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Biomedical subjects

V Hill

Publications and source records attributed to V Hill.

At least 19 recordsLinked to original sources
PubMed2004

Cutaneous haemangioma: prevalence and sonographic characteristics of associated hepatic haemangioma.

AIMS: To determine the prevalence of hepatic haemangiomas (HH) occurring with multiple or large cutaneous haemangiomas (CH), and compare the ultrasound (US) characteristics of HH with morphology of concurrent CH. MATERIALS AND METHODS: Retrospective and prospective sonographic and clinical analysis was undertaken on 69 patients referred for US to exclude silent HH. This comprised 62 patients referred over 6 years with six or more CH or one large CH (#10878;5 cm) and seven patients referred over 1 year with three to five small CH. RESULTS: HH occurred in 45% miliary CH and 40% mixed small and large CH, but also in 12-14% of patients with one large or three or more small CH. None had HH progression. There was association between HH sonographic characteristics and CH number and morphology. CONCLUSION: Clinically silent HH occurred in nearly one in four of infants presenting overall with six or more small CH or large CH. Previous studies have documented HH mortality between 18 and 80%, although this was not shown in our study. Therefore, if clinical suspicion exists, US is indicated to enable early steroid treatment if significant HH are present.

Child↗
PubMed2004

Implementation of HaemScreen, a workplace-based genetic screening program for hemochromatosis.

There is debate as to whether community genetic screening for the mutation(s) causing hereditary hemochromatosis (HH) should be implemented, due to issues including disease penetrance, health economic outcomes, and concerns about community acceptance. Hemochromatosis is a common preventable iron overload disease, due in over 90% of cases to C282Y homozygosity in the HFE gene. We are, therefore, piloting C282Y screening to assess understanding of genetic information and screening acceptability in the workplace setting. In this program, HaemScreen, education was by oral or video presentation in a group setting. C282Y status was assessed by polymerase chain reaction (PCR) and melt-curve analysis on DNA obtained by cheek-brush sampling. Of eligible participants, 5.8% (1.5-15.8%) attended information and screening sessions, of whom 97.7% (5571 individuals) chose to be tested. Twenty-two C282Y (1 : 253) homozygotes were identified and offered clinical follow-up. There were 638 heterozygotes (1 : 8.7). The determinants for participation have been analyzed in terms of the principles outlined in the Health Belief Model. Widespread screening for HH is readily accepted in a workplace setting, and a one-to-many education program is effective. The level of participation varies greatly and the advertizing and session logistics should be adapted to the specific features of each workplace.

Adolescent↗
PubMed2002

Screening for antisense modulation of dystrophin pre-mRNA splicing.

Most gene therapy approaches to genetic disorders aim to compensate loss-of-function by introducing recombinant cDNA-based minigenes into diseased tissues. The current report represents an ongoing series of studies designed to correct genetic mutations at the post-transcriptional level. This strategy modifies the binding of components of the spliceosome by high affinity hybridisation of small complementary (antisense) RNA oligonucleotides to specific pre-mRNA sequences. These, so-called 'splicomer' reagents are chemically modified to impart bio-stability, and are designed to cause skipping of mutant frame-shifting exon sequences leading to restoration of the reading frame and an internally deleted but partially functional gene product. For instance, Duchenne muscular dystrophy is generally caused by frame-shift mutations in the dystrophin gene, whereas in-frame deletions of up to 50% of the central portion of the gene cause Becker muscular dystrophy, a much milder myopathy, which in some cases can remain asymptomatic to old age. In the mdx mouse model of Duchenne muscular dystrophy, a mutation in exon 23 of the dystrophin gene creates a stop codon and leads to a dystrophin-deficient myopathy in striated muscle. In previous studies, we have demonstrated that forced skipping of this mutant exon by treatment of mdx muscle cells with splicomer oligonucleotides can generate in-frame dystrophin transcripts and restore dystrophin expression. Here, we report the results of an optimisation of splicomer sequence design by the use of both high-throughput arrays and biological screens. This has resulted in specific and, importantly, exclusive skipping of the targeted exon in greater than 60% of dystrophin mRNA, leading to the de novo synthesis and localisation of dystrophin protein in cultured mdx muscle cells.

Animals↗
PubMed2002

Inhibition of atherosclerosis in apolipoprotein-E-deficient mice following muscle transduction with adeno-associated virus vectors encoding human apolipoprotein-E.

Apolipoprotein E (apoE) is a multifunctional plasma glycoprotein involved in lipoprotein metabolism and a range of cell signalling phenomena. ApoE-deficient (apoE(-/-)) mice exhibit severe hypercholesterolaemia and are an excellent model of human atherosclerosis. ApoE somatic gene transfer and bone marrow transplantation in apoE(-/-) mice results in reversal of hypercholesterolaemia, inhibition of atherogenesis and regression of atherosclerotic plaque density. Replication defective adeno-associated virus vectors (rAAVs) are an attractive system currently in clinical trial for muscle-based heterologous gene therapy to express secreted recombinant plasma proteins. Here we have applied rAAV transduction of skeletal muscle to express wild-type (epsilon3) and a defective receptor-binding mutant (epsilon2) human apoE transgene in apoE(-/-) mice. In treated animals, apoE mRNA was present in transduced muscles and, although plasma levels of recombinant apoE fell below the detection levels of our ELISA (ie <10 ng/ml), circulating antibodies to human apoE and rAAV were induced. Up to 3 months after a single administration of rAAV/apoE3, a significant reduction in atherosclerotic plaque density in aortas of treated animals was observed (approximately 30%), indicating that low-level rAAV-mediated apoE3 expression from skeletal muscle can retard atherosclerotic progression in this well-defined genetic model.

Animals↗
PubMed2001

Macrophage inflammatory protein-1alpha (not T helper type 2 cytokines) is associated with severe forms of respiratory syncytial virus bronchiolitis.

It has been suggested that the pathogenesis of respiratory syncytial virus (RSV) infection is related to the development of T helper (Th) type 2 cytokine responses. The presence of Th1 and Th2 cytokines and the chemokines macrophage inflammatory protein (MIP)-1alpha and monocyte chemotactic protein (MCP)-1 were assessed by ELISA in nasopharyngeal secretions of infants with RSV infection. Infants with mild bronchiolitis had increased Th1 cytokines and reduced Th2 cytokines, compared with infants with upper respiratory tract illness alone. Severe bronchiolitis was characterized by a more balanced Th1-Th2 response that did not differ from that of infants with upper respiratory tract illness alone. In contrast, MIP-1alpha was markedly increased in infants with severe bronchiolitis. MIP-1alpha and MCP-1 levels also were inversely related to oxygen saturation (P<.005). Thus, the severity of RSV bronchiolitis appears to be related more to chemokine release than to Th2 cytokine production.

Bronchiolitis↗
PubMed2001

Measurement of stellar age from uranium decay.

The ages of the oldest stars in the Galaxy indicate when star formation began, and provide a minimum age for the Universe. Radioactive dating of meteoritic material and stars relies on comparing the present abundance ratios of radioactive and stable nuclear species to the theoretically predicted ratios of their production. The radioisotope 232Th (half-life 14 Gyr) has been used to date Galactic stars, but it decays by only a factor of two over the lifetime of the Universe. 238U (half-life 4.5 Gyr) is in principle a more precise age indicator, but even its strongest spectral line, from singly ionized uranium at a wavelength of 385.957 nm, has previously not been detected in stars. Here we report a measurement of this line in the very metal-poor star CS31082-001, a star which is strongly overabundant in its heavy elements. The derived uranium abundance, log(U/H) = -13.7 +/- 0.14 +/- 0.12 yields an age of 12.5 +/- 3 Gyr, though this is still model dependent. The observation of this cosmochronometer gives the most direct age determination of the Galaxy. Also, with improved theoretical and laboratory data, it will provide a highly precise lower limit to the age of the Universe.

Journal Article↗
PubMed2001

The role of scaffolding errors in reading development: evidence from a longitudinal and a correlational study.

BACKGROUND: Identification of patterns of early reading behaviour that predict later reading success is clearly important. Reading errors of 6-year-olds represent a source of such early assessment information, but their significance as predictors of later reading is unknown. AIMS: The relationship between word reading errors at age 6 and accurate word reading at age 8 is investigated here. SAMPLES, METHODS, RESULTS: In study 1, 44 children completed word reading tests at 6 and 8 years. 'Scaffolding errors' preserving both initial and final phonemes (e.g., 'bark' misread as 'bank'); errors preserving either initial or final phonemes (e.g., 'bark' misread as 'bed' or 'like'); distant or unrelated errors (e.g., 'bark' misread as 'can' or 'men') and non-responses were measured at age 6. Scaffolding errors were the best predictors of word reading at age 8. Study 2 investigated the correlations between word and nonsense word reading, and scaffolding errors in 30 children aged 6 years. Scaffolding errors predicted unique variance in word reading after nonword reading was entered. CONCLUSIONS: Scaffolding errors represent a significant qualitative indicator of later word reading success. Implications of findings for early identification of reading difficulties, and facilitating reading interventions are discussed.

Child↗
PubMed2000

Understanding inference as a source of knowledge: children's ability to evaluate the certainty of deduction, perception, and guessing.

Three experiments investigated children's understanding of inference as a source of knowledge. Children observed a puppet make a statement about the color of one of two hidden toys after the puppet (a) looked directly at the toy (looking), (b) looked at the other toy (inference), or (c) looked at neither toy (guessing). Most 4-, 5-, and 6-year-olds did not rate the puppet as being more certain of the toy's color after the puppet looked directly at it or inferred its color than they did after the puppet guessed its color. Most 8 and 9-year-olds distinguished inference and looking from guessing. The tendency to explain the puppet's knowledge by referring to inference increased with age. Children who referred to inference in their explanations were more likely to judge deductive inference as more certain than guessing.

Age Factors↗
PubMed2000

Non-bullous congenital ichthyosiform erythroderma, with ocular albinism and Noonan syndrome.

A 21-year-old woman presented with non-bullous congenital ichthyosiform erythroderma; she was born a collodion baby. Associated features were ocular albinism, anterior segment dysgenesis of both eyes and Noonan syndrome. X-linked ichthyosis (steroid sulphatase deficiency) and X-linked ocular albinism have been mapped to the Xp22.3 region and cases have been reported with both conditions due to a partial short-arm deletion of the X chromosome. The ichthyosis and ocular albinism in the present case, however, are likely to be of the autosomal recessive type - a very rare association - and the combination with Noonan syndrome has not been reported previously.

Adult↗
PubMed2000

The bioceramic orbital implant: a new generation of porous implants.

PURPOSE: The authors describe a new generation of porous orbital implant made of aluminum oxide (Al2O3) and compare it with the hydroxyapatite orbital implants (Bio-Eye and FCI hydroxyapatite). METHODS: The authors examined the new implant macroscopically, with chemical analysis and microscopically with scanning electron microscopy. Animal implantation studies were performed using six adult male New Zealand albino rabbits. Implant vascularization was evaluated by means of magnetic resonance imaging and histopathologic sectioning. RESULTS: The Bioceramic orbital implant was found to have very uniform pore structure with an average pore size of 500 microm. The implant was 99.9% aluminum oxide on x-ray diffraction. Magnetic resonance imaging in vivo vascularization studies demonstrated enhancement of the implant to its center by 4 weeks after implantation in the rabbit. Histopathologically, fibrovascularization occurred uniformly throughout the implant and was noted by 4 weeks. CONCLUSIONS: The Bioceramic orbital implant represents a new porous orbital implant that has a very regular and extensive interconnected pore system, is as biocompatible as hydroxyapatite, is easy to manufacture, structurally strong, and free of contaminants. It is manufactured with no disruption to marine life ecosystems as may occur in the harvesting of coral for other orbital implants. It is less expensive than currently available hydroxyapatite implants and was approved by the U.S. Food and Drug Administration in April 2000.

Aluminum Oxide↗
PubMed1999

Aggression Questionnaire hostility scale predicts anger in response to mistreatment.

We tested the hypotheses that the hostility and anger scales of the Buss and Perry (1992) [Buss, A. H. & Perry, M. (1992). The Aggression Questionnaire. Journal of Personality and Social Psychology, 63, 452-459.] Aggression Questionnaire would predict anger in college students in response to mistreatment. We found low and high hostility groups did not differ in anger at baseline or after completing a task without provocation, but the high hostility group reported greater anger than the low group after the onset of provocation, which required all students to redo completed tasks because some students (confederates) were observed cheating. Hostility also influenced anxiety and depression, but only anger was greater as a result of the provocation in the high than in the low hostility group. The anger scale did not predict anger in response to provocation, but anger was higher in the high than the low anger group before the provocation. These findings support the construct validity of the Aggression Questionnaire hostility scale as a measure of suspicion, resentment and sensitivity to mistreatment.

Adolescent↗
PubMed1999

Contribution of the assisted reproductive technologies to fertility in males suffering spinal cord injury.

This study reviews 19 couples referred between 1990 and 1997 for fertility treatment for anejaculatory infertility in the male partner following spinal injury. Using sperm obtained by assisted ejaculation procedures, 14 of the 19 patients (74%) achieved at least 1 pregnancy. Pregnancy rates per treatment cycle were 12.0% for timed intrauterine insemination, 38.9% for gamete intra-Fallopian transfer and 19.2% for intracytoplasmic sperm injection followed by uterine embryo transfer. Choice of the appropriate assisted reproduction treatment to match the available semen quality results in a high level of success in such patients.

Adult↗
PubMed1998

Gallstone prevalence in Germany: the Ulm Gallbladder Stone Study.

The Ulm Gallbladder Stone Study is the first ultrasound-based epidemiologic survey of cholecystolithiasis in the former West Germany. A study population of 1116 blood donors (656 men, age 38.0 +/- 12.0 years; 460 women, age 34.1 +/- 11.2 years) at the Central Blood Bank of the German Red Cross in Ulm was examined between April 1994 and February 1995. Based on age, subjects were assigned to one of four groups (18-30, 31-40, 41-50, and 51-65 years). Following a structured interview of each study subject, an ultrasound examination was carried out and a blood sample obtained for laboratory study. Overall, 6.0% (95% (95% CI: 4.8%-7.6%) of all study subjects (5.8% of the men and 6.3% of the women) exhibited evidence of current or past gallbladder disease (cholelithiasis or history of cholecystectomy). The prevalence of gallbladder disease correlated positively with age, reaching a maximum of 13.7% (9.5-20.0) in the 51- to 65-year-old age group, and also correlated as with body mass index (BMI). Female subjects with previous full-term pregnancies showed a higher prevalence of cholelithiasis, but this difference was not statistically significant for age-adjusted analysis. Subjects with a family history of cholelithiasis were found to suffer from gallstones in 11.5% (8.0-16.7) of cases compared with 4.6% (3.4%-6.3%) of subjects without such family history. Autopsy studies conducted in Germany have shown the prevalence of gallstones to be about 13.1% in men and 33.8% in women. Our sonographic data are relatively low in comparison. This may be due, in part, to the specific selection characteristics inherent in retrospective autopsy studies, such as age distribution and the presence of other pathologic factors associated with increased risk for cholelithiasis. The Ulm data rank in the lower third of the prevalence range reported for European sonographic studies to date. Age, positive family history, and increased BMI all correlated positively with the prevalence of gallbladder disease (P < 0.05). For the study population as a whole, there was no gender-specific increased risk for the development of gallstones.

Adult↗
PubMed1997

Gallstone prevalence in relation to smoking, alcohol, coffee consumption, and nutrition. The Ulm Gallstone Study.

BACKGROUND: Besides considering well-known risk factors for the development of gallbladder stones, such as age, sex, fecundity, and hereditary predisposition, efforts at prevention have focused increasingly on other factors, such as nicotine, alcohol, and caffeine consumption, as well as general nutrition, which may be modified. METHODS: A total of 1116 blood donors were examined between April 1994 and February 1995 in the central blood bank of the German Red Cross in Ulm, Germany. Each subject received a questionnaire and underwent to an upper abdominal ultrasound examination. RESULTS: Gallbladder stone disease (current cholecystolithiasis and history of cholecystectomy) was detailed in 5.8% of the men and 6.3% of the women. Neither regularity nor number of daily meals correlated with the frequency of gallstone disease. Vegetarians (n = 48), as a group, were not found to have gallstones. In relation to the consumption of alcohol, tobacco, or caffeine higher prevalence of cholecystolithiasis was found only in heavy drinkers of coffee (P = 0.051; odds ratio (OR), 1.083; 95% confidence interval (CI), 0.999, 1.174). CONCLUSION: Results of the present study do not show a definite relationship between nutritional factors and the consumption of alcohol, tobacco, or caffeine and an increased prevalence of gallbladder stone disease.

Adult↗
PubMed1995

LFA-3 delta D2: a novel in vivo isoform of lymphocyte function-associated antigen 3.

Lymphocyte function-associated antigen 3 (LFA-3) has previously been described as occurring as two isomers in vivo, a transmembrane (TM) form and a glycosyl phosphatidylinositol (GPI)-linked form, differing only in their membrane anchoring mechanism. A third isoform, LFA-3 delta D2, which has the cytoplasmic tail of TM LFA-3 but a truncated extracellular domain, has been identified in vitro. We report that the LFA-3 delta D2 isoform, identified by RT-PCR analysis and DNA sequencing, is also present in vivo and appears to share a signal sequence with the TM and GPI isoforms. Expression of LFA-3 delta D2 was observed in both normal and diseased human buccal mucosa and gingiva. Thus, while specific functional differences between isoforms remain to be established, our results show that LFA-3 delta D2 is constitutively expressed in vivo, along with the other, previously described, isoforms of LFA-3.

Amino Acid Sequence↗