Activity of biotin-dependent and gaba metabolizing enzymes in chorionic villus samples: Potential for 1st trimester prenatal diagnosis

We have documented the presence of five mitochondrial enzymes in samples of chorionic villus tissue and measured the levels of activity. Three of the enzymes catalyse biotindependent reactions. These are propionyl-CoA carboxylase, 3-methylcrotonyl-CoA carboxylase and pyruvate carboxylase. the other enzymes. 4-aminobutyric acid aminotransferase and succinic semialdehyde dehydrogenase, are involved inthe degradation of the central inhibitory neurotransmitter GABA. Distinct diseases in whichthere is deficiency of each of these enzymes have been documented in man. Significant levels of activity were observed for all five enzymes in chorionic villus tissue. This methodology should permit early prenatal diagnosis of deficiencies of these enzymes by chorionic villus biopsy in the first trimester.     

Restrictive dermopathy and fetal behaviour

We report three siblings from consecutive pregnancies affected with restrictive dermopathy (RD). During the second pregnancy, fetal behavioural development and growth were studied extensively using ultrasound at 1–4 week intervals. Dramatic and sudden changes occurred in fetal body movements and growth but not until the end of the second trimester of pregnancy. Prominent at that time were prolonged periods of fetal quiescence and very low heart rate variability, together with abnormally executed body movements of short duration. Retarded femoral development and jerky abrupt fetal body movements (abnormal movement quality) were already present in the early second trimester of pregnancy. Facial anomalies emerged despite the presence of fetal mouth movements. The clinical features of RD were only partly explained by present knowledge of skin development and the fetal akinesia deformation sequence hypothesis. Quantitative assessment of fetal movements proved to be a poor early marker for antenatal diagnosis of this disorder. Copyright © 2001 John Wiley & Sons, Ltd.     

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.     

Maternal serum alfa-fetoprotein levels in the pregnancy complicated by hypertension

Maternal serum alpha-fetoprotein (MSAFP) was determined in patients 33 to 40 weeks pregnant, and the results were analysed with consideration of the presence and quality of hypertensive disease that complicated many of the pregnancies. Patients with incompletely controlled hypertension had significantly higher MSAFP levels than control patients with pregnancies uncomplicated by any risk factor. MSAFP elevation was greatest in pre-eclampsia (301·6 ± 147·6 kU/L, n = 35) > chronic hypertension with superimposed pre-eclampsia (240·4±74.7 kU/L, n = 30) > chronic hypertension (204·1± 105·3 kU/L, n=141). Each was significantly increased (P< 0·0001) over control pregnant patients' levels (104·3 ± 38·8, n= 187). At each gestational week from 33 weeks to term, MSAFP of combined hypertensive women was significantly greater than corresponding control levels (P< 0·003 to < 0·000l). The magnitude and time of onset of MSAFP increase may indicate severe fetal distress.     

Odor concentration decay and stability in gas sampling bags

This paper presents results of an experimental study into factors contributing to decay of odor samples during storage, between 4 and 40 hr after sample collection. The odor studied was sampled from a tobacco processing plant as part of collaborative research with a view to establishing a manual outlining methods for odor annoyance management, specifically for the tobacco industry. In August and September 1997, an experimental program was carried out in which two types of tobacco odor were sampled: Burley Toaster and Mix. The dependent variable was odor concentration in the bag, measured by dynamic olfactometry in accordance with the draft Comité Européen de Normalisation (CEN) standard EN13725 "Air Quality-Determination of Odor Concentration by Dynamic Olfactometry." The independent variables were sampling bag material, degree of dilution during sampling, dilution gas used, particle removal during sampling, and age of sample in hours. In the first phase, 94 odor analyses were carried out. In a second test, 32 samples were analyzed for odor concentration. In addition, 16 samples were analyzed using gas chromatography-mass spectrometry (GC-MS). Analysis of the results (analysis of variance) led to the unexpected conclusion that Nalophan film bags performed significantly better than metalized Cali-Bond layered film as a bag material. The odor concentration of samples in Nalophan bags remained relatively stable between 4 and 12 hr after sampling. After 30 hr, decay to about half the initial concentration, as measured at 4 hr, was observed. Particle removal during sampling caused the odor concentration in the bags to be reduced by approximately 20%. For practical reasons, particle removal remains useful, to avoid contamination of equipment. Using air or nitrogen as the neutral gas for pre-dilution during sampling or the dilution factor used (between factor 2 and 6) did not appear to have an effect on the decay characteristic of odor samples. The following recommendations are suggested for the practice of collecting odor samples and apply specifically to tobacco processing emissions: Analyze samples as soon as possible, preferably within 12 hr; When samples age for more than 12 hr, decay is likely to cause a reduction in odor concentration to half the original concentration at age 30 hr; Use sampling bags made of Nalophan NA or benchmark performance of other materials against Nalophan NA before using alternative materials; Use pre-dilution when sampling only for the purpose of avoiding condensation during sample storage. Use an appropriate minimum dilution factor to avoid condensation; Both nitrogen and high-purity (synthetic) air are suitable to use as neutral gas for pre-dilution; and When sampling tobacco odors, use an odorless filter to remove particles. This practice removes a source of variation and avoids contamination of equipment. The effect on results, despite being consistently lower in odor concentration, is not meaningful in terms of perceived intensity or annoyance potential.     

Graduate Education for Air Pollution Control Personnel

Tendergreen bean plants were grown from seeding to seed maturity under continuous exposure to HF gas at fairly uniform concentrations averaging 0.58, 2.1, 9.1, and 10.5 µg F/m³. Progeny of these plants and of comparable control plants were grown in a clean atmosphere to determine if subsequent generations were affected by HF treatment of the parents.

No effects of HF were found among the progeny of the plants grown at 0.58 µg F/m³. The F₁ generation progeny of the other HF treated plants were less vigorous than control plant progeny, as shown by later emergence, smaller primary leaves, and slower stem growth. This probably was a consequence of the lower starch content of the seed of the HF treated plants. The primary leaves of some F₁ progeny of the plants grown in the three highest HF treatments were severely stunted and distorted. This also may have been due to the low starch content of the seed, or perhaps it resulted from damage to the plumules in shriveled, distorted seed produced in these treatments.

Some of the early trifoliate leaves of many F₁ generation progeny of the plants grown at 2.1 µg F/m³ and higher were abnormal in the separation and number of their leaflets. This abnormality apparently was heritable, for in the next (F₂) generation it occurred most frequently among plants whose parents were abnormal. However, considerably fewer F₃ generation plants had abnormal trifoliate leaves, indicating rapid reversal to the normal form.     

The Radial Distribution of Sulfur Dioxide Source Strength and Concentration in Nashville

This progress report describes the National Air Pollution Technical Information Center currently under development in the Division of Air Pollution, Public Health Service. It briefly reviews the report "Science, Government, and Information" (Weinberg Report) and the White House delegation of responsibility to the Department of Health, Education, and Welfare for handling air pollution technical information.     

Particulate Sulfates in Pittsburgh Air

Atmospheric dustfall was qualitatively examined for sulfate content by the techniques of chemical micrurgy. Quantitative assessment of suspended sulfate particulate according to size was by cascade impactor sampling and turbidimetric analysis of stage washings as BaSO₄. Sulfate particles less than 1.9 micron mass median diameter in size contributed approximately 43% by weight and 90% by number to total particulate sulfate in Pittsburgh air. The mechanics of particulate sulfate formation in the atmosphere are discussed on the basis of these findings.     

The Effect of Nucleating Particulates on Photochemical Aerosol Formation

The role of nucleating particulates in the formation of photochemical aerosols has been studied in a steady, laminar flow of ultrafiltered air containing NO₂ and octene-1 in the concentration range of (30 to 170 ppm) when subjected to intense irradiation under isothermal conditions. The particulates consisted of monodisperse polystyrene latex (d = 0.36 μ.) in concentrations similar to those in the atmosphere (6 × 10¹ to 3 × 10³ cm^–3); the irradiation intensity varied between (6 to 40 × 10³ lumen/liter) and the mean exposure duration between 30 and 180 sec. Samples of the flow prior to and after its photoactivation were withdrawn either by an Aerosol Spectrometer (AS) or by a Royco Aerosol Photometer (PH). While these indications refer thus to the same system, they differ, because the photometric data include all colloidal components in the airborne state, whereas the counts obtained from the AS deposits refer only to the nucleated latex particles. The following pattern becomes evident: The photochemical reaction yields fractional products (less than three percent) which have the tendency to agglomerate (or polymerize) due to their relatively low volatility—independent of the presence or absence of nucleating particulates. In their presence, this reaction becomes kinetically more probable and thus faster, hence the accumulant formation occurs preferably on the nuclei and causes their growth such that, e.g., a 10-fold higher nuclei concentration will produce under the same conditions 10 times the accumulant mass while autonucleation is suppressed. The growth process appears thus principally different from that of fog formation by H₂O-condensation, whereas for identical super saturation it is inversely proportional to the nuclear concentration. In the absence of nuclei autonucleation, i.e., self-agglomeration, occurs at a much lesser reaction rate and higher photon demand. The growth rate of the nuclei, when present, depends on the concentration of the oxidation catalyst (NO₂), its interaction with the nuclei surface is indicated. Under identical conditions the mass of nuclear accumulant is directly proportional to the concentration of the reactive hydrocarbon, while the growth rate depends on the light intensity and the exposure duration. The findings indicate that density and nature of particulate matter present in an air mass prior or during photo-activation are—aside from the chemical reactant levels—of major significance in aerosol formation.