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F Williams

Publications and source records attributed to F Williams.

At least 19 recordsLinked to original sources
PubMed2004

EPR studies of amine radical cations, part 1: thermal and photoinduced rearrangements of n-alkylamine radical cations to their distonic forms in low-temperature freon matrices.

The thermal and photochemical transformations of primary amine radical cations (n-propyl 1.+, n-butyl 5.+) generated radiolytically in freon matrices have been investigated by using low-temperature EPR spectroscopy. Assignment of the spectra was facilitated by parallel studies on the corresponding N,N-dideuterioamines. The identifications were supported by quantum chemical calculations on the geometry, electronic structure, hyperfine splitting constants and energy levels of the observed transient radical species. The rapid generation of the primary species by a short exposure (1-2 min) to electron-beam irradiation at 77 K allowed the thermal rearrangement of 1.+ to be monitored kinetically as a first-order reaction at 125-140 K by the growth in the well-resolved EPR signal of the distonic radical cation .C(2CH2CH2NH3+. By comparison, the formation of the corresponding .CH2CH2CH2CH2NH3+ species from 5.+ is considerably more facile and already occurs within the short irradiation time. These results directly verify the intramolecular hydrogen-atom migration from carbon to nitrogen in these ionised amines, a reaction previously proposed to account for the fragmentation patterns observed in the mass spectrometry of these amines. The greater ease of the thermal rearrangement of 5.+ is in accordance with calculations on the barrier heights for these intramolecular 1,5- and 1,4-hydrogen shifts, the lower barrier for the former being associated with minimisation of the ring strain in a six-membered transition state. For 1.+, the 1,4-hydrogen shift is also brought about directly at 77 K by exposure to approximately 350 nm light, although there is also evidence for the 1,3-hydrogen shift requiring a higher energy. A more surprising result is the photochemical formation of the H2C=N. radical as a minor product under hard-matrix conditions in which diffusion is minimal. It is suggested that this occurs as a consequence of the beta-fragmentation of 1.+ to the ethyl radical and the CH2=NH2+ ion, followed by consecutive cage reactions of deprotonation and hydrogen transfer from the iminonium group. Additionally, secondary ion-molecule reactions were studied in CFCl2CF2Cl under matrix conditions that allow diffusion. The propane-1-iminyl radical CH3CH2CH=N. was detected at high concentrations of the n-propylamine substrate. Its formation is attributed to a modified reaction sequence in which 1.+ first undergoes a proton transfer within a cluster of amine molecules to yield the aminyl radical CH3CH2CH2N.H. A subsequent disproportionation of these radicals can then yield the propane-1-imine precursor CH3CH2CH=NH, which is known to easily undergo hydrogen abstraction from the nitrogen atom. The corresponding butane-1-iminyl radical was also observed.

Journal Article↗
PubMed2004

HLA class I allele distribution of a Hong Kong Chinese population based on high-resolution PCR-SSOP typing.

A stem cell registry population from Hong Kong, of Chinese ethnicity, was examined for HLA-A and HLA-B alleles using a two-stage sequence-specific oligonucleotide probe system. Comparison of the HLA-A and HLA-B frequencies with different populations showed a close relationship with a Chinese population from Singapore, although there were several differences in the presence/absence of alleles at the HLA-B locus. Having the data available on these registry donors will influence the search strategy and the ongoing compilation of new donors to the registry. In addition, knowing which alleles do/do not occur in this population will aid in the distinction of ambiguities which result from the use of many of the typing kits available.

Alleles↗
PubMed2004

Investigation of killer cell immunoglobulin-like receptor gene diversity III. KIR2DL3.

The allelic variation of one of the chromosome 19 KIR genes, KIR2DL3, has been investigated using a polymerase chain reaction sequence-specific oligonucleotide probe-based methodology. The procedure has been applied to a healthy Northern Irish control group in order to establish phenotype and genotype frequencies in this Caucasian population. In addition, cell line DNA and Centre d'Etude du Humaine (CEPH) families, both from the 13th International Histocompatibility Workshop have been investigated, establishing control data for this gene.

Alleles↗
PubMed2004

Investigation of killer cell immunoglobulin-like receptor gene diversity V. KIR3DL2.

Allelic definition within the killer cell immunoglobulin-like receptor gene, KIR3DL2, has been achieved through a sequence-specific oligonucleotide probe methodology, designed around the specific amplification of the D0 and D1 domains and a section of the cytoplasmic tail of this gene. The system has been applied to a healthy Northern Irish control group, establishing frequencies for this Caucasian population. Additionally, the KIR3DL2 allele status of cell line DNA and Centre d'Etude du Polymorphisme Humain (CEPH) families, both from the 13th International Histocompatibility Workshop, has been established. A high level of KIR3DL2 allelic polymorphism has been identified.

Genetic Variation↗
PubMed2004

Pulmonary neoplasia in two llamas (Lama glama).

Two llamas with pulmonary tumors were examined. Llama No. 1 had multiple nodules throughout the lung that consisted histologically of solid clusters of polygonal to spindle cells with rare glandular differentiation. Intravascular emboli were common. Similar neoplastic masses were present in the kidney, heart, and liver. Immunohistochemically, neoplastic cells were positive for broad-spectrum cytokeratins (CKs), high-molecular weight CKs, CKs 5/6, and vimentin. The diagnosis was pulmonary carcinoma. Llama No. 2 had pulmonary nodules without extrapulmonary involvement. Microscopically, neoplastic cells formed acini lined by simple epithelium and solid cords of squamous cells that sometimes surrounded acini. Neoplastic cells were strongly positive for broad-spectrum CKs and weakly positive for thyroid transcription factor-1. The diagnosis was adenosquamous carcinoma. Pulmonary tumors account for 23% of neoplasms in South American camelids in our laboratory, making this the second most common type of neoplasm after lymphosarcoma.

Animals↗
PubMed2003

Distribution of HLA-A alleles in eight ethnic groups from Pakistan.

The extreme polymorphism found at some loci of the HLA system has made it an invaluable tool for population genetic analyses. In this study eight diverse ethnic groups from Pakistan were analyzed at the HLA-A locus using sequence specific primers for polymerase chain reaction (PCR-SSP) and then further typed to the allele level using a two-stage sequence specific oligonucleotide probe (SSOP) strategy. Four of these ethnic groups (Burusho, Hazara, Kalash, Pathan) were from the north and four (Baloch, Brahui, Sindhi and Parsi) were from the south of Pakistan. Nine alleles were identified as unique to a particular ethnic group within Pakistan. Maximum variation was seen in the HLA-A*02 allele family for which 11 alleles were detected in the eight Pakistani ethnic groups. The alleles that showed significant variation between the Pakistani ethnic groups include A*0101, A*0206, A*0209, A*0207, A*0217, A*1101, A*2402/09 N/11 N, A*2902, A*3301 and A*3001. A phylogenetic tree based on DA distances for HLA-A allele frequencies separated the Pakistani populations from other world populations and also separated the only Dravidian speaking population of Pakistan, the Brahui, from the remaining Indo-European speaking ethnic groups of Pakistan.

Alleles↗
PubMed2002

Distribution of HLA alleles in Portugal and Cabo Verde. Relationships with the slave trade route.

HLA-A, -B, and -DR frequencies were analysed in populations from Portugal and the Madeira and Cabo Verde Archipelagos, aiming to characterize their genetic composition. Portuguese settlers colonized both Archipelagos in the 15th and 16th centuries. Madeira received many sub-Saharan slaves to work in the sugar plantations, and Cabo Verde served as a pivotal market in the Atlantic slave trade and was populated by individuals coming from the Senegambia region of the West African coast. The population of Madeira shows the highest genetic diversity and the presence of alleles and haplotypes usually linked to sub-Saharan populations, the haplotypes accounting for 3.5% of the total. Cabo Verde presents typical markers acknowledged to be of European or Ibero-Mediterranean origin, thus revealing the admixture of European settlers with Sub-Saharan slaves. Altogether the number of European haplotypes reaches 15% of the total. The Portuguese population shows a perceivable and significant heterogeneity both in allele and haplotype frequencies, unveiling a differential input of peoples from different origins. A PCA of the populations studied, plus other relevant ones, clearly shows gene heterogeneity in mainland Portugal as well as the differences and relationships between these populations and Madeira and Cabo Verde.

Africa, Western↗
PubMed2001

Genomewide search in familial Paget disease of bone shows evidence of genetic heterogeneity with candidate loci on chromosomes 2q36, 10p13, and 5q35.

Paget disease of bone (PDB) is a common disorder characterized by focal abnormalities of increased and disorganized bone turnover. Genetic factors are important in the pathogenesis of PDB, and previous studies have shown that the PDB-like bone dysplasia familial expansile osteolysis is caused by activating mutations in the TNFRSF11A gene that encodes receptor activator of nuclear factor kappa B (RANK); however, linkage studies, coupled with mutation screening, have excluded involvement of RANK in the vast majority of patients with PDB. To identify other candidate loci for PDB, we conducted a genomewide search in 319 individuals, from 62 kindreds with familial PDB, who were predominantly of British descent. The pattern of inheritance in the study group as a whole was consistent with autosomal dominant transmission of the disease. Parametric multipoint linkage analysis, under a model of heterogeneity, identified three chromosomal regions with LOD scores above the threshold for suggestive linkage. These were on chromosomes 2q36 (LOD score 2.7 at 218.24 cM), 5q35 (LOD score 3.0 at 189.63 cM), and 10p13 (LOD score 2.6 at 41.43 cM). For each of these loci, formal heterogeneity testing with HOMOG supported a model of linkage with heterogeneity, as opposed to no linkage or linkage with homogeneity. Two-point linkage analysis with a series of markers from the 5q35 region in another large kindred with autosomal dominant familial PDB also supported linkage to the candidate region with a maximum LOD score of 3.47 at D5S2034 (187.8 cM). These data indicate the presence of several susceptibility loci for PDB and identify a strong candidate locus for the disease, on chromosome 5q35.

Chromosome Mapping↗
PubMed2001

Randomised controlled trial of cardiotocography versus Doppler auscultation of fetal heart at admission in labour in low risk obstetric population.

OBJECTIVE: To compare the effect of admission cardiotocography and Doppler auscultation of the fetal heart on neonatal outcome and levels of obstetric intervention in a low risk obstetric population. DESIGN: Randomised controlled trial. SETTING: Obstetric unit of teaching hospital PARTICIPANTS: Pregnant women who had no obstetric complications that warranted continuous monitoring of fetal heart rate in labour. INTERVENTION: Women were randomised to receive either cardiotocography or Doppler auscultation of the fetal heart when they were admitted in spontaneous uncomplicated labour. MAIN OUTCOME MEASURES: The primary outcome measure was umbilical arterial metabolic acidosis. Secondary outcome measures included other measures of condition at birth and obstetric intervention. RESULTS: There were no significant differences in the incidence of metabolic acidosis or any other measure of neonatal outcome among women who remained at low risk when they were admitted in labour. However, compared with women who received Doppler auscultation, women who had admission cardiotocography were significantly more likely to have continuous fetal heart rate monitoring in labour (odds ratio 1.49, 95% confidence interval 1.26 to 1.76), augmentation of labour (1.26, 1.02 to 1.56), epidural analgesia (1.33, 1.10 to 1.61), and operative delivery (1.36, 1.12 to 1.65). CONCLUSIONS: Compared with Doppler auscultation of the fetal heart, admission cardiotocography does not benefit neonatal outcome in low risk women. Its use results in increased obstetric intervention, including operative delivery.

Acidosis↗
PubMed2001

Analysis of the distribution of HLA-B alleles in populations from five continents.

A two stage PCR-SSOP typing procedure, that permitted HLA-B allele assignment, was applied to DNA samples obtained from six diverse populations -Brazilian, Mexican (Series and Mestizos), Cuban (Caucasoid and Mulatto), South African Zulu, Omani, and Singapore Chinese. HLA-B allele frequencies and HLA-A/B two locus haplotype frequencies were compiled for each population.

Alleles↗
PubMed2001

A neurocytoma and an associated lenticulostriate artery aneurysm presenting with intraventricular hemorrhage: case report.

OBJECTIVE AND IMPORTANCE: Hemorrhage associated with central neurocytoma has been described previously, but never in association with an aneurysm originating from a feeding artery. We present the first reported case of a central neurocytoma in a patient with intraventricular hemorrhage caused by rupture of an aneurysm on a lenticulostriate artery that supplied the tumor. CLINICAL PRESENTATION: A 35-year-old man who presented with an intraventricular hemorrhage underwent magnetic resonance imaging and cerebral angiography that disclosed a right lateral intraventricular mass and a 7-mm fusiform aneurysm from a lateral lenticulostriate branch of the right middle cerebral artery. INTERVENTION: The patient underwent a contralateral transcallosal exploration and resection of the tumor, with excision of the adjacent lenticulostriate artery aneurysm. Pathological review demonstrated that the tumor was a neurocytoma. The aneurysm was discrete from the tumor but occurred on a vessel that supplied the tumor. CONCLUSION: Previous reports have demonstrated that intraventricular neurocytoma may present with tumor hemorrhage. In this case, an aneurysm separate and distinct from the tumor was the bleeding culprit, and the aneurysm was on an artery that fed into the tumor. Any such aneurysm must be identified and treated appropriately for therapy to be complete.

Adult↗
PubMed2001

The global posttranscriptional regulator RsmA modulates production of virulence determinants and N-acylhomoserine lactones in Pseudomonas aeruginosa.

Posttranscriptional control is known to contribute to the regulation of secondary metabolism and virulence determinants in certain gram-negative bacteria. Here we report the isolation of a Pseudomonas aeruginosa gene which encodes a global translational regulatory protein, RsmA (regulator of secondary metabolites). Overexpression of rsmA resulted in a substantial reduction in the levels of extracellular products, including protease, elastase, and staphylolytic (LasA protease) activity as well as the PA-IL lectin, hydrogen cyanide (HCN), and the phenazine pigment pyocyanin. While inactivation of rsmA in P. aeruginosa had only minor effects on the extracellular enzymes and the PA-IL lectin, the production of HCN and pyocyanin was enhanced during the exponential phase. The influence of RsmA on N-acylhomoserine lactone-mediated quorum sensing was determined by assaying the levels of N-(3-oxododecanoyl)homoserine lactone (3-oxo-C12-HSL) and N-butanoylhomoserine lactone (C4-HSL) produced by the rsmA mutant and the rsmA-overexpressing strain. RsmA exerted a negative effect on the synthesis of both 3-oxo-C12-HSL and C4-HSL, which was confirmed by using lasI and rhlI translational fusions. These data also highlighted the temporal expression control of the lasI gene, which was induced much earlier and to a higher level during the exponential growth phase in an rsmA mutant. To investigate whether RsmA modulates HCN production solely via quorum-sensing control, hcn translational fusions were employed to monitor the regulation of the cyanide biosynthesis genes (hcnABC). RsmA was shown to exert an additional negative effect on cyanogenesis posttranscriptionally by acting on a region surrounding the hcnA ribosome-binding site. This suggests that, in P. aeruginosa, RsmA functions as a pleiotropic posttranscriptional regulator of secondary metabolites directly and also indirectly by modulating the quorum-sensing circuitry.

4-Butyrolactone↗
PubMed2000

The radical cation of anti-tricyclooctadiene and its rearrangement products

The anti dimer of cyclobutadiene (anti-tricyclo[4.2.0.0(2.5)]octa-3,7-diene, TOD) is subjected to ionization by gamma-irradiation in Freon matrices, pulse radiolysis in hydrocarbon matrices, and photoinduced electron transfer in solution. The resulting species are probed by optical and ESR spectroscopy (solid phase) as well as by CIDNP spectroscopy (solution). Thereby it is found that ionization of anti-TOD invariably leads to spontaneous decay to two products, that is bicyclo[4.2.0]octa-2,4,7-triene (BOT) and 1,4-dihydropentalene (1,4-DHP), whose relative yield strongly depends on the conditions of the experiment. Exploration of the C8H8*+ potential energy surface by the B3LYP/6-31G* density functional method leads to a mechanistic hypothesis for the observed rearrangements which involves a bifurcation between a pathway leading to the simple valence isomer, BOT*+, and another one leading to an unprecedented other valence isomer, the anti form of the bicyclo[3.3.0]octa-2,6-diene-4,8-diyl radical cation (anti-BOD*+). The latter product undergoes a very facile H-shift to yield the radical cation of 1,3a-dihydropentalene (1,3a-DHP*+) which ultimately rearrranges by a further H-shift to the observed product, 1,4-DHP*+.

Journal Article↗