Bone mineral density of the lumbar spine is associated with TNF gene polymorphisms in early postmenopausal Japanese women.

We investigated the relationships between tumor necrosis factor (TNF) gene polymorphism, circulating TNF-alpha (TNF-alpha) concentrations, and bone mineral density (BMD) in the lumbar spine. TNF gene polymorphisms studied were the Nco I polymorphism within the first intron of TNF-beta (TNF-beta) and three single nucleotide polymorphisms in the promoter region of the TNF-alpha gene, at positions -857, -863, and -1031. Allelic variants of the TNF gene were identified using restriction fragment length polymorphism (RFLP) analysis in 177 postmenopausal Japanese women within 10 years after menopause, aged 56.4 +/- 4.5 years (mean +/- SD). A significantly higher prevalence of the alleles TNF-alpha-863A (20.3% versus 9.9%) and TNF-alpha-1031C (21.3% versus 12.4%) was seen in the low BMD group (Z-score < 0, n = 91) than in the high BMD group (0 < Z-score, n = 86). In genotype analysis, although difference did not reach a significant level, women with the rarest allelic variants, i.e., homozygous TNFbl, TNF-alpha-863A, and TNF-alpha-1031C, showed the lowest BMD Z-scores. Women with another rarest allelic variant, TNF-alpha-857T/T had significantly lower BMD Z-scores than did women with TNF-alpha-857C/T or -857C/C. The BMD Z-score decreased significantly with an increase in the total number of such rare alleles. Serum concentrations of TNF-alpha did not differ significantly among groups divided by genotypes. Multiple linear regression analysis revealed that the total number of rare alleles, in addition to the body mass index and the number of years since menopause, was an independent predictor of the BMD. These presumptive functional polymorphisms of the TNF gene may be associated with the lumbar spine BMD in early postmenopausal Japanese women.

Prenatal diagnosis of limb-body wall complex.

OBJECTIVE: To evaluate prenatal diagnosis of limb-body wall complex (LBWC) by ultrasonography in eight cases. STUDY DESIGN: The diagnosis was based on two of the following: exencephaly/encephalocele with facial clefts, thoracoschisis and/or abdominoschisis and limb defect. The ultrasonographic findings were compared with the autopsy findings in each case. RESULTS: The average weeks of gestation at which malformations were diagnosed by ultrasonography was 21.7 +/- 4.7 (mean +/- SD, n = 8). All eight fetuses were diagnosed as having characteristic abnormalities and six of them as having scoliosis by ultrasonography. Four of the eight were examined for maternal serum alpha-fetoprotein (MSAFP); the levels exceeded 2.5 multiples of the mean according to the standard value at our hospital. Chromosomal analysis was performed for six cases and revealed that they were normal in karyotype. All eight cases showed abdominoschisis, scoliosis and abnormalities of the lower extremities. A single umbilical artery was present in seven cases (87.5%), and a short umbilical cord was present in seven (87.5%). CONCLUSION: Ultrasonographic detection of abdominoschisis, scoliosis abnormalities of the lower extremities, a single umbilical artery and a short umbilical cord is important for the prenatal diagnosis of LBWC. An extremely elevated level of MSAFP is also indicative of the complex.

Effects of dietary protein intake on renal function in humans.

The effects of an acute protein load on renal hemodynamic responses and plasma glucagon levels were investigated in 31 patients with biopsy proven chronic glomerulonephritis (24 cases) or chronic renal failure (6 cases). After baseline clearance measurements, the subjects ingested a high protein meal consisting of 1.2 to 1.5 g protein/kg body weight in the form of cooked beef followed by a second set of measurements. This acute protein load resulted in a rise of both creatinine and PAH clearances (from 86.5 +/- 6.0 ml/min to 98.3 +/- 7.1 ml/min and 531.1 +/- 59.1 ml/min to 688.9 +/- 72.9 ml/min, respectively). This was associated with an elevation of plasma glucagon levels from 104.6 +/- 7.9 pg/ml to 134.5 +/- 7.5 pg/ml. From these data we suggest that the augmentation of renal function following a high protein intake may be mediated by the simultaneous rise of plasma glucagon levels, and that the glucagon concentration in the portal vein rather than in the peripheral blood has a pivotal role in this setting.