Children\u27s knowledge and attitudes towards sea turtles in Colola, Michoacan, Mexico

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A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype‐phenotype correlations

Autosomal recessive congenital ichthyoses (ARCI) have been associated with different phenotypes including: harlequin ichthyosis (HI), congenital ichthyosiform erythroderma (CIE), and lamellar ichthyosis (LI). While pathogenic variants in all ARCI genes are associated with LI and CIE phenotypes, the unique gene associated with HI is ABCA12. In HI, the most severe ARCI form, pathogenic variants in both ABCA12 gene alleles usually have a severe impact on protein function. The presence of at least one non-truncating variant frequently causes a less severe congenital ichthyosis phenotype (LI and CIE). METHODS: We report the case of a 4-year-old Ecuadorian boy with a severe skin disease. Genetic diagnosis was performed by NGS. In silico predictions were performed using Alamut software v2.11. A review of the literature was carried out to identify all patients carrying ABCA12 splice-site and missense variants, and to explore their genotype-phenotype correlations. RESULTS: Genetic testing revealed a nonsense substitution, p.(Arg2204*), and a new missense variant, p.(Val1927Leu), in the ABCA12 gene. After performing in silico analysis and a comprehensive review of the literature, we conclude that p.(Val1927Leu) affects a well conserved residue which could either disturb the protein function or alter the splicing process, both alternatives could explain the severe phenotype of our patient. CONCLUSION: This case expands the spectrum of ABCA12 reported disease-causing variants which is important to unravel genotype-phenotype correlations and highlights the importance of missense variants in the development of HI. © 2019 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.Fundación Ramón ArecesInstituto de Salud Carlos IIIXunta de GaliciaUniversidad Espíritu Santo-Ecuado

Additional information delivery to image content via improved unseen–visible watermarking

In a practical watermark scenario, watermarks are used to provide auxiliary information; in this way, an analogous digital approach called unseen–visible watermark has been introduced to deliver auxiliary information. In this algorithm, the embedding stage takes advantage of the visible and invisible watermarking to embed an owner logotype or barcodes as watermarks; in the exhibition stage, the equipped functions of the display devices are used to reveal the watermark to the naked eyes, eliminating any watermark exhibition algorithm. In this paper, a watermark complement strategy for unseen–visible watermarking is proposed to improve the embedding stage, reducing the histogram distortion and the visual degradation of the watermarked image. The presented algorithm exhibits the following contributions: first, the algorithm can be applied to any class of images with large smooth regions of low or high intensity; second, a watermark complement strategy is introduced to reduce the visual degradation and histogram distortion of the watermarked image; and third, an embedding error measurement is proposed. Evaluation results show that the proposed strategy has high performance in comparison with other algorithms, providing a high visual quality of the exhibited watermark and preserving its robustness in terms of readability and imperceptibility against geometric and processing attacks

Biogeographical origin and timing of the founder ichthyosis TGM1 c.1187G > A mutation in an isolated Ecuadorian population

An unusually high frequency of the lamellar ichthyosis TGM1 mutation, c.1187G > A, has been observed in the Ecuadorian province of Manabi. Recently, the same mutation has been detected in a Galician patient (Northwest of Spain). By analyzing patterns of genetic variation around this mutation in Ecuadorian patients and population matched controls, we were able to estimate the age of c.1187G > A and the time to their most recent common ancestor (TMRCA) of c.1187G > A Ecuadorian carriers. While the estimated mutation age is 41 generations ago (~1,025 years ago [ya]), the TMRCA of Ecuadorian c.1187G > A carrier haplotypes dates to just 17 generations (~425 ya). Probabilistic-based inferences of local ancestry allowed us to infer a most likely European origin of a few (16% to 30%) Ecuadorian haplotypes carrying this mutation. In addition, inferences on demographic historical changes based on c.1187G > A Ecuadorian carrier haplotypes estimated an exponential population growth starting ~20 generations, compatible with a recent founder effect occurring in Manabi. Two main hypotheses can be considered for the origin of c.1187G > A: (i) the mutation could have arisen in Spain >1,000 ya (being Galicia the possible homeland) and then carried to Ecuador by Spaniards in colonial times ~400 ya, and (ii) two independent mutational events originated this mutation in Ecuador and Galicia. The geographic and cultural characteristics of Manabi could have favored a founder effect that explains the high prevalence of TGM1 c.1187G > A in this region

UNA COMPARACIÓN DE REDUCCIÓN DE RUIDO EN IMÁGENES DIGITALES UTILIZANDO UN MODELADO ESTADÍSTICO DE COEFICIENTES WAVELET Y FILTRADO DE WIENER

Este trabajo presenta un método de disminución de ruido en imágenes digitales, basado en un enfoque Bayesiano de dos etapas con ajuste empírico. Se estiman los coeficientes de una transformada wavelet de la imagen donde se ha reducido el ruido, utilizando una estimación lineal con un criterio de minimización del error cuadrático medio. Estos coeficientes constituyen una estimación deseable de la varianza de los coeficientes wavelet de la imagen libre de ruido

Prevalence and Associated Factors of Low Bone Mineral Density in the Femoral Neck and Total Hip in Axial Spondyloarthritis: Data from the CASTRO Cohort

Studies on osteoporosis in axial spondyloarthritis (axSpA) have focused on the lumbar segment, and few studies have assessed bone mineral density (BMD) in the hip and femoral neck in these patients. The aim of this study was to evaluate the prevalence of low BMD and osteopenia in the total hip or femoral neck and the factors associated with these conditions in axSpA patients. This was a single-centre, observational, cross-sectional study among consecutive patients with axSpA according to the ASAS criteria from the CASTRO registry. All patients underwent total hip and femoral neck DXA BMD measurements. Low BMD was defined as a Z-score less than −1, and osteopenia was defined as a T-score less than −1. Multivariate logistic and generalised linear regressions were used to evaluate factors independently associated with low BMD and osteopenia in the hip or femoral neck and those associated with variability in BMD, respectively. A total of 117 patients were included, among which 30.8% were female and the mean age was 45 years. A total of 36.0% of patients had low BMD (28.1% in the total hip and 27.4% in the femoral neck), and 56.0% of patients had osteopenia (44.7% in the total hip and 53.8% in the femoral neck). A multivariate logistic regression showed that age, radiographic sacroiliitis and ASAS-HI were independently associated with low BMD in the total hip or femoral neck. Factors that were independently associated with osteopenia were Body Mass Index, disease duration, radiographic sacroiliitis and ASAS-HI. In conclusion, 36% of the patients with axSpA had low BMD in the total hip or femoral neck. A younger age and radiographic sacroiliitis were the most important factors associated with decreased BMD

Correction of recessive dystrophic epidermolysis bullosa by homology-directed repair-mediated genome editing

Genome-editing technologies that enable the introduction of precise changes in DNA sequences have the potential to lead to a new class of treatments for genetic diseases. Epidermolysis bullosa (EB) is a group of rare genetic disorders characterized by extreme skin fragility. The recessive dystrophic subtype of EB (RDEB), which has one of the most severe phenotypes, is caused by mutations in COL7A1. In this study, we report a gene-editing approach for ex vivo homology-directed repair (HDR)-based gene correction that uses the CRISPR-Cas9 system delivered as a ribonucleoprotein (RNP) complex in combination with donor DNA templates delivered by adeno-associated viral vectors (AAVs). We demonstrate sufficient mutation correction frequencies to achieve therapeutic benefit in primary RDEB keratinocytes containing different COL7A1 mutations as well as efficient HDR-mediated COL7A1 modification in healthy cord blood-derived CD34+ cells and mesenchymal stem cells (MSCs). These results are a proof of concept for HDR-mediated gene correction in different cell types with therapeutic potential for RDEB.This work was supported by Spanish grants PI17/01747, PI20/00615, AC17/00054 (MutaEB-E-rare), and CIBERER ER18TRL714 from the Instituto de Salud Carlos III and grant SAF2017-86810-R from the Ministry of Economy and Competitiveness , all co-funded with European Regional Development Funds , and Avancell-CM grant ( S2017/BMD-3692 ). Authors are indebted to Almudena Holguín and Nuria Illera for grafting experiments, and to Jesus Martínez and Edilia De Almeida for animal maintenance and care

Desde el pacífico a la foresta tropical: redes de interacción social en el desierto de atacama durante el pleistoceno final

The social groups that initially inhabited the hyper arid core of the Atacama Desert of northern Chile during the late Pleistocene integrated a wide range of local, regional and supra regional goods and ideas for their social reproduction as suggested by the archaeological evidence contained in several open camps in Pampa del Tamarugal (PdT). Local resources for maintaining their every-day life, included stone raw material, wood, plant and animal fibers, game, and fresh water acquired within a radius of ∼30 km (ca. 1-2 days journey). At a regional scale, some goods were introduced from the Pacific coast (60-80 km to the west, ca. 3-4 days journey), including elongated rounded cobbles used as hammer stones in lithic production, and shells, especially from non-edible species of mollusks. From the Andes (ranging 80-150 km to the east, ca. 5-8 days of journey), they obtained camelid fiber, obsidian and a high-quality chalcedony, in addition to sharing knowledge on projectile point designs (Patapatane and Tuina type forms). Pieces of wood of a tropical forest tree species (Ceiba spp.) from the east Andean lowlands (600 km away, ca. 30 days of journey) were also brought to the PdT. While local goods were procured by the circulation of people within the PdT, the small number of foreign items would have been acquired through some sort of exchange networks that integrated dispersed local communities throughout several ecosystems. These networks may have been a key factor behind the success exhibited by these early huntergatherers in the hyper arid ecosystems of the Atacama Desert at the end of the Pleistocene. Different lines of archaeological evidence including open camps, workshop-quarries, lithic artifacts, archaeofaunal remains, plant and animal fibers and textiles, archaeobotanical remains, and paleoecological data show that people of the PdT managed a wide range of cultural items from the Pacific coast, the Andean highland and the tropical forest, that were integrated with resources gathered locally within the socio-cultural systems established by the end of the Pleistocene. These results are interpreted as material expressions of multi-scalar networking for resource management and other social material and immaterial requirements, which in other words, means that these people were actively connected to regional (coastal and highland), and supra-regional (trans-Andean) exchange networks from and out of the PdT.Los grupos sociales que inicialmente habitaban el núcleo hiperárido del Desierto de Atacama en el norte de Chile durante el Pleistoceno tardío integraron una amplia gama de bienes e ideas, locales, regionales y supra regionales, para su reproducción social, como lo sugieren las evidencias arqueológicas materiales recuperadas en varios campamentos al aire libre en Pampa del Tamarugal (PdT). Los recursos locales para mantener su vida diaria, incluían materias primas líticas, fibras de plantas y animales, presas de caza y agua dulce adquiridos en un radio de ̴30 km (ca. 1-2 días de viaje). A escala regional, se introdujeron algunos elementos desde la costa del Pacífico (60-80 km hacia el oeste, ca. 3 a 4 días de viaje), incluidos rodados redondeados alargados, utilizados como percutores en la producción lítica y conchas, especialmente de especies no comestibles de moluscos. Desde los Andes (80-150 km al este, ca. 5-8 días de viaje), obtuvieron fibra de camélido, obsidiana y una calcedonia de alta calidad, además de compartir conocimientos sobre diseños de puntas de proyectil (tipo Patapatane y Tuina). También se llevaron a la PdT trozos de madera de una especie de árbol de los bosques tropicales (Ceiba spp.) de las tierras bajas al este de los Andes (600 km de distancia, ca. 30 días de viaje). Mientras que los bienes locales fueron adquiridos por la circulación de personas dentro de la PdT, el pequeño número de artículos foráneos se adquirieron a través de redes de intercambio que integraron comunidades locales dispersas en varios ecosistemas; lo que debió ser un factor clave detrás del éxito demostrado por estos primeros cazadores-recolectores en los ecosistemas hiperáridos del Desierto de Atacama hacia el final del Pleistoceno. Diferentes líneas de evidencia arqueológica que incluyen campamentos al aire libre, talleres, canteras, artefactos líticos, restos arqueofaunales, fibras y textiles de plantas y animales, restos arqueobotánicos y datos paleoecológicos, muestran que la gente de la PdT manejaron una amplia gama de elementos culturales desde la costa del Pacífico, el altiplano andino y el bosque tropical, que se integraron a los recursos recolectados localmente dentro de los sistemas socioculturales establecidos al final del Pleistoceno. Estos resultados se interpretan como una expresión material de una red de múltiples escalas para la gestión de recursos y otros requisitos sociales e inmateriales, lo que en otras palabras, significaría que estos grupos sociales estaban conectados activamente con redes de interacción regionales (costa y tierras altas) y supra-regionales (transandinas) desde y hacia la PdT.Fil: Santoro, Calógero M.. Universidad de Tarapaca.; ChileFil: Gayo, Eugenia M.. Centro de Ciencia del Clima y la Resiliencia; Chile. Universidad de Concepción; ChileFil: Capriles Flores, Jose Mariano. State University of Pennsylvania; Estados UnidosFil: Rivadeneira Valenzuela, Marcelo Michel. Comisión Nacional de Investigación Científica y Tecnológica. Centro de Investigación Regional. Centro de Estudios en Zonas Áridas; Chile. Universidad Católica del Norte; Chile. Universidad de La Serena; ChileFil: Herrera, Katherine A.. Universite Paris Ouest Nanterre la Defense; Francia. Universidad de Tarapaca.; ChileFil: Mandakovic, Valentina. No especifíca;Fil: Rallo, Mónica. No especifíca;Fil: Rech, Jason A.. University of Miami; Estados UnidosFil: Cases, Bárbara. Universidad de Tarapaca.; ChileFil: Briones, Luis. Museo Municipalidad de Pica; ChileFil: Olguín, Laura. Universidad Católica del Norte, San Pedro de Atacama; ChileFil: Valenzuela, Daniela. Universidad de Tarapaca.; ChileFil: Borrero, Luis Alberto. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Saavedra 15. Instituto Multidisciplinario de Historia y Ciencias Humanas; ArgentinaFil: Ugalde, Paula C.. University of Arizona; Estados Unidos. Universidad de Tarapaca.; ChileFil: Rothhammer, Francisco. Universidad de Tarapaca.; ChileFil: Latorre, Claudio. Pontificia Universidad Católica de Chile; Chile. Instituto de Ecología y Biodiversidad; ChileFil: Szpak, Paul. Trent University; Canad

Clinically Actionable Hypercholesterolemia and Hypertriglyceridemia in Children with Nonalcoholic Fatty Liver Disease

OBJECTIVE: To determine the percentage of children with nonalcoholic fatty liver disease (NAFLD) in whom intervention for low-density lipoprotein cholesterol or triglycerides was indicated based on National Heart, Lung, and Blood Institute guidelines. STUDY DESIGN: This multicenter, longitudinal cohort study included children with NAFLD enrolled in the National Institute of Diabetes and Digestive and Kidney Diseases Nonalcoholic Steatohepatitis Clinical Research Network. Fasting lipid profiles were obtained at diagnosis. Standardized dietary recommendations were provided. After 1 year, lipid profiles were repeated and interpreted according to National Heart, Lung, and Blood Institute Expert Panel on Integrated Guidelines for Cardiovascular Health and Risk Reduction. Main outcomes were meeting criteria for clinically actionable dyslipidemia at baseline, and either achieving lipid goal at follow-up or meeting criteria for ongoing intervention. RESULTS: There were 585 participants, with a mean age of 12.8 years. The prevalence of children warranting intervention for low-density lipoprotein cholesterol at baseline was 14%. After 1 year of recommended dietary changes, 51% achieved goal low-density lipoprotein cholesterol, 27% qualified for enhanced dietary and lifestyle modifications, and 22% met criteria for pharmacologic intervention. Elevated triglycerides were more prevalent, with 51% meeting criteria for intervention. At 1 year, 25% achieved goal triglycerides with diet and lifestyle changes, 38% met criteria for advanced dietary modifications, and 37% qualified for antihyperlipidemic medications. CONCLUSIONS: More than one-half of children with NAFLD met intervention thresholds for dyslipidemia. Based on the burden of clinically relevant dyslipidemia, lipid screening in children with NAFLD is warranted. Clinicians caring for children with NAFLD should be familiar with lipid management

Transcriptomic profiling of urine extracellular vesicles reveals alterations of CDH3 in prostate cancer

Extracellular vesicles (EV) are emerging structures with promising properties for intercellular communication. In addition, the characterization of EV in biofluids is an attractive source of non-invasive diagnostic, prognostic and predictive biomarkers. Here we show that urinary EV (uEV) from prostate cancer (PCa) patients exhibit genuine and differential physical and biological properties compared to benign prostate hyperplasia (BPH). Importantly, transcriptomics characterization of uEVs led us to define the decreased abundance of Cadherin 3, type 1 (CDH3) transcript in uEV from PCa patients. Tissue and cell line analysis strongly suggested that the status of CDH3 in uEVs is a distal reflection of changes in the expression of this cadherin in the prostate tumor. CDH3 was negatively regulated at the genomic, transcriptional, and epigenetic level in PCa. Our results reveal that uEVs could represent a non-invasive tool to inform about the molecular alterations in PCa