Early prenatal diagnosis of congenital hypophosphatasia: Case report

Congenital hypophosphatasia is an autosomal recessive disorder, which usually has a fatal outcome during the neonatal period. This report presents the prenatal diagnosis of hypophosphatasia at 16 weeks of gestation. The characteristic ultrasonic findings in this abnormality demonstrate the superiority of ultrasound as compared with radiography.     

Immediate prenatal diagnosis of Zellweger syndrome by direct measurement of very long chain fatty acids in chorionic villus cells

We report a gas chromatographic-mass spectrometric method which allows the very long chain fatty acids content of trophoblastic tissue to be directly measured in samples collected by biopsy between 8 and 11 weeks of gestation. This method has been successfully applied to the detection of fetal Zellweger syndrome in two pregnant women who had previously delivered affected infants. In one of them, increased concentrations of C26:0 (0.254 versus 0.108±0.035 μ/mg proteins) and C24:0 (1.32 versus 0.815±0.325 μ/mg proteins) in trophoblast indicated that the fetus had Zellweger syndrome, a diagnosis confirmed by pathological findings after abortion. In the second case, the pregnancy was allowed to proceed, on the basis of normal concentrations of very long chain fatty acids in trophoblastic tissue, and its outcome was actually a healthy newborn.     

Zur Ursache,Form und Chemie der Gallensteine

Gallstones are precipitations of oversaturated bile fluid. They can develop in the gallbladder and in the efferent bile ducts; they are very often correlated with diseases of the gallbladder, bile ducts and neighboring organs. The gallstone disease (cholelithiasis) is increasing continually, especially in developed countries with overcaloric nourished population. Surgical interventions on the biliary tract are the most frequent abdominal operations at present.     

Response of “Alamo” switchgrass tissue chemistry and biomass to nitrogen fertilization in West Tennessee,USA

Switchgrass (Panicum virgatum) is a perennial, warm-season grass that has been identified as a potential biofuel feedstock over a large part of North America. We examined above- and belowground responses to nitrogen fertilization in “Alamo” switchgrass grown in West Tennessee, USA. The fertilizer study included a spring and fall sampling of 5-year old switchgrass grown under annual applications of 0, 67, and 202 kg N ha^?1 (as ammonium nitrate). Fertilization changed switchgrass biomass allocation as indicated by root:shoot ratios. End-of-growing season root:shoot ratios (mean ± SE) declined significantly (P ≤ 0.05) at the highest fertilizer nitrogen treatment (2.16 ± 0.08, 2.02 ± 0.18, and 0.88 ± 0.14, respectively, at 0, 67, and 202 kg N ha^?1). Fertilization also significantly increased above- and belowground nitrogen concentrations and decreased plant C:N ratios. Data are presented for coarse live roots, fine live roots, coarse dead roots, fine dead roots, and rhizomes. At the end of the growing season, there was more carbon and nitrogen stored in belowground biomass than aboveground biomass. Fertilization impacted switchgrass tissue chemistry and biomass allocation in ways that potentially impact soil carbon cycle processes and soil carbon storage.