Prenatal diagnosis of genetic microcephaly

True microcephaly can be diagnosed at an early stage of gestation by serial measurements of fetal head growth as demonstrated by this case report in which the diagnosis of genetic microcephaly was made but termination refused. True microcephaly was evident at birth.     

Quantification of human amniotic fluid constituents by high resolution proton nuclear magnetic resonance (NMR) spectroscopy

We have investigated the ability of high-resolution proton NMR spectroscopy to provide a biochemical constituent screening of human amniotic fluid (AF). Proton NMR spectra were obtained at 300 MHz on AF from patients undergoing amniocentesis in the mid-trimester. Only AF from normal pregnancies (normal fetal karyotype, normal a-fetoprotein levels, normal birth outcome) was used in this study. The AF supernatant was lyophilized and resuspended in deuterated water containing 0.1 mm phosphate buffer and 6.02 mm disodium maleate. Identification of low molecular weight compounds was confirmed by two-dimensional NMR spectra (primarily correlated spectroscopy, or COSY) and standard addition techniques. A broad profile of compounds were ‘NMR visible’ in a single proton spectrum, including creatinine, glucose, organic acids (acetate, citrate, and lactate) and several amino acids (alanine, histidine, leucine, phenylalanine, tyrosine and valine). The proton spectrum was unaffected by prior freezing/thawing of AF samples. We were able to quantify compounds by comparison with an added concentration standard (maleate) at concentrations as low as 30 μm. Good agreement with literature values based on other analytical techniques was obtained.     

Gold mining in Siberia and the Far East as a source of mercury contamination of the environment

ＩｎｔｒｏｄｕｃｔｉｏｎＳｉｂｅｒｉａａｎｄｔｈｅＦａｒＥａｓｔａｒｅｔｈｅｏｌｄｅｓｔａｎｄｔｈｅｒｉｃｈｅｓｔｇｏｌｄ ｍｉｎｉｎｇａｒｅａｓｏｆＲｕｓｓｉａ .Ｉｎｔｅｎｓｉｖｅｇｏｌｄ ｍｉｎｉｎｇｈｅｒｅｓｔａｒｔｅｄｉｎｔｈｅｂｅｇｉｎｎｉｎｇｏｆｔｈｅ 19ｔｈｃｅｎｔｕｒｙ(Ｖｙａｚｅｌｓｈｃｈｉｋｏｖ ,1963) .Ｆｏｒｔｈｅｍｏｓｔｐａｒｔｇｏｌｄ ｂｅａｒｉｎｇｏｒｅｓａｎｄｓａｎｄｓｗｅｒｅｐｒｏｃｅｓｓｅｄｗｉｔｈｔｈｅｕｓｅｏｆａｍａｌｇａｍａｔｉｏｎｍｅｔｈｏｄｆｏｒｇｏｌｄｅ…