882 research outputs found
Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36
Kufor-Rakeb syndrome is an autosomal
recessive nigro-striatal-pallidal-pyramidal
neurodegeneration. The onset is in the
teenage years with clinical features of Parkinson’s
disease plus spasticity, supranuclear
upgaze paresis, and dementia. Brain
scans show atrophy of the globus pallidus
and pyramids and, later, widespread cerebral
atrophy. We report linkage in Kufor-
Rakeb syndrome to a 9 cM region of
chromosome 1p36 delineated by the markers
D1S436 and D1S2843, with a maximum
multipoint lod score of 3.6.
(J Med Genet 2001;38:680–682
Computer-assisted polyp matching between optical colonoscopy and CT colonography: a phantom study
Potentially precancerous polyps detected with CT colonography (CTC) need to
be removed subsequently, using an optical colonoscope (OC). Due to large
colonic deformations induced by the colonoscope, even very experienced
colonoscopists find it difficult to pinpoint the exact location of the
colonoscope tip in relation to polyps reported on CTC. This can cause unduly
prolonged OC examinations that are stressful for the patient, colonoscopist and
supporting staff.
We developed a method, based on monocular 3D reconstruction from OC images,
that automatically matches polyps observed in OC with polyps reported on prior
CTC. A matching cost is computed, using rigid point-based registration between
surface point clouds extracted from both modalities. A 3D printed and painted
phantom of a 25 cm long transverse colon segment was used to validate the
method on two medium sized polyps. Results indicate that the matching cost is
smaller at the correct corresponding polyp between OC and CTC: the value is 3.9
times higher at the incorrect polyp, comparing the correct match between polyps
to the incorrect match. Furthermore, we evaluate the matching of the
reconstructed polyp from OC with other colonic endoluminal surface structures
such as haustral folds and show that there is a minimum at the correct polyp
from CTC.
Automated matching between polyps observed at OC and prior CTC would
facilitate the biopsy or removal of true-positive pathology or exclusion of
false-positive CTC findings, and would reduce colonoscopy false-negative
(missed) polyps. Ultimately, such a method might reduce healthcare costs,
patient inconvenience and discomfort.Comment: This paper was presented at the SPIE Medical Imaging 2014 conferenc
Autosomal recessive primary microcephaly: an analysis of locus heterogeneity and phenotypic variation
BACKGROUND AND OBJECTIVES: Locus heterogeneity is well established in autosomal recessive primary
microcephaly (MCPH) and to date five loci have been mapped. However, the relative contributions of
these loci have not been assessed and genotype-phenotype correlations have not been investigated.
DESIGN: A study population of 56 consanguineous families resident in or originating from northern
Pakistan was ascertained and assessed by the authors. A panel of microsatellite markers spanning
each of the MCPH loci was designed, against which the families were genotyped.
RESULTS: The head circumference of the 131 affected subjects ranged from 4 to 14 SD below the mean,
but there was little intrafamilial variation among affecteds (± 1 SD). MCPH5 was the most prevalent,
with 24/56 families consistent with linkage; 2/56 families were compatible with linkage to MCPH1,
10/56 to MCPH2, 2/56 to MCPH3, none to MCPH4, and 18/56 did not segregate with any of the
loci.
CONCLUSIONS: MCPH5 is the most common locus in this population. On clinical grounds alone, the
phenotype of families linked to each MCPH locus could not be distinguished. We have also shown that
further MCPH loci await discovery with a number of families as yet unlinked
Weather-monitoring instrumentation for plant disease management programs and epidemiological studies, Station Bulletin, no.519
The Bulletin is a publication of the New Hampshire Agricultural Experiment Station, College of Life Sciences and Agriculture, University of New Hampshire, Durham, New Hampshire
Growth and feed standards for broilers -- 1973, Station Bulletin, no.502
The Bulletin is a publication of the New Hampshire Agricultural Experiment Station, College of Life Sciences and Agriculture, University of New Hampshire, Durham, New Hampshire
Potential for energy conservation in feeding livestock and poultry in the United States, Station Bulletin, no.506
The Bulletin is a publication of the New Hampshire Agricultural Experiment Station, College of Life Sciences and Agriculture, University of New Hampshire, Durham, New Hampshire
Spraying the apple orchard, Bulletin, no. 131
The Bulletin is a publication of the New Hampshire Agricultural Experiment Station, College of Life Sciences and Agriculture, University of New Hampshire, Durham, New Hampshire
Investigation into the Ultrasonic Setting of Glass Ionomer Cements : Part II Setting Times and Compressive Strengths
The ultrasonic setting of glass ionomer cements (GIC) was discussed. It was observed that the ultrasonic setting resulted in improvements of compressive strength. An increase in the PAA molecular weight from PAA50 to PAA200 resulted in an increase in the strength, but with a further increase in the PAA molecular weight to PAA450, there was a reduction in the strength. Results show that the strength of the ultrasonically set materials after 1 day were close to the values for the 7 days chemically set samples
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