Defects of lateralisation have previously been recognised in the offspring of women with type-1 diabetes. In a 3-year period, three of the six cases of left isomerism sequence notified to the ...Northern Region Congenital Abnormality Survey were the infants of diabetic mothers. This finding suggests a specific association between bilateral left-sidedness and maternal type-1 diabetes.
Abstract
A sea surface temperature (SST) analysis system designed to initialize short-term atmospheric model forecasts is evaluated for a month-long, relatively clear period in May 2004. System ...inputs include retrieved SSTs from the Geostationary Operational Environmental Satellite (GOES)-East and the Moderate Resolution Imaging Spectroradiometer (MODIS). The GOES SSTs are processed via a sequence of quality control and bias correction steps and are then composited. The MODIS SSTs are bias corrected and checked against the background field (GOES composites) prior to assimilation. Buoy data, withheld from the analyses, are used to bias correct the MODIS and GOES SSTs and to evaluate both the composites and analyses. The bias correction improves the identification of residual cloud-contaminated MODIS SSTs. The largest analysis system improvements are obtained from the adjustments associated with the creation of the GOES composites (i.e., a reduction in buoy/GOES composite rmse on the order of 0.3°–0.5°C). A total of 120 analyses (80 night and 40 day) are repeated for different experimental configurations designed to test the impact of the GOES composites, MODIS cloud mask, spatially varying background error covariance and decorrelation length scales, data reduction, and anisotropy. For the May 2004 period, the nighttime MODIS cloud mask is too conservative, at times removing good SST data and degrading the analyses. Nocturnal error variance estimates are approximately half that of the daytime and are relatively spatially homogeneous, indicating that the nighttime composites are, in general, superior. A 30-day climatological SST gradient is used to create anisotropic weights and a spatially varying length scale. The former improve the analyses in regions with significant SST gradients and sufficient data while the latter reduces the analysis rmse in regions where the innovations tend to be well correlated with distinct and persistent SST gradients (e.g., Loop Current). Data thinning reduces the rmse by expediting analysis convergence while simultaneously enhancing the computational efficiency of the analysis system. Based on these findings, an operational analysis configuration is proposed.
Neocentromeres are rare functional centromeres formed within noncentromeric chromosomal regions. We report the finding of a neocentromere in a very rare class II analphoid chromosome. This ...neocentromere was detected prenatally in a fetus with the karyotype: 47,XY,del(4)(p15.3q21.1),+r(4)(p15.3q21.1).ish del(4)(D4S3360+,WHS+,D4Z1-,4qsubtel+),r(4)(D4S3360-,WHS-,D4Z1+,4qsubtel-)de novo. The fetus was missing one normal chromosome 4 but had a ring chromosome, consisting of the pericentromeric region of chromosome 4, and a deleted chromosome 4, the reciprocal product of the ring formation. In situ hybridization established that the chromosome 4 pericentromeric heterochromatin was located on the ring chromosome, while the Wolf-Hirschhorn critical region and chromosome 4 subtelomeric regions were present on the deleted chromosome. A C-band-negative constriction was observed in band 4q21.2 of the deleted chromosome 4, indicating that a neocentromere had been formed in this band, allowing stable segregation during cell division. This chromosome abnormality was detected in cultured amniocytes from a 20-week pregnancy presenting with intrauterine growth retardation and echogenic bowel. The pregnancy resulted in intrauterine death at 33-34 weeks. Despite the apparently balanced karyotype, the fetus is likely to have been phenotypically impaired due to disruption of genes by the neocentromere, rearrangement and ring chromosome formation. There has been one previous report of neocentromere formation in band 4q21; the observation presented here might refine a putative common neocentromeric site to sub-band 4q21.2.
The prohibitive expense of designing PCR reactions to traverse any possible inversion breakpoint means that most genomic mutation screening strategies are incapable of detecting pathogenic ...inversions. Because RT-PCR of transcripts is sensitive to long range integrity of the gene, however, transcript based screening strategies of X linked genes can readily detect the presence of an inversion. ...the common factor VIII inversions responsible for 50% of cases of severe haemophilia A 10 were initially discovered through their effect on attempted RT-PCRs traversing the boundary between exons 22 and 23 of that gene. 21 The disruption of RT-PCR also contributed to our seeking an inversion in the patient described here.
Seckel syndrome (MIM 210600) is an autosomal recessive disorder of low birth weight, severe microcephaly, and dysmorphic facial appearance with receding forehead, prominent nose, and micrognathia. We ...have performed a genomic screen in two consanguineous families of Pakistani origin and found that the disorder segregates with markers between loci D3S1316 and D3S3710, which map to chromosome 3q22.1-q24. Analysis using HOMOZ/MAPMAKER gave a maximum LOD score of 8.72. All five affected individuals were homozygous for the same allele, for two adjacent polymorphic markers within the region segregating with the disease, narrowing the region to 12 cM.
The 2002 Winter Olympic and Paralympic Games will be hosted by Salt Lake City, Utah, during February-March 2002. Adverse weather during this period may delay sporting events, while snow and ...ice-covered streets and highways may impede access by the athletes and spectators to the venues. While winter snowstorms and other large-scale weather systems typically have widespread impacts throughout northern Utah, hazardous winter weather is often related to local terrain features (the Wasatch Mountains and Great Salt Lake are the most prominent ones). Examples of such hazardous weather include lake-effect snowstorms, ice fog, gap winds, downslope windstorms, and low visibility over mountain passes.
This work describes in situ moisture sensor comparisons that were performed in conjunction with the first Water Vapor Intensive Observation Period (IOP) conducted at the Atmospheric Radiation ...Measurement (ARM) Program Souther Great Plains (SGP) Cloud and Radiation Testbed (CART) site during September of 1996. Two Raman lidars, two Atmospheric Emitted Radiance Interferometers, (AERIs), and a suite of 13 microwave radiometers were assembled at the CART site during the IOP, and in situ measurements were used for calibration and verification.
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