Serum screening for Down's syndrome. Keeping the concept of risk simple.
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Biomedical subjects
Publications and source records attributed to J F Smith.
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The evolution of thorn-like structures in plants on oceanic islands that lack mammalian and reptilian herbivores is puzzling, as is their tendency toward juvenile-adult leaf dimorphism. We propose that these traits arose in Cyanea (Campanulaceae) on Hawaii as mechanical and visual defenses against herbivory by flightless geese and goose-like ducks that were extirpated by Polynesians within the last 1600 years. A chloroplast DNA phylogeny indicates that thorn-like prickles evolved at least four times and leaf dimorphism at least three times during the last 3.7 million years. The incidence of both traits increases from Oahu eastward toward younger islands, paralleling the distribution of avian species apparently adapted for browsing. The effectiveness of visual defenses against avian browsers (once dominant on many oceanic islands, based on the vagility of their ancestors) may provide a general explanation for insular heterophylly: the other islands on which this previously unexplained phenomenon is marked (New Zealand, New Caledonia, Madagascar, Mascarene Islands) are exactly those on which one or more large flightless avian browsers evolved.
Viral pathogenesis can be described as a series of steps, analogous to a biochemical pathway, whose endpoint is disease of the infected host. Distinct viral functions may be critical at each required step. Our genetic approach is to use Venezuelan equine encephalitis virus (VEE) mutants blocked at different steps to delineate the process of pathogenesis. A full-length cDNA clone of a virulent strain of VEE was used as a template for in vitro mutagenesis to produce attenuated single-site mutants. The spread of molecularly cloned parent or mutant viruses in the mouse was monitored by infectivity, immunocytochemistry, in situ hybridization and histopathology. Virulent VEE spread through the lymphatic system, produced viremia and replicated in several visceral organs. As virus was being cleared from these sites, it began to appear in the brain, frequently beginning in the olfactory tracts. A single-site mutant in the E2 glycoprotein appeared to block pathogenesis at a very early step, and required a reversion mutation to spread beyond the site of inoculation. The feasibility of combining attenuating mutations to produce a stable VEE vaccine strain has been demonstrated using three E2 mutations.
When people with disabilities, ethnic minorities, older adults, women, and others lack power, they usually experience adverse conditions disproportionate to other members of society. Empowerment--the process by which people gain some control over valued events, outcomes, and resources--is an important construct for understanding and improving the lives of people of marginal status. This manuscript presents a contextual-behavioral model of empowerment and its application in collaborative research with people with physical disabilities. The eight case studies illustrate 18 tactics for promoting empowerment that flow from the model. The case studies show the use of different combinations of empowerment tactics in a variety of contexts: (a) setting improvement agendas from the perspective of people with disabilities, (b) enforcing ordinances that preserve access to parking spaces designated for people with disabilities, (c) enabling access to homes through housing modifications, (d) enhancing support available through mutual-aid groups, (e) developing skills for recruiting mentors, (f) promoting self-directed behavior change with personal and health concerns, (g) enhancing skills for personal self-advocacy, and (h) building the capacities of groups of people with disabilities for systems advocacy. Finally, we discuss issues that may contribute to research and action related to empowerment.
We measured surfactant protein A (SP-A) by ELISA using a rabbit antihuman SP-A polyclonal antibody and saturated phosphatidylcholine (SPC) by thin-layer chromatography in sequential tracheal fluid samples obtained from 16 preterm neonates without lung disease and 37 with respiratory distress syndrome (RDS). SP-A and SPC were lower in neonates with RDS than in control infants (1.0 +/- 0.1 versus 8.9 +/- 2.2 ng SP-A/microgram protein [p < 0.0001] and 0.20 +/- 0.05 versus 0.70 +/- 0.19 mumol SPC/mg protein [p < 0.01], respectively). Initial SP-A concentrations correlated inversely with severity of RDS (r = 0.45, p < 0.01) but did not correlate with initial SPC levels. Significant increases in SP-A were detectable within 12 to 24 h after birth in neonates with RDS. Further increases occurred subsequently and were similar for neonates treated with either a synthetic (Exosurf) or a modified natural (Survanta) surfactant. Using two-dimensional gel electrophoresis, SP-A in tracheal fluid obtained during the early and recovery phases of RDS exhibited lesser degrees of posttranslational modification than SP-A forms from control neonates. Administration of Exosurf or Survanta resulted in comparable increases in SPC in tracheal fluid. Preterm neonates with RDS seem to have an immature SP-A metabolism that persists for several days after birth. The type of surfactant used does not modify the recovery of SP-A or SPC in tracheal fluid from infants with RDS.
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A study was undertaken to evaluate the safety of magnetic resonance imaging (MRI) of metallic implants used in cranio-orbital reconstruction (stainless steel wire and titanium and Vitallium plates) and also to compare the degree of artifact created on computed tomographic (CT) scanning and MRI by each material. Samples of each material were tested for deflection (movement) in a 1.5-T MRI field and for temperature change under conditions simulating a clinical MRI scan. None of the materials exhibited any deflection, and none exhibited any significant temperature change compared with water. Standardized bars of each material and commonly used, commercially available titanium and Vitallium implants (plates, mesh) were evaluated for artifact. On blinded evaluation by three radiologists and on quantitative computer analysis of the CT images, the stainless steel produced the most artifact on both CT scan and MRI, followed by the Vitallium, with the least artifact caused by titanium. All the titanium images were felt to be acceptable to detect orbital pathology, while only the images with the thinnest Vitallium (micromesh) implant were acceptable.
BACKGROUND: Crigler-Najjar disease, a rare cause of maternal unconjugated hyperbilirubinemia in pregnancy, poses no threat to the mother, and the elevated bilirubin levels do not seem harmful to the fetus. However, the disease is expressed in two forms, one of which is fatal. CASE: The maternal total bilirubin (mostly unconjugated) was 8.5 mg/dL in the first trimester, fell to 5.0 mg/dL in the second, and rose again to 8.8 mg/dL at term. The infant was jaundiced at birth, with umbilical cord total bilirubin at 7.6 mg/dL. The jaundice resolved without treatment, and no sequelae of hyperbilirubinemia were present. CONCLUSION: Crigler-Najjar disease type II seems to pose no unique maternal risk during pregnancy. The fetus seems to be resistant to elevated maternal unconjugated bilirubin, but the neonate may required therapy for hyperbilirubinemia.
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Amino acid (aa) sequences of transcription factor IIIA (TFIIIA) from the toad, Bufo americanus, and the grass frog, Rana pipiens, were determined by cDNA cloning and DNA sequencing. The 3'-untranslated regions of the cDNAs reveal that the TFIIIA gene polyadenylation signal is ATTAAA, rather than the conventional AATAAA. The B. americanus and R. pipiens proteins share about 60% aa sequence homology with each other and with Xenopus laevis TFIIIA. Although these results indicate that TFIIIA has more sequence variation than other DNA-binding proteins, a number of conserved features are evident and of likely functional significance. These include potential guanine nucleotide-binding sites at arginines in zinc fingers (ZnF) II, V, and IX, acidic residues between metal-coordinating cysteines, and a basic region in the C-terminal tail possibly involved in transcription promotion. Sequence similarity also exists in an aa stretch bridging the ninth ZnF and C-terminal tail of both TFIIIA and the 5S RNA-binding protein, p43. DNase I protection analyses demonstrate that B. americanus and R. pipiens TFIIIA interact with the internal control region (ICR) of the Xenopus borealis 5S RNA-encoding gene (5S) in different manners: the B. americanus interaction is similar to X. laevis TFIIIA, protecting the entire 5S gene ICR (nt +96 to +43) from DNase I digestion, whereas the R. pipiens TFIIIA strongly protects the ICR from nt +96 up to +78 and less strongly from +78 to +43. Possibly accounting for the binding differences observed, R. pipiens and R. catesbeiana oocyte 5S RNAs (and by inference 5S genes) were found to contain a G or U at nt position 50 while B. americanus, X. laevis, and other eukaryotic 5S RNAs have an A in the analogous position (nt 53 in generalized eukaryotic structure).
There are no absolute objective diagnostic criteria for cervical incompetence. Abdominal and endovaginal ultrasonographic assessment of endocervical length, both of which have been associated with technical problems, have been used to establish the diagnosis. Cervical cerclage may be useful in preventing silent cervical dilatation; however, no prospective trials with and without cerclage have been performed when endocervical shortening has been demonstrated by ultrasonography.
Fetal trauma resulting in acute anemia after maternal blunt abdominal trauma is a rare but potentially lethal condition. We recently managed such a case with the use of fetal intravascular transfusion.
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Although analysis of lactate concentrations with a Yellow Springs Instruments (YSI) automated analyzer has become very popular in Sports Medicine, the accuracy and reliability of this technique has not been carefully studied. Additionally, the influence of a common lysing agent Triton X-100 (TX) on blood lactate measurements has not been determined. Blood was collected from each of ten subjects at rest and 2, 6, 10, 14 and 20 minutes following maximal exercise (60 samples). Lactate concentration was measured by the YSI and Boehringer Mannheim (BMM) techniques. Two YSI 23L analyzers were supplied with buffer with TX (YSITX), and two without (YSINON) to permit comparisons of lysed and unlysed whole blood lactate levels over the physiological range. MANOVA analysis revealed a statistical difference (p less than .05) between duplicates only for one machine, and duplicates of that machine differed by less than 3%. Mean measurements between similarly prepared machines differed significantly for the NONTX machines, but only by less than 3%. Differences were significant between BMM and YSINON, but not between BMM and YSITX. Regression analysis indicated close agreement between BMM and YSITX (R2 = .99). There was a tendency for a large discrepancy between methods at resting concentrations.
Despite the popularity of measuring blood lactic acid concentrations, many of the common variations in technique have not been evaluated. The purposes of this study were to: 1) establish the relationship between plasma and blood lactate concentrations, 2) determine the inter-analyzer reliability, and 3) assess the stability of lactate concentration in blood stored for up to one week. Blood was sampled from 26 volunteers before exercise, at 80% of estimated maximum heart rate, and 5 minutes after a treadmill run to exhaustion. Inter-machine reliability was tested between two Yellow Springs Instruments analyzers with buffer treated with a lysing agent and between two without. Blood lactate levels at all three levels could be predicted from plasma with R2 greater than .95. Correlations between duplicates on the same machine were greater than .96 for blood and .97 for plasma. In the worst cases, between duplicate differences and between machine differences were 2%. Lactate in stored blood was in some cases significantly different after 24 hours of storage. Moderate and high lactate concentrations in plasma were not significantly altered after 2 days of storage.
Laparoscopic cholecystectomy has essentially replaced open cholecystectomy as the procedure of choice for gallbladder disease. This rapid shift to laparoscopic cholecystectomy, however, has resulted more from marketing forces than from prospective clinical trials. To evaluate the safety and efficacy of laparoscopic cholecystectomy, the first 486 laparoscopic cholecystectomies at two institutions were studied. These results were then compared to the results of the last 6 months of elective open cholecystectomy cases prior to the introduction of laparoscopic surgery. The age, sex, height, and weight were similar in both groups. The mean operative time was 78.8 +/- 1.8 min for laparoscopic cholecystectomy and 62.7 +/- 2.6 min for open cholecystectomy (p < 0.01). The mean time for tolerating a regular diet was 1.23 +/- 0.04 days in the laparoscopic group versus 2.44 +/- 0.07 days in the open group (p < 0.01). Laparoscopic cholecystectomy patients required only oral pain medications by a mean of 1.22 +/- 0.03 days postoperatively compared to 2.55 +/- 0.07 days postoperatively for those undergoing open cholecystectomy (p < 0.01). The mean length of hospitalization was 1.58 +/- 0.07 days for laparoscopic patients and 3.55 +/- 0.11 days for open patients (p < 0.01). Thirty-one patients undergoing laparoscopic cholecystectomy were converted to open cholecystectomy (6.4%). The most common reasons for conversion to open cholecystectomy were acute inflammation, adhesions, and bleeding. For the laparoscopic patients, the morbidity rate was 8.4% and the mortality rate 0.2% (1 death). In the open cholecystectomy group the morbidity rate was 8.0% and there were no deaths. The most troublesome complication in laparoscopic cholecystectomies continues to be bile leaks and bile duct injuries.(ABSTRACT TRUNCATED AT 250 WORDS)