Exencephaly in autosomal dominant brachydactyly syndrome

Exencephaly was diagnosed at 17 weeks in a 27-year-old primigravida with abnormalities of the hands and a family history suggestive of autosomal dominant brachydactyly and clinodactyly. In this family there was also a history of ‘anencephaly’. To our knowledge, this is the first report on the association of exencephaly and autosomal dominant brachydactyly. As the relationship between hand and cranial anomalies is well established, we suggest that this association in our case could be due to a defect in the same gene.     

Fetal cholecystomegaly: A prenatal marker of aneuploidy

The fetal gall bladder can now be easily identified during the second and third trimesters using high-resolution ultrasonography. In this report we present eight fetuses with an enlarged gall bladder detected on prenatal ultrasonography at a mean gestational age of 24.6 weeks (range 19–31 weeks). Additional ultrasonographic findings were present in four cases: fetal anomalies and intrauterine growth retardation in three and polyhydramnios in one. Of those cases associated with fetal anomalies, one woman underwent amniocentesis at 21 weeks revealing trisomy 18. The other two declined prenatal karyotyping; neonatal karyotyping revealed trisomy 13 in one and trisomy 18 in the other. Although an enlarged fetal gall bladder can be a normal variant in the second and third trimesters, the prenatal detection of cholecystomegaly should prompt a search for associated anomalies and other markers of aneuploidy. If found, prenatal karyotyping should be considered.     

Fetal cystic hygromata: Insights gained from fetal blood sampling

Twelve second-trimester fetuses with cystic hygroma underwent fetal blood sampling for rapid karyotyping, haematologic evaluation, and blood gas analysis. An abnormal karyotype was found in seven cases: monosomy X in five, trisomy 21 in one, and trisomy 13 in the other. Eight often fetuses undergoing blood gas analysis showed hypoxaemia, five of which were growth-retarded. Nine pregnancies were terminated. Of the remaining three, only one fetus survived the perinatal period.     

Intrauterine manometry: Technique and application to fetal pathology

A technique is described for measuring pressure within the amniotic cavity and within fetal vessels and/or body compartments. Two saline-filled catheters were connected at one end to needles inserted during indicated invasive procedures and at the other to silicon strain gauge transducers. In 36 pregnancies with normal liquor volume, stable intra-amniotic pressure (IAP, range 1–14 mmHg) increased with gestation (r=0·48, p<0·01). In pregnancies complicated by severe oligohydramnios, IAP was ≤ 1 mm Hg and rose to normal levels with saline amnioinfusion. Raised IAP (range 17–26 mm Hg), found in pregnancies with gross polyhydramnios, fell with drainage of amniotic fluid. Subtraction manometry was used to determine supra-amniotic pressure within the intervillus space, umbilical vein, umbilical artery, abdominal and thoracic cavities, and the urinary tract in normal and/or pathological fetuses. Low intravesical and intrapelvicalyceal pressures (median 6·5, range 2–10 mmHg) were noted in fetuses with obstructive uropathies. Intrauterine subtraction manometry appears to be a useful tool in the understanding of fetal pathophysiology and may be of clinical benefit in the therapeutic drainage and infusion of amniotic fluid and in the assessment of certain fetal disease states.     

Evaluation of radon mitigation systems in 14 houses over a two-year period

Fourteen single-family detached houses in Spokane, Washington, and Coeur D'Alene, Idaho, were monitored for two years after high concentrations of indoor radon had been mitigated. Each house was monitored quarterly using mailed alpha-track radon detectors deployed in each zone of the structure. To assess performance of mitigation systems during the second heating season after mitigation, radon concentrations in seven houses were monitored continuously for several weeks, mitigation systems in all houses were inspected, and selected other measurements were taken. In addition, occupants were also interviewed regarding their maintenance, operation, and subjective evaluation of the radon mitigation systems. Quarterly alpha-track measurements showed that radon levels had increased in most of the homes during many follow-up measurement periods when compared with concentrations measured immediately after mitigation. Mitigation-system performance was adversely affected by (1) accumulated outdoor debris blocking the outlets of subsurface pressurization pipes; (2) fans being turned off (e.g., because of excessive noise or vibration); (3) air-to-air heat exchanger, basement pressurization, and subsurface ventilation fans being turned off and fan speeds reduced; and (4) crawl-space vents being closed or sealed.     

Essential and non-essential element concentrations in two sleeper shark species collected in arctic waters

A number of elements/metals have increased in arctic biota and are of concern due to their potential toxicity. Most studies on elements in the Arctic have focused on marine mammals and seabirds, but concentrations in the Greenland shark (Somniosus microcephalus) and Pacific sleeper shark (Somniosus pacificus), the only two shark species known to regularly inhabit arctic waters, have never been reported. To address this data gap, concentrations and patterns of 25 elements were analyzed in liver of Greenland sharks collected about Cumberland Sound (n=24) and Pacific sleeper sharks collected about Prince William Sound (n=14). Several non-essential elements differed between species/locations, which could suggest geographical exposure differences or ecological (e.g., diet) differences between the species. Certain essential elements also differed between the two sleeper sharks, which may indicate different physiological requirements between these closely related shark species, although information on such relationships are lacking for sharks and fish.     

Whose lawn is it anyway? Redefining problems and the implementation of municipal stormwater policies

Research of problem definitions typically centres on agenda setting and formulation with less attention given to implementation. In recognition of this gap, this analysis examines the relationship between issue definition, issue redefinition and policy implementation by reviewing two municipal stormwater plans. The results suggest that in larger issue contexts replete with ambiguity and uncertainty, problem definitions are often “tweaked” and adapted during the implementation process. In short, street-level bureaucrats craft “genetically related” but idiosyncratic problem definitions – that fit their own policy-making context. In the case of stormwater, “solutions”; are best described as dynamic policies built upon the values associated with technical expertise, public participation and environmental sustainability.     

Evaluation of Radon Mitigation Systems in 14 Houses Over a Two-year Period

Fourteen single-family detached houses In Spokane, Washington, and Coeur D’Alene, Idaho, were monitored for two years after high concentrations of indoor radon had been mitigated. Each house was monitored quarterly using mailed alpha-track radon detectors deployed in each zone of the structure. To assess performance of mitigation systems during the second heating season after mitigation, radon concentrations in seven houses were monitored continuously for several weeks, mitigation systems In all houses were inspected, and selected other measurements were taken. In addition, occupants were also interviewed regarding their maintenance, operation, and subjective evaluation of the radon mitigation systems. Quarterly alpha-track measurements showed that radon levels had increased In most of the homes during many follow-up measurement periods when compared with concentrations measured immediately after mitigation. Mitigation-system performance was adversely affected by (1) accumulated outdoor debris blocking the outlets of subsurface pressurization pipes; (2) fans being turned off (e.g., because of excessive noise or vibration); (3) air-to-air heat exchanger, basement pressurization, and subsurface ventilation fans being turned off and fan speeds reduced; and (4) crawlspace vents being closed or sealed.