Snijders Blok-Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review.

Snijders Blok-Campeau syndrome (SNIBCPS, OMIM# 618205) is an extremely infrequent disease with only approximately 60 cases reported so far. SNIBCPS belongs to the group of neurodevelopmental disorders (NDDs). Clinical features of patients with SNIBCPS include global developmental delay, intellectual disability, speech and language difficulties and behavioral disorders like autism spectrum disorder. In addition, patients with SNIBCPS exhibit typical dysmorphic features including macrocephaly, hypertelorism, sparse eyebrows, broad forehead, prominent nose and pointed chin. The severity of the neurological effects as well as the presence of other features is variable among subjects. SNIBCPS is caused likely by pathogenic and pathogenic variants in CHD3 (Chromodomain Helicase DNA Binding Protein 3), which seems to be involved in chromatin remodeling by deacetylating histones. Here, we report 20 additional patients with clinical features compatible with SNIBCPS from 17 unrelated families with confirmed likely pathogenic/pathogenic variants in CHD3. Patients were analyzed by whole exome sequencing and segregation studies were performed by Sanger sequencing. Patients in this study showed different pathogenic variants affecting several functional domains of the protein. Additionally, none of the variants described here were reported in control population databases, and most computational predictors suggest that they are deleterious. The most common clinical features of the whole cohort of patients are global developmental delay (98%) and speech disorder/delay (92%). Other frequent features (51-74%) include intellectual disability, hypotonia, hypertelorism, abnormality of vision, macrocephaly and prominent forehead, among others. This study expands the number of individuals with confirmed SNIBCPS due to pathogenic or likely pathogenic variants in CHD3. Furthermore, we add evidence of the importance of the application of massive parallel sequencing for NDD patients for whom the clinical diagnosis might be challenging and where deep phenotyping is extremely useful to accurately manage and follow up the patients.

Transforming patient care by introducing an electronic medical records initiative in a developing country.

The incorporation of an electronic medical record into patient care is a priority in developed countries, but faces significant obstacles for adoption in developing countries. The goal of our study was to define and assess the efficiency of a personalized intervention on village physicians' use of electronic medical records in rural community health services of underprivileged areas. Six towns were selected with two bordering local health stations from each town. One was randomly given to the intervention group and the other to the control group. A structured on-site intervention was provided to village physicians in the intervention group, for 7 months. The results showed that in the intervention group, the percentage of households with complete records increased. The percentage of clinic medical records and complete child vaccination in the intervention group also increased from 2 to 14 percent (p = <0.05) and from 10 to 23 percent (p = 0.05), respectively. Our investigation demonstrated that on-site education, supervision, and technical support directly correlate with improved use of electronic medical record. Our results report the challenges in implementing such a system and the steps being taken to enhance likelihood of sustainability.

Estado actual del cribado prenatal de cromosomopatías en España: resultados encuesta SEQC 2013 / Present situation of prenatal screening of chromosomopathies in Spain: SEQC survey results 2013

En los últimos 30 años se han desarrollado numerosas estrategias de cribado prenatal de aneuploidías mediante marcadores bioquímicos y/o ecográficos. En España no existió una política uniforme y global para el cribado prenatal hasta que, en 2005, la Sociedad Española de Ginecología y Obstetricia (SEGO) recomendó descartar la EM avanzada como única indicación para realizar prueba invasiva y propuso implantar el test combinado en todo el territorio español. Sin embargo, no hay evidencias de que exista una estrategia común. Además, los recientes avances en tecnología genómica han abierto las puertas al desarrollo de nuevas estrategias de cribado basadas en el uso del ADN fetal en sangre materna. A la espera de evidencias objetivas sobre la eficacia de estas nuevas estrategias no invasivas en población de bajo riesgo, sería muy deseable conocer la eficacia de los cribados actuales para comparar con las estrategias futuras y, sobre todo, para tener en cuenta algunas recomendaciones recientes en nuestro país. El presente trabajo describe la situación actual del cribado prenatal de aneuploidías en España, mediante el análisis de los datos recogidos en un sondeo en el que participaron 97 centros públicos y privados que realizan cribado de cromosomopatías en nuestras comunidades autónomas. Con este estudio, el grupo de trabajo de Diagnóstico Prenatal de la SEQC pretende animar a la coordinación y el diálogo de todos los implicados en los procesos de cribado prenatal de aneuploidías, con vistas a consensuar los protocolos existentes en las distintas autonomías (AU)

During the last 30 years, numerous strategies for prenatal screening of aneuploidies have been developed using sonographic and biochemical markers. In Spain, there were no uniform and global prenatal screening strategies in the different autonomous communities until 2005, when the Sociedad Española de Ginecología y Obstetricia (SEGO) recommended avoiding advanced maternal age as a unique indication for an invasive test and proposed the first trimester combined test implementation. However, there is no evidence yet that a uniform strategy exists. Moreover, the recent advances on genomics have open up the door to the development of new screening strategies based on using fetal DNA recovered from maternal blood. Waiting for objective evidences about the efficacy of these new non-invasive strategies in low-risk population, it would be desirable to know the efficacy of present screening programs to compare them with future strategies and, to pay attention to some recent recommendations in our country. The present work describes the present situation of prenatal screening of aneuploidies in Spain, by analysing data from a survey on 97 public and private centers envolved on chromosomopathies screening in our autonomic communities. With this study, the Prenatal Diagnosis workgroup of the SEQC aims to impulse the coordination and the dialog of all agents implicated into aneuploidies prenatal screening programs in order to achieve a consensued protocol along the different autonomies (AU)

Estudio químico-bromatológico del "apio" (Apium Graveolands L.) liofilizado y fresca / Chemical bromatologic study of \"apio\"(Apium Graveolens L.) fresh and liophilizaded

Por su contenido en calcio, fósforo, fierro, el producto fresco del "apio", tiene un poder mineralizante apreciable, constituyendo también una fuente de vitaminas. El apio liofilizado es altamente higroscópico debido a su elevada parasidad y bajo contenido de humedad residual. El apio liofilizado en la evaluación organoléptica tiene un alto grado de aceptabilidad casi similar al producto fresco. Mediante los resultados obtenidos, la temperatura óptima de rehidratación es de 100ºC, alcanzando un 89 por ciento, en el producto liofilizado, produciendo una menor rehidratación a 60ºC y 20ºC respectivamente. La liofilización es un sistema eficaz para observar la sobreproducción agrícolas, permitiendo una reducción de peso, haciendo el costo de transporte más económico alargando a su vez el período de vida, siempre que estén protegidos convenientemente.