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Biomedical subjects

L Gay

Publications and source records attributed to L Gay.

14 recordsLinked to original sources

The DNA sequence and biological annotation of human chromosome 1.

The reference sequence for each human chromosome provides the framework for understanding genome function, variation and evolution. Here we report the finished sequence and biological annotation of human chromosome 1. Chromosome 1 is gene-dense, with 3,141 genes and 991 pseudogenes, and many coding sequences overlap. Rearrangements and mutations of chromosome 1 are prevalent in cancer and many other diseases. Patterns of sequence variation reveal signals of recent selection in specific genes that may contribute to human fitness, and also in regions where no function is evident. Fine-scale recombination occurs in hotspots of varying intensity along the sequence, and is enriched near genes. These and other studies of human biology and disease encoded within chromosome 1 are made possible with the highly accurate annotated sequence, as part of the completed set of chromosome sequences that comprise the reference human genome.

Base Sequence↗

Phylogeography of a game species: the red-crested pochard (Netta rufina) and consequences for its management.

Western European populations of red-crested pochard (Netta rufina) are characterized by low size and high fragmentation, which accentuate their sensitivity to hunting. Uncertainties regarding the demographic trends of these populations highlight the need for pertinent hunting regulations. This requires identification of the limits of the populations under exploitation, i.e. delimiting a management unit. We used the left domain of the mitochondrial control region and seven nuclear loci (four microsatellites and three introns) to assess the level of genetic structure and demographic independence between the fragmented Western European and the large Central Asian populations. The second objective was to investigate the colonization history of the Western European populations. This study demonstrated that the Western European populations of red-crested pochard constitute a separate demographic conservation unit relative to the Asian population as a result of very low female dispersal (mitochondrial DNA: PhiST = 0.152). A morphometric analysis further suggested that Central Asian and Western European specimens of both sexes originate from different pools of individuals. Male dispersal seems higher than female dispersal, as suggested by the lack of clear genetic structure for the nuclear markers at this continental scale. Genetic data, in conjunction with historical demographic data, indicate that the current Western European populations probably originate from a recent colonization from Central Asia. As numbers of red-crested pochards in Western Europe cannot be efficiently supplemented by immigration from the larger Asian populations, a management plan regulating the harvest in Western Europe is required.

Animals↗

Refinements of environmental assessment during an outbreak investigation of invasive aspergillosis in a leukemia and bone marrow transplant unit.

OBJECTIVES: To investigate an outbreak of aspergillosis in a leukemia and bone marrow transplant (BMT) unit and to improve environmental assessment strategies to detect Aspergillus. DESIGN: Epidemiological investigation and detailed environmental assessment. SETTING: A tertiary-care university hospital with a 37-bed leukemia and BMT unit PARTICIPANTS: Leukemic or BMT patients with invasive aspergillosis identified through prospective surveillance and confirmed by chart review. INTERVENTIONS: We verified the diagnosis of invasive fungal infection by reviewing medical charts of at-risk patients, performing a case-control study to determine risk factors for infection, instituting wet mopping to clean all floors, providing N95 masks to protect patients outside high-efficiency particulate air (HEPA)-filtered areas, altering traffic patterns into the unit, and performing molecular typing of selected Aspergillus flavus isolates. To assess the environment, we verified pressure relationships between the rooms and hallway and between buildings, and we compared the ability of large-volume (1,200 L) and small-volume (160 L) air samplers to detect Aspergillus spores. RESULTS: Of 29 potential invasive aspergillosis cases, 21 were confirmed by medical chart review. Risk factors for developing invasive aspergillosis included the length of time since malignancy was diagnosed (odds ratio [OR], 1.0; P=.05) and hospitalization in a patient room located near a stairwell door (OR, 3.7; P=.05). Two of five A. flavus patient isolates were identical to one of the environmental isolates. The pressure in most of the rooms was higher than in the corridors, but the pressure in the oncology unit was negative with respect to the physically adjacent hospital; consequently, the unit acted essentially as a vacuum that siphoned non-HEPA-filtered air from the main hospital. Of the 78 samples obtained with a small-volume air sampler, none grew an Aspergillus species, whereas 10 of 40 cultures obtained with a large-volume air sampler did. CONCLUSIONS: During active construction, Aspergillus spores may have entered the oncology unit from the physically adjacent hospital because the air pressure differed. Guidelines that establish the minimum acceptable pressures and specify which pressure relationships to test in healthcare settings are needed. Our data show that large-volume air samples are superior to small-volume samples to assess for Aspergillus in the healthcare environment.

Analysis of Variance↗

Which patients with ankylosing spondylitis derive most benefit from an inpatient management program?

OBJECTIVE: To evaluate the benefit achieved from an inpatient management program by testing the hypothesis that more mobile, younger patients on their first course show the most improvement. METHODS: We assessed 236 patients over an 18 month period. Patients were assessed at the beginning and end of the course by 4 indices, 3 of which were self-administered (disease activity, functional ability, and global well being) and one administered by a trained physiotherapist (metrology). Paired t tests and ordinary least squares regression analysis were used to compare pre and postcourse results for each index. RESULTS: The wide range of disease duration (0-53 years) and disease severity [0.69-9.39 (on a 0-10 scale)] reveal that patients are from a wide spectrum of disease. Results revealed a mean improvement of 18-27% over baseline in the 4 indices. Significant predictors of greater improvement over the 2 week course were found for each index. CONCLUSION: Our results confirm the benefit of an intensive regime of inpatient physiotherapy. Although the original hypothesis cannot be accepted or rejected as the results were different for the 4 indices, the following general conclusions may be drawn: (1) there is a trend for females to improve more than males; (2) patients who have attended fewer courses tend to achieve more improvement; (3) younger patients do better than older patients; and (4) age of disease onset has little effect.

Adult↗

Dietary hypercalciuria in patients with calcium oxalate kidney stones.

The relative importance of dietary factors in causing hypercalciuria was assessed in 282 unselected patients with calcium oxalate kidney stones. The 124 patients found to be hypercalciuric on either their customary free diet or on a 25-mmol (1000-mg) calcium defined diet (or both), were classified according to their pattern of calcium excretion on the two diets. Unexpectedly, about half of the patients who were hypercalciuric on their free diet exhibited a calcium excretion that fell markedly or normalized on the high-calcium defined diet. These patients were defined as having dietary hypercalciuria. For all 282 patients, multiple-regression analysis suggested that dietary sodium was at least as important as was dietary calcium, and more important than dietary protein, carbohydrate, phosphorus, purine, or oxalate, in contributing to calcium excretion on the free diet. Among the 124 hypercalciuric patients, urinary calcium excretion increased by 0.0193 mmol (0.77 mg) per mmol sodium excretion. Dietary habits, particularly a high sodium intake, may commonly contribute to hypercalciuria in patients with calcium oxalate stones.

Adolescent↗

Chitin content and chitin synthase activity as indicators of the growth of three different anaerobic rumen fungi.

Growth of three different anaerobic rumen fungi Neocallimastix frontalis, Piromonas communis and Sphaeromonas communis was assessed in vitro at regular intervals by measurements of protein and chitin content and of chitin synthase activity of the cell free extracts. Similar trends and a comparable amount of protein and chitin were observed in the three species. However, chitin synthase activity was higher in S. communis and contrary to the activity of the other two strains did not decrease after maximum enzyme activity was reached. There were positive correlations between chitin content, protein content and chitin synthase activity during the active growth phase of the fungi indicating that they could be confidently used to determine in vitro growth phase and biomass concentration.

Anaerobiosis↗

Protease activity in brain, nerve, and muscle of hens given neuropathy-inducing organophosphates and a calcium channel blocker.

Activity of calcium-activated neutral protease (CANP or calpain), an enzyme responsible for degradation of axonal and muscle cytoskeletal elements, was determined in brain, sciatic nerve, and gastrocnemius muscle of hens given tri-ortho-tolyl phosphate (TOTP, 360 mg/kg po) or active congener phenyl saligenin phosphate (PSP, 2.5 mg/kg im) with and without a calcium channel blocker which ameliorated clinical signs of organophosphate-induced delayed neuropathy (nifedipine 1 mg/kg/day x 5). Calcium channel blocker administration was initiated 1 day prior to administration of organophosphate (OP). OP administration caused an increase in CANP activity in brain within 4 days and in sciatic nerve and gastrocnemius muscle within 2 days of administration. This increase did not occur if nifedipine was administered to PSP-treated hens. Total sciatic nerve calcium concentrations were also increased by PSP, but not until OP-treated hens were no longer being administered calcium blockers. This indicates that calcium channel blockers may contribute to amelioration of organophosphate-induced delayed neuropathy by attenuation of calcium-mediated disruption of axonal and muscle cytoskeletal homeostasis.

Animals↗

A comparative study of drug metabolizing enzymes in adrenal glands and livers of rats and chickens.

1. Drug metabolizing enzymes (cytochrome P450, glutathione-S-transferase, carboxylesterase) were compared in livers and adrenal glands from rats and chickens. 2. Quantities of cytochrome P450 in chicken liver and adrenal glands were less than in rat liver and adrenals. 3. Activities of carboxylesterase and of glutathione-S-epoxide transferase were similar in livers of rats and chickens. 4. In the chicken, activities of carboxylesterase and of glutathione-S-epoxide transferase were less in adrenal glands than in livers. 5. Carboxylesterase enzyme activities in adrenal glands of chickens were more sensitive to inhibition by antiesterase agents than were carboxylesterase enzyme activities in liver.

Adrenal Glands↗

Laboratory procedures used in the diagnosis of systemic lupus erythematosus: a review.

The literature concerning the laboratory procedures presently available to aid in the diagnosis of systemic lupus erythematosus (SLE) was reviewed to determine which of these techniques could be most valuable in the detection and management of SLE patients. The LE cell test, once the laboratory basis for SLE diagnosis, was concluded to be insensitive, non-specific, and did not correspond to clinical activity of the patient. A second procedure, antinuclear-antibody detection, although very sensitive, was not specific for SLE; therefore, its value is limited for use as a screening technique to rule out SLE. The Farr anti-DNA precipitate immunoassay, used for the measurement of antibodies to DNA, was sensitive and specific, and also correlated well with the clinical condition of the patient. Therefore, the Farr binding assay is recommended as the laboratory procedure of choice since it is useful in monitoring disease activity and may contribute to earlier diagnosis and more precise management of SLE patients.

Antibodies, Antinuclear↗