Carla A. Martinez

Genetic association study of putative functional single nucleotide polymorphisms of genes in folate metabolism and spina bifida.

OBJECTIVE We tested putative functional single nucleotide polymorphisms (SNPs) in genes that regulate the folate/homocysteine metabolism pathway for their contribution to spina bifida (SB) susceptibility. STUDY DESIGN The study consisted of 610 unrelated simplex SB patient families. Genotypes of 46 SNPs located in the coding sequence or promoter region of 11 genes were investigated. Associations between transmission of alleles and SB in the offspring were examined using the reconstruction combined transmission disequilibrium test. RESULTS Significant association of SNP rs5742905 in cystathionine-beta-synthase, rs1643649 in dihydrofolate reductase, rs2853533 in thymidylate synthetase, and rs3737965 in methylenetetrahydrofolate reductase was found (P = .015, .041, .021, and .007 respectively). CONCLUSION Transmission disequilibrium of SNP alleles in cystathionine-beta-synthase, dihydrofolate reductase, methylenetetrahydrofolate reductase, and thymidylate synthetase confers an increased susceptibility to SB.

Folate Metabolism Gene 5,10-Methylenetetrahydrofolate Reductase (MTHFR) Is Associated with ADHD in Myelomeningocele Patients

The objective of this study was to examine the relation between the 5, 10-methylenetetrahydrofolate reductase (MTHFR) gene and behaviors related to attention- deficit/hyperactivity disorder (ADHD) in individuals with myelomeningocele. The rationale for the study was twofold: folate metabolizing genes, (e.g. MTHFR), are important not only in the etiology of neural tube defects but are also critical to cognitive function; and individuals with myelomeningocele have an elevated incidence of ADHD. Here, we tested 478 individuals with myelomeningocele for attention-deficit hyperactivity disorder behavior using the Swanson Nolan Achenbach Pelham-IV ADHD rating scale. Myelomeningocele participants in this group for whom DNAs were available were genotyped for seven single nucleotide polymorphisms (SNPs) in the MTHFR gene. The SNPs were evaluated for an association with manifestation of the ADHD phenotype in children with myelomeningocele. The data show that 28.7% of myelomeningocele participants exhibit rating scale elevations consistent with ADHD; of these 70.1% had scores consistent with the predominantly inattentive subtype. In addition, we also show a positive association between the SNP rs4846049 in the 3′-untranslated region of the MTHFR gene and the attention-deficit hyperactivity disorder phenotype in myelomeningocele participants. These results lend further support to the finding that behavior related to ADHD is more prevalent in patients with myelomeningocele than in the general population. These data also indicate the potential importance of the MTHFR gene in the etiology of the ADHD phenotype.

White's classification of diabetes in pregnancy in the 21st century: Is it still valid?

Whites classification system (WCS) was created 60 years ago to identify diabetic (DM) pregnancies at increased risk for perinatal morbidity and mortality. Our objective was to assess the association between WCS and adverse pregnancy outcome (APO) in contemporary DM pregnancies. We studied diabetic women with singleton pregnancies who delivered at >20 weeks at a single institution over a 1-year period (2007 to 2008). Perinatal outcomes were compared between WCS groups. APO was defined as any of the following: preterm birth <34 weeks, severe preeclampsia, shoulder dystocia, and neonatal respiratory disease. Presence of vascular disease was defined as presence of chronic hypertension, chronic renal insufficiency, retinopathy, coronary artery disease, or prior cerebrovascular event. One hundred ninety-six DM pregnancies met the criteria. No significant differences in APO existed between Whites class groups among women with pregestational DM (32.7% class B versus 26.9% class C versus 57.1% class D to F; p = 0.46). Logistic regression revealed that vascular disease was associated with APO (odds ratio = 2.7, 95% confidence interval = 1.2 to 6.2). In our population, presence of vascular disease, rather than WCS, was a better predictor of APO in DM women.

Laparoscopy in the Morbidly Obese Pregnant Patient Using a Modified Foley Lap-Lift Technique: Case Report

Obesity in women of reproductive age is increasing. Gynecologic laparoscopy in the morbidly obese pregnant patient presents challenges, and is not often attempted. Herein is reported a successful case using a modified Foley lap-lift technique, which improved visualization and facilitated mechanical ventilation.