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C J Williams

Publications and source records attributed to C J Williams.

At least 19 recordsLinked to original sources
PubMed1999

Physical map and characterization of transcripts in the candidate interval for familial chondrocalcinosis at chromosome 5p15.1.

The gene for familial chondrocalcinosis (MIM 118600; gene symbol CCAL2) has been localized to a 0.8-cM interval on the short arm of chromosome 5, between the polymorphic microsatellite markers D5S416 and D5S2114. We have undertaken the physical and transcript mapping of this interval, as well as regions telomeric to the interval, in an attempt to define ultimately the gene for this disorder. The physical map is composed of YAC, BAC, PAC, and cosmid resources and spans a physical distance of approximately 0.3 Mb. Using cDNA selection, we have identified eight novel transcripts in and around the interval; two of the selected transcripts reside in the candidate interval. We have also more precisely placed several expressed sequence tags (ESTs) that were previously mapped by radiation hybrid analysis and were reported to reside in or near the candidate interval. Two of the ESTs analyzed overlap with the selected cDNAs that reside in the candidate interval. All of the selected cDNAs are expressed partial transcripts, as determined by Northern blot analysis, and using RT-PCR analysis, we have determined that the cDNAs that reside in the candidate interval are expressed in cartilage and synovium, tissues that are presumably relevant to the chondrocalcinosis phenotype.

Adult↗
PubMed1999

Exclusion of the gene for human cartilage intermediate layer protein in currently mapped calcium pyrophosphate dihydrate deposition syndromes.

OBJECTIVE: To map the gene for human cartilage intermediate layer protein (CILP) in order to assess its involvement in some familial forms of calcium pyrophosphate dihydrate (CPPD) deposition disease. METHODS: A radiation hybrid panel was analyzed for chromosomal assignment of the CILP gene within a 1-cM limit of resolution. The location of the gene for CILP was confirmed to reside at the observed radiation hybrid locus by fluorescence in situ hybridization. RESULTS: The human CILP gene resides at chromosome 15q21. CONCLUSION: This map location definitively excludes mutations in the CILP gene as the cause of certain familial forms of CPPD deposition disease that have been genetically mapped to chromosomes 8q and 5p.

Base Sequence↗
PubMed1999

Monitoring mRNA decapping activity.

mRNA decapping is a common step shared between two important mRNA decay pathways in yeast, Saccharomyces cerevisiae. To investigate how mRNAs are decapped, we have developed an assay that can be easily used to measure the decapping activity. This assay has been used to isolate yeast strains with altered decapping activities. The results demonstrated that decreased decapping activity in vitro corresponds well with the decapping-deficient phenotype in vivo. This assay has been applied to the purified yeast decapping enzyme Dcp1 protein as well as crude yeast extracts and Xenopus oocyte extracts.

Animals↗
PubMed1999

Refinement of the chromosome 5p locus for familial calcium pyrophosphate dihydrate deposition disease.

Familial calcium pyrophosphate dihydrate deposition disease (CPPDD) is a disease of articular cartilage that is radiographically characterized by chondrocalcinosis due to the deposition of calcium-containing crystals in affected joints. We have documented the disease in an Argentinean kindred of northern Italian ancestry and in a French kindred from the Alsace region. Both families presented with a common phenotype including early age at onset and deposition of crystals of calcium pyrophosphate dihydrate in a similar pattern of affected joints. Affected family members were karyotypically normal. Linkage to the short arm of chromosome 5 was observed, consistent with a previous report of linkage of the CPPDD phenotype in a large British kindred to the 5p15 region. However, recombinants in the Argentinean kindred have enabled us to designate a region<1 cM in length between the markers D5S416 and D5S2114 as the CPPDD locus.

Calcium Pyrophosphate↗
PubMed1999

Effect of cattle diet on Escherichia coli O157:H7 acid resistance.

The duration of shedding of Escherichia coli O157 isolates by hay-fed and grain-fed steers experimentally inoculated with E. coli O157:H7 was compared, as well as the acid resistance of the bacteria. The hay-fed animals shed E. coli O157 longer than the grain-fed animals, and irrespective of diet, these bacteria were equally acid resistant. Feeding cattle hay may increase human infections with E. coli O157:H7.

Animal Feed↗
PubMed1999

Mutations in VPS16 and MRT1 stabilize mRNAs by activating an inhibitor of the decapping enzyme.

Decapping is a rate-limiting step in the decay of many yeast mRNAs; the activity of the decapping enzyme therefore plays a significant role in determining RNA stability. Using an in vitro decapping assay, we have identified a factor, Vps16p, that regulates the activity of the yeast decapping enzyme, Dcp1p. Mutations in the VPS16 gene result in a reduction of decapping activity in vitro and in the stabilization of both wild-type and nonsense-codon-containing mRNAs in vivo. The mrt1-3 allele, previously shown to affect the turnover of wild-type mRNAs, results in a similar in vitro phenotype. Extracts from both vps16 and mrt1 mutant strains inhibit the activity of purified Flag-Dcp1p. We have identified a 70-kDa protein which copurifies with Flag-Dcp1p as the abundant Hsp70 family member Ssa1p/2p. Intriguingly, the interaction with Ssa1p/2p is enhanced in strains with mutations in vps16 or mrt1. We propose that Hsp70s may be involved in the regulation of mRNA decapping.

Adenosine Triphosphatases↗
PubMed1998

Evidence that Gq family G proteins do not function in mouse egg activation at fertilization.

Embryonic development is initiated after the fertilizing sperm contacts the egg and triggers a process termed "egg activation," resulting in calcium release, cortical granule exocytosis, recruitment of maternal mRNAs, and cell cycle resumption. Heterotrimeric guanine nucleotide-binding proteins (G proteins) may be involved in mouse egg activation since inhibition of G protein beta gamma subunits partially inhibits sperm-induced cell cycle resumption. In addition, specific events of egg activation can be initiated in the absence of sperm by acetylcholine stimulation of mouse eggs overexpressing the human m1 muscarinic receptor, a G protein-coupled receptor. In somatic cell, G proteins in the Gq family couple ligand stimulation of the m1 muscarinic receptor to activation of phospholipase C, resulting in the production of inositol 1,4,5-trisphosphate (IP3) and IP3-mediated release of intracellular calcium. Since IP3-mediated calcium release is involved in egg activation at fertilization, we have examined the role of Gq family G proteins in both sperm-independent (muscarinic receptor-mediated) and sperm-induced egg activation using a function-blocking antibody raised against the common C-terminal region of Gq and G11 proteins. We show that this antibody effectively inhibits Gq family G proteins in mouse eggs by demonstrating that the antibody inhibits egg activation in response to stimulation of the m1 muscarinic receptor. This same antibody, however, does not inhibit sperm-induced egg activation events. These results indicate that although activation of Gq family G proteins can result in egg activation in the mouse, it is unlikely that these proteins are used by the sperm to initiate egg activation at fertilization.

Animals↗
PubMed1998

Five families with arginine 519-cysteine mutation in COL2A1: evidence for three distinct founders.

Arginine519-cysteine mutation in the type II procollagen gene (COL2A1) is known to be associated with mild spondyloepiphyseal dysplasia (SED) and precocious generalized osteoarthritis (OA). Five families have now been identified with this mutation. To determine whether a common founder was responsible for the mutation in these five families, we defined the haplotype of the mutation-bearing chromosome using four restriction fragment length polymorphisms (RFLPs) and the 3'-untranslated region VNTR. Haplotype frequencies were estimated for 69 control samples. Three distinct mutation-bearing haplotypes were identified, with three families sharing a common haplotype. For three distinct haplotypes to have derived from a single founder, three independent recombination events would have had to occur. Thus the arg519 codon appears to represent a possible site of recurrent mutations in COL2A1, an uncommon phenomenon in collagen genes.

Arginine↗
PubMed1998

Minor head injury.

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Accidents, Traffic↗
PubMed1998

Anesthesia for an achondroplastic dwarf with bilateral vocal cord granuloma: use of a Xomed Hunsaker Mon-Jet ventilation tube.

Technological advances have greatly improved the management of the patient undergoing microlaryngeal surgery. The use of a laser, high frequency jet ventilation (HFJV), total intravenous anesthetic techniques (TIVA), and specially designed endotracheal tubes (Xomed Hunsaker Mon-Jet ventilation tube [Xomed Surgical Products, Jacksonville, FL]) are recognized as cutting edge approaches to the management of these cases. The use of high technology adjuncts requires considerable skill and knowledge from the perspective of the anesthesia provider. This case report describes an approach to anesthetic management for a patient with a history of achondroplastic dwarfism having laser excision of bilateral vocal cord granulomas. Further increasing the complexity of the case was the surgical use of an autogenous tissue glue, which required a period of 'airway silence' during the application process.

Achondroplasia↗
PubMed1998

Twenty-four hour access to a CD-ROM surgical database has educational and patient management benefits.

This study determined whether 24 h access to current surgical literature via a personal computer CD-ROM was of relevance to the junior surgeon managing acute surgical referrals. Over a 2 month period, a total of 53 acute surgical referrals were assessed and initially managed by a single basic surgical trainee. The Medline database was searched using Silver Platter software for current surgical literature regarding aetiology and management after the initial patient assessment. Of the 53 searches made (mean search time 7 min 22 s), 20 (38%) were judged to have produced information that increased basic surgical trainee knowledge and a further 9 (17%) changed patient management. By contrast, 24 (45%) of searches did not reveal helpful information. The availability of a surgical database that provides the trainee with abstracts of the current literature is valuable both for the educational development of the surgeon and improvement of patient care.

CD-ROM↗
PubMed1998

Heritability estimates from human twin data by incorporating historical prior information.

Bayesian methods are commonly used in some analyses of human genetic data, such as segregation and linkage analyses, but they are not typically used for analyses of human twin data. In this paper we develop a scheme for a Bayesian analysis of human twin data. We develop prior elicitation schemes to incorporate historical information. We consider three prior schemes: fully informative, semi-informative and noninformative. We use Markov chain Monte Carlo sampling algorithms to facilitate Bayesian computation and provide detailed implementation schemes. We also develop model diagnostics for assessing the goodness of fit of twin models. Using a simulation study, we show that if the purpose of the study is to estimate the intraclass correlations or heritability in twin studies, then the semi-informative prior is as informative as the fully informative prior. Finally, a real data example is used to illustrate the proposed methodologies.

Bayes Theorem↗
PubMed1997

Do authors of review articles use systematic methods to identify, assess and synthesize information?

PURPOSE: Review articles are an important source of summary information for practising clinicians to assist them in remaining current with the rapidly expanding medical literature. Consequently it is essential that these be of the highest quality. In this study we evaluate, according to published criteria, the methodological quality of review articles (R) including meta-analysis (MA) appearing in a major cancer journal, Journal of Clinical Oncology (JCO), 1983-1995. METHODS: A hand-search of JCO was performed, from the first issue January 1983 through December 1995, to identify R, defined as publications that describe and comment on studies relevant to a specific topic or clinical intervention. Only those dealing with aspects of treatment of human cancer were considered further. Methodological quality was first assessed using 8 criteria proposed by Mulrow, rated independently by two medical oncologists as: specified, unclear or not specified. MA, including studies of dose intensity, were further analyzed according to 23 more detailed criteria proposed by Sacks et al. and rated as adequate, partial or no/unknown compliance. RESULTS: Of 176 review articles, 122 dealt with aspects of treatment of cancer. Compliance with four of Mulrow's eight criteria was generally good, in that 99% clearly stated a purpose, all attempted qualitative synthesis of data. 95% presented a summary and 76% considered future directions. However, in the 106 qualitative reviews (QR), authors rarely gave information on methods of data identification (11.3%), data selection (10.4%) and assessment of validity (8.4%). Structured abstracts seemed to improve the focus and clarity of QR and there was a minor improvement in deficient areas in the later time cohort (1990-1995). Based on 'adequate' compliance with each of the 23 criteria identified by Sacks et al., six dose intensity studies scored 7-12, seven literature data MA scored 10-15 and three individual patient data MA scored 16-18. The highest scores were in the sections relating to prospective design, combinability and statistical analysis. Factors relating to control of bias, sensitivity analysis and application of results were addressed less consistently. CONCLUSIONS: With the exception of MA, the majority of authors contributing reviews to a major cancer journal, JCO, did not use systematic methods to identify, assess and synthesize information. Initiatives such as the Cochrane Collaboration Cancer Network can support and educate clinicians who wish to perform systematic reviews, but quality of reviews would also improve if author, editors and readers systematically applied any of the sets of criteria now available in the literature.

Humans↗
PubMed1997

Evaluation of dietary influences on Escherichia coli O157:H7 shedding by sheep.

The effect of diet, an abrupt diet change, and fasting on the shedding of Escherichia coli O157:H7 was investigated with experimentally inoculated sheep as a ruminant model. Sheep were fed a grass hay diet (G), which was low in protein and digestible energy and high in fiber, or a mixture of corn and pelleted alfalfa (C), which was high in protein and digestible energy and low in fiber. After a single oral inoculation of E. coli O157:H7, all the animals shed fecal E. coli O157:H7. However, sheep that were fed G shed the bacterium almost twice as long as, and in larger numbers than, did sheep that were fed C. The number of culture-positive animals increased after the diet was abruptly changed from C to G and decreased with the opposite change (G to C). A 24-h fast did not influence E. coli O157:H7 shedding. Horizontal transmission of infection between animals occurred. Recent shedding of E. coli O157:H7 did not affect recolonization with E. coli O157:H7. The findings presented in this study indicate that preharvest control of diet may reduce the risk of E. coli O157:H7-positive animals entering the food chain.

Animal Feed↗