Search

San José, CIHAC/CALACS, 2020, 100 p, https://repositorios.cihac.fcs.ucr.ac.cr/repositorio/handle/123456789/590

Esta nota es una reseña de la obra de Araceli Tinajero, Historia cultural de los hispanohablantes en Japón. New York: Escribana, 2019, pp. 305.

Reseña en galego

Introduction: Prenatal ultrasound (US) anomalies are detected in around 5%–10% of pregnancies. In prenatal diagnosis, exome sequencing (ES) diagnostic yield ranges from 6% to 80% depending on the inclusion criteria. We describe the first French national multicenter pilot study aiming to implement ES in prenatal diagnosis following the detection of anomalies on US.Patients and methods: We prospectively performed prenatal trio-ES in 150 fetuses with at least two US anomalies or one US anomaly known to be frequently linked to a genetic disorder. Trio-ES was only performed if the results could influence pregnancy management. Chromosomal microarray (CMA) was performed before or in parallel.Results: A causal diagnosis was identified in 52/150 fetuses (34%) with a median time to diagnosis of 28 days, which rose to 56/150 fetuses (37%) after additional investigation. Sporadic occurrences were identified in 34/56 (60%) fetuses and unfavorable vital and/or neurodevelopmental prognosis was made in 13/56 (24%) fetuses. The overall diagnostic yield was 41% (37/89) with first-line trio-ES versus 31% (19/61) after normal CMA. Trio-ES and CMA were systematically concordant for identification of pathogenic CNV.Conclusion: Trio-ES provided a substantial prenatal diagnostic yield, similar to postnatal diagnosis with a median turnaround of approximately 1 month, supporting its routine implementation during the detection of prenatal US anomalies.

El punto de partida de este libro es bastante original: de hecho, se basa en los guiones de las conferencias dictadas por el profesor de romance Ottmar Ette durante más de veinticinco años en la Universidad de Potsdam. Animado por su mujer Doris, él ya ha publicado un primer volumen relativo a la literatura de los siglos XX y XXI, otro volumen está dedicado a la literatura de viajes, otro al amor. Para el presente volumen, se ha centrado en el siglo XIX. Como indica en su introducción, no tiende a ser exhaustivo sino que adopta un sesgo: enfatizar el romanticismo de manera transcultural.

O libro que aquí nos entregan é o resultado dunha tese de doutoramento defendida na Universidade de Coimbra, a máis antiga de Portugal, a que inspirou a saga británica de Harry Potter. Para o título, a autora, Clara Isabel Calheiros da Silva de Melo Serrano, utiliza unha cita dun artigo de Augusto de Castro Sampaio Corte Real. Atópase en Imagens da Europa, vistas da minha janela e resume ben o oxímoro que reúne as profesións de xornalista e diplomático que exerceu: a combinación de retórica e silencio. Esta monografía arroxa luz sobre unha figura controvertida da historia portuguesa. Agradeceremos a cronoloxía final que nos permite buscar o noso camiño. Ademais, as fontes tamén están ben clasificadas, o que facilitará futuras investigacións sobre o personaxe. Esta obra pode ser criticada ás veces por digresións sobre os seus contemporáneos ou sobre circunstancias históricas.

Reseña bibliográfica

Anmeldelse af Modalidades de memoria y archivos afectivos: Cine de mujeres en Centroamérica.

Purpose: Patients with rare or ultra-rare genetic diseases, which affect 350 million people worldwide, may experience a diagnostic odyssey. High-throughput sequencing leads to an etiological diagnosis in up to 50% of individuals with heterogeneous neurodevelopmental or malformation disorders. There is a growing interest in additional omics technologies in translational research settings to examine the remaining unsolved cases.Methods: We gathered 30 individuals with malformation syndromes and/or severe neurodevelopmental disorders with negative trio exome sequencing and array comparative genomic hybridization results through a multicenter project. We applied short-read genome sequencing, total RNA sequencing, and DNA methylation analysis, in that order, as complementary translational research tools for a molecular diagnosis.Results: The cohort was mainly composed of pediatric individuals with a median age of 13.7 years (4 years and 6 months to 35 years and 1 month). Genome sequencing alone identified at least one variant with a high level of evidence of pathogenicity in 8/30 individuals (26.7%) and at least a candidate disease-causing variant in 7/30 other individuals (23.3%). RNA-seq data in 23 individuals allowed two additional individuals (8.7%) to be diagnosed, confirming the implication of two pathogenic variants (8.7%), and excluding one candidate variant (4.3%). Finally, DNA methylation analysis confirmed one diagnosis identified by genome sequencing (Kabuki syndrome) and identified an episignature compatible with a BAFopathy in a patient with a clinical diagnosis of Coffin-Siris with negative genome and RNA-seq results in blood.Conclusion: Overall, our integrated genome, transcriptome, and DNA methylation analysis solved 10/30 (33.3%) cases and identified a strong candidate gene in 4/30 (13.3%) of the patients with rare neurodevelopmental disorders and negative exome sequencing results.

Abstract Background Uncomplicated urinary tract infection (uUTI) is very common among women in primary care. The risk of developing pyelonephritis remains low after uUTI, nonetheless, empiric antibiotic therapy is frequently prescribed for symptomatic purposes. This may lead to adverse effects and antibiotic resistance. Furthermore, patients may express the will to limit the use of antibiotics. Some European countries recommend discussing a delayed prescription with the patient and developing a shared decision. The aim of this study is to create a patient decision aid (PtDA) used in primary care settings to make a shared decision between practitioners and women about whether or not to treat uUTI with antibiotics. Methods We followed the steps recommended by the International Patient Decision Aids Standards, with a scoping phase, a design phase (including focus groups and literature review), and an alpha-testing phase. A steering group, made of patients and physicians, met throughout the study to develop a prototype PtDA. Results The information included in the PtDA is the definition of uUTI, information on the options, their benefits, risks, and consequences, based on a review of the literature. The results of the focus group made possible to determine the patient’s values and preferences to consider in decision-making, including: the discomfort felt, the impact on daily life, patients’ perceptions of antibiotics, and the position relative to the risk of adverse effect. The choices in presentation, organisation and design are the result of the work of the steering group, improved by feedback from alpha testing. We confirmed the need for shared decision-making and the equipoise in this situation. Conclusions We developed a PtDA to be used in primary care for sharing decision on the use of antibiotic in uUTI. It needs to be validated in a beta-testing phase, with complementary advice from peers, and then tested in a clinical study comparing its use with the systematic prescription approach.

The MOF acetyltransferase-containing Non-Specific Lethal (NSL) complex is a broad transcription regulator and haploinsufficiency of its KANSL1 subunit results in the Koolen-de Vries syndrome in humans. Here, the authors identify the BET protein BRD4 as evolutionary conserved co-factor of the NSL complex and provide evidence that NSL-deposited histone acetylation induces BRD4 recruitment for transcription of constitutively active genes.

Recensione di: Mateu, S. (2015). Intimisme et identité dans l’œuvre picturale de Santiago Rusiñol i Prats, peintre catalan (1861-1931) [thèse de doctorat]. Montpellier; Toulouse: IRIEC - Institut de Recherche Intersite Études Culturelles, 292 pp.

Abstract Background Deleterious variants in the voltage-gated sodium channel type 2 (Nav1.2) lead to a broad spectrum of phenotypes ranging from benign familial neonatal-infantile epilepsy (BFNIE), severe developmental and epileptic encephalopathy (DEE) and intellectual disability (ID) to autism spectrum disorders (ASD). Yet, the underlying mechanisms are still incompletely understood. Methods To further elucidate the genotype-phenotype correlation of SCN2A variants we investigated the functional effects of six variants representing the phenotypic spectrum by whole-cell patch-clamp studies in transfected HEK293T cells and in-silico structural modeling. Results The two variants p.L1342P and p.E1803G detected in patients with early onset epileptic encephalopathy (EE) showed profound and complex changes in channel gating, whereas the BFNIE variant p.L1563V exhibited only a small gain of channel function. The three variants identified in ID patients without seizures, p.R937C, p.L611Vfs*35 and p.W1716*, did not produce measurable currents. Homology modeling of the missense variants predicted structural impairments consistent with the electrophysiological findings. Conclusions Our findings support the hypothesis that complete loss-of-function variants lead to ID without seizures, small gain-of-function variants cause BFNIE and EE variants exhibit variable but profound Nav1.2 gating changes. Moreover, structural modeling was able to predict the severity of the variant impact, supporting a potential role of structural modeling as a prognostic tool. Our study on the functional consequences of SCN2A variants causing the distinct phenotypes of EE, BFNIE and ID contributes to the elucidation of mechanisms underlying the broad phenotypic variability reported for SCN2A variants.

Abstract is missing (Short communication)

Abstract Background Variable size deletions affecting 12q12 have been found in individuals with neurodevelopmental disorders (NDDs) and distinct facial and physical features. For many genetic loci affected by deletions in individuals with NDDs, reciprocal duplications have been described. However, for the 12q12 region, there are no detailed descriptions of duplication cases in the literature. Methods We report a phenotypic description of a family with monozygotic twins diagnosed with NDDs, carrying a 9 Mb duplication at 12q12, and five other individuals with overlapping duplications ranging from 4.54 Mb up to 15.16 Mb. Results The duplication carriers had language delays, cognitive delays, and were diagnosed with autism spectrum disorder. Additionally, distinct facial features (e.g., high foreheads, deeply set eyes, short palpebral fissures, small ears, high nasal bridges, abnormalities of the nose tip, thin lips), large feet, and abnormalities in the digits were noted. We also describe incomplete penetrance of the NDD phenotypes among the individuals with 12q12 duplication. Conclusion This case series expands our knowledge on this rare genetic aberration and suggests that large 12q12 duplications may increase the risk for developing NDDs.