding, notably the processes driving evolution and their daily life implications, limiting opportunities for education for sustainability. Conclusions We recommend that science textbooks emphasize evolution and its processes since the first school years. This recommendation is particularly relevant for the analysed textbooks from Cyprus and Belgium, that cover less than 45% of the concepts important to evolution literacy