Programación fetal de enfermedades expresadas en la etapa adulta

Este estudio revisa algunos factores intrauterinos implicados en el desarrollo del individuo durante la vida fetal y neonatal dando lugar al concepto de “programación fetal” y expresión de enfermedades en la etapa adulta. Se analiza la función de la nutrición materna, la restricción del crecimiento intrauterino (factores de riesgo para padecer diabetes mellitus tipo 2, obesidad, cardiopatía coronaria, hipertensión) y los mecanismos epigenéticos que interactúan con la expresión de genes durante el desarrollo, para establecer los puntos de referencia de los procesos fisiológicos que regularán las funciones en el adulto. Abstract: The purpose of the present review is to summarize some of the intrauterine factors implicated on the person’s development during neonatal and fetal life producing the concept of “fetal programming of adult diseases”. This is an analysis of the role of maternal nutrition and intrauterine growth restriction as risk factors for type 2 diabetes mellitus, obesity, coronary heart disease, hypertension and the epigenetic mechanisms that interact with gene expression during development, establishing the set points of physiological processes that will regulate adult function

Clinical and genetic aspects of Turner’s syndrome

Turner’s syndrome, or monosomy X, is defined as the total or partial loss of the second sex chromosome. The clinical phenotype is highly variable and includes short stature, gonadal dysgenesis, pterygium colli, cubitus valgus and low hairline. The variable expressivity of height and other physical features may be only partially related to the chromosomal formula. Currently, the delay in the diagnosis of Turner’s syndrome remains a problem, as only 15---30% of patients are diagnosed during their first year of life. Understanding its complex etiology and learning more about its clinical variability and complications will allow us to advance the therapeutic and management approach of such patients. This review summarizes the clinical characteristics of, and diagnostic tests for, Turner’s syndrome and the advances in the study of its underlying genetic factor

Aumento de la incidencia de gastrosquisis en un hospital de alta especialidad al norte de México.

Objetivo: Revisar la incidencia de casos de gastrosquisis en el Hospital Universitario Dr. José E. González (HU) y analizar las posibles determinantes genéticas o ambientales. Métodos: Se revisó el archivo hospitalario de 1998 a 2008. La edad materna y paterna, evolución postnatal, asociación con otras malformaciones, exposición a teratógenos y otros parámetros fueron registrados de los expedientes localizados. Resultados: De enero de 1998 a diciembre del 2008 el promedio de nacimientos en el HU fue de 4500 por año, con un incremento significativo de madres adolescentes en los últimos cinco años. Durante este período se presentaron 46 casos de gastrosquisis. La tasa de incidencia fue de 11.1/10,000 RNV en el 2004 y 23/10,000 RNV en el 2008. La mortalidad fue del 35%. Solo se obtuvo acceso a 26 expedientes. La edad paterna promedio fue 27.65 (17-49) y la materna de 21.2 años (15 a 40), 61.5% eran adolescentes. Fueron primigestas 65%; cinco refirieron consumo de alcohol y cuatro además tabaco. El 77% tomó ácido fólico preconcepcional. La edad gestacional promedio fue de 37 semanas (32 a 40) y 19% de los neonatos fueron prematuros. Se presentaron malformaciones mayores y menores en el 30% de los casos. El cariotipo en dos casos fue anormal: 46, XY, ins (10) (q11.2) y 46, XX, dup(X) (p22.1) este último presentaba además comunicación interauricular. Conclusiones: La frecuencia de gastrosquisis se ha venido incrementando en el HU (Monterrey, México), lo cual pudiera ser explicado por el aumento de nacimientos de madres adolescentes. Las aberraciones cromosómicas encontradas no habían sido informadas

3-Methylcrotonyl-CoA carboxylase deficiency detected by tandem mass spectrometry in mexican population.

Tandem mass spectrometry (MS/MS) was introduced to expand newborn screening in Nuevo Leon, Mexico. This has permitted an increase in the diagnosis of many metabolic disorders including isolated 3 methylcrotonyl CoA carboxylase deficiency (3 MCC). Detection of an elevation of C5OH by MS/MS is associated with leucine catabolism disorders; false positive results are related with maternal transfer or immaturity of the enzymatic systems. The confirmatory diagnosis is based on organic acids test in urine and decreased enzyme activity in fibroblasts. We report three cases of abnormal C5OH in among 42 264 newborns (1:14000).1 The diagnosis was confirmed in only one child (~1:40 000). The incidence of 3 MCC deficiency in our state is similar to that of other populations. This is the first report about the incidence of this disorder in newborns in a Mexican population

Síndrome de Aicardi en un neonato: reporte de un caso

Se informa el caso de un recién nacido de sexo femenino que padecía microftalmia derecha, microcórnea, coloboma del iris, crisis convulsivas, agenesia de cuerpo calloso, hidrocefalia no activa y quiste interhemisférico supratentorial. Su electroencefalograma mostró anormalidades y pobre organización de la actividad de base

Expression profile of microRNAs in the testes of patients with Klinefelter syndrome

Klinefelter syndrome (KS) is the most common sex chromosome aneuploidy. A distinctive characteristic of KS is oligozoospermia. Despite multiple studies that have described the natural history of the degenerative process of germ cells in patients with KS, the molecular mechanisms that initiate this process are not well characterized. MicroRNA (miRNA)-mediated post-transcriptional control mechanisms have been increasingly recognized as important regulators of spermatogenesis; however, only a few studies have evaluated the role of miRNAs in the gonadal failure of these patients. Here, we describe a differential expression profile for the miRNAs in testicular tissue samples taken from KS patients. We analysed testicular tissue samples from 4 KS patients and 5 control patients (obstructive azoospermia) through next-generation sequencing, which can provide information about the mechanisms involved in the degeneration of germ cells. A distinctive differential expression profile was identified for 166 miRNAs in the KS patients: 66 were upregulated, and 100 were downregulated. An interactome analysis was performed for 7 of the upregulated and the 20 downregulated miRNAs. The results showed that the target genes are involved in the development, proliferation, and differentiation processes of spermatogenesis, which may explain their role in the development of infertility. This is the first report of a miRNA expression profile generated from testicular tissue samples of KS patients

Spondylothoracic dysostosis, Jarcho Levin syndrome: case report

Dysostosis spondylothoracic, or Jarcho Levin syndrome, is characterized by a short neck and thorax, a protruding abdomen, abnormal vertebral segmentation and fusion posterior costal resulting in thoracic restriction or respiratory failure and scoliosis. The prevalence is estimated at 1 in 12,000 live births for the people of Puerto Rico and 1 per 200,000 for the rest of the world. It is inherited in an autosomal recessive manner and the only related gene is MESP2. Clinical case: Newborn male, who during the first hour of life develops perioral cyanosis, thoracoabdominal dissociation and polipnea, requiring endotracheal intubation and mechanical ventilation for respiratory impairment, finding thoracoabdominal costovertebral abnormalities with an x-ray, and a conditioning restrictive pattern like a crab. During the physical examination, we found horizontal eyelid openings, right atrial appendage, straight nasal bridge, short thorax and asymmetry and hypertrichosis, predominantly in the back. A diagnosis of dysostosis spondylothoracic is confirmed, and the patient was discharged at 7 days of age, with follow up neonatal consultation at high risk

Consulta génetica y asesoramiento

El asesoramiento genético consiste en brindar información verdadera, íntegra y objetiva en una relación de atención profesional que proporciona orientación que permite a los pacientes y sus familias tomar decisiones informadas, con respeto a su autonomía. El asesoramiento genético es fundamental no solamente para el diagnóstico sino también previo a efectuar cualquier prueba genética y debe proseguir después si los resultados comprenden alternativas para el individuo y la familia. El asesoramiento debe estar al alcance de todos y no debe confundirse con aconsejar

The phenotype, psychotype and genotype of bruxism

Abstract. Bruxism is a jaw muscle activity that involves physio-pathological, psycho-social, hereditary and genetic factors. The purpose of this study was to determine the associations between self-reported bruxism, anxiety, and neuroticism personality trait with the rs6313 polymorphism in the gene HTR2A. A sample of 171 subjects of both sexes (14-53 years of age) was included. The control group (group 1, n=60) exhibited no signs or symptoms of bruxism. The case group had signs and symptoms of bruxism (n=112) and was subdivided into group 2, bruxism during sleep (n=22); group 3, awake bruxism (n=44); and group 4 combined bruxism (n=46). As diagnostic tools, the Self-Reported Bruxism Questionnaire (SBQ), the Beck Anxiety Inventory (BAI) and the Eysenck Personality Questionnaire Revised-Abbreviated (EPQR-A) were used. HTR2A (rs6313) SNPs were determined by qPCR for all the participants. The packages SPSS, maxLik and EPI-INFO were used for data analysis. The combined bruxism group reported higher scores in bruxism symptoms, mean = 32.21; anxiety symptoms, mean = 14.80; and neuroticism, mean = 3.26. Combined bruxism was associated with a higher degree of neuroticism (OR=15.0; CI 1.52-148.32) and anxiety in grade 3-moderate (OR=3.56; CI 1.27-10.03), and grade 4-severe (OR=8.40; CI 1.45-48.61), as determined using EPISODE computer software. Genotypic homogeneity analysis revealed no significant differences in allele frequency (P=0.612) among the four groups. The population was in Hardy-Weinberg equilibrium (maxLik package). In conclusion, the three instruments confirm traits of bruxism, anxiety and neuroticism in individuals with bruxism. These data were ratified when the sample was divided by genotypic homogeneity. On the other hand, there was no significant difference between the groups in the SNPs rs6313 from the HTR2A gene

Detection of Turner Syndrome by Quantitative PCR of SHOX and VAMP7 Genes

Turner Syndrome (TS) is an unfavorable genetic condition with a prevalence of 1:2500 in newborn girls. Prompt and effective diagnosis is very important to appropriately monitor the comorbidities. The aim of the present study was to propose a feasible and practical molecular diagnostic tool for newborn screening by quantifying the gene dosage of the SHOX, VAMP7, XIST, UBA1, and SRY genes by quantitative polymerase chain reaction (qPCR) in individuals with a diagnosis of complete X monosomy, as well as those with TS variants, and then compare the results to controls without chromosomal abnormalities. According to our results, the most useful markers for these chromosomal variants were the genes found in the pseudoautosomic regions 1 and 2 (PAR1 and PAR2), because differences in gene dosage (relative quantification) between groups were more evident in SHOX and VAMP7 gene expression. Therefore, we conclude that these markers are useful for early detection in aneuploidies involving sex chromosomes