ABSTRACT
MTHFR polymorphisms C677T and A1298C are associated with reduced MTHFR enzyme activity and hyperhomocysteinemia, which has been associated with osteoporosis. The A163G polymorphism in osteoprotegerin (OPG) has been studied in osteoporosis with controversial results. The objective of the present study was to investigate the association(s) among MTHFR C677T, MTHFR A1298C, and OPG A163G polymorphisms in Mexican patients with rheumatoid arthritis and osteoporosis. The femoral neck and lumbar spine bone mineral densities (BMDs) were measured in 71 RA patients, and genotyping for the three polymorphisms was performed via restriction fragment length polymorphism analysis. Patients with osteoporosis/osteopenia exhibited statistically significant differences in the genotype frequencies of MTHFR C677T as well as an association with femoral neck BMD; TT homozygotes had lower BMDs than patients with the CT genotype, and both of these groups had lower BMDs than patients with the CC genotype. The associations of the MTHFR C677T polymorphism with osteoporosis/osteopenia and femoral neck BMD suggest that these polymorphisms confer a risk of developing osteoporosis in patients with rheumatoid arthritis, a risk that may be reduced with folate and B complex supplementation.
Subject(s)
Arthritis, Rheumatoid/genetics , Methylenetetrahydrofolate Reductase (NADPH2)/genetics , Osteoporosis/genetics , Osteoprotegerin/genetics , Polymorphism, Single Nucleotide , Adult , Aged , Arthritis, Rheumatoid/enzymology , Bone Density , Female , Femur Neck/pathology , Genetic Association Studies , Haplotypes , Humans , Mexico , Middle Aged , Osteoporosis/enzymology , Polymorphism, Restriction Fragment Length , Statistics, NonparametricABSTRACT
BACKGROUND: The caudal duplication syndrome is defined by the association between gastrointestinal, genitourinary, and distal neural tube malformations and duplications. We presented a case report and the possible embryologic origin is discussed. CLINICAL CASE: We describe a twenty-one year female patient, with clinical and imaging diagnosis of caudal duplication. She has normal psychomotor development. CONCLUSIONS: The current case integrates a Caudal Duplication with no alteration of the spinal column. We propose that this malformation result from an insult in the primitive hindgut.
Subject(s)
Abnormalities, Multiple/pathology , Colon/abnormalities , Genitalia, Female/abnormalities , Urinary Bladder/abnormalities , Abnormalities, Multiple/embryology , Abnormalities, Multiple/genetics , Anus, Imperforate , Appendix/abnormalities , Chronic Disease , Constipation/etiology , Female , Gene Expression Regulation, Developmental , Hernia, Umbilical/etiology , Humans , Ovarian Cysts , Pubic Symphysis Diastasis/diagnostic imaging , Pubic Symphysis Diastasis/etiology , Radiography , Rectum/abnormalities , Wnt Signaling Pathway , Young AdultABSTRACT
Three siblings with postaxial polydactyly type A, congenital heart defect (single atrium), mental retardation, microcephaly, a distinctive facial appearance, skeletal anomalies and neonatal macrosomy were studied. Comparison with other cardiomelic syndromes previously described in the literature lead us to conclude that this is a new faciocardiomelic syndrome probably inherited as an autosomal recessive trait.
