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Los objetivos fueron analizar la estructura y variabilidad genética del bisonte americano con marcadores genéticos de tipo SNP. Se muestrearon 174 bisontes y se analizaron 42,366 SNP distribuidos en los 29 cromosomas. Se estimó la heterocigosis esperada (He) y observada (Ho), contenido de información polimórfica (CIP), índice de fijación (FIS), índice de Shannon (IS), desequilibrio de ligamiento y relación de parentesco (Rij; %), así como el tamaño efectivo de población (Ne). Se realizó un análisis de estructura genética para inferir cuántas líneas o genomas (k) definen la población. Se identificó y seleccionó un panel con 2,135 SNP polimórficos, con un promedio de 74 SNP por cromosoma. En el proceso de exclusión, 84.5 % fueron monomórficos, 8.5 % con porcentaje de usables menor a 90 %, 6.3 % con frecuencia del alelo menor inferior a 0.01 y 0.70 % por desequilibrio Hardy-Weinberg (P

Educación laica, gratuita, obligatoria, integral, científica, democrática, nacionalista y de calidad, como valores para la educación pública que se han incorporado y evolucionado a través del tiempo, han dado sentido y orientación a la acción gubernamental durante gran parte del siglo que ha cumplido la Constitución mexicana de 1917; sin embargo, parecen aún lejanos e insuficientes para configurar el proyecto educativo del México futuro. Por ello, el debate sobre el derecho a la educación, si bien tiene varias décadas de estar presente entre especialistas y académicos, parece más pertinente hoy, frente a las dificultades y controversias que ha enfrentado la reforma educativa de 2013. El centenario del Artículo Tercero Constitucional es un marco simbólico que brinda la oportunidad de compendiar el estado actual de su debate, mismo que se ha logrado gracias a la colaboración entre la Universidad Pedagógica Nacional, la Facultad Latinoamericana de Ciencias Sociales-México (flacso) y la Comisión de Educación del Senado de la República lxiii Legislatura, que además abre la posibilidad para la reflexión permanente sobre los retos que deberá enfrentar, en los años venideros, este importante derecho humano. Para hacer un justo reflejo del debate nacional, la pluralidad se planteó como uno de los principales objetivos de esta obra. Las contribuciones que se encuentran incluidas fueron desarrolladas por sus autores, en respuesta a una convocatoria de la Universidad Pedagógica Nacional y la Comisión de Educación del Senado de la República lxiii Legislatura, buscando que todo interesado en el tema que tuviera algo que aportar al debate pudiese hacerlo, siempre en un marco de tolerancia al derecho de otros de disentir, condición que los autores participantes mostraron en un elevado ejemplo de capacidad de diálogo y debate entre pares, donde las posturas totalizantes cedieron el paso a la crítica reflexiva.

Introducción: la evidencia en la prevalencia de COVID-19 relacionado con los problemas de salud es una emergencia. Reporte de caso: mujer de 28 años, con TCA (trastorno conductual de la alimentación) desde los 12 años. IMC (índice de masa corporal) 13.6 kg/m2. Hospitalizada por padecimiento respiratorio (broncoespasmo) debido a COVID-19, con oxígeno suplementario dos litros, durante su estancia rechazo a los alimentos, se colocó sonda nasogástrica, iniciando nutrición enteral estándar, presentando síndrome de realimentación (SRL), manejo con electrólitos y se modificó la dieta enteral baja en carbohidratos, alta en proteínas y terapia psicológica por videollamada. Recuperando estado de salud y egreso a domicilio. Discusión: las complicaciones de realimentación aumentan cuando se inicia una tasa calórica alta. La fórmula enteral estándar contiene 54% de carbohidratos, el cual contribuye al riesgo de desarrollar SRL. Se desconocen las consecuencias de TCA y COVID-19 y es probable que se vuelva más evidente con el tiempo.

Desde diciembre de 2019, una nueva enfermedad causada por coronavirus 2019 (COVID19), estalló en Wuhan, China. Causante del síndrome respiratorio agudo severo (SARS-CoV2) Algunos casos asocian COVID-19 y trastornos autoinmunes; el papel de este virus en la autoinmunidad esta poco dilucidada. El lupus eritematoso sistémico (LES) es una enfermedad autoinmune. El Baricitinib es una molécula inhibidora de quinasa de Janus (JAK) aprobada para el tratamiento de trastornos autoinmunitarios e inflamatorios, recientemente utilizado para el manejo de la enfermedad grave por COVID-19. Se trata de 4 casos de LES con COVID 19, dos de las cuales ingresaron a la unidad de cuidados intensivos, fallecieron; con antecedente de nefritis lúpica. Los dos casos siguientes sobrevivieron. Aún se desconocen los factores de riesgo que incrementan la mortalidad en LES, sin embargo, se asoció nefritis lúpica con mortalidad en COVID-19. Se requieren más estudios para comprender el riesgo entre las enfermedades autoinmunes y COVID-19.

Los animales son las principales víctimas de la historia, esto fue mencionado por primera vez en el texto descrito por Peter Singer La liberación animal. Enfocarse en una ética para el bienestar animal implica situar la mirada en la capacidad de sentir qué experimentan los animales. El bienestar animal es la capacidad de los animales de sentir dolor, sufrimiento, es decir, experimentan emociones.La experimentación animal no es un tema reciente, es un problema que ha existido desde hace muchos años. Un pilar fundamental es el comité de ética institucional, su función es evaluar cada paso antes, y durante la experimentación, verificando el programa, procedimiento, justificación, bienestar, ofrecer un digno y adecuado alojamiento que sea confortable. Cualquier experimentación con animales debe tener una justificación científica, evitar el dolor, sufrimiento, así como tener personal capacitado para salvaguardar su bienestar.

Age-related neurodegenerative diseases are of critical concern to the general population and research/medical community due to their health impact and socioeconomic consequences. A feature of most, if not all, neurodegenerative disorders is the presence of proteinopathies, in which misfolded or conformationally altered proteins drive disease progression and are often used as a primary neuropathological marker of disease. In particular, Alzheimer's disease (AD) is characterized by abnormal accumulation of protein aggregates, primarily extracellular plaques composed of the Aβ peptide and intracellular tangles comprised of the tau protein, both of which may indicate a primary defect in protein clearance. Protein degradation is a key cellular mechanism for protein homeostasis and is essential for cell survival but is disrupted in neurodegenerative diseases. Dysregulation in proteolytic pathways - mainly the autophagic-lysosomal system (A-LS) and the ubiquitin-proteasome system (UPS) - has been increasingly associated with proteinopathies in neurodegenerative diseases. Here we review the role of dysfunctional autophagy underlying AD-related proteinopathy and discuss how to model this aspect of disease, as well as summarize recent advances in translational strategies for targeted A-LS dysfunction in AD.

Anterior segment dysgenesis (ASD) and Axenfeld-Rieger spectrum (ARS) are mainly due to PITX2 and FOXC1 defects, but it is difficult in some patients to differentiate among PITX2-, FOXC1-, PAX6- and CYP1B1-related disorders. Here, we set out to characterize the pathogenic variants (PV) in PITX2, FOXC1, CYP1B1 and PAX6 in nine unrelated Mexican ARS/ASD patients and in their available affected/unaffected relatives.Automated Sanger sequencing of PITX2, FOXC1, PAX6 and CYP1B1 was performed; those patients without a PV were subsequently analyzed by Multiplex Ligation-dependent Probe Amplification (MLPA) for PITX2, FOXC1 and PAX6. Missense variants were evaluated with the MutPred, Provean, PMUT, SIFT, PolyPhen-2, CUPSAT and HOPE programs.We identified three novel PV in PITX2 (NM_153427.2:c.217GA, c.233TC and c.279del) and two in FOXC1 [NM_001453.2:c.274CT (novel) and c.454TA] in five ARS patients. The previously reported FOXC1 c.367CT or p.(Gln123*) variant was identified in a patient with ASD. The ocular phenotype related to FOXC1 included aniridia, corneal opacity and early onset glaucoma, while an asymmetric ocular phenotype and aniridia were associated with PITX2. No gene rearrangements were documented by MLPA analysis, nor were any PV identified in PAX6 or CYP1B1.Heterozygous PV in the PITX2 and FOXC1 genes accounted for 66% (6/9) of the ARS/ASD cases. The absence of PAX6 or CYP1B1 abnormalities could reflect our small sample size, although their analysis could be justified in ARS/ASD patients that present with congenital glaucoma or aniridia.

Objective. The aim of this study was to estimate the incidence of delirium and its risk factors among critically ill cancer patients in an intensive care unit (ICU). Materials and Methods. This is a prospective cohort study. The Confusion Assessment Method for the Intensive Care Unit (CAM-ICU) was measured daily at morning to diagnose delirium by a physician. Delirium was diagnosed when the daily was positive during a patient’s ICU stay. All patients were followed until they were discharged from the ICU. Using logistic regression, we estimated potential risk factors for developing delirium. The primary outcome was the development of ICU delirium. Results. There were 109 patients included in the study. Patients had a mean age of 48.6 ± 18.07 years, and the main reason for admission to the ICU was septic shock (40.4%). The incidence of delirium was 22.9%. The mortality among all subjects was 15.6%; the mortality rate in patients who developed delirium was 12%. The only variable that had an association with the development of delirium in the ICU was the days of use of mechanical ventilation (OR: 1.06; CI 95%: 0.99–1.13;p=0.07). Conclusion. Delirium is a frequent condition in critically ill cancer patients admitted to the ICU. The duration in days of mechanical ventilation is potential risk factors for developing delirium during an ICU stay. Delirium was not associated with a higher rate of mortality in this group of patients.

The aim of this study was to improve knowledge of the mutational spectrum causing tuberous sclerosis complex (TSC) in a sample of Mexican patients, given the limited information available regarding this disease in Mexico and Latin America. Four different molecular techniques were implemented to identify from single nucleotide variants to large rearrangements in the TSC1 and TSC2 genes of 66 unrelated Mexican-descent patients that clinically fulfilled the criteria for a definitive TSC diagnosis. The mutation detection rate was 94%, TSC2 pathogenic variants (PV) prevailed over TSC1 PV (77% vs. 23%) and a recurrent mutation site (hotspot) was observed in TSC1 exon 15. Interestingly, 40% of the identified mutations had not been previously reported. The wide range of novels PV made it difficult to establish any genotype-phenotype correlation, but most of the PV conditioned neurological involvement (intellectual disability and epilepsy). Our 3D protein modeling of two variants classified as likely pathogenic demonstrated that they could alter the structure and function of the hamartin (TSC1) or tuberin (TSC2) proteins. Molecular analyses of parents and first-degree affected family members of the index cases enabled us to distinguish familial (18%) from sporadic (82%) cases and to identify one case of apparent gonadal mosaicism.

About 80% of patients with tuberous sclerosis complex (TSC) present renal involvement, usually as angiomyolipomas followed by cystic disease. An early diagnosis of polycystic kidney disease (PKD) in such patients is frequently related to the TSC2/PKD1 contiguous gene syndrome (PKDTS). Molecular confirmation of PKDTS is important for a prompt diagnosis, which can be complicated by the phenotypic heterogeneity of PKD and the absence of a clear phenotype–genotype correlation. Herein, we report three PKDTS pediatric patients. The case 3 did not present a classic PKDTS phenotype, having only one observable cyst on renal ultrasound at age 4 and multiple small cysts on magnetic resonance imaging at age 15. In this patient, chromosomal microarray analysis showed a gross deletion of 230.8 kb that involved TSC2, PKD1 and 13 other protein-coding genes, plus a heterozygous duplication of a previously undescribed copy number variant of 242.9 kb that involved six protein-coding genes, including SSTR5, in the 16p13.3 region. Given the observations that the case 3 presented the mildest renal phenotype, harbored three copies of SSTR5, and the reported inhibition of cystogenesis (specially in liver) observed with somatostatin analogs in some patients with autosomal dominant PKD, it can be hypothesized that other genetic factors as the gene dosage of SSTR5 may influence the PKD phenotype and the progression of the disease; however, future work is needed to examine this possibility. Resumen: Un 80% de los pacientes con complejo de esclerosis tuberosa (CET) presentan afectación renal, generalmente angiomiolipomas, seguidos de enfermedad quística. Un diagnóstico temprano de la enfermedad renal poliquística (ERP) en estos pacientes se relaciona con frecuencia con el síndrome de genes contiguos TSC2/PKD1 (PKDTS). La confirmación molecular de PKDTS es importante para establecer un diagnóstico oportuno, que puede complicarse por la heterogeneidad fenotípica de PKD y la ausencia de una clara correlación entre fenotipo y genotipo. En este artículo presentamos los casos de 3 pacientes pediátricos con PKDTS. El caso 3 no presentó un fenotipo PKDTS clásico, con solo un quiste observable en la ecografía renal a los 4 años y numerosos quistes pequeños en la resonancia magnética a los 15 años. En este paciente, el análisis de microarreglos para análisis cromosómico global mostró una eliminación total de 230,8 kb que involucró a TSC2, PKD1 y otros 13 genes codificantes de proteínas, más una duplicación heterocigota para una variante de número de copias no descrita previamente de 242,9 kb que involucró a 6 genes codificantes de proteínas, entre ellos SSTR5, en la región 16p13.3. Dado que el caso 3 mostraba el fenotipo renal menos severo, contaba con tres copias del gen SSTR5 y a que se ha observado una inhibición en la cistogénesis (especialmente en el hígado) con los análogos de somatostatina en algunos pacientes con ERP autosómica dominante, podemos hipotetizar que existen otros factores genéticos como la dosis génica de SSTR5 que pudieran influir en el fenotipo y la progresión de la ERP; sin embargo, se necesitan estudios adicionales para investigar esta posibilidad. Keywords: Tuberous sclerosis complex, Polycystic kidney disease, Copy number variant, TSC2/PKD1 contiguous gene syndrome, SSTR5 gene, Palabras clave: Complejo de esclerosis tuberosa, Enfermedad del riñón poliquístico, Variante del número de copias, Síndrome de genes contiguos TSC2/PKD1, Gen SSTR5

Gastrointestinal tissues are directly exposed to dietary xenobiotics. In spite of this, modulation of cytochrome P450 (CYP) enzymes in the gastrointestinal tract is not well established. CYP induction could facilitate transformation of chemical agents to potentially toxic or carcinogenic metabolites. This might also determine drug efficacy, burden of foreign chemicals on tissues or bioavailability of certain therapeutic agents. In order to assess the induction of the CYP subfamilies 1A1/2, 2B1/2, 2E1 and 3A2 in the gastrointestinal tract, male Wistar rats were treated with phenobarbital/β-naphthoflavone (PB/NF), cyclohexanol/albendazole (CH/ABZ) or toluene (TL). Microsomal fractions were prepared from tissue samples of the esophagus, the stomach, the duodenum, the colon and the liver. Western blot and enzymatic activity analyses revealed an increase in the expression and activity of CYP1A1/2 and CYP3A2 isoenzymes in the esophageal, duodenal and colonic microsomes from animals treated with PB/NF. CYP1A1/2 and CYP3A2 were induced in hepatic and duodenum microsomes by treatment with CH/ABZ. Our results demonstrate differential induction of CYP along the gastrointestinal tract by known CYP hepatic inducers, being the treatment with PB/NF the best induction system of the CYPs.

Electrodeposition of silver on a poly( o -aminophenol) (POAP) modified platinum electrode was studied by using cyclic voltammetry and chronoamperometry techniques. Results suggest that this process occurs at the polymer ∣ electrode interface. The polymer film is rather indifferent to the electrodeposition of silver because of the low conductivity of the film at potentials where crystallization occurs. Experimental transients indicated that at very short times the process follows a three-dimensional and progressive nucleation pattern with diffusion controlled growth. At pH 5, the formation of silver-polymer amino-complexes may take place.

The aim of the present work was to determine if the use of pesticide mixtures produced alterations in immunotoxicity biomarkers. The study was undertaken in three groups: the first group consisted of 38 floriculturists, the second comprised 38 vendors of the local market, and the last comprised 33 non-exposed persons from another locality. The determinations included haematocrit, mean cellular volume, hemoglobin, number of erythrocytes and leukocytes, immunoglobulins (IgA, IgG, IgM, and IgE), percentage of T-lymphocytes, and mitotic index from lymphocyte cultures with and without phytohaemagglutinin (PHA). The obtained results indicated the following: (i) in the level of the studied immunoglobulins, the results were within the reference values; (ii) there was a reduction in the amount of T-lymphocytes in the floriculturists in comparison with the determined in the other two groups; (iii) there was a decrease in the mitotic index of PHA-stimulated lymphocyte cultures of floriculturists and vendors in relation to the value of the control group; (iv) there was an increase in the mitotic index of unstimulated lymphocytes of floriculturists compared with the lymphocytes of the other two groups; and (v) there was no correlation between the results and the personal characteristics of the studied individuals. Our results established an immunotoxic effect in the floriculturists exposed to pesticides.

Classical galactosemia is an autosomal recessive inborn error of metabolism caused by a deficiency of the galactose-1-phosphate uridyltransferase (GALT). More than 200 mutations have been described in the GALT gene. A 5.5-kb GALT deletion, first described in patients of Ashkenazi Jewish ancestry, may lead either to an erroneous genotype assignment of classical galactosemia or to discrepancies with parental genotypes and the expected biochemical phenotype. The presence of the 5.5-kb deletion was examined in 27 Mexican nonrelated families with at least one child with reduced GALT activity in erythrocytes and it was detected in the 5.5% (n=3) of the 54 alleles tested. The first molecular studies in three of our families showed that the genotypes of the parents were inconsistent with those of their children, which were considered initially as homozygous p.N314D-Duarte 2, but after analyzing for the presence of the 5.5-kb deletion, were reassigned as compound heterozygotes [5.5-kb deletion]+[p.N314D-Duarte 2]. Identification of the 5.5-kb deletion in Mexican patients suggests that this mutation might not be exclusive to a given ethnic group and should be tested in other populations, especially when there is a discrepancy between the genotypes of patients and parents or by incongruence between biochemical phenotype and GALT genotype. Establishing a genotype–phenotype correlation for the 5.5-kb GALT deletion and determining the appropriate management will require additional studies in patients with a G/G genotype bearing the 5.5-kb GALT deletion.

Esta investigación descriptiva tiene el propósito de mostrar el análisis de diversas técnicas, métodos y metodologías utilizadas en el diseño de nuevos productos con el objeto de plantear los argumentos que debe contener un modelo de planeación para la innovación de productos. Se realizó la localización de documentos clave, fijación de datos, análisis de contenido, clasificación y síntesis de la información, obteniendo como resultado una clasificación de las técnicas, métodos o metodologías de acuerdo a diversas áreas de análisis. Esta clasificación también indica el propósito que tienen al aplicarlas. El resultado del estudio es la discusión e implicaciones de las técnicas, métodos y metodologías identificadas en la literatura, enfatizado que en la construcción de un modelo de planeación de la innovación del diseño de productos debe hacerse explicita la relación de los diferentes planos de la planeación, como son: el normativo, estratégico, táctico, operacional y la planeación de recursos.