A tribute to José María ("Chema") Cantú

José María ("Chema") Cantú (1938-2007), nacido en México, fue un líder pionero, amado y respetado en genética médica y humana y bioética en América Latina. Se graduó como médico en México y luego se formó en genética médica y humana en Francia y los Estados Unidos. Fue instrumental en el desarrollo de un programa de investigación, capacitación y genética de primera categoría en genética médica y humana en Guadalajara, en el noroeste de México. Actuó enérgicamente a nivel nacional, regional e internacional para promover el desarrollo científico a través de la colaboración y la educación en ciencias y humanidades, al mismo tiempo que se esforzaba por la justicia, la paz, el amor y los derechos humanos. Él alcanzó algunos de los honores más altos que un científico y un humanista podían aspirar así como el reconocimiento de las comunidades que él sirvió. Cientos de discípulos de América Latina y del mundo se han inspirado en su visión de un mundo mejor a través de la conjunción de la ciencia, el respeto a la humanidad, la ética y el amor.José María (“Chema”) Cantú (1938-2007), born in Mexico, was a pioneering, loved and respected leader in medical and human genetics and bioethics in Latin America. He graduated as a physician in Mexico and then trained in medical and human genetics in France and the United States. He was instrumental in developing a first-rate research, training and genetic services program in medical and human genetics in Guadalajara, in northwestern Mexico. He acted forcefully at national, regional and international levels to promote scientific development through collaboration and education in science and humanities, while he simultaneously strived for justice, peace, love and human rights. He attained some of the highest honors a scientist and humanist could aspire to as well as the recognition of the communities he served. Hundreds of disciples throughout Latin America and the world have been inspired by his vision of a better world through the conjunction of science, respect for humankind, ethics and love

Mexicali una ciudad sin valoración histórica de su patrimonio cultural

Peer Reviewe

Lectina fijadora de manosa en la respuesta inmunitaria innata

La lectina fijadora de manosa (MBL) es una proteína cuyo gen (MBL2) se encuentra en el brazo largo del cromosoma 10. Sus concentraciones en suero pueden ser afectadas por tres variaciones genéticas (B, C y D) en la porción estructural del gen MBL2 y a dos variaciones adicionales en la región promotora del mismo, que generan dos sitios polimórficos (H/L y X/Y). Estos polimorfismos generan diversos haplotipos en algunas comunidades humanas y algunos de estos haplotipos podrían incrementar la susceptibilidad a infecciones, lupus eritematoso generalizado y artritis reumatoide. Este estudio revisa los polimorfismos del gen MBL2 y su relación con la salud en poblaciones humanas afectadas

History and progress of antiviral drugs: from acyclovir to direct-acting antiviral agents (DAAs) for Hepatitis C

The development of antiviral drugs is a very complex process. Currently, around 50 drugs have been approved for human use against viruses such as HSV, HIV-1, the cytomegalo virus, the influenza virus, HBV and HCV. Advancements in this area have been achieved through efforts and technical breakthroughs in different scientific fields. The improvement in the treatment of HCV infection is a good example of what is needed for efficient antiviral therapy. A thorough description of the events that lead to the development of specifically targeted antiviral therapy or HCV (STAT-C) could be useful to further improve research for treating many other viral diseases in the future. Similar to HIV-1 and HBV treatment, combination therapy along with personalized medicine approaches have been necessary to successfully treat HCV patients. This review is focused on what has been done to develop a successful HCV therapy and the drawbacks along the wa

EVALUACIÓN CLÍNICA, BIOQUÍMICA Y MOLECULAR DE UNA FAMILIA CON RECURRENCIA DE DEFECTOS DEL TUBO NEURAL.

Se presenta una familia originaria del sur de Nuevo León con recurrencia de defectos del tuboneural (DTN) cuyos productos sobrevivientes se han logrado después del tratamiento preconcepcionalcon folato. Después de las evaluaciones clínicas, bioquímicas y moleculares, seencuentra que los miembros presentan heterocigocidad para la mutación MTHFR 677T y que lamadre y la hija son heterocigotas compuestas 677C/677T – 1298A/1298C. Los niveles de folatosintraeritrocitarios y plasmáticos son normales y sólo el padre presenta niveles levementeincrementados de homocisteinemia. Estos resultados sugieren una interacción entre factoresgenéticos y nutricionales previamente implicados en la patogénesis de los DTN que podrían estarasociados adicionalmente a la recurrencia de este cuadro malformativo.AbstractA family is presented it would originate of the south of Nuevo León with recurrence of neural tubedefects (NTD) whose products survivors have been achieved after the treatment preconceptionalwith folate. After the clinical, biochemical and molecular evaluations, it is found thatthe members present heterocigocity for the mutation MTHFR 677T and that the mother and thedaughter are compound heterozygotes 677C/677T - 1298A/1298C. The levels of red cellsfolates and plasmatic they are normal and the father only presents slightly increased levels ofhomocystenaemia. These results suggest an interaction among genetic and nutritional factorspreviously implied additionally in the pathogenesis of the NTD that could be associate to therecurrrrence of this defect.Palabras clave: anancefalia, defectos, tubo, neural, Nuevo León, México, anencephaly, defects, neural, tub

Diagnóstico operativo empresarial de la empresa Unión Andina de Cementos S.A.A. – UNACEM

El presente diagnóstico operativo empresarial tiene por finalidad hacer una síntesis de los principales aspectos operativos de la Planta Atocongo de Unión Andina de Cementos S.A.A. – UNACEM, la principal fábrica de cemento del país. Con una producción anual de más de 5 millones de toneladas de cemento y una participación del mercado de más del 45% se constituye como uno de los principales motores para el desarrollo nacional a través de los principales proyectos de infraestructura a través del tiempo. Así, se busca exponer los aspectos clave de su operación desde aquellos a nivel macro como el diseño del proceso productivo y la planta hasta aquellos de mediano plazo como las decisiones de planeamiento agregado, estrategia de mantenimiento, costos y cadena de suministro para continuar detallando las decisiones operativas o del día a día como la programación de las operaciones y la función de compras y almacenes. A lo largo del trabajo de investigación se plantean oportunidades de mejora y conclusiones, las mismas que buscan sugerir una solución operativa, concisa y factible fruto de la experiencia de los autores del presente trabajo dentro de empresas de diferentes rubros. Se ha buscado tener un enfoque marcado en la rentabilidad, consiguiéndose un ahorro anual estimado de S/ 6’085,434 con una inversión estimada de S/ 2’904,926 para de esta manera obtener un beneficio para la empresa de S/ 3’180,508. Sin embargo no hemos dejado de lado el impacto en la seguridad industrial, la calidad y la mejora de procesos, pilares básicos para la sostenibilidad de cualquier empresa en nuestros días.The purpose of this business operational diagnosis is to summarize the main operational aspects of the operation of Unión Andina de Cementos S.A.A. – UNACEM Atocongo Plant, the main cement factory in the country. With an annual production of more than 5 million tons of cement and a market share of more than 45%, it is one of the main engines for national development through the main infrastructure projects over time. Thus, it seeks to expose the key aspects of its operation from those at the macro level such as the design of the production process and the plant to those of the medium term such as aggregate planning decisions, maintenance strategy, costs and supply chain to continue detailing the operational or day-to-day decisions such as the programming of operations and the function of purchases and warehouses. Throughout the research report, opportunities for improvement and conclusions are raised that seek to suggest an operative, concise and feasible solution resulting from the experience in other organizations of the authors of this work. It has sought to have a marked focus on profitability, achieving an estimated annual savings of S/ 6’085,434 with an estimated investment of S/ 2’904,926 in order to obtain a profit for the company of S/ 3’180,508. However, we have not neglected the impact on industrial safety, quality and process improvement, basic pillars for the sustainability of any company today.Tesi

Thymidylate synthase gene variants as predictors of clinical response and toxicity to fluoropyrimidine-based chemotherapy for colorectal cancer

Abstract Background: Fluoropyrimidines form the chemotherapy backbone of advanced and metastatic colorectal cancer (CRC). These drugs are frequently associated with toxicity events that result in dose adjustments and even suspension of the treatment. The thymidylate synthase (TYMS) gene is a potential marker of response and toxicity to fluoropyirimidines as this enzyme is the molecular target of these drugs. Our aim was to assess the association between variants of TYMS with response and toxicity to fluoropyrimidines in patients with CRC in independent retrospective and prospective studies. Methods: Variants namely rs45445694, rs183205964, rs2853542 and rs151264360 of TYMS were genotyped in 105 CRC patients and were evaluated to define their association with clinical response and toxicity to fluoropyrimidines. Additionally, the relationship between genotypes and tumor gene expression was analyzed by quantitative polymerase chain reaction. Results: The 2R/2R (rs45445694) was associated with clinical response (p = 0.05, odds ratio (OR) = 3.45) and severe toxicity (p = 0.0014, OR = 5.21, from pooled data). Expression analysis in tumor tissues suggested a correlation between the 2R/2R genotype and low TYMS expression. Conclusions: The allele 2R (rs45445694) predicts severe toxicity and objective response in advanced CRC patients. In addition, the alleles G(rs2853542) and 6bp-(rs151264360) are independent predictors of response failure to chemotherapy. This is the first study made on a Latin American population that points out TYMS gene variants have predictive values for response and toxicity in patients with CRC treated with fluoropyrimidine-based chemotherapy

Circulating microRNA expression profile in B-cell acute lymphoblastic leukemia

BACKGROUND: Acute lymphoblastic leukemia (ALL) is a highly diverse disease characterized by cytogenetic and molecularabnormalities, including altered microRNA (miRNA) expression signatures. AIM: We perform and validate a plasma miRNA expression profiling to identify potential miRNA involved in leukemogenesis METHODS: MiRNA expression profiling assay was realized in 39 B-ALL and 7 normal control plasma samples using TaqMan Low Density Array (TLDA) plates on Applied Biosystems 7900 HT Fast Real-Time PCR System. MiRNA validation was done for six miRNA differentially expressed by quantitative real-time PCR. RESULTS: Seventy-seven circulating miRNA differentially expressed: hsa-miR-511, -222, and -34a were overexpressed, whereas hsa-miR-199a-3p, -223, -221, and -26a were underexpressed (p values < 0.005 for both sets). According to operating characteristic curve analysis, hsa-miR-511 was the most valuable biomarker for distinguishing B-ALL from normal controls,with an area under curve value of 1 and 100% for sensitivity, and specificity respectively. CONCLUSIONS: Measuring circulating levels of specific miRNA implicated in regulation of cell differentiation and/or cell proliferation such as hsa-miRNA-511, offers high sensitivity and specificity in B-ALL detection and may be potentially useful for detection of disease progression, as indicator of therapeutic response, and in the assessment of biological and/or therapeutic targets for patients with B-ALL