1,714 research outputs found
Rhode Island\u27s Barrier Beaches: As Assessment of Their Future
The lands and waters of the coastal zone have either been mismanaged or not managed at all since the early settling of the United States. Nowhere is this more evident, perhaps than along the nation\u27s barrier beaches. Rhode Island, while not suffering nearly from the degree of development on its barrier beaches as other states, is no exception. Economic pressures brought to bear have forced federal, state, and local governments to grapple extensively with this issue. The need for the preservation of barrier beaches in their natural state cannot be overstated and is recognized by all levels of government. This paper will examine the results of federal, state, and local legislation and regulations on the development of Green Hill Beach in South Kingstown, Rhode Island and, from conclusions drawn from that case history, assess the future of the extensive network of barrier beaches within the State of Rhode Island
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
A bioinformatics toolkit: in silico tools and online resources for investigating genetic variation
With the advent of large-scale next-generation sequencing initiatives, there is an increasing importance to interpret and understand the potential phenotypic influence of identified genetic variation and its significance in the human genome. Bioinformatics analyses can provide useful information to assist with variant interpretation. This review provides an overview of tools/resources currently available, and how they can help predict the impact of genetic variation at the deoxyribonucleic acid, ribonucleic acid, and protein level
The flora of Plum Island, Essex County, Massachusetts, Station Bulletin, no.513
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
Marketing New Hampshire potatoes, Station Bulletin, no.386
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
The population of New Hampshire, Station Bulletin, no.413
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
Production and utilization of milk by-products in New Hampshire, Station Bulletin, no.441
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
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