PubMed Health⌕ Search

Biomedical subjects

N C Ho

Publications and source records attributed to N C Ho.

8 recordsLinked to original sources
PubMed2001

Comprehensive resource: Skeletal gene database.

The Skeletal Gene Database (SGD) is an integrated resource that provides comprehensive information about bone-related genes, mRNA, and proteins expressed in human and mouse, with rich links to numerous other electronic tools. SGD contains expressed sequence tag (EST) data from all the skeletal-related cDNA libraries that are available to the public. It supplies the query/data access analytic tools for users to search and compare each gene expressed in skeletal tissue(s). The results derived from EST tissue expression profiling will allow users to get the data on the mRNA copy numbers of each gene expressed in each tissue and its normalized value. From the SGD, researchers can obtain information regarding the name, symbol, size, exon/intron number, chromosomal location, LocusLink, and related disease (if any is known) of each gene. This electronic compendium also furnishes information on the protein of the corresponding gene including the protein size (amino acid number and molecular weight). It provides swift and ready access to other useful databases including OMIM, UniGene and PUBMED. The data will be updated regularly in step with current and future research, thereby providing what we hope will serve as a highly useful source of information and a powerful analytic tool to the scientific community.

Animals↗
PubMed2000

Jeune asphyxiating thoracic dystrophy and short-rib polydactyly type III (Verma-Naumoff) are variants of the same disorder.

Jeune syndrome (JS) and short-rib polydactyly syndrome type III (SRP type III) are autosomal recessive disorders characterized by short ribs and polydactyly. They are distinguished from each other by the more severe radiological and histological bone findings as well as the occurrence of facial anomalies, ambiguous genitalia, and occasionally, cloacal abnormalities in SRP type III. We present a family in which two children have mild JS and one has SRP type III as evidence that JS and SRP type III are variants of the same disorder. The intrafamilial variability may reflect the effects of modifying loci on gene expression.

Abnormalities, Multiple↗
PubMed2000

Monozygotic twins with fetal akinesia: the importance of clinicopathological work-up in predicting risks of recurrence.

Fetal Akinesia Deformation Sequence (FADS) or Pena-Shokeir Sequence is a heterogeneous group of disorders in which prolonged decrease or absence of fetal movements results in a series of deformational anomalies: multiple contractures, pulmonary hypoplasia, craniofacial anomalies, polyhydramnios, intrauterine growth retardation, and short umbilical cord. Three sets of monozygotic twins, and their affected sibs, are presented. Detailed pathological work-up established that the two pairs of twins concordant for FADS were of myogenic etiology while the set discordant was due to anoxic-ischemic damage. In the myogenic cases, the rate of recurrence was high, in agreement with the findings from the study on arthrogryposis multiplex congenita of myogenic origin. In light of these findings, in sporadic cases of myogenic FADS, counselling, a recurrence risk of 25% seems prudent. In neurogenic cases associated with primary cerebral malformations, there are cases cited in the literature that are clearly recessive as indicated by affected sibs, but many reported are isolated occurrences. Therefore, in this scenario, giving a recurrent risk of 10-15% appears appropriate. In light of autosomal recessive spinal muscular atrophy and reports of familial FADS due to primary anterior horn cell loss, counselling a 25% risk seems prudent. In cases due to anoxic-ischemic damage, offering a low recurrent risk of 1% appears justified.

Female↗
PubMed2000

A skeletal gene database.

Systematic organization of documented data coupled with ready accessibility is of great value to research. Catalogs and databases are created specifically to meet this purpose. The Skeletal Gene Database evolves as part of the Skeletal Genome Anatomy Project (SGAP), an ongoing multi-institute collaborative effort, to study the functional genome of bone and other skeletal tissues. The primary objective of the Skeletal Gene Database is to create a contemporary list of skeletal-related genes, offering the following information for each gene: gene name, protein name, cellular function, disease(s) caused by mutation of the corresponding gene, chromosomal location, LocusLink number, gene size, exon/intron numbers, messenger RNA (mRNA) coding region size, protein size/molecular weight, Online Mendelian Inheritance in Man (OMIM) number of the gene, UniGene assignment, and PubMed reference. The database includes genes already known and published in the literature as well as novel genes not yet characterized but known to be expressed in skeletal tissue. It will be posted on the web for easy access and swift referencing. The data will be updated in tempo with current and future research, thereby providing an invaluable service to the scientific community interested in obtaining information on bone-related genes.

Bone and Bones↗
PubMed1990

Principles and applications of Computer-Aided Design and Computer-Aided Manufacturing (CAD/CAM) technology in orthopaedics.

The principles involved in Computer-Aided Design (CAD) and Computer-Aided Manufacturing (CAM) technology is presented in this article. It also highlights the current advances and capability of this technology. Application of the CAD/CAM technology in orthopaedics is relatively new. Three broad areas of applications can be defined: (1) three-dimensional reconstructions of skeletal structure based on any of the imaging technique, i.e. CT scan, MRI or X-ray, to analyse, simulate, design and evaluate orthopaedic procedures without having to actually perform the surgery; (2) the production of plastic or wax models for surgeons to have global impressions and understanding of complex cases of bone and joint disorders and the possibility of using the physical models as templates to sculpt allograft pre-operatively; and (3) to design and manufacture geometrically optimal standard and customised implants. CAD/CAM technology is also rapidly developing in the field of prosthetics, orthotics and orthopaedics footwear. The advantages offered include shorter delivery time, more consistent design, quantifiable rectification and "modern" or remote manufacturing. Apart from these applied usage, the CAD/CAM technology is also an effective tool for education and training. The application of CAD/CAM technology in orthopaedics and its related fields has been shown to have tremendous potential, but may appear to be too esoteric, complex and costly at the present moment. However, with improved generality, simplicity and cost-effectiveness of the system, it will become more practical.

Computer Simulation↗