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Biomedical subjects

D C Jones

Publications and source records attributed to D C Jones.

At least 19 recordsLinked to original sources
PubMed2006

Killer Ig-like receptor (KIR) genotype and HLA ligand combinations in ulcerative colitis susceptibility.

Killer immunoglobulin-like receptors (KIRs) are expressed on natural killer cells and some T-cell subsets and produce either activation or inhibitory signals upon binding with the appropriate human leucocyte antigen (HLA) ligand on target cells. Recent genetic association studies have implicated KIR genotype in the development of several inflammatory conditions. Ulcerative colitis (UC) is an inflammatory disorder of the colonic mucosa that results from an inappropriate activation of the immune system driven by host bacterial flora. We developed a polymerase chain reaction-sequence specific primer (SSP)-based assay to genotype 194 UC patients and 216 control individuals for 14 KIR genes, the HLA-Cw ligand epitopes of the KIR2D receptors and a polymorphism of the lectin-like-activating receptor NKG2D. Initial analysis found the phenotype frequency of KIR2DL2 and -2DS2 to be significantly increased in the UC cohort (P=0.030 and 0.038, respectively). Logistic regression analysis revealed a protective effect conferred by KIR2DL3 in the presence of its ligand HLA-Cw group 1 (P=0.019). These results suggest that KIR genotype and HLA ligand interaction may contribute to the genetic susceptibility of UC.

Base Sequence↗
PubMed2005

Mediastinitis from odontogenic infection. A case report.

We report a case of mediastinitis complicating a dental infection in a 40-year-old male. Despite drainage of the localised neck abscess and the administration of systemic antibiotics, his submandibular abscess extended to involve the pericardial and pleural cavities. Drainage procedures and thoracotomies were required to treat the empyema and purulent pericarditis. Computed tomography was used to follow the progression of disease and assess the efficacy of treatment.

Acute Disease↗
PubMed2005

The use of the image intensifier in fractures of the zygomatic arch--a technical note.

Intra-operatively satisfactory reduction of a depressed zygomatic arch fracture is usually assessed by two means. The external aspect of the zygomatic arch may be palpated and compared to the uninjured opposite side. Secondly an instrument may be rolled under the arch to identify bony steps or discontinuities. Both of these methods are subjective. Occasionally fracture reduction is inadequate or unstable and if this not discovered until the post-operative assessment re-operation may be necessary. We have used the C-arm image intensifier intra-operatively to objectively assess the adequacy of fracture reduction. The equipment required is widely available and the technique is easily performed. Hardcopies can be produced and saved in the health care record thus obviating the need for post-operative imaging.

Adolescent↗
PubMed2005

Dental anomalies in Axenfeld-Rieger syndrome.

The authors describe the case of a 10-year-old girl presenting with Axenfeld-Rieger syndrome (ARS), a rare autosomal dominant condition. The patient showed severe hypodontia, microdontia and short roots. Early diagnosis of the syndrome from its dento-facial and systemic features is important so that subsequent ocular complications may be prevented.

Abnormalities, Multiple↗
PubMed2003

Natural killer receptor repertoires in transplantation.

Natural killer (NK) lymphocytes are potent effector cells that are controlled by the expression of a variety of cell surface receptors with either inhibitory or activating functions. The genetic and functional diversity of this receptor repertoire and the role of HLA class I molecules as a major group of NK receptor ligands create an innate alloreactive capacity in this cell type. Both animal models and in vitro studies have implicated NK cells as contributors to the pathology of clinical transplantation. However, recent clinical studies have indicated the potential benefit of exploiting NK cell alloreactivity in mismatched haematopoietic stem cell transplantation. Further investigations of NK cell alloreactivity will undoubtedly reveal additional applications of this fundamental cell type in clinical transplantation.

Animals↗
PubMed2003

Human platelet alloantigens (HPAs): PCR-SSP genotyping of a UK population for 15 HPA alleles.

Alloimmunization to human platelet alloantigens (HPAs) is responsible for neonatal alloimmune thrombocytopenia (NAIT), post-transfusional purpura (PTP) and platelet transfusion refractoriness. HPAs may also have a role as histocompatibility antigens in transplantation as well as associations with cardiac disease. We have developed a polymerase chain reaction-sequence-specific primer (PCR-SSP) assay capable of detecting 15 HPA allelic variants. As part of the validation of the assay, 134 UK renal donors were genotyped to determine HPA allele frequencies in the UK population. The HPA allele frequencies obtained are consistent with those of the other European studies: GP1A*1 (HPA-5a) and GP1A*2 (HPA-5b), 0.914 and 0.086, respectively; GP1BA*1 (HPA-2a) and GP1BA*2 (HPA-2b), 0.925 and 0.075; GP2B*1 (HPA-3a) and GP2B*2 (HPA-3b), 0.627 and 0.373; GP3A*1 (HPA-1a) and GP3A*2 (HPA-1b), 0.840 and 0.161. The rare alleles GP2B*3 (HPA-9bw) and GP3A*3 to *8 (HPA-4b, -6b, -7bw, -8bw, -10bw and -11bw, respectively) were all absent. This comprehensive HPA genotyping assay allows rapid, accurate and reproducible results at low cost.

Alleles↗
PubMed2002

Comprehensive hereditary hemochromatosis genotyping.

Hereditary hemochromatosis (HH) is an iron-overload disease common in populations of Northern European origin. Patients display increased iron absorption leading to excessive iron deposition and potential multiorgan failure. Using polymerase chain reaction sequence-specific primer (PCR-SSP) technology, we have developed an HH diagnosis assay capable of detecting 19 non-synonymous HFE mutations (including a previously unreported mutation, V295A) and several TFR2, SLC11A3 and H ferritin alleles implicated in HH. As part of the validation process, 159 UK renal donors were genotyped to determine HH allele frequencies in the UK population. The alleles nominally identified as HFE*01 (C282Y), HFE*02 (H63D) and HFE*03 (S65C) were found at frequencies of 0.085, 0.173 and 0.009, respectively. All other potential HH-associated alleles were absent, confirming their low prevalence in this population. This assay enables comprehensive routine HH genotyping, producing rapid, accurate and reproducible results at low cost.

DNA Mutational Analysis↗
PubMed2002

Vascularized iliac crest with internal oblique muscle for immediate reconstruction after maxillectomy.

The vascularized iliac crest graft with internal oblique muscle as a method of reconstruction after maxillectomy has been used routinely at the Regional Maxillofacial Unit in Liverpool since 1993. Twenty-four consecutive operations have now been done and this paper reports an audit of our experience. An analysis of case-notes was made retrospectively after checking theatre diaries and records. A detailed inspection of the case-notes was undertaken to ascertain the presenting diagnosis, the complications and the outcome in terms of recurrence and disease survival. The type of defect was recorded, as was whether it had been possible to rehabilitate the patient both dentally and facially. At the time of this study 9 patients (38%) had died of their disease leaving 15 surviving. In 13 cases full dental and facial rehabilitation had been achieved or patients were waiting for an implant-retained prosthesis. Donor site problems important enough to be recorded in the notes were minimal, one case of abdominal wall weakness was noted, which required no intervention. The vascularized iliac crest graft with internal oblique muscle offers a complete solution for reconstruction after maxillectomy, providing there has been no sacrifice of the overlying facial skin and oral sphincter. There is sufficient height and depth of bone to maintain a facial profile and the muscle epithelializes to provide an ideal oral and nasal lining. This flap provides a base to enable full dental and facial prosthetic rehabilitation with either implant-retained or conventional prostheses.

Abdominal Muscles↗
PubMed2002

Facial sinus of dental origin: a case report.

Sinus tracts of dental origin opening on the skin can be a diagnostic challenge. A delay in correctly diagnosing these lesions can result in ineffective and inappropriate treatment; however, if recognized early, the sinus tract usually resolves after appropriate endodontic therapy or extraction. We report a case of a cutaneous sinus tract secondary to a periapical abscess of the mandibular first molar tooth. The case was successfully treated by extraction and the sinus tract healed.

Adult↗
PubMed2001

Effects of sampling standardization on estimates of Phanerozoic marine diversification.

Global diversity curves reflect more than just the number of taxa that have existed through time: they also mirror variation in the nature of the fossil record and the way the record is reported. These sampling effects are best quantified by assembling and analyzing large numbers of locality-specific biotic inventories. Here, we introduce a new database of this kind for the Phanerozoic fossil record of marine invertebrates. We apply four substantially distinct analytical methods that estimate taxonomic diversity by quantifying and correcting for variation through time in the number and nature of inventories. Variation introduced by the use of two dramatically different counting protocols also is explored. We present sampling-standardized diversity estimates for two long intervals that sum to 300 Myr (Middle Ordovician-Carboniferous; Late Jurassic-Paleogene). Our new curves differ considerably from traditional, synoptic curves. For example, some of them imply unexpectedly low late Cretaceous and early Tertiary diversity levels. However, such factors as the current emphasis in the database on North America and Europe still obscure our view of the global history of marine biodiversity. These limitations will be addressed as the database and methods are refined.

Animals↗
PubMed2001

Serotonergic neurotoxicity of 3,4-(+/-)-methylenedioxyamphetamine and 3,4-(+/-)-methylendioxymethamphetamine (ecstasy) is potentiated by inhibition of gamma-glutamyl transpeptidase.

Reactive metabolites play an important role in 3,4-(+/-)-methylenedioxyamphetamine (MDA) and 3,4-(+/-)-methylenedioxymethamphetamine (MDMA; ecstasy)-mediated serotonergic neurotoxicity, although the specific identity of such metabolites remains unclear. 5-(Glutathion-S-yl)-alpha-methyldopamine (5-GSyl-alpha-MeDA) is a serotonergic neurotoxicant found in the bile of MDA-treated rats. The brain uptake of 5-GSyl-alpha-MeDA is decreased by glutathione (GSH), but sharply increases in animals pretreated with acivicin, an inhibitor of gamma-glutamyl transpeptidase (gamma-GT) suggesting competition between intact 5-GSyl-alpha-MeDA and GSH for the putative GSH transporter. gamma-GT is enriched in blood-brain barrier endothelial cells and is the only enzyme known to cleave the gamma-glutamyl bond of GSH. We now show that pretreatment of rats with acivicin (18 mg/kg, ip) inhibits brain microvessel endothelial gamma-GT activity by 60%, and potentiates MDA- and MDMA-mediated depletions in serotonin (5-HT) and 5-hydroxylindole acidic acid (5-HIAA) concentrations in brain regions enriched in 5-HT nerve terminal axons (striatum, cortex, hippocampus, and hypothalamus). In addition, glial fibrillary acidic protein (GFAP) expression increases in the striatum of acivicin and MDA (10 mg/kg) treated rats, but remains unchanged in animals treated with just MDA (10 mg/kg). Inhibition of endothelial cell gamma-GT at the blood-brain barrier likely enhances the uptake into brain of thioether metabolites of MDA and MDMA, such as 5-(glutathion-S-yl)-alpha-MeDA and 2,5-bis-(glutathion-S-yl)-alpha-MeDA, by increasing the pool of thioether conjugates available for uptake via the intact GSH transporter. The data indicate that thioether metabolites of MDA and MDMA contribute to the serotonergic neurotoxicity observed following peripheral administration of these drugs.

3,4-Methylenedioxyamphetamine↗
PubMed2001

CD1 genotyping of patients with Mycobacterium malmoense pulmonary disease.

Mycobacterium malmoense is an opportunistic mycobacterium that occasionally causes disease in non-immunosuppressed individuals. As only a few individuals exposed to these organisms actually develop clinical disease, it is possible there is a genetic component to susceptibility. CD1 molecules are capable of presenting antigens from more virulent mycobacteria to T cells; therefore, we were interested in discovering whether recently described polymorphisms in CD1 molecules modulated susceptibility to M. malmoense pulmonary disease. The CD1 system comprises five genes (CD1A, -B, -C, -D, and -E) located on chromosome 1 (1q22-23). CD1 molecules are structurally and functionally related to major histocompatibility complex (MHC) class I molecules and are expressed on dedicated antigen-presenting cells. The primary function of CD1 molecules is to present lipid and glycolipid antigens to T cells. We have developed an allele-specific polymerase chain reaction-sequence-specific primer (PCR-SSP) method of CD1 genotyping. Using this method, we compared the allele and haplotype frequencies of CD1 in 49 HIV-negative patients with M. malmoense pulmonary disease with those in 342 normal controls. The CD1A and CD1E alleles were nominally identified as CD1A*01, CD1A*02, CD1E*01 and CD1E*02, and the control gene frequencies were found to be 5%, 95%, 67% and 33%, respectively. No significant difference was observed between the patient and control cohorts. Positive linkage disequilibrium values of 0.73 were observed between CD1A*02 and CD1E*01 (P<0.0001; chi2 test), and 0.94 between CD1A*01 and CD1E*02 (P<0.0001; chi2 test). Typing was also performed for two previously described CD1D alleles (CD1D*01 and CD1D*02), although only CD1D*01 was detected.

Antigens, CD1↗
PubMed2001

Monoamniotic twins in a triplet gestation with favorable outcome.

BACKGROUND: Monoamniotic twins in a triplet gestation is a rare combination. Each condition is separately associated with significant perinatal morbidity and mortality. There are no data about the outcome and management of such gestations. CASE: We report a case of monoamniotic twins in a spontaneous dichorionic triplet gestation with a favorable outcome. Transvaginal ultrasound examination at nine weeks confirmed the diagnosis. Close follow-up was established that included continuous fetal monitoring after 30 weeks. At 35 weeks and after confirming fetal lung maturity, elective cesarean delivery was performed resulting in three liveborn female infants. CONCLUSION: Favorable outcome of such a rare coexistence of monoamniotic twins in a triplet gestation is possible. Vigilant fetal monitoring and timed delivery remain the mainstays of management.

Adult↗