[Identificación de fármacos reguladores de la actividad del promotor Egr-1 en fibroblastos humanos transducidos con AdΔegr-1-Luc7].

IntroducciÓn: La proteína de respuesta temprana a crecimiento 1 (EGR-1) es un factor de transcripción involucrado en la diferenciación y la proliferación celulares, cuya expresión es regulada por su promotor en respuesta a diversos factores físicos y químicos, y a fármacos. Aquí se describen algunos de los principales efectos de los fármacos esteroides y del factor de crecimiento epitelial 1 (EGF-1) sobre la actividad del promotor, mediante un sistema reportero transducido por el adenovirus AdΔegr-1-Luc7 en fibroblastos primarios humanos.

MÉtodo: Los fibroblastos primarios humanos fueron cultivados en pase 5, transducidos con AdΔegr-1-Luc7 y expuestos a betametasona, hidrocortisona, dexametasona, testosterona, beta-estradiol y EGF-1 durante 1, 3 y 6 horas.

[Skin and tissue bank: Operational model for the recovery and preservation of tissues and skin allografts].

Tissue storage is a medical process that is in the regulation and homogenisation phase in the scientific world. The international standards require the need to ensure safety and efficacy of human allografts such as skin and other tissues. The activities of skin and tissues banks currently involve their recovery, processing, storage and distribution, which are positively correlated with technological and scientific advances present in current biomedical sciences.

Prenatal diagnosis in a cystic fibrosis family: a combined molecular strategy for a precise diagnosis.

Introduction: The high genetic heterogeneity in populations with a wide spectrum of mutations in the CF transmembrane conductance regulator gene (CFTR), makes the detection of mutations a very hard and difficult task, thereby limiting the accurate diagnosis of the disease, mainly in patients with uncharacterized mutations.

Material And Methods: Molecular strategies, like targeted identification of the most frequent CFTR mutations in Mexican population combined with linkage analysis using markers, is very useful for carrier detection and for prenatal diagnosis in affected families with CF. In this paper we show that the combination of methodologies was a crucial alternative to reach a precise prenatal CF diagnosis.

Effect on risk of anencephaly of gene-nutrient interactions between methylenetetrahydrofolate reductase C677T polymorphism and maternal folate, vitamin B12 and homocysteine profile.

Objective: To evaluate the effects on anencephaly risk of the interaction between the maternal profile of folate, vitamin B12 and homocysteine and the 677C→T polymorphism in the gene encoding methylenetetrahydrofolate reductase (MTHFR).

Design: Case-control study paired (1:1) on maternity clinic, date of birth and state of residence. Cases of anencephaly were identified using the Registry of the Mexican Neural Tube Defect Epidemiological Surveillance System.

Methylenetetrahydrofolate reductase gene 677CT polymorphism and isolated congenital heart disease in a Mexican population.

Introduction And Objectives: The frequency of the 677C>T mutation in the methylenetetrahydrofolate reductase gene in Mexico is one of the highest worldwide. Some studies have shown that both the homozygous state of this mutation and a high homocysteine concentration are associated with congenital heart disease. The aim of this study was to determine whether this association exists in the Mexican population.

Molecular screening of the CFTR gene in Mexican patients with congenital absence of the vas deferens.

Background: In several populations CFTR mutations, as well as IVS8-Tn CFTR polymorphism, have been associated with congenital bilateral absence of the vas deferens (CBAVD) and idiopathic obstructive azoospermia diseases. However, the involvement of these mutations in infertility of Mexican males has not been elucidated.

Aims: We investigated whether CFTR mutations and IVS8-Tn(TG)m polymorphisms are associated with infertility in azoospermic Mexican patients.

Inside the outbreak of the 2009 influenza A (H1N1)v virus in Mexico.

Background: Influenza viruses pose a threat to human health because of their potential to cause global disease. Between mid March and mid April a pandemic influenza A virus emerged in Mexico. This report details 202 cases of infection of humans with the 2009 influenza A virus (H1N1)v which occurred in Mexico City as well as the spread of the virus throughout the entire country.

[Alpha-fetoprotein as an early predictor of adverse perinatal outcome].

Background: The alpha-fetoprotein (AFP) is a glycoprotein, which is produced by the human fetus. Previous studies have shown associations between elevated AFP levels and an increased risk of adverse perinatal outcomes.

Objective: To determine if abnormal AFP levels are associated with adverse perinatal outcomes.

Identification of influenza A pandemic (H1N1) 2009 variants during the first 2009 influenza outbreak in Mexico City.

Background: In March 2009, public health surveillance detected increased numbers of influenza-like illness presenting to hospitals in Mexico City. The aetiological agent was subsequently determined to be a novel influenza A (H1N1) triple reassortant, which has spread worldwide. As a consequence the World Health Organisation has declared the first Influenza pandemic of the 21st century.

[Pallister-Killian syndrome. Case report].

Background: Pallister-Killian syndrome is a rare sporadic genetic disorder with a tissue-specific mosaic distribution of an additional isochromosome 12p [i(12p)]. Due to the low risk of recurrence, prenatal diagnosis of this syndrome is important for the genetic counseling.

Objective: To report the first prenatal diagnosis case of Pallister-Killian syndrome in Mexico (lethal neonatal presentation associated with hypoplastic left heart).

Methylenetetrahydrofolate reductase gene polymorphisms and the risk of anencephaly in Mexico.

The precise etiology of neural tube defects (NTDs) is not known. There is some evidence that mutations in MTHFR gene provide susceptibility to NTDs in some populations; however, other studies have not found this association. One of the problems with previous studies is that they treat NTDs as a homogeneous group, when specific defects could have different etiologies.

45,X/47,XXX/47,XX, del(Y)(p?)/46,XX mosaicism causing true hermaphroditism.

Sex differentiation in humans depends on the presence of the Y-linked gene SRY, which is activated in the pre-Sertoli cells of the developing gonadal primordium to trigger testicular differentiation. Occasionally testicular formation can take place in subjects lacking a Y chromosome resulting in a 46,XX sex reversal condition. True hermaphroditism (TH) is a rare form of intersexuality characterized by the presence of testicular and ovarian tissue in the same individual.

[Prenatal diagnosis in the first trimester, whom and how?].

Since the last decade more screening tests for chromosomal abnormalities are available to all pregnant women in the first trimester. In the same way, more women above 35 years of age are now pregnant. Offering direct invasive procedures to this "high-risk" group should increase the number of fetal losses associated with amniocentesis or chorionic villus sampling (CVS).