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C J Williams

Publications and source records attributed to C J Williams.

At least 37 records · Page 2Linked to original sources
PubMed2000

Familial osteoarthritis and Milwaukee shoulder associated with calcium pyrophosphate and apatite crystal deposition.

OBJECTIVE: To characterize and define the phenotypes observed in a large Italo-Argentinean kindred with osteoarthritis, chondrocalcinosis, and Milwaukee shoulder (MS). METHODS: Seventy-five members were evaluated with a history, examination, and radiographs of shoulders, spine, hands, and knees. Superior subluxation of the glenohumeral joint was graded using shoulder radiographs and tomography and nuclear magnetic resonance imaging and 3 dimensional computed tomography was performed on selected members. In 31 family members peripheral blood DNA was utilized for genetic linkage analysis of several candidate gene loci previously linked to chondrocalcinosis phenotypes, as well as those implicated in the proper patterning of skeletal elements and cartilage differentiation. In addition, direct sequence analysis of type II collagen gene (COL2A1), the gene that codes for the major structural protein of cartilage, was undertaken in 3 affected and 3 unaffected members of the family. RESULTS: MS was seen in one member of the first generation and 6 members of the 2nd generation, while 8 members of the 3rd generation showed an incomplete form of MS. Isolated superior subluxation of the shoulder was seen in 16 other family members of the 3rd and 4th generations. Osteoarthritis of the spine and peripheral joints was seen in 31 affected members, while chondrocalcinosis was observed in 6 members of the first generation. Shoulder synovial fluid from 2 patients showed the presence of both apatite and calcium pyrophosphate dihydrate crystals. Direct analysis of the COL2A1 gene indicated no known disease determining mutations in affected members, thus excluding this gene as a candidate gene in this family. Genetic linkage to several candidate loci, including the chondrocalcinosis loci on chromosomes 5p and 8q, as well as loci for HOX A and C were also excluded. Linkage analyses of other loci for the HOX B and D genes and the PAX 1 and 9 genes were uninformative in this kindred. CONCLUSION: This kindred illustrates an unusual type of osteoarthritis with secondary intraarticular and periarticular calcification and MS in the most severely affected elderly members. A search for linkage to some potential candidate genes was either excluded or uninformative. Further linkage analysis to identify potential candidate genes is in progress.

Adult↗
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

Gendered sex work in the San Francisco tenderloin.

The variable "gender" rarely appears in prostitution research. Its inclusion raises the same questions brought up with respect to other areas of work: Is there a gendered perspective with respect to the work and are gender inequalities reflected in it? This study examines gender differences in the work of 140 sex workers in the San Francisco Tenderloin. As well as women and men who are workers, we include transgender workers (genetic males who present themselves as women), further accentuating differences by gender. Looking at work-specific characteristics, we find that women do not suffer inequities of income. They are, however, more prone to occupational hazards. Transgenders, who suffer the most societal discrimination, are closer to women than men in their work situation. Examining the sexuality of sex workers, the women are the least likely to enjoy sex with clients. Men report more sexual enjoyment with clients and transgenders are closer to the men in this regard. Few differences are, however, found in sexual pleasure in the personal lives of the women, men, and transgenders. A gender difference that stands out is that the men have more noncommercial sex partners than the women. Again, transgenders are more like the men, although various aspects of their condition make for some unique differences.

Adult↗
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↗