Clinical findings associated with a de novo partial trisomy 10p11.22p15.3 and monosomy 7p22.3 detected by chromosomal microarray analysis.

We present the case of an 18-month-old boy with dysmorphic facial features, developmental delay, growth retardation, bilateral clubfeet, thrombocytopenia, and strabismus, whose array CGH analysis revealed concurrent de novo trisomy 10p11.22p15.3 and monosomy 7p22.3. We describe the patient's clinical presentation, along with his cytogenetic analysis, and we compare the findings to those of similar case reports in the literature. We also perform a bioinformatic analysis in the chromosomal regions of segmental aneuploidy to find genes that could potentially explain the patient's phenotype

Cytogenetic analysis and FISH of terminal deletion of the long arm of chromosome 9 in a patient with acute promyelocytic leukemia.

Deletions of the long arm of chromosome 9, del(9)(q22), are rare aberrations specifically found in acute myeloid leukemia (AML). Yamamoto et al, 1999, reported the first case of acute promyelocytic leukemia (APL) with a terminal 9q deletion as a sole abnormality. Here we describe the second case with the same aberration, the patient, an eleven-years-old girl with APL. Chromosomal analysis by the Giemsa R-banding technique and FISH using BCR/ABL and PML/RARA probe on short-term cell cultures from bone marrow was performed. A deletion of a 9 chromosome, del(9)(q22) was detected. Deletions of 9q have been described in about 3% to 4% of the AML patients, especially in M1 and M2 myeloid leukemia. Sole 9q terminal deletions, are less common than interstitial ones and involve q21~q22 band predominantly. A recent study suggests that 9q deletion, even in the absence of t(15;17), shows a relatively good prognosis. However, our patient died during the treatment

NeuroBoricuas: a novel approach for incorporating neuroscience education in schools of Puerto Rico

[EN] Puerto Rico is in dire need of transforming its education system to counter the current economic recession and ensure a future with talented Puerto Ricans at the forefront of scientific research and technology development.  Here we present a group of neuroscientists and educators, the NeuroBoricuas, committed to revolutionize the scientific culture of Puerto Rico by incorporating neuroscience research training and inquiry-based activities in public and private schools. We carry out our vision through diverse methods, such as community outreach activities, where we promote neuroscience literacy using diverse learning activities. In parallel, we are designing a neuroscience course and textbook with educators to be implemented in schools. We also established neuroscience laboratories in K-12 schools and trained science teachers to manage such laboratories, using equipment from the company “Backyard Brains”. These laboratory experiences are integrated into the academic curriculum in high schools and the equipment is also available for students interested in designing their independent research projects. Lastly, we are expanding a network of committed scientists who partner with educators to help nurture future neuroscientists early in their academic endeavors. Here, we describe our trajectory and our approach to transform scientific education in Puerto Rico.We thank Dr. Gregory J. Quirk, Dr. Daniel Colon-Ramos and Dr. Mark Miller for their support. We thank Tim Marzullo, from Backyard Brains, for supporting NeuroBoricuas. We also thank Palabreria, Digi-Serv and Puerto Rico 4.0 for their constant support. We thank all the NeuroBoricuas that selflessly work hard for a better Puerto Rico. This work has been supported by generous donations from the Puerto Rican people, a grant from the University of Puerto Rico Medical Sciences Campus’ Chancellor’s office, and the Grass Foundation.http://ocs.editorial.upv.es/index.php/HEAD/HEAD18Bravo-Rivera, C.; Díaz-Ríos, M.; Aldarondo-Hernández, A.; Santos-Vera, B.; Ramos-Medina, L.; De Jesús-Burgos, M.; Bravo-Rivera, H.... (2018). NeuroBoricuas: a novel approach for incorporating neuroscience education in schools of Puerto Rico. Editorial Universitat Politècnica de València. 1447-1455. https://doi.org/10.4995/HEAD18.2018.8223OCS1447145

Assessing copy number aberrations and copy neutral loss of heterozygosity across the genome as best practice: An evidence based review of clinical utility from the cancer genomics consortium (CGC) working group for myelodysplastic syndrome, myelodysplastic/myeloproliferative and myeloproliferative neoplasms

Multiple studies have demonstrated the utility of chromosomal microarray (CMA) testing to identify clinically significant copy number alterations (CNAs) and copy-neutral loss-of-heterozygosity (CN-LOH) in myeloid malignancies. However, guidelines for integrating CMA as a standard practice for diagnostic evaluation, assessment of prognosis and predicting treatment response are still lacking. CMA has not been recommended for clinical work-up of myeloid malignancies by the WHO 2016 or the NCCN 2017 guidelines but is a suggested test by the European LeukaemiaNet 2013 for the diagnosis of primary myelodysplastic syndrome (MDS). The Cancer Genomics Consortium (CGC) Working Group for Myeloid Neoplasms systematically reviewed peer-reviewed literature to determine the power of CMA in (1) improving diagnostic yield, (2) refining risk stratification, and (3) providing additional genomic information to guide therapy. In this manuscript, we summarize the evidence base for the clinical utility of array testing in the workup of MDS, myelodysplastic/myeloproliferative neoplasms (MDS/MPN) and myeloproliferative neoplasms (MPN). This review provides a list of recurrent CNAs and CN-LOH noted in this disease spectrum and describes the clinical significance of the aberrations and how they complement gene mutation findings by sequencing. Furthermore, for new or suspected diagnosis of MDS or MPN, we present suggestions for integrating genomic testing methods (CMA and mutation testing by next generation sequencing) into the current standard-of-care clinical laboratory testing (karyotype, FISH, morphology, and flow)

Assessing copy number abnormalities and copy-neutral loss-of-heterozygosity across the genome as best practice in diagnostic evaluation of acute myeloid leukemia: An evidence-based review from the cancer genomics consortium (CGC) myeloid neoplasms working group

Structural genomic abnormalities, including balanced chromosomal rearrangements, copy number gains and losses and copy-neutral loss-of-heterozygosity (CN-LOH) represent an important category of diagnostic, prognostic and therapeutic markers in acute myeloid leukemia (AML). Genome-wide evaluation for copy number abnormalities (CNAs) is at present performed by karyotype analysis which has low resolution and is unobtainable in a subset of cases. Furthermore, examination for possible CN-LOH in leukemia cells is at present not routinely performed in the clinical setting. Chromosomal microarray (CMA) analysis is a widely available assay for CNAs and CN-LOH in diagnostic laboratories, but there are currently no guidelines how to best incorporate this technology into clinical testing algorithms for neoplastic diseases including AML. The Cancer Genomics Consortium Working Group for Myeloid Neoplasms performed an extensive review of peer-reviewed publications focused on CMA analysis in AML. Here we summarize evidence regarding clinical utility of CMA analysis in AML extracted from published data, and provide recommendations for optimal utilization of CMA testing in the diagnostic workup. In addition, we provide a list of CNAs and CN-LOH regions which have documented clinical significance in diagnosis, prognosis and treatment decisions in AML

Increased AID results in mutations at the CRLF2 locus implicated in Latin American ALL health disparities

Activation-induced cytidine deaminase (AID) is a B cell-specific mutator required for antibody diversification. However, it is also implicated in the etiology of several B cell malignancies. Evaluating the AID-induced mutation load in patients at-risk for certain blood cancers is critical in assessing disease severity and treatment options. We have developed a digital PCR (dPCR) assay that allows us to quantify mutations resulting from AID modification or DNA double-strand break (DSB) formation and repair at sites known to be prone to DSBs. Implementation of this assay shows that increased AID levels in immature B cells increase genome instability at loci linked to chromosomal translocation formation. This includes the CRLF2 locus that is often involved in translocations associated with a subtype of acute lymphoblastic leukemia (ALL) that disproportionately affects Hispanics, particularly those with Latin American ancestry. Using dPCR, we characterize the CRLF2 locus in B cell-derived genomic DNA from both Hispanic ALL patients and healthy Hispanic donors and found increased mutations in both, suggesting that vulnerability to DNA damage at CRLF2 may be driving this health disparity. Our ability to detect and quantify these mutations will potentiate future risk identification, early detection of cancers, and reduction of associated cancer health disparities

NFIA Haploinsufficiency Is Associated with a CNS Malformation Syndrome and Urinary Tract Defects

Complex central nervous system (CNS) malformations frequently coexist with other developmental abnormalities, but whether the associated defects share a common genetic basis is often unclear. We describe five individuals who share phenotypically related CNS malformations and in some cases urinary tract defects, and also haploinsufficiency for the NFIA transcription factor gene due to chromosomal translocation or deletion. Two individuals have balanced translocations that disrupt NFIA. A third individual and two half-siblings in an unrelated family have interstitial microdeletions that include NFIA. All five individuals exhibit similar CNS malformations consisting of a thin, hypoplastic, or absent corpus callosum, and hydrocephalus or ventriculomegaly. The majority of these individuals also exhibit Chiari type I malformation, tethered spinal cord, and urinary tract defects that include vesicoureteral reflux. Other genes are also broken or deleted in all five individuals, and may contribute to the phenotype. However, the only common genetic defect is NFIA haploinsufficiency. In addition, previous analyses of Nfia−/− knockout mice indicate that Nfia deficiency also results in hydrocephalus and agenesis of the corpus callosum. Further investigation of the mouse Nfia+/− and Nfia−/− phenotypes now reveals that, at reduced penetrance, Nfia is also required in a dosage-sensitive manner for ureteral and renal development. Nfia is expressed in the developing ureter and metanephric mesenchyme, and Nfia+/− and Nfia−/− mice exhibit abnormalities of the ureteropelvic and ureterovesical junctions, as well as bifid and megaureter. Collectively, the mouse Nfia mutant phenotype and the common features among these five human cases indicate that NFIA haploinsufficiency contributes to a novel human CNS malformation syndrome that can also include ureteral and renal defects

Compartiendo saberes de educación y humanidades

Los capítulos referentes a este libro tratan diversos temas tales como: 1) la construcción de los estudiantes de la licenciatura en químico farmacéutico biólogo el juicio valorativo y personaI deI significado en su desarroIIo profesionaI desde eI punto de vista axiológico, 2) se realiza un estudio en el Plantel Cuauhtémoc con Ia finaIidad de orientar a Ia comunidad estudiantiI aI tratamiento deI probIema de los residuos sólidos desde su etapa de diagnóstico hasta una propuesta de solución de la problemática, 3) se analiza como a nivel básico se construye el conocimiento y la participación del género en los estudiantes, en donde se observa que el papel del docente es un promotor importante, 4) es un tema que actualmente está causando mucho interés tanto en la educación como el la población en general, las redes sociales que actuaImente ese consideran un medio de comunicación con mucha influencia dentro de la sociedad, 5) se adentra al campo de la psicología y la tanatología ante los recursos resilientes que presentan las familias ante la muerte de un hijo, 6) es una investigación dedicada a identificar Ias diferentes percepciones que tienen las mujeres y los hombres en relación a la felicidad y la desdicha dentro del matrimonio, 7) es un análisis Transgeneracional para aportar las referencias familiares que permiten la permanencia del abuso sexual infantil en tres generaciones, de las cuales en la última generación se rompe ese secreto avallazador al romper el silencio, 8) es un ensayo acerca del juego terapéutico desde el punto de vista psicoanalítico, en el que se advierte ese juego en el que entra el paciente con el psicoanalista, 9) la metodología de la observación para la integración de la pericial en psicología, en donde se denotan desde la parte jurídica como se fundamente esta pericial y fortalece el logro del dictamen para tener un buen dictamen, 10) es una propuesta de construcción y validez del instrumento BP-22 Bienestar Psicológico en el ámbito de la educación superior, 11) se identifica a Ios procesos eIectoraIes como complicados, de tal manera que abre un panorama al marketing de los partidos políticos para conducir la voluntad ciudadana, y además ayuda al posicionamiento de los partidos, 12) aporta una base sobre Ios procesos identificatorios en eI movimiento estudiantiI de Ia UNAM deI año de I999, pIanteándoIo desde dos ejes de análisis: las identidades universitarias y el apartado del texto, que permiten configurar eI movimiento estudiantiI como un acontecimiento capaz de generar articulaciones nuevas de solidaridad. AI finaI deI Iibro se encuentran Ias síntesis curricuIares de cada uno de los autores, que aportaron sus investigaciones para la integración y generación de nuevos aportes científicos.Como su nombre lo indica COMPARTIENDO SABERES DE EDUCACIÓN Y HUMANIDADES, es un Iibro que denota eI deseo de integrar conocimiento para la comunidad estudiantil, llevarlos al interés de la investigación a través de la participación de los investigadores de diferentes áreas como: la educación, las ciencias sociales y las humanidades. Que les permite tener no solo un espacio en la difusión de los avances de sus estudios, sino que además permite el generar el interés de quién lo lee en diferentes formas de investigación, se encuentran estudios tanto cualitativos como cuantitativos, desde descriptivos hasta un nivel de intervención en la práctica de estas áreas.Universidad Autónoma del Estado de méxic

Gestión del conocimiento. Perspectiva multidisciplinaria. Volumen 10

El libro “Gestión del Conocimiento. Perspectiva Multidisciplinaria”, Volumen 10, de la Colección Unión Global, es resultado de investigaciones. Los capítulos del libro, son resultados de investigaciones desarrolladas por sus autores. El libro es una publicación internacional, seriada, continua, arbitrada de acceso abierto a todas las áreas del conocimiento, que cuenta con el esfuerzo de investigadores de varios países del mundo, orientada a contribuir con procesos de gestión del conocimiento científico, tecnológico y humanístico que consoliden la transformación del conocimiento en diferentes escenarios, tanto organizacionales como universitarios, para el desarrollo de habilidades cognitivas del quehacer diario. La gestión del conocimiento es un camino para consolidar una plataforma en las empresas públicas o privadas, entidades educativas, organizaciones no gubernamentales, ya sea generando políticas para todas las jerarquías o un modelo de gestión para la administración, donde es fundamental articular el conocimiento, los trabajadores, directivos, el espacio de trabajo, hacia la creación de ambientes propicios para el desarrollo integral de las instituciones

Gestión del conocimiento: perspectiva multidisciplinaria. Volumen 13

El libro “Gestión del Conocimiento. Perspectiva Multidisciplinaria”, Volumen 13 de la Colección Unión Global, es resultado de investigaciones. Los capítulos del libro, son resultados de investigaciones desarrolladas por sus autores. El libro es una publicación internacional, seriada, continua, arbitrada, de acceso abierto a todas las áreas del conocimiento, orientada a contribuir con procesos de gestión del conocimiento científico, tecnológico y humanístico. Con esta colección, se aspira contribuir con el cultivo, la comprensión, la recopilación y la apropiación social del conocimiento en cuanto a patrimonio intangible de la humanidad, con el propósito de hacer aportes con la transformación de las relaciones socioculturales que sustentan la construcción social de los saberes y su reconocimiento como bien público. El libro “Gestión del Conocimiento. Perspectiva Multidisciplinaria”, Volumen 13, de la Colección Unión Global, es resultado de investigaciones. Los capítulos del libro, son resultados de investigaciones desarrolladas por sus autores. El libro cuenta con el apoyo de los grupos de investigación: Universidad Sur del Lago “Jesús María Semprúm” (UNESUR) - Zulia – Venezuela; Universidad Politécnica Territorial de Falcón Alonso Gamero (UPTFAG) - Falcón – Venezuela; Universidad Politécnica Territorial de Mérida Kléber Ramírez (UPTM) - Mérida - Venezuela; Universidad Guanajuato (UG) - Campus Celaya - Salvatierra - Cuerpo Académico de Biodesarrollo y Bioeconomía en las Organizaciones y Políticas Públicas (CABBOPP) - Guanajuato – México; Centro de Altos Estudios de Venezuela (CEALEVE) - Zulia – Venezuela, Centro Integral de Formación Educativa Especializada del Sur (CIFE - SUR) - Zulia – Venezuela; Centro de Investigaciones Internacionales SAS (CEDINTER) - Antioquia – Colombia y diferentes grupos de investigación del ámbito nacional e internacional que hoy se unen para estrechar vínculos investigativos, para que sus aportes científicos formen parte de los libros que se publiquen en formatos digital e impreso