Estudio de asociación de base familiar entre polimorfismos de MTHFR y mielomeningocele en Chile

Abstract

(Rev Med Chile 2014; 142: 587-592)

Myelomeningocele as newborn complication of lupus patient. A singular case.

“…In this case it was presented in a male patient, it is reported that there is no predominance by sex or race for the appearance of the malformation, although some authors such as González A, et al7 describe a predominance of affectation in the female sex; However, what does exist is a predominance of the area of appearance of the same, being reported that is more frequent in the lumbar area with respect to other regions of the spine, as occurred in this case [7,8].…”

“…Within its clinical manifestations it is to emphasize the presence of dysfunction of different organs such as the bladder and the instetino which causes serious adaptive difficulties. Hydrocephalus and / or Arnold-Chiari malformation may be associated, among other alterations [8][9][10]. This is why, considering that autoimmune diseases and the use of immunosuppressive drugs are reported as risk factors for the onset of MMC, its high incidence and the scarcity of reports that show the occurrence of this congenital malformation in patients with RE, Presents this case of a newborn with MMC, son of a lupic patient of 4 years of evolution.…”

“…Consequently, several genes have been postulated as candidates to be responsible, umsmwork74@gmail.com which are related to metabolic pathways such as the transport and metabolism of vitamin B12, folates and methylation processes [8]. It is characterized by an early malformation in the embryonic development of the spinal cord, spinal cord, roots and meninges [9].…”

Study of C677T methylene tetrahydrofolate reductase gene polymorphism as a risk factor for neural tube defects

“…[ 24 25 26 27 28 ] Similarly, C677T MTHFR polymorphism was not found to be a risk factor in the studies conducted by Erdogan et al ., Barber et al ., Mornet et al ., and Pardo et al . [ 29 30 31 32 ] Nasri et al ., in their study to find a possible association between MTHFR gene polymorphism and NTD in Tunisian parents found that, TT genotype and T allele in MTHFR C677T significantly decreased the incidence of NTDs in the mother group, but significantly increased this incidence in the father group. [ 33 ] A good deal ofinteraction occurs between Folate, Vitamin B12, Homocysteine and MTHFR [ Figure 7 ].…”

Mielomeningocele: actualización para la práctica clínica

“…5,6 En el Instituto nacional de pediatría en México en el 2001, según Medina y colaboradores, se reportó que; 1.2 por cada mil nacidos vivos, presentaron la enfermedad, 10 y en Chile según Pardo y colaboradores en el 2014 se encontró igual dato estadístico de la enfermedad que reporto España. 11 Según datos nacionales, en estudios realizados en el IHSS en Tegucigalpa, en periodos comprendidos desde 1998 al 2015, la incidencia de anomalías congénitas ha sido reportada con variantes significativas. En el estudio de Rodríguez y Alvarenga en 1999 se presentaron malformaciones congénitas externas en 10 por cada mil nacidos vivos, de los cuales el 51.5% fueron defectos de cierre del tubo neural, mientras en el estudio de López y Mayes, en periodo del 2002-2004 realizado en el mismo hospital tan sólo 4 años después, reportaron una incidencia de 21.1 por cada 1000 nacidos vivos donde el 24.7% de los sistemas afectados eran piel y sistema esquelético y otro 24.7% del sistema nervioso central.…”